Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.50242376_50242378dup | CA2628396210 | HDC | c.1873_1875dup (p.Leu625_Lys626insLeu) c.1774_1776dup (p.Leu592_Lys593insLeu) n.1617_1619dup c.1636_1638dup (p.Leu546_Lys547insLeu) c.1441_1443dup (p.Leu481_Lys482insLeu) c.1978_1980dup (p.Leu660_Lys661insLeu) c.1879_1881dup (p.Leu627_Lys628insLeu) c.1750_1752dup (p.Leu584_Lys585insLeu) c.1741_1743dup (p.Leu581_Lys582insLeu) c.1546_1548dup (p.Leu516_Lys517insLeu) | gnomAD v4 |
15 | g.50242376G>A | CA490313973 | HDC | c.1873C>T (p.Leu625=) c.1774C>T (p.Leu592=) n.1617C>T c.1636C>T (p.Leu546=) c.1441C>T (p.Leu481=) c.1978C>T (p.Leu660=) c.1879C>T (p.Leu627=) c.1750C>T (p.Leu584=) c.1741C>T (p.Leu581=) c.1546C>T (p.Leu516=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242376G>C | CA392376888 | HDC | c.1873C>G (p.Leu625Val) c.1774C>G (p.Leu592Val) n.1617C>G c.1636C>G (p.Leu546Val) c.1441C>G (p.Leu481Val) c.1978C>G (p.Leu660Val) c.1879C>G (p.Leu627Val) c.1750C>G (p.Leu584Val) c.1741C>G (p.Leu581Val) c.1546C>G (p.Leu516Val) | |
15 | g.50242376G= | CA2176326571 | HDC | c.1873C= (p.Leu625=) c.1774C= (p.Leu592=) n.1617C= c.1636C= (p.Leu546=) c.1441C= (p.Leu481=) c.1978C= (p.Leu660=) c.1879C= (p.Leu627=) c.1750C= (p.Leu584=) c.1741C= (p.Leu581=) c.1546C= (p.Leu516=) | |
15 | g.50242376G>T | CA392376889 | HDC | c.1873C>A (p.Leu625Met) c.1774C>A (p.Leu592Met) n.1617C>A c.1636C>A (p.Leu546Met) c.1441C>A (p.Leu481Met) c.1978C>A (p.Leu660Met) c.1879C>A (p.Leu627Met) c.1750C>A (p.Leu584Met) c.1741C>A (p.Leu581Met) c.1546C>A (p.Leu516Met) | |
15 | g.50242376_50242379delinsGCAT | CA2176326570 | HDC | c.1870_1873delinsATGC (p.Met624=) c.1771_1774delinsATGC (p.Met591=) n.1614_1617delinsATGC c.1633_1636delinsATGC (p.Met545=) c.1438_1441delinsATGC (p.Met480=) c.1975_1978delinsATGC (p.Met659=) c.1876_1879delinsATGC (p.Met626=) c.1747_1750delinsATGC (p.Met583=) c.1738_1741delinsATGC (p.Met580=) c.1543_1546delinsATGC (p.Met515=) | |
15 | g.50242377C>A | CA7554479 | HDC | c.1872G>T (p.Met624Ile) c.1773G>T (p.Met591Ile) n.1616G>T c.1635G>T (p.Met545Ile) c.1440G>T (p.Met480Ile) c.1977G>T (p.Met659Ile) c.1878G>T (p.Met626Ile) c.1749G>T (p.Met583Ile) c.1740G>T (p.Met580Ile) c.1545G>T (p.Met515Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242377C= | CA2176326573 | HDC | c.1872G= (p.Met624=) c.1773G= (p.Met591=) n.1616G= c.1635G= (p.Met545=) c.1440G= (p.Met480=) c.1977G= (p.Met659=) c.1878G= (p.Met626=) c.1749G= (p.Met583=) c.1740G= (p.Met580=) c.1545G= (p.Met515=) | |
15 | g.50242377C>G | CA392376890 | HDC | c.1872G>C (p.Met624Ile) c.1773G>C (p.Met591Ile) n.1616G>C c.1635G>C (p.Met545Ile) c.1440G>C (p.Met480Ile) c.1977G>C (p.Met659Ile) c.1878G>C (p.Met626Ile) c.1749G>C (p.Met583Ile) c.1740G>C (p.Met580Ile) c.1545G>C (p.Met515Ile) | |
15 | g.50242377C>T | CA392376891 | HDC | c.1872G>A (p.Met624Ile) c.1773G>A (p.Met591Ile) n.1616G>A c.1635G>A (p.Met545Ile) c.1440G>A (p.Met480Ile) c.1977G>A (p.Met659Ile) c.1878G>A (p.Met626Ile) c.1749G>A (p.Met583Ile) c.1740G>A (p.Met580Ile) c.1545G>A (p.Met515Ile) | gnomAD v4 |
15 | g.50242383_50242385del | CA2176326572 | HDC | c.1870_1872del (p.Met624del) c.1771_1773del (p.Met591del) n.1614_1616del c.1633_1635del (p.Met545del) c.1438_1440del (p.Met480del) c.1975_1977del (p.Met659del) c.1876_1878del (p.Met626del) c.1747_1749del (p.Met583del) c.1738_1740del (p.Met580del) c.1543_1545del (p.Met515del) | dbSNP |
15 | g.50242378A>C | CA392376892 | HDC | c.1871T>G (p.Met624Arg) c.1772T>G (p.Met591Arg) n.1615T>G c.1634T>G (p.Met545Arg) c.1439T>G (p.Met480Arg) c.1976T>G (p.Met659Arg) c.1877T>G (p.Met626Arg) c.1748T>G (p.Met583Arg) c.1739T>G (p.Met580Arg) c.1544T>G (p.Met515Arg) | |
15 | g.50242378A>G | CA392376893 | HDC | c.1871T>C (p.Met624Thr) c.1772T>C (p.Met591Thr) n.1615T>C c.1634T>C (p.Met545Thr) c.1439T>C (p.Met480Thr) c.1976T>C (p.Met659Thr) c.1877T>C (p.Met626Thr) c.1748T>C (p.Met583Thr) c.1739T>C (p.Met580Thr) c.1544T>C (p.Met515Thr) | |
15 | g.50242378A>T | CA392376894 | HDC | c.1871T>A (p.Met624Lys) c.1772T>A (p.Met591Lys) n.1615T>A c.1634T>A (p.Met545Lys) c.1439T>A (p.Met480Lys) c.1976T>A (p.Met659Lys) c.1877T>A (p.Met626Lys) c.1748T>A (p.Met583Lys) c.1739T>A (p.Met580Lys) c.1544T>A (p.Met515Lys) | |
15 | g.50242379T>A | CA392376895 | HDC | c.1870A>T (p.Met624Leu) c.1771A>T (p.Met591Leu) n.1614A>T c.1633A>T (p.Met545Leu) c.1438A>T (p.Met480Leu) c.1975A>T (p.Met659Leu) c.1876A>T (p.Met626Leu) c.1747A>T (p.Met583Leu) c.1738A>T (p.Met580Leu) c.1543A>T (p.Met515Leu) | gnomAD v4 |
15 | g.50242379T>C | CA392376896 | HDC | c.1870A>G (p.Met624Val) c.1771A>G (p.Met591Val) n.1614A>G c.1633A>G (p.Met545Val) c.1438A>G (p.Met480Val) c.1975A>G (p.Met659Val) c.1876A>G (p.Met626Val) c.1747A>G (p.Met583Val) c.1738A>G (p.Met580Val) c.1543A>G (p.Met515Val) | |
15 | g.50242379T>G | CA7554480 | HDC | c.1870A>C (p.Met624Leu) c.1771A>C (p.Met591Leu) n.1614A>C c.1633A>C (p.Met545Leu) c.1438A>C (p.Met480Leu) c.1975A>C (p.Met659Leu) c.1876A>C (p.Met626Leu) c.1747A>C (p.Met583Leu) c.1738A>C (p.Met580Leu) c.1543A>C (p.Met515Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242379T= | CA2176326574 | HDC | c.1870A= (p.Met624=) c.1771A= (p.Met591=) n.1614A= c.1633A= (p.Met545=) c.1438A= (p.Met480=) c.1975A= (p.Met659=) c.1876A= (p.Met626=) c.1747A= (p.Met583=) c.1738A= (p.Met580=) c.1543A= (p.Met515=) | |
15 | g.50242380C>A | CA392376897 | HDC | c.1869G>T (p.Met623Ile) c.1770G>T (p.Met590Ile) n.1613G>T c.1632G>T (p.Met544Ile) c.1437G>T (p.Met479Ile) c.1974G>T (p.Met658Ile) c.1875G>T (p.Met625Ile) c.1746G>T (p.Met582Ile) c.1737G>T (p.Met579Ile) c.1542G>T (p.Met514Ile) | COSMIC |
15 | g.50242380C>G | CA392376898 | HDC | c.1869G>C (p.Met623Ile) c.1770G>C (p.Met590Ile) n.1613G>C c.1632G>C (p.Met544Ile) c.1437G>C (p.Met479Ile) c.1974G>C (p.Met658Ile) c.1875G>C (p.Met625Ile) c.1746G>C (p.Met582Ile) c.1737G>C (p.Met579Ile) c.1542G>C (p.Met514Ile) | |
15 | g.50242380C>T | CA392376899 | HDC | c.1869G>A (p.Met623Ile) c.1770G>A (p.Met590Ile) n.1613G>A c.1632G>A (p.Met544Ile) c.1437G>A (p.Met479Ile) c.1974G>A (p.Met658Ile) c.1875G>A (p.Met625Ile) c.1746G>A (p.Met582Ile) c.1737G>A (p.Met579Ile) c.1542G>A (p.Met514Ile) | |
15 | g.50242381A>C | CA392376900 | HDC | c.1868T>G (p.Met623Arg) c.1769T>G (p.Met590Arg) n.1612T>G c.1631T>G (p.Met544Arg) c.1436T>G (p.Met479Arg) c.1973T>G (p.Met658Arg) c.1874T>G (p.Met625Arg) c.1745T>G (p.Met582Arg) c.1736T>G (p.Met579Arg) c.1541T>G (p.Met514Arg) | |
15 | g.50242381A>G | CA392376901 | HDC | c.1868T>C (p.Met623Thr) c.1769T>C (p.Met590Thr) n.1612T>C c.1631T>C (p.Met544Thr) c.1436T>C (p.Met479Thr) c.1973T>C (p.Met658Thr) c.1874T>C (p.Met625Thr) c.1745T>C (p.Met582Thr) c.1736T>C (p.Met579Thr) c.1541T>C (p.Met514Thr) | |
15 | g.50242381A>T | CA392376902 | HDC | c.1868T>A (p.Met623Lys) c.1769T>A (p.Met590Lys) n.1612T>A c.1631T>A (p.Met544Lys) c.1436T>A (p.Met479Lys) c.1973T>A (p.Met658Lys) c.1874T>A (p.Met625Lys) c.1745T>A (p.Met582Lys) c.1736T>A (p.Met579Lys) c.1541T>A (p.Met514Lys) | |
15 | g.50242382T>A | CA392376903 | HDC | c.1867A>T (p.Met623Leu) c.1768A>T (p.Met590Leu) n.1611A>T c.1630A>T (p.Met544Leu) c.1435A>T (p.Met479Leu) c.1972A>T (p.Met658Leu) c.1873A>T (p.Met625Leu) c.1744A>T (p.Met582Leu) c.1735A>T (p.Met579Leu) c.1540A>T (p.Met514Leu) | |
15 | g.50242382T>C | CA392376904 | HDC | c.1867A>G (p.Met623Val) c.1768A>G (p.Met590Val) n.1611A>G c.1630A>G (p.Met544Val) c.1435A>G (p.Met479Val) c.1972A>G (p.Met658Val) c.1873A>G (p.Met625Val) c.1744A>G (p.Met582Val) c.1735A>G (p.Met579Val) c.1540A>G (p.Met514Val) | |
15 | g.50242382T>G | CA392376905 | HDC | c.1867A>C (p.Met623Leu) c.1768A>C (p.Met590Leu) n.1611A>C c.1630A>C (p.Met544Leu) c.1435A>C (p.Met479Leu) c.1972A>C (p.Met658Leu) c.1873A>C (p.Met625Leu) c.1744A>C (p.Met582Leu) c.1735A>C (p.Met579Leu) c.1540A>C (p.Met514Leu) | |
15 | g.50242383C>A | CA392376906 | HDC | c.1866G>T (p.Met622Ile) c.1767G>T (p.Met589Ile) n.1610G>T c.1629G>T (p.Met543Ile) c.1434G>T (p.Met478Ile) c.1971G>T (p.Met657Ile) c.1872G>T (p.Met624Ile) c.1743G>T (p.Met581Ile) c.1734G>T (p.Met578Ile) c.1539G>T (p.Met513Ile) | |
15 | g.50242383C>G | CA392376907 | HDC | c.1866G>C (p.Met622Ile) c.1767G>C (p.Met589Ile) n.1610G>C c.1629G>C (p.Met543Ile) c.1434G>C (p.Met478Ile) c.1971G>C (p.Met657Ile) c.1872G>C (p.Met624Ile) c.1743G>C (p.Met581Ile) c.1734G>C (p.Met578Ile) c.1539G>C (p.Met513Ile) | |
15 | g.50242383C>T | CA392376908 | HDC | c.1866G>A (p.Met622Ile) c.1767G>A (p.Met589Ile) n.1610G>A c.1629G>A (p.Met543Ile) c.1434G>A (p.Met478Ile) c.1971G>A (p.Met657Ile) c.1872G>A (p.Met624Ile) c.1743G>A (p.Met581Ile) c.1734G>A (p.Met578Ile) c.1539G>A (p.Met513Ile) | gnomAD v4 |
15 | g.50242384A= | CA2176326575 | HDC | c.1865T= (p.Met622=) c.1766T= (p.Met589=) n.1609T= c.1628T= (p.Met543=) c.1433T= (p.Met478=) c.1970T= (p.Met657=) c.1871T= (p.Met624=) c.1742T= (p.Met581=) c.1733T= (p.Met578=) c.1538T= (p.Met513=) | |
15 | g.50242384A>C | CA392376909 | HDC | c.1865T>G (p.Met622Arg) c.1766T>G (p.Met589Arg) n.1609T>G c.1628T>G (p.Met543Arg) c.1433T>G (p.Met478Arg) c.1970T>G (p.Met657Arg) c.1871T>G (p.Met624Arg) c.1742T>G (p.Met581Arg) c.1733T>G (p.Met578Arg) c.1538T>G (p.Met513Arg) | |
15 | g.50242384A>G | CA7554481 | HDC | c.1865T>C (p.Met622Thr) c.1766T>C (p.Met589Thr) n.1609T>C c.1628T>C (p.Met543Thr) c.1433T>C (p.Met478Thr) c.1970T>C (p.Met657Thr) c.1871T>C (p.Met624Thr) c.1742T>C (p.Met581Thr) c.1733T>C (p.Met578Thr) c.1538T>C (p.Met513Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242384A>T | CA7554482 | HDC | c.1865T>A (p.Met622Lys) c.1766T>A (p.Met589Lys) n.1609T>A c.1628T>A (p.Met543Lys) c.1433T>A (p.Met478Lys) c.1970T>A (p.Met657Lys) c.1871T>A (p.Met624Lys) c.1742T>A (p.Met581Lys) c.1733T>A (p.Met578Lys) c.1538T>A (p.Met513Lys) | dbSNP ExAC gnomAD v2 |
15 | g.50242385T>A | CA392376910 | HDC | c.1864A>T (p.Met622Leu) c.1765A>T (p.Met589Leu) n.1608A>T c.1627A>T (p.Met543Leu) c.1432A>T (p.Met478Leu) c.1969A>T (p.Met657Leu) c.1870A>T (p.Met624Leu) c.1741A>T (p.Met581Leu) c.1732A>T (p.Met578Leu) c.1537A>T (p.Met513Leu) | |
15 | g.50242385T>C | CA392376911 | HDC | c.1864A>G (p.Met622Val) c.1765A>G (p.Met589Val) n.1608A>G c.1627A>G (p.Met543Val) c.1432A>G (p.Met478Val) c.1969A>G (p.Met657Val) c.1870A>G (p.Met624Val) c.1741A>G (p.Met581Val) c.1732A>G (p.Met578Val) c.1537A>G (p.Met513Val) | |
15 | g.50242385T>G | CA392376912 | HDC | c.1864A>C (p.Met622Leu) c.1765A>C (p.Met589Leu) n.1608A>C c.1627A>C (p.Met543Leu) c.1432A>C (p.Met478Leu) c.1969A>C (p.Met657Leu) c.1870A>C (p.Met624Leu) c.1741A>C (p.Met581Leu) c.1732A>C (p.Met578Leu) c.1537A>C (p.Met513Leu) | |
15 | g.50242386G>A | CA490313982 | HDC | c.1863C>T (p.Asp621=) c.1764C>T (p.Asp588=) n.1607C>T c.1626C>T (p.Asp542=) c.1431C>T (p.Asp477=) c.1968C>T (p.Asp656=) c.1869C>T (p.Asp623=) c.1740C>T (p.Asp580=) c.1731C>T (p.Asp577=) c.1536C>T (p.Asp512=) | gnomAD v4 |
15 | g.50242386G>C | CA392376913 | HDC | c.1863C>G (p.Asp621Glu) c.1764C>G (p.Asp588Glu) n.1607C>G c.1626C>G (p.Asp542Glu) c.1431C>G (p.Asp477Glu) c.1968C>G (p.Asp656Glu) c.1869C>G (p.Asp623Glu) c.1740C>G (p.Asp580Glu) c.1731C>G (p.Asp577Glu) c.1536C>G (p.Asp512Glu) | dbSNP |
15 | g.50242386G>T | CA392376914 | HDC | c.1863C>A (p.Asp621Glu) c.1764C>A (p.Asp588Glu) n.1607C>A c.1626C>A (p.Asp542Glu) c.1431C>A (p.Asp477Glu) c.1968C>A (p.Asp656Glu) c.1869C>A (p.Asp623Glu) c.1740C>A (p.Asp580Glu) c.1731C>A (p.Asp577Glu) c.1536C>A (p.Asp512Glu) | |
15 | g.50242387T>A | CA392376917 | HDC | c.1862A>T (p.Asp621Val) c.1763A>T (p.Asp588Val) n.1606A>T c.1625A>T (p.Asp542Val) c.1430A>T (p.Asp477Val) c.1967A>T (p.Asp656Val) c.1868A>T (p.Asp623Val) c.1739A>T (p.Asp580Val) c.1730A>T (p.Asp577Val) c.1535A>T (p.Asp512Val) | |
15 | g.50242387T>C | CA392376915 | HDC | c.1862A>G (p.Asp621Gly) c.1763A>G (p.Asp588Gly) n.1606A>G c.1625A>G (p.Asp542Gly) c.1430A>G (p.Asp477Gly) c.1967A>G (p.Asp656Gly) c.1868A>G (p.Asp623Gly) c.1739A>G (p.Asp580Gly) c.1730A>G (p.Asp577Gly) c.1535A>G (p.Asp512Gly) | |
15 | g.50242387T>G | CA392376916 | HDC | c.1862A>C (p.Asp621Ala) c.1763A>C (p.Asp588Ala) n.1606A>C c.1625A>C (p.Asp542Ala) c.1430A>C (p.Asp477Ala) c.1967A>C (p.Asp656Ala) c.1868A>C (p.Asp623Ala) c.1739A>C (p.Asp580Ala) c.1730A>C (p.Asp577Ala) c.1535A>C (p.Asp512Ala) | |
15 | g.50242388C>A | CA392376918 | HDC | c.1861G>T (p.Asp621Tyr) c.1762G>T (p.Asp588Tyr) n.1605G>T c.1624G>T (p.Asp542Tyr) c.1429G>T (p.Asp477Tyr) c.1966G>T (p.Asp656Tyr) c.1867G>T (p.Asp623Tyr) c.1738G>T (p.Asp580Tyr) c.1729G>T (p.Asp577Tyr) c.1534G>T (p.Asp512Tyr) | |
15 | g.50242388C>G | CA392376919 | HDC | c.1861G>C (p.Asp621His) c.1762G>C (p.Asp588His) n.1605G>C c.1624G>C (p.Asp542His) c.1429G>C (p.Asp477His) c.1966G>C (p.Asp656His) c.1867G>C (p.Asp623His) c.1738G>C (p.Asp580His) c.1729G>C (p.Asp577His) c.1534G>C (p.Asp512His) | gnomAD v4 |
15 | g.50242388C>T | CA392376920 | HDC | c.1861G>A (p.Asp621Asn) c.1762G>A (p.Asp588Asn) n.1605G>A c.1624G>A (p.Asp542Asn) c.1429G>A (p.Asp477Asn) c.1966G>A (p.Asp656Asn) c.1867G>A (p.Asp623Asn) c.1738G>A (p.Asp580Asn) c.1729G>A (p.Asp577Asn) c.1534G>A (p.Asp512Asn) | |
15 | g.50242389T>A | CA392376921 | HDC | c.1860A>T (p.Glu620Asp) c.1761A>T (p.Glu587Asp) n.1604A>T c.1623A>T (p.Glu541Asp) c.1428A>T (p.Glu476Asp) c.1965A>T (p.Glu655Asp) c.1866A>T (p.Glu622Asp) c.1737A>T (p.Glu579Asp) c.1728A>T (p.Glu576Asp) c.1533A>T (p.Glu511Asp) | |
15 | g.50242389T>C | CA490313985 | HDC | c.1860A>G (p.Glu620=) c.1761A>G (p.Glu587=) n.1604A>G c.1623A>G (p.Glu541=) c.1428A>G (p.Glu476=) c.1965A>G (p.Glu655=) c.1866A>G (p.Glu622=) c.1737A>G (p.Glu579=) c.1728A>G (p.Glu576=) c.1533A>G (p.Glu511=) | |
15 | g.50242389T>G | CA392376922 | HDC | c.1860A>C (p.Glu620Asp) c.1761A>C (p.Glu587Asp) n.1604A>C c.1623A>C (p.Glu541Asp) c.1428A>C (p.Glu476Asp) c.1965A>C (p.Glu655Asp) c.1866A>C (p.Glu622Asp) c.1737A>C (p.Glu579Asp) c.1728A>C (p.Glu576Asp) c.1533A>C (p.Glu511Asp) | |
15 | g.50242390T>A | CA392376925 | HDC | c.1859A>T (p.Glu620Val) c.1760A>T (p.Glu587Val) n.1603A>T c.1622A>T (p.Glu541Val) c.1427A>T (p.Glu476Val) c.1964A>T (p.Glu655Val) c.1865A>T (p.Glu622Val) c.1736A>T (p.Glu579Val) c.1727A>T (p.Glu576Val) c.1532A>T (p.Glu511Val) | |
15 | g.50242390T>C | CA392376924 | HDC | c.1859A>G (p.Glu620Gly) c.1760A>G (p.Glu587Gly) n.1603A>G c.1622A>G (p.Glu541Gly) c.1427A>G (p.Glu476Gly) c.1964A>G (p.Glu655Gly) c.1865A>G (p.Glu622Gly) c.1736A>G (p.Glu579Gly) c.1727A>G (p.Glu576Gly) c.1532A>G (p.Glu511Gly) | |
15 | g.50242390T>G | CA392376923 | HDC | c.1859A>C (p.Glu620Ala) c.1760A>C (p.Glu587Ala) n.1603A>C c.1622A>C (p.Glu541Ala) c.1427A>C (p.Glu476Ala) c.1964A>C (p.Glu655Ala) c.1865A>C (p.Glu622Ala) c.1736A>C (p.Glu579Ala) c.1727A>C (p.Glu576Ala) c.1532A>C (p.Glu511Ala) | |
15 | g.50242391C>A | CA392376926 | HDC | c.1858G>T (p.Glu620Ter) c.1759G>T (p.Glu587Ter) n.1602G>T c.1621G>T (p.Glu541Ter) c.1426G>T (p.Glu476Ter) c.1963G>T (p.Glu655Ter) c.1864G>T (p.Glu622Ter) c.1735G>T (p.Glu579Ter) c.1726G>T (p.Glu576Ter) c.1531G>T (p.Glu511Ter) | |
15 | g.50242391C>G | CA392376928 | HDC | c.1858G>C (p.Glu620Gln) c.1759G>C (p.Glu587Gln) n.1602G>C c.1621G>C (p.Glu541Gln) c.1426G>C (p.Glu476Gln) c.1963G>C (p.Glu655Gln) c.1864G>C (p.Glu622Gln) c.1735G>C (p.Glu579Gln) c.1726G>C (p.Glu576Gln) c.1531G>C (p.Glu511Gln) | |
15 | g.50242391C>T | CA392376927 | HDC | c.1858G>A (p.Glu620Lys) c.1759G>A (p.Glu587Lys) n.1602G>A c.1621G>A (p.Glu541Lys) c.1426G>A (p.Glu476Lys) c.1963G>A (p.Glu655Lys) c.1864G>A (p.Glu622Lys) c.1735G>A (p.Glu579Lys) c.1726G>A (p.Glu576Lys) c.1531G>A (p.Glu511Lys) | |
15 | g.50242392T>A | CA490313989 | HDC | c.1857A>T (p.Pro619=) c.1758A>T (p.Pro586=) n.1601A>T c.1620A>T (p.Pro540=) c.1425A>T (p.Pro475=) c.1962A>T (p.Pro654=) c.1863A>T (p.Pro621=) c.1734A>T (p.Pro578=) c.1725A>T (p.Pro575=) c.1530A>T (p.Pro510=) | |
15 | g.50242392T>C | CA490313990 | HDC | c.1857A>G (p.Pro619=) c.1758A>G (p.Pro586=) n.1601A>G c.1620A>G (p.Pro540=) c.1425A>G (p.Pro475=) c.1962A>G (p.Pro654=) c.1863A>G (p.Pro621=) c.1734A>G (p.Pro578=) c.1725A>G (p.Pro575=) c.1530A>G (p.Pro510=) | |
15 | g.50242392T>G | CA490313991 | HDC | c.1857A>C (p.Pro619=) c.1758A>C (p.Pro586=) n.1601A>C c.1620A>C (p.Pro540=) c.1425A>C (p.Pro475=) c.1962A>C (p.Pro654=) c.1863A>C (p.Pro621=) c.1734A>C (p.Pro578=) c.1725A>C (p.Pro575=) c.1530A>C (p.Pro510=) | |
15 | g.50242393G>A | CA392376929 | HDC | c.1856C>T (p.Pro619Leu) c.1757C>T (p.Pro586Leu) n.1600C>T c.1619C>T (p.Pro540Leu) c.1424C>T (p.Pro475Leu) c.1961C>T (p.Pro654Leu) c.1862C>T (p.Pro621Leu) c.1733C>T (p.Pro578Leu) c.1724C>T (p.Pro575Leu) c.1529C>T (p.Pro510Leu) | |
15 | g.50242393G>C | CA392376930 | HDC | c.1856C>G (p.Pro619Arg) c.1757C>G (p.Pro586Arg) n.1600C>G c.1619C>G (p.Pro540Arg) c.1424C>G (p.Pro475Arg) c.1961C>G (p.Pro654Arg) c.1862C>G (p.Pro621Arg) c.1733C>G (p.Pro578Arg) c.1724C>G (p.Pro575Arg) c.1529C>G (p.Pro510Arg) | |
15 | g.50242393G>T | CA392376931 | HDC | c.1856C>A (p.Pro619Gln) c.1757C>A (p.Pro586Gln) n.1600C>A c.1619C>A (p.Pro540Gln) c.1424C>A (p.Pro475Gln) c.1961C>A (p.Pro654Gln) c.1862C>A (p.Pro621Gln) c.1733C>A (p.Pro578Gln) c.1724C>A (p.Pro575Gln) c.1529C>A (p.Pro510Gln) | |
15 | g.50242394G>A | CA392376932 | HDC | c.1855C>T (p.Pro619Ser) c.1756C>T (p.Pro586Ser) n.1599C>T c.1618C>T (p.Pro540Ser) c.1423C>T (p.Pro475Ser) c.1960C>T (p.Pro654Ser) c.1861C>T (p.Pro621Ser) c.1732C>T (p.Pro578Ser) c.1723C>T (p.Pro575Ser) c.1528C>T (p.Pro510Ser) | |
15 | g.50242394G>C | CA392376933 | HDC | c.1855C>G (p.Pro619Ala) c.1756C>G (p.Pro586Ala) n.1599C>G c.1618C>G (p.Pro540Ala) c.1423C>G (p.Pro475Ala) c.1960C>G (p.Pro654Ala) c.1861C>G (p.Pro621Ala) c.1732C>G (p.Pro578Ala) c.1723C>G (p.Pro575Ala) c.1528C>G (p.Pro510Ala) | |
15 | g.50242394G>T | CA392376934 | HDC | c.1855C>A (p.Pro619Thr) c.1756C>A (p.Pro586Thr) n.1599C>A c.1618C>A (p.Pro540Thr) c.1423C>A (p.Pro475Thr) c.1960C>A (p.Pro654Thr) c.1861C>A (p.Pro621Thr) c.1732C>A (p.Pro578Thr) c.1723C>A (p.Pro575Thr) c.1528C>A (p.Pro510Thr) | |
15 | g.50242395A>C | CA392376935 | HDC | c.1854T>G (p.Phe618Leu) c.1755T>G (p.Phe585Leu) n.1598T>G c.1617T>G (p.Phe539Leu) c.1422T>G (p.Phe474Leu) c.1959T>G (p.Phe653Leu) c.1860T>G (p.Phe620Leu) c.1731T>G (p.Phe577Leu) c.1722T>G (p.Phe574Leu) c.1527T>G (p.Phe509Leu) | |
15 | g.50242395A>G | CA490313995 | HDC | c.1854T>C (p.Phe618=) c.1755T>C (p.Phe585=) n.1598T>C c.1617T>C (p.Phe539=) c.1422T>C (p.Phe474=) c.1959T>C (p.Phe653=) c.1860T>C (p.Phe620=) c.1731T>C (p.Phe577=) c.1722T>C (p.Phe574=) c.1527T>C (p.Phe509=) | |
15 | g.50242395A>T | CA392376936 | HDC | c.1854T>A (p.Phe618Leu) c.1755T>A (p.Phe585Leu) n.1598T>A c.1617T>A (p.Phe539Leu) c.1422T>A (p.Phe474Leu) c.1959T>A (p.Phe653Leu) c.1860T>A (p.Phe620Leu) c.1731T>A (p.Phe577Leu) c.1722T>A (p.Phe574Leu) c.1527T>A (p.Phe509Leu) | |
15 | g.50242396A>C | CA392376937 | HDC | c.1853T>G (p.Phe618Cys) c.1754T>G (p.Phe585Cys) n.1597T>G c.1616T>G (p.Phe539Cys) c.1421T>G (p.Phe474Cys) c.1958T>G (p.Phe653Cys) c.1859T>G (p.Phe620Cys) c.1730T>G (p.Phe577Cys) c.1721T>G (p.Phe574Cys) c.1526T>G (p.Phe509Cys) | |
15 | g.50242396A>G | CA392376938 | HDC | c.1853T>C (p.Phe618Ser) c.1754T>C (p.Phe585Ser) n.1597T>C c.1616T>C (p.Phe539Ser) c.1421T>C (p.Phe474Ser) c.1958T>C (p.Phe653Ser) c.1859T>C (p.Phe620Ser) c.1730T>C (p.Phe577Ser) c.1721T>C (p.Phe574Ser) c.1526T>C (p.Phe509Ser) | |
15 | g.50242396A>T | CA392376939 | HDC | c.1853T>A (p.Phe618Tyr) c.1754T>A (p.Phe585Tyr) n.1597T>A c.1616T>A (p.Phe539Tyr) c.1421T>A (p.Phe474Tyr) c.1958T>A (p.Phe653Tyr) c.1859T>A (p.Phe620Tyr) c.1730T>A (p.Phe577Tyr) c.1721T>A (p.Phe574Tyr) c.1526T>A (p.Phe509Tyr) | |
15 | g.50242397A>C | CA392376942 | HDC | c.1852T>G (p.Phe618Val) c.1753T>G (p.Phe585Val) n.1596T>G c.1615T>G (p.Phe539Val) c.1420T>G (p.Phe474Val) c.1957T>G (p.Phe653Val) c.1858T>G (p.Phe620Val) c.1729T>G (p.Phe577Val) c.1720T>G (p.Phe574Val) c.1525T>G (p.Phe509Val) | |
15 | g.50242397A>G | CA392376941 | HDC | c.1852T>C (p.Phe618Leu) c.1753T>C (p.Phe585Leu) n.1596T>C c.1615T>C (p.Phe539Leu) c.1420T>C (p.Phe474Leu) c.1957T>C (p.Phe653Leu) c.1858T>C (p.Phe620Leu) c.1729T>C (p.Phe577Leu) c.1720T>C (p.Phe574Leu) c.1525T>C (p.Phe509Leu) | |
15 | g.50242397A>T | CA392376940 | HDC | c.1852T>A (p.Phe618Ile) c.1753T>A (p.Phe585Ile) n.1596T>A c.1615T>A (p.Phe539Ile) c.1420T>A (p.Phe474Ile) c.1957T>A (p.Phe653Ile) c.1858T>A (p.Phe620Ile) c.1729T>A (p.Phe577Ile) c.1720T>A (p.Phe574Ile) c.1525T>A (p.Phe509Ile) | |
15 | g.50242398C>A | CA392376943 | HDC | c.1851G>T (p.Arg617Ser) c.1752G>T (p.Arg584Ser) n.1595G>T c.1614G>T (p.Arg538Ser) c.1419G>T (p.Arg473Ser) c.1956G>T (p.Arg652Ser) c.1857G>T (p.Arg619Ser) c.1728G>T (p.Arg576Ser) c.1719G>T (p.Arg573Ser) c.1524G>T (p.Arg508Ser) | |
15 | g.50242398C>G | CA392376944 | HDC | c.1851G>C (p.Arg617Ser) c.1752G>C (p.Arg584Ser) n.1595G>C c.1614G>C (p.Arg538Ser) c.1419G>C (p.Arg473Ser) c.1956G>C (p.Arg652Ser) c.1857G>C (p.Arg619Ser) c.1728G>C (p.Arg576Ser) c.1719G>C (p.Arg573Ser) c.1524G>C (p.Arg508Ser) | |
15 | g.50242398C>T | CA490313999 | HDC | c.1851G>A (p.Arg617=) c.1752G>A (p.Arg584=) n.1595G>A c.1614G>A (p.Arg538=) c.1419G>A (p.Arg473=) c.1956G>A (p.Arg652=) c.1857G>A (p.Arg619=) c.1728G>A (p.Arg576=) c.1719G>A (p.Arg573=) c.1524G>A (p.Arg508=) | |
15 | g.50242399C>A | CA392376945 | HDC | c.1850G>T (p.Arg617Met) c.1751G>T (p.Arg584Met) n.1594G>T c.1613G>T (p.Arg538Met) c.1418G>T (p.Arg473Met) c.1955G>T (p.Arg652Met) c.1856G>T (p.Arg619Met) c.1727G>T (p.Arg576Met) c.1718G>T (p.Arg573Met) c.1523G>T (p.Arg508Met) | |
15 | g.50242399C>G | CA392376946 | HDC | c.1850G>C (p.Arg617Thr) c.1751G>C (p.Arg584Thr) n.1594G>C c.1613G>C (p.Arg538Thr) c.1418G>C (p.Arg473Thr) c.1955G>C (p.Arg652Thr) c.1856G>C (p.Arg619Thr) c.1727G>C (p.Arg576Thr) c.1718G>C (p.Arg573Thr) c.1523G>C (p.Arg508Thr) | |
15 | g.50242399C>T | CA392376947 | HDC | c.1850G>A (p.Arg617Lys) c.1751G>A (p.Arg584Lys) n.1594G>A c.1613G>A (p.Arg538Lys) c.1418G>A (p.Arg473Lys) c.1955G>A (p.Arg652Lys) c.1856G>A (p.Arg619Lys) c.1727G>A (p.Arg576Lys) c.1718G>A (p.Arg573Lys) c.1523G>A (p.Arg508Lys) | |
15 | g.50242400T>A | CA392376948 | HDC | c.1849A>T (p.Arg617Trp) c.1750A>T (p.Arg584Trp) n.1593A>T c.1612A>T (p.Arg538Trp) c.1417A>T (p.Arg473Trp) c.1954A>T (p.Arg652Trp) c.1855A>T (p.Arg619Trp) c.1726A>T (p.Arg576Trp) c.1717A>T (p.Arg573Trp) c.1522A>T (p.Arg508Trp) | |
15 | g.50242400T>C | CA392376949 | HDC | c.1849A>G (p.Arg617Gly) c.1750A>G (p.Arg584Gly) n.1593A>G c.1612A>G (p.Arg538Gly) c.1417A>G (p.Arg473Gly) c.1954A>G (p.Arg652Gly) c.1855A>G (p.Arg619Gly) c.1726A>G (p.Arg576Gly) c.1717A>G (p.Arg573Gly) c.1522A>G (p.Arg508Gly) | dbSNP |
15 | g.50242400T>G | CA490314000 | HDC | c.1849A>C (p.Arg617=) c.1750A>C (p.Arg584=) n.1593A>C c.1612A>C (p.Arg538=) c.1417A>C (p.Arg473=) c.1954A>C (p.Arg652=) c.1855A>C (p.Arg619=) c.1726A>C (p.Arg576=) c.1717A>C (p.Arg573=) c.1522A>C (p.Arg508=) | |
15 | g.50242400T= | CA2176326576 | HDC | c.1849A= (p.Arg617=) c.1750A= (p.Arg584=) n.1593A= c.1612A= (p.Arg538=) c.1417A= (p.Arg473=) c.1954A= (p.Arg652=) c.1855A= (p.Arg619=) c.1726A= (p.Arg576=) c.1717A= (p.Arg573=) c.1522A= (p.Arg508=) | |
15 | g.50242401G>A | CA490314001 | HDC | c.1848C>T (p.Ser616=) c.1749C>T (p.Ser583=) n.1592C>T c.1611C>T (p.Ser537=) c.1416C>T (p.Ser472=) c.1953C>T (p.Ser651=) c.1854C>T (p.Ser618=) c.1725C>T (p.Ser575=) c.1716C>T (p.Ser572=) c.1521C>T (p.Ser507=) | |
15 | g.50242401G>C | CA490314003 | HDC | c.1848C>G (p.Ser616=) c.1749C>G (p.Ser583=) n.1592C>G c.1611C>G (p.Ser537=) c.1416C>G (p.Ser472=) c.1953C>G (p.Ser651=) c.1854C>G (p.Ser618=) c.1725C>G (p.Ser575=) c.1716C>G (p.Ser572=) c.1521C>G (p.Ser507=) | |
15 | g.50242401G>T | CA490314002 | HDC | c.1848C>A (p.Ser616=) c.1749C>A (p.Ser583=) n.1592C>A c.1611C>A (p.Ser537=) c.1416C>A (p.Ser472=) c.1953C>A (p.Ser651=) c.1854C>A (p.Ser618=) c.1725C>A (p.Ser575=) c.1716C>A (p.Ser572=) c.1521C>A (p.Ser507=) | |
15 | g.50242402G>A | CA270413845 | HDC | c.1847C>T (p.Ser616Phe) c.1748C>T (p.Ser583Phe) n.1591C>T c.1610C>T (p.Ser537Phe) c.1415C>T (p.Ser472Phe) c.1952C>T (p.Ser651Phe) c.1853C>T (p.Ser618Phe) c.1724C>T (p.Ser575Phe) c.1715C>T (p.Ser572Phe) c.1520C>T (p.Ser507Phe) | dbSNP COSMIC |
15 | g.50242402G>C | CA392376950 | HDC | c.1847C>G (p.Ser616Cys) c.1748C>G (p.Ser583Cys) n.1591C>G c.1610C>G (p.Ser537Cys) c.1415C>G (p.Ser472Cys) c.1952C>G (p.Ser651Cys) c.1853C>G (p.Ser618Cys) c.1724C>G (p.Ser575Cys) c.1715C>G (p.Ser572Cys) c.1520C>G (p.Ser507Cys) | |
15 | g.50242402G= | CA2176326577 | HDC | c.1847C= (p.Ser616=) c.1748C= (p.Ser583=) n.1591C= c.1610C= (p.Ser537=) c.1415C= (p.Ser472=) c.1952C= (p.Ser651=) c.1853C= (p.Ser618=) c.1724C= (p.Ser575=) c.1715C= (p.Ser572=) c.1520C= (p.Ser507=) | |
15 | g.50242402G>T | CA392376951 | HDC | c.1847C>A (p.Ser616Tyr) c.1748C>A (p.Ser583Tyr) n.1591C>A c.1610C>A (p.Ser537Tyr) c.1415C>A (p.Ser472Tyr) c.1952C>A (p.Ser651Tyr) c.1853C>A (p.Ser618Tyr) c.1724C>A (p.Ser575Tyr) c.1715C>A (p.Ser572Tyr) c.1520C>A (p.Ser507Tyr) | |
15 | g.50242403A= | CA2176326578 | HDC | c.1846T= (p.Ser616=) c.1747T= (p.Ser583=) n.1590T= c.1609T= (p.Ser537=) c.1414T= (p.Ser472=) c.1951T= (p.Ser651=) c.1852T= (p.Ser618=) c.1723T= (p.Ser575=) c.1714T= (p.Ser572=) c.1519T= (p.Ser507=) | |
15 | g.50242403A>C | CA7554483 | HDC | c.1846T>G (p.Ser616Ala) c.1747T>G (p.Ser583Ala) n.1590T>G c.1609T>G (p.Ser537Ala) c.1414T>G (p.Ser472Ala) c.1951T>G (p.Ser651Ala) c.1852T>G (p.Ser618Ala) c.1723T>G (p.Ser575Ala) c.1714T>G (p.Ser572Ala) c.1519T>G (p.Ser507Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242403A>G | CA392376952 | HDC | c.1846T>C (p.Ser616Pro) c.1747T>C (p.Ser583Pro) n.1590T>C c.1609T>C (p.Ser537Pro) c.1414T>C (p.Ser472Pro) c.1951T>C (p.Ser651Pro) c.1852T>C (p.Ser618Pro) c.1723T>C (p.Ser575Pro) c.1714T>C (p.Ser572Pro) c.1519T>C (p.Ser507Pro) | |
15 | g.50242403A>T | CA392376953 | HDC | c.1846T>A (p.Ser616Thr) c.1747T>A (p.Ser583Thr) n.1590T>A c.1609T>A (p.Ser537Thr) c.1414T>A (p.Ser472Thr) c.1951T>A (p.Ser651Thr) c.1852T>A (p.Ser618Thr) c.1723T>A (p.Ser575Thr) c.1714T>A (p.Ser572Thr) c.1519T>A (p.Ser507Thr) | |
15 | g.50242404A>C | CA392376954 | HDC | c.1845T>G (p.Phe615Leu) c.1746T>G (p.Phe582Leu) n.1589T>G c.1608T>G (p.Phe536Leu) c.1413T>G (p.Phe471Leu) c.1950T>G (p.Phe650Leu) c.1851T>G (p.Phe617Leu) c.1722T>G (p.Phe574Leu) c.1713T>G (p.Phe571Leu) c.1518T>G (p.Phe506Leu) | |
15 | g.50242404A>G | CA490314005 | HDC | c.1845T>C (p.Phe615=) c.1746T>C (p.Phe582=) n.1589T>C c.1608T>C (p.Phe536=) c.1413T>C (p.Phe471=) c.1950T>C (p.Phe650=) c.1851T>C (p.Phe617=) c.1722T>C (p.Phe574=) c.1713T>C (p.Phe571=) c.1518T>C (p.Phe506=) | gnomAD v4 |
15 | g.50242404A>T | CA392376955 | HDC | c.1845T>A (p.Phe615Leu) c.1746T>A (p.Phe582Leu) n.1589T>A c.1608T>A (p.Phe536Leu) c.1413T>A (p.Phe471Leu) c.1950T>A (p.Phe650Leu) c.1851T>A (p.Phe617Leu) c.1722T>A (p.Phe574Leu) c.1713T>A (p.Phe571Leu) c.1518T>A (p.Phe506Leu) | |
15 | g.50242405A>C | CA392376956 | HDC | c.1844T>G (p.Phe615Cys) c.1745T>G (p.Phe582Cys) n.1588T>G c.1607T>G (p.Phe536Cys) c.1412T>G (p.Phe471Cys) c.1949T>G (p.Phe650Cys) c.1850T>G (p.Phe617Cys) c.1721T>G (p.Phe574Cys) c.1712T>G (p.Phe571Cys) c.1517T>G (p.Phe506Cys) | |
15 | g.50242405A>G | CA392376957 | HDC | c.1844T>C (p.Phe615Ser) c.1745T>C (p.Phe582Ser) n.1588T>C c.1607T>C (p.Phe536Ser) c.1412T>C (p.Phe471Ser) c.1949T>C (p.Phe650Ser) c.1850T>C (p.Phe617Ser) c.1721T>C (p.Phe574Ser) c.1712T>C (p.Phe571Ser) c.1517T>C (p.Phe506Ser) | |
15 | g.50242405A>T | CA392376958 | HDC | c.1844T>A (p.Phe615Tyr) c.1745T>A (p.Phe582Tyr) n.1588T>A c.1607T>A (p.Phe536Tyr) c.1412T>A (p.Phe471Tyr) c.1949T>A (p.Phe650Tyr) c.1850T>A (p.Phe617Tyr) c.1721T>A (p.Phe574Tyr) c.1712T>A (p.Phe571Tyr) c.1517T>A (p.Phe506Tyr) | |
15 | g.50242406A>C | CA392376959 | HDC | c.1843T>G (p.Phe615Val) c.1744T>G (p.Phe582Val) n.1587T>G c.1606T>G (p.Phe536Val) c.1411T>G (p.Phe471Val) c.1948T>G (p.Phe650Val) c.1849T>G (p.Phe617Val) c.1720T>G (p.Phe574Val) c.1711T>G (p.Phe571Val) c.1516T>G (p.Phe506Val) | |
15 | g.50242406A>G | CA392376960 | HDC | c.1843T>C (p.Phe615Leu) c.1744T>C (p.Phe582Leu) n.1587T>C c.1606T>C (p.Phe536Leu) c.1411T>C (p.Phe471Leu) c.1948T>C (p.Phe650Leu) c.1849T>C (p.Phe617Leu) c.1720T>C (p.Phe574Leu) c.1711T>C (p.Phe571Leu) c.1516T>C (p.Phe506Leu) | |
15 | g.50242406A>T | CA392376961 | HDC | c.1843T>A (p.Phe615Ile) c.1744T>A (p.Phe582Ile) n.1587T>A c.1606T>A (p.Phe536Ile) c.1411T>A (p.Phe471Ile) c.1948T>A (p.Phe650Ile) c.1849T>A (p.Phe617Ile) c.1720T>A (p.Phe574Ile) c.1711T>A (p.Phe571Ile) c.1516T>A (p.Phe506Ile) | |
15 | g.50242407G>A | CA490314006 | HDC | c.1842C>T (p.Ile614=) c.1743C>T (p.Ile581=) n.1586C>T c.1605C>T (p.Ile535=) c.1410C>T (p.Ile470=) c.1947C>T (p.Ile649=) c.1848C>T (p.Ile616=) c.1719C>T (p.Ile573=) c.1710C>T (p.Ile570=) c.1515C>T (p.Ile505=) | dbSNP gnomAD v4 |
15 | g.50242407G>C | CA392376962 | HDC | c.1842C>G (p.Ile614Met) c.1743C>G (p.Ile581Met) n.1586C>G c.1605C>G (p.Ile535Met) c.1410C>G (p.Ile470Met) c.1947C>G (p.Ile649Met) c.1848C>G (p.Ile616Met) c.1719C>G (p.Ile573Met) c.1710C>G (p.Ile570Met) c.1515C>G (p.Ile505Met) | |
15 | g.50242407G= | CA2176326579 | HDC | c.1842C= (p.Ile614=) c.1743C= (p.Ile581=) n.1586C= c.1605C= (p.Ile535=) c.1410C= (p.Ile470=) c.1947C= (p.Ile649=) c.1848C= (p.Ile616=) c.1719C= (p.Ile573=) c.1710C= (p.Ile570=) c.1515C= (p.Ile505=) | |
15 | g.50242407G>T | CA490314008 | HDC | c.1842C>A (p.Ile614=) c.1743C>A (p.Ile581=) n.1586C>A c.1605C>A (p.Ile535=) c.1410C>A (p.Ile470=) c.1947C>A (p.Ile649=) c.1848C>A (p.Ile616=) c.1719C>A (p.Ile573=) c.1710C>A (p.Ile570=) c.1515C>A (p.Ile505=) | |
15 | g.50242408A= | CA2176326580 | HDC | c.1841T= (p.Ile614=) c.1742T= (p.Ile581=) n.1585T= c.1604T= (p.Ile535=) c.1409T= (p.Ile470=) c.1946T= (p.Ile649=) c.1847T= (p.Ile616=) c.1718T= (p.Ile573=) c.1709T= (p.Ile570=) c.1514T= (p.Ile505=) | |
15 | g.50242408A>C | CA392376963 | HDC | c.1841T>G (p.Ile614Ser) c.1742T>G (p.Ile581Ser) n.1585T>G c.1604T>G (p.Ile535Ser) c.1409T>G (p.Ile470Ser) c.1946T>G (p.Ile649Ser) c.1847T>G (p.Ile616Ser) c.1718T>G (p.Ile573Ser) c.1709T>G (p.Ile570Ser) c.1514T>G (p.Ile505Ser) | dbSNP |
15 | g.50242408A>G | CA392376964 | HDC | c.1841T>C (p.Ile614Thr) c.1742T>C (p.Ile581Thr) n.1585T>C c.1604T>C (p.Ile535Thr) c.1409T>C (p.Ile470Thr) c.1946T>C (p.Ile649Thr) c.1847T>C (p.Ile616Thr) c.1718T>C (p.Ile573Thr) c.1709T>C (p.Ile570Thr) c.1514T>C (p.Ile505Thr) | |
15 | g.50242408A>T | CA392376965 | HDC | c.1841T>A (p.Ile614Asn) c.1742T>A (p.Ile581Asn) n.1585T>A c.1604T>A (p.Ile535Asn) c.1409T>A (p.Ile470Asn) c.1946T>A (p.Ile649Asn) c.1847T>A (p.Ile616Asn) c.1718T>A (p.Ile573Asn) c.1709T>A (p.Ile570Asn) c.1514T>A (p.Ile505Asn) | |
15 | g.50242409T>A | CA392376966 | HDC | c.1840A>T (p.Ile614Phe) c.1741A>T (p.Ile581Phe) n.1584A>T c.1603A>T (p.Ile535Phe) c.1408A>T (p.Ile470Phe) c.1945A>T (p.Ile649Phe) c.1846A>T (p.Ile616Phe) c.1717A>T (p.Ile573Phe) c.1708A>T (p.Ile570Phe) c.1513A>T (p.Ile505Phe) | |
15 | g.50242409T>C | CA392376967 | HDC | c.1840A>G (p.Ile614Val) c.1741A>G (p.Ile581Val) n.1584A>G c.1603A>G (p.Ile535Val) c.1408A>G (p.Ile470Val) c.1945A>G (p.Ile649Val) c.1846A>G (p.Ile616Val) c.1717A>G (p.Ile573Val) c.1708A>G (p.Ile570Val) c.1513A>G (p.Ile505Val) | gnomAD v4 |
15 | g.50242409T>G | CA392376968 | HDC | c.1840A>C (p.Ile614Leu) c.1741A>C (p.Ile581Leu) n.1584A>C c.1603A>C (p.Ile535Leu) c.1408A>C (p.Ile470Leu) c.1945A>C (p.Ile649Leu) c.1846A>C (p.Ile616Leu) c.1717A>C (p.Ile573Leu) c.1708A>C (p.Ile570Leu) c.1513A>C (p.Ile505Leu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.50242409T= | CA2176326581 | HDC | c.1840A= (p.Ile614=) c.1741A= (p.Ile581=) n.1584A= c.1603A= (p.Ile535=) c.1408A= (p.Ile470=) c.1945A= (p.Ile649=) c.1846A= (p.Ile616=) c.1717A= (p.Ile573=) c.1708A= (p.Ile570=) c.1513A= (p.Ile505=) | |
15 | g.50242410T>A | CA392376970 | HDC | c.1839A>T (p.Arg613Ser) c.1740A>T (p.Arg580Ser) n.1583A>T c.1602A>T (p.Arg534Ser) c.1407A>T (p.Arg469Ser) c.1944A>T (p.Arg648Ser) c.1845A>T (p.Arg615Ser) c.1716A>T (p.Arg572Ser) c.1707A>T (p.Arg569Ser) c.1512A>T (p.Arg504Ser) | |
15 | g.50242410T>C | CA490314009 | HDC | c.1839A>G (p.Arg613=) c.1740A>G (p.Arg580=) n.1583A>G c.1602A>G (p.Arg534=) c.1407A>G (p.Arg469=) c.1944A>G (p.Arg648=) c.1845A>G (p.Arg615=) c.1716A>G (p.Arg572=) c.1707A>G (p.Arg569=) c.1512A>G (p.Arg504=) | |
15 | g.50242410T>G | CA392376969 | HDC | c.1839A>C (p.Arg613Ser) c.1740A>C (p.Arg580Ser) n.1583A>C c.1602A>C (p.Arg534Ser) c.1407A>C (p.Arg469Ser) c.1944A>C (p.Arg648Ser) c.1845A>C (p.Arg615Ser) c.1716A>C (p.Arg572Ser) c.1707A>C (p.Arg569Ser) c.1512A>C (p.Arg504Ser) | |
15 | g.50242411C>A | CA392376971 | HDC | c.1838G>T (p.Arg613Ile) c.1739G>T (p.Arg580Ile) n.1582G>T c.1601G>T (p.Arg534Ile) c.1406G>T (p.Arg469Ile) c.1943G>T (p.Arg648Ile) c.1844G>T (p.Arg615Ile) c.1715G>T (p.Arg572Ile) c.1706G>T (p.Arg569Ile) c.1511G>T (p.Arg504Ile) | |
15 | g.50242411C= | CA2176326582 | HDC | c.1838G= (p.Arg613=) c.1739G= (p.Arg580=) n.1582G= c.1601G= (p.Arg534=) c.1406G= (p.Arg469=) c.1943G= (p.Arg648=) c.1844G= (p.Arg615=) c.1715G= (p.Arg572=) c.1706G= (p.Arg569=) c.1511G= (p.Arg504=) | |
15 | g.50242411C>G | CA7554484 | HDC | c.1838G>C (p.Arg613Thr) c.1739G>C (p.Arg580Thr) n.1582G>C c.1601G>C (p.Arg534Thr) c.1406G>C (p.Arg469Thr) c.1943G>C (p.Arg648Thr) c.1844G>C (p.Arg615Thr) c.1715G>C (p.Arg572Thr) c.1706G>C (p.Arg569Thr) c.1511G>C (p.Arg504Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242411C>T | CA392376972 | HDC | c.1838G>A (p.Arg613Lys) c.1739G>A (p.Arg580Lys) n.1582G>A c.1601G>A (p.Arg534Lys) c.1406G>A (p.Arg469Lys) c.1943G>A (p.Arg648Lys) c.1844G>A (p.Arg615Lys) c.1715G>A (p.Arg572Lys) c.1706G>A (p.Arg569Lys) c.1511G>A (p.Arg504Lys) | |
15 | g.50242412T>A | CA392376973 | HDC | c.1837A>T (p.Arg613Ter) c.1738A>T (p.Arg580Ter) n.1581A>T c.1600A>T (p.Arg534Ter) c.1405A>T (p.Arg469Ter) c.1942A>T (p.Arg648Ter) c.1843A>T (p.Arg615Ter) c.1714A>T (p.Arg572Ter) c.1705A>T (p.Arg569Ter) c.1510A>T (p.Arg504Ter) | |
15 | g.50242412T>C | CA7554485 | HDC | c.1837A>G (p.Arg613Gly) c.1738A>G (p.Arg580Gly) n.1581A>G c.1600A>G (p.Arg534Gly) c.1405A>G (p.Arg469Gly) c.1942A>G (p.Arg648Gly) c.1843A>G (p.Arg615Gly) c.1714A>G (p.Arg572Gly) c.1705A>G (p.Arg569Gly) c.1510A>G (p.Arg504Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242412T>G | CA490314011 | HDC | c.1837A>C (p.Arg613=) c.1738A>C (p.Arg580=) n.1581A>C c.1600A>C (p.Arg534=) c.1405A>C (p.Arg469=) c.1942A>C (p.Arg648=) c.1843A>C (p.Arg615=) c.1714A>C (p.Arg572=) c.1705A>C (p.Arg569=) c.1510A>C (p.Arg504=) | |
15 | g.50242412T= | CA2176326583 | HDC | c.1837A= (p.Arg613=) c.1738A= (p.Arg580=) n.1581A= c.1600A= (p.Arg534=) c.1405A= (p.Arg469=) c.1942A= (p.Arg648=) c.1843A= (p.Arg615=) c.1714A= (p.Arg572=) c.1705A= (p.Arg569=) c.1510A= (p.Arg504=) | |
15 | g.50242413G>A | CA490314012 | HDC | c.1836C>T (p.Val612=) c.1737C>T (p.Val579=) n.1580C>T c.1599C>T (p.Val533=) c.1404C>T (p.Val468=) c.1941C>T (p.Val647=) c.1842C>T (p.Val614=) c.1713C>T (p.Val571=) c.1704C>T (p.Val568=) c.1509C>T (p.Val503=) | |
15 | g.50242413G>C | CA490314013 | HDC | c.1836C>G (p.Val612=) c.1737C>G (p.Val579=) n.1580C>G c.1599C>G (p.Val533=) c.1404C>G (p.Val468=) c.1941C>G (p.Val647=) c.1842C>G (p.Val614=) c.1713C>G (p.Val571=) c.1704C>G (p.Val568=) c.1509C>G (p.Val503=) | |
15 | g.50242413G>T | CA490314014 | HDC | c.1836C>A (p.Val612=) c.1737C>A (p.Val579=) n.1580C>A c.1599C>A (p.Val533=) c.1404C>A (p.Val468=) c.1941C>A (p.Val647=) c.1842C>A (p.Val614=) c.1713C>A (p.Val571=) c.1704C>A (p.Val568=) c.1509C>A (p.Val503=) | |
15 | g.50242414A= | CA2176326584 | HDC | c.1835T= (p.Val612=) c.1736T= (p.Val579=) n.1579T= c.1598T= (p.Val533=) c.1403T= (p.Val468=) c.1940T= (p.Val647=) c.1841T= (p.Val614=) c.1712T= (p.Val571=) c.1703T= (p.Val568=) c.1508T= (p.Val503=) | |
15 | g.50242414A>C | CA392376974 | HDC | c.1835T>G (p.Val612Gly) c.1736T>G (p.Val579Gly) n.1579T>G c.1598T>G (p.Val533Gly) c.1403T>G (p.Val468Gly) c.1940T>G (p.Val647Gly) c.1841T>G (p.Val614Gly) c.1712T>G (p.Val571Gly) c.1703T>G (p.Val568Gly) c.1508T>G (p.Val503Gly) | dbSNP |
15 | g.50242414A>G | CA392376975 | HDC | c.1835T>C (p.Val612Ala) c.1736T>C (p.Val579Ala) n.1579T>C c.1598T>C (p.Val533Ala) c.1403T>C (p.Val468Ala) c.1940T>C (p.Val647Ala) c.1841T>C (p.Val614Ala) c.1712T>C (p.Val571Ala) c.1703T>C (p.Val568Ala) c.1508T>C (p.Val503Ala) | |
15 | g.50242414A>T | CA392376976 | HDC | c.1835T>A (p.Val612Asp) c.1736T>A (p.Val579Asp) n.1579T>A c.1598T>A (p.Val533Asp) c.1403T>A (p.Val468Asp) c.1940T>A (p.Val647Asp) c.1841T>A (p.Val614Asp) c.1712T>A (p.Val571Asp) c.1703T>A (p.Val568Asp) c.1508T>A (p.Val503Asp) | |
15 | g.50242415C>A | CA392376977 | HDC | c.1834G>T (p.Val612Phe) c.1735G>T (p.Val579Phe) n.1578G>T c.1597G>T (p.Val533Phe) c.1402G>T (p.Val468Phe) c.1939G>T (p.Val647Phe) c.1840G>T (p.Val614Phe) c.1711G>T (p.Val571Phe) c.1702G>T (p.Val568Phe) c.1507G>T (p.Val503Phe) | |
15 | g.50242415C>G | CA392376978 | HDC | c.1834G>C (p.Val612Leu) c.1735G>C (p.Val579Leu) n.1578G>C c.1597G>C (p.Val533Leu) c.1402G>C (p.Val468Leu) c.1939G>C (p.Val647Leu) c.1840G>C (p.Val614Leu) c.1711G>C (p.Val571Leu) c.1702G>C (p.Val568Leu) c.1507G>C (p.Val503Leu) | |
15 | g.50242415C>T | CA392376979 | HDC | c.1834G>A (p.Val612Ile) c.1735G>A (p.Val579Ile) n.1578G>A c.1597G>A (p.Val533Ile) c.1402G>A (p.Val468Ile) c.1939G>A (p.Val647Ile) c.1840G>A (p.Val614Ile) c.1711G>A (p.Val571Ile) c.1702G>A (p.Val568Ile) c.1507G>A (p.Val503Ile) | |
15 | g.50242416C>A | CA7554486 | HDC | c.1833G>T (p.Arg611Ser) c.1734G>T (p.Arg578Ser) n.1577G>T c.1596G>T (p.Arg532Ser) c.1401G>T (p.Arg467Ser) c.1938G>T (p.Arg646Ser) c.1839G>T (p.Arg613Ser) c.1710G>T (p.Arg570Ser) c.1701G>T (p.Arg567Ser) c.1506G>T (p.Arg502Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242416C= | CA2176326585 | HDC | c.1833G= (p.Arg611=) c.1734G= (p.Arg578=) n.1577G= c.1596G= (p.Arg532=) c.1401G= (p.Arg467=) c.1938G= (p.Arg646=) c.1839G= (p.Arg613=) c.1710G= (p.Arg570=) c.1701G= (p.Arg567=) c.1506G= (p.Arg502=) | |
15 | g.50242416C>G | CA392376980 | HDC | c.1833G>C (p.Arg611Ser) c.1734G>C (p.Arg578Ser) n.1577G>C c.1596G>C (p.Arg532Ser) c.1401G>C (p.Arg467Ser) c.1938G>C (p.Arg646Ser) c.1839G>C (p.Arg613Ser) c.1710G>C (p.Arg570Ser) c.1701G>C (p.Arg567Ser) c.1506G>C (p.Arg502Ser) | gnomAD v4 |
15 | g.50242416C>T | CA490314015 | HDC | c.1833G>A (p.Arg611=) c.1734G>A (p.Arg578=) n.1577G>A c.1596G>A (p.Arg532=) c.1401G>A (p.Arg467=) c.1938G>A (p.Arg646=) c.1839G>A (p.Arg613=) c.1710G>A (p.Arg570=) c.1701G>A (p.Arg567=) c.1506G>A (p.Arg502=) | |
15 | g.50242417C>A | CA392376982 | HDC | c.1832G>T (p.Arg611Met) c.1733G>T (p.Arg578Met) n.1576G>T c.1595G>T (p.Arg532Met) c.1400G>T (p.Arg467Met) c.1937G>T (p.Arg646Met) c.1838G>T (p.Arg613Met) c.1709G>T (p.Arg570Met) c.1700G>T (p.Arg567Met) c.1505G>T (p.Arg502Met) | dbSNP |
15 | g.50242417C>G | CA392376983 | HDC | c.1832G>C (p.Arg611Thr) c.1733G>C (p.Arg578Thr) n.1576G>C c.1595G>C (p.Arg532Thr) c.1400G>C (p.Arg467Thr) c.1937G>C (p.Arg646Thr) c.1838G>C (p.Arg613Thr) c.1709G>C (p.Arg570Thr) c.1700G>C (p.Arg567Thr) c.1505G>C (p.Arg502Thr) | |
15 | g.50242417C>T | CA392376981 | HDC | c.1832G>A (p.Arg611Lys) c.1733G>A (p.Arg578Lys) n.1576G>A c.1595G>A (p.Arg532Lys) c.1400G>A (p.Arg467Lys) c.1937G>A (p.Arg646Lys) c.1838G>A (p.Arg613Lys) c.1709G>A (p.Arg570Lys) c.1700G>A (p.Arg567Lys) c.1505G>A (p.Arg502Lys) | |
15 | g.50242418T>A | CA392376984 | HDC | c.1831A>T (p.Arg611Trp) c.1732A>T (p.Arg578Trp) n.1575A>T c.1594A>T (p.Arg532Trp) c.1399A>T (p.Arg467Trp) c.1936A>T (p.Arg646Trp) c.1837A>T (p.Arg613Trp) c.1708A>T (p.Arg570Trp) c.1699A>T (p.Arg567Trp) c.1504A>T (p.Arg502Trp) | |
15 | g.50242418T>C | CA392376985 | HDC | c.1831A>G (p.Arg611Gly) c.1732A>G (p.Arg578Gly) n.1575A>G c.1594A>G (p.Arg532Gly) c.1399A>G (p.Arg467Gly) c.1936A>G (p.Arg646Gly) c.1837A>G (p.Arg613Gly) c.1708A>G (p.Arg570Gly) c.1699A>G (p.Arg567Gly) c.1504A>G (p.Arg502Gly) | gnomAD v4 |
15 | g.50242418T>G | CA490314018 | HDC | c.1831A>C (p.Arg611=) c.1732A>C (p.Arg578=) n.1575A>C c.1594A>C (p.Arg532=) c.1399A>C (p.Arg467=) c.1936A>C (p.Arg646=) c.1837A>C (p.Arg613=) c.1708A>C (p.Arg570=) c.1699A>C (p.Arg567=) c.1504A>C (p.Arg502=) | |
15 | g.50242419G>A | CA490314019 | HDC | c.1830C>T (p.Ser610=) c.1731C>T (p.Ser577=) n.1574C>T c.1593C>T (p.Ser531=) c.1398C>T (p.Ser466=) c.1935C>T (p.Ser645=) c.1836C>T (p.Ser612=) c.1707C>T (p.Ser569=) c.1698C>T (p.Ser566=) c.1503C>T (p.Ser501=) | gnomAD v4 |
15 | g.50242419G>C | CA490314020 | HDC | c.1830C>G (p.Ser610=) c.1731C>G (p.Ser577=) n.1574C>G c.1593C>G (p.Ser531=) c.1398C>G (p.Ser466=) c.1935C>G (p.Ser645=) c.1836C>G (p.Ser612=) c.1707C>G (p.Ser569=) c.1698C>G (p.Ser566=) c.1503C>G (p.Ser501=) | |
15 | g.50242419G>T | CA490314021 | HDC | c.1830C>A (p.Ser610=) c.1731C>A (p.Ser577=) n.1574C>A c.1593C>A (p.Ser531=) c.1398C>A (p.Ser466=) c.1935C>A (p.Ser645=) c.1836C>A (p.Ser612=) c.1707C>A (p.Ser569=) c.1698C>A (p.Ser566=) c.1503C>A (p.Ser501=) | |
15 | g.50242420del | CA2628396235 | HDC | c.1830del (p.Arg611GlyfsTer12) c.1731del (p.Arg578GlyfsTer12) n.1574del c.1593del (p.Arg532GlyfsTer12) c.1398del (p.Arg467GlyfsTer12) c.1935del (p.Arg646GlyfsTer12) c.1836del (p.Arg613GlyfsTer12) c.1707del (p.Arg570GlyfsTer12) c.1698del (p.Arg567GlyfsTer12) c.1503del (p.Arg502GlyfsTer12) | gnomAD v4 |
15 | g.50242420G>A | CA7554487 | HDC | c.1829C>T (p.Ser610Phe) c.1730C>T (p.Ser577Phe) n.1573C>T c.1592C>T (p.Ser531Phe) c.1397C>T (p.Ser466Phe) c.1934C>T (p.Ser645Phe) c.1835C>T (p.Ser612Phe) c.1706C>T (p.Ser569Phe) c.1697C>T (p.Ser566Phe) c.1502C>T (p.Ser501Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242420G>C | CA392376986 | HDC | c.1829C>G (p.Ser610Cys) c.1730C>G (p.Ser577Cys) n.1573C>G c.1592C>G (p.Ser531Cys) c.1397C>G (p.Ser466Cys) c.1934C>G (p.Ser645Cys) c.1835C>G (p.Ser612Cys) c.1706C>G (p.Ser569Cys) c.1697C>G (p.Ser566Cys) c.1502C>G (p.Ser501Cys) | |
15 | g.50242420G= | CA2176326586 | HDC | c.1829C= (p.Ser610=) c.1730C= (p.Ser577=) n.1573C= c.1592C= (p.Ser531=) c.1397C= (p.Ser466=) c.1934C= (p.Ser645=) c.1835C= (p.Ser612=) c.1706C= (p.Ser569=) c.1697C= (p.Ser566=) c.1502C= (p.Ser501=) | |
15 | g.50242420G>T | CA392376987 | HDC | c.1829C>A (p.Ser610Tyr) c.1730C>A (p.Ser577Tyr) n.1573C>A c.1592C>A (p.Ser531Tyr) c.1397C>A (p.Ser466Tyr) c.1934C>A (p.Ser645Tyr) c.1835C>A (p.Ser612Tyr) c.1706C>A (p.Ser569Tyr) c.1697C>A (p.Ser566Tyr) c.1502C>A (p.Ser501Tyr) | |
15 | g.50242421A= | CA2176326587 | HDC | c.1828T= (p.Ser610=) c.1729T= (p.Ser577=) n.1572T= c.1591T= (p.Ser531=) c.1396T= (p.Ser466=) c.1933T= (p.Ser645=) c.1834T= (p.Ser612=) c.1705T= (p.Ser569=) c.1696T= (p.Ser566=) c.1501T= (p.Ser501=) | |
15 | g.50242421A>C | CA392376990 | HDC | c.1828T>G (p.Ser610Ala) c.1729T>G (p.Ser577Ala) n.1572T>G c.1591T>G (p.Ser531Ala) c.1396T>G (p.Ser466Ala) c.1933T>G (p.Ser645Ala) c.1834T>G (p.Ser612Ala) c.1705T>G (p.Ser569Ala) c.1696T>G (p.Ser566Ala) c.1501T>G (p.Ser501Ala) | |
15 | g.50242421A>G | CA392376989 | HDC | c.1828T>C (p.Ser610Pro) c.1729T>C (p.Ser577Pro) n.1572T>C c.1591T>C (p.Ser531Pro) c.1396T>C (p.Ser466Pro) c.1933T>C (p.Ser645Pro) c.1834T>C (p.Ser612Pro) c.1705T>C (p.Ser569Pro) c.1696T>C (p.Ser566Pro) c.1501T>C (p.Ser501Pro) | dbSNP |
15 | g.50242421A>T | CA392376988 | HDC | c.1828T>A (p.Ser610Thr) c.1729T>A (p.Ser577Thr) n.1572T>A c.1591T>A (p.Ser531Thr) c.1396T>A (p.Ser466Thr) c.1933T>A (p.Ser645Thr) c.1834T>A (p.Ser612Thr) c.1705T>A (p.Ser569Thr) c.1696T>A (p.Ser566Thr) c.1501T>A (p.Ser501Thr) | |
15 | g.50242422G>A | CA490314027 | HDC | c.1827C>T (p.Ser609=) c.1728C>T (p.Ser576=) n.1571C>T c.1590C>T (p.Ser530=) c.1395C>T (p.Ser465=) c.1932C>T (p.Ser644=) c.1833C>T (p.Ser611=) c.1704C>T (p.Ser568=) c.1695C>T (p.Ser565=) c.1500C>T (p.Ser500=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.50242422G>C | CA490314025 | HDC | c.1827C>G (p.Ser609=) c.1728C>G (p.Ser576=) n.1571C>G c.1590C>G (p.Ser530=) c.1395C>G (p.Ser465=) c.1932C>G (p.Ser644=) c.1833C>G (p.Ser611=) c.1704C>G (p.Ser568=) c.1695C>G (p.Ser565=) c.1500C>G (p.Ser500=) | |
15 | g.50242422G= | CA2176326588 | HDC | c.1827C= (p.Ser609=) c.1728C= (p.Ser576=) n.1571C= c.1590C= (p.Ser530=) c.1395C= (p.Ser465=) c.1932C= (p.Ser644=) c.1833C= (p.Ser611=) c.1704C= (p.Ser568=) c.1695C= (p.Ser565=) c.1500C= (p.Ser500=) | |
15 | g.50242422G>T | CA490314026 | HDC | c.1827C>A (p.Ser609=) c.1728C>A (p.Ser576=) n.1571C>A c.1590C>A (p.Ser530=) c.1395C>A (p.Ser465=) c.1932C>A (p.Ser644=) c.1833C>A (p.Ser611=) c.1704C>A (p.Ser568=) c.1695C>A (p.Ser565=) c.1500C>A (p.Ser500=) | gnomAD v4 |
15 | g.50242423del | CA2628396240 | HDC | c.1827del (p.Ser610ProfsTer13) c.1728del (p.Ser577ProfsTer13) n.1571del c.1590del (p.Ser531ProfsTer13) c.1395del (p.Ser466ProfsTer13) c.1932del (p.Ser645ProfsTer13) c.1833del (p.Ser612ProfsTer13) c.1704del (p.Ser569ProfsTer13) c.1695del (p.Ser566ProfsTer13) c.1500del (p.Ser501ProfsTer13) | gnomAD v4 |
15 | g.50242423G>A | CA7554488 | HDC | c.1826C>T (p.Ser609Phe) c.1727C>T (p.Ser576Phe) n.1570C>T c.1589C>T (p.Ser530Phe) c.1394C>T (p.Ser465Phe) c.1931C>T (p.Ser644Phe) c.1832C>T (p.Ser611Phe) c.1703C>T (p.Ser568Phe) c.1694C>T (p.Ser565Phe) c.1499C>T (p.Ser500Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242423G>C | CA392376991 | HDC | c.1826C>G (p.Ser609Cys) c.1727C>G (p.Ser576Cys) n.1570C>G c.1589C>G (p.Ser530Cys) c.1394C>G (p.Ser465Cys) c.1931C>G (p.Ser644Cys) c.1832C>G (p.Ser611Cys) c.1703C>G (p.Ser568Cys) c.1694C>G (p.Ser565Cys) c.1499C>G (p.Ser500Cys) | |
15 | g.50242423G= | CA2176326589 | HDC | c.1826C= (p.Ser609=) c.1727C= (p.Ser576=) n.1570C= c.1589C= (p.Ser530=) c.1394C= (p.Ser465=) c.1931C= (p.Ser644=) c.1832C= (p.Ser611=) c.1703C= (p.Ser568=) c.1694C= (p.Ser565=) c.1499C= (p.Ser500=) | |
15 | g.50242423G>T | CA392376992 | HDC | c.1826C>A (p.Ser609Tyr) c.1727C>A (p.Ser576Tyr) n.1570C>A c.1589C>A (p.Ser530Tyr) c.1394C>A (p.Ser465Tyr) c.1931C>A (p.Ser644Tyr) c.1832C>A (p.Ser611Tyr) c.1703C>A (p.Ser568Tyr) c.1694C>A (p.Ser565Tyr) c.1499C>A (p.Ser500Tyr) | |
15 | g.50242424A>C | CA392376993 | HDC | c.1825T>G (p.Ser609Ala) c.1726T>G (p.Ser576Ala) n.1569T>G c.1588T>G (p.Ser530Ala) c.1393T>G (p.Ser465Ala) c.1930T>G (p.Ser644Ala) c.1831T>G (p.Ser611Ala) c.1702T>G (p.Ser568Ala) c.1693T>G (p.Ser565Ala) c.1498T>G (p.Ser500Ala) | COSMIC |
15 | g.50242424A>G | CA392376994 | HDC | c.1825T>C (p.Ser609Pro) c.1726T>C (p.Ser576Pro) n.1569T>C c.1588T>C (p.Ser530Pro) c.1393T>C (p.Ser465Pro) c.1930T>C (p.Ser644Pro) c.1831T>C (p.Ser611Pro) c.1702T>C (p.Ser568Pro) c.1693T>C (p.Ser565Pro) c.1498T>C (p.Ser500Pro) | |
15 | g.50242424A>T | CA392376995 | HDC | c.1825T>A (p.Ser609Thr) c.1726T>A (p.Ser576Thr) n.1569T>A c.1588T>A (p.Ser530Thr) c.1393T>A (p.Ser465Thr) c.1930T>A (p.Ser644Thr) c.1831T>A (p.Ser611Thr) c.1702T>A (p.Ser568Thr) c.1693T>A (p.Ser565Thr) c.1498T>A (p.Ser500Thr) | |
15 | g.50242425G>A | CA490314029 | HDC | c.1824C>T (p.Gly608=) c.1725C>T (p.Gly575=) n.1568C>T c.1587C>T (p.Gly529=) c.1392C>T (p.Gly464=) c.1929C>T (p.Gly643=) c.1830C>T (p.Gly610=) c.1701C>T (p.Gly567=) c.1692C>T (p.Gly564=) c.1497C>T (p.Gly499=) | dbSNP |
15 | g.50242425G>C | CA490314030 | HDC | c.1824C>G (p.Gly608=) c.1725C>G (p.Gly575=) n.1568C>G c.1587C>G (p.Gly529=) c.1392C>G (p.Gly464=) c.1929C>G (p.Gly643=) c.1830C>G (p.Gly610=) c.1701C>G (p.Gly567=) c.1692C>G (p.Gly564=) c.1497C>G (p.Gly499=) | |
15 | g.50242425G= | CA2176326590 | HDC | c.1824C= (p.Gly608=) c.1725C= (p.Gly575=) n.1568C= c.1587C= (p.Gly529=) c.1392C= (p.Gly464=) c.1929C= (p.Gly643=) c.1830C= (p.Gly610=) c.1701C= (p.Gly567=) c.1692C= (p.Gly564=) c.1497C= (p.Gly499=) | |
15 | g.50242425G>T | CA490314031 | HDC | c.1824C>A (p.Gly608=) c.1725C>A (p.Gly575=) n.1568C>A c.1587C>A (p.Gly529=) c.1392C>A (p.Gly464=) c.1929C>A (p.Gly643=) c.1830C>A (p.Gly610=) c.1701C>A (p.Gly567=) c.1692C>A (p.Gly564=) c.1497C>A (p.Gly499=) | |
15 | g.50242426C>A | CA392376998 | HDC | c.1823G>T (p.Gly608Val) c.1724G>T (p.Gly575Val) n.1567G>T c.1586G>T (p.Gly529Val) c.1391G>T (p.Gly464Val) c.1928G>T (p.Gly643Val) c.1829G>T (p.Gly610Val) c.1700G>T (p.Gly567Val) c.1691G>T (p.Gly564Val) c.1496G>T (p.Gly499Val) | |
15 | g.50242426C= | CA2176326591 | HDC | c.1823G= (p.Gly608=) c.1724G= (p.Gly575=) n.1567G= c.1586G= (p.Gly529=) c.1391G= (p.Gly464=) c.1928G= (p.Gly643=) c.1829G= (p.Gly610=) c.1700G= (p.Gly567=) c.1691G= (p.Gly564=) c.1496G= (p.Gly499=) | |
15 | g.50242426C>G | CA392376996 | HDC | c.1823G>C (p.Gly608Ala) c.1724G>C (p.Gly575Ala) n.1567G>C c.1586G>C (p.Gly529Ala) c.1391G>C (p.Gly464Ala) c.1928G>C (p.Gly643Ala) c.1829G>C (p.Gly610Ala) c.1700G>C (p.Gly567Ala) c.1691G>C (p.Gly564Ala) c.1496G>C (p.Gly499Ala) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.50242426C>T | CA392376997 | HDC | c.1823G>A (p.Gly608Asp) c.1724G>A (p.Gly575Asp) n.1567G>A c.1586G>A (p.Gly529Asp) c.1391G>A (p.Gly464Asp) c.1928G>A (p.Gly643Asp) c.1829G>A (p.Gly610Asp) c.1700G>A (p.Gly567Asp) c.1691G>A (p.Gly564Asp) c.1496G>A (p.Gly499Asp) | dbSNP gnomAD v4 |
15 | g.50242427C>A | CA392376999 | HDC | c.1822G>T (p.Gly608Cys) c.1723G>T (p.Gly575Cys) n.1566G>T c.1585G>T (p.Gly529Cys) c.1390G>T (p.Gly464Cys) c.1927G>T (p.Gly643Cys) c.1828G>T (p.Gly610Cys) c.1699G>T (p.Gly567Cys) c.1690G>T (p.Gly564Cys) c.1495G>T (p.Gly499Cys) | gnomAD v4 |
15 | g.50242427C>G | CA392377000 | HDC | c.1822G>C (p.Gly608Arg) c.1723G>C (p.Gly575Arg) n.1566G>C c.1585G>C (p.Gly529Arg) c.1390G>C (p.Gly464Arg) c.1927G>C (p.Gly643Arg) c.1828G>C (p.Gly610Arg) c.1699G>C (p.Gly567Arg) c.1690G>C (p.Gly564Arg) c.1495G>C (p.Gly499Arg) | |
15 | g.50242427C>T | CA392377001 | HDC | c.1822G>A (p.Gly608Ser) c.1723G>A (p.Gly575Ser) n.1566G>A c.1585G>A (p.Gly529Ser) c.1390G>A (p.Gly464Ser) c.1927G>A (p.Gly643Ser) c.1828G>A (p.Gly610Ser) c.1699G>A (p.Gly567Ser) c.1690G>A (p.Gly564Ser) c.1495G>A (p.Gly499Ser) | |
15 | g.50242428C>A | CA490314038 | HDC | c.1821G>T (p.Gly607=) c.1722G>T (p.Gly574=) n.1565G>T c.1584G>T (p.Gly528=) c.1389G>T (p.Gly463=) c.1926G>T (p.Gly642=) c.1827G>T (p.Gly609=) c.1698G>T (p.Gly566=) c.1689G>T (p.Gly563=) c.1494G>T (p.Gly498=) | |
15 | g.50242428C>G | CA490314036 | HDC | c.1821G>C (p.Gly607=) c.1722G>C (p.Gly574=) n.1565G>C c.1584G>C (p.Gly528=) c.1389G>C (p.Gly463=) c.1926G>C (p.Gly642=) c.1827G>C (p.Gly609=) c.1698G>C (p.Gly566=) c.1689G>C (p.Gly563=) c.1494G>C (p.Gly498=) | |
15 | g.50242428C>T | CA490314037 | HDC | c.1821G>A (p.Gly607=) c.1722G>A (p.Gly574=) n.1565G>A c.1584G>A (p.Gly528=) c.1389G>A (p.Gly463=) c.1926G>A (p.Gly642=) c.1827G>A (p.Gly609=) c.1698G>A (p.Gly566=) c.1689G>A (p.Gly563=) c.1494G>A (p.Gly498=) | |
15 | g.50242429C>A | CA392377002 | HDC | c.1820G>T (p.Gly607Val) c.1721G>T (p.Gly574Val) n.1564G>T c.1583G>T (p.Gly528Val) c.1388G>T (p.Gly463Val) c.1925G>T (p.Gly642Val) c.1826G>T (p.Gly609Val) c.1697G>T (p.Gly566Val) c.1688G>T (p.Gly563Val) c.1493G>T (p.Gly498Val) | |
15 | g.50242429C>G | CA392377003 | HDC | c.1820G>C (p.Gly607Ala) c.1721G>C (p.Gly574Ala) n.1564G>C c.1583G>C (p.Gly528Ala) c.1388G>C (p.Gly463Ala) c.1925G>C (p.Gly642Ala) c.1826G>C (p.Gly609Ala) c.1697G>C (p.Gly566Ala) c.1688G>C (p.Gly563Ala) c.1493G>C (p.Gly498Ala) | gnomAD v4 |
15 | g.50242429C>T | CA392377004 | HDC | c.1820G>A (p.Gly607Glu) c.1721G>A (p.Gly574Glu) n.1564G>A c.1583G>A (p.Gly528Glu) c.1388G>A (p.Gly463Glu) c.1925G>A (p.Gly642Glu) c.1826G>A (p.Gly609Glu) c.1697G>A (p.Gly566Glu) c.1688G>A (p.Gly563Glu) c.1493G>A (p.Gly498Glu) | |
15 | g.50242430C>A | CA392377007 | HDC | c.1819G>T (p.Gly607Trp) c.1720G>T (p.Gly574Trp) n.1563G>T c.1582G>T (p.Gly528Trp) c.1387G>T (p.Gly463Trp) c.1924G>T (p.Gly642Trp) c.1825G>T (p.Gly609Trp) c.1696G>T (p.Gly566Trp) c.1687G>T (p.Gly563Trp) c.1492G>T (p.Gly498Trp) | |
15 | g.50242430C>G | CA392377005 | HDC | c.1819G>C (p.Gly607Arg) c.1720G>C (p.Gly574Arg) n.1563G>C c.1582G>C (p.Gly528Arg) c.1387G>C (p.Gly463Arg) c.1924G>C (p.Gly642Arg) c.1825G>C (p.Gly609Arg) c.1696G>C (p.Gly566Arg) c.1687G>C (p.Gly563Arg) c.1492G>C (p.Gly498Arg) | |
15 | g.50242430C>T | CA392377006 | HDC | c.1819G>A (p.Gly607Arg) c.1720G>A (p.Gly574Arg) n.1563G>A c.1582G>A (p.Gly528Arg) c.1387G>A (p.Gly463Arg) c.1924G>A (p.Gly642Arg) c.1825G>A (p.Gly609Arg) c.1696G>A (p.Gly566Arg) c.1687G>A (p.Gly563Arg) c.1492G>A (p.Gly498Arg) | |
15 | g.50242431A= | CA2176326592 | HDC | c.1818T= (p.Asn606=) c.1719T= (p.Asn573=) n.1562T= c.1581T= (p.Asn527=) c.1386T= (p.Asn462=) c.1923T= (p.Asn641=) c.1824T= (p.Asn608=) c.1695T= (p.Asn565=) c.1686T= (p.Asn562=) c.1491T= (p.Asn497=) | |
15 | g.50242431A>C | CA392377008 | HDC | c.1818T>G (p.Asn606Lys) c.1719T>G (p.Asn573Lys) n.1562T>G c.1581T>G (p.Asn527Lys) c.1386T>G (p.Asn462Lys) c.1923T>G (p.Asn641Lys) c.1824T>G (p.Asn608Lys) c.1695T>G (p.Asn565Lys) c.1686T>G (p.Asn562Lys) c.1491T>G (p.Asn497Lys) | |
15 | g.50242431A>G | CA270413877 | HDC | c.1818T>C (p.Asn606=) c.1719T>C (p.Asn573=) n.1562T>C c.1581T>C (p.Asn527=) c.1386T>C (p.Asn462=) c.1923T>C (p.Asn641=) c.1824T>C (p.Asn608=) c.1695T>C (p.Asn565=) c.1686T>C (p.Asn562=) c.1491T>C (p.Asn497=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.50242431A>T | CA392377009 | HDC | c.1818T>A (p.Asn606Lys) c.1719T>A (p.Asn573Lys) n.1562T>A c.1581T>A (p.Asn527Lys) c.1386T>A (p.Asn462Lys) c.1923T>A (p.Asn641Lys) c.1824T>A (p.Asn608Lys) c.1695T>A (p.Asn565Lys) c.1686T>A (p.Asn562Lys) c.1491T>A (p.Asn497Lys) | |
15 | g.50242432T>A | CA392377010 | HDC | c.1817A>T (p.Asn606Ile) c.1718A>T (p.Asn573Ile) n.1561A>T c.1580A>T (p.Asn527Ile) c.1385A>T (p.Asn462Ile) c.1922A>T (p.Asn641Ile) c.1823A>T (p.Asn608Ile) c.1694A>T (p.Asn565Ile) c.1685A>T (p.Asn562Ile) c.1490A>T (p.Asn497Ile) | |
15 | g.50242432T>C | CA392377011 | HDC | c.1817A>G (p.Asn606Ser) c.1718A>G (p.Asn573Ser) n.1561A>G c.1580A>G (p.Asn527Ser) c.1385A>G (p.Asn462Ser) c.1922A>G (p.Asn641Ser) c.1823A>G (p.Asn608Ser) c.1694A>G (p.Asn565Ser) c.1685A>G (p.Asn562Ser) c.1490A>G (p.Asn497Ser) | |
15 | g.50242432T>G | CA392377012 | HDC | c.1817A>C (p.Asn606Thr) c.1718A>C (p.Asn573Thr) n.1561A>C c.1580A>C (p.Asn527Thr) c.1385A>C (p.Asn462Thr) c.1922A>C (p.Asn641Thr) c.1823A>C (p.Asn608Thr) c.1694A>C (p.Asn565Thr) c.1685A>C (p.Asn562Thr) c.1490A>C (p.Asn497Thr) | |
15 | g.50242433T>A | CA392377013 | HDC | c.1816A>T (p.Asn606Tyr) c.1717A>T (p.Asn573Tyr) n.1560A>T c.1579A>T (p.Asn527Tyr) c.1384A>T (p.Asn462Tyr) c.1921A>T (p.Asn641Tyr) c.1822A>T (p.Asn608Tyr) c.1693A>T (p.Asn565Tyr) c.1684A>T (p.Asn562Tyr) c.1489A>T (p.Asn497Tyr) | |
15 | g.50242433T>C | CA392377015 | HDC | c.1816A>G (p.Asn606Asp) c.1717A>G (p.Asn573Asp) n.1560A>G c.1579A>G (p.Asn527Asp) c.1384A>G (p.Asn462Asp) c.1921A>G (p.Asn641Asp) c.1822A>G (p.Asn608Asp) c.1693A>G (p.Asn565Asp) c.1684A>G (p.Asn562Asp) c.1489A>G (p.Asn497Asp) | |
15 | g.50242433T>G | CA392377014 | HDC | c.1816A>C (p.Asn606His) c.1717A>C (p.Asn573His) n.1560A>C c.1579A>C (p.Asn527His) c.1384A>C (p.Asn462His) c.1921A>C (p.Asn641His) c.1822A>C (p.Asn608His) c.1693A>C (p.Asn565His) c.1684A>C (p.Asn562His) c.1489A>C (p.Asn497His) | |
15 | g.50242434C>A | CA392377016 | HDC | c.1815G>T (p.Lys605Asn) c.1716G>T (p.Lys572Asn) n.1559G>T c.1578G>T (p.Lys526Asn) c.1383G>T (p.Lys461Asn) c.1920G>T (p.Lys640Asn) c.1821G>T (p.Lys607Asn) c.1692G>T (p.Lys564Asn) c.1683G>T (p.Lys561Asn) c.1488G>T (p.Lys496Asn) | |
15 | g.50242434C>G | CA392377017 | HDC | c.1815G>C (p.Lys605Asn) c.1716G>C (p.Lys572Asn) n.1559G>C c.1578G>C (p.Lys526Asn) c.1383G>C (p.Lys461Asn) c.1920G>C (p.Lys640Asn) c.1821G>C (p.Lys607Asn) c.1692G>C (p.Lys564Asn) c.1683G>C (p.Lys561Asn) c.1488G>C (p.Lys496Asn) | COSMIC |
15 | g.50242434C>T | CA490314043 | HDC | c.1815G>A (p.Lys605=) c.1716G>A (p.Lys572=) n.1559G>A c.1578G>A (p.Lys526=) c.1383G>A (p.Lys461=) c.1920G>A (p.Lys640=) c.1821G>A (p.Lys607=) c.1692G>A (p.Lys564=) c.1683G>A (p.Lys561=) c.1488G>A (p.Lys496=) | |
15 | g.50242435T>A | CA392377018 | HDC | c.1814A>T (p.Lys605Met) c.1715A>T (p.Lys572Met) n.1558A>T c.1577A>T (p.Lys526Met) c.1382A>T (p.Lys461Met) c.1919A>T (p.Lys640Met) c.1820A>T (p.Lys607Met) c.1691A>T (p.Lys564Met) c.1682A>T (p.Lys561Met) c.1487A>T (p.Lys496Met) | |
15 | g.50242435T>C | CA392377019 | HDC | c.1814A>G (p.Lys605Arg) c.1715A>G (p.Lys572Arg) n.1558A>G c.1577A>G (p.Lys526Arg) c.1382A>G (p.Lys461Arg) c.1919A>G (p.Lys640Arg) c.1820A>G (p.Lys607Arg) c.1691A>G (p.Lys564Arg) c.1682A>G (p.Lys561Arg) c.1487A>G (p.Lys496Arg) | |
15 | g.50242435T>G | CA392377020 | HDC | c.1814A>C (p.Lys605Thr) c.1715A>C (p.Lys572Thr) n.1558A>C c.1577A>C (p.Lys526Thr) c.1382A>C (p.Lys461Thr) c.1919A>C (p.Lys640Thr) c.1820A>C (p.Lys607Thr) c.1691A>C (p.Lys564Thr) c.1682A>C (p.Lys561Thr) c.1487A>C (p.Lys496Thr) | |
15 | g.50242436T>A | CA392377023 | HDC | c.1813A>T (p.Lys605Ter) c.1714A>T (p.Lys572Ter) n.1557A>T c.1576A>T (p.Lys526Ter) c.1381A>T (p.Lys461Ter) c.1918A>T (p.Lys640Ter) c.1819A>T (p.Lys607Ter) c.1690A>T (p.Lys564Ter) c.1681A>T (p.Lys561Ter) c.1486A>T (p.Lys496Ter) | |
15 | g.50242436T>C | CA392377022 | HDC | c.1813A>G (p.Lys605Glu) c.1714A>G (p.Lys572Glu) n.1557A>G c.1576A>G (p.Lys526Glu) c.1381A>G (p.Lys461Glu) c.1918A>G (p.Lys640Glu) c.1819A>G (p.Lys607Glu) c.1690A>G (p.Lys564Glu) c.1681A>G (p.Lys561Glu) c.1486A>G (p.Lys496Glu) | |
15 | g.50242436T>G | CA392377021 | HDC | c.1813A>C (p.Lys605Gln) c.1714A>C (p.Lys572Gln) n.1557A>C c.1576A>C (p.Lys526Gln) c.1381A>C (p.Lys461Gln) c.1918A>C (p.Lys640Gln) c.1819A>C (p.Lys607Gln) c.1690A>C (p.Lys564Gln) c.1681A>C (p.Lys561Gln) c.1486A>C (p.Lys496Gln) | |
15 | g.50242437C>A | CA490314048 | HDC | c.1812G>T (p.Val604=) c.1713G>T (p.Val571=) n.1556G>T c.1575G>T (p.Val525=) c.1380G>T (p.Val460=) c.1917G>T (p.Val639=) c.1818G>T (p.Val606=) c.1689G>T (p.Val563=) c.1680G>T (p.Val560=) c.1485G>T (p.Val495=) | |
15 | g.50242437C= | CA2176326593 | HDC | c.1812G= (p.Val604=) c.1713G= (p.Val571=) n.1556G= c.1575G= (p.Val525=) c.1380G= (p.Val460=) c.1917G= (p.Val639=) c.1818G= (p.Val606=) c.1689G= (p.Val563=) c.1680G= (p.Val560=) c.1485G= (p.Val495=) | |
15 | g.50242437C>G | CA490314049 | HDC | c.1812G>C (p.Val604=) c.1713G>C (p.Val571=) n.1556G>C c.1575G>C (p.Val525=) c.1380G>C (p.Val460=) c.1917G>C (p.Val639=) c.1818G>C (p.Val606=) c.1689G>C (p.Val563=) c.1680G>C (p.Val560=) c.1485G>C (p.Val495=) | |
15 | g.50242437C>T | CA490314050 | HDC | c.1812G>A (p.Val604=) c.1713G>A (p.Val571=) n.1556G>A c.1575G>A (p.Val525=) c.1380G>A (p.Val460=) c.1917G>A (p.Val639=) c.1818G>A (p.Val606=) c.1689G>A (p.Val563=) c.1680G>A (p.Val560=) c.1485G>A (p.Val495=) | dbSNP |
15 | g.50242438A>C | CA392377024 | HDC | c.1811T>G (p.Val604Gly) c.1712T>G (p.Val571Gly) n.1555T>G c.1574T>G (p.Val525Gly) c.1379T>G (p.Val460Gly) c.1916T>G (p.Val639Gly) c.1817T>G (p.Val606Gly) c.1688T>G (p.Val563Gly) c.1679T>G (p.Val560Gly) c.1484T>G (p.Val495Gly) | |
15 | g.50242438A>G | CA392377025 | HDC | c.1811T>C (p.Val604Ala) c.1712T>C (p.Val571Ala) n.1555T>C c.1574T>C (p.Val525Ala) c.1379T>C (p.Val460Ala) c.1916T>C (p.Val639Ala) c.1817T>C (p.Val606Ala) c.1688T>C (p.Val563Ala) c.1679T>C (p.Val560Ala) c.1484T>C (p.Val495Ala) | |
15 | g.50242438A>T | CA392377026 | HDC | c.1811T>A (p.Val604Glu) c.1712T>A (p.Val571Glu) n.1555T>A c.1574T>A (p.Val525Glu) c.1379T>A (p.Val460Glu) c.1916T>A (p.Val639Glu) c.1817T>A (p.Val606Glu) c.1688T>A (p.Val563Glu) c.1679T>A (p.Val560Glu) c.1484T>A (p.Val495Glu) | |
15 | g.50242439C>A | CA392377027 | HDC | c.1810G>T (p.Val604Leu) c.1711G>T (p.Val571Leu) n.1554G>T c.1573G>T (p.Val525Leu) c.1378G>T (p.Val460Leu) c.1915G>T (p.Val639Leu) c.1816G>T (p.Val606Leu) c.1687G>T (p.Val563Leu) c.1678G>T (p.Val560Leu) c.1483G>T (p.Val495Leu) | |
15 | g.50242439C>G | CA392377028 | HDC | c.1810G>C (p.Val604Leu) c.1711G>C (p.Val571Leu) n.1554G>C c.1573G>C (p.Val525Leu) c.1378G>C (p.Val460Leu) c.1915G>C (p.Val639Leu) c.1816G>C (p.Val606Leu) c.1687G>C (p.Val563Leu) c.1678G>C (p.Val560Leu) c.1483G>C (p.Val495Leu) | |
15 | g.50242439C>T | CA392377029 | HDC | c.1810G>A (p.Val604Met) c.1711G>A (p.Val571Met) n.1554G>A c.1573G>A (p.Val525Met) c.1378G>A (p.Val460Met) c.1915G>A (p.Val639Met) c.1816G>A (p.Val606Met) c.1687G>A (p.Val563Met) c.1678G>A (p.Val560Met) c.1483G>A (p.Val495Met) | |
15 | g.50242440A= | CA2176326594 | HDC | c.1809T= (p.Ser603=) c.1710T= (p.Ser570=) n.1553T= c.1572T= (p.Ser524=) c.1377T= (p.Ser459=) c.1914T= (p.Ser638=) c.1815T= (p.Ser605=) c.1686T= (p.Ser562=) c.1677T= (p.Ser559=) c.1482T= (p.Ser494=) | |
15 | g.50242440A>C | CA490314054 | HDC | c.1809T>G (p.Ser603=) c.1710T>G (p.Ser570=) n.1553T>G c.1572T>G (p.Ser524=) c.1377T>G (p.Ser459=) c.1914T>G (p.Ser638=) c.1815T>G (p.Ser605=) c.1686T>G (p.Ser562=) c.1677T>G (p.Ser559=) c.1482T>G (p.Ser494=) | |
15 | g.50242440A>G | CA490314055 | HDC | c.1809T>C (p.Ser603=) c.1710T>C (p.Ser570=) n.1553T>C c.1572T>C (p.Ser524=) c.1377T>C (p.Ser459=) c.1914T>C (p.Ser638=) c.1815T>C (p.Ser605=) c.1686T>C (p.Ser562=) c.1677T>C (p.Ser559=) c.1482T>C (p.Ser494=) | dbSNP |
15 | g.50242440A>T | CA490314057 | HDC | c.1809T>A (p.Ser603=) c.1710T>A (p.Ser570=) n.1553T>A c.1572T>A (p.Ser524=) c.1377T>A (p.Ser459=) c.1914T>A (p.Ser638=) c.1815T>A (p.Ser605=) c.1686T>A (p.Ser562=) c.1677T>A (p.Ser559=) c.1482T>A (p.Ser494=) | |
15 | g.50242441G>A | CA392377030 | HDC | c.1808C>T (p.Ser603Phe) c.1709C>T (p.Ser570Phe) n.1552C>T c.1571C>T (p.Ser524Phe) c.1376C>T (p.Ser459Phe) c.1913C>T (p.Ser638Phe) c.1814C>T (p.Ser605Phe) c.1685C>T (p.Ser562Phe) c.1676C>T (p.Ser559Phe) c.1481C>T (p.Ser494Phe) | |
15 | g.50242441G>C | CA392377032 | HDC | c.1808C>G (p.Ser603Cys) c.1709C>G (p.Ser570Cys) n.1552C>G c.1571C>G (p.Ser524Cys) c.1376C>G (p.Ser459Cys) c.1913C>G (p.Ser638Cys) c.1814C>G (p.Ser605Cys) c.1685C>G (p.Ser562Cys) c.1676C>G (p.Ser559Cys) c.1481C>G (p.Ser494Cys) | |
15 | g.50242441G>T | CA392377031 | HDC | c.1808C>A (p.Ser603Tyr) c.1709C>A (p.Ser570Tyr) n.1552C>A c.1571C>A (p.Ser524Tyr) c.1376C>A (p.Ser459Tyr) c.1913C>A (p.Ser638Tyr) c.1814C>A (p.Ser605Tyr) c.1685C>A (p.Ser562Tyr) c.1676C>A (p.Ser559Tyr) c.1481C>A (p.Ser494Tyr) | |
15 | g.50242442A>C | CA392377033 | HDC | c.1807T>G (p.Ser603Ala) c.1708T>G (p.Ser570Ala) n.1551T>G c.1570T>G (p.Ser524Ala) c.1375T>G (p.Ser459Ala) c.1912T>G (p.Ser638Ala) c.1813T>G (p.Ser605Ala) c.1684T>G (p.Ser562Ala) c.1675T>G (p.Ser559Ala) c.1480T>G (p.Ser494Ala) | |
15 | g.50242442A>G | CA392377034 | HDC | c.1807T>C (p.Ser603Pro) c.1708T>C (p.Ser570Pro) n.1551T>C c.1570T>C (p.Ser524Pro) c.1375T>C (p.Ser459Pro) c.1912T>C (p.Ser638Pro) c.1813T>C (p.Ser605Pro) c.1684T>C (p.Ser562Pro) c.1675T>C (p.Ser559Pro) c.1480T>C (p.Ser494Pro) | |
15 | g.50242442A>T | CA392377035 | HDC | c.1807T>A (p.Ser603Thr) c.1708T>A (p.Ser570Thr) n.1551T>A c.1570T>A (p.Ser524Thr) c.1375T>A (p.Ser459Thr) c.1912T>A (p.Ser638Thr) c.1813T>A (p.Ser605Thr) c.1684T>A (p.Ser562Thr) c.1675T>A (p.Ser559Thr) c.1480T>A (p.Ser494Thr) | |
15 | g.50242443G>A | CA490314061 | HDC | c.1806C>T (p.Ala602=) c.1707C>T (p.Ala569=) n.1550C>T c.1569C>T (p.Ala523=) c.1374C>T (p.Ala458=) c.1911C>T (p.Ala637=) c.1812C>T (p.Ala604=) c.1683C>T (p.Ala561=) c.1674C>T (p.Ala558=) c.1479C>T (p.Ala493=) | |
15 | g.50242443G>C | CA490314062 | HDC | c.1806C>G (p.Ala602=) c.1707C>G (p.Ala569=) n.1550C>G c.1569C>G (p.Ala523=) c.1374C>G (p.Ala458=) c.1911C>G (p.Ala637=) c.1812C>G (p.Ala604=) c.1683C>G (p.Ala561=) c.1674C>G (p.Ala558=) c.1479C>G (p.Ala493=) | |
15 | g.50242443G>T | CA490314064 | HDC | c.1806C>A (p.Ala602=) c.1707C>A (p.Ala569=) n.1550C>A c.1569C>A (p.Ala523=) c.1374C>A (p.Ala458=) c.1911C>A (p.Ala637=) c.1812C>A (p.Ala604=) c.1683C>A (p.Ala561=) c.1674C>A (p.Ala558=) c.1479C>A (p.Ala493=) | |
15 | g.50242444G>A | CA270413881 | HDC | c.1805C>T (p.Ala602Val) c.1706C>T (p.Ala569Val) n.1549C>T c.1568C>T (p.Ala523Val) c.1373C>T (p.Ala458Val) c.1910C>T (p.Ala637Val) c.1811C>T (p.Ala604Val) c.1682C>T (p.Ala561Val) c.1673C>T (p.Ala558Val) c.1478C>T (p.Ala493Val) | dbSNP |
15 | g.50242444G>C | CA392377036 | HDC | c.1805C>G (p.Ala602Gly) c.1706C>G (p.Ala569Gly) n.1549C>G c.1568C>G (p.Ala523Gly) c.1373C>G (p.Ala458Gly) c.1910C>G (p.Ala637Gly) c.1811C>G (p.Ala604Gly) c.1682C>G (p.Ala561Gly) c.1673C>G (p.Ala558Gly) c.1478C>G (p.Ala493Gly) | |
15 | g.50242444G= | CA2176326595 | HDC | c.1805C= (p.Ala602=) c.1706C= (p.Ala569=) n.1549C= c.1568C= (p.Ala523=) c.1373C= (p.Ala458=) c.1910C= (p.Ala637=) c.1811C= (p.Ala604=) c.1682C= (p.Ala561=) c.1673C= (p.Ala558=) c.1478C= (p.Ala493=) | |
15 | g.50242444G>T | CA392377037 | HDC | c.1805C>A (p.Ala602Asp) c.1706C>A (p.Ala569Asp) n.1549C>A c.1568C>A (p.Ala523Asp) c.1373C>A (p.Ala458Asp) c.1910C>A (p.Ala637Asp) c.1811C>A (p.Ala604Asp) c.1682C>A (p.Ala561Asp) c.1673C>A (p.Ala558Asp) c.1478C>A (p.Ala493Asp) | |
15 | g.50242445C>A | CA392377038 | HDC | c.1804G>T (p.Ala602Ser) c.1705G>T (p.Ala569Ser) n.1548G>T c.1567G>T (p.Ala523Ser) c.1372G>T (p.Ala458Ser) c.1909G>T (p.Ala637Ser) c.1810G>T (p.Ala604Ser) c.1681G>T (p.Ala561Ser) c.1672G>T (p.Ala558Ser) c.1477G>T (p.Ala493Ser) | gnomAD v4 |
15 | g.50242445C>G | CA392377039 | HDC | c.1804G>C (p.Ala602Pro) c.1705G>C (p.Ala569Pro) n.1548G>C c.1567G>C (p.Ala523Pro) c.1372G>C (p.Ala458Pro) c.1909G>C (p.Ala637Pro) c.1810G>C (p.Ala604Pro) c.1681G>C (p.Ala561Pro) c.1672G>C (p.Ala558Pro) c.1477G>C (p.Ala493Pro) | |
15 | g.50242445C>T | CA392377040 | HDC | c.1804G>A (p.Ala602Thr) c.1705G>A (p.Ala569Thr) n.1548G>A c.1567G>A (p.Ala523Thr) c.1372G>A (p.Ala458Thr) c.1909G>A (p.Ala637Thr) c.1810G>A (p.Ala604Thr) c.1681G>A (p.Ala561Thr) c.1672G>A (p.Ala558Thr) c.1477G>A (p.Ala493Thr) | gnomAD v4 COSMIC |
15 | g.50242446C>A | CA392377041 | HDC | c.1803G>T (p.Glu601Asp) c.1704G>T (p.Glu568Asp) n.1547G>T c.1566G>T (p.Glu522Asp) c.1371G>T (p.Glu457Asp) c.1908G>T (p.Glu636Asp) c.1809G>T (p.Glu603Asp) c.1680G>T (p.Glu560Asp) c.1671G>T (p.Glu557Asp) c.1476G>T (p.Glu492Asp) | |
15 | g.50242446C>G | CA392377042 | HDC | c.1803G>C (p.Glu601Asp) c.1704G>C (p.Glu568Asp) n.1547G>C c.1566G>C (p.Glu522Asp) c.1371G>C (p.Glu457Asp) c.1908G>C (p.Glu636Asp) c.1809G>C (p.Glu603Asp) c.1680G>C (p.Glu560Asp) c.1671G>C (p.Glu557Asp) c.1476G>C (p.Glu492Asp) | |
15 | g.50242446C>T | CA490314072 | HDC | c.1803G>A (p.Glu601=) c.1704G>A (p.Glu568=) n.1547G>A c.1566G>A (p.Glu522=) c.1371G>A (p.Glu457=) c.1908G>A (p.Glu636=) c.1809G>A (p.Glu603=) c.1680G>A (p.Glu560=) c.1671G>A (p.Glu557=) c.1476G>A (p.Glu492=) | |
15 | g.50242447T>A | CA392377045 | HDC | c.1802A>T (p.Glu601Val) c.1703A>T (p.Glu568Val) n.1546A>T c.1565A>T (p.Glu522Val) c.1370A>T (p.Glu457Val) c.1907A>T (p.Glu636Val) c.1808A>T (p.Glu603Val) c.1679A>T (p.Glu560Val) c.1670A>T (p.Glu557Val) c.1475A>T (p.Glu492Val) | |
15 | g.50242447T>C | CA392377043 | HDC | c.1802A>G (p.Glu601Gly) c.1703A>G (p.Glu568Gly) n.1546A>G c.1565A>G (p.Glu522Gly) c.1370A>G (p.Glu457Gly) c.1907A>G (p.Glu636Gly) c.1808A>G (p.Glu603Gly) c.1679A>G (p.Glu560Gly) c.1670A>G (p.Glu557Gly) c.1475A>G (p.Glu492Gly) | |
15 | g.50242447T>G | CA392377044 | HDC | c.1802A>C (p.Glu601Ala) c.1703A>C (p.Glu568Ala) n.1546A>C c.1565A>C (p.Glu522Ala) c.1370A>C (p.Glu457Ala) c.1907A>C (p.Glu636Ala) c.1808A>C (p.Glu603Ala) c.1679A>C (p.Glu560Ala) c.1670A>C (p.Glu557Ala) c.1475A>C (p.Glu492Ala) | |
15 | g.50242448C>A | CA392377046 | HDC | c.1801G>T (p.Glu601Ter) c.1702G>T (p.Glu568Ter) n.1545G>T c.1564G>T (p.Glu522Ter) c.1369G>T (p.Glu457Ter) c.1906G>T (p.Glu636Ter) c.1807G>T (p.Glu603Ter) c.1678G>T (p.Glu560Ter) c.1669G>T (p.Glu557Ter) c.1474G>T (p.Glu492Ter) | |
15 | g.50242448C= | CA2176326596 | HDC | c.1801G= (p.Glu601=) c.1702G= (p.Glu568=) n.1545G= c.1564G= (p.Glu522=) c.1369G= (p.Glu457=) c.1906G= (p.Glu636=) c.1807G= (p.Glu603=) c.1678G= (p.Glu560=) c.1669G= (p.Glu557=) c.1474G= (p.Glu492=) | |
15 | g.50242448C>G | CA392377048 | HDC | c.1801G>C (p.Glu601Gln) c.1702G>C (p.Glu568Gln) n.1545G>C c.1564G>C (p.Glu522Gln) c.1369G>C (p.Glu457Gln) c.1906G>C (p.Glu636Gln) c.1807G>C (p.Glu603Gln) c.1678G>C (p.Glu560Gln) c.1669G>C (p.Glu557Gln) c.1474G>C (p.Glu492Gln) | |
15 | g.50242448C>T | CA392377047 | HDC | c.1801G>A (p.Glu601Lys) c.1702G>A (p.Glu568Lys) n.1545G>A c.1564G>A (p.Glu522Lys) c.1369G>A (p.Glu457Lys) c.1906G>A (p.Glu636Lys) c.1807G>A (p.Glu603Lys) c.1678G>A (p.Glu560Lys) c.1669G>A (p.Glu557Lys) c.1474G>A (p.Glu492Lys) | dbSNP |
15 | g.50242449T>A | CA490314078 | HDC | c.1800A>T (p.Thr600=) c.1701A>T (p.Thr567=) n.1544A>T c.1563A>T (p.Thr521=) c.1368A>T (p.Thr456=) c.1905A>T (p.Thr635=) c.1806A>T (p.Thr602=) c.1677A>T (p.Thr559=) c.1668A>T (p.Thr556=) c.1473A>T (p.Thr491=) | |
15 | g.50242449T>C | CA490314081 | HDC | c.1800A>G (p.Thr600=) c.1701A>G (p.Thr567=) n.1544A>G c.1563A>G (p.Thr521=) c.1368A>G (p.Thr456=) c.1905A>G (p.Thr635=) c.1806A>G (p.Thr602=) c.1677A>G (p.Thr559=) c.1668A>G (p.Thr556=) c.1473A>G (p.Thr491=) | |
15 | g.50242449T>G | CA490314080 | HDC | c.1800A>C (p.Thr600=) c.1701A>C (p.Thr567=) n.1544A>C c.1563A>C (p.Thr521=) c.1368A>C (p.Thr456=) c.1905A>C (p.Thr635=) c.1806A>C (p.Thr602=) c.1677A>C (p.Thr559=) c.1668A>C (p.Thr556=) c.1473A>C (p.Thr491=) | |
15 | g.50242450G>A | CA7554489 | HDC | c.1799C>T (p.Thr600Ile) c.1700C>T (p.Thr567Ile) n.1543C>T c.1562C>T (p.Thr521Ile) c.1367C>T (p.Thr456Ile) c.1904C>T (p.Thr635Ile) c.1805C>T (p.Thr602Ile) c.1676C>T (p.Thr559Ile) c.1667C>T (p.Thr556Ile) c.1472C>T (p.Thr491Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242450G>C | CA392377049 | HDC | c.1799C>G (p.Thr600Arg) c.1700C>G (p.Thr567Arg) n.1543C>G c.1562C>G (p.Thr521Arg) c.1367C>G (p.Thr456Arg) c.1904C>G (p.Thr635Arg) c.1805C>G (p.Thr602Arg) c.1676C>G (p.Thr559Arg) c.1667C>G (p.Thr556Arg) c.1472C>G (p.Thr491Arg) | |
15 | g.50242450G= | CA2176326597 | HDC | c.1799C= (p.Thr600=) c.1700C= (p.Thr567=) n.1543C= c.1562C= (p.Thr521=) c.1367C= (p.Thr456=) c.1904C= (p.Thr635=) c.1805C= (p.Thr602=) c.1676C= (p.Thr559=) c.1667C= (p.Thr556=) c.1472C= (p.Thr491=) | |
15 | g.50242450G>T | CA392377050 | HDC | c.1799C>A (p.Thr600Lys) c.1700C>A (p.Thr567Lys) n.1543C>A c.1562C>A (p.Thr521Lys) c.1367C>A (p.Thr456Lys) c.1904C>A (p.Thr635Lys) c.1805C>A (p.Thr602Lys) c.1676C>A (p.Thr559Lys) c.1667C>A (p.Thr556Lys) c.1472C>A (p.Thr491Lys) | |
15 | g.50242451T>A | CA392377051 | HDC | c.1798A>T (p.Thr600Ser) c.1699A>T (p.Thr567Ser) n.1542A>T c.1561A>T (p.Thr521Ser) c.1366A>T (p.Thr456Ser) c.1903A>T (p.Thr635Ser) c.1804A>T (p.Thr602Ser) c.1675A>T (p.Thr559Ser) c.1666A>T (p.Thr556Ser) c.1471A>T (p.Thr491Ser) | |
15 | g.50242451T>C | CA392377052 | HDC | c.1798A>G (p.Thr600Ala) c.1699A>G (p.Thr567Ala) n.1542A>G c.1561A>G (p.Thr521Ala) c.1366A>G (p.Thr456Ala) c.1903A>G (p.Thr635Ala) c.1804A>G (p.Thr602Ala) c.1675A>G (p.Thr559Ala) c.1666A>G (p.Thr556Ala) c.1471A>G (p.Thr491Ala) | |
15 | g.50242451T>G | CA392377053 | HDC | c.1798A>C (p.Thr600Pro) c.1699A>C (p.Thr567Pro) n.1542A>C c.1561A>C (p.Thr521Pro) c.1366A>C (p.Thr456Pro) c.1903A>C (p.Thr635Pro) c.1804A>C (p.Thr602Pro) c.1675A>C (p.Thr559Pro) c.1666A>C (p.Thr556Pro) c.1471A>C (p.Thr491Pro) | |
15 | g.50242452G>A | CA490314084 | HDC | c.1797C>T (p.Pro599=) c.1698C>T (p.Pro566=) n.1541C>T c.1560C>T (p.Pro520=) c.1365C>T (p.Pro455=) c.1902C>T (p.Pro634=) c.1803C>T (p.Pro601=) c.1674C>T (p.Pro558=) c.1665C>T (p.Pro555=) c.1470C>T (p.Pro490=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.50242452G>C | CA490314086 | HDC | c.1797C>G (p.Pro599=) c.1698C>G (p.Pro566=) n.1541C>G c.1560C>G (p.Pro520=) c.1365C>G (p.Pro455=) c.1902C>G (p.Pro634=) c.1803C>G (p.Pro601=) c.1674C>G (p.Pro558=) c.1665C>G (p.Pro555=) c.1470C>G (p.Pro490=) | |
15 | g.50242452G= | CA2176326598 | HDC | c.1797C= (p.Pro599=) c.1698C= (p.Pro566=) n.1541C= c.1560C= (p.Pro520=) c.1365C= (p.Pro455=) c.1902C= (p.Pro634=) c.1803C= (p.Pro601=) c.1674C= (p.Pro558=) c.1665C= (p.Pro555=) c.1470C= (p.Pro490=) | |
15 | g.50242452G>T | CA490314088 | HDC | c.1797C>A (p.Pro599=) c.1698C>A (p.Pro566=) n.1541C>A c.1560C>A (p.Pro520=) c.1365C>A (p.Pro455=) c.1902C>A (p.Pro634=) c.1803C>A (p.Pro601=) c.1674C>A (p.Pro558=) c.1665C>A (p.Pro555=) c.1470C>A (p.Pro490=) | |
15 | g.50242453G>A | CA392377054 | HDC | c.1796C>T (p.Pro599Leu) c.1697C>T (p.Pro566Leu) n.1540C>T c.1559C>T (p.Pro520Leu) c.1364C>T (p.Pro455Leu) c.1901C>T (p.Pro634Leu) c.1802C>T (p.Pro601Leu) c.1673C>T (p.Pro558Leu) c.1664C>T (p.Pro555Leu) c.1469C>T (p.Pro490Leu) | gnomAD v4 |
15 | g.50242453G>C | CA392377055 | HDC | c.1796C>G (p.Pro599Arg) c.1697C>G (p.Pro566Arg) n.1540C>G c.1559C>G (p.Pro520Arg) c.1364C>G (p.Pro455Arg) c.1901C>G (p.Pro634Arg) c.1802C>G (p.Pro601Arg) c.1673C>G (p.Pro558Arg) c.1664C>G (p.Pro555Arg) c.1469C>G (p.Pro490Arg) | |
15 | g.50242453G>T | CA392377056 | HDC | c.1796C>A (p.Pro599His) c.1697C>A (p.Pro566His) n.1540C>A c.1559C>A (p.Pro520His) c.1364C>A (p.Pro455His) c.1901C>A (p.Pro634His) c.1802C>A (p.Pro601His) c.1673C>A (p.Pro558His) c.1664C>A (p.Pro555His) c.1469C>A (p.Pro490His) | |
15 | g.50242454G>A | CA392377057 | HDC | c.1795C>T (p.Pro599Ser) c.1696C>T (p.Pro566Ser) n.1539C>T c.1558C>T (p.Pro520Ser) c.1363C>T (p.Pro455Ser) c.1900C>T (p.Pro634Ser) c.1801C>T (p.Pro601Ser) c.1672C>T (p.Pro558Ser) c.1663C>T (p.Pro555Ser) c.1468C>T (p.Pro490Ser) | dbSNP gnomAD v4 |
15 | g.50242454G>C | CA392377058 | HDC | c.1795C>G (p.Pro599Ala) c.1696C>G (p.Pro566Ala) n.1539C>G c.1558C>G (p.Pro520Ala) c.1363C>G (p.Pro455Ala) c.1900C>G (p.Pro634Ala) c.1801C>G (p.Pro601Ala) c.1672C>G (p.Pro558Ala) c.1663C>G (p.Pro555Ala) c.1468C>G (p.Pro490Ala) | gnomAD v4 |
15 | g.50242454G= | CA2176326599 | HDC | c.1795C= (p.Pro599=) c.1696C= (p.Pro566=) n.1539C= c.1558C= (p.Pro520=) c.1363C= (p.Pro455=) c.1900C= (p.Pro634=) c.1801C= (p.Pro601=) c.1672C= (p.Pro558=) c.1663C= (p.Pro555=) c.1468C= (p.Pro490=) | |
15 | g.50242454G>T | CA392377059 | HDC | c.1795C>A (p.Pro599Thr) c.1696C>A (p.Pro566Thr) n.1539C>A c.1558C>A (p.Pro520Thr) c.1363C>A (p.Pro455Thr) c.1900C>A (p.Pro634Thr) c.1801C>A (p.Pro601Thr) c.1672C>A (p.Pro558Thr) c.1663C>A (p.Pro555Thr) c.1468C>A (p.Pro490Thr) | |
15 | g.50242455C>A | CA490314090 | HDC | c.1794G>T (p.Leu598=) c.1695G>T (p.Leu565=) n.1538G>T c.1557G>T (p.Leu519=) c.1362G>T (p.Leu454=) c.1899G>T (p.Leu633=) c.1800G>T (p.Leu600=) c.1671G>T (p.Leu557=) c.1662G>T (p.Leu554=) c.1467G>T (p.Leu489=) | |
15 | g.50242455C= | CA2176326600 | HDC | c.1794G= (p.Leu598=) c.1695G= (p.Leu565=) n.1538G= c.1557G= (p.Leu519=) c.1362G= (p.Leu454=) c.1899G= (p.Leu633=) c.1800G= (p.Leu600=) c.1671G= (p.Leu557=) c.1662G= (p.Leu554=) c.1467G= (p.Leu489=) | |
15 | g.50242455C>G | CA490314091 | HDC | c.1794G>C (p.Leu598=) c.1695G>C (p.Leu565=) n.1538G>C c.1557G>C (p.Leu519=) c.1362G>C (p.Leu454=) c.1899G>C (p.Leu633=) c.1800G>C (p.Leu600=) c.1671G>C (p.Leu557=) c.1662G>C (p.Leu554=) c.1467G>C (p.Leu489=) | |
15 | g.50242455C>T | CA7554490 | HDC | c.1794G>A (p.Leu598=) c.1695G>A (p.Leu565=) n.1538G>A c.1557G>A (p.Leu519=) c.1362G>A (p.Leu454=) c.1899G>A (p.Leu633=) c.1800G>A (p.Leu600=) c.1671G>A (p.Leu557=) c.1662G>A (p.Leu554=) c.1467G>A (p.Leu489=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242456A>C | CA392377060 | HDC | c.1793T>G (p.Leu598Arg) c.1694T>G (p.Leu565Arg) n.1537T>G c.1556T>G (p.Leu519Arg) c.1361T>G (p.Leu454Arg) c.1898T>G (p.Leu633Arg) c.1799T>G (p.Leu600Arg) c.1670T>G (p.Leu557Arg) c.1661T>G (p.Leu554Arg) c.1466T>G (p.Leu489Arg) | |
15 | g.50242456A>G | CA392377061 | HDC | c.1793T>C (p.Leu598Pro) c.1694T>C (p.Leu565Pro) n.1537T>C c.1556T>C (p.Leu519Pro) c.1361T>C (p.Leu454Pro) c.1898T>C (p.Leu633Pro) c.1799T>C (p.Leu600Pro) c.1670T>C (p.Leu557Pro) c.1661T>C (p.Leu554Pro) c.1466T>C (p.Leu489Pro) | |
15 | g.50242456A>T | CA392377062 | HDC | c.1793T>A (p.Leu598Gln) c.1694T>A (p.Leu565Gln) n.1537T>A c.1556T>A (p.Leu519Gln) c.1361T>A (p.Leu454Gln) c.1898T>A (p.Leu633Gln) c.1799T>A (p.Leu600Gln) c.1670T>A (p.Leu557Gln) c.1661T>A (p.Leu554Gln) c.1466T>A (p.Leu489Gln) | gnomAD v4 |
15 | g.50242457G>A | CA7554491 | HDC | c.1792C>T (p.Leu598=) c.1693C>T (p.Leu565=) n.1536C>T c.1555C>T (p.Leu519=) c.1360C>T (p.Leu454=) c.1897C>T (p.Leu633=) c.1798C>T (p.Leu600=) c.1669C>T (p.Leu557=) c.1660C>T (p.Leu554=) c.1465C>T (p.Leu489=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242457G>C | CA392377063 | HDC | c.1792C>G (p.Leu598Val) c.1693C>G (p.Leu565Val) n.1536C>G c.1555C>G (p.Leu519Val) c.1360C>G (p.Leu454Val) c.1897C>G (p.Leu633Val) c.1798C>G (p.Leu600Val) c.1669C>G (p.Leu557Val) c.1660C>G (p.Leu554Val) c.1465C>G (p.Leu489Val) | |
15 | g.50242457G= | CA2176326601 | HDC | c.1792C= (p.Leu598=) c.1693C= (p.Leu565=) n.1536C= c.1555C= (p.Leu519=) c.1360C= (p.Leu454=) c.1897C= (p.Leu633=) c.1798C= (p.Leu600=) c.1669C= (p.Leu557=) c.1660C= (p.Leu554=) c.1465C= (p.Leu489=) | |
15 | g.50242457G>T | CA392377064 | HDC | c.1792C>A (p.Leu598Met) c.1693C>A (p.Leu565Met) n.1536C>A c.1555C>A (p.Leu519Met) c.1360C>A (p.Leu454Met) c.1897C>A (p.Leu633Met) c.1798C>A (p.Leu600Met) c.1669C>A (p.Leu557Met) c.1660C>A (p.Leu554Met) c.1465C>A (p.Leu489Met) | |
15 | g.50242458T>A | CA490314095 | HDC | c.1791A>T (p.Pro597=) c.1692A>T (p.Pro564=) n.1535A>T c.1554A>T (p.Pro518=) c.1359A>T (p.Pro453=) c.1896A>T (p.Pro632=) c.1797A>T (p.Pro599=) c.1668A>T (p.Pro556=) c.1659A>T (p.Pro553=) c.1464A>T (p.Pro488=) | |
15 | g.50242458T>C | CA490314096 | HDC | c.1791A>G (p.Pro597=) c.1692A>G (p.Pro564=) n.1535A>G c.1554A>G (p.Pro518=) c.1359A>G (p.Pro453=) c.1896A>G (p.Pro632=) c.1797A>G (p.Pro599=) c.1668A>G (p.Pro556=) c.1659A>G (p.Pro553=) c.1464A>G (p.Pro488=) | |
15 | g.50242458T>G | CA490314097 | HDC | c.1791A>C (p.Pro597=) c.1692A>C (p.Pro564=) n.1535A>C c.1554A>C (p.Pro518=) c.1359A>C (p.Pro453=) c.1896A>C (p.Pro632=) c.1797A>C (p.Pro599=) c.1668A>C (p.Pro556=) c.1659A>C (p.Pro553=) c.1464A>C (p.Pro488=) | |
15 | g.50242459G>A | CA392377065 | HDC | c.1790C>T (p.Pro597Leu) c.1691C>T (p.Pro564Leu) n.1534C>T c.1553C>T (p.Pro518Leu) c.1358C>T (p.Pro453Leu) c.1895C>T (p.Pro632Leu) c.1796C>T (p.Pro599Leu) c.1667C>T (p.Pro556Leu) c.1658C>T (p.Pro553Leu) c.1463C>T (p.Pro488Leu) | gnomAD v4 |
15 | g.50242459G>C | CA392377066 | HDC | c.1790C>G (p.Pro597Arg) c.1691C>G (p.Pro564Arg) n.1534C>G c.1553C>G (p.Pro518Arg) c.1358C>G (p.Pro453Arg) c.1895C>G (p.Pro632Arg) c.1796C>G (p.Pro599Arg) c.1667C>G (p.Pro556Arg) c.1658C>G (p.Pro553Arg) c.1463C>G (p.Pro488Arg) | |
15 | g.50242459G>T | CA392377067 | HDC | c.1790C>A (p.Pro597Gln) c.1691C>A (p.Pro564Gln) n.1534C>A c.1553C>A (p.Pro518Gln) c.1358C>A (p.Pro453Gln) c.1895C>A (p.Pro632Gln) c.1796C>A (p.Pro599Gln) c.1667C>A (p.Pro556Gln) c.1658C>A (p.Pro553Gln) c.1463C>A (p.Pro488Gln) | |
15 | g.50242460G>A | CA392377068 | HDC | c.1789C>T (p.Pro597Ser) c.1690C>T (p.Pro564Ser) n.1533C>T c.1552C>T (p.Pro518Ser) c.1357C>T (p.Pro453Ser) c.1894C>T (p.Pro632Ser) c.1795C>T (p.Pro599Ser) c.1666C>T (p.Pro556Ser) c.1657C>T (p.Pro553Ser) c.1462C>T (p.Pro488Ser) | |
15 | g.50242460G>C | CA392377069 | HDC | c.1789C>G (p.Pro597Ala) c.1690C>G (p.Pro564Ala) n.1533C>G c.1552C>G (p.Pro518Ala) c.1357C>G (p.Pro453Ala) c.1894C>G (p.Pro632Ala) c.1795C>G (p.Pro599Ala) c.1666C>G (p.Pro556Ala) c.1657C>G (p.Pro553Ala) c.1462C>G (p.Pro488Ala) | dbSNP |
15 | g.50242460G= | CA2176326602 | HDC | c.1789C= (p.Pro597=) c.1690C= (p.Pro564=) n.1533C= c.1552C= (p.Pro518=) c.1357C= (p.Pro453=) c.1894C= (p.Pro632=) c.1795C= (p.Pro599=) c.1666C= (p.Pro556=) c.1657C= (p.Pro553=) c.1462C= (p.Pro488=) | |
15 | g.50242460G>T | CA392377070 | HDC | c.1789C>A (p.Pro597Thr) c.1690C>A (p.Pro564Thr) n.1533C>A c.1552C>A (p.Pro518Thr) c.1357C>A (p.Pro453Thr) c.1894C>A (p.Pro632Thr) c.1795C>A (p.Pro599Thr) c.1666C>A (p.Pro556Thr) c.1657C>A (p.Pro553Thr) c.1462C>A (p.Pro488Thr) | |
15 | g.50242461C>A | CA392377071 | HDC | c.1788G>T (p.Lys596Asn) c.1689G>T (p.Lys563Asn) n.1532G>T c.1551G>T (p.Lys517Asn) c.1356G>T (p.Lys452Asn) c.1893G>T (p.Lys631Asn) c.1794G>T (p.Lys598Asn) c.1665G>T (p.Lys555Asn) c.1656G>T (p.Lys552Asn) c.1461G>T (p.Lys487Asn) | |
15 | g.50242461C= | CA2176326603 | HDC | c.1788G= (p.Lys596=) c.1689G= (p.Lys563=) n.1532G= c.1551G= (p.Lys517=) c.1356G= (p.Lys452=) c.1893G= (p.Lys631=) c.1794G= (p.Lys598=) c.1665G= (p.Lys555=) c.1656G= (p.Lys552=) c.1461G= (p.Lys487=) | |
15 | g.50242461C>G | CA7554492 | HDC | c.1788G>C (p.Lys596Asn) c.1689G>C (p.Lys563Asn) n.1532G>C c.1551G>C (p.Lys517Asn) c.1356G>C (p.Lys452Asn) c.1893G>C (p.Lys631Asn) c.1794G>C (p.Lys598Asn) c.1665G>C (p.Lys555Asn) c.1656G>C (p.Lys552Asn) c.1461G>C (p.Lys487Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242461C>T | CA490314099 | HDC | c.1788G>A (p.Lys596=) c.1689G>A (p.Lys563=) n.1532G>A c.1551G>A (p.Lys517=) c.1356G>A (p.Lys452=) c.1893G>A (p.Lys631=) c.1794G>A (p.Lys598=) c.1665G>A (p.Lys555=) c.1656G>A (p.Lys552=) c.1461G>A (p.Lys487=) | gnomAD v4 |
15 | g.50242462T>A | CA392377073 | HDC | c.1787A>T (p.Lys596Met) c.1688A>T (p.Lys563Met) n.1531A>T c.1550A>T (p.Lys517Met) c.1355A>T (p.Lys452Met) c.1892A>T (p.Lys631Met) c.1793A>T (p.Lys598Met) c.1664A>T (p.Lys555Met) c.1655A>T (p.Lys552Met) c.1460A>T (p.Lys487Met) | |
15 | g.50242462T>C | CA7554493 | HDC | c.1787A>G (p.Lys596Arg) c.1688A>G (p.Lys563Arg) n.1531A>G c.1550A>G (p.Lys517Arg) c.1355A>G (p.Lys452Arg) c.1892A>G (p.Lys631Arg) c.1793A>G (p.Lys598Arg) c.1664A>G (p.Lys555Arg) c.1655A>G (p.Lys552Arg) c.1460A>G (p.Lys487Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242462T>G | CA392377072 | HDC | c.1787A>C (p.Lys596Thr) c.1688A>C (p.Lys563Thr) n.1531A>C c.1550A>C (p.Lys517Thr) c.1355A>C (p.Lys452Thr) c.1892A>C (p.Lys631Thr) c.1793A>C (p.Lys598Thr) c.1664A>C (p.Lys555Thr) c.1655A>C (p.Lys552Thr) c.1460A>C (p.Lys487Thr) | |
15 | g.50242462T= | CA2176326604 | HDC | c.1787A= (p.Lys596=) c.1688A= (p.Lys563=) n.1531A= c.1550A= (p.Lys517=) c.1355A= (p.Lys452=) c.1892A= (p.Lys631=) c.1793A= (p.Lys598=) c.1664A= (p.Lys555=) c.1655A= (p.Lys552=) c.1460A= (p.Lys487=) | |
15 | g.50242463T>A | CA392377074 | HDC | c.1786A>T (p.Lys596Ter) c.1687A>T (p.Lys563Ter) n.1530A>T c.1549A>T (p.Lys517Ter) c.1354A>T (p.Lys452Ter) c.1891A>T (p.Lys631Ter) c.1792A>T (p.Lys598Ter) c.1663A>T (p.Lys555Ter) c.1654A>T (p.Lys552Ter) c.1459A>T (p.Lys487Ter) | |
15 | g.50242463T>C | CA392377075 | HDC | c.1786A>G (p.Lys596Glu) c.1687A>G (p.Lys563Glu) n.1530A>G c.1549A>G (p.Lys517Glu) c.1354A>G (p.Lys452Glu) c.1891A>G (p.Lys631Glu) c.1792A>G (p.Lys598Glu) c.1663A>G (p.Lys555Glu) c.1654A>G (p.Lys552Glu) c.1459A>G (p.Lys487Glu) | |
15 | g.50242463T>G | CA7554494 | HDC | c.1786A>C (p.Lys596Gln) c.1687A>C (p.Lys563Gln) n.1530A>C c.1549A>C (p.Lys517Gln) c.1354A>C (p.Lys452Gln) c.1891A>C (p.Lys631Gln) c.1792A>C (p.Lys598Gln) c.1663A>C (p.Lys555Gln) c.1654A>C (p.Lys552Gln) c.1459A>C (p.Lys487Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242463T= | CA2176326605 | HDC | c.1786A= (p.Lys596=) c.1687A= (p.Lys563=) n.1530A= c.1549A= (p.Lys517=) c.1354A= (p.Lys452=) c.1891A= (p.Lys631=) c.1792A= (p.Lys598=) c.1663A= (p.Lys555=) c.1654A= (p.Lys552=) c.1459A= (p.Lys487=) | |
15 | g.50242464C>A | CA392377076 | HDC | c.1785G>T (p.Gln595His) c.1686G>T (p.Gln562His) n.1529G>T c.1548G>T (p.Gln516His) c.1353G>T (p.Gln451His) c.1890G>T (p.Gln630His) c.1791G>T (p.Gln597His) c.1662G>T (p.Gln554His) c.1653G>T (p.Gln551His) c.1458G>T (p.Gln486His) | |
15 | g.50242464C= | CA2176326606 | HDC | c.1785G= (p.Gln595=) c.1686G= (p.Gln562=) n.1529G= c.1548G= (p.Gln516=) c.1353G= (p.Gln451=) c.1890G= (p.Gln630=) c.1791G= (p.Gln597=) c.1662G= (p.Gln554=) c.1653G= (p.Gln551=) c.1458G= (p.Gln486=) | |
15 | g.50242464C>G | CA392377077 | HDC | c.1785G>C (p.Gln595His) c.1686G>C (p.Gln562His) n.1529G>C c.1548G>C (p.Gln516His) c.1353G>C (p.Gln451His) c.1890G>C (p.Gln630His) c.1791G>C (p.Gln597His) c.1662G>C (p.Gln554His) c.1653G>C (p.Gln551His) c.1458G>C (p.Gln486His) | |
15 | g.50242464C>T | CA490314101 | HDC | c.1785G>A (p.Gln595=) c.1686G>A (p.Gln562=) n.1529G>A c.1548G>A (p.Gln516=) c.1353G>A (p.Gln451=) c.1890G>A (p.Gln630=) c.1791G>A (p.Gln597=) c.1662G>A (p.Gln554=) c.1653G>A (p.Gln551=) c.1458G>A (p.Gln486=) | dbSNP |
15 | g.50242465T>A | CA392377080 | HDC | c.1784A>T (p.Gln595Leu) c.1685A>T (p.Gln562Leu) n.1528A>T c.1547A>T (p.Gln516Leu) c.1352A>T (p.Gln451Leu) c.1889A>T (p.Gln630Leu) c.1790A>T (p.Gln597Leu) c.1661A>T (p.Gln554Leu) c.1652A>T (p.Gln551Leu) c.1457A>T (p.Gln486Leu) | |
15 | g.50242465T>C | CA392377079 | HDC | c.1784A>G (p.Gln595Arg) c.1685A>G (p.Gln562Arg) n.1528A>G c.1547A>G (p.Gln516Arg) c.1352A>G (p.Gln451Arg) c.1889A>G (p.Gln630Arg) c.1790A>G (p.Gln597Arg) c.1661A>G (p.Gln554Arg) c.1652A>G (p.Gln551Arg) c.1457A>G (p.Gln486Arg) | |
15 | g.50242465T>G | CA392377078 | HDC | c.1784A>C (p.Gln595Pro) c.1685A>C (p.Gln562Pro) n.1528A>C c.1547A>C (p.Gln516Pro) c.1352A>C (p.Gln451Pro) c.1889A>C (p.Gln630Pro) c.1790A>C (p.Gln597Pro) c.1661A>C (p.Gln554Pro) c.1652A>C (p.Gln551Pro) c.1457A>C (p.Gln486Pro) | |
15 | g.50242466G>A | CA392377081 | HDC | c.1783C>T (p.Gln595Ter) c.1684C>T (p.Gln562Ter) n.1527C>T c.1546C>T (p.Gln516Ter) c.1351C>T (p.Gln451Ter) c.1888C>T (p.Gln630Ter) c.1789C>T (p.Gln597Ter) c.1660C>T (p.Gln554Ter) c.1651C>T (p.Gln551Ter) c.1456C>T (p.Gln486Ter) | |
15 | g.50242466G>C | CA392377082 | HDC | c.1783C>G (p.Gln595Glu) c.1684C>G (p.Gln562Glu) n.1527C>G c.1546C>G (p.Gln516Glu) c.1351C>G (p.Gln451Glu) c.1888C>G (p.Gln630Glu) c.1789C>G (p.Gln597Glu) c.1660C>G (p.Gln554Glu) c.1651C>G (p.Gln551Glu) c.1456C>G (p.Gln486Glu) | |
15 | g.50242466G>T | CA392377083 | HDC | c.1783C>A (p.Gln595Lys) c.1684C>A (p.Gln562Lys) n.1527C>A c.1546C>A (p.Gln516Lys) c.1351C>A (p.Gln451Lys) c.1888C>A (p.Gln630Lys) c.1789C>A (p.Gln597Lys) c.1660C>A (p.Gln554Lys) c.1651C>A (p.Gln551Lys) c.1456C>A (p.Gln486Lys) | |
15 | g.50242467A>C | CA490314103 | HDC | c.1782T>G (p.Ala594=) c.1683T>G (p.Ala561=) n.1526T>G c.1545T>G (p.Ala515=) c.1350T>G (p.Ala450=) c.1887T>G (p.Ala629=) c.1788T>G (p.Ala596=) c.1659T>G (p.Ala553=) c.1650T>G (p.Ala550=) c.1455T>G (p.Ala485=) | |
15 | g.50242467A>G | CA490314105 | HDC | c.1782T>C (p.Ala594=) c.1683T>C (p.Ala561=) n.1526T>C c.1545T>C (p.Ala515=) c.1350T>C (p.Ala450=) c.1887T>C (p.Ala629=) c.1788T>C (p.Ala596=) c.1659T>C (p.Ala553=) c.1650T>C (p.Ala550=) c.1455T>C (p.Ala485=) | |
15 | g.50242467A>T | CA490314106 | HDC | c.1782T>A (p.Ala594=) c.1683T>A (p.Ala561=) n.1526T>A c.1545T>A (p.Ala515=) c.1350T>A (p.Ala450=) c.1887T>A (p.Ala629=) c.1788T>A (p.Ala596=) c.1659T>A (p.Ala553=) c.1650T>A (p.Ala550=) c.1455T>A (p.Ala485=) | |
15 | g.50242468G>A | CA392377084 | HDC | c.1781C>T (p.Ala594Val) c.1682C>T (p.Ala561Val) n.1525C>T c.1544C>T (p.Ala515Val) c.1349C>T (p.Ala450Val) c.1886C>T (p.Ala629Val) c.1787C>T (p.Ala596Val) c.1658C>T (p.Ala553Val) c.1649C>T (p.Ala550Val) c.1454C>T (p.Ala485Val) | gnomAD v4 |
15 | g.50242468G>C | CA392377085 | HDC | c.1781C>G (p.Ala594Gly) c.1682C>G (p.Ala561Gly) n.1525C>G c.1544C>G (p.Ala515Gly) c.1349C>G (p.Ala450Gly) c.1886C>G (p.Ala629Gly) c.1787C>G (p.Ala596Gly) c.1658C>G (p.Ala553Gly) c.1649C>G (p.Ala550Gly) c.1454C>G (p.Ala485Gly) | |
15 | g.50242468G>T | CA392377086 | HDC | c.1781C>A (p.Ala594Asp) c.1682C>A (p.Ala561Asp) n.1525C>A c.1544C>A (p.Ala515Asp) c.1349C>A (p.Ala450Asp) c.1886C>A (p.Ala629Asp) c.1787C>A (p.Ala596Asp) c.1658C>A (p.Ala553Asp) c.1649C>A (p.Ala550Asp) c.1454C>A (p.Ala485Asp) | |
15 | g.50242469C>A | CA392377087 | HDC | c.1780G>T (p.Ala594Ser) c.1681G>T (p.Ala561Ser) n.1524G>T c.1543G>T (p.Ala515Ser) c.1348G>T (p.Ala450Ser) c.1885G>T (p.Ala629Ser) c.1786G>T (p.Ala596Ser) c.1657G>T (p.Ala553Ser) c.1648G>T (p.Ala550Ser) c.1453G>T (p.Ala485Ser) | |
15 | g.50242469C>G | CA392377089 | HDC | c.1780G>C (p.Ala594Pro) c.1681G>C (p.Ala561Pro) n.1524G>C c.1543G>C (p.Ala515Pro) c.1348G>C (p.Ala450Pro) c.1885G>C (p.Ala629Pro) c.1786G>C (p.Ala596Pro) c.1657G>C (p.Ala553Pro) c.1648G>C (p.Ala550Pro) c.1453G>C (p.Ala485Pro) | |
15 | g.50242469C>T | CA392377088 | HDC | c.1780G>A (p.Ala594Thr) c.1681G>A (p.Ala561Thr) n.1524G>A c.1543G>A (p.Ala515Thr) c.1348G>A (p.Ala450Thr) c.1885G>A (p.Ala629Thr) c.1786G>A (p.Ala596Thr) c.1657G>A (p.Ala553Thr) c.1648G>A (p.Ala550Thr) c.1453G>A (p.Ala485Thr) | COSMIC |
15 | g.50242470A>C | CA392377090 | HDC | c.1779T>G (p.Ser593Arg) c.1680T>G (p.Ser560Arg) n.1523T>G c.1542T>G (p.Ser514Arg) c.1347T>G (p.Ser449Arg) c.1884T>G (p.Ser628Arg) c.1785T>G (p.Ser595Arg) c.1656T>G (p.Ser552Arg) c.1647T>G (p.Ser549Arg) c.1452T>G (p.Ser484Arg) | gnomAD v4 |
15 | g.50242470A>G | CA490314107 | HDC | c.1779T>C (p.Ser593=) c.1680T>C (p.Ser560=) n.1523T>C c.1542T>C (p.Ser514=) c.1347T>C (p.Ser449=) c.1884T>C (p.Ser628=) c.1785T>C (p.Ser595=) c.1656T>C (p.Ser552=) c.1647T>C (p.Ser549=) c.1452T>C (p.Ser484=) | |
15 | g.50242470A>T | CA392377091 | HDC | c.1779T>A (p.Ser593Arg) c.1680T>A (p.Ser560Arg) n.1523T>A c.1542T>A (p.Ser514Arg) c.1347T>A (p.Ser449Arg) c.1884T>A (p.Ser628Arg) c.1785T>A (p.Ser595Arg) c.1656T>A (p.Ser552Arg) c.1647T>A (p.Ser549Arg) c.1452T>A (p.Ser484Arg) | |
15 | g.50242471C>A | CA392377092 | HDC | c.1778G>T (p.Ser593Ile) c.1679G>T (p.Ser560Ile) n.1522G>T c.1541G>T (p.Ser514Ile) c.1346G>T (p.Ser449Ile) c.1883G>T (p.Ser628Ile) c.1784G>T (p.Ser595Ile) c.1655G>T (p.Ser552Ile) c.1646G>T (p.Ser549Ile) c.1451G>T (p.Ser484Ile) | COSMIC |
15 | g.50242471C= | CA2176326607 | HDC | c.1778G= (p.Ser593=) c.1679G= (p.Ser560=) n.1522G= c.1541G= (p.Ser514=) c.1346G= (p.Ser449=) c.1883G= (p.Ser628=) c.1784G= (p.Ser595=) c.1655G= (p.Ser552=) c.1646G= (p.Ser549=) c.1451G= (p.Ser484=) | |
15 | g.50242471C>G | CA392377093 | HDC | c.1778G>C (p.Ser593Thr) c.1679G>C (p.Ser560Thr) n.1522G>C c.1541G>C (p.Ser514Thr) c.1346G>C (p.Ser449Thr) c.1883G>C (p.Ser628Thr) c.1784G>C (p.Ser595Thr) c.1655G>C (p.Ser552Thr) c.1646G>C (p.Ser549Thr) c.1451G>C (p.Ser484Thr) | |
15 | g.50242471C>T | CA7554495 | HDC | c.1778G>A (p.Ser593Asn) c.1679G>A (p.Ser560Asn) n.1522G>A c.1541G>A (p.Ser514Asn) c.1346G>A (p.Ser449Asn) c.1883G>A (p.Ser628Asn) c.1784G>A (p.Ser595Asn) c.1655G>A (p.Ser552Asn) c.1646G>A (p.Ser549Asn) c.1451G>A (p.Ser484Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242472T>A | CA392377094 | HDC | c.1777A>T (p.Ser593Cys) c.1678A>T (p.Ser560Cys) n.1521A>T c.1540A>T (p.Ser514Cys) c.1345A>T (p.Ser449Cys) c.1882A>T (p.Ser628Cys) c.1783A>T (p.Ser595Cys) c.1654A>T (p.Ser552Cys) c.1645A>T (p.Ser549Cys) c.1450A>T (p.Ser484Cys) | |
15 | g.50242472T>C | CA392377095 | HDC | c.1777A>G (p.Ser593Gly) c.1678A>G (p.Ser560Gly) n.1521A>G c.1540A>G (p.Ser514Gly) c.1345A>G (p.Ser449Gly) c.1882A>G (p.Ser628Gly) c.1783A>G (p.Ser595Gly) c.1654A>G (p.Ser552Gly) c.1645A>G (p.Ser549Gly) c.1450A>G (p.Ser484Gly) | |
15 | g.50242472T>G | CA392377096 | HDC | c.1777A>C (p.Ser593Arg) c.1678A>C (p.Ser560Arg) n.1521A>C c.1540A>C (p.Ser514Arg) c.1345A>C (p.Ser449Arg) c.1882A>C (p.Ser628Arg) c.1783A>C (p.Ser595Arg) c.1654A>C (p.Ser552Arg) c.1645A>C (p.Ser549Arg) c.1450A>C (p.Ser484Arg) | |
15 | g.50242473C>A | CA490314112 | HDC | c.1776G>T (p.Val592=) c.1677G>T (p.Val559=) n.1520G>T c.1539G>T (p.Val513=) c.1344G>T (p.Val448=) c.1881G>T (p.Val627=) c.1782G>T (p.Val594=) c.1653G>T (p.Val551=) c.1644G>T (p.Val548=) c.1449G>T (p.Val483=) | |
15 | g.50242473C>G | CA490314113 | HDC | c.1776G>C (p.Val592=) c.1677G>C (p.Val559=) n.1520G>C c.1539G>C (p.Val513=) c.1344G>C (p.Val448=) c.1881G>C (p.Val627=) c.1782G>C (p.Val594=) c.1653G>C (p.Val551=) c.1644G>C (p.Val548=) c.1449G>C (p.Val483=) | |
15 | g.50242473C>T | CA490314114 | HDC | c.1776G>A (p.Val592=) c.1677G>A (p.Val559=) n.1520G>A c.1539G>A (p.Val513=) c.1344G>A (p.Val448=) c.1881G>A (p.Val627=) c.1782G>A (p.Val594=) c.1653G>A (p.Val551=) c.1644G>A (p.Val548=) c.1449G>A (p.Val483=) | gnomAD v4 |
15 | g.50242474A= | CA2176326608 | HDC | c.1775T= (p.Val592=) c.1676T= (p.Val559=) n.1519T= c.1538T= (p.Val513=) c.1343T= (p.Val448=) c.1880T= (p.Val627=) c.1781T= (p.Val594=) c.1652T= (p.Val551=) c.1643T= (p.Val548=) c.1448T= (p.Val483=) | |
15 | g.50242474A>C | CA392377097 | HDC | c.1775T>G (p.Val592Gly) c.1676T>G (p.Val559Gly) n.1519T>G c.1538T>G (p.Val513Gly) c.1343T>G (p.Val448Gly) c.1880T>G (p.Val627Gly) c.1781T>G (p.Val594Gly) c.1652T>G (p.Val551Gly) c.1643T>G (p.Val548Gly) c.1448T>G (p.Val483Gly) | |
15 | g.50242474A>G | CA392377098 | HDC | c.1775T>C (p.Val592Ala) c.1676T>C (p.Val559Ala) n.1519T>C c.1538T>C (p.Val513Ala) c.1343T>C (p.Val448Ala) c.1880T>C (p.Val627Ala) c.1781T>C (p.Val594Ala) c.1652T>C (p.Val551Ala) c.1643T>C (p.Val548Ala) c.1448T>C (p.Val483Ala) | ClinVar dbSNP gnomAD v4 |
15 | g.50242474A>T | CA392377099 | HDC | c.1775T>A (p.Val592Glu) c.1676T>A (p.Val559Glu) n.1519T>A c.1538T>A (p.Val513Glu) c.1343T>A (p.Val448Glu) c.1880T>A (p.Val627Glu) c.1781T>A (p.Val594Glu) c.1652T>A (p.Val551Glu) c.1643T>A (p.Val548Glu) c.1448T>A (p.Val483Glu) | |
15 | g.50242475C>A | CA392377101 | HDC | c.1774G>T (p.Val592Leu) c.1675G>T (p.Val559Leu) n.1518G>T c.1537G>T (p.Val513Leu) c.1342G>T (p.Val448Leu) c.1879G>T (p.Val627Leu) c.1780G>T (p.Val594Leu) c.1651G>T (p.Val551Leu) c.1642G>T (p.Val548Leu) c.1447G>T (p.Val483Leu) | |
15 | g.50242475C= | CA2176326609 | HDC | c.1774G= (p.Val592=) c.1675G= (p.Val559=) n.1518G= c.1537G= (p.Val513=) c.1342G= (p.Val448=) c.1879G= (p.Val627=) c.1780G= (p.Val594=) c.1651G= (p.Val551=) c.1642G= (p.Val548=) c.1447G= (p.Val483=) | |
15 | g.50242475C>G | CA270413899 | HDC | c.1774G>C (p.Val592Leu) c.1675G>C (p.Val559Leu) n.1518G>C c.1537G>C (p.Val513Leu) c.1342G>C (p.Val448Leu) c.1879G>C (p.Val627Leu) c.1780G>C (p.Val594Leu) c.1651G>C (p.Val551Leu) c.1642G>C (p.Val548Leu) c.1447G>C (p.Val483Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242475C>T | CA392377100 | HDC | c.1774G>A (p.Val592Met) c.1675G>A (p.Val559Met) n.1518G>A c.1537G>A (p.Val513Met) c.1342G>A (p.Val448Met) c.1879G>A (p.Val627Met) c.1780G>A (p.Val594Met) c.1651G>A (p.Val551Met) c.1642G>A (p.Val548Met) c.1447G>A (p.Val483Met) | |
15 | g.50242476T>A | CA490314118 | HDC | c.1773A>T (p.Pro591=) c.1674A>T (p.Pro558=) n.1517A>T c.1536A>T (p.Pro512=) c.1341A>T (p.Pro447=) c.1878A>T (p.Pro626=) c.1779A>T (p.Pro593=) c.1650A>T (p.Pro550=) c.1641A>T (p.Pro547=) c.1446A>T (p.Pro482=) | |
15 | g.50242476T>C | CA490314119 | HDC | c.1773A>G (p.Pro591=) c.1674A>G (p.Pro558=) n.1517A>G c.1536A>G (p.Pro512=) c.1341A>G (p.Pro447=) c.1878A>G (p.Pro626=) c.1779A>G (p.Pro593=) c.1650A>G (p.Pro550=) c.1641A>G (p.Pro547=) c.1446A>G (p.Pro482=) | |
15 | g.50242476T>G | CA490314121 | HDC | c.1773A>C (p.Pro591=) c.1674A>C (p.Pro558=) n.1517A>C c.1536A>C (p.Pro512=) c.1341A>C (p.Pro447=) c.1878A>C (p.Pro626=) c.1779A>C (p.Pro593=) c.1650A>C (p.Pro550=) c.1641A>C (p.Pro547=) c.1446A>C (p.Pro482=) |