| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41758427C>A | CA399492847 | JUP | c.1745G>T (p.Arg582Leu) n.343G>T c.1796G>T (p.Arg599Leu) | |
| 17 | g.41758427C= | CA2260170792 | JUP | c.1745G= (p.Arg582=) n.343G= c.1796G= (p.Arg599=) | |
| 17 | g.41758427C>G | CA399492850 | JUP | c.1745G>C (p.Arg582Pro) n.343G>C c.1796G>C (p.Arg599Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758427C>T | CA290695975 | JUP | c.1745G>A (p.Arg582Gln) n.343G>A c.1796G>A (p.Arg599Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41758428G>A | CA8565142 | JUP | c.1744C>T (p.Arg582Trp) n.342C>T c.1795C>T (p.Arg599Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758428G>C | CA399492853 | JUP | c.1744C>G (p.Arg582Gly) n.342C>G c.1795C>G (p.Arg599Gly) | |
| 17 | g.41758428G= | CA2260170793 | JUP | c.1744C= (p.Arg582=) n.342C= c.1795C= (p.Arg599=) | |
| 17 | g.41758428G>T | CA500022915 | JUP | c.1744C>A (p.Arg582=) n.342C>A c.1795C>A (p.Arg599=) | |
| 17 | g.41758429G>A | CA500022917 | JUP | c.1743C>T (p.Phe581=) n.341C>T c.1794C>T (p.Phe598=) | ClinVar gnomAD v4 |
| 17 | g.41758429G>C | CA290695995 | JUP | c.1743C>G (p.Phe581Leu) n.341C>G c.1794C>G (p.Phe598Leu) | dbSNP |
| 17 | g.41758429G= | CA2260170794 | JUP | c.1743C= (p.Phe581=) n.341C= c.1794C= (p.Phe598=) | |
| 17 | g.41758429G>T | CA399492855 | JUP | c.1743C>A (p.Phe581Leu) n.341C>A c.1794C>A (p.Phe598Leu) | |
| 17 | g.41758430A>C | CA399492857 | JUP | c.1742T>G (p.Phe581Cys) n.340T>G c.1793T>G (p.Phe598Cys) | |
| 17 | g.41758430A>G | CA399492859 | JUP | c.1742T>C (p.Phe581Ser) n.340T>C c.1793T>C (p.Phe598Ser) | |
| 17 | g.41758430A>T | CA399492861 | JUP | c.1742T>A (p.Phe581Tyr) n.340T>A c.1793T>A (p.Phe598Tyr) | |
| 17 | g.41758431A>C | CA399492863 | JUP | c.1741T>G (p.Phe581Val) n.339T>G c.1792T>G (p.Phe598Val) | |
| 17 | g.41758431A>G | CA399492865 | JUP | c.1741T>C (p.Phe581Leu) n.339T>C c.1792T>C (p.Phe598Leu) | |
| 17 | g.41758431A>T | CA399492867 | JUP | c.1741T>A (p.Phe581Ile) n.339T>A c.1792T>A (p.Phe598Ile) | |
| 17 | g.41758432G>A | CA500022918 | JUP | c.1740C>T (p.Ile580=) n.338C>T c.1791C>T (p.Ile597=) | |
| 17 | g.41758432G>C | CA399492869 | JUP | c.1740C>G (p.Ile580Met) n.338C>G c.1791C>G (p.Ile597Met) | |
| 17 | g.41758432G>T | CA500022919 | JUP | c.1740C>A (p.Ile580=) n.338C>A c.1791C>A (p.Ile597=) | gnomAD v4 |
| 17 | g.41758433A>C | CA399492873 | JUP | c.1739T>G (p.Ile580Ser) n.337T>G c.1790T>G (p.Ile597Ser) | |
| 17 | g.41758433A>G | CA399492870 | JUP | c.1739T>C (p.Ile580Thr) n.337T>C c.1790T>C (p.Ile597Thr) | |
| 17 | g.41758433A>T | CA399492872 | JUP | c.1739T>A (p.Ile580Asn) n.337T>A c.1790T>A (p.Ile597Asn) | |
| 17 | g.41758434T>A | CA399492875 | JUP | c.1738A>T (p.Ile580Phe) n.336A>T c.1789A>T (p.Ile597Phe) | ClinVar |
| 17 | g.41758434T>C | CA399492877 | JUP | c.1738A>G (p.Ile580Val) n.336A>G c.1789A>G (p.Ile597Val) | |
| 17 | g.41758434T>G | CA399492879 | JUP | c.1738A>C (p.Ile580Leu) n.336A>C c.1789A>C (p.Ile597Leu) | |
| 17 | g.41758435C>A | CA399492881 | JUP | c.1737G>T (p.Glu579Asp) n.335G>T c.1788G>T (p.Glu596Asp) | |
| 17 | g.41758435C>G | CA399492883 | JUP | c.1737G>C (p.Glu579Asp) n.335G>C c.1788G>C (p.Glu596Asp) | |
| 17 | g.41758435C>T | CA500022923 | JUP | c.1737G>A (p.Glu579=) n.335G>A c.1788G>A (p.Glu596=) | |
| 17 | g.41758436T>A | CA399492885 | JUP | c.1736A>T (p.Glu579Val) n.334A>T c.1787A>T (p.Glu596Val) | |
| 17 | g.41758436T>C | CA399492887 | JUP | c.1736A>G (p.Glu579Gly) n.334A>G c.1787A>G (p.Glu596Gly) | |
| 17 | g.41758436T>G | CA399492889 | JUP | c.1736A>C (p.Glu579Ala) n.334A>C c.1787A>C (p.Glu596Ala) | |
| 17 | g.41758437C>A | CA399492891 | JUP | c.1735G>T (p.Glu579Ter) n.333G>T c.1786G>T (p.Glu596Ter) | |
| 17 | g.41758437C>G | CA399492893 | JUP | c.1735G>C (p.Glu579Gln) n.333G>C c.1786G>C (p.Glu596Gln) | |
| 17 | g.41758437C>T | CA399492895 | JUP | c.1735G>A (p.Glu579Lys) n.333G>A c.1786G>A (p.Glu596Lys) | COSMIC |
| 17 | g.41758438C>A | CA399492901 | JUP | c.1734G>T (p.Met578Ile) n.332G>T c.1785G>T (p.Met595Ile) | |
| 17 | g.41758438C>G | CA399492899 | JUP | c.1734G>C (p.Met578Ile) n.332G>C c.1785G>C (p.Met595Ile) | |
| 17 | g.41758438C>T | CA399492897 | JUP | c.1734G>A (p.Met578Ile) n.332G>A c.1785G>A (p.Met595Ile) | |
| 17 | g.41758439A>C | CA399492906 | JUP | c.1733T>G (p.Met578Arg) n.331T>G c.1784T>G (p.Met595Arg) | |
| 17 | g.41758439A>G | CA399492904 | JUP | c.1733T>C (p.Met578Thr) n.331T>C c.1784T>C (p.Met595Thr) | |
| 17 | g.41758439A>T | CA399492905 | JUP | c.1733T>A (p.Met578Lys) n.331T>A c.1784T>A (p.Met595Lys) | |
| 17 | g.41758440T>A | CA399492908 | JUP | c.1732A>T (p.Met578Leu) n.330A>T c.1783A>T (p.Met595Leu) | |
| 17 | g.41758440T>C | CA399492910 | JUP | c.1732A>G (p.Met578Val) n.330A>G c.1783A>G (p.Met595Val) | dbSNP gnomAD v4 |
| 17 | g.41758440T>G | CA399492912 | JUP | c.1732A>C (p.Met578Leu) n.330A>C c.1783A>C (p.Met595Leu) | |
| 17 | g.41758440T= | CA2260170795 | JUP | c.1732A= (p.Met578=) n.330A= c.1783A= (p.Met595=) | |
| 17 | g.41758441G>A | CA500022928 | JUP | c.1731C>T (p.Arg577=) n.329C>T c.1782C>T (p.Arg594=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758441G>C | CA500022926 | JUP | c.1731C>G (p.Arg577=) n.329C>G c.1782C>G (p.Arg594=) | |
| 17 | g.41758441G= | CA2260170796 | JUP | c.1731C= (p.Arg577=) n.329C= c.1782C= (p.Arg594=) | |
| 17 | g.41758441G>T | CA500022927 | JUP | c.1731C>A (p.Arg577=) n.329C>A c.1782C>A (p.Arg594=) | |
| 17 | g.41758442C>A | CA399492914 | JUP | c.1730G>T (p.Arg577Leu) n.328G>T c.1781G>T (p.Arg594Leu) | ClinVar dbSNP |
| 17 | g.41758442C= | CA2260170797 | JUP | c.1730G= (p.Arg577=) n.328G= c.1781G= (p.Arg594=) | |
| 17 | g.41758442C>G | CA399492916 | JUP | c.1730G>C (p.Arg577Pro) n.328G>C c.1781G>C (p.Arg594Pro) | |
| 17 | g.41758442C>T | CA290695998 | JUP | c.1730G>A (p.Arg577His) n.328G>A c.1781G>A (p.Arg594His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41758443G>A | CA8565143 | JUP | c.1729C>T (p.Arg577Cys) n.327C>T c.1780C>T (p.Arg594Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41758443G>C | CA399492922 | JUP | c.1729C>G (p.Arg577Gly) n.327C>G c.1780C>G (p.Arg594Gly) | |
| 17 | g.41758443G= | CA2260170798 | JUP | c.1729C= (p.Arg577=) n.327C= c.1780C= (p.Arg594=) | |
| 17 | g.41758443G>T | CA399492924 | JUP | c.1729C>A (p.Arg577Ser) n.327C>A c.1780C>A (p.Arg594Ser) | |
| 17 | g.41758444G>A | CA500022932 | JUP | c.1728C>T (p.Asn576=) n.326C>T c.1779C>T (p.Asn593=) | COSMIC |
| 17 | g.41758444G>C | CA399492926 | JUP | c.1728C>G (p.Asn576Lys) n.326C>G c.1779C>G (p.Asn593Lys) | |
| 17 | g.41758444G>T | CA399492928 | JUP | c.1728C>A (p.Asn576Lys) n.326C>A c.1779C>A (p.Asn593Lys) | |
| 17 | g.41758445T>A | CA399492935 | JUP | c.1727A>T (p.Asn576Ile) n.325A>T c.1778A>T (p.Asn593Ile) | |
| 17 | g.41758445T>C | CA399492931 | JUP | c.1727A>G (p.Asn576Ser) n.325A>G c.1778A>G (p.Asn593Ser) | |
| 17 | g.41758445T>G | CA399492933 | JUP | c.1727A>C (p.Asn576Thr) n.325A>C c.1778A>C (p.Asn593Thr) | |
| 17 | g.41758446T>A | CA399492937 | JUP | c.1726A>T (p.Asn576Tyr) n.324A>T c.1777A>T (p.Asn593Tyr) | |
| 17 | g.41758446T>C | CA399492938 | JUP | c.1726A>G (p.Asn576Asp) n.324A>G c.1777A>G (p.Asn593Asp) | |
| 17 | g.41758446T>G | CA399492941 | JUP | c.1726A>C (p.Asn576His) n.324A>C c.1777A>C (p.Asn593His) | |
| 17 | g.41758447C>A | CA399492943 | JUP | c.1725G>T (p.Met575Ile) n.323G>T c.1776G>T (p.Met592Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758447C= | CA2260170799 | JUP | c.1725G= (p.Met575=) n.323G= c.1776G= (p.Met592=) | |
| 17 | g.41758447C>G | CA399492945 | JUP | c.1725G>C (p.Met575Ile) n.323G>C c.1776G>C (p.Met592Ile) | |
| 17 | g.41758447C>T | CA399492947 | JUP | c.1725G>A (p.Met575Ile) n.323G>A c.1776G>A (p.Met592Ile) | |
| 17 | g.41758448A= | CA2260170800 | JUP | c.1724T= (p.Met575=) n.322T= c.1775T= (p.Met592=) | |
| 17 | g.41758448A>C | CA399492949 | JUP | c.1724T>G (p.Met575Arg) n.322T>G c.1775T>G (p.Met592Arg) | |
| 17 | g.41758448A>G | CA399492950 | JUP | c.1724T>C (p.Met575Thr) n.322T>C c.1775T>C (p.Met592Thr) | dbSNP gnomAD v4 |
| 17 | g.41758448A>T | CA399492952 | JUP | c.1724T>A (p.Met575Lys) n.322T>A c.1775T>A (p.Met592Lys) | |
| 17 | g.41758449T>A | CA399492953 | JUP | c.1723A>T (p.Met575Leu) n.321A>T c.1774A>T (p.Met592Leu) | |
| 17 | g.41758449T>C | CA399492955 | JUP | c.1723A>G (p.Met575Val) n.321A>G c.1774A>G (p.Met592Val) | dbSNP gnomAD v4 |
| 17 | g.41758449T>G | CA399492957 | JUP | c.1723A>C (p.Met575Leu) n.321A>C c.1774A>C (p.Met592Leu) | |
| 17 | g.41758449T= | CA2260170801 | JUP | c.1723A= (p.Met575=) n.321A= c.1774A= (p.Met592=) | |
| 17 | g.41758450G>A | CA500022935 | JUP | c.1722C>T (p.Pro574=) n.320C>T c.1773C>T (p.Pro591=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41758450G>C | CA500022936 | JUP | c.1722C>G (p.Pro574=) n.320C>G c.1773C>G (p.Pro591=) | ClinVar dbSNP |
| 17 | g.41758450G= | CA2260170802 | JUP | c.1722C= (p.Pro574=) n.320C= c.1773C= (p.Pro591=) | |
| 17 | g.41758450G>T | CA290695999 | JUP | c.1722C>A (p.Pro574=) n.320C>A c.1773C>A (p.Pro591=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41758451G>A | CA399492961 | JUP | c.1721C>T (p.Pro574Leu) n.319C>T c.1772C>T (p.Pro591Leu) | |
| 17 | g.41758451G>C | CA399492963 | JUP | c.1721C>G (p.Pro574Arg) n.319C>G c.1772C>G (p.Pro591Arg) | |
| 17 | g.41758451G>T | CA399492960 | JUP | c.1721C>A (p.Pro574His) n.319C>A c.1772C>A (p.Pro591His) | |
| 17 | g.41758452G>A | CA399492966 | JUP | c.1720C>T (p.Pro574Ser) n.318C>T c.1771C>T (p.Pro591Ser) | |
| 17 | g.41758452G>C | CA399492968 | JUP | c.1720C>G (p.Pro574Ala) n.318C>G c.1771C>G (p.Pro591Ala) | |
| 17 | g.41758452G>T | CA399492970 | JUP | c.1720C>A (p.Pro574Thr) n.318C>A c.1771C>A (p.Pro591Thr) | |
| 17 | g.41758453G>A | CA8565144 | JUP | c.1719C>T (p.Asp573=) n.317C>T c.1770C>T (p.Asp590=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41758453G>C | CA399492973 | JUP | c.1719C>G (p.Asp573Glu) n.317C>G c.1770C>G (p.Asp590Glu) | |
| 17 | g.41758453G= | CA2260170803 | JUP | c.1719C= (p.Asp573=) n.317C= c.1770C= (p.Asp590=) | |
| 17 | g.41758453G>T | CA399492975 | JUP | c.1719C>A (p.Asp573Glu) n.317C>A c.1770C>A (p.Asp590Glu) | dbSNP gnomAD v4 |
| 17 | g.41758454T>A | CA10650099 | JUP | c.1718A>T (p.Asp573Val) n.316A>T c.1769A>T (p.Asp590Val) | ClinVar dbSNP |
| 17 | g.41758454T>C | CA399492978 | JUP | c.1718A>G (p.Asp573Gly) n.316A>G c.1769A>G (p.Asp590Gly) | gnomAD v4 |
| 17 | g.41758454T>G | CA399492980 | JUP | c.1718A>C (p.Asp573Ala) n.316A>C c.1769A>C (p.Asp590Ala) | |
| 17 | g.41758454T= | CA2260170804 | JUP | c.1718A= (p.Asp573=) n.316A= c.1769A= (p.Asp590=) | |
| 17 | g.41758455C>A | CA290696004 | JUP | c.1717G>T (p.Asp573Tyr) n.315G>T c.1768G>T (p.Asp590Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758455C= | CA2260170805 | JUP | c.1717G= (p.Asp573=) n.315G= c.1768G= (p.Asp590=) | |
| 17 | g.41758455C>G | CA399492983 | JUP | c.1717G>C (p.Asp573His) n.315G>C c.1768G>C (p.Asp590His) | |
| 17 | g.41758455C>T | CA399492985 | JUP | c.1717G>A (p.Asp573Asn) n.315G>A c.1768G>A (p.Asp590Asn) | |
| 17 | g.41758456C>A | CA500022939 | JUP | c.1716G>T (p.Arg572=) n.314G>T c.1767G>T (p.Arg589=) | gnomAD v4 |
| 17 | g.41758456C= | CA2260170806 | JUP | c.1716G= (p.Arg572=) n.314G= c.1767G= (p.Arg589=) | |
| 17 | g.41758456C>G | CA500022940 | JUP | c.1716G>C (p.Arg572=) n.314G>C c.1767G>C (p.Arg589=) | |
| 17 | g.41758456C>T | CA290696014 | JUP | c.1716G>A (p.Arg572=) n.314G>A c.1767G>A (p.Arg589=) | dbSNP gnomAD v4 |
| 17 | g.41758457C>A | CA137156 | JUP | c.1715G>T (p.Arg572Leu) n.313G>T c.1766G>T (p.Arg589Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41758457C= | CA2260170807 | JUP | c.1715G= (p.Arg572=) n.313G= c.1766G= (p.Arg589=) | |
| 17 | g.41758457C>G | CA399492989 | JUP | c.1715G>C (p.Arg572Pro) n.313G>C c.1766G>C (p.Arg589Pro) | |
| 17 | g.41758457C>T | CA8565145 | JUP | c.1715G>A (p.Arg572Gln) n.313G>A c.1766G>A (p.Arg589Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758458G>A | CA8565146 | JUP | c.1714C>T (p.Arg572Trp) n.312C>T c.1765C>T (p.Arg589Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758458G>C | CA399492993 | JUP | c.1714C>G (p.Arg572Gly) n.312C>G c.1765C>G (p.Arg589Gly) | COSMIC |
| 17 | g.41758458G= | CA2260170808 | JUP | c.1714C= (p.Arg572=) n.312C= c.1765C= (p.Arg589=) | |
| 17 | g.41758458G>T | CA500022942 | JUP | c.1714C>A (p.Arg572=) n.312C>A c.1765C>A (p.Arg589=) | |
| 17 | g.41758459G>A | CA290696022 | JUP | c.1713C>T (p.Ala571=) n.311C>T c.1764C>T (p.Ala588=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41758459G>C | CA8565147 | JUP | c.1713C>G (p.Ala571=) n.311C>G c.1764C>G (p.Ala588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758459G= | CA2260170809 | JUP | c.1713C= (p.Ala571=) n.311C= c.1764C= (p.Ala588=) | |
| 17 | g.41758459G>T | CA500022944 | JUP | c.1713C>A (p.Ala571=) n.311C>A c.1764C>A (p.Ala588=) | ClinVar |
| 17 | g.41758460G>A | CA399492996 | JUP | c.1712C>T (p.Ala571Val) n.310C>T c.1763C>T (p.Ala588Val) | |
| 17 | g.41758460G>C | CA399492998 | JUP | c.1712C>G (p.Ala571Gly) n.310C>G c.1763C>G (p.Ala588Gly) | |
| 17 | g.41758460G>T | CA399493000 | JUP | c.1712C>A (p.Ala571Asp) n.310C>A c.1763C>A (p.Ala588Asp) | |
| 17 | g.41758461C>A | CA137151 | JUP | c.1711G>T (p.Ala571Ser) n.309G>T c.1762G>T (p.Ala588Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758461C= | CA2260170810 | JUP | c.1711G= (p.Ala571=) n.309G= c.1762G= (p.Ala588=) | |
| 17 | g.41758461C>G | CA399493003 | JUP | c.1711G>C (p.Ala571Pro) n.309G>C c.1762G>C (p.Ala588Pro) | |
| 17 | g.41758461C>T | CA399493004 | JUP | c.1711G>A (p.Ala571Thr) n.309G>A c.1762G>A (p.Ala588Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.41758462G>A | CA8565148 | JUP | c.1710C>T (p.Leu570=) n.308C>T c.1761C>T (p.Leu587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758462G>C | CA500022946 | JUP | c.1710C>G (p.Leu570=) n.308C>G c.1761C>G (p.Leu587=) | |
| 17 | g.41758462G= | CA2260170811 | JUP | c.1710C= (p.Leu570=) n.308C= c.1761C= (p.Leu587=) | |
| 17 | g.41758462G>T | CA500022945 | JUP | c.1710C>A (p.Leu570=) n.308C>A c.1761C>A (p.Leu587=) | |
| 17 | g.41758463A>C | CA399493008 | JUP | c.1709T>G (p.Leu570Arg) n.307T>G c.1760T>G (p.Leu587Arg) | |
| 17 | g.41758463A>G | CA399493009 | JUP | c.1709T>C (p.Leu570Pro) n.307T>C c.1760T>C (p.Leu587Pro) | |
| 17 | g.41758463A>T | CA399493012 | JUP | c.1709T>A (p.Leu570His) n.307T>A c.1760T>A (p.Leu587His) | |
| 17 | g.41758464G>A | CA399493015 | JUP | c.1708C>T (p.Leu570Phe) n.306C>T c.1759C>T (p.Leu587Phe) | |
| 17 | g.41758464G>C | CA399493017 | JUP | c.1708C>G (p.Leu570Val) n.306C>G c.1759C>G (p.Leu587Val) | |
| 17 | g.41758464G>T | CA399493014 | JUP | c.1708C>A (p.Leu570Ile) n.306C>A c.1759C>A (p.Leu587Ile) | |
| 17 | g.41758465G>A | CA500022951 | JUP | c.1707C>T (p.Ile569=) n.305C>T c.1758C>T (p.Ile586=) | |
| 17 | g.41758465G>C | CA399493019 | JUP | c.1707C>G (p.Ile569Met) n.305C>G c.1758C>G (p.Ile586Met) | |
| 17 | g.41758465G>T | CA500022950 | JUP | c.1707C>A (p.Ile569=) n.305C>A c.1758C>A (p.Ile586=) | |
| 17 | g.41758466A>C | CA399493022 | JUP | c.1706T>G (p.Ile569Ser) n.304T>G c.1757T>G (p.Ile586Ser) | |
| 17 | g.41758466A>G | CA399493024 | JUP | c.1706T>C (p.Ile569Thr) n.304T>C c.1757T>C (p.Ile586Thr) | |
| 17 | g.41758466A>T | CA399493025 | JUP | c.1706T>A (p.Ile569Asn) n.304T>A c.1757T>A (p.Ile586Asn) | gnomAD v4 |
| 17 | g.41758467T>A | CA308546 | JUP | c.1705A>T (p.Ile569Phe) n.303A>T c.1756A>T (p.Ile586Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41758467T>C | CA399493028 | JUP | c.1705A>G (p.Ile569Val) n.303A>G c.1756A>G (p.Ile586Val) | |
| 17 | g.41758467T>G | CA399493029 | JUP | c.1705A>C (p.Ile569Leu) n.303A>C c.1756A>C (p.Ile586Leu) | ClinVar dbSNP |
| 17 | g.41758467T= | CA2260170812 | JUP | c.1705A= (p.Ile569=) n.303A= c.1756A= (p.Ile586=) | |
| 17 | g.41758468G>A | CA500022953 | JUP | c.1704C>T (p.His568=) n.302C>T c.1755C>T (p.His585=) | |
| 17 | g.41758468G>C | CA399493032 | JUP | c.1704C>G (p.His568Gln) n.302C>G c.1755C>G (p.His585Gln) | |
| 17 | g.41758468G>T | CA399493034 | JUP | c.1704C>A (p.His568Gln) n.302C>A c.1755C>A (p.His585Gln) | |
| 17 | g.41758469T>A | CA399493036 | JUP | c.1703A>T (p.His568Leu) n.301A>T c.1754A>T (p.His585Leu) | |
| 17 | g.41758469T>C | CA399493038 | JUP | c.1703A>G (p.His568Arg) n.301A>G c.1754A>G (p.His585Arg) | gnomAD v4 |
| 17 | g.41758469T>G | CA399493040 | JUP | c.1703A>C (p.His568Pro) n.301A>C c.1754A>C (p.His585Pro) | |
| 17 | g.41758470G>A | CA308541 | JUP | c.1702C>T (p.His568Tyr) n.300C>T c.1753C>T (p.His585Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758470G>C | CA399493043 | JUP | c.1702C>G (p.His568Asp) n.300C>G c.1753C>G (p.His585Asp) | |
| 17 | g.41758470G= | CA2260170813 | JUP | c.1702C= (p.His568=) n.300C= c.1753C= (p.His585=) | |
| 17 | g.41758470G>T | CA399493045 | JUP | c.1702C>A (p.His568Asn) n.300C>A c.1753C>A (p.His585Asn) | |
| 17 | g.41758471C>A | CA500022955 | JUP | c.1701G>T (p.Leu567=) n.299G>T c.1752G>T (p.Leu584=) | |
| 17 | g.41758471C>G | CA500022956 | JUP | c.1701G>C (p.Leu567=) n.299G>C c.1752G>C (p.Leu584=) | |
| 17 | g.41758471C>T | CA500022957 | JUP | c.1701G>A (p.Leu567=) n.299G>A c.1752G>A (p.Leu584=) | |
| 17 | g.41758472A>C | CA399493048 | JUP | c.1700T>G (p.Leu567Arg) n.298T>G c.1751T>G (p.Leu584Arg) | |
| 17 | g.41758472A>G | CA399493050 | JUP | c.1700T>C (p.Leu567Pro) n.298T>C c.1751T>C (p.Leu584Pro) | |
| 17 | g.41758472A>T | CA399493053 | JUP | c.1700T>A (p.Leu567Gln) n.298T>A c.1751T>A (p.Leu584Gln) | |
| 17 | g.41758473G>A | CA500022960 | JUP | c.1699C>T (p.Leu567=) n.297C>T c.1750C>T (p.Leu584=) | gnomAD v4 |
| 17 | g.41758473G>C | CA399493056 | JUP | c.1699C>G (p.Leu567Val) n.297C>G c.1750C>G (p.Leu584Val) | |
| 17 | g.41758473G>T | CA399493059 | JUP | c.1699C>A (p.Leu567Met) n.297C>A c.1750C>A (p.Leu584Met) | |
| 17 | g.41758474T>A | CA500022962 | JUP | c.1698A>T (p.Ala566=) n.296A>T c.1749A>T (p.Ala583=) | |
| 17 | g.41758474T>C | CA500022963 | JUP | c.1698A>G (p.Ala566=) n.296A>G c.1749A>G (p.Ala583=) | dbSNP gnomAD v4 |
| 17 | g.41758474T>G | CA500022964 | JUP | c.1698A>C (p.Ala566=) n.296A>C c.1749A>C (p.Ala583=) | |
| 17 | g.41758474T= | CA2260170814 | JUP | c.1698A= (p.Ala566=) n.296A= c.1749A= (p.Ala583=) | |
| 17 | g.41758475G>A | CA399493061 | JUP | c.1697C>T (p.Ala566Val) n.295C>T c.1748C>T (p.Ala583Val) | |
| 17 | g.41758475G>C | CA399493063 | JUP | c.1697C>G (p.Ala566Gly) n.295C>G c.1748C>G (p.Ala583Gly) | ClinVar gnomAD v4 |
| 17 | g.41758475G>T | CA399493066 | JUP | c.1697C>A (p.Ala566Glu) n.295C>A c.1748C>A (p.Ala583Glu) | |
| 17 | g.41758476C>A | CA399493068 | JUP | c.1696G>T (p.Ala566Ser) n.294G>T c.1747G>T (p.Ala583Ser) | |
| 17 | g.41758476C= | CA2260170815 | JUP | c.1696G= (p.Ala566=) n.294G= c.1747G= (p.Ala583=) | |
| 17 | g.41758476C>G | CA399493070 | JUP | c.1696G>C (p.Ala566Pro) n.294G>C c.1747G>C (p.Ala583Pro) | |
| 17 | g.41758476C>T | CA183904 | JUP | c.1696G>A (p.Ala566Thr) n.294G>A c.1747G>A (p.Ala583Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758477T>A | CA500022967 | JUP | c.1695A>T (p.Gly565=) n.293A>T c.1746A>T (p.Gly582=) | |
| 17 | g.41758477T>C | CA500022965 | JUP | c.1695A>G (p.Gly565=) n.293A>G c.1746A>G (p.Gly582=) | ClinVar |
| 17 | g.41758477T>G | CA500022966 | JUP | c.1695A>C (p.Gly565=) n.293A>C c.1746A>C (p.Gly582=) | |
| 17 | g.41758478C>A | CA399493078 | JUP | c.1694G>T (p.Gly565Val) n.292G>T c.1745G>T (p.Gly582Val) | |
| 17 | g.41758478C>G | CA399493081 | JUP | c.1694G>C (p.Gly565Ala) n.292G>C c.1745G>C (p.Gly582Ala) | ClinVar |
| 17 | g.41758478C>T | CA399493076 | JUP | c.1694G>A (p.Gly565Glu) n.292G>A c.1745G>A (p.Gly582Glu) | |
| 17 | g.41758479C>A | CA399493084 | JUP | c.1693G>T (p.Gly565Ter) n.291G>T c.1744G>T (p.Gly582Ter) | |
| 17 | g.41758479C= | CA2260170816 | JUP | c.1693G= (p.Gly565=) n.291G= c.1744G= (p.Gly582=) | |
| 17 | g.41758479C>G | CA399493087 | JUP | c.1693G>C (p.Gly565Arg) n.291G>C c.1744G>C (p.Gly582Arg) | |
| 17 | g.41758479C>T | CA290696076 | JUP | c.1693G>A (p.Gly565Arg) n.291G>A c.1744G>A (p.Gly582Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41758480G>A | CA8565149 | JUP | c.1692C>T (p.Thr564=) n.290C>T c.1743C>T (p.Thr581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758480G>C | CA500022970 | JUP | c.1692C>G (p.Thr564=) n.290C>G c.1743C>G (p.Thr581=) | ClinVar |
| 17 | g.41758480G= | CA2260170817 | JUP | c.1692C= (p.Thr564=) n.290C= c.1743C= (p.Thr581=) | |
| 17 | g.41758480G>T | CA8565150 | JUP | c.1692C>A (p.Thr564=) n.290C>A c.1743C>A (p.Thr581=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41758481G>A | CA399493108 | JUP | c.1691C>T (p.Thr564Ile) n.289C>T c.1742C>T (p.Thr581Ile) | |
| 17 | g.41758481G>C | CA399493111 | JUP | c.1691C>G (p.Thr564Ser) n.289C>G c.1742C>G (p.Thr581Ser) | dbSNP |
| 17 | g.41758481G= | CA2260170818 | JUP | c.1691C= (p.Thr564=) n.289C= c.1742C= (p.Thr581=) | |
| 17 | g.41758481G>T | CA399493114 | JUP | c.1691C>A (p.Thr564Asn) n.289C>A c.1742C>A (p.Thr581Asn) | |
| 17 | g.41758482T>A | CA399493116 | JUP | c.1690A>T (p.Thr564Ser) n.288A>T c.1741A>T (p.Thr581Ser) | |
| 17 | g.41758482T>C | CA399493119 | JUP | c.1690A>G (p.Thr564Ala) n.288A>G c.1741A>G (p.Thr581Ala) | gnomAD v4 |
| 17 | g.41758482T>G | CA399493121 | JUP | c.1690A>C (p.Thr564Pro) n.288A>C c.1741A>C (p.Thr581Pro) | |
| 17 | g.41758483G>A | CA500022973 | JUP | c.1689C>T (p.Cys563=) n.287C>T c.1740C>T (p.Cys580=) | gnomAD v4 |
| 17 | g.41758483G>C | CA399493124 | JUP | c.1689C>G (p.Cys563Trp) n.287C>G c.1740C>G (p.Cys580Trp) | |
| 17 | g.41758483G= | CA2260170819 | JUP | c.1689C= (p.Cys563=) n.287C= c.1740C= (p.Cys580=) | |
| 17 | g.41758483G>T | CA399493127 | JUP | c.1689C>A (p.Cys563Ter) n.287C>A c.1740C>A (p.Cys580Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758484C>A | CA399493133 | JUP | c.1688G>T (p.Cys563Phe) n.286G>T c.1739G>T (p.Cys580Phe) | |
| 17 | g.41758484C= | CA2260170820 | JUP | c.1688G= (p.Cys563=) n.286G= c.1739G= (p.Cys580=) | |
| 17 | g.41758484C>G | CA399493130 | JUP | c.1688G>C (p.Cys563Ser) n.286G>C c.1739G>C (p.Cys580Ser) | |
| 17 | g.41758484C>T | CA8565151 | JUP | c.1688G>A (p.Cys563Tyr) n.286G>A c.1739G>A (p.Cys580Tyr) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.41758485A>C | CA399493136 | JUP | c.1687T>G (p.Cys563Gly) n.285T>G c.1738T>G (p.Cys580Gly) | |
| 17 | g.41758485A>G | CA399493138 | JUP | c.1687T>C (p.Cys563Arg) n.285T>C c.1738T>C (p.Cys580Arg) | |
| 17 | g.41758485A>T | CA399493140 | JUP | c.1687T>A (p.Cys563Ser) n.285T>A c.1738T>A (p.Cys580Ser) | |
| 17 | g.41758486G>A | CA500022974 | JUP | c.1686C>T (p.Gly562=) n.284C>T c.1737C>T (p.Gly579=) | |
| 17 | g.41758486G>C | CA500022976 | JUP | c.1686C>G (p.Gly562=) n.284C>G c.1737C>G (p.Gly579=) | |
| 17 | g.41758486G>T | CA500022975 | JUP | c.1686C>A (p.Gly562=) n.284C>A c.1737C>A (p.Gly579=) | |
| 17 | g.41758487C>A | CA399493144 | JUP | c.1685G>T (p.Gly562Val) n.283G>T c.1736G>T (p.Gly579Val) | |
| 17 | g.41758487C>G | CA399493147 | JUP | c.1685G>C (p.Gly562Ala) n.283G>C c.1736G>C (p.Gly579Ala) | |
| 17 | g.41758487C>T | CA399493150 | JUP | c.1685G>A (p.Gly562Asp) n.283G>A c.1736G>A (p.Gly579Asp) | ClinVar |
| 17 | g.41758488C>A | CA399493153 | JUP | c.1684G>T (p.Gly562Cys) n.282G>T c.1735G>T (p.Gly579Cys) | gnomAD v4 |
| 17 | g.41758488C= | CA2260170821 | JUP | c.1684G= (p.Gly562=) n.282G= c.1735G= (p.Gly579=) | |
| 17 | g.41758488C>G | CA399493156 | JUP | c.1684G>C (p.Gly562Arg) n.282G>C c.1735G>C (p.Gly579Arg) | |
| 17 | g.41758488C>T | CA399493159 | JUP | c.1684G>A (p.Gly562Ser) n.282G>A c.1735G>A (p.Gly579Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758489C>A | CA399493162 | JUP | c.1683G>T (p.Glu561Asp) n.281G>T c.1734G>T (p.Glu578Asp) | |
| 17 | g.41758489C>G | CA399493163 | JUP | c.1683G>C (p.Glu561Asp) n.281G>C c.1734G>C (p.Glu578Asp) | |
| 17 | g.41758489C>T | CA500022980 | JUP | c.1683G>A (p.Glu561=) n.281G>A c.1734G>A (p.Glu578=) | |
| 17 | g.41758490T>A | CA399493166 | JUP | c.1682A>T (p.Glu561Val) n.280A>T c.1733A>T (p.Glu578Val) | |
| 17 | g.41758490T>C | CA399493168 | JUP | c.1682A>G (p.Glu561Gly) n.280A>G c.1733A>G (p.Glu578Gly) | |
| 17 | g.41758490T>G | CA399493171 | JUP | c.1682A>C (p.Glu561Ala) n.280A>C c.1733A>C (p.Glu578Ala) | |
| 17 | g.41758491C>A | CA399493178 | JUP | c.1681G>T (p.Glu561Ter) n.279G>T c.1732G>T (p.Glu578Ter) | COSMIC |
| 17 | g.41758491C>G | CA399493175 | JUP | c.1681G>C (p.Glu561Gln) n.279G>C c.1732G>C (p.Glu578Gln) | |
| 17 | g.41758491C>T | CA399493173 | JUP | c.1681G>A (p.Glu561Lys) n.279G>A c.1732G>A (p.Glu578Lys) | |
| 17 | g.41758492C>A | CA500022981 | JUP | c.1680G>T (p.Val560=) n.278G>T c.1731G>T (p.Val577=) | |
| 17 | g.41758492C>G | CA500022982 | JUP | c.1680G>C (p.Val560=) n.278G>C c.1731G>C (p.Val577=) | gnomAD v4 |
| 17 | g.41758492C>T | CA500022983 | JUP | c.1680G>A (p.Val560=) n.278G>A c.1731G>A (p.Val577=) | |
| 17 | g.41758493A>C | CA399493181 | JUP | c.1679T>G (p.Val560Gly) n.277T>G c.1730T>G (p.Val577Gly) | |
| 17 | g.41758493A>G | CA399493184 | JUP | c.1679T>C (p.Val560Ala) n.277T>C c.1730T>C (p.Val577Ala) | |
| 17 | g.41758493A>T | CA399493188 | JUP | c.1679T>A (p.Val560Glu) n.277T>A c.1730T>A (p.Val577Glu) | |
| 17 | g.41758494C>A | CA399493190 | JUP | c.1678G>T (p.Val560Leu) n.276G>T c.1729G>T (p.Val577Leu) | |
| 17 | g.41758494C>G | CA399493192 | JUP | c.1678G>C (p.Val560Leu) n.276G>C c.1729G>C (p.Val577Leu) | |
| 17 | g.41758494C>T | CA399493194 | JUP | c.1678G>A (p.Val560Met) n.276G>A c.1729G>A (p.Val577Met) | ClinVar gnomAD v4 |
| 17 | g.41758495A= | CA2260170822 | JUP | c.1677T= (p.Ile559=) n.275T= c.1728T= (p.Ile576=) | |
| 17 | g.41758495A>C | CA399493196 | JUP | c.1677T>G (p.Ile559Met) n.275T>G c.1728T>G (p.Ile576Met) | |
| 17 | g.41758495A>G | CA500022984 | JUP | c.1677T>C (p.Ile559=) n.275T>C c.1728T>C (p.Ile576=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758495A>T | CA500022985 | JUP | c.1677T>A (p.Ile559=) n.275T>A c.1728T>A (p.Ile576=) | |
| 17 | g.41758496A>C | CA399493205 | JUP | c.1676T>G (p.Ile559Ser) n.274T>G c.1727T>G (p.Ile576Ser) | |
| 17 | g.41758496A>G | CA399493201 | JUP | c.1676T>C (p.Ile559Thr) n.274T>C c.1727T>C (p.Ile576Thr) | gnomAD v4 |
| 17 | g.41758496A>T | CA399493204 | JUP | c.1676T>A (p.Ile559Asn) n.274T>A c.1727T>A (p.Ile576Asn) | |
| 17 | g.41758497T>A | CA399493208 | JUP | c.1675A>T (p.Ile559Phe) n.273A>T c.1726A>T (p.Ile576Phe) | |
| 17 | g.41758497T>C | CA399493209 | JUP | c.1675A>G (p.Ile559Val) n.273A>G c.1726A>G (p.Ile576Val) | |
| 17 | g.41758497T>G | CA399493211 | JUP | c.1675A>C (p.Ile559Leu) n.273A>C c.1726A>C (p.Ile576Leu) | |
| 17 | g.41758498C>A | CA399493214 | JUP | c.1674G>T (p.Glu558Asp) n.272G>T c.1725G>T (p.Glu575Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758498C= | CA2260170823 | JUP | c.1674G= (p.Glu558=) n.272G= c.1725G= (p.Glu575=) | |
| 17 | g.41758498C>G | CA399493217 | JUP | c.1674G>C (p.Glu558Asp) n.272G>C c.1725G>C (p.Glu575Asp) | |
| 17 | g.41758498C>T | CA500022986 | JUP | c.1674G>A (p.Glu558=) n.272G>A c.1725G>A (p.Glu575=) | |
| 17 | g.41758499T>A | CA399493219 | JUP | c.1673A>T (p.Glu558Val) n.271A>T c.1724A>T (p.Glu575Val) | |
| 17 | g.41758499T>C | CA399493222 | JUP | c.1673A>G (p.Glu558Gly) n.271A>G c.1724A>G (p.Glu575Gly) | |
| 17 | g.41758499T>G | CA399493221 | JUP | c.1673A>C (p.Glu558Ala) n.271A>C c.1724A>C (p.Glu575Ala) | gnomAD v4 |
| 17 | g.41758500C>A | CA399493225 | JUP | c.1672G>T (p.Glu558Ter) n.270G>T c.1723G>T (p.Glu575Ter) | |
| 17 | g.41758500C>G | CA399493228 | JUP | c.1672G>C (p.Glu558Gln) n.270G>C c.1723G>C (p.Glu575Gln) | |
| 17 | g.41758500C>T | CA399493231 | JUP | c.1672G>A (p.Glu558Lys) n.270G>A c.1723G>A (p.Glu575Lys) | gnomAD v4 |
| 17 | g.41758501C>A | CA399493234 | JUP | c.1671G>T (p.Glu557Asp) n.269G>T c.1722G>T (p.Glu574Asp) | |
| 17 | g.41758501C= | CA2260170824 | JUP | c.1671G= (p.Glu557=) n.269G= c.1722G= (p.Glu574=) | |
| 17 | g.41758501C>G | CA399493237 | JUP | c.1671G>C (p.Glu557Asp) n.269G>C c.1722G>C (p.Glu574Asp) | |
| 17 | g.41758501C>T | CA500022988 | JUP | c.1671G>A (p.Glu557=) n.269G>A c.1722G>A (p.Glu574=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758502T>A | CA399493240 | JUP | c.1670A>T (p.Glu557Val) n.268A>T c.1721A>T (p.Glu574Val) | |
| 17 | g.41758502T>C | CA399493242 | JUP | c.1670A>G (p.Glu557Gly) n.268A>G c.1721A>G (p.Glu574Gly) | |
| 17 | g.41758502T>G | CA399493244 | JUP | c.1670A>C (p.Glu557Ala) n.268A>C c.1721A>C (p.Glu574Ala) | |
| 17 | g.41758503C>A | CA399493247 | JUP | c.1669G>T (p.Glu557Ter) n.267G>T c.1720G>T (p.Glu574Ter) | COSMIC |
| 17 | g.41758503C>G | CA399493252 | JUP | c.1669G>C (p.Glu557Gln) n.267G>C c.1720G>C (p.Glu574Gln) | |
| 17 | g.41758503C>T | CA399493253 | JUP | c.1669G>A (p.Glu557Lys) n.267G>A c.1720G>A (p.Glu574Lys) | |
| 17 | g.41758504C>A | CA399493256 | JUP | c.1668G>T (p.Met556Ile) n.266G>T c.1719G>T (p.Met573Ile) | |
| 17 | g.41758504C>G | CA399493260 | JUP | c.1668G>C (p.Met556Ile) n.266G>C c.1719G>C (p.Met573Ile) | |
| 17 | g.41758504C>T | CA399493259 | JUP | c.1668G>A (p.Met556Ile) n.266G>A c.1719G>A (p.Met573Ile) | |
| 17 | g.41758505A= | CA2260170825 | JUP | c.1667T= (p.Met556=) n.265T= c.1718T= (p.Met573=) | |
| 17 | g.41758505A>C | CA399493261 | JUP | c.1667T>G (p.Met556Arg) n.265T>G c.1718T>G (p.Met573Arg) | gnomAD v4 |
| 17 | g.41758505A>G | CA8565152 | JUP | c.1667T>C (p.Met556Thr) n.265T>C c.1718T>C (p.Met573Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758505A>T | CA399493269 | JUP | c.1667T>A (p.Met556Lys) n.265T>A c.1718T>A (p.Met573Lys) | |
| 17 | g.41758506T>A | CA399493275 | JUP | c.1666A>T (p.Met556Leu) n.264A>T c.1717A>T (p.Met573Leu) | gnomAD v4 |
| 17 | g.41758506T>C | CA399493276 | JUP | c.1666A>G (p.Met556Val) n.264A>G c.1717A>G (p.Met573Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758506T>G | CA399493279 | JUP | c.1666A>C (p.Met556Leu) n.264A>C c.1717A>C (p.Met573Leu) | |
| 17 | g.41758506T= | CA2260170826 | JUP | c.1666A= (p.Met556=) n.264A= c.1717A= (p.Met573=) | |
| 17 | g.41758507C>A | CA399493285 | JUP | c.1665G>T (p.Arg555Ser) n.263G>T c.1716G>T (p.Arg572Ser) | |
| 17 | g.41758507C>G | CA399493288 | JUP | c.1665G>C (p.Arg555Ser) n.263G>C c.1716G>C (p.Arg572Ser) | |
| 17 | g.41758507C>T | CA500022992 | JUP | c.1665G>A (p.Arg555=) n.263G>A c.1716G>A (p.Arg572=) | |
| 17 | g.41758508C>A | CA399493292 | JUP | c.1664G>T (p.Arg555Met) n.262G>T c.1715G>T (p.Arg572Met) | |
| 17 | g.41758508C>G | CA399493295 | JUP | c.1664G>C (p.Arg555Thr) n.262G>C c.1715G>C (p.Arg572Thr) | |
| 17 | g.41758508C>T | CA399493297 | JUP | c.1664G>A (p.Arg555Lys) n.262G>A c.1715G>A (p.Arg572Lys) | gnomAD v4 |
| 17 | g.41758509T>A | CA399493299 | JUP | c.1663A>T (p.Arg555Trp) n.261A>T c.1714A>T (p.Arg572Trp) | |
| 17 | g.41758509T>C | CA399493301 | JUP | c.1663A>G (p.Arg555Gly) n.261A>G c.1714A>G (p.Arg572Gly) | |
| 17 | g.41758509T>G | CA500022995 | JUP | c.1663A>C (p.Arg555=) n.261A>C c.1714A>C (p.Arg572=) | |
| 17 | g.41758510C>A | CA500022996 | JUP | c.1662G>T (p.Val554=) n.260G>T c.1713G>T (p.Val571=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758510C= | CA2260170827 | JUP | c.1662G= (p.Val554=) n.260G= c.1713G= (p.Val571=) | |
| 17 | g.41758510C>G | CA500022998 | JUP | c.1662G>C (p.Val554=) n.260G>C c.1713G>C (p.Val571=) | |
| 17 | g.41758510C>T | CA500022997 | JUP | c.1662G>A (p.Val554=) n.260G>A c.1713G>A (p.Val571=) | gnomAD v4 |
| 17 | g.41758511A>C | CA399493308 | JUP | c.1661T>G (p.Val554Gly) n.259T>G c.1712T>G (p.Val571Gly) | |
| 17 | g.41758511A>G | CA399493306 | JUP | c.1661T>C (p.Val554Ala) n.259T>C c.1712T>C (p.Val571Ala) | gnomAD v4 |
| 17 | g.41758511A>T | CA399493304 | JUP | c.1661T>A (p.Val554Glu) n.259T>A c.1712T>A (p.Val571Glu) | |
| 17 | g.41758512C>A | CA399493310 | JUP | c.1660G>T (p.Val554Leu) n.258G>T c.1711G>T (p.Val571Leu) | |
| 17 | g.41758512C>G | CA399493313 | JUP | c.1660G>C (p.Val554Leu) n.258G>C c.1711G>C (p.Val571Leu) | |
| 17 | g.41758512C>T | CA399493315 | JUP | c.1660G>A (p.Val554Met) n.258G>A c.1711G>A (p.Val571Met) | |
| 17 | g.41758513A= | CA2260170828 | JUP | c.1659T= (p.Gly553=) n.257T= c.1710T= (p.Gly570=) | |
| 17 | g.41758513A>C | CA500023002 | JUP | c.1659T>G (p.Gly553=) n.257T>G c.1710T>G (p.Gly570=) | |
| 17 | g.41758513A>G | CA8565153 | JUP | c.1659T>C (p.Gly553=) n.257T>C c.1710T>C (p.Gly570=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41758513A>T | CA500023001 | JUP | c.1659T>A (p.Gly553=) n.257T>A c.1710T>A (p.Gly570=) | |
| 17 | g.41758514C>A | CA399493319 | JUP | c.1658G>T (p.Gly553Val) n.256G>T c.1709G>T (p.Gly570Val) | ClinVar |
| 17 | g.41758514C= | CA2260170829 | JUP | c.1658G= (p.Gly553=) n.256G= c.1709G= (p.Gly570=) | |
| 17 | g.41758514C>G | CA399493322 | JUP | c.1658G>C (p.Gly553Ala) n.256G>C c.1709G>C (p.Gly570Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41758514C>T | CA8565154 | JUP | c.1658G>A (p.Gly553Asp) n.256G>A c.1709G>A (p.Gly570Asp) | dbSNP ExAC gnomAD v2 |
| 17 | g.41758515C>A | CA399493326 | JUP | c.1657G>T (p.Gly553Cys) n.255G>T c.1708G>T (p.Gly570Cys) | |
| 17 | g.41758515C>G | CA399493328 | JUP | c.1657G>C (p.Gly553Arg) n.255G>C c.1708G>C (p.Gly570Arg) | |
| 17 | g.41758515C>T | CA399493331 | JUP | c.1657G>A (p.Gly553Ser) n.255G>A c.1708G>A (p.Gly570Ser) | |
| 17 | g.41758516A>C | CA399493333 | JUP | c.1656T>G (p.Asp552Glu) n.254T>G c.1707T>G (p.Asp569Glu) | |
| 17 | g.41758516A>G | CA500023004 | JUP | c.1656T>C (p.Asp552=) n.254T>C c.1707T>C (p.Asp569=) | |
| 17 | g.41758516A>T | CA399493339 | JUP | c.1656T>A (p.Asp552Glu) n.254T>A c.1707T>A (p.Asp569Glu) | |
| 17 | g.41758517T>A | CA399493342 | JUP | c.1655A>T (p.Asp552Val) n.253A>T c.1706A>T (p.Asp569Val) | |
| 17 | g.41758517T>C | CA399493345 | JUP | c.1655A>G (p.Asp552Gly) n.253A>G c.1706A>G (p.Asp569Gly) | |
| 17 | g.41758517T>G | CA399493340 | JUP | c.1655A>C (p.Asp552Ala) n.253A>C c.1706A>C (p.Asp569Ala) | |
| 17 | g.41758518C>A | CA399493349 | JUP | c.1654G>T (p.Asp552Tyr) n.252G>T c.1705G>T (p.Asp569Tyr) | |
| 17 | g.41758518C>G | CA399493352 | JUP | c.1654G>C (p.Asp552His) n.252G>C c.1705G>C (p.Asp569His) | |
| 17 | g.41758518C>T | CA399493355 | JUP | c.1654G>A (p.Asp552Asn) n.252G>A c.1705G>A (p.Asp569Asn) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41758519C>A | CA399493359 | JUP | c.1654-1G>T (n.1654-1G>T) n.252-1G>T c.1705-1G>T (n.1705-1G>T) | |
| 17 | g.41758519C>G | CA399493361 | JUP | c.1654-1G>C (n.1654-1G>C) n.252-1G>C c.1705-1G>C (n.1705-1G>C) | |
| 17 | g.41758519C>T | CA399493363 | JUP | c.1654-1G>A (n.1654-1G>A) n.252-1G>A c.1705-1G>A (n.1705-1G>A) | |
| 17 | g.41758519_41758520delinsCT | CA2260170830 | JUP | c.1654-2_1654-1delinsAG (n.1654-2_1654-1delinsAG) n.252-2_252-1delinsAG c.1705-2_1705-1delinsAG (n.1705-2_1705-1delinsAG) | |
| 17 | g.41758520del | CA772062292 | JUP | c.1654-2del (n.1654-2del) n.252-2del c.1705-2del (n.1705-2del) | dbSNP |
| 17 | g.41758520T>A | CA399493367 | JUP | c.1654-2A>T (n.1654-2A>T) n.252-2A>T c.1705-2A>T (n.1705-2A>T) | |
| 17 | g.41758520T>C | CA399493373 | JUP | c.1654-2A>G (n.1654-2A>G) n.252-2A>G c.1705-2A>G (n.1705-2A>G) | ClinVar |
| 17 | g.41758520T>G | CA399493376 | JUP | c.1654-2A>C (n.1654-2A>C) n.252-2A>C c.1705-2A>C (n.1705-2A>C) | |
| 17 | g.41758521G>A | CA626026012 | JUP | c.1654-3C>T (n.1654-3C>T) n.252-3C>T c.1705-3C>T (n.1705-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758521G= | CA2260170831 | JUP | c.1654-3C= (n.1654-3C=) n.252-3C= c.1705-3C= (n.1705-3C=) | |
| 17 | g.41758524_41758530del | CA2576268819 | JUP | c.1654-11_1654-5del (n.1654-11_1654-5del) n.252-11_252-5del c.1705-11_1705-5del (n.1705-11_1705-5del) | gnomAD v4 |
| 17 | g.41758525G>A | CA626026013 | JUP | c.1654-7C>T (n.1654-7C>T) n.252-7C>T c.1705-7C>T (n.1705-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41758525G= | CA2260170832 | JUP | c.1654-7C= (n.1654-7C=) n.252-7C= c.1705-7C= (n.1705-7C=) | |
| 17 | g.41758525G>T | CA772062301 | JUP | c.1654-7C>A (n.1654-7C>A) n.252-7C>A c.1705-7C>A (n.1705-7C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41758526A= | CA2260170833 | JUP | c.1654-8T= (n.1654-8T=) n.252-8T= c.1705-8T= (n.1705-8T=) | |
| 17 | g.41758526A>T | CA290696115 | JUP | c.1654-8T>A (n.1654-8T>A) n.252-8T>A c.1705-8T>A (n.1705-8T>A) | dbSNP |
| 17 | g.41758527G>C | CA290696120 | JUP | c.1654-9C>G (n.1654-9C>G) n.252-9C>G c.1705-9C>G (n.1705-9C>G) | dbSNP |
| 17 | g.41758527G= | CA2260170834 | JUP | c.1654-9C= (n.1654-9C=) n.252-9C= c.1705-9C= (n.1705-9C=) |