| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12655737A= | CA2323502817 | MAN2B1 | c.1787T= (p.Ile596=) c.1784T= (p.Ile595=) n.393T= n.2377T= c.380T= n.384T= c.151T= c.1790T= (p.Ile597=) c.686T= (p.Ile229=) | |
| 19 | g.12655737A>C | CA9226326 | MAN2B1 | c.1787T>G (p.Ile596Ser) c.1784T>G (p.Ile595Ser) n.393T>G n.2377T>G c.380T>G n.384T>G c.151T>G c.1790T>G (p.Ile597Ser) c.686T>G (p.Ile229Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12655737A>G | CA404244767 | MAN2B1 | c.1787T>C (p.Ile596Thr) c.1784T>C (p.Ile595Thr) n.393T>C n.2377T>C c.380T>C n.384T>C c.151T>C c.1790T>C (p.Ile597Thr) c.686T>C (p.Ile229Thr) | |
| 19 | g.12655737A>T | CA404244768 | MAN2B1 | c.1787T>A (p.Ile596Asn) c.1784T>A (p.Ile595Asn) n.393T>A n.2377T>A c.380T>A n.384T>A c.151T>A c.1790T>A (p.Ile597Asn) c.686T>A (p.Ile229Asn) | ClinVar dbSNP gnomAD v4 |
| 19 | g.12655738T>A | CA404244769 | MAN2B1 | c.1786A>T (p.Ile596Phe) c.1783A>T (p.Ile595Phe) n.392A>T n.2376A>T c.379A>T n.383A>T c.150A>T c.1789A>T (p.Ile597Phe) c.685A>T (p.Ile229Phe) | |
| 19 | g.12655738T>C | CA305469530 | MAN2B1 | c.1786A>G (p.Ile596Val) c.1783A>G (p.Ile595Val) n.392A>G n.2376A>G c.379A>G n.383A>G c.150A>G c.1789A>G (p.Ile597Val) c.685A>G (p.Ile229Val) | dbSNP gnomAD v4 |
| 19 | g.12655738T>G | CA404244770 | MAN2B1 | c.1786A>C (p.Ile596Leu) c.1783A>C (p.Ile595Leu) n.392A>C n.2376A>C c.379A>C n.383A>C c.150A>C c.1789A>C (p.Ile597Leu) c.685A>C (p.Ile229Leu) | |
| 19 | g.12655738T= | CA2323502818 | MAN2B1 | c.1786A= (p.Ile596=) c.1783A= (p.Ile595=) n.392A= n.2376A= c.379A= n.383A= c.150A= c.1789A= (p.Ile597=) c.685A= (p.Ile229=) | |
| 19 | g.12655739G>A | CA505624693 | MAN2B1 | c.1785C>T (p.Pro595=) c.1782C>T (p.Pro594=) n.391C>T n.2375C>T c.378C>T n.382C>T c.149C>T c.1788C>T (p.Pro596=) c.684C>T (p.Pro228=) | |
| 19 | g.12655739G>C | CA505624694 | MAN2B1 | c.1785C>G (p.Pro595=) c.1782C>G (p.Pro594=) n.391C>G n.2375C>G c.378C>G n.382C>G c.149C>G c.1788C>G (p.Pro596=) c.684C>G (p.Pro228=) | |
| 19 | g.12655739G>T | CA505624695 | MAN2B1 | c.1785C>A (p.Pro595=) c.1782C>A (p.Pro594=) n.391C>A n.2375C>A c.378C>A n.382C>A c.149C>A c.1788C>A (p.Pro596=) c.684C>A (p.Pro228=) | |
| 19 | g.12655740G>A | CA404244771 | MAN2B1 | c.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 |
| 19 | g.12655740G>C | CA404244773 | MAN2B1 | c.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) | |
| 19 | g.12655740G= | CA2323502820 | MAN2B1 | c.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=) | |
| 19 | g.12655740G>T | CA404244772 | MAN2B1 | c.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 |
| 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.12655741G>A | CA404244774 | MAN2B1 | c.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 |
| 19 | g.12655741G>C | CA404244775 | MAN2B1 | c.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) | |
| 19 | g.12655741G= | CA2323502821 | MAN2B1 | c.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=) | |
| 19 | g.12655741G>T | CA404244776 | MAN2B1 | c.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) | |
| 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.12655742C>A | CA404244778 | MAN2B1 | c.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) | |
| 19 | g.12655742C= | CA2323502822 | MAN2B1 | c.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=) | |
| 19 | g.12655742C>G | CA404244777 | MAN2B1 | c.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) | |
| 19 | g.12655742C>T | CA9226327 | MAN2B1 | c.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 |
| 19 | g.12655743T>A | CA404244779 | MAN2B1 | c.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) | |
| 19 | g.12655743T>C | CA404244780 | MAN2B1 | c.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) | |
| 19 | g.12655743T>G | CA404244781 | MAN2B1 | c.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) | |
| 19 | g.12655744G>A | CA404244782 | MAN2B1 | c.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) | |
| 19 | g.12655744G>C | CA404244783 | MAN2B1 | c.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) | |
| 19 | g.12655744G>T | CA404244784 | MAN2B1 | c.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) | |
| 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 |