Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12655740G>ACA404244771MAN2B1c.1784C>T (p.Pro595Leu)
c.1781C>T (p.Pro594Leu)
n.390C>T
n.2374C>T
c.377C>T
n.381C>T
c.148C>T
c.1787C>T (p.Pro596Leu)
c.683C>T (p.Pro228Leu)
 dbSNP
19g.12655740G>CCA404244773MAN2B1c.1784C>G (p.Pro595Arg)
c.1781C>G (p.Pro594Arg)
n.390C>G
n.2374C>G
c.377C>G
n.381C>G
c.148C>G
c.1787C>G (p.Pro596Arg)
c.683C>G (p.Pro228Arg)
19g.12655740G=CA2323502820MAN2B1c.1784C= (p.Pro595=)
c.1781C= (p.Pro594=)
n.390C=
n.2374C=
c.377C=
n.381C=
c.148C=
c.1787C= (p.Pro596=)
c.683C= (p.Pro228=)
19g.12655740G>TCA404244772MAN2B1c.1784C>A (p.Pro595His)
c.1781C>A (p.Pro594His)
n.390C>A
n.2374C>A
c.377C>A
n.381C>A
c.148C>A
c.1787C>A (p.Pro596His)
c.683C>A (p.Pro228His)
 dbSNP gnomAD v2 gnomAD v4
19g.12655740_12655750delinsGGCTGTGGTGCCA2323502819MAN2B1c.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=)
19g.12655741G>ACA404244774MAN2B1c.1783C>T (p.Pro595Ser)
c.1780C>T (p.Pro594Ser)
n.389C>T
n.2373C>T
c.376C>T
n.380C>T
c.147C>T
c.1786C>T (p.Pro596Ser)
c.682C>T (p.Pro228Ser)
 dbSNP gnomAD v4
19g.12655741G>CCA404244775MAN2B1c.1783C>G (p.Pro595Ala)
c.1780C>G (p.Pro594Ala)
n.389C>G
n.2373C>G
c.376C>G
n.380C>G
c.147C>G
c.1786C>G (p.Pro596Ala)
c.682C>G (p.Pro228Ala)
19g.12655741G=CA2323502821MAN2B1c.1783C= (p.Pro595=)
c.1780C= (p.Pro594=)
n.389C=
n.2373C=
c.376C=
n.380C=
c.147C=
c.1786C= (p.Pro596=)
c.682C= (p.Pro228=)
19g.12655741G>TCA404244776MAN2B1c.1783C>A (p.Pro595Thr)
c.1780C>A (p.Pro594Thr)
n.389C>A
n.2373C>A
c.376C>A
n.380C>A
c.147C>A
c.1786C>A (p.Pro596Thr)
c.682C>A (p.Pro228Thr)
19g.12655743_12655752delCA16041948MAN2B1c.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
19g.12655742C>ACA404244778MAN2B1c.1782G>T (p.Gln594His)
c.1779G>T (p.Gln593His)
n.388G>T
n.2372G>T
c.375G>T
n.379G>T
c.146G>T
c.1785G>T (p.Gln595His)
c.681G>T (p.Gln227His)
19g.12655742C=CA2323502822MAN2B1c.1782G= (p.Gln594=)
c.1779G= (p.Gln593=)
n.388G=
n.2372G=
c.375G=
n.379G=
c.146G=
c.1785G= (p.Gln595=)
c.681G= (p.Gln227=)
19g.12655742C>GCA404244777MAN2B1c.1782G>C (p.Gln594His)
c.1779G>C (p.Gln593His)
n.388G>C
n.2372G>C
c.375G>C
n.379G>C
c.146G>C
c.1785G>C (p.Gln595His)
c.681G>C (p.Gln227His)
19g.12655742C>TCA9226327MAN2B1c.1782G>A (p.Gln594=)
c.1779G>A (p.Gln593=)
n.388G>A
n.2372G>A
c.375G>A
n.379G>A
c.146G>A
c.1785G>A (p.Gln595=)
c.681G>A (p.Gln227=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12655743T>ACA404244779MAN2B1c.1781A>T (p.Gln594Leu)
c.1778A>T (p.Gln593Leu)
n.387A>T
n.2371A>T
c.374A>T
n.378A>T
c.145A>T
c.1784A>T (p.Gln595Leu)
c.680A>T (p.Gln227Leu)
19g.12655743T>CCA404244780MAN2B1c.1781A>G (p.Gln594Arg)
c.1778A>G (p.Gln593Arg)
n.387A>G
n.2371A>G
c.374A>G
n.378A>G
c.145A>G
c.1784A>G (p.Gln595Arg)
c.680A>G (p.Gln227Arg)
19g.12655743T>GCA404244781MAN2B1c.1781A>C (p.Gln594Pro)
c.1778A>C (p.Gln593Pro)
n.387A>C
n.2371A>C
c.374A>C
n.378A>C
c.145A>C
c.1784A>C (p.Gln595Pro)
c.680A>C (p.Gln227Pro)
19g.12655744G>ACA404244782MAN2B1c.1780C>T (p.Gln594Ter)
c.1777C>T (p.Gln593Ter)
n.386C>T
n.2370C>T
c.373C>T
n.377C>T
c.144C>T
c.1783C>T (p.Gln595Ter)
c.679C>T (p.Gln227Ter)
19g.12655744G>CCA404244783MAN2B1c.1780C>G (p.Gln594Glu)
c.1777C>G (p.Gln593Glu)
n.386C>G
n.2370C>G
c.373C>G
n.377C>G
c.144C>G
c.1783C>G (p.Gln595Glu)
c.679C>G (p.Gln227Glu)
19g.12655744G>TCA404244784MAN2B1c.1780C>A (p.Gln594Lys)
c.1777C>A (p.Gln593Lys)
n.386C>A
n.2370C>A
c.373C>A
n.377C>A
c.144C>A
c.1783C>A (p.Gln595Lys)
c.679C>A (p.Gln227Lys)
19g.12655745T>ACA505624696MAN2B1c.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
19g.12655745T>CCA9226328MAN2B1c.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
19g.12655745T>GCA505624697MAN2B1c.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=)
19g.12655745T=CA2323502823MAN2B1c.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=)
19g.12655746G>ACA404244785MAN2B1c.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)
19g.12655746G>CCA404244786MAN2B1c.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)
19g.12655746G>TCA404244787MAN2B1c.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)
19g.12655747delCA2582719283MAN2B1c.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
19g.12655747G>ACA305469541MAN2B1c.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
19g.12655747G>CCA404244788MAN2B1c.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)
19g.12655747G=CA2323502824MAN2B1c.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=)
19g.12655747G>TCA404244789MAN2B1c.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
19g.12655748T>ACA505624698MAN2B1c.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=)
19g.12655748T>CCA505624700MAN2B1c.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
19g.12655748T>GCA505624699MAN2B1c.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=)
19g.12655749G>ACA404244790MAN2B1c.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
19g.12655749G>CCA404244792MAN2B1c.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)
19g.12655749G>TCA404244791MAN2B1c.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)
19g.12655750C>ACA404244793MAN2B1c.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
19g.12655750C=CA2323502825MAN2B1c.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=)
19g.12655750C>GCA404244794MAN2B1c.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)
19g.12655750C>TCA9226329MAN2B1c.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
19g.12655751G>ACA305469547MAN2B1c.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
19g.12655751G>CCA505624701MAN2B1c.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=)
19g.12655751G=CA2323502826MAN2B1c.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=)
19g.12655751G>TCA505624702MAN2B1c.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=)
19g.12655752C>ACA404244795MAN2B1c.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)
19g.12655752C=CA2323502827MAN2B1c.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=)
19g.12655752C>GCA404244796MAN2B1c.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)
19g.12655752C>TCA9226330MAN2B1c.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
19g.12655753G>ACA404244797MAN2B1c.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
19g.12655753G>CCA305469573MAN2B1c.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
19g.12655753G=CA2323502828MAN2B1c.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=)
19g.12655753G>TCA404244798MAN2B1c.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)
19g.12655754G>ACA505624705MAN2B1c.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
19g.12655754G>CCA505624703MAN2B1c.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
19g.12655754G>TCA505624704MAN2B1c.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=)
19g.12655755G>ACA404244799MAN2B1c.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)
19g.12655755G>CCA404244800MAN2B1c.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)
19g.12655755G>TCA404244801MAN2B1c.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)
19g.12655756C>ACA404244804MAN2B1c.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)
19g.12655756C=CA2323502829MAN2B1c.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=)
19g.12655756C>GCA404244802MAN2B1c.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)
19g.12655756C>TCA404244803MAN2B1c.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
19g.12655757delCA2576634802MAN2B1c.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
19g.12655757C>ACA404244805MAN2B1c.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
19g.12655757C>GCA404244806MAN2B1c.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)
19g.12655757C>TCA505624706MAN2B1c.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=)
19g.12655758T>ACA404244807MAN2B1c.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)
19g.12655758T>CCA404244808MAN2B1c.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)
19g.12655758T>GCA404244809MAN2B1c.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)
19g.12655759G>ACA404244810MAN2B1c.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)
19g.12655759G>CCA404244811MAN2B1c.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
19g.12655759G=CA2323502830MAN2B1c.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=)
19g.12655759G>TCA404244812MAN2B1c.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)
19g.12655762delCA2582719284MAN2B1c.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
19g.12655760G>ACA505624709MAN2B1c.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=)
19g.12655760G>CCA505624707MAN2B1c.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=)
19g.12655760G>TCA505624708MAN2B1c.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=)
19g.12655761G>ACA404244813MAN2B1c.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
19g.12655761G>CCA404244814MAN2B1c.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)
19g.12655761G=CA2323502831MAN2B1c.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=)
19g.12655761G>TCA404244815MAN2B1c.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
19g.12655762G>ACA404244818MAN2B1c.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)
19g.12655762G>CCA404244817MAN2B1c.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)
19g.12655762G>TCA404244816MAN2B1c.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)
19g.12655763C>ACA404244819MAN2B1c.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)
19g.12655763C>GCA404244820MAN2B1c.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)
19g.12655763C>TCA505624710MAN2B1c.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=)
19g.12655764T>ACA404244821MAN2B1c.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)
19g.12655764T>CCA404244823MAN2B1c.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)
19g.12655764T>GCA404244822MAN2B1c.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)
19g.12655765T>ACA404244824MAN2B1c.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)
19g.12655765T>CCA404244826MAN2B1c.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)
19g.12655765T>GCA404244825MAN2B1c.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)
19g.12655766C>ACA404244827MAN2B1c.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
19g.12655766C>GCA404244828MAN2B1c.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)
19g.12655766C>TCA404244829MAN2B1c.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)
19g.12655767C>ACA404244830MAN2B1c.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)
19g.12655767C>GCA404244831MAN2B1c.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)
19g.12655767C>TCA404244832MAN2B1c.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)
19g.12655768A>CCA404244833MAN2B1c.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)
19g.12655768A>GCA404244834MAN2B1c.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)
19g.12655768A>TCA404244835MAN2B1c.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)
19g.12655769G>ACA505624711MAN2B1c.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=)
19g.12655769G>CCA9226331MAN2B1c.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
19g.12655769G=CA2323502832MAN2B1c.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=)
19g.12655769G>TCA505624712MAN2B1c.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
19g.12655770C>ACA404244836MAN2B1c.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
19g.12655770C=CA2323502833MAN2B1c.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=)
19g.12655770C>GCA404244837MAN2B1c.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)
19g.12655770C>TCA404244838MAN2B1c.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
19g.12655771G>ACA9226332MAN2B1c.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
19g.12655771G>CCA404244840MAN2B1c.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
19g.12655771G=CA2323502834MAN2B1c.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=)
19g.12655771G>TCA404244839MAN2B1c.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)
19g.12655772A>CCA505624713MAN2B1c.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=)
19g.12655772A>GCA505624714MAN2B1c.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
19g.12655772A>TCA505624715MAN2B1c.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=)
19g.12655773G>ACA404244841MAN2B1c.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)
19g.12655773G>CCA404244842MAN2B1c.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)
19g.12655773G>TCA404244843MAN2B1c.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)
19g.12655774G>ACA404244844MAN2B1c.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
19g.12655774G>CCA404244845MAN2B1c.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)
19g.12655774G=CA2323502835MAN2B1c.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=)
19g.12655774G>TCA404244846MAN2B1c.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)
19g.12655775C>ACA505624716MAN2B1c.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=)
19g.12655775C>GCA505624717MAN2B1c.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=)
19g.12655775C>TCA505624718MAN2B1c.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
19g.12655776A>CCA404244847MAN2B1c.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)
19g.12655776A>GCA404244848MAN2B1c.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)
19g.12655776A>TCA404244849MAN2B1c.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
19g.12655777C>ACA404244852MAN2B1c.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)
19g.12655777C=CA2323502836MAN2B1c.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=)
19g.12655777C>GCA404244851MAN2B1c.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)
19g.12655777C>TCA404244850MAN2B1c.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
19g.12655778C>ACA404244853MAN2B1c.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)
19g.12655778C>GCA404244854MAN2B1c.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)
19g.12655778C>TCA505624719MAN2B1c.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=)
19g.12655779T>ACA404244855MAN2B1c.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)
19g.12655779T>CCA404244856MAN2B1c.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)
19g.12655779T>GCA404244857MAN2B1c.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)
19g.12655780G>ACA404244858MAN2B1c.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)
19g.12655780G>CCA9226333MAN2B1c.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
19g.12655780G=CA2323502837MAN2B1c.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=)
19g.12655780G>TCA404244859MAN2B1c.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)
19g.12655781G>ACA505624720MAN2B1c.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=)
19g.12655781G>CCA505624722MAN2B1c.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=)
19g.12655781G>TCA505624721MAN2B1c.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=)
19g.12655782G>ACA404244860MAN2B1c.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
19g.12655782G>CCA404244861MAN2B1c.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)
19g.12655782G>TCA404244862MAN2B1c.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)
19g.12655783C>ACA404244865MAN2B1c.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)
19g.12655783C>GCA404244864MAN2B1c.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)
19g.12655783C>TCA404244863MAN2B1c.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
19g.12655785_12655787delCA2580096475MAN2B1c.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
19g.12655784T>ACA505624723MAN2B1c.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=)
19g.12655784T>CCA9226334MAN2B1c.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
19g.12655784T>GCA505624724MAN2B1c.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=)
19g.12655784T=CA2323502838MAN2B1c.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=)
19g.12655785A>CCA404244866MAN2B1c.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)
19g.12655785A>GCA404244867MAN2B1c.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
19g.12655785A>TCA404244868MAN2B1c.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)
19g.12655786C>ACA404244869MAN2B1c.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)
19g.12655786C>GCA404244870MAN2B1c.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)
19g.12655786C>TCA404244871MAN2B1c.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
19g.12655787T>ACA505624725MAN2B1c.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=)
19g.12655787T>CCA505624726MAN2B1c.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
19g.12655787T>GCA505624727MAN2B1c.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=)
19g.12655788G>ACA404244872MAN2B1c.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)
19g.12655788G>CCA404244873MAN2B1c.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
19g.12655788G=CA2323502839MAN2B1c.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=)
19g.12655788G>TCA404244874MAN2B1c.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)
19g.12655789A=CA2323502840MAN2B1c.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=)
19g.12655789A>CCA404244875MAN2B1c.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
19g.12655789A>GCA404244876MAN2B1c.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
19g.12655789A>TCA404244877MAN2B1c.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)
19g.12655790A=CA2323502841MAN2B1c.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=)
19g.12655790A>CCA404244878MAN2B1c.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)
19g.12655790A>GCA505624728MAN2B1c.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
19g.12655790A>TCA404244879MAN2B1c.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)
19g.12655790_12655800delinsTCA2580096476MAN2B1c.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
19g.12655791T>ACA404244880MAN2B1c.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)
19g.12655791T>CCA404244882MAN2B1c.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)
19g.12655791T>GCA404244881MAN2B1c.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)
19g.12655792A>CCA404244883MAN2B1c.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)
19g.12655792A>GCA404244884MAN2B1c.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)
19g.12655792A>TCA404244885MAN2B1c.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)
19g.12655793G>ACA9226335MAN2B1c.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
19g.12655793G>CCA505624730MAN2B1c.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=)
19g.12655793G=CA2323502842MAN2B1c.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=)
19g.12655793G>TCA505624729MAN2B1c.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=)
19g.12655794G>ACA404244886MAN2B1c.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
19g.12655794G>CCA404244887MAN2B1c.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
19g.12655794G>TCA404244888MAN2B1c.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)
19g.12655795T>ACA404244889MAN2B1c.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)
19g.12655795T>CCA404244890MAN2B1c.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)
19g.12655795T>GCA404244891MAN2B1c.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)
19g.12655796G>ACA505624731MAN2B1c.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=)
19g.12655796G>CCA404244892MAN2B1c.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)
19g.12655796G>TCA404244893MAN2B1c.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)
19g.12655797C>ACA404244894MAN2B1c.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)
19g.12655797C>GCA404244896MAN2B1c.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)
19g.12655797C>TCA404244895MAN2B1c.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)
19g.12655798T>ACA404244897MAN2B1c.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)
19g.12655798T>CCA404244898MAN2B1c.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)
19g.12655798T>GCA404244899MAN2B1c.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)
19g.12655799G>ACA9226336MAN2B1c.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
19g.12655799G>CCA404244900MAN2B1c.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)
19g.12655799G=CA2323502843MAN2B1c.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=)
19g.12655799G>TCA404244901MAN2B1c.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)
19g.12655800A>CCA404244902MAN2B1c.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)
19g.12655800A>GCA404244903MAN2B1c.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)
19g.12655800A>TCA404244904MAN2B1c.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)
19g.12655801A>CCA404244906MAN2B1c.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)
19g.12655801A>GCA404244907MAN2B1c.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)
19g.12655801A>TCA404244905MAN2B1c.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)
19g.12655802G>ACA505624734MAN2B1c.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
19g.12655802G>CCA505624733MAN2B1c.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=)
19g.12655802G=CA2323502844MAN2B1c.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=)
19g.12655802G>TCA505624732MAN2B1c.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=)
19g.12655803C>ACA404244908MAN2B1c.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)
19g.12655803C=CA2323502845MAN2B1c.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=)
19g.12655803C>GCA404244909MAN2B1c.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
19g.12655803C>TCA305469590MAN2B1c.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
19g.12655804C>ACA404244910MAN2B1c.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)
19g.12655804C>GCA404244911MAN2B1c.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)
19g.12655804C>TCA404244912MAN2B1c.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)
19g.12655805C>ACA505624735MAN2B1c.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
19g.12655805C=CA2323502846MAN2B1c.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=)
19g.12655805C>GCA305469594MAN2B1c.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
19g.12655805C>TCA505624736MAN2B1c.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
19g.12655806A=CA2323502847MAN2B1c.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=)
19g.12655806A>CCA404244913MAN2B1c.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
19g.12655806A>GCA404244914MAN2B1c.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)
19g.12655806A>TCA404244915MAN2B1c.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)
19g.12655807G>ACA505624737MAN2B1c.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
19g.12655807G>CCA404244916MAN2B1c.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
19g.12655807G=CA2323502848MAN2B1c.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=)
19g.12655807G>TCA404244917MAN2B1c.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)
19g.12655808G>ACA505624738MAN2B1c.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
19g.12655808G>CCA505624739MAN2B1c.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=)
19g.12655808G=CA2323502849MAN2B1c.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=)
19g.12655808G>TCA505624740MAN2B1c.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=)
19g.12655809G>ACA404244919MAN2B1c.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
19g.12655809G>CCA404244920MAN2B1c.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)
19g.12655809G=CA2323502850MAN2B1c.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=)
19g.12655809G>TCA404244918MAN2B1c.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)
19g.12655810C>ACA9226337MAN2B1c.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
19g.12655810C=CA2323502851MAN2B1c.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=)
19g.12655810C>GCA404244921MAN2B1c.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)
19g.12655810C>TCA9226338MAN2B1c.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
19g.12655811G>ACA9226339MAN2B1c.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
19g.12655811G>CCA505624741MAN2B1c.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
19g.12655811G=CA2323502852MAN2B1c.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=)
19g.12655811G>TCA505624742MAN2B1c.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=)
19g.12655812G>ACA404244924MAN2B1c.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)
19g.12655812G>CCA404244923MAN2B1c.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)
19g.12655812G>TCA404244922MAN2B1c.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
19g.12655813G>ACA404244925MAN2B1c.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
19g.12655813G>CCA404244926MAN2B1c.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)
19g.12655813G>TCA404244927MAN2B1c.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)
19g.12655814C>ACA505624743MAN2B1c.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=)
19g.12655814C=CA2323502853MAN2B1c.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=)
19g.12655814C>GCA505624744MAN2B1c.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=)
19g.12655814C>TCA505624745MAN2B1c.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
19g.12655815A>CCA404244928MAN2B1c.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)
19g.12655815A>GCA404244929MAN2B1c.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)
19g.12655815A>TCA404244930MAN2B1c.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)
19g.12655815_12655817delinsAGTCA2323502854MAN2B1c.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=)
19g.12655816G>ACA9226340MAN2B1c.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
19g.12655816G>CCA404244932MAN2B1c.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)
19g.12655816G=CA2323502855MAN2B1c.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=)
19g.12655816G>TCA404244931MAN2B1c.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)
19g.12655817_12655818delCA221080MAN2B1c.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
19g.12655817T>ACA505624746MAN2B1c.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=)
19g.12655817T>CCA505624747MAN2B1c.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
19g.12655817T>GCA505624748MAN2B1c.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=)
19g.12655817T=CA2323502856MAN2B1c.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=)
19g.12655818G>ACA404244935MAN2B1c.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)
19g.12655818G>CCA404244933MAN2B1c.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
19g.12655818G>TCA404244934MAN2B1c.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)
19g.12655819A=CA2323502857MAN2B1c.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=)
19g.12655819A>CCA404244936MAN2B1c.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)
19g.12655819A>GCA404244937MAN2B1c.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
19g.12655819A>TCA404244938MAN2B1c.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)
19g.12655820G>ACA9226341MAN2B1c.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
19g.12655820G>CCA505624749MAN2B1c.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
19g.12655820G=CA2323502858MAN2B1c.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=)
19g.12655820G>TCA505624750MAN2B1c.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=)
19g.12655821G>ACA404244939MAN2B1c.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
19g.12655821G>CCA404244940MAN2B1c.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
19g.12655821G=CA2323502859MAN2B1c.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=)
19g.12655821G>TCA404244941MAN2B1c.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)
19g.12655822C>ACA404244942MAN2B1c.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)
19g.12655822C=CA2323502860MAN2B1c.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=)
19g.12655822C>GCA404244943MAN2B1c.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)
19g.12655822C>TCA404244944MAN2B1c.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
19g.12655823T>ACA505624751MAN2B1c.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=)
19g.12655823T>CCA505624753MAN2B1c.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
19g.12655823T>GCA505624752MAN2B1c.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=)
19g.12655823T=CA2323502861MAN2B1c.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=)
19g.12655824G>ACA404244947MAN2B1c.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
19g.12655824G>CCA404244945MAN2B1c.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)
19g.12655824G>TCA404244946MAN2B1c.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)
19g.12655825A>CCA404244948MAN2B1c.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)
19g.12655825A>GCA404244949MAN2B1c.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)
19g.12655825A>TCA404244950MAN2B1c.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)
19g.12655826G>ACA505624754MAN2B1c.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=)
19g.12655826G>CCA404244951MAN2B1c.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
19g.12655826G>TCA404244952MAN2B1c.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)
19g.12655827A>CCA404244953MAN2B1c.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)
19g.12655827A>GCA404244954MAN2B1c.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)
19g.12655827A>TCA404244955MAN2B1c.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)
19g.12655828A>CCA404244956MAN2B1c.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)
19g.12655828A>GCA404244957MAN2B1c.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)
19g.12655828A>TCA404244958MAN2B1c.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)
19g.12655829C>ACA505624755MAN2B1c.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
19g.12655829C=CA2323502862MAN2B1c.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=)
19g.12655829C>GCA505624756MAN2B1c.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
19g.12655829C>TCA9226342MAN2B1c.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
19g.12655830A=CA2323502863MAN2B1c.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=)
19g.12655830A>CCA404244960MAN2B1c.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
19g.12655830A>GCA350998MAN2B1c.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
19g.12655830A>TCA404244959MAN2B1c.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)
19g.12655831G>ACA505624757MAN2B1c.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=)
19g.12655831G>CCA404244965MAN2B1c.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)
19g.12655831G=CA2323502864MAN2B1c.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=)
19g.12655831G>TCA9226343MAN2B1c.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
19g.12655832C>ACA505624758MAN2B1c.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=)
19g.12655832C>GCA505624759MAN2B1c.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=)
19g.12655832C>TCA505624760MAN2B1c.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=)
19g.12655833A>CCA404244967MAN2B1c.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)
19g.12655833A>GCA404244968MAN2B1c.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)
19g.12655833A>TCA404244969MAN2B1c.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)
19g.12655834G>ACA505624761MAN2B1c.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=)
19g.12655834G>CCA404244970MAN2B1c.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)
19g.12655834G>TCA404244971MAN2B1c.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
19g.12655835C>ACA404244972MAN2B1c.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
19g.12655835C>GCA404244973MAN2B1c.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)
19g.12655835C>TCA505624762MAN2B1c.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=)
19g.12655836T>ACA404244974MAN2B1c.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)
19g.12655836T>CCA404244976MAN2B1c.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)
19g.12655836T>GCA404244978MAN2B1c.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)
19g.12655837C>ACA16041949MAN2B1c.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
19g.12655837C=CA2323502865MAN2B1c.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=)
19g.12655837C>GCA404244981MAN2B1c.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)
19g.12655837C>TCA404244982MAN2B1c.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)
19g.12655838C>ACA505624763MAN2B1c.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=)
19g.12655838C=CA2323502866MAN2B1c.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=)
19g.12655838C>GCA505624764MAN2B1c.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=)
19g.12655838C>TCA9226344MAN2B1c.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
19g.12655839G>ACA9226345MAN2B1c.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
19g.12655839G>CCA404244985MAN2B1c.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)
19g.12655839G=CA2323502867MAN2B1c.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=)
19g.12655839G>TCA9226346MAN2B1c.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
19g.12655840G>ACA404244988MAN2B1c.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
19g.12655840G>CCA404244990MAN2B1c.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
19g.12655840G=CA2323502868MAN2B1c.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=)
19g.12655840G>TCA404244991MAN2B1c.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)

Number of alleles fetched