Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12655740_12655750delinsGGCTGTGGTGC | CA2323502819 | MAN2B1 | c.1774_1784delinsGCACCACAGCC (p.Ala592=) c.1771_1781delinsGCACCACAGCC (p.Ala591=) n.380_390delinsGCACCACAGCC n.2364_2374delinsGCACCACAGCC c.367_377delinsGCACCACAGCC n.371_381delinsGCACCACAGCC c.138_148delinsGCACCACAGCC c.1777_1787delinsGCACCACAGCC (p.Ala593=) c.673_683delinsGCACCACAGCC (p.Ala225=) | |
19 | g.12655743_12655752del | CA16041948 | MAN2B1 | c.1774_1783del (p.Ala592ProfsTer11) c.1771_1780del (p.Ala591ProfsTer11) n.380_389del n.2364_2373del c.367_376del n.371_380del c.138_147del c.1777_1786del (p.Ala593ProfsTer11) c.673_682del (p.Ala225ProfsTer11) | ClinVar dbSNP |
19 | g.12655745T>A | CA505624696 | MAN2B1 | c.1779A>T (p.Pro593=) c.1776A>T (p.Pro592=) n.385A>T n.2369A>T c.372A>T n.376A>T c.143A>T c.1782A>T (p.Pro594=) c.678A>T (p.Pro226=) | COSMIC |
19 | g.12655745T>C | CA9226328 | MAN2B1 | c.1779A>G (p.Pro593=) c.1776A>G (p.Pro592=) n.385A>G n.2369A>G c.372A>G n.376A>G c.143A>G c.1782A>G (p.Pro594=) c.678A>G (p.Pro226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655745T>G | CA505624697 | MAN2B1 | c.1779A>C (p.Pro593=) c.1776A>C (p.Pro592=) n.385A>C n.2369A>C c.372A>C n.376A>C c.143A>C c.1782A>C (p.Pro594=) c.678A>C (p.Pro226=) | |
19 | g.12655745T= | CA2323502823 | MAN2B1 | c.1779A= (p.Pro593=) c.1776A= (p.Pro592=) n.385A= n.2369A= c.372A= n.376A= c.143A= c.1782A= (p.Pro594=) c.678A= (p.Pro226=) | |
19 | g.12655746G>A | CA404244785 | MAN2B1 | c.1778C>T (p.Pro593Leu) c.1775C>T (p.Pro592Leu) n.384C>T n.2368C>T c.371C>T n.375C>T c.142C>T c.1781C>T (p.Pro594Leu) c.677C>T (p.Pro226Leu) | |
19 | g.12655746G>C | CA404244786 | MAN2B1 | c.1778C>G (p.Pro593Arg) c.1775C>G (p.Pro592Arg) n.384C>G n.2368C>G c.371C>G n.375C>G c.142C>G c.1781C>G (p.Pro594Arg) c.677C>G (p.Pro226Arg) | |
19 | g.12655746G>T | CA404244787 | MAN2B1 | c.1778C>A (p.Pro593Gln) c.1775C>A (p.Pro592Gln) n.384C>A n.2368C>A c.371C>A n.375C>A c.142C>A c.1781C>A (p.Pro594Gln) c.677C>A (p.Pro226Gln) | |
19 | g.12655747del | CA2582719283 | MAN2B1 | c.1778del (p.Pro593HisfsTer13) c.1775del (p.Pro592HisfsTer13) n.384del n.2368del c.371del n.375del c.142del c.1781del (p.Pro594HisfsTer13) c.677del (p.Pro226HisfsTer13) | gnomAD v4 |
19 | g.12655747G>A | CA305469541 | MAN2B1 | c.1777C>T (p.Pro593Ser) c.1774C>T (p.Pro592Ser) n.383C>T n.2367C>T c.370C>T n.374C>T c.141C>T c.1780C>T (p.Pro594Ser) c.676C>T (p.Pro226Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655747G>C | CA404244788 | MAN2B1 | c.1777C>G (p.Pro593Ala) c.1774C>G (p.Pro592Ala) n.383C>G n.2367C>G c.370C>G n.374C>G c.141C>G c.1780C>G (p.Pro594Ala) c.676C>G (p.Pro226Ala) | |
19 | g.12655747G= | CA2323502824 | MAN2B1 | c.1777C= (p.Pro593=) c.1774C= (p.Pro592=) n.383C= n.2367C= c.370C= n.374C= c.141C= c.1780C= (p.Pro594=) c.676C= (p.Pro226=) | |
19 | g.12655747G>T | CA404244789 | MAN2B1 | c.1777C>A (p.Pro593Thr) c.1774C>A (p.Pro592Thr) n.383C>A n.2367C>A c.370C>A n.374C>A c.141C>A c.1780C>A (p.Pro594Thr) c.676C>A (p.Pro226Thr) | gnomAD v4 |
19 | g.12655748T>A | CA505624698 | MAN2B1 | c.1776A>T (p.Ala592=) c.1773A>T (p.Ala591=) n.382A>T n.2366A>T c.369A>T n.373A>T c.140A>T c.1779A>T (p.Ala593=) c.675A>T (p.Ala225=) | |
19 | g.12655748T>C | CA505624700 | MAN2B1 | c.1776A>G (p.Ala592=) c.1773A>G (p.Ala591=) n.382A>G n.2366A>G c.369A>G n.373A>G c.140A>G c.1779A>G (p.Ala593=) c.675A>G (p.Ala225=) | gnomAD v4 |
19 | g.12655748T>G | CA505624699 | MAN2B1 | c.1776A>C (p.Ala592=) c.1773A>C (p.Ala591=) n.382A>C n.2366A>C c.369A>C n.373A>C c.140A>C c.1779A>C (p.Ala593=) c.675A>C (p.Ala225=) | |
19 | g.12655749G>A | CA404244790 | MAN2B1 | c.1775C>T (p.Ala592Val) c.1772C>T (p.Ala591Val) n.381C>T n.2365C>T c.368C>T n.372C>T c.139C>T c.1778C>T (p.Ala593Val) c.674C>T (p.Ala225Val) | gnomAD v4 |
19 | g.12655749G>C | CA404244792 | MAN2B1 | c.1775C>G (p.Ala592Gly) c.1772C>G (p.Ala591Gly) n.381C>G n.2365C>G c.368C>G n.372C>G c.139C>G c.1778C>G (p.Ala593Gly) c.674C>G (p.Ala225Gly) | |
19 | g.12655749G>T | CA404244791 | MAN2B1 | c.1775C>A (p.Ala592Glu) c.1772C>A (p.Ala591Glu) n.381C>A n.2365C>A c.368C>A n.372C>A c.139C>A c.1778C>A (p.Ala593Glu) c.674C>A (p.Ala225Glu) | |
19 | g.12655750C>A | CA404244793 | MAN2B1 | c.1774G>T (p.Ala592Ser) c.1771G>T (p.Ala591Ser) n.380G>T n.2364G>T c.367G>T n.371G>T c.138G>T c.1777G>T (p.Ala593Ser) c.673G>T (p.Ala225Ser) | gnomAD v4 |
19 | g.12655750C= | CA2323502825 | MAN2B1 | c.1774G= (p.Ala592=) c.1771G= (p.Ala591=) n.380G= n.2364G= c.367G= n.371G= c.138G= c.1777G= (p.Ala593=) c.673G= (p.Ala225=) | |
19 | g.12655750C>G | CA404244794 | MAN2B1 | c.1774G>C (p.Ala592Pro) c.1771G>C (p.Ala591Pro) n.380G>C n.2364G>C c.367G>C n.371G>C c.138G>C c.1777G>C (p.Ala593Pro) c.673G>C (p.Ala225Pro) | |
19 | g.12655750C>T | CA9226329 | MAN2B1 | c.1774G>A (p.Ala592Thr) c.1771G>A (p.Ala591Thr) n.380G>A n.2364G>A c.367G>A n.371G>A c.138G>A c.1777G>A (p.Ala593Thr) c.673G>A (p.Ala225Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655751G>A | CA305469547 | MAN2B1 | c.1773C>T (p.Arg591=) c.1770C>T (p.Arg590=) n.379C>T n.2363C>T c.366C>T n.370C>T c.137C>T c.1776C>T (p.Arg592=) c.672C>T (p.Arg224=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655751G>C | CA505624701 | MAN2B1 | c.1773C>G (p.Arg591=) c.1770C>G (p.Arg590=) n.379C>G n.2363C>G c.366C>G n.370C>G c.137C>G c.1776C>G (p.Arg592=) c.672C>G (p.Arg224=) | |
19 | g.12655751G= | CA2323502826 | MAN2B1 | c.1773C= (p.Arg591=) c.1770C= (p.Arg590=) n.379C= n.2363C= c.366C= n.370C= c.137C= c.1776C= (p.Arg592=) c.672C= (p.Arg224=) | |
19 | g.12655751G>T | CA505624702 | MAN2B1 | c.1773C>A (p.Arg591=) c.1770C>A (p.Arg590=) n.379C>A n.2363C>A c.366C>A n.370C>A c.137C>A c.1776C>A (p.Arg592=) c.672C>A (p.Arg224=) | |
19 | g.12655752C>A | CA404244795 | MAN2B1 | c.1772G>T (p.Arg591Leu) c.1769G>T (p.Arg590Leu) n.378G>T n.2362G>T c.365G>T n.369G>T c.136G>T c.1775G>T (p.Arg592Leu) c.671G>T (p.Arg224Leu) | |
19 | g.12655752C= | CA2323502827 | MAN2B1 | c.1772G= (p.Arg591=) c.1769G= (p.Arg590=) n.378G= n.2362G= c.365G= n.369G= c.136G= c.1775G= (p.Arg592=) c.671G= (p.Arg224=) | |
19 | g.12655752C>G | CA404244796 | MAN2B1 | c.1772G>C (p.Arg591Pro) c.1769G>C (p.Arg590Pro) n.378G>C n.2362G>C c.365G>C n.369G>C c.136G>C c.1775G>C (p.Arg592Pro) c.671G>C (p.Arg224Pro) | |
19 | g.12655752C>T | CA9226330 | MAN2B1 | c.1772G>A (p.Arg591His) c.1769G>A (p.Arg590His) n.378G>A n.2362G>A c.365G>A n.369G>A c.136G>A c.1775G>A (p.Arg592His) c.671G>A (p.Arg224His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655753G>A | CA404244797 | MAN2B1 | c.1771C>T (p.Arg591Cys) c.1768C>T (p.Arg590Cys) n.377C>T n.2361C>T c.364C>T n.368C>T c.135C>T c.1774C>T (p.Arg592Cys) c.670C>T (p.Arg224Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655753G>C | CA305469573 | MAN2B1 | c.1771C>G (p.Arg591Gly) c.1768C>G (p.Arg590Gly) n.377C>G n.2361C>G c.364C>G n.368C>G c.135C>G c.1774C>G (p.Arg592Gly) c.670C>G (p.Arg224Gly) | dbSNP |
19 | g.12655753G= | CA2323502828 | MAN2B1 | c.1771C= (p.Arg591=) c.1768C= (p.Arg590=) n.377C= n.2361C= c.364C= n.368C= c.135C= c.1774C= (p.Arg592=) c.670C= (p.Arg224=) | |
19 | g.12655753G>T | CA404244798 | MAN2B1 | c.1771C>A (p.Arg591Ser) c.1768C>A (p.Arg590Ser) n.377C>A n.2361C>A c.364C>A n.368C>A c.135C>A c.1774C>A (p.Arg592Ser) c.670C>A (p.Arg224Ser) | |
19 | g.12655754G>A | CA505624705 | MAN2B1 | c.1770C>T (p.Ala590=) c.1767C>T (p.Ala589=) n.376C>T n.2360C>T c.363C>T n.367C>T c.134C>T c.1773C>T (p.Ala591=) c.669C>T (p.Ala223=) | ClinVar |
19 | g.12655754G>C | CA505624703 | MAN2B1 | c.1770C>G (p.Ala590=) c.1767C>G (p.Ala589=) n.376C>G n.2360C>G c.363C>G n.367C>G c.134C>G c.1773C>G (p.Ala591=) c.669C>G (p.Ala223=) | gnomAD v4 |
19 | g.12655754G>T | CA505624704 | MAN2B1 | c.1770C>A (p.Ala590=) c.1767C>A (p.Ala589=) n.376C>A n.2360C>A c.363C>A n.367C>A c.134C>A c.1773C>A (p.Ala591=) c.669C>A (p.Ala223=) | |
19 | g.12655755G>A | CA404244799 | MAN2B1 | c.1769C>T (p.Ala590Val) c.1766C>T (p.Ala589Val) n.375C>T n.2359C>T c.362C>T n.366C>T c.133C>T c.1772C>T (p.Ala591Val) c.668C>T (p.Ala223Val) | |
19 | g.12655755G>C | CA404244800 | MAN2B1 | c.1769C>G (p.Ala590Gly) c.1766C>G (p.Ala589Gly) n.375C>G n.2359C>G c.362C>G n.366C>G c.133C>G c.1772C>G (p.Ala591Gly) c.668C>G (p.Ala223Gly) | |
19 | g.12655755G>T | CA404244801 | MAN2B1 | c.1769C>A (p.Ala590Asp) c.1766C>A (p.Ala589Asp) n.375C>A n.2359C>A c.362C>A n.366C>A c.133C>A c.1772C>A (p.Ala591Asp) c.668C>A (p.Ala223Asp) | |
19 | g.12655756C>A | CA404244804 | MAN2B1 | c.1768G>T (p.Ala590Ser) c.1765G>T (p.Ala589Ser) n.374G>T n.2358G>T c.361G>T n.365G>T c.132G>T c.1771G>T (p.Ala591Ser) c.667G>T (p.Ala223Ser) | |
19 | g.12655756C= | CA2323502829 | MAN2B1 | c.1768G= (p.Ala590=) c.1765G= (p.Ala589=) n.374G= n.2358G= c.361G= n.365G= c.132G= c.1771G= (p.Ala591=) c.667G= (p.Ala223=) | |
19 | g.12655756C>G | CA404244802 | MAN2B1 | c.1768G>C (p.Ala590Pro) c.1765G>C (p.Ala589Pro) n.374G>C n.2358G>C c.361G>C n.365G>C c.132G>C c.1771G>C (p.Ala591Pro) c.667G>C (p.Ala223Pro) | |
19 | g.12655756C>T | CA404244803 | MAN2B1 | c.1768G>A (p.Ala590Thr) c.1765G>A (p.Ala589Thr) n.374G>A n.2358G>A c.361G>A n.365G>A c.132G>A c.1771G>A (p.Ala591Thr) c.667G>A (p.Ala223Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655757del | CA2576634802 | MAN2B1 | c.1768del (p.Ala590ProfsTer16) c.1765del (p.Ala589ProfsTer16) n.374del n.2358del c.361del n.365del c.132del c.1771del (p.Ala591ProfsTer16) c.667del (p.Ala223ProfsTer16) | gnomAD v4 |
19 | g.12655757C>A | CA404244805 | MAN2B1 | c.1767G>T (p.Gln589His) c.1764G>T (p.Gln588His) n.373G>T n.2357G>T c.360G>T n.364G>T c.131G>T c.1770G>T (p.Gln590His) c.666G>T (p.Gln222His) | gnomAD v4 |
19 | g.12655757C>G | CA404244806 | MAN2B1 | c.1767G>C (p.Gln589His) c.1764G>C (p.Gln588His) n.373G>C n.2357G>C c.360G>C n.364G>C c.131G>C c.1770G>C (p.Gln590His) c.666G>C (p.Gln222His) | |
19 | g.12655757C>T | CA505624706 | MAN2B1 | c.1767G>A (p.Gln589=) c.1764G>A (p.Gln588=) n.373G>A n.2357G>A c.360G>A n.364G>A c.131G>A c.1770G>A (p.Gln590=) c.666G>A (p.Gln222=) | |
19 | g.12655758T>A | CA404244807 | MAN2B1 | c.1766A>T (p.Gln589Leu) c.1763A>T (p.Gln588Leu) n.372A>T n.2356A>T c.359A>T n.363A>T c.130A>T c.1769A>T (p.Gln590Leu) c.665A>T (p.Gln222Leu) | |
19 | g.12655758T>C | CA404244808 | MAN2B1 | c.1766A>G (p.Gln589Arg) c.1763A>G (p.Gln588Arg) n.372A>G n.2356A>G c.359A>G n.363A>G c.130A>G c.1769A>G (p.Gln590Arg) c.665A>G (p.Gln222Arg) | |
19 | g.12655758T>G | CA404244809 | MAN2B1 | c.1766A>C (p.Gln589Pro) c.1763A>C (p.Gln588Pro) n.372A>C n.2356A>C c.359A>C n.363A>C c.130A>C c.1769A>C (p.Gln590Pro) c.665A>C (p.Gln222Pro) | |
19 | g.12655759G>A | CA404244810 | MAN2B1 | c.1765C>T (p.Gln589Ter) c.1762C>T (p.Gln588Ter) n.371C>T n.2355C>T c.358C>T n.362C>T c.129C>T c.1768C>T (p.Gln590Ter) c.664C>T (p.Gln222Ter) | |
19 | g.12655759G>C | CA404244811 | MAN2B1 | c.1765C>G (p.Gln589Glu) c.1762C>G (p.Gln588Glu) n.371C>G n.2355C>G c.358C>G n.362C>G c.129C>G c.1768C>G (p.Gln590Glu) c.664C>G (p.Gln222Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655759G= | CA2323502830 | MAN2B1 | c.1765C= (p.Gln589=) c.1762C= (p.Gln588=) n.371C= n.2355C= c.358C= n.362C= c.129C= c.1768C= (p.Gln590=) c.664C= (p.Gln222=) | |
19 | g.12655759G>T | CA404244812 | MAN2B1 | c.1765C>A (p.Gln589Lys) c.1762C>A (p.Gln588Lys) n.371C>A n.2355C>A c.358C>A n.362C>A c.129C>A c.1768C>A (p.Gln590Lys) c.664C>A (p.Gln222Lys) | |
19 | g.12655762del | CA2582719284 | MAN2B1 | c.1765del (p.Gln589ArgfsTer17) c.1762del (p.Gln588ArgfsTer17) n.371del n.2355del c.358del n.362del c.129del c.1768del (p.Gln590ArgfsTer17) c.664del (p.Gln222ArgfsTer17) | gnomAD v4 |
19 | g.12655760G>A | CA505624709 | MAN2B1 | c.1764C>T (p.Pro588=) c.1761C>T (p.Pro587=) n.370C>T n.2354C>T c.357C>T n.361C>T c.128C>T c.1767C>T (p.Pro589=) c.663C>T (p.Pro221=) | |
19 | g.12655760G>C | CA505624707 | MAN2B1 | c.1764C>G (p.Pro588=) c.1761C>G (p.Pro587=) n.370C>G n.2354C>G c.357C>G n.361C>G c.128C>G c.1767C>G (p.Pro589=) c.663C>G (p.Pro221=) | |
19 | g.12655760G>T | CA505624708 | MAN2B1 | c.1764C>A (p.Pro588=) c.1761C>A (p.Pro587=) n.370C>A n.2354C>A c.357C>A n.361C>A c.128C>A c.1767C>A (p.Pro589=) c.663C>A (p.Pro221=) | |
19 | g.12655761G>A | CA404244813 | MAN2B1 | c.1763C>T (p.Pro588Leu) c.1760C>T (p.Pro587Leu) n.369C>T n.2353C>T c.356C>T n.360C>T c.127C>T c.1766C>T (p.Pro589Leu) c.662C>T (p.Pro221Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655761G>C | CA404244814 | MAN2B1 | c.1763C>G (p.Pro588Arg) c.1760C>G (p.Pro587Arg) n.369C>G n.2353C>G c.356C>G n.360C>G c.127C>G c.1766C>G (p.Pro589Arg) c.662C>G (p.Pro221Arg) | |
19 | g.12655761G= | CA2323502831 | MAN2B1 | c.1763C= (p.Pro588=) c.1760C= (p.Pro587=) n.369C= n.2353C= c.356C= n.360C= c.127C= c.1766C= (p.Pro589=) c.662C= (p.Pro221=) | |
19 | g.12655761G>T | CA404244815 | MAN2B1 | c.1763C>A (p.Pro588His) c.1760C>A (p.Pro587His) n.369C>A n.2353C>A c.356C>A n.360C>A c.127C>A c.1766C>A (p.Pro589His) c.662C>A (p.Pro221His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655762G>A | CA404244818 | MAN2B1 | c.1762C>T (p.Pro588Ser) c.1759C>T (p.Pro587Ser) n.368C>T n.2352C>T c.355C>T n.359C>T c.126C>T c.1765C>T (p.Pro589Ser) c.661C>T (p.Pro221Ser) | |
19 | g.12655762G>C | CA404244817 | MAN2B1 | c.1762C>G (p.Pro588Ala) c.1759C>G (p.Pro587Ala) n.368C>G n.2352C>G c.355C>G n.359C>G c.126C>G c.1765C>G (p.Pro589Ala) c.661C>G (p.Pro221Ala) | |
19 | g.12655762G>T | CA404244816 | MAN2B1 | c.1762C>A (p.Pro588Thr) c.1759C>A (p.Pro587Thr) n.368C>A n.2352C>A c.355C>A n.359C>A c.126C>A c.1765C>A (p.Pro589Thr) c.661C>A (p.Pro221Thr) | |
19 | g.12655763C>A | CA404244819 | MAN2B1 | c.1761G>T (p.Lys587Asn) c.1758G>T (p.Lys586Asn) n.367G>T n.2351G>T c.354G>T n.358G>T c.125G>T c.1764G>T (p.Lys588Asn) c.660G>T (p.Lys220Asn) | |
19 | g.12655763C>G | CA404244820 | MAN2B1 | c.1761G>C (p.Lys587Asn) c.1758G>C (p.Lys586Asn) n.367G>C n.2351G>C c.354G>C n.358G>C c.125G>C c.1764G>C (p.Lys588Asn) c.660G>C (p.Lys220Asn) | |
19 | g.12655763C>T | CA505624710 | MAN2B1 | c.1761G>A (p.Lys587=) c.1758G>A (p.Lys586=) n.367G>A n.2351G>A c.354G>A n.358G>A c.125G>A c.1764G>A (p.Lys588=) c.660G>A (p.Lys220=) | |
19 | g.12655764T>A | CA404244821 | MAN2B1 | c.1760A>T (p.Lys587Met) c.1757A>T (p.Lys586Met) n.366A>T n.2350A>T c.353A>T n.357A>T c.124A>T c.1763A>T (p.Lys588Met) c.659A>T (p.Lys220Met) | |
19 | g.12655764T>C | CA404244823 | MAN2B1 | c.1760A>G (p.Lys587Arg) c.1757A>G (p.Lys586Arg) n.366A>G n.2350A>G c.353A>G n.357A>G c.124A>G c.1763A>G (p.Lys588Arg) c.659A>G (p.Lys220Arg) | |
19 | g.12655764T>G | CA404244822 | MAN2B1 | c.1760A>C (p.Lys587Thr) c.1757A>C (p.Lys586Thr) n.366A>C n.2350A>C c.353A>C n.357A>C c.124A>C c.1763A>C (p.Lys588Thr) c.659A>C (p.Lys220Thr) | |
19 | g.12655765T>A | CA404244824 | MAN2B1 | c.1759A>T (p.Lys587Ter) c.1756A>T (p.Lys586Ter) n.365A>T n.2349A>T c.352A>T n.356A>T c.123A>T c.1762A>T (p.Lys588Ter) c.658A>T (p.Lys220Ter) | |
19 | g.12655765T>C | CA404244826 | MAN2B1 | c.1759A>G (p.Lys587Glu) c.1756A>G (p.Lys586Glu) n.365A>G n.2349A>G c.352A>G n.356A>G c.123A>G c.1762A>G (p.Lys588Glu) c.658A>G (p.Lys220Glu) | |
19 | g.12655765T>G | CA404244825 | MAN2B1 | c.1759A>C (p.Lys587Gln) c.1756A>C (p.Lys586Gln) n.365A>C n.2349A>C c.352A>C n.356A>C c.123A>C c.1762A>C (p.Lys588Gln) c.658A>C (p.Lys220Gln) | |
19 | g.12655766C>A | CA404244827 | MAN2B1 | c.1758G>T (p.Trp586Cys) c.1755G>T (p.Trp585Cys) n.364G>T n.2348G>T c.351G>T n.355G>T c.122G>T c.1761G>T (p.Trp587Cys) c.657G>T (p.Trp219Cys) | gnomAD v4 |
19 | g.12655766C>G | CA404244828 | MAN2B1 | c.1758G>C (p.Trp586Cys) c.1755G>C (p.Trp585Cys) n.364G>C n.2348G>C c.351G>C n.355G>C c.122G>C c.1761G>C (p.Trp587Cys) c.657G>C (p.Trp219Cys) | |
19 | g.12655766C>T | CA404244829 | MAN2B1 | c.1758G>A (p.Trp586Ter) c.1755G>A (p.Trp585Ter) n.364G>A n.2348G>A c.351G>A n.355G>A c.122G>A c.1761G>A (p.Trp587Ter) c.657G>A (p.Trp219Ter) | |
19 | g.12655767C>A | CA404244830 | MAN2B1 | c.1757G>T (p.Trp586Leu) c.1754G>T (p.Trp585Leu) n.363G>T n.2347G>T c.350G>T n.354G>T c.121G>T c.1760G>T (p.Trp587Leu) c.656G>T (p.Trp219Leu) | |
19 | g.12655767C>G | CA404244831 | MAN2B1 | c.1757G>C (p.Trp586Ser) c.1754G>C (p.Trp585Ser) n.363G>C n.2347G>C c.350G>C n.354G>C c.121G>C c.1760G>C (p.Trp587Ser) c.656G>C (p.Trp219Ser) | |
19 | g.12655767C>T | CA404244832 | MAN2B1 | c.1757G>A (p.Trp586Ter) c.1754G>A (p.Trp585Ter) n.363G>A n.2347G>A c.350G>A n.354G>A c.121G>A c.1760G>A (p.Trp587Ter) c.656G>A (p.Trp219Ter) | |
19 | g.12655768A>C | CA404244833 | MAN2B1 | c.1756T>G (p.Trp586Gly) c.1753T>G (p.Trp585Gly) n.362T>G n.2346T>G c.349T>G n.353T>G c.120T>G c.1759T>G (p.Trp587Gly) c.655T>G (p.Trp219Gly) | |
19 | g.12655768A>G | CA404244834 | MAN2B1 | c.1756T>C (p.Trp586Arg) c.1753T>C (p.Trp585Arg) n.362T>C n.2346T>C c.349T>C n.353T>C c.120T>C c.1759T>C (p.Trp587Arg) c.655T>C (p.Trp219Arg) | |
19 | g.12655768A>T | CA404244835 | MAN2B1 | c.1756T>A (p.Trp586Arg) c.1753T>A (p.Trp585Arg) n.362T>A n.2346T>A c.349T>A n.353T>A c.120T>A c.1759T>A (p.Trp587Arg) c.655T>A (p.Trp219Arg) | |
19 | g.12655769G>A | CA505624711 | MAN2B1 | c.1755C>T (p.Arg585=) c.1752C>T (p.Arg584=) n.361C>T n.2345C>T c.348C>T n.352C>T c.119C>T c.1758C>T (p.Arg586=) c.654C>T (p.Arg218=) | |
19 | g.12655769G>C | CA9226331 | MAN2B1 | c.1755C>G (p.Arg585=) c.1752C>G (p.Arg584=) n.361C>G n.2345C>G c.348C>G n.352C>G c.119C>G c.1758C>G (p.Arg586=) c.654C>G (p.Arg218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12655769G= | CA2323502832 | MAN2B1 | c.1755C= (p.Arg585=) c.1752C= (p.Arg584=) n.361C= n.2345C= c.348C= n.352C= c.119C= c.1758C= (p.Arg586=) c.654C= (p.Arg218=) | |
19 | g.12655769G>T | CA505624712 | MAN2B1 | c.1755C>A (p.Arg585=) c.1752C>A (p.Arg584=) n.361C>A n.2345C>A c.348C>A n.352C>A c.119C>A c.1758C>A (p.Arg586=) c.654C>A (p.Arg218=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12655770C>A | CA404244836 | MAN2B1 | c.1754G>T (p.Arg585Leu) c.1751G>T (p.Arg584Leu) n.360G>T n.2344G>T c.347G>T n.351G>T c.118G>T c.1757G>T (p.Arg586Leu) c.653G>T (p.Arg218Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655770C= | CA2323502833 | MAN2B1 | c.1754G= (p.Arg585=) c.1751G= (p.Arg584=) n.360G= n.2344G= c.347G= n.351G= c.118G= c.1757G= (p.Arg586=) c.653G= (p.Arg218=) | |
19 | g.12655770C>G | CA404244837 | MAN2B1 | c.1754G>C (p.Arg585Pro) c.1751G>C (p.Arg584Pro) n.360G>C n.2344G>C c.347G>C n.351G>C c.118G>C c.1757G>C (p.Arg586Pro) c.653G>C (p.Arg218Pro) | |
19 | g.12655770C>T | CA404244838 | MAN2B1 | c.1754G>A (p.Arg585His) c.1751G>A (p.Arg584His) n.360G>A n.2344G>A c.347G>A n.351G>A c.118G>A c.1757G>A (p.Arg586His) c.653G>A (p.Arg218His) | dbSNP gnomAD v4 |
19 | g.12655771G>A | CA9226332 | MAN2B1 | c.1753C>T (p.Arg585Cys) c.1750C>T (p.Arg584Cys) n.359C>T n.2343C>T c.346C>T n.350C>T c.117C>T c.1756C>T (p.Arg586Cys) c.652C>T (p.Arg218Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12655771G>C | CA404244840 | MAN2B1 | c.1753C>G (p.Arg585Gly) c.1750C>G (p.Arg584Gly) n.359C>G n.2343C>G c.346C>G n.350C>G c.117C>G c.1756C>G (p.Arg586Gly) c.652C>G (p.Arg218Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655771G= | CA2323502834 | MAN2B1 | c.1753C= (p.Arg585=) c.1750C= (p.Arg584=) n.359C= n.2343C= c.346C= n.350C= c.117C= c.1756C= (p.Arg586=) c.652C= (p.Arg218=) | |
19 | g.12655771G>T | CA404244839 | MAN2B1 | c.1753C>A (p.Arg585Ser) c.1750C>A (p.Arg584Ser) n.359C>A n.2343C>A c.346C>A n.350C>A c.117C>A c.1756C>A (p.Arg586Ser) c.652C>A (p.Arg218Ser) | |
19 | g.12655772A>C | CA505624713 | MAN2B1 | c.1752T>G (p.Pro584=) c.1749T>G (p.Pro583=) n.358T>G n.2342T>G c.345T>G n.349T>G c.116T>G c.1755T>G (p.Pro585=) c.651T>G (p.Pro217=) | |
19 | g.12655772A>G | CA505624714 | MAN2B1 | c.1752T>C (p.Pro584=) c.1749T>C (p.Pro583=) n.358T>C n.2342T>C c.345T>C n.349T>C c.116T>C c.1755T>C (p.Pro585=) c.651T>C (p.Pro217=) | COSMIC |
19 | g.12655772A>T | CA505624715 | MAN2B1 | c.1752T>A (p.Pro584=) c.1749T>A (p.Pro583=) n.358T>A n.2342T>A c.345T>A n.349T>A c.116T>A c.1755T>A (p.Pro585=) c.651T>A (p.Pro217=) | |
19 | g.12655773G>A | CA404244841 | MAN2B1 | c.1751C>T (p.Pro584Leu) c.1748C>T (p.Pro583Leu) n.357C>T n.2341C>T c.344C>T n.348C>T c.115C>T c.1754C>T (p.Pro585Leu) c.650C>T (p.Pro217Leu) | |
19 | g.12655773G>C | CA404244842 | MAN2B1 | c.1751C>G (p.Pro584Arg) c.1748C>G (p.Pro583Arg) n.357C>G n.2341C>G c.344C>G n.348C>G c.115C>G c.1754C>G (p.Pro585Arg) c.650C>G (p.Pro217Arg) | |
19 | g.12655773G>T | CA404244843 | MAN2B1 | c.1751C>A (p.Pro584His) c.1748C>A (p.Pro583His) n.357C>A n.2341C>A c.344C>A n.348C>A c.115C>A c.1754C>A (p.Pro585His) c.650C>A (p.Pro217His) | |
19 | g.12655774G>A | CA404244844 | MAN2B1 | c.1750C>T (p.Pro584Ser) c.1747C>T (p.Pro583Ser) n.356C>T n.2340C>T c.343C>T n.347C>T c.114C>T c.1753C>T (p.Pro585Ser) c.649C>T (p.Pro217Ser) | dbSNP gnomAD v4 |
19 | g.12655774G>C | CA404244845 | MAN2B1 | c.1750C>G (p.Pro584Ala) c.1747C>G (p.Pro583Ala) n.356C>G n.2340C>G c.343C>G n.347C>G c.114C>G c.1753C>G (p.Pro585Ala) c.649C>G (p.Pro217Ala) | |
19 | g.12655774G= | CA2323502835 | MAN2B1 | c.1750C= (p.Pro584=) c.1747C= (p.Pro583=) n.356C= n.2340C= c.343C= n.347C= c.114C= c.1753C= (p.Pro585=) c.649C= (p.Pro217=) | |
19 | g.12655774G>T | CA404244846 | MAN2B1 | c.1750C>A (p.Pro584Thr) c.1747C>A (p.Pro583Thr) n.356C>A n.2340C>A c.343C>A n.347C>A c.114C>A c.1753C>A (p.Pro585Thr) c.649C>A (p.Pro217Thr) | |
19 | g.12655775C>A | CA505624716 | MAN2B1 | c.1749G>T (p.Val583=) c.1746G>T (p.Val582=) n.355G>T n.2339G>T c.342G>T n.346G>T c.113G>T c.1752G>T (p.Val584=) c.648G>T (p.Val216=) | |
19 | g.12655775C>G | CA505624717 | MAN2B1 | c.1749G>C (p.Val583=) c.1746G>C (p.Val582=) n.355G>C n.2339G>C c.342G>C n.346G>C c.113G>C c.1752G>C (p.Val584=) c.648G>C (p.Val216=) | |
19 | g.12655775C>T | CA505624718 | MAN2B1 | c.1749G>A (p.Val583=) c.1746G>A (p.Val582=) n.355G>A n.2339G>A c.342G>A n.346G>A c.113G>A c.1752G>A (p.Val584=) c.648G>A (p.Val216=) | gnomAD v4 |
19 | g.12655776A>C | CA404244847 | MAN2B1 | c.1748T>G (p.Val583Gly) c.1745T>G (p.Val582Gly) n.354T>G n.2338T>G c.341T>G n.345T>G c.112T>G c.1751T>G (p.Val584Gly) c.647T>G (p.Val216Gly) | |
19 | g.12655776A>G | CA404244848 | MAN2B1 | c.1748T>C (p.Val583Ala) c.1745T>C (p.Val582Ala) n.354T>C n.2338T>C c.341T>C n.345T>C c.112T>C c.1751T>C (p.Val584Ala) c.647T>C (p.Val216Ala) | |
19 | g.12655776A>T | CA404244849 | MAN2B1 | c.1748T>A (p.Val583Glu) c.1745T>A (p.Val582Glu) n.354T>A n.2338T>A c.341T>A n.345T>A c.112T>A c.1751T>A (p.Val584Glu) c.647T>A (p.Val216Glu) | ClinVar dbSNP |
19 | g.12655777C>A | CA404244852 | MAN2B1 | c.1747G>T (p.Val583Leu) c.1744G>T (p.Val582Leu) n.353G>T n.2337G>T c.340G>T n.344G>T c.111G>T c.1750G>T (p.Val584Leu) c.646G>T (p.Val216Leu) | |
19 | g.12655777C= | CA2323502836 | MAN2B1 | c.1747G= (p.Val583=) c.1744G= (p.Val582=) n.353G= n.2337G= c.340G= n.344G= c.111G= c.1750G= (p.Val584=) c.646G= (p.Val216=) | |
19 | g.12655777C>G | CA404244851 | MAN2B1 | c.1747G>C (p.Val583Leu) c.1744G>C (p.Val582Leu) n.353G>C n.2337G>C c.340G>C n.344G>C c.111G>C c.1750G>C (p.Val584Leu) c.646G>C (p.Val216Leu) | |
19 | g.12655777C>T | CA404244850 | MAN2B1 | c.1747G>A (p.Val583Met) c.1744G>A (p.Val582Met) n.353G>A n.2337G>A c.340G>A n.344G>A c.111G>A c.1750G>A (p.Val584Met) c.646G>A (p.Val216Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12655778C>A | CA404244853 | MAN2B1 | c.1746G>T (p.Gln582His) c.1743G>T (p.Gln581His) n.352G>T n.2336G>T c.339G>T n.343G>T c.110G>T c.1749G>T (p.Gln583His) c.645G>T (p.Gln215His) | |
19 | g.12655778C>G | CA404244854 | MAN2B1 | c.1746G>C (p.Gln582His) c.1743G>C (p.Gln581His) n.352G>C n.2336G>C c.339G>C n.343G>C c.110G>C c.1749G>C (p.Gln583His) c.645G>C (p.Gln215His) | |
19 | g.12655778C>T | CA505624719 | MAN2B1 | c.1746G>A (p.Gln582=) c.1743G>A (p.Gln581=) n.352G>A n.2336G>A c.339G>A n.343G>A c.110G>A c.1749G>A (p.Gln583=) c.645G>A (p.Gln215=) | |
19 | g.12655779T>A | CA404244855 | MAN2B1 | c.1745A>T (p.Gln582Leu) c.1742A>T (p.Gln581Leu) n.351A>T n.2335A>T c.338A>T n.342A>T c.109A>T c.1748A>T (p.Gln583Leu) c.644A>T (p.Gln215Leu) | |
19 | g.12655779T>C | CA404244856 | MAN2B1 | c.1745A>G (p.Gln582Arg) c.1742A>G (p.Gln581Arg) n.351A>G n.2335A>G c.338A>G n.342A>G c.109A>G c.1748A>G (p.Gln583Arg) c.644A>G (p.Gln215Arg) | |
19 | g.12655779T>G | CA404244857 | MAN2B1 | c.1745A>C (p.Gln582Pro) c.1742A>C (p.Gln581Pro) n.351A>C n.2335A>C c.338A>C n.342A>C c.109A>C c.1748A>C (p.Gln583Pro) c.644A>C (p.Gln215Pro) | |
19 | g.12655780G>A | CA404244858 | MAN2B1 | c.1744C>T (p.Gln582Ter) c.1741C>T (p.Gln581Ter) n.350C>T n.2334C>T c.337C>T n.341C>T c.108C>T c.1747C>T (p.Gln583Ter) c.643C>T (p.Gln215Ter) | |
19 | g.12655780G>C | CA9226333 | MAN2B1 | c.1744C>G (p.Gln582Glu) c.1741C>G (p.Gln581Glu) n.350C>G n.2334C>G c.337C>G n.341C>G c.108C>G c.1747C>G (p.Gln583Glu) c.643C>G (p.Gln215Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655780G= | CA2323502837 | MAN2B1 | c.1744C= (p.Gln582=) c.1741C= (p.Gln581=) n.350C= n.2334C= c.337C= n.341C= c.108C= c.1747C= (p.Gln583=) c.643C= (p.Gln215=) | |
19 | g.12655780G>T | CA404244859 | MAN2B1 | c.1744C>A (p.Gln582Lys) c.1741C>A (p.Gln581Lys) n.350C>A n.2334C>A c.337C>A n.341C>A c.108C>A c.1747C>A (p.Gln583Lys) c.643C>A (p.Gln215Lys) | |
19 | g.12655781G>A | CA505624720 | MAN2B1 | c.1743C>T (p.Ala581=) c.1740C>T (p.Ala580=) n.349C>T n.2333C>T c.336C>T n.340C>T c.107C>T c.1746C>T (p.Ala582=) c.642C>T (p.Ala214=) | |
19 | g.12655781G>C | CA505624722 | MAN2B1 | c.1743C>G (p.Ala581=) c.1740C>G (p.Ala580=) n.349C>G n.2333C>G c.336C>G n.340C>G c.107C>G c.1746C>G (p.Ala582=) c.642C>G (p.Ala214=) | |
19 | g.12655781G>T | CA505624721 | MAN2B1 | c.1743C>A (p.Ala581=) c.1740C>A (p.Ala580=) n.349C>A n.2333C>A c.336C>A n.340C>A c.107C>A c.1746C>A (p.Ala582=) c.642C>A (p.Ala214=) | |
19 | g.12655782G>A | CA404244860 | MAN2B1 | c.1742C>T (p.Ala581Val) c.1739C>T (p.Ala580Val) n.348C>T n.2332C>T c.335C>T n.339C>T c.106C>T c.1745C>T (p.Ala582Val) c.641C>T (p.Ala214Val) | gnomAD v4 |
19 | g.12655782G>C | CA404244861 | MAN2B1 | c.1742C>G (p.Ala581Gly) c.1739C>G (p.Ala580Gly) n.348C>G n.2332C>G c.335C>G n.339C>G c.106C>G c.1745C>G (p.Ala582Gly) c.641C>G (p.Ala214Gly) | |
19 | g.12655782G>T | CA404244862 | MAN2B1 | c.1742C>A (p.Ala581Asp) c.1739C>A (p.Ala580Asp) n.348C>A n.2332C>A c.335C>A n.339C>A c.106C>A c.1745C>A (p.Ala582Asp) c.641C>A (p.Ala214Asp) | |
19 | g.12655783C>A | CA404244865 | MAN2B1 | c.1741G>T (p.Ala581Ser) c.1738G>T (p.Ala580Ser) n.347G>T n.2331G>T c.334G>T n.338G>T c.105G>T c.1744G>T (p.Ala582Ser) c.640G>T (p.Ala214Ser) | |
19 | g.12655783C>G | CA404244864 | MAN2B1 | c.1741G>C (p.Ala581Pro) c.1738G>C (p.Ala580Pro) n.347G>C n.2331G>C c.334G>C n.338G>C c.105G>C c.1744G>C (p.Ala582Pro) c.640G>C (p.Ala214Pro) | |
19 | g.12655783C>T | CA404244863 | MAN2B1 | c.1741G>A (p.Ala581Thr) c.1738G>A (p.Ala580Thr) n.347G>A n.2331G>A c.334G>A n.338G>A c.105G>A c.1744G>A (p.Ala582Thr) c.640G>A (p.Ala214Thr) | ClinVar dbSNP |
19 | g.12655785_12655787del | CA2580096475 | MAN2B1 | c.1739_1741del (p.Val580del) c.1736_1738del (p.Val579del) n.345_347del n.2329_2331del c.332_334del n.336_338del c.103_105del c.1742_1744del (p.Val581del) c.638_640del (p.Val213del) | ClinVar |
19 | g.12655784T>A | CA505624723 | MAN2B1 | c.1740A>T (p.Val580=) c.1737A>T (p.Val579=) n.346A>T n.2330A>T c.333A>T n.337A>T c.104A>T c.1743A>T (p.Val581=) c.639A>T (p.Val213=) | |
19 | g.12655784T>C | CA9226334 | MAN2B1 | c.1740A>G (p.Val580=) c.1737A>G (p.Val579=) n.346A>G n.2330A>G c.333A>G n.337A>G c.104A>G c.1743A>G (p.Val581=) c.639A>G (p.Val213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12655784T>G | CA505624724 | MAN2B1 | c.1740A>C (p.Val580=) c.1737A>C (p.Val579=) n.346A>C n.2330A>C c.333A>C n.337A>C c.104A>C c.1743A>C (p.Val581=) c.639A>C (p.Val213=) | |
19 | g.12655784T= | CA2323502838 | MAN2B1 | c.1740A= (p.Val580=) c.1737A= (p.Val579=) n.346A= n.2330A= c.333A= n.337A= c.104A= c.1743A= (p.Val581=) c.639A= (p.Val213=) | |
19 | g.12655785A>C | CA404244866 | MAN2B1 | c.1739T>G (p.Val580Gly) c.1736T>G (p.Val579Gly) n.345T>G n.2329T>G c.332T>G n.336T>G c.103T>G c.1742T>G (p.Val581Gly) c.638T>G (p.Val213Gly) | |
19 | g.12655785A>G | CA404244867 | MAN2B1 | c.1739T>C (p.Val580Ala) c.1736T>C (p.Val579Ala) n.345T>C n.2329T>C c.332T>C n.336T>C c.103T>C c.1742T>C (p.Val581Ala) c.638T>C (p.Val213Ala) | gnomAD v4 COSMIC |
19 | g.12655785A>T | CA404244868 | MAN2B1 | c.1739T>A (p.Val580Glu) c.1736T>A (p.Val579Glu) n.345T>A n.2329T>A c.332T>A n.336T>A c.103T>A c.1742T>A (p.Val581Glu) c.638T>A (p.Val213Glu) | |
19 | g.12655786C>A | CA404244869 | MAN2B1 | c.1738G>T (p.Val580Leu) c.1735G>T (p.Val579Leu) n.344G>T n.2328G>T c.331G>T n.335G>T c.102G>T c.1741G>T (p.Val581Leu) c.637G>T (p.Val213Leu) | |
19 | g.12655786C>G | CA404244870 | MAN2B1 | c.1738G>C (p.Val580Leu) c.1735G>C (p.Val579Leu) n.344G>C n.2328G>C c.331G>C n.335G>C c.102G>C c.1741G>C (p.Val581Leu) c.637G>C (p.Val213Leu) | |
19 | g.12655786C>T | CA404244871 | MAN2B1 | c.1738G>A (p.Val580Ile) c.1735G>A (p.Val579Ile) n.344G>A n.2328G>A c.331G>A n.335G>A c.102G>A c.1741G>A (p.Val581Ile) c.637G>A (p.Val213Ile) | gnomAD v4 |
19 | g.12655787T>A | CA505624725 | MAN2B1 | c.1737A>T (p.Ser579=) c.1734A>T (p.Ser578=) n.343A>T n.2327A>T c.330A>T n.334A>T c.101A>T c.1740A>T (p.Ser580=) c.636A>T (p.Ser212=) | |
19 | g.12655787T>C | CA505624726 | MAN2B1 | c.1737A>G (p.Ser579=) c.1734A>G (p.Ser578=) n.343A>G n.2327A>G c.330A>G n.334A>G c.101A>G c.1740A>G (p.Ser580=) c.636A>G (p.Ser212=) | dbSNP gnomAD v4 |
19 | g.12655787T>G | CA505624727 | MAN2B1 | c.1737A>C (p.Ser579=) c.1734A>C (p.Ser578=) n.343A>C n.2327A>C c.330A>C n.334A>C c.101A>C c.1740A>C (p.Ser580=) c.636A>C (p.Ser212=) | |
19 | g.12655788G>A | CA404244872 | MAN2B1 | c.1736C>T (p.Ser579Leu) c.1733C>T (p.Ser578Leu) n.342C>T n.2326C>T c.329C>T n.333C>T c.100C>T c.1739C>T (p.Ser580Leu) c.635C>T (p.Ser212Leu) | |
19 | g.12655788G>C | CA404244873 | MAN2B1 | c.1736C>G (p.Ser579Ter) c.1733C>G (p.Ser578Ter) n.342C>G n.2326C>G c.329C>G n.333C>G c.100C>G c.1739C>G (p.Ser580Ter) c.635C>G (p.Ser212Ter) | ClinVar dbSNP |
19 | g.12655788G= | CA2323502839 | MAN2B1 | c.1736C= (p.Ser579=) c.1733C= (p.Ser578=) n.342C= n.2326C= c.329C= n.333C= c.100C= c.1739C= (p.Ser580=) c.635C= (p.Ser212=) | |
19 | g.12655788G>T | CA404244874 | MAN2B1 | c.1736C>A (p.Ser579Ter) c.1733C>A (p.Ser578Ter) n.342C>A n.2326C>A c.329C>A n.333C>A c.100C>A c.1739C>A (p.Ser580Ter) c.635C>A (p.Ser212Ter) | |
19 | g.12655789A= | CA2323502840 | MAN2B1 | c.1735T= (p.Ser579=) c.1732T= (p.Ser578=) n.341T= n.2325T= c.328T= n.332T= c.99T= c.1738T= (p.Ser580=) c.634T= (p.Ser212=) | |
19 | g.12655789A>C | CA404244875 | MAN2B1 | c.1735T>G (p.Ser579Ala) c.1732T>G (p.Ser578Ala) n.341T>G n.2325T>G c.328T>G n.332T>G c.99T>G c.1738T>G (p.Ser580Ala) c.634T>G (p.Ser212Ala) | dbSNP |
19 | g.12655789A>G | CA404244876 | MAN2B1 | c.1735T>C (p.Ser579Pro) c.1732T>C (p.Ser578Pro) n.341T>C n.2325T>C c.328T>C n.332T>C c.99T>C c.1738T>C (p.Ser580Pro) c.634T>C (p.Ser212Pro) | dbSNP |
19 | g.12655789A>T | CA404244877 | MAN2B1 | c.1735T>A (p.Ser579Thr) c.1732T>A (p.Ser578Thr) n.341T>A n.2325T>A c.328T>A n.332T>A c.99T>A c.1738T>A (p.Ser580Thr) c.634T>A (p.Ser212Thr) | |
19 | g.12655790A= | CA2323502841 | MAN2B1 | c.1734T= (p.Tyr578=) c.1731T= (p.Tyr577=) n.340T= n.2324T= c.327T= n.331T= c.98T= c.1737T= (p.Tyr579=) c.633T= (p.Tyr211=) | |
19 | g.12655790A>C | CA404244878 | MAN2B1 | c.1734T>G (p.Tyr578Ter) c.1731T>G (p.Tyr577Ter) n.340T>G n.2324T>G c.327T>G n.331T>G c.98T>G c.1737T>G (p.Tyr579Ter) c.633T>G (p.Tyr211Ter) | |
19 | g.12655790A>G | CA505624728 | MAN2B1 | c.1734T>C (p.Tyr578=) c.1731T>C (p.Tyr577=) n.340T>C n.2324T>C c.327T>C n.331T>C c.98T>C c.1737T>C (p.Tyr579=) c.633T>C (p.Tyr211=) | ClinVar dbSNP |
19 | g.12655790A>T | CA404244879 | MAN2B1 | c.1734T>A (p.Tyr578Ter) c.1731T>A (p.Tyr577Ter) n.340T>A n.2324T>A c.327T>A n.331T>A c.98T>A c.1737T>A (p.Tyr579Ter) c.633T>A (p.Tyr211Ter) | |
19 | g.12655790_12655800delinsT | CA2580096476 | MAN2B1 | c.1724_1734delinsA (p.Phe575TyrfsTer3) c.1721_1731delinsA (p.Phe574TyrfsTer3) n.330_340delinsA n.2314_2324delinsA c.317_327delinsA n.321_331delinsA c.88_98delinsA c.1727_1737delinsA (p.Phe576TyrfsTer3) c.623_633delinsA (p.Phe208TyrfsTer3) | ClinVar |
19 | g.12655791T>A | CA404244880 | MAN2B1 | c.1733A>T (p.Tyr578Phe) c.1730A>T (p.Tyr577Phe) n.339A>T n.2323A>T c.326A>T n.330A>T c.97A>T c.1736A>T (p.Tyr579Phe) c.632A>T (p.Tyr211Phe) | |
19 | g.12655791T>C | CA404244882 | MAN2B1 | c.1733A>G (p.Tyr578Cys) c.1730A>G (p.Tyr577Cys) n.339A>G n.2323A>G c.326A>G n.330A>G c.97A>G c.1736A>G (p.Tyr579Cys) c.632A>G (p.Tyr211Cys) | |
19 | g.12655791T>G | CA404244881 | MAN2B1 | c.1733A>C (p.Tyr578Ser) c.1730A>C (p.Tyr577Ser) n.339A>C n.2323A>C c.326A>C n.330A>C c.97A>C c.1736A>C (p.Tyr579Ser) c.632A>C (p.Tyr211Ser) | |
19 | g.12655792A>C | CA404244883 | MAN2B1 | c.1732T>G (p.Tyr578Asp) c.1729T>G (p.Tyr577Asp) n.338T>G n.2322T>G c.325T>G n.329T>G c.96T>G c.1735T>G (p.Tyr579Asp) c.631T>G (p.Tyr211Asp) | |
19 | g.12655792A>G | CA404244884 | MAN2B1 | c.1732T>C (p.Tyr578His) c.1729T>C (p.Tyr577His) n.338T>C n.2322T>C c.325T>C n.329T>C c.96T>C c.1735T>C (p.Tyr579His) c.631T>C (p.Tyr211His) | |
19 | g.12655792A>T | CA404244885 | MAN2B1 | c.1732T>A (p.Tyr578Asn) c.1729T>A (p.Tyr577Asn) n.338T>A n.2322T>A c.325T>A n.329T>A c.96T>A c.1735T>A (p.Tyr579Asn) c.631T>A (p.Tyr211Asn) | |
19 | g.12655793G>A | CA9226335 | MAN2B1 | c.1731C>T (p.Thr577=) c.1728C>T (p.Thr576=) n.337C>T n.2321C>T c.324C>T n.328C>T c.95C>T c.1734C>T (p.Thr578=) c.630C>T (p.Thr210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655793G>C | CA505624730 | MAN2B1 | c.1731C>G (p.Thr577=) c.1728C>G (p.Thr576=) n.337C>G n.2321C>G c.324C>G n.328C>G c.95C>G c.1734C>G (p.Thr578=) c.630C>G (p.Thr210=) | |
19 | g.12655793G= | CA2323502842 | MAN2B1 | c.1731C= (p.Thr577=) c.1728C= (p.Thr576=) n.337C= n.2321C= c.324C= n.328C= c.95C= c.1734C= (p.Thr578=) c.630C= (p.Thr210=) | |
19 | g.12655793G>T | CA505624729 | MAN2B1 | c.1731C>A (p.Thr577=) c.1728C>A (p.Thr576=) n.337C>A n.2321C>A c.324C>A n.328C>A c.95C>A c.1734C>A (p.Thr578=) c.630C>A (p.Thr210=) | |
19 | g.12655794G>A | CA404244886 | MAN2B1 | c.1730C>T (p.Thr577Ile) c.1727C>T (p.Thr576Ile) n.336C>T n.2320C>T c.323C>T n.327C>T c.94C>T c.1733C>T (p.Thr578Ile) c.629C>T (p.Thr210Ile) | gnomAD v4 |
19 | g.12655794G>C | CA404244887 | MAN2B1 | c.1730C>G (p.Thr577Ser) c.1727C>G (p.Thr576Ser) n.336C>G n.2320C>G c.323C>G n.327C>G c.94C>G c.1733C>G (p.Thr578Ser) c.629C>G (p.Thr210Ser) | ClinVar dbSNP |
19 | g.12655794G>T | CA404244888 | MAN2B1 | c.1730C>A (p.Thr577Asn) c.1727C>A (p.Thr576Asn) n.336C>A n.2320C>A c.323C>A n.327C>A c.94C>A c.1733C>A (p.Thr578Asn) c.629C>A (p.Thr210Asn) | |
19 | g.12655795T>A | CA404244889 | MAN2B1 | c.1729A>T (p.Thr577Ser) c.1726A>T (p.Thr576Ser) n.335A>T n.2319A>T c.322A>T n.326A>T c.93A>T c.1732A>T (p.Thr578Ser) c.628A>T (p.Thr210Ser) | |
19 | g.12655795T>C | CA404244890 | MAN2B1 | c.1729A>G (p.Thr577Ala) c.1726A>G (p.Thr576Ala) n.335A>G n.2319A>G c.322A>G n.326A>G c.93A>G c.1732A>G (p.Thr578Ala) c.628A>G (p.Thr210Ala) | |
19 | g.12655795T>G | CA404244891 | MAN2B1 | c.1729A>C (p.Thr577Pro) c.1726A>C (p.Thr576Pro) n.335A>C n.2319A>C c.322A>C n.326A>C c.93A>C c.1732A>C (p.Thr578Pro) c.628A>C (p.Thr210Pro) | |
19 | g.12655796G>A | CA505624731 | MAN2B1 | c.1728C>T (p.Ser576=) c.1725C>T (p.Ser575=) n.334C>T n.2318C>T c.321C>T n.325C>T c.92C>T c.1731C>T (p.Ser577=) c.627C>T (p.Ser209=) | |
19 | g.12655796G>C | CA404244892 | MAN2B1 | c.1728C>G (p.Ser576Arg) c.1725C>G (p.Ser575Arg) n.334C>G n.2318C>G c.321C>G n.325C>G c.92C>G c.1731C>G (p.Ser577Arg) c.627C>G (p.Ser209Arg) | |
19 | g.12655796G>T | CA404244893 | MAN2B1 | c.1728C>A (p.Ser576Arg) c.1725C>A (p.Ser575Arg) n.334C>A n.2318C>A c.321C>A n.325C>A c.92C>A c.1731C>A (p.Ser577Arg) c.627C>A (p.Ser209Arg) | |
19 | g.12655797C>A | CA404244894 | MAN2B1 | c.1727G>T (p.Ser576Ile) c.1724G>T (p.Ser575Ile) n.333G>T n.2317G>T c.320G>T n.324G>T c.91G>T c.1730G>T (p.Ser577Ile) c.626G>T (p.Ser209Ile) | |
19 | g.12655797C>G | CA404244896 | MAN2B1 | c.1727G>C (p.Ser576Thr) c.1724G>C (p.Ser575Thr) n.333G>C n.2317G>C c.320G>C n.324G>C c.91G>C c.1730G>C (p.Ser577Thr) c.626G>C (p.Ser209Thr) | |
19 | g.12655797C>T | CA404244895 | MAN2B1 | c.1727G>A (p.Ser576Asn) c.1724G>A (p.Ser575Asn) n.333G>A n.2317G>A c.320G>A n.324G>A c.91G>A c.1730G>A (p.Ser577Asn) c.626G>A (p.Ser209Asn) | |
19 | g.12655798T>A | CA404244897 | MAN2B1 | c.1726A>T (p.Ser576Cys) c.1723A>T (p.Ser575Cys) n.332A>T n.2316A>T c.319A>T n.323A>T c.90A>T c.1729A>T (p.Ser577Cys) c.625A>T (p.Ser209Cys) | |
19 | g.12655798T>C | CA404244898 | MAN2B1 | c.1726A>G (p.Ser576Gly) c.1723A>G (p.Ser575Gly) n.332A>G n.2316A>G c.319A>G n.323A>G c.90A>G c.1729A>G (p.Ser577Gly) c.625A>G (p.Ser209Gly) | |
19 | g.12655798T>G | CA404244899 | MAN2B1 | c.1726A>C (p.Ser576Arg) c.1723A>C (p.Ser575Arg) n.332A>C n.2316A>C c.319A>C n.323A>C c.90A>C c.1729A>C (p.Ser577Arg) c.625A>C (p.Ser209Arg) | |
19 | g.12655799G>A | CA9226336 | MAN2B1 | c.1725C>T (p.Phe575=) c.1722C>T (p.Phe574=) n.331C>T n.2315C>T c.318C>T n.322C>T c.89C>T c.1728C>T (p.Phe576=) c.624C>T (p.Phe208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12655799G>C | CA404244900 | MAN2B1 | c.1725C>G (p.Phe575Leu) c.1722C>G (p.Phe574Leu) n.331C>G n.2315C>G c.318C>G n.322C>G c.89C>G c.1728C>G (p.Phe576Leu) c.624C>G (p.Phe208Leu) | |
19 | g.12655799G= | CA2323502843 | MAN2B1 | c.1725C= (p.Phe575=) c.1722C= (p.Phe574=) n.331C= n.2315C= c.318C= n.322C= c.89C= c.1728C= (p.Phe576=) c.624C= (p.Phe208=) | |
19 | g.12655799G>T | CA404244901 | MAN2B1 | c.1725C>A (p.Phe575Leu) c.1722C>A (p.Phe574Leu) n.331C>A n.2315C>A c.318C>A n.322C>A c.89C>A c.1728C>A (p.Phe576Leu) c.624C>A (p.Phe208Leu) | |
19 | g.12655800A>C | CA404244902 | MAN2B1 | c.1724T>G (p.Phe575Cys) c.1721T>G (p.Phe574Cys) n.330T>G n.2314T>G c.317T>G n.321T>G c.88T>G c.1727T>G (p.Phe576Cys) c.623T>G (p.Phe208Cys) | |
19 | g.12655800A>G | CA404244903 | MAN2B1 | c.1724T>C (p.Phe575Ser) c.1721T>C (p.Phe574Ser) n.330T>C n.2314T>C c.317T>C n.321T>C c.88T>C c.1727T>C (p.Phe576Ser) c.623T>C (p.Phe208Ser) | |
19 | g.12655800A>T | CA404244904 | MAN2B1 | c.1724T>A (p.Phe575Tyr) c.1721T>A (p.Phe574Tyr) n.330T>A n.2314T>A c.317T>A n.321T>A c.88T>A c.1727T>A (p.Phe576Tyr) c.623T>A (p.Phe208Tyr) | |
19 | g.12655801A>C | CA404244906 | MAN2B1 | c.1723T>G (p.Phe575Val) c.1720T>G (p.Phe574Val) n.329T>G n.2313T>G c.316T>G n.320T>G c.87T>G c.1726T>G (p.Phe576Val) c.622T>G (p.Phe208Val) | |
19 | g.12655801A>G | CA404244907 | MAN2B1 | c.1723T>C (p.Phe575Leu) c.1720T>C (p.Phe574Leu) n.329T>C n.2313T>C c.316T>C n.320T>C c.87T>C c.1726T>C (p.Phe576Leu) c.622T>C (p.Phe208Leu) | |
19 | g.12655801A>T | CA404244905 | MAN2B1 | c.1723T>A (p.Phe575Ile) c.1720T>A (p.Phe574Ile) n.329T>A n.2313T>A c.316T>A n.320T>A c.87T>A c.1726T>A (p.Phe576Ile) c.622T>A (p.Phe208Ile) | |
19 | g.12655802G>A | CA505624734 | MAN2B1 | c.1722C>T (p.Gly574=) c.1719C>T (p.Gly573=) n.328C>T n.2312C>T c.315C>T n.319C>T c.86C>T c.1725C>T (p.Gly575=) c.621C>T (p.Gly207=) | ClinVar dbSNP gnomAD v4 |
19 | g.12655802G>C | CA505624733 | MAN2B1 | c.1722C>G (p.Gly574=) c.1719C>G (p.Gly573=) n.328C>G n.2312C>G c.315C>G n.319C>G c.86C>G c.1725C>G (p.Gly575=) c.621C>G (p.Gly207=) | |
19 | g.12655802G= | CA2323502844 | MAN2B1 | c.1722C= (p.Gly574=) c.1719C= (p.Gly573=) n.328C= n.2312C= c.315C= n.319C= c.86C= c.1725C= (p.Gly575=) c.621C= (p.Gly207=) | |
19 | g.12655802G>T | CA505624732 | MAN2B1 | c.1722C>A (p.Gly574=) c.1719C>A (p.Gly573=) n.328C>A n.2312C>A c.315C>A n.319C>A c.86C>A c.1725C>A (p.Gly575=) c.621C>A (p.Gly207=) | |
19 | g.12655803C>A | CA404244908 | MAN2B1 | c.1721G>T (p.Gly574Val) c.1718G>T (p.Gly573Val) n.327G>T n.2311G>T c.314G>T n.318G>T c.85G>T c.1724G>T (p.Gly575Val) c.620G>T (p.Gly207Val) | |
19 | g.12655803C= | CA2323502845 | MAN2B1 | c.1721G= (p.Gly574=) c.1718G= (p.Gly573=) n.327G= n.2311G= c.314G= n.318G= c.85G= c.1724G= (p.Gly575=) c.620G= (p.Gly207=) | |
19 | g.12655803C>G | CA404244909 | MAN2B1 | c.1721G>C (p.Gly574Ala) c.1718G>C (p.Gly573Ala) n.327G>C n.2311G>C c.314G>C n.318G>C c.85G>C c.1724G>C (p.Gly575Ala) c.620G>C (p.Gly207Ala) | gnomAD v4 |
19 | g.12655803C>T | CA305469590 | MAN2B1 | c.1721G>A (p.Gly574Asp) c.1718G>A (p.Gly573Asp) n.327G>A n.2311G>A c.314G>A n.318G>A c.85G>A c.1724G>A (p.Gly575Asp) c.620G>A (p.Gly207Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655804C>A | CA404244910 | MAN2B1 | c.1720G>T (p.Gly574Cys) c.1717G>T (p.Gly573Cys) n.326G>T n.2310G>T c.313G>T n.317G>T c.84G>T c.1723G>T (p.Gly575Cys) c.619G>T (p.Gly207Cys) | |
19 | g.12655804C>G | CA404244911 | MAN2B1 | c.1720G>C (p.Gly574Arg) c.1717G>C (p.Gly573Arg) n.326G>C n.2310G>C c.313G>C n.317G>C c.84G>C c.1723G>C (p.Gly575Arg) c.619G>C (p.Gly207Arg) | |
19 | g.12655804C>T | CA404244912 | MAN2B1 | c.1720G>A (p.Gly574Ser) c.1717G>A (p.Gly573Ser) n.326G>A n.2310G>A c.313G>A n.317G>A c.84G>A c.1723G>A (p.Gly575Ser) c.619G>A (p.Gly207Ser) | |
19 | g.12655805C>A | CA505624735 | MAN2B1 | c.1719G>T (p.Leu573=) c.1716G>T (p.Leu572=) n.325G>T n.2309G>T c.312G>T n.316G>T c.83G>T c.1722G>T (p.Leu574=) c.618G>T (p.Leu206=) | ClinVar dbSNP gnomAD v4 |
19 | g.12655805C= | CA2323502846 | MAN2B1 | c.1719G= (p.Leu573=) c.1716G= (p.Leu572=) n.325G= n.2309G= c.312G= n.316G= c.83G= c.1722G= (p.Leu574=) c.618G= (p.Leu206=) | |
19 | g.12655805C>G | CA305469594 | MAN2B1 | c.1719G>C (p.Leu573=) c.1716G>C (p.Leu572=) n.325G>C n.2309G>C c.312G>C n.316G>C c.83G>C c.1722G>C (p.Leu574=) c.618G>C (p.Leu206=) | dbSNP gnomAD v4 |
19 | g.12655805C>T | CA505624736 | MAN2B1 | c.1719G>A (p.Leu573=) c.1716G>A (p.Leu572=) n.325G>A n.2309G>A c.312G>A n.316G>A c.83G>A c.1722G>A (p.Leu574=) c.618G>A (p.Leu206=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12655806A= | CA2323502847 | MAN2B1 | c.1718T= (p.Leu573=) c.1715T= (p.Leu572=) n.324T= n.2308T= c.311T= n.315T= c.82T= c.1721T= (p.Leu574=) c.617T= (p.Leu206=) | |
19 | g.12655806A>C | CA404244913 | MAN2B1 | c.1718T>G (p.Leu573Arg) c.1715T>G (p.Leu572Arg) n.324T>G n.2308T>G c.311T>G n.315T>G c.82T>G c.1721T>G (p.Leu574Arg) c.617T>G (p.Leu206Arg) | dbSNP |
19 | g.12655806A>G | CA404244914 | MAN2B1 | c.1718T>C (p.Leu573Pro) c.1715T>C (p.Leu572Pro) n.324T>C n.2308T>C c.311T>C n.315T>C c.82T>C c.1721T>C (p.Leu574Pro) c.617T>C (p.Leu206Pro) | |
19 | g.12655806A>T | CA404244915 | MAN2B1 | c.1718T>A (p.Leu573Gln) c.1715T>A (p.Leu572Gln) n.324T>A n.2308T>A c.311T>A n.315T>A c.82T>A c.1721T>A (p.Leu574Gln) c.617T>A (p.Leu206Gln) | |
19 | g.12655807G>A | CA505624737 | MAN2B1 | c.1717C>T (p.Leu573=) c.1714C>T (p.Leu572=) n.323C>T n.2307C>T c.310C>T n.314C>T c.81C>T c.1720C>T (p.Leu574=) c.616C>T (p.Leu206=) | ClinVar dbSNP |
19 | g.12655807G>C | CA404244916 | MAN2B1 | c.1717C>G (p.Leu573Val) c.1714C>G (p.Leu572Val) n.323C>G n.2307C>G c.310C>G n.314C>G c.81C>G c.1720C>G (p.Leu574Val) c.616C>G (p.Leu206Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655807G= | CA2323502848 | MAN2B1 | c.1717C= (p.Leu573=) c.1714C= (p.Leu572=) n.323C= n.2307C= c.310C= n.314C= c.81C= c.1720C= (p.Leu574=) c.616C= (p.Leu206=) | |
19 | g.12655807G>T | CA404244917 | MAN2B1 | c.1717C>A (p.Leu573Met) c.1714C>A (p.Leu572Met) n.323C>A n.2307C>A c.310C>A n.314C>A c.81C>A c.1720C>A (p.Leu574Met) c.616C>A (p.Leu206Met) | |
19 | g.12655808G>A | CA505624738 | MAN2B1 | c.1716C>T (p.Ala572=) c.1713C>T (p.Ala571=) n.322C>T n.2306C>T c.309C>T n.313C>T c.80C>T c.1719C>T (p.Ala573=) c.615C>T (p.Ala205=) | ClinVar dbSNP |
19 | g.12655808G>C | CA505624739 | MAN2B1 | c.1716C>G (p.Ala572=) c.1713C>G (p.Ala571=) n.322C>G n.2306C>G c.309C>G n.313C>G c.80C>G c.1719C>G (p.Ala573=) c.615C>G (p.Ala205=) | |
19 | g.12655808G= | CA2323502849 | MAN2B1 | c.1716C= (p.Ala572=) c.1713C= (p.Ala571=) n.322C= n.2306C= c.309C= n.313C= c.80C= c.1719C= (p.Ala573=) c.615C= (p.Ala205=) | |
19 | g.12655808G>T | CA505624740 | MAN2B1 | c.1716C>A (p.Ala572=) c.1713C>A (p.Ala571=) n.322C>A n.2306C>A c.309C>A n.313C>A c.80C>A c.1719C>A (p.Ala573=) c.615C>A (p.Ala205=) | |
19 | g.12655809G>A | CA404244919 | MAN2B1 | c.1715C>T (p.Ala572Val) c.1712C>T (p.Ala571Val) n.321C>T n.2305C>T c.308C>T n.312C>T c.79C>T c.1718C>T (p.Ala573Val) c.614C>T (p.Ala205Val) | dbSNP gnomAD v4 |
19 | g.12655809G>C | CA404244920 | MAN2B1 | c.1715C>G (p.Ala572Gly) c.1712C>G (p.Ala571Gly) n.321C>G n.2305C>G c.308C>G n.312C>G c.79C>G c.1718C>G (p.Ala573Gly) c.614C>G (p.Ala205Gly) | |
19 | g.12655809G= | CA2323502850 | MAN2B1 | c.1715C= (p.Ala572=) c.1712C= (p.Ala571=) n.321C= n.2305C= c.308C= n.312C= c.79C= c.1718C= (p.Ala573=) c.614C= (p.Ala205=) | |
19 | g.12655809G>T | CA404244918 | MAN2B1 | c.1715C>A (p.Ala572Asp) c.1712C>A (p.Ala571Asp) n.321C>A n.2305C>A c.308C>A n.312C>A c.79C>A c.1718C>A (p.Ala573Asp) c.614C>A (p.Ala205Asp) | |
19 | g.12655810C>A | CA9226337 | MAN2B1 | c.1714G>T (p.Ala572Ser) c.1711G>T (p.Ala571Ser) n.320G>T n.2304G>T c.307G>T n.311G>T c.78G>T c.1717G>T (p.Ala573Ser) c.613G>T (p.Ala205Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655810C= | CA2323502851 | MAN2B1 | c.1714G= (p.Ala572=) c.1711G= (p.Ala571=) n.320G= n.2304G= c.307G= n.311G= c.78G= c.1717G= (p.Ala573=) c.613G= (p.Ala205=) | |
19 | g.12655810C>G | CA404244921 | MAN2B1 | c.1714G>C (p.Ala572Pro) c.1711G>C (p.Ala571Pro) n.320G>C n.2304G>C c.307G>C n.311G>C c.78G>C c.1717G>C (p.Ala573Pro) c.613G>C (p.Ala205Pro) | |
19 | g.12655810C>T | CA9226338 | MAN2B1 | c.1714G>A (p.Ala572Thr) c.1711G>A (p.Ala571Thr) n.320G>A n.2304G>A c.307G>A n.311G>A c.78G>A c.1717G>A (p.Ala573Thr) c.613G>A (p.Ala205Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12655811G>A | CA9226339 | MAN2B1 | c.1713C>T (p.Pro571=) c.1710C>T (p.Pro570=) n.319C>T n.2303C>T c.306C>T n.310C>T c.77C>T c.1716C>T (p.Pro572=) c.612C>T (p.Pro204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655811G>C | CA505624741 | MAN2B1 | c.1713C>G (p.Pro571=) c.1710C>G (p.Pro570=) n.319C>G n.2303C>G c.306C>G n.310C>G c.77C>G c.1716C>G (p.Pro572=) c.612C>G (p.Pro204=) | gnomAD v4 |
19 | g.12655811G= | CA2323502852 | MAN2B1 | c.1713C= (p.Pro571=) c.1710C= (p.Pro570=) n.319C= n.2303C= c.306C= n.310C= c.77C= c.1716C= (p.Pro572=) c.612C= (p.Pro204=) | |
19 | g.12655811G>T | CA505624742 | MAN2B1 | c.1713C>A (p.Pro571=) c.1710C>A (p.Pro570=) n.319C>A n.2303C>A c.306C>A n.310C>A c.77C>A c.1716C>A (p.Pro572=) c.612C>A (p.Pro204=) | |
19 | g.12655812G>A | CA404244924 | MAN2B1 | c.1712C>T (p.Pro571Leu) c.1709C>T (p.Pro570Leu) n.318C>T n.2302C>T c.305C>T n.309C>T c.76C>T c.1715C>T (p.Pro572Leu) c.611C>T (p.Pro204Leu) | |
19 | g.12655812G>C | CA404244923 | MAN2B1 | c.1712C>G (p.Pro571Arg) c.1709C>G (p.Pro570Arg) n.318C>G n.2302C>G c.305C>G n.309C>G c.76C>G c.1715C>G (p.Pro572Arg) c.611C>G (p.Pro204Arg) | |
19 | g.12655812G>T | CA404244922 | MAN2B1 | c.1712C>A (p.Pro571His) c.1709C>A (p.Pro570His) n.318C>A n.2302C>A c.305C>A n.309C>A c.76C>A c.1715C>A (p.Pro572His) c.611C>A (p.Pro204His) | ClinVar |
19 | g.12655813G>A | CA404244925 | MAN2B1 | c.1711C>T (p.Pro571Ser) c.1708C>T (p.Pro570Ser) n.317C>T n.2301C>T c.304C>T n.308C>T c.75C>T c.1714C>T (p.Pro572Ser) c.610C>T (p.Pro204Ser) | gnomAD v4 |
19 | g.12655813G>C | CA404244926 | MAN2B1 | c.1711C>G (p.Pro571Ala) c.1708C>G (p.Pro570Ala) n.317C>G n.2301C>G c.304C>G n.308C>G c.75C>G c.1714C>G (p.Pro572Ala) c.610C>G (p.Pro204Ala) | |
19 | g.12655813G>T | CA404244927 | MAN2B1 | c.1711C>A (p.Pro571Thr) c.1708C>A (p.Pro570Thr) n.317C>A n.2301C>A c.304C>A n.308C>A c.75C>A c.1714C>A (p.Pro572Thr) c.610C>A (p.Pro204Thr) | |
19 | g.12655814C>A | CA505624743 | MAN2B1 | c.1710G>T (p.Leu570=) c.1707G>T (p.Leu569=) n.316G>T n.2300G>T c.303G>T n.307G>T c.74G>T c.1713G>T (p.Leu571=) c.609G>T (p.Leu203=) | |
19 | g.12655814C= | CA2323502853 | MAN2B1 | c.1710G= (p.Leu570=) c.1707G= (p.Leu569=) n.316G= n.2300G= c.303G= n.307G= c.74G= c.1713G= (p.Leu571=) c.609G= (p.Leu203=) | |
19 | g.12655814C>G | CA505624744 | MAN2B1 | c.1710G>C (p.Leu570=) c.1707G>C (p.Leu569=) n.316G>C n.2300G>C c.303G>C n.307G>C c.74G>C c.1713G>C (p.Leu571=) c.609G>C (p.Leu203=) | |
19 | g.12655814C>T | CA505624745 | MAN2B1 | c.1710G>A (p.Leu570=) c.1707G>A (p.Leu569=) n.316G>A n.2300G>A c.303G>A n.307G>A c.74G>A c.1713G>A (p.Leu571=) c.609G>A (p.Leu203=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655815A>C | CA404244928 | MAN2B1 | c.1709T>G (p.Leu570Arg) c.1706T>G (p.Leu569Arg) n.315T>G n.2299T>G c.302T>G n.306T>G c.73T>G c.1712T>G (p.Leu571Arg) c.608T>G (p.Leu203Arg) | |
19 | g.12655815A>G | CA404244929 | MAN2B1 | c.1709T>C (p.Leu570Pro) c.1706T>C (p.Leu569Pro) n.315T>C n.2299T>C c.302T>C n.306T>C c.73T>C c.1712T>C (p.Leu571Pro) c.608T>C (p.Leu203Pro) | |
19 | g.12655815A>T | CA404244930 | MAN2B1 | c.1709T>A (p.Leu570Gln) c.1706T>A (p.Leu569Gln) n.315T>A n.2299T>A c.302T>A n.306T>A c.73T>A c.1712T>A (p.Leu571Gln) c.608T>A (p.Leu203Gln) | |
19 | g.12655815_12655817delinsAGT | CA2323502854 | MAN2B1 | c.1707_1709delinsACT (p.Ser569=) c.1704_1706delinsACT (p.Ser568=) n.313_315delinsACT n.2297_2299delinsACT c.300_302delinsACT n.304_306delinsACT c.71_73delinsACT c.1710_1712delinsACT (p.Ser570=) c.606_608delinsACT (p.Ser202=) | |
19 | g.12655816G>A | CA9226340 | MAN2B1 | c.1708C>T (p.Leu570=) c.1705C>T (p.Leu569=) n.314C>T n.2298C>T c.301C>T n.305C>T c.72C>T c.1711C>T (p.Leu571=) c.607C>T (p.Leu203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12655816G>C | CA404244932 | MAN2B1 | c.1708C>G (p.Leu570Val) c.1705C>G (p.Leu569Val) n.314C>G n.2298C>G c.301C>G n.305C>G c.72C>G c.1711C>G (p.Leu571Val) c.607C>G (p.Leu203Val) | |
19 | g.12655816G= | CA2323502855 | MAN2B1 | c.1708C= (p.Leu570=) c.1705C= (p.Leu569=) n.314C= n.2298C= c.301C= n.305C= c.72C= c.1711C= (p.Leu571=) c.607C= (p.Leu203=) | |
19 | g.12655816G>T | CA404244931 | MAN2B1 | c.1708C>A (p.Leu570Met) c.1705C>A (p.Leu569Met) n.314C>A n.2298C>A c.301C>A n.305C>A c.72C>A c.1711C>A (p.Leu571Met) c.607C>A (p.Leu203Met) | |
19 | g.12655817_12655818del | CA221080 | MAN2B1 | c.1707_1708del (p.Leu570AlafsTer?) c.1704_1705del (p.Leu569AlafsTer?) n.313_314del n.2297_2298del c.300_301del n.304_305del c.71_72del c.1710_1711del (p.Leu571AlafsTer?) c.606_607del (p.Leu203AlafsTer?) | dbSNP |
19 | g.12655817T>A | CA505624746 | MAN2B1 | c.1707A>T (p.Ser569=) c.1704A>T (p.Ser568=) n.313A>T n.2297A>T c.300A>T n.304A>T c.71A>T c.1710A>T (p.Ser570=) c.606A>T (p.Ser202=) | |
19 | g.12655817T>C | CA505624747 | MAN2B1 | c.1707A>G (p.Ser569=) c.1704A>G (p.Ser568=) n.313A>G n.2297A>G c.300A>G n.304A>G c.71A>G c.1710A>G (p.Ser570=) c.606A>G (p.Ser202=) | ClinVar dbSNP |
19 | g.12655817T>G | CA505624748 | MAN2B1 | c.1707A>C (p.Ser569=) c.1704A>C (p.Ser568=) n.313A>C n.2297A>C c.300A>C n.304A>C c.71A>C c.1710A>C (p.Ser570=) c.606A>C (p.Ser202=) | |
19 | g.12655817T= | CA2323502856 | MAN2B1 | c.1707A= (p.Ser569=) c.1704A= (p.Ser568=) n.313A= n.2297A= c.300A= n.304A= c.71A= c.1710A= (p.Ser570=) c.606A= (p.Ser202=) | |
19 | g.12655818G>A | CA404244935 | MAN2B1 | c.1706C>T (p.Ser569Leu) c.1703C>T (p.Ser568Leu) n.312C>T n.2296C>T c.299C>T n.303C>T c.70C>T c.1709C>T (p.Ser570Leu) c.605C>T (p.Ser202Leu) | |
19 | g.12655818G>C | CA404244933 | MAN2B1 | c.1706C>G (p.Ser569Ter) c.1703C>G (p.Ser568Ter) n.312C>G n.2296C>G c.299C>G n.303C>G c.70C>G c.1709C>G (p.Ser570Ter) c.605C>G (p.Ser202Ter) | COSMIC |
19 | g.12655818G>T | CA404244934 | MAN2B1 | c.1706C>A (p.Ser569Ter) c.1703C>A (p.Ser568Ter) n.312C>A n.2296C>A c.299C>A n.303C>A c.70C>A c.1709C>A (p.Ser570Ter) c.605C>A (p.Ser202Ter) | |
19 | g.12655819A= | CA2323502857 | MAN2B1 | c.1705T= (p.Ser569=) c.1702T= (p.Ser568=) n.311T= n.2295T= c.298T= n.302T= c.69T= c.1708T= (p.Ser570=) c.604T= (p.Ser202=) | |
19 | g.12655819A>C | CA404244936 | MAN2B1 | c.1705T>G (p.Ser569Ala) c.1702T>G (p.Ser568Ala) n.311T>G n.2295T>G c.298T>G n.302T>G c.69T>G c.1708T>G (p.Ser570Ala) c.604T>G (p.Ser202Ala) | |
19 | g.12655819A>G | CA404244937 | MAN2B1 | c.1705T>C (p.Ser569Pro) c.1702T>C (p.Ser568Pro) n.311T>C n.2295T>C c.298T>C n.302T>C c.69T>C c.1708T>C (p.Ser570Pro) c.604T>C (p.Ser202Pro) | dbSNP gnomAD v2 |
19 | g.12655819A>T | CA404244938 | MAN2B1 | c.1705T>A (p.Ser569Thr) c.1702T>A (p.Ser568Thr) n.311T>A n.2295T>A c.298T>A n.302T>A c.69T>A c.1708T>A (p.Ser570Thr) c.604T>A (p.Ser202Thr) | |
19 | g.12655820G>A | CA9226341 | MAN2B1 | c.1704C>T (p.Ala568=) c.1701C>T (p.Ala567=) n.310C>T n.2294C>T c.297C>T n.301C>T c.68C>T c.1707C>T (p.Ala569=) c.603C>T (p.Ala201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12655820G>C | CA505624749 | MAN2B1 | c.1704C>G (p.Ala568=) c.1701C>G (p.Ala567=) n.310C>G n.2294C>G c.297C>G n.301C>G c.68C>G c.1707C>G (p.Ala569=) c.603C>G (p.Ala201=) | gnomAD v4 |
19 | g.12655820G= | CA2323502858 | MAN2B1 | c.1704C= (p.Ala568=) c.1701C= (p.Ala567=) n.310C= n.2294C= c.297C= n.301C= c.68C= c.1707C= (p.Ala569=) c.603C= (p.Ala201=) | |
19 | g.12655820G>T | CA505624750 | MAN2B1 | c.1704C>A (p.Ala568=) c.1701C>A (p.Ala567=) n.310C>A n.2294C>A c.297C>A n.301C>A c.68C>A c.1707C>A (p.Ala569=) c.603C>A (p.Ala201=) | |
19 | g.12655821G>A | CA404244939 | MAN2B1 | c.1703C>T (p.Ala568Val) c.1700C>T (p.Ala567Val) n.309C>T n.2293C>T c.296C>T n.300C>T c.67C>T c.1706C>T (p.Ala569Val) c.602C>T (p.Ala201Val) | gnomAD v4 |
19 | g.12655821G>C | CA404244940 | MAN2B1 | c.1703C>G (p.Ala568Gly) c.1700C>G (p.Ala567Gly) n.309C>G n.2293C>G c.296C>G n.300C>G c.67C>G c.1706C>G (p.Ala569Gly) c.602C>G (p.Ala201Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12655821G= | CA2323502859 | MAN2B1 | c.1703C= (p.Ala568=) c.1700C= (p.Ala567=) n.309C= n.2293C= c.296C= n.300C= c.67C= c.1706C= (p.Ala569=) c.602C= (p.Ala201=) | |
19 | g.12655821G>T | CA404244941 | MAN2B1 | c.1703C>A (p.Ala568Asp) c.1700C>A (p.Ala567Asp) n.309C>A n.2293C>A c.296C>A n.300C>A c.67C>A c.1706C>A (p.Ala569Asp) c.602C>A (p.Ala201Asp) | |
19 | g.12655822C>A | CA404244942 | MAN2B1 | c.1702G>T (p.Ala568Ser) c.1699G>T (p.Ala567Ser) n.308G>T n.2292G>T c.295G>T n.299G>T c.66G>T c.1705G>T (p.Ala569Ser) c.601G>T (p.Ala201Ser) | |
19 | g.12655822C= | CA2323502860 | MAN2B1 | c.1702G= (p.Ala568=) c.1699G= (p.Ala567=) n.308G= n.2292G= c.295G= n.299G= c.66G= c.1705G= (p.Ala569=) c.601G= (p.Ala201=) | |
19 | g.12655822C>G | CA404244943 | MAN2B1 | c.1702G>C (p.Ala568Pro) c.1699G>C (p.Ala567Pro) n.308G>C n.2292G>C c.295G>C n.299G>C c.66G>C c.1705G>C (p.Ala569Pro) c.601G>C (p.Ala201Pro) | |
19 | g.12655822C>T | CA404244944 | MAN2B1 | c.1702G>A (p.Ala568Thr) c.1699G>A (p.Ala567Thr) n.308G>A n.2292G>A c.295G>A n.299G>A c.66G>A c.1705G>A (p.Ala569Thr) c.601G>A (p.Ala201Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655823T>A | CA505624751 | MAN2B1 | c.1701A>T (p.Ser567=) c.1698A>T (p.Ser566=) n.307A>T n.2291A>T c.294A>T n.298A>T c.65A>T c.1704A>T (p.Ser568=) c.600A>T (p.Ser200=) | |
19 | g.12655823T>C | CA505624753 | MAN2B1 | c.1701A>G (p.Ser567=) c.1698A>G (p.Ser566=) n.307A>G n.2291A>G c.294A>G n.298A>G c.65A>G c.1704A>G (p.Ser568=) c.600A>G (p.Ser200=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12655823T>G | CA505624752 | MAN2B1 | c.1701A>C (p.Ser567=) c.1698A>C (p.Ser566=) n.307A>C n.2291A>C c.294A>C n.298A>C c.65A>C c.1704A>C (p.Ser568=) c.600A>C (p.Ser200=) | |
19 | g.12655823T= | CA2323502861 | MAN2B1 | c.1701A= (p.Ser567=) c.1698A= (p.Ser566=) n.307A= n.2291A= c.294A= n.298A= c.65A= c.1704A= (p.Ser568=) c.600A= (p.Ser200=) | |
19 | g.12655824G>A | CA404244947 | MAN2B1 | c.1700C>T (p.Ser567Leu) c.1697C>T (p.Ser566Leu) n.306C>T n.2290C>T c.293C>T n.297C>T c.64C>T c.1703C>T (p.Ser568Leu) c.599C>T (p.Ser200Leu) | COSMIC |
19 | g.12655824G>C | CA404244945 | MAN2B1 | c.1700C>G (p.Ser567Ter) c.1697C>G (p.Ser566Ter) n.306C>G n.2290C>G c.293C>G n.297C>G c.64C>G c.1703C>G (p.Ser568Ter) c.599C>G (p.Ser200Ter) | |
19 | g.12655824G>T | CA404244946 | MAN2B1 | c.1700C>A (p.Ser567Ter) c.1697C>A (p.Ser566Ter) n.306C>A n.2290C>A c.293C>A n.297C>A c.64C>A c.1703C>A (p.Ser568Ter) c.599C>A (p.Ser200Ter) | |
19 | g.12655825A>C | CA404244948 | MAN2B1 | c.1699T>G (p.Ser567Ala) c.1696T>G (p.Ser566Ala) n.305T>G n.2289T>G c.292T>G n.296T>G c.63T>G c.1702T>G (p.Ser568Ala) c.598T>G (p.Ser200Ala) | |
19 | g.12655825A>G | CA404244949 | MAN2B1 | c.1699T>C (p.Ser567Pro) c.1696T>C (p.Ser566Pro) n.305T>C n.2289T>C c.292T>C n.296T>C c.63T>C c.1702T>C (p.Ser568Pro) c.598T>C (p.Ser200Pro) | |
19 | g.12655825A>T | CA404244950 | MAN2B1 | c.1699T>A (p.Ser567Thr) c.1696T>A (p.Ser566Thr) n.305T>A n.2289T>A c.292T>A n.296T>A c.63T>A c.1702T>A (p.Ser568Thr) c.598T>A (p.Ser200Thr) | |
19 | g.12655826G>A | CA505624754 | MAN2B1 | c.1698C>T (p.Phe566=) c.1695C>T (p.Phe565=) n.304C>T n.2288C>T c.291C>T n.295C>T c.62C>T c.1701C>T (p.Phe567=) c.597C>T (p.Phe199=) | |
19 | g.12655826G>C | CA404244951 | MAN2B1 | c.1698C>G (p.Phe566Leu) c.1695C>G (p.Phe565Leu) n.304C>G n.2288C>G c.291C>G n.295C>G c.62C>G c.1701C>G (p.Phe567Leu) c.597C>G (p.Phe199Leu) | gnomAD v4 |
19 | g.12655826G>T | CA404244952 | MAN2B1 | c.1698C>A (p.Phe566Leu) c.1695C>A (p.Phe565Leu) n.304C>A n.2288C>A c.291C>A n.295C>A c.62C>A c.1701C>A (p.Phe567Leu) c.597C>A (p.Phe199Leu) | |
19 | g.12655827A>C | CA404244953 | MAN2B1 | c.1697T>G (p.Phe566Cys) c.1694T>G (p.Phe565Cys) n.303T>G n.2287T>G c.290T>G n.294T>G c.61T>G c.1700T>G (p.Phe567Cys) c.596T>G (p.Phe199Cys) | |
19 | g.12655827A>G | CA404244954 | MAN2B1 | c.1697T>C (p.Phe566Ser) c.1694T>C (p.Phe565Ser) n.303T>C n.2287T>C c.290T>C n.294T>C c.61T>C c.1700T>C (p.Phe567Ser) c.596T>C (p.Phe199Ser) | |
19 | g.12655827A>T | CA404244955 | MAN2B1 | c.1697T>A (p.Phe566Tyr) c.1694T>A (p.Phe565Tyr) n.303T>A n.2287T>A c.290T>A n.294T>A c.61T>A c.1700T>A (p.Phe567Tyr) c.596T>A (p.Phe199Tyr) | |
19 | g.12655828A>C | CA404244956 | MAN2B1 | c.1696T>G (p.Phe566Val) c.1693T>G (p.Phe565Val) n.302T>G n.2286T>G c.289T>G n.293T>G c.60T>G c.1699T>G (p.Phe567Val) c.595T>G (p.Phe199Val) | |
19 | g.12655828A>G | CA404244957 | MAN2B1 | c.1696T>C (p.Phe566Leu) c.1693T>C (p.Phe565Leu) n.302T>C n.2286T>C c.289T>C n.293T>C c.60T>C c.1699T>C (p.Phe567Leu) c.595T>C (p.Phe199Leu) | |
19 | g.12655828A>T | CA404244958 | MAN2B1 | c.1696T>A (p.Phe566Ile) c.1693T>A (p.Phe565Ile) n.302T>A n.2286T>A c.289T>A n.293T>A c.60T>A c.1699T>A (p.Phe567Ile) c.595T>A (p.Phe199Ile) | |
19 | g.12655829C>A | CA505624755 | MAN2B1 | c.1695G>T (p.Leu565=) c.1692G>T (p.Leu564=) n.301G>T n.2285G>T c.288G>T n.292G>T c.59G>T c.1698G>T (p.Leu566=) c.594G>T (p.Leu198=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12655829C= | CA2323502862 | MAN2B1 | c.1695G= (p.Leu565=) c.1692G= (p.Leu564=) n.301G= n.2285G= c.288G= n.292G= c.59G= c.1698G= (p.Leu566=) c.594G= (p.Leu198=) | |
19 | g.12655829C>G | CA505624756 | MAN2B1 | c.1695G>C (p.Leu565=) c.1692G>C (p.Leu564=) n.301G>C n.2285G>C c.288G>C n.292G>C c.59G>C c.1698G>C (p.Leu566=) c.594G>C (p.Leu198=) | ClinVar |
19 | g.12655829C>T | CA9226342 | MAN2B1 | c.1695G>A (p.Leu565=) c.1692G>A (p.Leu564=) n.301G>A n.2285G>A c.288G>A n.292G>A c.59G>A c.1698G>A (p.Leu566=) c.594G>A (p.Leu198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655830A= | CA2323502863 | MAN2B1 | c.1694T= (p.Leu565=) c.1691T= (p.Leu564=) n.300T= n.2284T= c.287T= n.291T= c.58T= c.1697T= (p.Leu566=) c.593T= (p.Leu198=) | |
19 | g.12655830A>C | CA404244960 | MAN2B1 | c.1694T>G (p.Leu565Arg) c.1691T>G (p.Leu564Arg) n.300T>G n.2284T>G c.287T>G n.291T>G c.58T>G c.1697T>G (p.Leu566Arg) c.593T>G (p.Leu198Arg) | gnomAD v4 |
19 | g.12655830A>G | CA350998 | MAN2B1 | c.1694T>C (p.Leu565Pro) c.1691T>C (p.Leu564Pro) n.300T>C n.2284T>C c.287T>C n.291T>C c.58T>C c.1697T>C (p.Leu566Pro) c.593T>C (p.Leu198Pro) | ClinVar dbSNP |
19 | g.12655830A>T | CA404244959 | MAN2B1 | c.1694T>A (p.Leu565Gln) c.1691T>A (p.Leu564Gln) n.300T>A n.2284T>A c.287T>A n.291T>A c.58T>A c.1697T>A (p.Leu566Gln) c.593T>A (p.Leu198Gln) | |
19 | g.12655831G>A | CA505624757 | MAN2B1 | c.1693C>T (p.Leu565=) c.1690C>T (p.Leu564=) n.299C>T n.2283C>T c.286C>T n.290C>T c.57C>T c.1696C>T (p.Leu566=) c.592C>T (p.Leu198=) | |
19 | g.12655831G>C | CA404244965 | MAN2B1 | c.1693C>G (p.Leu565Val) c.1690C>G (p.Leu564Val) n.299C>G n.2283C>G c.286C>G n.290C>G c.57C>G c.1696C>G (p.Leu566Val) c.592C>G (p.Leu198Val) | |
19 | g.12655831G= | CA2323502864 | MAN2B1 | c.1693C= (p.Leu565=) c.1690C= (p.Leu564=) n.299C= n.2283C= c.286C= n.290C= c.57C= c.1696C= (p.Leu566=) c.592C= (p.Leu198=) | |
19 | g.12655831G>T | CA9226343 | MAN2B1 | c.1693C>A (p.Leu565Met) c.1690C>A (p.Leu564Met) n.299C>A n.2283C>A c.286C>A n.290C>A c.57C>A c.1696C>A (p.Leu566Met) c.592C>A (p.Leu198Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12655832C>A | CA505624758 | MAN2B1 | c.1692G>T (p.Leu564=) c.1689G>T (p.Leu563=) n.298G>T n.2282G>T c.285G>T n.289G>T c.56G>T c.1695G>T (p.Leu565=) c.591G>T (p.Leu197=) | |
19 | g.12655832C>G | CA505624759 | MAN2B1 | c.1692G>C (p.Leu564=) c.1689G>C (p.Leu563=) n.298G>C n.2282G>C c.285G>C n.289G>C c.56G>C c.1695G>C (p.Leu565=) c.591G>C (p.Leu197=) | |
19 | g.12655832C>T | CA505624760 | MAN2B1 | c.1692G>A (p.Leu564=) c.1689G>A (p.Leu563=) n.298G>A n.2282G>A c.285G>A n.289G>A c.56G>A c.1695G>A (p.Leu565=) c.591G>A (p.Leu197=) | |
19 | g.12655833A>C | CA404244967 | MAN2B1 | c.1691T>G (p.Leu564Arg) c.1688T>G (p.Leu563Arg) n.297T>G n.2281T>G c.284T>G n.288T>G c.55T>G c.1694T>G (p.Leu565Arg) c.590T>G (p.Leu197Arg) | |
19 | g.12655833A>G | CA404244968 | MAN2B1 | c.1691T>C (p.Leu564Pro) c.1688T>C (p.Leu563Pro) n.297T>C n.2281T>C c.284T>C n.288T>C c.55T>C c.1694T>C (p.Leu565Pro) c.590T>C (p.Leu197Pro) | |
19 | g.12655833A>T | CA404244969 | MAN2B1 | c.1691T>A (p.Leu564Gln) c.1688T>A (p.Leu563Gln) n.297T>A n.2281T>A c.284T>A n.288T>A c.55T>A c.1694T>A (p.Leu565Gln) c.590T>A (p.Leu197Gln) | |
19 | g.12655834G>A | CA505624761 | MAN2B1 | c.1690C>T (p.Leu564=) c.1687C>T (p.Leu563=) n.296C>T n.2280C>T c.283C>T n.287C>T c.54C>T c.1693C>T (p.Leu565=) c.589C>T (p.Leu197=) | |
19 | g.12655834G>C | CA404244970 | MAN2B1 | c.1690C>G (p.Leu564Val) c.1687C>G (p.Leu563Val) n.296C>G n.2280C>G c.283C>G n.287C>G c.54C>G c.1693C>G (p.Leu565Val) c.589C>G (p.Leu197Val) | |
19 | g.12655834G>T | CA404244971 | MAN2B1 | c.1690C>A (p.Leu564Met) c.1687C>A (p.Leu563Met) n.296C>A n.2280C>A c.283C>A n.287C>A c.54C>A c.1693C>A (p.Leu565Met) c.589C>A (p.Leu197Met) | COSMIC |
19 | g.12655835C>A | CA404244972 | MAN2B1 | c.1689G>T (p.Glu563Asp) c.1686G>T (p.Glu562Asp) n.295G>T n.2279G>T c.282G>T n.286G>T c.53G>T c.1692G>T (p.Glu564Asp) c.588G>T (p.Glu196Asp) | COSMIC |
19 | g.12655835C>G | CA404244973 | MAN2B1 | c.1689G>C (p.Glu563Asp) c.1686G>C (p.Glu562Asp) n.295G>C n.2279G>C c.282G>C n.286G>C c.53G>C c.1692G>C (p.Glu564Asp) c.588G>C (p.Glu196Asp) | |
19 | g.12655835C>T | CA505624762 | MAN2B1 | c.1689G>A (p.Glu563=) c.1686G>A (p.Glu562=) n.295G>A n.2279G>A c.282G>A n.286G>A c.53G>A c.1692G>A (p.Glu564=) c.588G>A (p.Glu196=) | |
19 | g.12655836T>A | CA404244974 | MAN2B1 | c.1688A>T (p.Glu563Val) c.1685A>T (p.Glu562Val) n.294A>T n.2278A>T c.281A>T n.285A>T c.52A>T c.1691A>T (p.Glu564Val) c.587A>T (p.Glu196Val) | |
19 | g.12655836T>C | CA404244976 | MAN2B1 | c.1688A>G (p.Glu563Gly) c.1685A>G (p.Glu562Gly) n.294A>G n.2278A>G c.281A>G n.285A>G c.52A>G c.1691A>G (p.Glu564Gly) c.587A>G (p.Glu196Gly) | |
19 | g.12655836T>G | CA404244978 | MAN2B1 | c.1688A>C (p.Glu563Ala) c.1685A>C (p.Glu562Ala) n.294A>C n.2278A>C c.281A>C n.285A>C c.52A>C c.1691A>C (p.Glu564Ala) c.587A>C (p.Glu196Ala) | |
19 | g.12655837C>A | CA16041949 | MAN2B1 | c.1687G>T (p.Glu563Ter) c.1684G>T (p.Glu562Ter) n.293G>T n.2277G>T c.280G>T n.284G>T c.51G>T c.1690G>T (p.Glu564Ter) c.586G>T (p.Glu196Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655837C= | CA2323502865 | MAN2B1 | c.1687G= (p.Glu563=) c.1684G= (p.Glu562=) n.293G= n.2277G= c.280G= n.284G= c.51G= c.1690G= (p.Glu564=) c.586G= (p.Glu196=) | |
19 | g.12655837C>G | CA404244981 | MAN2B1 | c.1687G>C (p.Glu563Gln) c.1684G>C (p.Glu562Gln) n.293G>C n.2277G>C c.280G>C n.284G>C c.51G>C c.1690G>C (p.Glu564Gln) c.586G>C (p.Glu196Gln) | |
19 | g.12655837C>T | CA404244982 | MAN2B1 | c.1687G>A (p.Glu563Lys) c.1684G>A (p.Glu562Lys) n.293G>A n.2277G>A c.280G>A n.284G>A c.51G>A c.1690G>A (p.Glu564Lys) c.586G>A (p.Glu196Lys) | |
19 | g.12655838C>A | CA505624763 | MAN2B1 | c.1686G>T (p.Pro562=) c.1683G>T (p.Pro561=) n.292G>T n.2276G>T c.279G>T n.283G>T c.50G>T c.1689G>T (p.Pro563=) c.585G>T (p.Pro195=) | |
19 | g.12655838C= | CA2323502866 | MAN2B1 | c.1686G= (p.Pro562=) c.1683G= (p.Pro561=) n.292G= n.2276G= c.279G= n.283G= c.50G= c.1689G= (p.Pro563=) c.585G= (p.Pro195=) | |
19 | g.12655838C>G | CA505624764 | MAN2B1 | c.1686G>C (p.Pro562=) c.1683G>C (p.Pro561=) n.292G>C n.2276G>C c.279G>C n.283G>C c.50G>C c.1689G>C (p.Pro563=) c.585G>C (p.Pro195=) | |
19 | g.12655838C>T | CA9226344 | MAN2B1 | c.1686G>A (p.Pro562=) c.1683G>A (p.Pro561=) n.292G>A n.2276G>A c.279G>A n.283G>A c.50G>A c.1689G>A (p.Pro563=) c.585G>A (p.Pro195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655839G>A | CA9226345 | MAN2B1 | c.1685C>T (p.Pro562Leu) c.1682C>T (p.Pro561Leu) n.291C>T n.2275C>T c.278C>T n.282C>T c.49C>T c.1688C>T (p.Pro563Leu) c.584C>T (p.Pro195Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655839G>C | CA404244985 | MAN2B1 | c.1685C>G (p.Pro562Arg) c.1682C>G (p.Pro561Arg) n.291C>G n.2275C>G c.278C>G n.282C>G c.49C>G c.1688C>G (p.Pro563Arg) c.584C>G (p.Pro195Arg) | |
19 | g.12655839G= | CA2323502867 | MAN2B1 | c.1685C= (p.Pro562=) c.1682C= (p.Pro561=) n.291C= n.2275C= c.278C= n.282C= c.49C= c.1688C= (p.Pro563=) c.584C= (p.Pro195=) | |
19 | g.12655839G>T | CA9226346 | MAN2B1 | c.1685C>A (p.Pro562Gln) c.1682C>A (p.Pro561Gln) n.291C>A n.2275C>A c.278C>A n.282C>A c.49C>A c.1688C>A (p.Pro563Gln) c.584C>A (p.Pro195Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655840G>A | CA404244988 | MAN2B1 | c.1684C>T (p.Pro562Ser) c.1681C>T (p.Pro561Ser) n.290C>T n.2274C>T c.277C>T n.281C>T c.48C>T c.1687C>T (p.Pro563Ser) c.583C>T (p.Pro195Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.12655840G>C | CA404244990 | MAN2B1 | c.1684C>G (p.Pro562Ala) c.1681C>G (p.Pro561Ala) n.290C>G n.2274C>G c.277C>G n.281C>G c.48C>G c.1687C>G (p.Pro563Ala) c.583C>G (p.Pro195Ala) | gnomAD v4 |
19 | g.12655840G= | CA2323502868 | MAN2B1 | c.1684C= (p.Pro562=) c.1681C= (p.Pro561=) n.290C= n.2274C= c.277C= n.281C= c.48C= c.1687C= (p.Pro563=) c.583C= (p.Pro195=) | |
19 | g.12655840G>T | CA404244991 | MAN2B1 | c.1684C>A (p.Pro562Thr) c.1681C>A (p.Pro561Thr) n.290C>A n.2274C>A c.277C>A n.281C>A c.48C>A c.1687C>A (p.Pro563Thr) c.583C>A (p.Pro195Thr) | |
19 | g.12655841A>C | CA505624765 | MAN2B1 | c.1683T>G (p.Pro561=) c.1680T>G (p.Pro560=) n.289T>G n.2273T>G c.276T>G n.280T>G c.47T>G c.1686T>G (p.Pro562=) c.582T>G (p.Pro194=) | |
19 | g.12655841A>G | CA505624766 | MAN2B1 | c.1683T>C (p.Pro561=) c.1680T>C (p.Pro560=) n.289T>C n.2273T>C c.276T>C n.280T>C c.47T>C c.1686T>C (p.Pro562=) c.582T>C (p.Pro194=) | |
19 | g.12655841A>T | CA505624767 | MAN2B1 | c.1683T>A (p.Pro561=) c.1680T>A (p.Pro560=) n.289T>A n.2273T>A c.276T>A n.280T>A c.47T>A c.1686T>A (p.Pro562=) c.582T>A (p.Pro194=) | |
19 | g.12655842G>A | CA9226348 | MAN2B1 | c.1682C>T (p.Pro561Leu) c.1679C>T (p.Pro560Leu) n.288C>T n.2272C>T c.275C>T n.279C>T c.46C>T c.1685C>T (p.Pro562Leu) c.581C>T (p.Pro194Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655842G>C | CA9226347 | MAN2B1 | c.1682C>G (p.Pro561Arg) c.1679C>G (p.Pro560Arg) n.288C>G n.2272C>G c.275C>G n.279C>G c.46C>G c.1685C>G (p.Pro562Arg) c.581C>G (p.Pro194Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12655842G= | CA2323502869 | MAN2B1 | c.1682C= (p.Pro561=) c.1679C= (p.Pro560=) n.288C= n.2272C= c.275C= n.279C= c.46C= c.1685C= (p.Pro562=) c.581C= (p.Pro194=) | |
19 | g.12655842G>T | CA404244994 | MAN2B1 | c.1682C>A (p.Pro561His) c.1679C>A (p.Pro560His) n.288C>A n.2272C>A c.275C>A n.279C>A c.46C>A c.1685C>A (p.Pro562His) c.581C>A (p.Pro194His) | ClinVar |
19 | g.12655843G>A | CA9226349 | MAN2B1 | c.1681C>T (p.Pro561Ser) c.1678C>T (p.Pro560Ser) n.287C>T n.2271C>T c.274C>T n.278C>T c.45C>T c.1684C>T (p.Pro562Ser) c.580C>T (p.Pro194Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12655843G>C | CA404244996 | MAN2B1 | c.1681C>G (p.Pro561Ala) c.1678C>G (p.Pro560Ala) n.287C>G n.2271C>G c.274C>G n.278C>G c.45C>G c.1684C>G (p.Pro562Ala) c.580C>G (p.Pro194Ala) | gnomAD v4 |
19 | g.12655843G= | CA2323502870 | MAN2B1 | c.1681C= (p.Pro561=) c.1678C= (p.Pro560=) n.287C= n.2271C= c.274C= n.278C= c.45C= c.1684C= (p.Pro562=) c.580C= (p.Pro194=) | |
19 | g.12655843G>T | CA404244999 | MAN2B1 | c.1681C>A (p.Pro561Thr) c.1678C>A (p.Pro560Thr) n.287C>A n.2271C>A c.274C>A n.278C>A c.45C>A c.1684C>A (p.Pro562Thr) c.580C>A (p.Pro194Thr) | |
19 | g.12655844G>A | CA505624768 | MAN2B1 | c.1680C>T (p.His560=) c.1677C>T (p.His559=) n.286C>T n.2270C>T c.273C>T n.277C>T c.44C>T c.1683C>T (p.His561=) c.579C>T (p.His193=) | gnomAD v4 |
19 | g.12655844G>C | CA404245001 | MAN2B1 | c.1680C>G (p.His560Gln) c.1677C>G (p.His559Gln) n.286C>G n.2270C>G c.273C>G n.277C>G c.44C>G c.1683C>G (p.His561Gln) c.579C>G (p.His193Gln) | |
19 | g.12655844G>T | CA404245002 | MAN2B1 | c.1680C>A (p.His560Gln) c.1677C>A (p.His559Gln) n.286C>A n.2270C>A c.273C>A n.277C>A c.44C>A c.1683C>A (p.His561Gln) c.579C>A (p.His193Gln) | |
19 | g.12655845T>A | CA404245006 | MAN2B1 | c.1679A>T (p.His560Leu) c.1676A>T (p.His559Leu) n.285A>T n.2269A>T c.272A>T n.276A>T c.43A>T c.1682A>T (p.His561Leu) c.578A>T (p.His193Leu) | |
19 | g.12655845T>C | CA9226350 | MAN2B1 | c.1679A>G (p.His560Arg) c.1676A>G (p.His559Arg) n.285A>G n.2269A>G c.272A>G n.276A>G c.43A>G c.1682A>G (p.His561Arg) c.578A>G (p.His193Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12655845T>G | CA404245004 | MAN2B1 | c.1679A>C (p.His560Pro) c.1676A>C (p.His559Pro) n.285A>C n.2269A>C c.272A>C n.276A>C c.43A>C c.1682A>C (p.His561Pro) c.578A>C (p.His193Pro) | |
19 | g.12655845T= | CA2323502871 | MAN2B1 | c.1679A= (p.His560=) c.1676A= (p.His559=) n.285A= n.2269A= c.272A= n.276A= c.43A= c.1682A= (p.His561=) c.578A= (p.His193=) |