| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81535170_81535175del | CA2666620837 | GBE1 | c.1934+23_1934+28del (n.1934+23_1934+28del) n.358_363del c.1811+23_1811+28del (n.1811+23_1811+28del) | gnomAD v4 |
| 3 | g.81535174C>A | CA2666620841 | GBE1 | c.1934+21G>T (n.1934+21G>T) n.356G>T c.1811+21G>T (n.1811+21G>T) | gnomAD v4 |
| 3 | g.81535174C>T | CA2666620842 | GBE1 | c.1934+21G>A (n.1934+21G>A) n.356G>A c.1811+21G>A (n.1811+21G>A) | gnomAD v4 |
| 3 | g.81535176C>A | CA2666620843 | GBE1 | c.1934+19G>T (n.1934+19G>T) n.354G>T c.1811+19G>T (n.1811+19G>T) | gnomAD v4 |
| 3 | g.81535177T>C | CA2666620844 | GBE1 | c.1934+18A>G (n.1934+18A>G) n.353A>G c.1811+18A>G (n.1811+18A>G) | gnomAD v4 |
| 3 | g.81535178G>A | CA2577825644 | GBE1 | c.1934+17C>T (n.1934+17C>T) n.352C>T c.1811+17C>T (n.1811+17C>T) | gnomAD v4 |
| 3 | g.81535178G>C | CA2666620845 | GBE1 | c.1934+17C>G (n.1934+17C>G) n.352C>G c.1811+17C>G (n.1811+17C>G) | gnomAD v4 |
| 3 | g.81535178G>T | CA2577825645 | GBE1 | c.1934+17C>A (n.1934+17C>A) n.352C>A c.1811+17C>A (n.1811+17C>A) | gnomAD v4 |
| 3 | g.81535179G>A | CA2600824766 | GBE1 | c.1934+16C>T (n.1934+16C>T) n.351C>T c.1811+16C>T (n.1811+16C>T) | gnomAD v3 gnomAD v4 |
| 3 | g.81535180T>C | CA2666620846 | GBE1 | c.1934+15A>G (n.1934+15A>G) n.350A>G c.1811+15A>G (n.1811+15A>G) | gnomAD v4 |
| 3 | g.81535182A= | CA1378679207 | GBE1 | c.1934+13T= (n.1934+13T=) n.348T= c.1811+13T= (n.1811+13T=) | |
| 3 | g.81535182A>G | CA2499522 | GBE1 | c.1934+13T>C (n.1934+13T>C) n.348T>C c.1811+13T>C (n.1811+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535183C= | CA1378679208 | GBE1 | c.1934+12G= (n.1934+12G=) n.347G= c.1811+12G= (n.1811+12G=) | |
| 3 | g.81535183C>G | CA1050114861 | GBE1 | c.1934+12G>C (n.1934+12G>C) n.347G>C c.1811+12G>C (n.1811+12G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535183C>T | CA2666620847 | GBE1 | c.1934+12G>A (n.1934+12G>A) n.347G>A c.1811+12G>A (n.1811+12G>A) | gnomAD v4 |
| 3 | g.81535188del | CA2666620848 | GBE1 | c.1934+11del (n.1934+11del) n.346del c.1811+11del (n.1811+11del) | gnomAD v4 |
| 3 | g.81535185A= | CA1378679209 | GBE1 | c.1934+10T= (n.1934+10T=) n.345T= c.1811+10T= (n.1811+10T=) | |
| 3 | g.81535185A>G | CA544279019 | GBE1 | c.1934+10T>C (n.1934+10T>C) n.345T>C c.1811+10T>C (n.1811+10T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535188A>G | CA2666620849 | GBE1 | c.1934+7T>C (n.1934+7T>C) n.342T>C c.1811+7T>C (n.1811+7T>C) | gnomAD v4 |
| 3 | g.81535189G>A | CA2666620850 | GBE1 | c.1934+6C>T (n.1934+6C>T) n.341C>T c.1811+6C>T (n.1811+6C>T) | gnomAD v4 |
| 3 | g.81535190G>A | CA2666620851 | GBE1 | c.1934+5C>T (n.1934+5C>T) n.340C>T c.1811+5C>T (n.1811+5C>T) | gnomAD v4 |
| 3 | g.81535190G>C | CA1378679211 | GBE1 | c.1934+5C>G (n.1934+5C>G) n.340C>G c.1811+5C>G (n.1811+5C>G) | dbSNP |
| 3 | g.81535190G= | CA1378679210 | GBE1 | c.1934+5C= (n.1934+5C=) n.340C= c.1811+5C= (n.1811+5C=) | |
| 3 | g.81535191A>G | CA2666620852 | GBE1 | c.1934+4T>C (n.1934+4T>C) n.339T>C c.1811+4T>C (n.1811+4T>C) | gnomAD v4 |
| 3 | g.81535191A>T | CA2577825646 | GBE1 | c.1934+4T>A (n.1934+4T>A) n.339T>A c.1811+4T>A (n.1811+4T>A) | |
| 3 | g.81535193A= | CA1378679212 | GBE1 | c.1934+2T= (n.1934+2T=) n.337T= c.1811+2T= (n.1811+2T=) | |
| 3 | g.81535193A>C | CA353685980 | GBE1 | c.1934+2T>G (n.1934+2T>G) n.337T>G c.1811+2T>G (n.1811+2T>G) | |
| 3 | g.81535193A>G | CA78280192 | GBE1 | c.1934+2T>C (n.1934+2T>C) n.337T>C c.1811+2T>C (n.1811+2T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535193A>T | CA353685981 | GBE1 | c.1934+2T>A (n.1934+2T>A) n.337T>A c.1811+2T>A (n.1811+2T>A) | ClinVar |
| 3 | g.81535194T>A | CA353685982 | GBE1 | c.1934+1A>T (n.1934+1A>T) n.336A>T c.1811+1A>T (n.1811+1A>T) | dbSNP gnomAD v4 |
| 3 | g.81535194T>C | CA2499523 | GBE1 | c.1934+1A>G (n.1934+1A>G) n.336A>G c.1811+1A>G (n.1811+1A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535194T>G | CA353685983 | GBE1 | c.1934+1A>C (n.1934+1A>C) n.336A>C c.1811+1A>C (n.1811+1A>C) | |
| 3 | g.81535194T= | CA1378679213 | GBE1 | c.1934+1A= (n.1934+1A=) n.336A= c.1811+1A= (n.1811+1A=) | |
| 3 | g.81535195T>A | CA353685984 | GBE1 | c.1934A>T (p.Lys645Ile) n.335A>T c.1811A>T (p.Lys604Ile) | |
| 3 | g.81535195T>C | CA353685985 | GBE1 | c.1934A>G (p.Lys645Arg) n.335A>G c.1811A>G (p.Lys604Arg) | gnomAD v4 |
| 3 | g.81535195T>G | CA353685986 | GBE1 | c.1934A>C (p.Lys645Thr) n.335A>C c.1811A>C (p.Lys604Thr) | |
| 3 | g.81535196T>A | CA353685989 | GBE1 | c.1933A>T (p.Lys645Ter) n.334A>T c.1810A>T (p.Lys604Ter) | |
| 3 | g.81535196T>C | CA353685988 | GBE1 | c.1933A>G (p.Lys645Glu) n.334A>G c.1810A>G (p.Lys604Glu) | gnomAD v4 |
| 3 | g.81535196T>G | CA353685987 | GBE1 | c.1933A>C (p.Lys645Gln) n.334A>C c.1810A>C (p.Lys604Gln) | |
| 3 | g.81535197C>A | CA434494165 | GBE1 | c.1932G>T (p.Gly644=) n.333G>T c.1809G>T (p.Gly603=) | |
| 3 | g.81535197C= | CA1378679214 | GBE1 | c.1932G= (p.Gly644=) n.333G= c.1809G= (p.Gly603=) | |
| 3 | g.81535197C>G | CA78280193 | GBE1 | c.1932G>C (p.Gly644=) n.333G>C c.1809G>C (p.Gly603=) | dbSNP |
| 3 | g.81535197C>T | CA2499524 | GBE1 | c.1932G>A (p.Gly644=) n.333G>A c.1809G>A (p.Gly603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535198C>A | CA353685990 | GBE1 | c.1931G>T (p.Gly644Val) n.332G>T c.1808G>T (p.Gly603Val) | |
| 3 | g.81535198C>G | CA353685991 | GBE1 | c.1931G>C (p.Gly644Ala) n.332G>C c.1808G>C (p.Gly603Ala) | |
| 3 | g.81535198C>T | CA353685992 | GBE1 | c.1931G>A (p.Gly644Glu) n.332G>A c.1808G>A (p.Gly603Glu) | |
| 3 | g.81535199C>A | CA353685993 | GBE1 | c.1930G>T (p.Gly644Trp) n.331G>T c.1807G>T (p.Gly603Trp) | |
| 3 | g.81535199C>G | CA353685994 | GBE1 | c.1930G>C (p.Gly644Arg) n.331G>C c.1807G>C (p.Gly603Arg) | |
| 3 | g.81535199C>T | CA353685995 | GBE1 | c.1930G>A (p.Gly644Arg) n.331G>A c.1807G>A (p.Gly603Arg) | |
| 3 | g.81535202_81535210del | CA2703098207 | GBE1 | c.1922_1930del (p.Ala641_Pro643del) n.323_331del c.1799_1807del (p.Ala600_Pro602del) | dbSNP |
| 3 | g.81535200T>A | CA434494169 | GBE1 | c.1929A>T (p.Pro643=) n.330A>T c.1806A>T (p.Pro602=) | |
| 3 | g.81535200T>C | CA434494170 | GBE1 | c.1929A>G (p.Pro643=) n.330A>G c.1806A>G (p.Pro602=) | ClinVar |
| 3 | g.81535200T>G | CA434494171 | GBE1 | c.1929A>C (p.Pro643=) n.330A>C c.1806A>C (p.Pro602=) | |
| 3 | g.81535201G>A | CA353685996 | GBE1 | c.1928C>T (p.Pro643Leu) n.329C>T c.1805C>T (p.Pro602Leu) | |
| 3 | g.81535201G>C | CA353685997 | GBE1 | c.1928C>G (p.Pro643Arg) n.329C>G c.1805C>G (p.Pro602Arg) | |
| 3 | g.81535201G>T | CA353685998 | GBE1 | c.1928C>A (p.Pro643Gln) n.329C>A c.1805C>A (p.Pro602Gln) | |
| 3 | g.81535202G>A | CA353685999 | GBE1 | c.1927C>T (p.Pro643Ser) n.328C>T c.1804C>T (p.Pro602Ser) | |
| 3 | g.81535202G>C | CA353686000 | GBE1 | c.1927C>G (p.Pro643Ala) n.328C>G c.1804C>G (p.Pro602Ala) | |
| 3 | g.81535202G>T | CA353686001 | GBE1 | c.1927C>A (p.Pro643Thr) n.328C>A c.1804C>A (p.Pro602Thr) | |
| 3 | g.81535203C>A | CA353686003 | GBE1 | c.1926G>T (p.Leu642Phe) n.327G>T c.1803G>T (p.Leu601Phe) | |
| 3 | g.81535203C>G | CA353686002 | GBE1 | c.1926G>C (p.Leu642Phe) n.327G>C c.1803G>C (p.Leu601Phe) | |
| 3 | g.81535203C>T | CA434494173 | GBE1 | c.1926G>A (p.Leu642=) n.327G>A c.1803G>A (p.Leu601=) | COSMIC COSMIC |
| 3 | g.81535204A>C | CA353686004 | GBE1 | c.1925T>G (p.Leu642Trp) n.326T>G c.1802T>G (p.Leu601Trp) | |
| 3 | g.81535204A>G | CA353686006 | GBE1 | c.1925T>C (p.Leu642Ser) n.326T>C c.1802T>C (p.Leu601Ser) | |
| 3 | g.81535204A>T | CA353686005 | GBE1 | c.1925T>A (p.Leu642Ter) n.326T>A c.1802T>A (p.Leu601Ter) | |
| 3 | g.81535205A>C | CA353686007 | GBE1 | c.1924T>G (p.Leu642Val) n.325T>G c.1801T>G (p.Leu601Val) | |
| 3 | g.81535205A>G | CA434494175 | GBE1 | c.1924T>C (p.Leu642=) n.325T>C c.1801T>C (p.Leu601=) | |
| 3 | g.81535205A>T | CA353686008 | GBE1 | c.1924T>A (p.Leu642Met) n.325T>A c.1801T>A (p.Leu601Met) | |
| 3 | g.81535206T>A | CA434494181 | GBE1 | c.1923A>T (p.Ala641=) n.324A>T c.1800A>T (p.Ala600=) | |
| 3 | g.81535206T>C | CA434494180 | GBE1 | c.1923A>G (p.Ala641=) n.324A>G c.1800A>G (p.Ala600=) | |
| 3 | g.81535206T>G | CA434494178 | GBE1 | c.1923A>C (p.Ala641=) n.324A>C c.1800A>C (p.Ala600=) | |
| 3 | g.81535207G>A | CA353686009 | GBE1 | c.1922C>T (p.Ala641Val) n.323C>T c.1799C>T (p.Ala600Val) | gnomAD v4 |
| 3 | g.81535207G>C | CA353686010 | GBE1 | c.1922C>G (p.Ala641Gly) n.323C>G c.1799C>G (p.Ala600Gly) | |
| 3 | g.81535207G>T | CA353686011 | GBE1 | c.1922C>A (p.Ala641Glu) n.323C>A c.1799C>A (p.Ala600Glu) | gnomAD v4 |
| 3 | g.81535208C>A | CA353686012 | GBE1 | c.1921G>T (p.Ala641Ser) n.322G>T c.1798G>T (p.Ala600Ser) | |
| 3 | g.81535208C= | CA1378679215 | GBE1 | c.1921G= (p.Ala641=) n.322G= c.1798G= (p.Ala600=) | |
| 3 | g.81535208C>G | CA353686013 | GBE1 | c.1921G>C (p.Ala641Pro) n.322G>C c.1798G>C (p.Ala600Pro) | |
| 3 | g.81535208C>T | CA2499525 | GBE1 | c.1921G>A (p.Ala641Thr) n.322G>A c.1798G>A (p.Ala600Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535209T>A | CA434494184 | GBE1 | c.1920A>T (p.Thr640=) n.321A>T c.1797A>T (p.Thr599=) | |
| 3 | g.81535209T>C | CA434494185 | GBE1 | c.1920A>G (p.Thr640=) n.321A>G c.1797A>G (p.Thr599=) | |
| 3 | g.81535209T>G | CA434494187 | GBE1 | c.1920A>C (p.Thr640=) n.321A>C c.1797A>C (p.Thr599=) | |
| 3 | g.81535210G>A | CA353686014 | GBE1 | c.1919C>T (p.Thr640Ile) n.320C>T c.1796C>T (p.Thr599Ile) | |
| 3 | g.81535210G>C | CA353686015 | GBE1 | c.1919C>G (p.Thr640Arg) n.320C>G c.1796C>G (p.Thr599Arg) | |
| 3 | g.81535210G= | CA1378679216 | GBE1 | c.1919C= (p.Thr640=) n.320C= c.1796C= (p.Thr599=) | |
| 3 | g.81535210G>T | CA353686016 | GBE1 | c.1919C>A (p.Thr640Lys) n.320C>A c.1796C>A (p.Thr599Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535211T>A | CA353686017 | GBE1 | c.1918A>T (p.Thr640Ser) n.319A>T c.1795A>T (p.Thr599Ser) | |
| 3 | g.81535211T>C | CA353686018 | GBE1 | c.1918A>G (p.Thr640Ala) n.319A>G c.1795A>G (p.Thr599Ala) | |
| 3 | g.81535211T>G | CA353686019 | GBE1 | c.1918A>C (p.Thr640Pro) n.319A>C c.1795A>C (p.Thr599Pro) | |
| 3 | g.81535212T>A | CA434494191 | GBE1 | c.1917A>T (p.Gly639=) n.318A>T c.1794A>T (p.Gly598=) | |
| 3 | g.81535212T>C | CA434494192 | GBE1 | c.1917A>G (p.Gly639=) n.318A>G c.1794A>G (p.Gly598=) | ClinVar dbSNP |
| 3 | g.81535212T>G | CA434494193 | GBE1 | c.1917A>C (p.Gly639=) n.318A>C c.1794A>C (p.Gly598=) | |
| 3 | g.81535213C>A | CA353686022 | GBE1 | c.1916G>T (p.Gly639Val) n.317G>T c.1793G>T (p.Gly598Val) | |
| 3 | g.81535213C>G | CA353686020 | GBE1 | c.1916G>C (p.Gly639Ala) n.317G>C c.1793G>C (p.Gly598Ala) | |
| 3 | g.81535213C>T | CA353686021 | GBE1 | c.1916G>A (p.Gly639Glu) n.317G>A c.1793G>A (p.Gly598Glu) | |
| 3 | g.81535214C>A | CA353686023 | GBE1 | c.1915G>T (p.Gly639Ter) n.316G>T c.1792G>T (p.Gly598Ter) | |
| 3 | g.81535214C>G | CA353686024 | GBE1 | c.1915G>C (p.Gly639Arg) n.316G>C c.1792G>C (p.Gly598Arg) | |
| 3 | g.81535214C>T | CA353686025 | GBE1 | c.1915G>A (p.Gly639Arg) n.316G>A c.1792G>A (p.Gly598Arg) | |
| 3 | g.81535215A>C | CA434494196 | GBE1 | c.1914T>G (p.Val638=) n.315T>G c.1791T>G (p.Val597=) | |
| 3 | g.81535215A>G | CA434494197 | GBE1 | c.1914T>C (p.Val638=) n.315T>C c.1791T>C (p.Val597=) | |
| 3 | g.81535215A>T | CA434494199 | GBE1 | c.1914T>A (p.Val638=) n.315T>A c.1791T>A (p.Val597=) | |
| 3 | g.81535216A>C | CA353686026 | GBE1 | c.1913T>G (p.Val638Gly) n.314T>G c.1790T>G (p.Val597Gly) | |
| 3 | g.81535216A>G | CA353686027 | GBE1 | c.1913T>C (p.Val638Ala) n.314T>C c.1790T>C (p.Val597Ala) | |
| 3 | g.81535216A>T | CA353686028 | GBE1 | c.1913T>A (p.Val638Asp) n.314T>A c.1790T>A (p.Val597Asp) | |
| 3 | g.81535217C>A | CA353686029 | GBE1 | c.1912G>T (p.Val638Phe) n.313G>T c.1789G>T (p.Val597Phe) | |
| 3 | g.81535217C>G | CA353686030 | GBE1 | c.1912G>C (p.Val638Leu) n.313G>C c.1789G>C (p.Val597Leu) | |
| 3 | g.81535217C>T | CA353686031 | GBE1 | c.1912G>A (p.Val638Ile) n.313G>A c.1789G>A (p.Val597Ile) | gnomAD v4 |
| 3 | g.81535218T>A | CA434494202 | GBE1 | c.1911A>T (p.Arg637=) n.312A>T c.1788A>T (p.Arg596=) | |
| 3 | g.81535218T>C | CA434494203 | GBE1 | c.1911A>G (p.Arg637=) n.312A>G c.1788A>G (p.Arg596=) | |
| 3 | g.81535218T>G | CA434494204 | GBE1 | c.1911A>C (p.Arg637=) n.312A>C c.1788A>C (p.Arg596=) | |
| 3 | g.81535219C>A | CA2499527 | GBE1 | c.1910G>T (p.Arg637Leu) n.311G>T c.1787G>T (p.Arg596Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535219C= | CA1378679217 | GBE1 | c.1910G= (p.Arg637=) n.311G= c.1787G= (p.Arg596=) | |
| 3 | g.81535219C>G | CA353686032 | GBE1 | c.1910G>C (p.Arg637Pro) n.311G>C c.1787G>C (p.Arg596Pro) | gnomAD v4 |
| 3 | g.81535219C>T | CA2499526 | GBE1 | c.1910G>A (p.Arg637Gln) n.311G>A c.1787G>A (p.Arg596Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535220G>A | CA2499528 | GBE1 | c.1909C>T (p.Arg637Ter) n.310C>T c.1786C>T (p.Arg596Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81535220G>C | CA78280194 | GBE1 | c.1909C>G (p.Arg637Gly) n.310C>G c.1786C>G (p.Arg596Gly) | dbSNP |
| 3 | g.81535220G= | CA1378679218 | GBE1 | c.1909C= (p.Arg637=) n.310C= c.1786C= (p.Arg596=) | |
| 3 | g.81535220G>T | CA434494207 | GBE1 | c.1909C>A (p.Arg637=) n.310C>A c.1786C>A (p.Arg596=) | |
| 3 | g.81535221G>A | CA434494208 | GBE1 | c.1908C>T (p.Tyr636=) n.309C>T c.1785C>T (p.Tyr595=) | |
| 3 | g.81535221G>C | CA353686033 | GBE1 | c.1908C>G (p.Tyr636Ter) n.309C>G c.1785C>G (p.Tyr595Ter) | |
| 3 | g.81535221G>T | CA353686034 | GBE1 | c.1908C>A (p.Tyr636Ter) n.309C>A c.1785C>A (p.Tyr595Ter) | |
| 3 | g.81535222T>A | CA353686035 | GBE1 | c.1907A>T (p.Tyr636Phe) n.308A>T c.1784A>T (p.Tyr595Phe) | |
| 3 | g.81535222T>C | CA353686036 | GBE1 | c.1907A>G (p.Tyr636Cys) n.308A>G c.1784A>G (p.Tyr595Cys) | gnomAD v4 |
| 3 | g.81535222T>G | CA353686037 | GBE1 | c.1907A>C (p.Tyr636Ser) n.308A>C c.1784A>C (p.Tyr595Ser) | |
| 3 | g.81535223A= | CA1378679219 | GBE1 | c.1906T= (p.Tyr636=) n.307T= c.1783T= (p.Tyr595=) | |
| 3 | g.81535223A>C | CA353686038 | GBE1 | c.1906T>G (p.Tyr636Asp) n.307T>G c.1783T>G (p.Tyr595Asp) | |
| 3 | g.81535223A>G | CA353686039 | GBE1 | c.1906T>C (p.Tyr636His) n.307T>C c.1783T>C (p.Tyr595His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535223A>T | CA353686040 | GBE1 | c.1906T>A (p.Tyr636Asn) n.307T>A c.1783T>A (p.Tyr595Asn) | |
| 3 | g.81535224G>A | CA434494210 | GBE1 | c.1905C>T (p.Asp635=) n.306C>T c.1782C>T (p.Asp594=) | |
| 3 | g.81535224G>C | CA353686041 | GBE1 | c.1905C>G (p.Asp635Glu) n.306C>G c.1782C>G (p.Asp594Glu) | |
| 3 | g.81535224G>T | CA353686042 | GBE1 | c.1905C>A (p.Asp635Glu) n.306C>A c.1782C>A (p.Asp594Glu) | |
| 3 | g.81535225T>A | CA353686043 | GBE1 | c.1904A>T (p.Asp635Val) n.305A>T c.1781A>T (p.Asp594Val) | |
| 3 | g.81535225T>C | CA353686044 | GBE1 | c.1904A>G (p.Asp635Gly) n.305A>G c.1781A>G (p.Asp594Gly) | |
| 3 | g.81535225T>G | CA353686045 | GBE1 | c.1904A>C (p.Asp635Ala) n.305A>C c.1781A>C (p.Asp594Ala) | |
| 3 | g.81535226C>A | CA353686048 | GBE1 | c.1903G>T (p.Asp635Tyr) n.304G>T c.1780G>T (p.Asp594Tyr) | |
| 3 | g.81535226C>G | CA353686046 | GBE1 | c.1903G>C (p.Asp635His) n.304G>C c.1780G>C (p.Asp594His) | gnomAD v4 |
| 3 | g.81535226C>T | CA353686047 | GBE1 | c.1903G>A (p.Asp635Asn) n.304G>A c.1780G>A (p.Asp594Asn) | |
| 3 | g.81535227A= | CA1378679220 | GBE1 | c.1902T= (p.Thr634=) n.303T= c.1779T= (p.Thr593=) | |
| 3 | g.81535227A>C | CA434494212 | GBE1 | c.1902T>G (p.Thr634=) n.303T>G c.1779T>G (p.Thr593=) | |
| 3 | g.81535227A>G | CA2499529 | GBE1 | c.1902T>C (p.Thr634=) n.303T>C c.1779T>C (p.Thr593=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535227A>T | CA434494214 | GBE1 | c.1902T>A (p.Thr634=) n.303T>A c.1779T>A (p.Thr593=) | |
| 3 | g.81535228G>A | CA2499530 | GBE1 | c.1901C>T (p.Thr634Ile) n.302C>T c.1778C>T (p.Thr593Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535228G>C | CA353686049 | GBE1 | c.1901C>G (p.Thr634Ser) n.302C>G c.1778C>G (p.Thr593Ser) | |
| 3 | g.81535228G= | CA1378679221 | GBE1 | c.1901C= (p.Thr634=) n.302C= c.1778C= (p.Thr593=) | |
| 3 | g.81535228G>T | CA353686050 | GBE1 | c.1901C>A (p.Thr634Asn) n.302C>A c.1778C>A (p.Thr593Asn) | gnomAD v4 |
| 3 | g.81535229T>A | CA353686051 | GBE1 | c.1900A>T (p.Thr634Ser) n.301A>T c.1777A>T (p.Thr593Ser) | |
| 3 | g.81535229T>C | CA2499531 | GBE1 | c.1900A>G (p.Thr634Ala) n.301A>G c.1777A>G (p.Thr593Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535229T>G | CA353686052 | GBE1 | c.1900A>C (p.Thr634Pro) n.301A>C c.1777A>C (p.Thr593Pro) | |
| 3 | g.81535229T= | CA1378679222 | GBE1 | c.1900A= (p.Thr634=) n.301A= c.1777A= (p.Thr593=) | |
| 3 | g.81535230G>A | CA434494219 | GBE1 | c.1899C>T (p.Tyr633=) n.300C>T c.1776C>T (p.Tyr592=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535230G>C | CA353686053 | GBE1 | c.1899C>G (p.Tyr633Ter) n.300C>G c.1776C>G (p.Tyr592Ter) | |
| 3 | g.81535230G= | CA1378679223 | GBE1 | c.1899C= (p.Tyr633=) n.300C= c.1776C= (p.Tyr592=) | |
| 3 | g.81535230G>T | CA353686054 | GBE1 | c.1899C>A (p.Tyr633Ter) n.300C>A c.1776C>A (p.Tyr592Ter) | |
| 3 | g.81535231T>A | CA353686055 | GBE1 | c.1898A>T (p.Tyr633Phe) n.299A>T c.1775A>T (p.Tyr592Phe) | |
| 3 | g.81535231T>C | CA353686056 | GBE1 | c.1898A>G (p.Tyr633Cys) n.299A>G c.1775A>G (p.Tyr592Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535231T>G | CA353686057 | GBE1 | c.1898A>C (p.Tyr633Ser) n.299A>C c.1775A>C (p.Tyr592Ser) | |
| 3 | g.81535231T= | CA1378679224 | GBE1 | c.1898A= (p.Tyr633=) n.299A= c.1775A= (p.Tyr592=) | |
| 3 | g.81535232A>C | CA353686060 | GBE1 | c.1897T>G (p.Tyr633Asp) n.298T>G c.1774T>G (p.Tyr592Asp) | |
| 3 | g.81535232A>G | CA353686059 | GBE1 | c.1897T>C (p.Tyr633His) n.298T>C c.1774T>C (p.Tyr592His) | |
| 3 | g.81535232A>T | CA353686058 | GBE1 | c.1897T>A (p.Tyr633Asn) n.298T>A c.1774T>A (p.Tyr592Asn) | |
| 3 | g.81535233G>A | CA434494226 | GBE1 | c.1896C>T (p.Ser632=) n.297C>T c.1773C>T (p.Ser591=) | |
| 3 | g.81535233G>C | CA353686061 | GBE1 | c.1896C>G (p.Ser632Arg) n.297C>G c.1773C>G (p.Ser591Arg) | |
| 3 | g.81535233G= | CA1378679225 | GBE1 | c.1896C= (p.Ser632=) n.297C= c.1773C= (p.Ser591=) | |
| 3 | g.81535233G>T | CA353686062 | GBE1 | c.1896C>A (p.Ser632Arg) n.297C>A c.1773C>A (p.Ser591Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535234C>A | CA353686063 | GBE1 | c.1895G>T (p.Ser632Ile) n.296G>T c.1772G>T (p.Ser591Ile) | |
| 3 | g.81535234C>G | CA353686064 | GBE1 | c.1895G>C (p.Ser632Thr) n.296G>C c.1772G>C (p.Ser591Thr) | |
| 3 | g.81535234C>T | CA353686065 | GBE1 | c.1895G>A (p.Ser632Asn) n.296G>A c.1772G>A (p.Ser591Asn) | |
| 3 | g.81535235T>A | CA353686066 | GBE1 | c.1894A>T (p.Ser632Cys) n.295A>T c.1771A>T (p.Ser591Cys) | |
| 3 | g.81535235T>C | CA353686067 | GBE1 | c.1894A>G (p.Ser632Gly) n.295A>G c.1771A>G (p.Ser591Gly) | |
| 3 | g.81535235T>G | CA353686068 | GBE1 | c.1894A>C (p.Ser632Arg) n.295A>C c.1771A>C (p.Ser591Arg) | |
| 3 | g.81535236C>A | CA353686069 | GBE1 | c.1893G>T (p.Lys631Asn) n.294G>T c.1770G>T (p.Lys590Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535236C= | CA1378679226 | GBE1 | c.1893G= (p.Lys631=) n.294G= c.1770G= (p.Lys590=) | |
| 3 | g.81535236C>G | CA353686070 | GBE1 | c.1893G>C (p.Lys631Asn) n.294G>C c.1770G>C (p.Lys590Asn) | |
| 3 | g.81535236C>T | CA2499532 | GBE1 | c.1893G>A (p.Lys631=) n.294G>A c.1770G>A (p.Lys590=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535237T>A | CA353686071 | GBE1 | c.1892A>T (p.Lys631Met) n.293A>T c.1769A>T (p.Lys590Met) | |
| 3 | g.81535237T>C | CA353686072 | GBE1 | c.1892A>G (p.Lys631Arg) n.293A>G c.1769A>G (p.Lys590Arg) | |
| 3 | g.81535237T>G | CA353686073 | GBE1 | c.1892A>C (p.Lys631Thr) n.293A>C c.1769A>C (p.Lys590Thr) | |
| 3 | g.81535238T>A | CA353686076 | GBE1 | c.1891A>T (p.Lys631Ter) n.292A>T c.1768A>T (p.Lys590Ter) | |
| 3 | g.81535238T>C | CA353686074 | GBE1 | c.1891A>G (p.Lys631Glu) n.292A>G c.1768A>G (p.Lys590Glu) | |
| 3 | g.81535238T>G | CA353686075 | GBE1 | c.1891A>C (p.Lys631Gln) n.292A>C c.1768A>C (p.Lys590Gln) | |
| 3 | g.81535239G>A | CA434494229 | GBE1 | c.1890C>T (p.Ser630=) n.291C>T c.1767C>T (p.Ser589=) | |
| 3 | g.81535239G>C | CA353686077 | GBE1 | c.1890C>G (p.Ser630Arg) n.291C>G c.1767C>G (p.Ser589Arg) | |
| 3 | g.81535239G>T | CA353686078 | GBE1 | c.1890C>A (p.Ser630Arg) n.291C>A c.1767C>A (p.Ser589Arg) | |
| 3 | g.81535240C>A | CA353686079 | GBE1 | c.1889G>T (p.Ser630Ile) n.290G>T c.1766G>T (p.Ser589Ile) | |
| 3 | g.81535240C= | CA1378679227 | GBE1 | c.1889G= (p.Ser630=) n.290G= c.1766G= (p.Ser589=) | |
| 3 | g.81535240C>G | CA353686080 | GBE1 | c.1889G>C (p.Ser630Thr) n.290G>C c.1766G>C (p.Ser589Thr) | |
| 3 | g.81535240C>T | CA353686081 | GBE1 | c.1889G>A (p.Ser630Asn) n.290G>A c.1766G>A (p.Ser589Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535240_81535242delinsCTT | CA1378679228 | GBE1 | c.1887_1889delinsAAG (p.Pro629=) n.288_290delinsAAG c.1764_1766delinsAAG (p.Pro588=) | |
| 3 | g.81535241T>A | CA353686082 | GBE1 | c.1888A>T (p.Ser630Cys) n.289A>T c.1765A>T (p.Ser589Cys) | |
| 3 | g.81535241T>C | CA2499533 | GBE1 | c.1888A>G (p.Ser630Gly) n.289A>G c.1765A>G (p.Ser589Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535241T>G | CA353686083 | GBE1 | c.1888A>C (p.Ser630Arg) n.289A>C c.1765A>C (p.Ser589Arg) | |
| 3 | g.81535241T= | CA1378679229 | GBE1 | c.1888A= (p.Ser630=) n.289A= c.1765A= (p.Ser589=) | |
| 3 | g.81535241_81535242del | CA916936635 | GBE1 | c.1887_1888del (p.Ser630GlnfsTer5) n.288_289del c.1764_1765del (p.Ser589GlnfsTer5) | dbSNP gnomAD v4 |
| 3 | g.81535242T>A | CA434494231 | GBE1 | c.1887A>T (p.Pro629=) n.288A>T c.1764A>T (p.Pro588=) | |
| 3 | g.81535242T>C | CA434494232 | GBE1 | c.1887A>G (p.Pro629=) n.288A>G c.1764A>G (p.Pro588=) | |
| 3 | g.81535242T>G | CA434494233 | GBE1 | c.1887A>C (p.Pro629=) n.288A>C c.1764A>C (p.Pro588=) | |
| 3 | g.81535243G>A | CA353686084 | GBE1 | c.1886C>T (p.Pro629Leu) n.287C>T c.1763C>T (p.Pro588Leu) | |
| 3 | g.81535243G>C | CA353686085 | GBE1 | c.1886C>G (p.Pro629Arg) n.287C>G c.1763C>G (p.Pro588Arg) | |
| 3 | g.81535243G>T | CA353686086 | GBE1 | c.1886C>A (p.Pro629Gln) n.287C>A c.1763C>A (p.Pro588Gln) | |
| 3 | g.81535244G>A | CA353686088 | GBE1 | c.1885C>T (p.Pro629Ser) n.286C>T c.1762C>T (p.Pro588Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535244G>C | CA353686089 | GBE1 | c.1885C>G (p.Pro629Ala) n.286C>G c.1762C>G (p.Pro588Ala) | |
| 3 | g.81535244G= | CA1378679230 | GBE1 | c.1885C= (p.Pro629=) n.286C= c.1762C= (p.Pro588=) | |
| 3 | g.81535244G>T | CA353686087 | GBE1 | c.1885C>A (p.Pro629Thr) n.286C>A c.1762C>A (p.Pro588Thr) | dbSNP |
| 3 | g.81535245A>C | CA353686090 | GBE1 | c.1884T>G (p.His628Gln) n.285T>G c.1761T>G (p.His587Gln) | |
| 3 | g.81535245A>G | CA434494234 | GBE1 | c.1884T>C (p.His628=) n.285T>C c.1761T>C (p.His587=) | gnomAD v4 |
| 3 | g.81535245A>T | CA353686091 | GBE1 | c.1884T>A (p.His628Gln) n.285T>A c.1761T>A (p.His587Gln) | |
| 3 | g.81535246T>A | CA353686092 | GBE1 | c.1883A>T (p.His628Leu) n.284A>T c.1760A>T (p.His587Leu) | |
| 3 | g.81535246T>C | CA115760 | GBE1 | c.1883A>G (p.His628Arg) n.284A>G c.1760A>G (p.His587Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535246T>G | CA353686093 | GBE1 | c.1883A>C (p.His628Pro) n.284A>C c.1760A>C (p.His587Pro) | |
| 3 | g.81535246T= | CA1378679231 | GBE1 | c.1883A= (p.His628=) n.284A= c.1760A= (p.His587=) | |
| 3 | g.81535247G>A | CA353686094 | GBE1 | c.1882C>T (p.His628Tyr) n.283C>T c.1759C>T (p.His587Tyr) | gnomAD v4 |
| 3 | g.81535247G>C | CA353686095 | GBE1 | c.1882C>G (p.His628Asp) n.283C>G c.1759C>G (p.His587Asp) | |
| 3 | g.81535247G>T | CA353686096 | GBE1 | c.1882C>A (p.His628Asn) n.283C>A c.1759C>A (p.His587Asn) | |
| 3 | g.81535248G>A | CA434494235 | GBE1 | c.1881C>T (p.Phe627=) n.282C>T c.1758C>T (p.Phe586=) | |
| 3 | g.81535248G>C | CA353686097 | GBE1 | c.1881C>G (p.Phe627Leu) n.282C>G c.1758C>G (p.Phe586Leu) | |
| 3 | g.81535248G>T | CA353686098 | GBE1 | c.1881C>A (p.Phe627Leu) n.282C>A c.1758C>A (p.Phe586Leu) | |
| 3 | g.81535249A>C | CA353686099 | GBE1 | c.1880T>G (p.Phe627Cys) n.281T>G c.1757T>G (p.Phe586Cys) | |
| 3 | g.81535249A>G | CA353686100 | GBE1 | c.1880T>C (p.Phe627Ser) n.281T>C c.1757T>C (p.Phe586Ser) | |
| 3 | g.81535249A>T | CA353686101 | GBE1 | c.1880T>A (p.Phe627Tyr) n.281T>A c.1757T>A (p.Phe586Tyr) | |
| 3 | g.81535250A>C | CA353686104 | GBE1 | c.1879T>G (p.Phe627Val) n.280T>G c.1756T>G (p.Phe586Val) | |
| 3 | g.81535250A>G | CA353686103 | GBE1 | c.1879T>C (p.Phe627Leu) n.280T>C c.1756T>C (p.Phe586Leu) | |
| 3 | g.81535250A>T | CA353686102 | GBE1 | c.1879T>A (p.Phe627Ile) n.280T>A c.1756T>A (p.Phe586Ile) | |
| 3 | g.81535251G>A | CA434494236 | GBE1 | c.1878C>T (p.Asn626=) n.279C>T c.1755C>T (p.Asn585=) | ClinVar |
| 3 | g.81535251G>C | CA353686105 | GBE1 | c.1878C>G (p.Asn626Lys) n.279C>G c.1755C>G (p.Asn585Lys) | |
| 3 | g.81535251G>T | CA353686106 | GBE1 | c.1878C>A (p.Asn626Lys) n.279C>A c.1755C>A (p.Asn585Lys) | gnomAD v4 |
| 3 | g.81535252T>A | CA353686107 | GBE1 | c.1877A>T (p.Asn626Ile) n.278A>T c.1754A>T (p.Asn585Ile) | |
| 3 | g.81535252T>C | CA2499534 | GBE1 | c.1877A>G (p.Asn626Ser) n.278A>G c.1754A>G (p.Asn585Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535252T>G | CA353686108 | GBE1 | c.1877A>C (p.Asn626Thr) n.278A>C c.1754A>C (p.Asn585Thr) | |
| 3 | g.81535252T= | CA1378679232 | GBE1 | c.1877A= (p.Asn626=) n.278A= c.1754A= (p.Asn585=) | |
| 3 | g.81535253T>A | CA353686109 | GBE1 | c.1876A>T (p.Asn626Tyr) n.277A>T c.1753A>T (p.Asn585Tyr) | |
| 3 | g.81535253T>C | CA353686110 | GBE1 | c.1876A>G (p.Asn626Asp) n.277A>G c.1753A>G (p.Asn585Asp) | |
| 3 | g.81535253T>G | CA353686111 | GBE1 | c.1876A>C (p.Asn626His) n.277A>C c.1753A>C (p.Asn585His) | dbSNP |
| 3 | g.81535253T= | CA1378679233 | GBE1 | c.1876A= (p.Asn626=) n.277A= c.1753A= (p.Asn585=) | |
| 3 | g.81535254G>A | CA434494239 | GBE1 | c.1875C>T (p.Phe625=) n.276C>T c.1752C>T (p.Phe584=) | |
| 3 | g.81535254G>C | CA353686112 | GBE1 | c.1875C>G (p.Phe625Leu) n.276C>G c.1752C>G (p.Phe584Leu) | |
| 3 | g.81535254G>T | CA353686113 | GBE1 | c.1875C>A (p.Phe625Leu) n.276C>A c.1752C>A (p.Phe584Leu) | |
| 3 | g.81535255A= | CA1378679234 | GBE1 | c.1874T= (p.Phe625=) n.275T= c.1751T= (p.Phe584=) | |
| 3 | g.81535255A>C | CA2499535 | GBE1 | c.1874T>G (p.Phe625Cys) n.275T>G c.1751T>G (p.Phe584Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535255A>G | CA353686114 | GBE1 | c.1874T>C (p.Phe625Ser) n.275T>C c.1751T>C (p.Phe584Ser) | |
| 3 | g.81535255A>T | CA353686115 | GBE1 | c.1874T>A (p.Phe625Tyr) n.275T>A c.1751T>A (p.Phe584Tyr) | |
| 3 | g.81535256A>C | CA353686116 | GBE1 | c.1873T>G (p.Phe625Val) n.274T>G c.1750T>G (p.Phe584Val) | |
| 3 | g.81535256A>G | CA353686118 | GBE1 | c.1873T>C (p.Phe625Leu) n.274T>C c.1750T>C (p.Phe584Leu) | |
| 3 | g.81535256A>T | CA353686117 | GBE1 | c.1873T>A (p.Phe625Ile) n.274T>A c.1750T>A (p.Phe584Ile) | |
| 3 | g.81535257A>C | CA353686119 | GBE1 | c.1872T>G (p.Ile624Met) n.273T>G c.1749T>G (p.Ile583Met) | |
| 3 | g.81535257A>G | CA434494240 | GBE1 | c.1872T>C (p.Ile624=) n.273T>C c.1749T>C (p.Ile583=) | |
| 3 | g.81535257A>T | CA434494241 | GBE1 | c.1872T>A (p.Ile624=) n.273T>A c.1749T>A (p.Ile583=) | |
| 3 | g.81535258A>C | CA353686121 | GBE1 | c.1871T>G (p.Ile624Ser) n.272T>G c.1748T>G (p.Ile583Ser) | |
| 3 | g.81535258A>G | CA353686120 | GBE1 | c.1871T>C (p.Ile624Thr) n.272T>C c.1748T>C (p.Ile583Thr) | |
| 3 | g.81535258A>T | CA353686122 | GBE1 | c.1871T>A (p.Ile624Asn) n.272T>A c.1748T>A (p.Ile583Asn) | |
| 3 | g.81535259T>A | CA353686123 | GBE1 | c.1870A>T (p.Ile624Phe) n.271A>T c.1747A>T (p.Ile583Phe) | |
| 3 | g.81535259T>C | CA353686124 | GBE1 | c.1870A>G (p.Ile624Val) n.271A>G c.1747A>G (p.Ile583Val) | dbSNP gnomAD v4 |
| 3 | g.81535259T>G | CA353686125 | GBE1 | c.1870A>C (p.Ile624Leu) n.271A>C c.1747A>C (p.Ile583Leu) | |
| 3 | g.81535259T= | CA1378679235 | GBE1 | c.1870A= (p.Ile624=) n.271A= c.1747A= (p.Ile583=) | |
| 3 | g.81535260G>A | CA434494242 | GBE1 | c.1869C>T (p.Phe623=) n.270C>T c.1746C>T (p.Phe582=) | |
| 3 | g.81535260G>C | CA353686126 | GBE1 | c.1869C>G (p.Phe623Leu) n.270C>G c.1746C>G (p.Phe582Leu) | |
| 3 | g.81535260G>T | CA353686127 | GBE1 | c.1869C>A (p.Phe623Leu) n.270C>A c.1746C>A (p.Phe582Leu) | |
| 3 | g.81535261A>C | CA353686130 | GBE1 | c.1868T>G (p.Phe623Cys) n.269T>G c.1745T>G (p.Phe582Cys) | |
| 3 | g.81535261A>G | CA353686129 | GBE1 | c.1868T>C (p.Phe623Ser) n.269T>C c.1745T>C (p.Phe582Ser) | |
| 3 | g.81535261A>T | CA353686128 | GBE1 | c.1868T>A (p.Phe623Tyr) n.269T>A c.1745T>A (p.Phe582Tyr) | |
| 3 | g.81535264del | CA2577825649 | GBE1 | c.1868del (p.Phe623SerfsTer28) n.269del c.1745del (p.Phe582SerfsTer28) | gnomAD v4 |
| 3 | g.81535262A>C | CA353686131 | GBE1 | c.1867T>G (p.Phe623Val) n.268T>G c.1744T>G (p.Phe582Val) | |
| 3 | g.81535262A>G | CA353686132 | GBE1 | c.1867T>C (p.Phe623Leu) n.268T>C c.1744T>C (p.Phe582Leu) | |
| 3 | g.81535262A>T | CA353686133 | GBE1 | c.1867T>A (p.Phe623Ile) n.268T>A c.1744T>A (p.Phe582Ile) | |
| 3 | g.81535262_81535265delinsAAAG | CA1378679236 | GBE1 | c.1864_1867delinsCTTT (p.Leu622=) n.265_268delinsCTTT c.1741_1744delinsCTTT (p.Leu581=) | |
| 3 | g.81535263A>C | CA434494245 | GBE1 | c.1866T>G (p.Leu622=) n.267T>G c.1743T>G (p.Leu581=) | |
| 3 | g.81535263A>G | CA434494244 | GBE1 | c.1866T>C (p.Leu622=) n.267T>C c.1743T>C (p.Leu581=) | |
| 3 | g.81535263A>T | CA434494243 | GBE1 | c.1866T>A (p.Leu622=) n.267T>A c.1743T>A (p.Leu581=) | |
| 3 | g.81535267_81535269del | CA915941513 | GBE1 | c.1864_1866del (p.Leu622del) n.265_267del c.1741_1743del (p.Leu581del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81535264A= | CA1378679237 | GBE1 | c.1865T= (p.Leu622=) n.266T= c.1742T= (p.Leu581=) | |
| 3 | g.81535264A>C | CA353686134 | GBE1 | c.1865T>G (p.Leu622Arg) n.266T>G c.1742T>G (p.Leu581Arg) | |
| 3 | g.81535264A>G | CA353686135 | GBE1 | c.1865T>C (p.Leu622Pro) n.266T>C c.1742T>C (p.Leu581Pro) | dbSNP gnomAD v4 |
| 3 | g.81535264A>T | CA353686136 | GBE1 | c.1865T>A (p.Leu622His) n.266T>A c.1742T>A (p.Leu581His) | |
| 3 | g.81535265G>A | CA353686139 | GBE1 | c.1864C>T (p.Leu622Phe) n.265C>T c.1741C>T (p.Leu581Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535265G>C | CA353686137 | GBE1 | c.1864C>G (p.Leu622Val) n.265C>G c.1741C>G (p.Leu581Val) | |
| 3 | g.81535265G= | CA1378679238 | GBE1 | c.1864C= (p.Leu622=) n.265C= c.1741C= (p.Leu581=) | |
| 3 | g.81535265G>T | CA353686138 | GBE1 | c.1864C>A (p.Leu622Ile) n.265C>A c.1741C>A (p.Leu581Ile) | |
| 3 | g.81535266A= | CA1378679239 | GBE1 | c.1863T= (p.Leu621=) n.264T= c.1740T= (p.Leu580=) | |
| 3 | g.81535266A>C | CA434494246 | GBE1 | c.1863T>G (p.Leu621=) n.264T>G c.1740T>G (p.Leu580=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535266A>G | CA434494247 | GBE1 | c.1863T>C (p.Leu621=) n.264T>C c.1740T>C (p.Leu580=) | |
| 3 | g.81535266A>T | CA434494248 | GBE1 | c.1863T>A (p.Leu621=) n.264T>A c.1740T>A (p.Leu580=) | |
| 3 | g.81535267A>C | CA353686140 | GBE1 | c.1862T>G (p.Leu621Arg) n.263T>G c.1739T>G (p.Leu580Arg) | |
| 3 | g.81535267A>G | CA353686141 | GBE1 | c.1862T>C (p.Leu621Pro) n.263T>C c.1739T>C (p.Leu580Pro) | gnomAD v3 gnomAD v4 |
| 3 | g.81535267A>T | CA353686142 | GBE1 | c.1862T>A (p.Leu621His) n.263T>A c.1739T>A (p.Leu580His) | |
| 3 | g.81535268del | CA2756978691 | GBE1 | c.1861del (p.Leu621PhefsTer30) n.262del c.1738del (p.Leu580PhefsTer30) | |
| 3 | g.81535268G>A | CA353686143 | GBE1 | c.1861C>T (p.Leu621Phe) n.262C>T c.1738C>T (p.Leu580Phe) | |
| 3 | g.81535268G>C | CA353686144 | GBE1 | c.1861C>G (p.Leu621Val) n.262C>G c.1738C>G (p.Leu580Val) | |
| 3 | g.81535268G>T | CA353686145 | GBE1 | c.1861C>A (p.Leu621Ile) n.262C>A c.1738C>A (p.Leu580Ile) | |
| 3 | g.81535269A= | CA1378679240 | GBE1 | c.1860T= (p.Gly620=) n.261T= c.1737T= (p.Gly579=) | |
| 3 | g.81535269A>C | CA434494250 | GBE1 | c.1860T>G (p.Gly620=) n.261T>G c.1737T>G (p.Gly579=) | |
| 3 | g.81535269A>G | CA434494251 | GBE1 | c.1860T>C (p.Gly620=) n.261T>C c.1737T>C (p.Gly579=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535269A>T | CA434494252 | GBE1 | c.1860T>A (p.Gly620=) n.261T>A c.1737T>A (p.Gly579=) | |
| 3 | g.81535270C>A | CA353686146 | GBE1 | c.1859G>T (p.Gly620Val) n.260G>T c.1736G>T (p.Gly579Val) | |
| 3 | g.81535270C>G | CA353686147 | GBE1 | c.1859G>C (p.Gly620Ala) n.260G>C c.1736G>C (p.Gly579Ala) | |
| 3 | g.81535270C>T | CA353686148 | GBE1 | c.1859G>A (p.Gly620Asp) n.260G>A c.1736G>A (p.Gly579Asp) | |
| 3 | g.81535271del | CA2577825655 | GBE1 | c.1859del (p.Gly620ValfsTer?) n.260del c.1736del (p.Gly579ValfsTer?) | |
| 3 | g.81535271C>A | CA353686149 | GBE1 | c.1858G>T (p.Gly620Cys) n.259G>T c.1735G>T (p.Gly579Cys) | |
| 3 | g.81535271C>G | CA353686150 | GBE1 | c.1858G>C (p.Gly620Arg) n.259G>C c.1735G>C (p.Gly579Arg) | |
| 3 | g.81535271C>T | CA353686151 | GBE1 | c.1858G>A (p.Gly620Ser) n.259G>A c.1735G>A (p.Gly579Ser) | |
| 3 | g.81535272T>A | CA434494254 | GBE1 | c.1857A>T (p.Ala619=) n.258A>T c.1734A>T (p.Ala578=) | |
| 3 | g.81535272T>C | CA434494255 | GBE1 | c.1857A>G (p.Ala619=) n.258A>G c.1734A>G (p.Ala578=) | |
| 3 | g.81535272T>G | CA434494256 | GBE1 | c.1857A>C (p.Ala619=) n.258A>C c.1734A>C (p.Ala578=) | |
| 3 | g.81535273G>A | CA353686152 | GBE1 | c.1856C>T (p.Ala619Val) n.257C>T c.1733C>T (p.Ala578Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535273G>C | CA78280195 | GBE1 | c.1856C>G (p.Ala619Gly) n.257C>G c.1733C>G (p.Ala578Gly) | dbSNP gnomAD v4 |
| 3 | g.81535273G= | CA1378679241 | GBE1 | c.1856C= (p.Ala619=) n.257C= c.1733C= (p.Ala578=) | |
| 3 | g.81535273G>T | CA353686153 | GBE1 | c.1856C>A (p.Ala619Glu) n.257C>A c.1733C>A (p.Ala578Glu) | dbSNP gnomAD v3 gnomAD v4 |