| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.32997152C>A | CA352000225 | GLB1 | c.1927G>T (p.Val643Phe) c.1534G>T (p.Val512Phe) c.1837G>T (p.Val613Phe) c.2071G>T (p.Val691Phe) c.1734+16904G>T (n.1734+16904G>T) | gnomAD v4 |
| 3 | g.32997152C>G | CA352000229 | GLB1 | c.1927G>C (p.Val643Leu) c.1534G>C (p.Val512Leu) c.1837G>C (p.Val613Leu) c.2071G>C (p.Val691Leu) c.1734+16904G>C (n.1734+16904G>C) | |
| 3 | g.32997152C>T | CA352000227 | GLB1 | c.1927G>A (p.Val643Ile) c.1534G>A (p.Val512Ile) c.1837G>A (p.Val613Ile) c.2071G>A (p.Val691Ile) c.1734+16904G>A (n.1734+16904G>A) | |
| 3 | g.32997153T>A | CA432960219 | GLB1 | c.1926A>T (p.Pro642=) c.1533A>T (p.Pro511=) c.1836A>T (p.Pro612=) c.2070A>T (p.Pro690=) c.1734+16903A>T (n.1734+16903A>T) | |
| 3 | g.32997153T>C | CA432960220 | GLB1 | c.1926A>G (p.Pro642=) c.1533A>G (p.Pro511=) c.1836A>G (p.Pro612=) c.2070A>G (p.Pro690=) c.1734+16903A>G (n.1734+16903A>G) | |
| 3 | g.32997153T>G | CA432960218 | GLB1 | c.1926A>C (p.Pro642=) c.1533A>C (p.Pro511=) c.1836A>C (p.Pro612=) c.2070A>C (p.Pro690=) c.1734+16903A>C (n.1734+16903A>C) | |
| 3 | g.32997154G>A | CA352000231 | GLB1 | c.1925C>T (p.Pro642Leu) c.1532C>T (p.Pro511Leu) c.1835C>T (p.Pro612Leu) c.2069C>T (p.Pro690Leu) c.1734+16902C>T (n.1734+16902C>T) | |
| 3 | g.32997154G>C | CA352000235 | GLB1 | c.1925C>G (p.Pro642Arg) c.1532C>G (p.Pro511Arg) c.1835C>G (p.Pro612Arg) c.2069C>G (p.Pro690Arg) c.1734+16902C>G (n.1734+16902C>G) | |
| 3 | g.32997154G>T | CA352000233 | GLB1 | c.1925C>A (p.Pro642Gln) c.1532C>A (p.Pro511Gln) c.1835C>A (p.Pro612Gln) c.2069C>A (p.Pro690Gln) c.1734+16902C>A (n.1734+16902C>A) | |
| 3 | g.32997155del | CA2664926657 | GLB1 | c.1925del (p.Pro642GlnfsTer7) c.1532del (p.Pro511GlnfsTer7) c.1835del (p.Pro612GlnfsTer7) c.2069del (p.Pro690GlnfsTer7) c.1734+16902del (n.1734+16902del) | gnomAD v4 |
| 3 | g.32997155G>A | CA72667151 | GLB1 | c.1924C>T (p.Pro642Ser) c.1531C>T (p.Pro511Ser) c.1834C>T (p.Pro612Ser) c.2068C>T (p.Pro690Ser) c.1734+16901C>T (n.1734+16901C>T) | dbSNP gnomAD v4 |
| 3 | g.32997155G>C | CA352000241 | GLB1 | c.1924C>G (p.Pro642Ala) c.1531C>G (p.Pro511Ala) c.1834C>G (p.Pro612Ala) c.2068C>G (p.Pro690Ala) c.1734+16901C>G (n.1734+16901C>G) | |
| 3 | g.32997155G= | CA1355976920 | GLB1 | c.1924C= (p.Pro642=) c.1531C= (p.Pro511=) c.1834C= (p.Pro612=) c.2068C= (p.Pro690=) c.1734+16901C= (n.1734+16901C=) | |
| 3 | g.32997155G>T | CA352000239 | GLB1 | c.1924C>A (p.Pro642Thr) c.1531C>A (p.Pro511Thr) c.1834C>A (p.Pro612Thr) c.2068C>A (p.Pro690Thr) c.1734+16901C>A (n.1734+16901C>A) | gnomAD v4 |
| 3 | g.32997156C>A | CA352000243 | GLB1 | c.1923G>T (p.Arg641Ser) c.1530G>T (p.Arg510Ser) c.1833G>T (p.Arg611Ser) c.2067G>T (p.Arg689Ser) c.1734+16900G>T (n.1734+16900G>T) | |
| 3 | g.32997156C>G | CA352000246 | GLB1 | c.1923G>C (p.Arg641Ser) c.1530G>C (p.Arg510Ser) c.1833G>C (p.Arg611Ser) c.2067G>C (p.Arg689Ser) c.1734+16900G>C (n.1734+16900G>C) | |
| 3 | g.32997156C>T | CA432960224 | GLB1 | c.1923G>A (p.Arg641=) c.1530G>A (p.Arg510=) c.1833G>A (p.Arg611=) c.2067G>A (p.Arg689=) c.1734+16900G>A (n.1734+16900G>A) | |
| 3 | g.32997157C>A | CA352000247 | GLB1 | c.1922G>T (p.Arg641Met) c.1529G>T (p.Arg510Met) c.1832G>T (p.Arg611Met) c.2066G>T (p.Arg689Met) c.1734+16899G>T (n.1734+16899G>T) | |
| 3 | g.32997157C>G | CA352000251 | GLB1 | c.1922G>C (p.Arg641Thr) c.1529G>C (p.Arg510Thr) c.1832G>C (p.Arg611Thr) c.2066G>C (p.Arg689Thr) c.1734+16899G>C (n.1734+16899G>C) | |
| 3 | g.32997157C>T | CA352000249 | GLB1 | c.1922G>A (p.Arg641Lys) c.1529G>A (p.Arg510Lys) c.1832G>A (p.Arg611Lys) c.2066G>A (p.Arg689Lys) c.1734+16899G>A (n.1734+16899G>A) | |
| 3 | g.32997158T>A | CA352000253 | GLB1 | c.1921A>T (p.Arg641Trp) c.1528A>T (p.Arg510Trp) c.1831A>T (p.Arg611Trp) c.2065A>T (p.Arg689Trp) c.1734+16898A>T (n.1734+16898A>T) | |
| 3 | g.32997158T>C | CA352000255 | GLB1 | c.1921A>G (p.Arg641Gly) c.1528A>G (p.Arg510Gly) c.1831A>G (p.Arg611Gly) c.2065A>G (p.Arg689Gly) c.1734+16898A>G (n.1734+16898A>G) | gnomAD v4 |
| 3 | g.32997158T>G | CA432960226 | GLB1 | c.1921A>C (p.Arg641=) c.1528A>C (p.Arg510=) c.1831A>C (p.Arg611=) c.2065A>C (p.Arg689=) c.1734+16898A>C (n.1734+16898A>C) | |
| 3 | g.32997159G>A | CA432960228 | GLB1 | c.1920C>T (p.Asp640=) c.1527C>T (p.Asp509=) c.1830C>T (p.Asp610=) c.2064C>T (p.Asp688=) c.1734+16897C>T (n.1734+16897C>T) | |
| 3 | g.32997159G>C | CA352000257 | GLB1 | c.1920C>G (p.Asp640Glu) c.1527C>G (p.Asp509Glu) c.1830C>G (p.Asp610Glu) c.2064C>G (p.Asp688Glu) c.1734+16897C>G (n.1734+16897C>G) | |
| 3 | g.32997159G>T | CA352000259 | GLB1 | c.1920C>A (p.Asp640Glu) c.1527C>A (p.Asp509Glu) c.1830C>A (p.Asp610Glu) c.2064C>A (p.Asp688Glu) c.1734+16897C>A (n.1734+16897C>A) | |
| 3 | g.32997160T>A | CA352000261 | GLB1 | c.1919A>T (p.Asp640Val) c.1526A>T (p.Asp509Val) c.1829A>T (p.Asp610Val) c.2063A>T (p.Asp688Val) c.1734+16896A>T (n.1734+16896A>T) | gnomAD v4 |
| 3 | g.32997160T>C | CA352000263 | GLB1 | c.1919A>G (p.Asp640Gly) c.1526A>G (p.Asp509Gly) c.1829A>G (p.Asp610Gly) c.2063A>G (p.Asp688Gly) c.1734+16896A>G (n.1734+16896A>G) | gnomAD v4 |
| 3 | g.32997160T>G | CA352000265 | GLB1 | c.1919A>C (p.Asp640Ala) c.1526A>C (p.Asp509Ala) c.1829A>C (p.Asp610Ala) c.2063A>C (p.Asp688Ala) c.1734+16896A>C (n.1734+16896A>C) | |
| 3 | g.32997161C>A | CA220719 | GLB1 | c.1918G>T (p.Asp640Tyr) c.1525G>T (p.Asp509Tyr) c.1828G>T (p.Asp610Tyr) c.2062G>T (p.Asp688Tyr) c.1734+16895G>T (n.1734+16895G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997161C= | CA1355976921 | GLB1 | c.1918G= (p.Asp640=) c.1525G= (p.Asp509=) c.1828G= (p.Asp610=) c.2062G= (p.Asp688=) c.1734+16895G= (n.1734+16895G=) | |
| 3 | g.32997161C>G | CA352000267 | GLB1 | c.1918G>C (p.Asp640His) c.1525G>C (p.Asp509His) c.1828G>C (p.Asp610His) c.2062G>C (p.Asp688His) c.1734+16895G>C (n.1734+16895G>C) | |
| 3 | g.32997161C>T | CA352000268 | GLB1 | c.1918G>A (p.Asp640Asn) c.1525G>A (p.Asp509Asn) c.1828G>A (p.Asp610Asn) c.2062G>A (p.Asp688Asn) c.1734+16895G>A (n.1734+16895G>A) | |
| 3 | g.32997162C>A | CA432960232 | GLB1 | c.1917G>T (p.Val639=) c.1524G>T (p.Val508=) c.1827G>T (p.Val609=) c.2061G>T (p.Val687=) c.1734+16894G>T (n.1734+16894G>T) | |
| 3 | g.32997162C>G | CA432960233 | GLB1 | c.1917G>C (p.Val639=) c.1524G>C (p.Val508=) c.1827G>C (p.Val609=) c.2061G>C (p.Val687=) c.1734+16894G>C (n.1734+16894G>C) | ClinVar gnomAD v4 |
| 3 | g.32997162C>T | CA432960234 | GLB1 | c.1917G>A (p.Val639=) c.1524G>A (p.Val508=) c.1827G>A (p.Val609=) c.2061G>A (p.Val687=) c.1734+16894G>A (n.1734+16894G>A) | |
| 3 | g.32997163A>C | CA352000271 | GLB1 | c.1916T>G (p.Val639Gly) c.1523T>G (p.Val508Gly) c.1826T>G (p.Val609Gly) c.2060T>G (p.Val687Gly) c.1734+16893T>G (n.1734+16893T>G) | |
| 3 | g.32997163A>G | CA352000273 | GLB1 | c.1916T>C (p.Val639Ala) c.1523T>C (p.Val508Ala) c.1826T>C (p.Val609Ala) c.2060T>C (p.Val687Ala) c.1734+16893T>C (n.1734+16893T>C) | |
| 3 | g.32997163A>T | CA352000275 | GLB1 | c.1916T>A (p.Val639Glu) c.1523T>A (p.Val508Glu) c.1826T>A (p.Val609Glu) c.2060T>A (p.Val687Glu) c.1734+16893T>A (n.1734+16893T>A) | |
| 3 | g.32997164C>A | CA352000280 | GLB1 | c.1915G>T (p.Val639Leu) c.1522G>T (p.Val508Leu) c.1825G>T (p.Val609Leu) c.2059G>T (p.Val687Leu) c.1734+16892G>T (n.1734+16892G>T) | |
| 3 | g.32997164C= | CA1355976922 | GLB1 | c.1915G= (p.Val639=) c.1522G= (p.Val508=) c.1825G= (p.Val609=) c.2059G= (p.Val687=) c.1734+16892G= (n.1734+16892G=) | |
| 3 | g.32997164C>G | CA352000276 | GLB1 | c.1915G>C (p.Val639Leu) c.1522G>C (p.Val508Leu) c.1825G>C (p.Val609Leu) c.2059G>C (p.Val687Leu) c.1734+16892G>C (n.1734+16892G>C) | |
| 3 | g.32997164C>T | CA352000278 | GLB1 | c.1915G>A (p.Val639Met) c.1522G>A (p.Val508Met) c.1825G>A (p.Val609Met) c.2059G>A (p.Val687Met) c.1734+16892G>A (n.1734+16892G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997165G>A | CA72667156 | GLB1 | c.1914C>T (p.Phe638=) c.1521C>T (p.Phe507=) c.1824C>T (p.Phe608=) c.2058C>T (p.Phe686=) c.1734+16891C>T (n.1734+16891C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997165G>C | CA352000283 | GLB1 | c.1914C>G (p.Phe638Leu) c.1521C>G (p.Phe507Leu) c.1824C>G (p.Phe608Leu) c.2058C>G (p.Phe686Leu) c.1734+16891C>G (n.1734+16891C>G) | |
| 3 | g.32997165G= | CA1355976923 | GLB1 | c.1914C= (p.Phe638=) c.1521C= (p.Phe507=) c.1824C= (p.Phe608=) c.2058C= (p.Phe686=) c.1734+16891C= (n.1734+16891C=) | |
| 3 | g.32997165G>T | CA352000284 | GLB1 | c.1914C>A (p.Phe638Leu) c.1521C>A (p.Phe507Leu) c.1824C>A (p.Phe608Leu) c.2058C>A (p.Phe686Leu) c.1734+16891C>A (n.1734+16891C>A) | |
| 3 | g.32997166A>C | CA352000286 | GLB1 | c.1913T>G (p.Phe638Cys) c.1520T>G (p.Phe507Cys) c.1823T>G (p.Phe608Cys) c.2057T>G (p.Phe686Cys) c.1734+16890T>G (n.1734+16890T>G) | |
| 3 | g.32997166A>G | CA352000288 | GLB1 | c.1913T>C (p.Phe638Ser) c.1520T>C (p.Phe507Ser) c.1823T>C (p.Phe608Ser) c.2057T>C (p.Phe686Ser) c.1734+16890T>C (n.1734+16890T>C) | |
| 3 | g.32997166A>T | CA352000290 | GLB1 | c.1913T>A (p.Phe638Tyr) c.1520T>A (p.Phe507Tyr) c.1823T>A (p.Phe608Tyr) c.2057T>A (p.Phe686Tyr) c.1734+16890T>A (n.1734+16890T>A) | |
| 3 | g.32997167A>C | CA352000292 | GLB1 | c.1912T>G (p.Phe638Val) c.1519T>G (p.Phe507Val) c.1822T>G (p.Phe608Val) c.2056T>G (p.Phe686Val) c.1734+16889T>G (n.1734+16889T>G) | |
| 3 | g.32997167A>G | CA352000293 | GLB1 | c.1912T>C (p.Phe638Leu) c.1519T>C (p.Phe507Leu) c.1822T>C (p.Phe608Leu) c.2056T>C (p.Phe686Leu) c.1734+16889T>C (n.1734+16889T>C) | |
| 3 | g.32997167A>T | CA352000294 | GLB1 | c.1912T>A (p.Phe638Ile) c.1519T>A (p.Phe507Ile) c.1822T>A (p.Phe608Ile) c.2056T>A (p.Phe686Ile) c.1734+16889T>A (n.1734+16889T>A) | |
| 3 | g.32997168C>A | CA432960238 | GLB1 | c.1911G>T (p.Thr637=) c.1518G>T (p.Thr506=) c.1821G>T (p.Thr607=) c.2055G>T (p.Thr685=) c.1734+16888G>T (n.1734+16888G>T) | ClinVar COSMIC |
| 3 | g.32997168C= | CA1355976924 | GLB1 | c.1911G= (p.Thr637=) c.1518G= (p.Thr506=) c.1821G= (p.Thr607=) c.2055G= (p.Thr685=) c.1734+16888G= (n.1734+16888G=) | |
| 3 | g.32997168C>G | CA432960239 | GLB1 | c.1911G>C (p.Thr637=) c.1518G>C (p.Thr506=) c.1821G>C (p.Thr607=) c.2055G>C (p.Thr685=) c.1734+16888G>C (n.1734+16888G>C) | |
| 3 | g.32997168C>T | CA2299273 | GLB1 | c.1911G>A (p.Thr637=) c.1518G>A (p.Thr506=) c.1821G>A (p.Thr607=) c.2055G>A (p.Thr685=) c.1734+16888G>A (n.1734+16888G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.32997169G>A | CA2299274 | GLB1 | c.1910C>T (p.Thr637Met) c.1517C>T (p.Thr506Met) c.1820C>T (p.Thr607Met) c.2054C>T (p.Thr685Met) c.1734+16887C>T (n.1734+16887C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997169G>C | CA352000300 | GLB1 | c.1910C>G (p.Thr637Arg) c.1517C>G (p.Thr506Arg) c.1820C>G (p.Thr607Arg) c.2054C>G (p.Thr685Arg) c.1734+16887C>G (n.1734+16887C>G) | |
| 3 | g.32997169G= | CA1355976925 | GLB1 | c.1910C= (p.Thr637=) c.1517C= (p.Thr506=) c.1820C= (p.Thr607=) c.2054C= (p.Thr685=) c.1734+16887C= (n.1734+16887C=) | |
| 3 | g.32997169G>T | CA352000298 | GLB1 | c.1910C>A (p.Thr637Lys) c.1517C>A (p.Thr506Lys) c.1820C>A (p.Thr607Lys) c.2054C>A (p.Thr685Lys) c.1734+16887C>A (n.1734+16887C>A) | |
| 3 | g.32997170T>A | CA352000301 | GLB1 | c.1909A>T (p.Thr637Ser) c.1516A>T (p.Thr506Ser) c.1819A>T (p.Thr607Ser) c.2053A>T (p.Thr685Ser) c.1734+16886A>T (n.1734+16886A>T) | |
| 3 | g.32997170T>C | CA352000303 | GLB1 | c.1909A>G (p.Thr637Ala) c.1516A>G (p.Thr506Ala) c.1819A>G (p.Thr607Ala) c.2053A>G (p.Thr685Ala) c.1734+16886A>G (n.1734+16886A>G) | |
| 3 | g.32997170T>G | CA352000305 | GLB1 | c.1909A>C (p.Thr637Pro) c.1516A>C (p.Thr506Pro) c.1819A>C (p.Thr607Pro) c.2053A>C (p.Thr685Pro) c.1734+16886A>C (n.1734+16886A>C) | |
| 3 | g.32997171C>A | CA432960245 | GLB1 | c.1908G>T (p.Val636=) c.1515G>T (p.Val505=) c.1818G>T (p.Val606=) c.2052G>T (p.Val684=) c.1734+16885G>T (n.1734+16885G>T) | |
| 3 | g.32997171C>G | CA432960246 | GLB1 | c.1908G>C (p.Val636=) c.1515G>C (p.Val505=) c.1818G>C (p.Val606=) c.2052G>C (p.Val684=) c.1734+16885G>C (n.1734+16885G>C) | |
| 3 | g.32997171C>T | CA432960247 | GLB1 | c.1908G>A (p.Val636=) c.1515G>A (p.Val505=) c.1818G>A (p.Val606=) c.2052G>A (p.Val684=) c.1734+16885G>A (n.1734+16885G>A) | |
| 3 | g.32997172A>C | CA352000308 | GLB1 | c.1907T>G (p.Val636Gly) c.1514T>G (p.Val505Gly) c.1817T>G (p.Val606Gly) c.2051T>G (p.Val684Gly) c.1734+16884T>G (n.1734+16884T>G) | |
| 3 | g.32997172A>G | CA352000310 | GLB1 | c.1907T>C (p.Val636Ala) c.1514T>C (p.Val505Ala) c.1817T>C (p.Val606Ala) c.2051T>C (p.Val684Ala) c.1734+16884T>C (n.1734+16884T>C) | |
| 3 | g.32997172A>T | CA352000312 | GLB1 | c.1907T>A (p.Val636Glu) c.1514T>A (p.Val505Glu) c.1817T>A (p.Val606Glu) c.2051T>A (p.Val684Glu) c.1734+16884T>A (n.1734+16884T>A) | |
| 3 | g.32997173C>A | CA352000314 | GLB1 | c.1906G>T (p.Val636Leu) c.1513G>T (p.Val505Leu) c.1816G>T (p.Val606Leu) c.2050G>T (p.Val684Leu) c.1734+16883G>T (n.1734+16883G>T) | |
| 3 | g.32997173C= | CA1355976926 | GLB1 | c.1906G= (p.Val636=) c.1513G= (p.Val505=) c.1816G= (p.Val606=) c.2050G= (p.Val684=) c.1734+16883G= (n.1734+16883G=) | |
| 3 | g.32997173C>G | CA352000317 | GLB1 | c.1906G>C (p.Val636Leu) c.1513G>C (p.Val505Leu) c.1816G>C (p.Val606Leu) c.2050G>C (p.Val684Leu) c.1734+16883G>C (n.1734+16883G>C) | |
| 3 | g.32997173C>T | CA352000315 | GLB1 | c.1906G>A (p.Val636Met) c.1513G>A (p.Val505Met) c.1816G>A (p.Val606Met) c.2050G>A (p.Val684Met) c.1734+16883G>A (n.1734+16883G>A) | dbSNP |
| 3 | g.32997174A= | CA1355976927 | GLB1 | c.1905T= (p.Ala635=) c.1512T= (p.Ala504=) c.1815T= (p.Ala605=) c.2049T= (p.Ala683=) c.1734+16882T= (n.1734+16882T=) | |
| 3 | g.32997174A>C | CA432960252 | GLB1 | c.1905T>G (p.Ala635=) c.1512T>G (p.Ala504=) c.1815T>G (p.Ala605=) c.2049T>G (p.Ala683=) c.1734+16882T>G (n.1734+16882T>G) | |
| 3 | g.32997174A>G | CA72667162 | GLB1 | c.1905T>C (p.Ala635=) c.1512T>C (p.Ala504=) c.1815T>C (p.Ala605=) c.2049T>C (p.Ala683=) c.1734+16882T>C (n.1734+16882T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997174A>T | CA432960251 | GLB1 | c.1905T>A (p.Ala635=) c.1512T>A (p.Ala504=) c.1815T>A (p.Ala605=) c.2049T>A (p.Ala683=) c.1734+16882T>A (n.1734+16882T>A) | |
| 3 | g.32997175G>A | CA2299275 | GLB1 | c.1904C>T (p.Ala635Val) c.1511C>T (p.Ala504Val) c.1814C>T (p.Ala605Val) c.2048C>T (p.Ala683Val) c.1734+16881C>T (n.1734+16881C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997175G>C | CA352000322 | GLB1 | c.1904C>G (p.Ala635Gly) c.1511C>G (p.Ala504Gly) c.1814C>G (p.Ala605Gly) c.2048C>G (p.Ala683Gly) c.1734+16881C>G (n.1734+16881C>G) | |
| 3 | g.32997175G= | CA1355976928 | GLB1 | c.1904C= (p.Ala635=) c.1511C= (p.Ala504=) c.1814C= (p.Ala605=) c.2048C= (p.Ala683=) c.1734+16881C= (n.1734+16881C=) | |
| 3 | g.32997175G>T | CA352000323 | GLB1 | c.1904C>A (p.Ala635Asp) c.1511C>A (p.Ala504Asp) c.1814C>A (p.Ala605Asp) c.2048C>A (p.Ala683Asp) c.1734+16881C>A (n.1734+16881C>A) | |
| 3 | g.32997176C>A | CA352000325 | GLB1 | c.1903G>T (p.Ala635Ser) c.1510G>T (p.Ala504Ser) c.1813G>T (p.Ala605Ser) c.2047G>T (p.Ala683Ser) c.1734+16880G>T (n.1734+16880G>T) | ClinVar |
| 3 | g.32997176C= | CA1355976930 | GLB1 | c.1903G= (p.Ala635=) c.1510G= (p.Ala504=) c.1813G= (p.Ala605=) c.2047G= (p.Ala683=) c.1734+16880G= (n.1734+16880G=) | |
| 3 | g.32997176C>G | CA352000328 | GLB1 | c.1903G>C (p.Ala635Pro) c.1510G>C (p.Ala504Pro) c.1813G>C (p.Ala605Pro) c.2047G>C (p.Ala683Pro) c.1734+16880G>C (n.1734+16880G>C) | ClinVar dbSNP |
| 3 | g.32997176C>T | CA352000326 | GLB1 | c.1903G>A (p.Ala635Thr) c.1510G>A (p.Ala504Thr) c.1813G>A (p.Ala605Thr) c.2047G>A (p.Ala683Thr) c.1734+16880G>A (n.1734+16880G>A) | dbSNP |
| 3 | g.32997176_32997177delinsCA | CA1355976929 | GLB1 | c.1902_1903delinsTG (p.Cys634=) c.1509_1510delinsTG (p.Cys503=) c.1812_1813delinsTG (p.Cys604=) c.2046_2047delinsTG (p.Cys682=) c.1734+16879_1734+16880delinsTG (n.1734+16879_1734+16880delinsTG) | |
| 3 | g.32997177del | CA906337923 | GLB1 | c.1902del (p.Cys634TrpfsTer3) c.1509del (p.Cys503TrpfsTer3) c.1812del (p.Cys604TrpfsTer3) c.2046del (p.Cys682TrpfsTer3) c.1734+16879del (n.1734+16879del) | dbSNP gnomAD v4 |
| 3 | g.32997177A>C | CA352000330 | GLB1 | c.1902T>G (p.Cys634Trp) c.1509T>G (p.Cys503Trp) c.1812T>G (p.Cys604Trp) c.2046T>G (p.Cys682Trp) c.1734+16879T>G (n.1734+16879T>G) | |
| 3 | g.32997177A>G | CA432960253 | GLB1 | c.1902T>C (p.Cys634=) c.1509T>C (p.Cys503=) c.1812T>C (p.Cys604=) c.2046T>C (p.Cys682=) c.1734+16879T>C (n.1734+16879T>C) | |
| 3 | g.32997177A>T | CA352000332 | GLB1 | c.1902T>A (p.Cys634Ter) c.1509T>A (p.Cys503Ter) c.1812T>A (p.Cys604Ter) c.2046T>A (p.Cys682Ter) c.1734+16879T>A (n.1734+16879T>A) | |
| 3 | g.32997178C>A | CA352000334 | GLB1 | c.1901G>T (p.Cys634Phe) c.1508G>T (p.Cys503Phe) c.1811G>T (p.Cys604Phe) c.2045G>T (p.Cys682Phe) c.1734+16878G>T (n.1734+16878G>T) | |
| 3 | g.32997178C>G | CA352000336 | GLB1 | c.1901G>C (p.Cys634Ser) c.1508G>C (p.Cys503Ser) c.1811G>C (p.Cys604Ser) c.2045G>C (p.Cys682Ser) c.1734+16878G>C (n.1734+16878G>C) | |
| 3 | g.32997178C>T | CA352000337 | GLB1 | c.1901G>A (p.Cys634Tyr) c.1508G>A (p.Cys503Tyr) c.1811G>A (p.Cys604Tyr) c.2045G>A (p.Cys682Tyr) c.1734+16878G>A (n.1734+16878G>A) | gnomAD v4 |
| 3 | g.32997179A>C | CA352000339 | GLB1 | c.1900T>G (p.Cys634Gly) c.1507T>G (p.Cys503Gly) c.1810T>G (p.Cys604Gly) c.2044T>G (p.Cys682Gly) c.1734+16877T>G (n.1734+16877T>G) | |
| 3 | g.32997179A>G | CA352000341 | GLB1 | c.1900T>C (p.Cys634Arg) c.1507T>C (p.Cys503Arg) c.1810T>C (p.Cys604Arg) c.2044T>C (p.Cys682Arg) c.1734+16877T>C (n.1734+16877T>C) | |
| 3 | g.32997179A>T | CA352000343 | GLB1 | c.1900T>A (p.Cys634Ser) c.1507T>A (p.Cys503Ser) c.1810T>A (p.Cys604Ser) c.2044T>A (p.Cys682Ser) c.1734+16877T>A (n.1734+16877T>A) | |
| 3 | g.32997180T>A | CA432960257 | GLB1 | c.1899A>T (p.Leu633=) c.1506A>T (p.Leu502=) c.1809A>T (p.Leu603=) c.2043A>T (p.Leu681=) c.1734+16876A>T (n.1734+16876A>T) | ClinVar gnomAD v4 |
| 3 | g.32997180T>C | CA2299276 | GLB1 | c.1899A>G (p.Leu633=) c.1506A>G (p.Leu502=) c.1809A>G (p.Leu603=) c.2043A>G (p.Leu681=) c.1734+16876A>G (n.1734+16876A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997180T>G | CA432960258 | GLB1 | c.1899A>C (p.Leu633=) c.1506A>C (p.Leu502=) c.1809A>C (p.Leu603=) c.2043A>C (p.Leu681=) c.1734+16876A>C (n.1734+16876A>C) | gnomAD v4 |
| 3 | g.32997180T= | CA1355976931 | GLB1 | c.1899A= (p.Leu633=) c.1506A= (p.Leu502=) c.1809A= (p.Leu603=) c.2043A= (p.Leu681=) c.1734+16876A= (n.1734+16876A=) | |
| 3 | g.32997181A>C | CA352000346 | GLB1 | c.1898T>G (p.Leu633Arg) c.1505T>G (p.Leu502Arg) c.1808T>G (p.Leu603Arg) c.2042T>G (p.Leu681Arg) c.1734+16875T>G (n.1734+16875T>G) | |
| 3 | g.32997181A>G | CA352000348 | GLB1 | c.1898T>C (p.Leu633Pro) c.1505T>C (p.Leu502Pro) c.1808T>C (p.Leu603Pro) c.2042T>C (p.Leu681Pro) c.1734+16875T>C (n.1734+16875T>C) | |
| 3 | g.32997181A>T | CA352000353 | GLB1 | c.1898T>A (p.Leu633Gln) c.1505T>A (p.Leu502Gln) c.1808T>A (p.Leu603Gln) c.2042T>A (p.Leu681Gln) c.1734+16875T>A (n.1734+16875T>A) | |
| 3 | g.32997182G>A | CA432960260 | GLB1 | c.1897C>T (p.Leu633=) c.1504C>T (p.Leu502=) c.1807C>T (p.Leu603=) c.2041C>T (p.Leu681=) c.1734+16874C>T (n.1734+16874C>T) | |
| 3 | g.32997182G>C | CA352000355 | GLB1 | c.1897C>G (p.Leu633Val) c.1504C>G (p.Leu502Val) c.1807C>G (p.Leu603Val) c.2041C>G (p.Leu681Val) c.1734+16874C>G (n.1734+16874C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997182G= | CA1355976932 | GLB1 | c.1897C= (p.Leu633=) c.1504C= (p.Leu502=) c.1807C= (p.Leu603=) c.2041C= (p.Leu681=) c.1734+16874C= (n.1734+16874C=) | |
| 3 | g.32997182G>T | CA352000357 | GLB1 | c.1897C>A (p.Leu633Ile) c.1504C>A (p.Leu502Ile) c.1807C>A (p.Leu603Ile) c.2041C>A (p.Leu681Ile) c.1734+16874C>A (n.1734+16874C>A) | |
| 3 | g.32997183T>A | CA352000359 | GLB1 | c.1896A>T (p.Glu632Asp) c.1503A>T (p.Glu501Asp) c.1806A>T (p.Glu602Asp) c.2040A>T (p.Glu680Asp) c.1734+16873A>T (n.1734+16873A>T) | |
| 3 | g.32997183T>C | CA2299277 | GLB1 | c.1896A>G (p.Glu632=) c.1503A>G (p.Glu501=) c.1806A>G (p.Glu602=) c.2040A>G (p.Glu680=) c.1734+16873A>G (n.1734+16873A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997183T>G | CA352000361 | GLB1 | c.1896A>C (p.Glu632Asp) c.1503A>C (p.Glu501Asp) c.1806A>C (p.Glu602Asp) c.2040A>C (p.Glu680Asp) c.1734+16873A>C (n.1734+16873A>C) | |
| 3 | g.32997183T= | CA1355976933 | GLB1 | c.1896A= (p.Glu632=) c.1503A= (p.Glu501=) c.1806A= (p.Glu602=) c.2040A= (p.Glu680=) c.1734+16873A= (n.1734+16873A=) | |
| 3 | g.32997184T>A | CA352000365 | GLB1 | c.1895A>T (p.Glu632Val) c.1502A>T (p.Glu501Val) c.1805A>T (p.Glu602Val) c.2039A>T (p.Glu680Val) c.1734+16872A>T (n.1734+16872A>T) | |
| 3 | g.32997184T>C | CA352000366 | GLB1 | c.1895A>G (p.Glu632Gly) c.1502A>G (p.Glu501Gly) c.1805A>G (p.Glu602Gly) c.2039A>G (p.Glu680Gly) c.1734+16872A>G (n.1734+16872A>G) | gnomAD v4 |
| 3 | g.32997184T>G | CA352000367 | GLB1 | c.1895A>C (p.Glu632Ala) c.1502A>C (p.Glu501Ala) c.1805A>C (p.Glu602Ala) c.2039A>C (p.Glu680Ala) c.1734+16872A>C (n.1734+16872A>C) | |
| 3 | g.32997185C>A | CA352000369 | GLB1 | c.1894G>T (p.Glu632Ter) c.1501G>T (p.Glu501Ter) c.1804G>T (p.Glu602Ter) c.2038G>T (p.Glu680Ter) c.1734+16871G>T (n.1734+16871G>T) | |
| 3 | g.32997185C= | CA1355976934 | GLB1 | c.1894G= (p.Glu632=) c.1501G= (p.Glu501=) c.1804G= (p.Glu602=) c.2038G= (p.Glu680=) c.1734+16871G= (n.1734+16871G=) | |
| 3 | g.32997185C>G | CA72667171 | GLB1 | c.1894G>C (p.Glu632Gln) c.1501G>C (p.Glu501Gln) c.1804G>C (p.Glu602Gln) c.2038G>C (p.Glu680Gln) c.1734+16871G>C (n.1734+16871G>C) | dbSNP |
| 3 | g.32997185C>T | CA352000372 | GLB1 | c.1894G>A (p.Glu632Lys) c.1501G>A (p.Glu501Lys) c.1804G>A (p.Glu602Lys) c.2038G>A (p.Glu680Lys) c.1734+16871G>A (n.1734+16871G>A) | dbSNP |
| 3 | g.32997186T>A | CA432960265 | GLB1 | c.1893A>T (p.Pro631=) c.1500A>T (p.Pro500=) c.1803A>T (p.Pro601=) c.2037A>T (p.Pro679=) c.1734+16870A>T (n.1734+16870A>T) | |
| 3 | g.32997186T>C | CA432960266 | GLB1 | c.1893A>G (p.Pro631=) c.1500A>G (p.Pro500=) c.1803A>G (p.Pro601=) c.2037A>G (p.Pro679=) c.1734+16870A>G (n.1734+16870A>G) | |
| 3 | g.32997186T>G | CA432960267 | GLB1 | c.1893A>C (p.Pro631=) c.1500A>C (p.Pro500=) c.1803A>C (p.Pro601=) c.2037A>C (p.Pro679=) c.1734+16870A>C (n.1734+16870A>C) | gnomAD v4 |
| 3 | g.32997187G>A | CA352000374 | GLB1 | c.1892C>T (p.Pro631Leu) c.1499C>T (p.Pro500Leu) c.1802C>T (p.Pro601Leu) c.2036C>T (p.Pro679Leu) c.1734+16869C>T (n.1734+16869C>T) | |
| 3 | g.32997187G>C | CA352000376 | GLB1 | c.1892C>G (p.Pro631Arg) c.1499C>G (p.Pro500Arg) c.1802C>G (p.Pro601Arg) c.2036C>G (p.Pro679Arg) c.1734+16869C>G (n.1734+16869C>G) | |
| 3 | g.32997187G>T | CA352000377 | GLB1 | c.1892C>A (p.Pro631Gln) c.1499C>A (p.Pro500Gln) c.1802C>A (p.Pro601Gln) c.2036C>A (p.Pro679Gln) c.1734+16869C>A (n.1734+16869C>A) | |
| 3 | g.32997188del | CA2755763345 | GLB1 | c.1892del (p.Pro631GlnfsTer6) c.1499del (p.Pro500GlnfsTer6) c.1802del (p.Pro601GlnfsTer6) c.2036del (p.Pro679GlnfsTer6) c.1734+16869del (n.1734+16869del) | |
| 3 | g.32997188G>A | CA352000379 | GLB1 | c.1891C>T (p.Pro631Ser) c.1498C>T (p.Pro500Ser) c.1801C>T (p.Pro601Ser) c.2035C>T (p.Pro679Ser) c.1734+16868C>T (n.1734+16868C>T) | gnomAD v4 |
| 3 | g.32997188G>C | CA352000380 | GLB1 | c.1891C>G (p.Pro631Ala) c.1498C>G (p.Pro500Ala) c.1801C>G (p.Pro601Ala) c.2035C>G (p.Pro679Ala) c.1734+16868C>G (n.1734+16868C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.32997188G= | CA1355976935 | GLB1 | c.1891C= (p.Pro631=) c.1498C= (p.Pro500=) c.1801C= (p.Pro601=) c.2035C= (p.Pro679=) c.1734+16868C= (n.1734+16868C=) | |
| 3 | g.32997188G>T | CA352000382 | GLB1 | c.1891C>A (p.Pro631Thr) c.1498C>A (p.Pro500Thr) c.1801C>A (p.Pro601Thr) c.2035C>A (p.Pro679Thr) c.1734+16868C>A (n.1734+16868C>A) | gnomAD v4 |
| 3 | g.32997189A>C | CA352000386 | GLB1 | c.1890T>G (p.Asp630Glu) c.1497T>G (p.Asp499Glu) c.1800T>G (p.Asp600Glu) c.2034T>G (p.Asp678Glu) c.1734+16867T>G (n.1734+16867T>G) | |
| 3 | g.32997189A>G | CA432960273 | GLB1 | c.1890T>C (p.Asp630=) c.1497T>C (p.Asp499=) c.1800T>C (p.Asp600=) c.2034T>C (p.Asp678=) c.1734+16867T>C (n.1734+16867T>C) | |
| 3 | g.32997189A>T | CA352000384 | GLB1 | c.1890T>A (p.Asp630Glu) c.1497T>A (p.Asp499Glu) c.1800T>A (p.Asp600Glu) c.2034T>A (p.Asp678Glu) c.1734+16867T>A (n.1734+16867T>A) | |
| 3 | g.32997190T>A | CA352000388 | GLB1 | c.1889A>T (p.Asp630Val) c.1496A>T (p.Asp499Val) c.1799A>T (p.Asp600Val) c.2033A>T (p.Asp678Val) c.1734+16866A>T (n.1734+16866A>T) | gnomAD v4 |
| 3 | g.32997190T>C | CA2299278 | GLB1 | c.1889A>G (p.Asp630Gly) c.1496A>G (p.Asp499Gly) c.1799A>G (p.Asp600Gly) c.2033A>G (p.Asp678Gly) c.1734+16866A>G (n.1734+16866A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997190T>G | CA352000390 | GLB1 | c.1889A>C (p.Asp630Ala) c.1496A>C (p.Asp499Ala) c.1799A>C (p.Asp600Ala) c.2033A>C (p.Asp678Ala) c.1734+16866A>C (n.1734+16866A>C) | |
| 3 | g.32997190T= | CA1355976936 | GLB1 | c.1889A= (p.Asp630=) c.1496A= (p.Asp499=) c.1799A= (p.Asp600=) c.2033A= (p.Asp678=) c.1734+16866A= (n.1734+16866A=) | |
| 3 | g.32997191C>A | CA352000392 | GLB1 | c.1888G>T (p.Asp630Tyr) c.1495G>T (p.Asp499Tyr) c.1798G>T (p.Asp600Tyr) c.2032G>T (p.Asp678Tyr) c.1734+16865G>T (n.1734+16865G>T) | |
| 3 | g.32997191C= | CA1355976937 | GLB1 | c.1888G= (p.Asp630=) c.1495G= (p.Asp499=) c.1798G= (p.Asp600=) c.2032G= (p.Asp678=) c.1734+16865G= (n.1734+16865G=) | |
| 3 | g.32997191C>G | CA352000393 | GLB1 | c.1888G>C (p.Asp630His) c.1495G>C (p.Asp499His) c.1798G>C (p.Asp600His) c.2032G>C (p.Asp678His) c.1734+16865G>C (n.1734+16865G>C) | |
| 3 | g.32997191C>T | CA352000395 | GLB1 | c.1888G>A (p.Asp630Asn) c.1495G>A (p.Asp499Asn) c.1798G>A (p.Asp600Asn) c.2032G>A (p.Asp678Asn) c.1734+16865G>A (n.1734+16865G>A) | dbSNP |
| 3 | g.32997192A>C | CA352000397 | GLB1 | c.1887T>G (p.Asp629Glu) c.1494T>G (p.Asp498Glu) c.1797T>G (p.Asp599Glu) c.2031T>G (p.Asp677Glu) c.1734+16864T>G (n.1734+16864T>G) | |
| 3 | g.32997192A>G | CA432960278 | GLB1 | c.1887T>C (p.Asp629=) c.1494T>C (p.Asp498=) c.1797T>C (p.Asp599=) c.2031T>C (p.Asp677=) c.1734+16864T>C (n.1734+16864T>C) | |
| 3 | g.32997192A>T | CA352000399 | GLB1 | c.1887T>A (p.Asp629Glu) c.1494T>A (p.Asp498Glu) c.1797T>A (p.Asp599Glu) c.2031T>A (p.Asp677Glu) c.1734+16864T>A (n.1734+16864T>A) | |
| 3 | g.32997193T>A | CA352000401 | GLB1 | c.1886A>T (p.Asp629Val) c.1493A>T (p.Asp498Val) c.1796A>T (p.Asp599Val) c.2030A>T (p.Asp677Val) c.1734+16863A>T (n.1734+16863A>T) | |
| 3 | g.32997193T>C | CA352000403 | GLB1 | c.1886A>G (p.Asp629Gly) c.1493A>G (p.Asp498Gly) c.1796A>G (p.Asp599Gly) c.2030A>G (p.Asp677Gly) c.1734+16863A>G (n.1734+16863A>G) | |
| 3 | g.32997193T>G | CA352000405 | GLB1 | c.1886A>C (p.Asp629Ala) c.1493A>C (p.Asp498Ala) c.1796A>C (p.Asp599Ala) c.2030A>C (p.Asp677Ala) c.1734+16863A>C (n.1734+16863A>C) | |
| 3 | g.32997194C>A | CA352000411 | GLB1 | c.1885G>T (p.Asp629Tyr) c.1492G>T (p.Asp498Tyr) c.1795G>T (p.Asp599Tyr) c.2029G>T (p.Asp677Tyr) c.1734+16862G>T (n.1734+16862G>T) | |
| 3 | g.32997194C= | CA1355976938 | GLB1 | c.1885G= (p.Asp629=) c.1492G= (p.Asp498=) c.1795G= (p.Asp599=) c.2029G= (p.Asp677=) c.1734+16862G= (n.1734+16862G=) | |
| 3 | g.32997194C>G | CA352000409 | GLB1 | c.1885G>C (p.Asp629His) c.1492G>C (p.Asp498His) c.1795G>C (p.Asp599His) c.2029G>C (p.Asp677His) c.1734+16862G>C (n.1734+16862G>C) | |
| 3 | g.32997194C>T | CA352000407 | GLB1 | c.1885G>A (p.Asp629Asn) c.1492G>A (p.Asp498Asn) c.1795G>A (p.Asp599Asn) c.2029G>A (p.Asp677Asn) c.1734+16862G>A (n.1734+16862G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997195A>C | CA352000412 | GLB1 | c.1884T>G (p.Ser628Arg) c.1491T>G (p.Ser497Arg) c.1794T>G (p.Ser598Arg) c.2028T>G (p.Ser676Arg) c.1734+16861T>G (n.1734+16861T>G) | |
| 3 | g.32997195A>G | CA432960283 | GLB1 | c.1884T>C (p.Ser628=) c.1491T>C (p.Ser497=) c.1794T>C (p.Ser598=) c.2028T>C (p.Ser676=) c.1734+16861T>C (n.1734+16861T>C) | |
| 3 | g.32997195A>T | CA352000414 | GLB1 | c.1884T>A (p.Ser628Arg) c.1491T>A (p.Ser497Arg) c.1794T>A (p.Ser598Arg) c.2028T>A (p.Ser676Arg) c.1734+16861T>A (n.1734+16861T>A) | |
| 3 | g.32997196C>A | CA352000417 | GLB1 | c.1883G>T (p.Ser628Ile) c.1490G>T (p.Ser497Ile) c.1793G>T (p.Ser598Ile) c.2027G>T (p.Ser676Ile) c.1734+16860G>T (n.1734+16860G>T) | |
| 3 | g.32997196C= | CA1355976939 | GLB1 | c.1883G= (p.Ser628=) c.1490G= (p.Ser497=) c.1793G= (p.Ser598=) c.2027G= (p.Ser676=) c.1734+16860G= (n.1734+16860G=) | |
| 3 | g.32997196C>G | CA352000419 | GLB1 | c.1883G>C (p.Ser628Thr) c.1490G>C (p.Ser497Thr) c.1793G>C (p.Ser598Thr) c.2027G>C (p.Ser676Thr) c.1734+16860G>C (n.1734+16860G>C) | |
| 3 | g.32997196C>T | CA2299279 | GLB1 | c.1883G>A (p.Ser628Asn) c.1490G>A (p.Ser497Asn) c.1793G>A (p.Ser598Asn) c.2027G>A (p.Ser676Asn) c.1734+16860G>A (n.1734+16860G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997197T>A | CA352000422 | GLB1 | c.1882A>T (p.Ser628Cys) c.1489A>T (p.Ser497Cys) c.1792A>T (p.Ser598Cys) c.2026A>T (p.Ser676Cys) c.1734+16859A>T (n.1734+16859A>T) | |
| 3 | g.32997197T>C | CA352000423 | GLB1 | c.1882A>G (p.Ser628Gly) c.1489A>G (p.Ser497Gly) c.1792A>G (p.Ser598Gly) c.2026A>G (p.Ser676Gly) c.1734+16859A>G (n.1734+16859A>G) | |
| 3 | g.32997197T>G | CA352000425 | GLB1 | c.1882A>C (p.Ser628Arg) c.1489A>C (p.Ser497Arg) c.1792A>C (p.Ser598Arg) c.2026A>C (p.Ser676Arg) c.1734+16859A>C (n.1734+16859A>C) | |
| 3 | g.32997198G>A | CA432960287 | GLB1 | c.1881C>T (p.Ser627=) c.1488C>T (p.Ser496=) c.1791C>T (p.Ser597=) c.2025C>T (p.Ser675=) c.1734+16858C>T (n.1734+16858C>T) | |
| 3 | g.32997198G>C | CA352000427 | GLB1 | c.1881C>G (p.Ser627Arg) c.1488C>G (p.Ser496Arg) c.1791C>G (p.Ser597Arg) c.2025C>G (p.Ser675Arg) c.1734+16858C>G (n.1734+16858C>G) | |
| 3 | g.32997198G>T | CA352000429 | GLB1 | c.1881C>A (p.Ser627Arg) c.1488C>A (p.Ser496Arg) c.1791C>A (p.Ser597Arg) c.2025C>A (p.Ser675Arg) c.1734+16858C>A (n.1734+16858C>A) | |
| 3 | g.32997199C>A | CA352000432 | GLB1 | c.1880G>T (p.Ser627Ile) c.1487G>T (p.Ser496Ile) c.1790G>T (p.Ser597Ile) c.2024G>T (p.Ser675Ile) c.1734+16857G>T (n.1734+16857G>T) | |
| 3 | g.32997199C= | CA1355976940 | GLB1 | c.1880G= (p.Ser627=) c.1487G= (p.Ser496=) c.1790G= (p.Ser597=) c.2024G= (p.Ser675=) c.1734+16857G= (n.1734+16857G=) | |
| 3 | g.32997199C>G | CA352000434 | GLB1 | c.1880G>C (p.Ser627Thr) c.1487G>C (p.Ser496Thr) c.1790G>C (p.Ser597Thr) c.2024G>C (p.Ser675Thr) c.1734+16857G>C (n.1734+16857G>C) | |
| 3 | g.32997199C>T | CA352000435 | GLB1 | c.1880G>A (p.Ser627Asn) c.1487G>A (p.Ser496Asn) c.1790G>A (p.Ser597Asn) c.2024G>A (p.Ser675Asn) c.1734+16857G>A (n.1734+16857G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997200T>A | CA352000437 | GLB1 | c.1879A>T (p.Ser627Cys) c.1486A>T (p.Ser496Cys) c.1789A>T (p.Ser597Cys) c.2023A>T (p.Ser675Cys) c.1734+16856A>T (n.1734+16856A>T) | |
| 3 | g.32997200T>C | CA352000439 | GLB1 | c.1879A>G (p.Ser627Gly) c.1486A>G (p.Ser496Gly) c.1789A>G (p.Ser597Gly) c.2023A>G (p.Ser675Gly) c.1734+16856A>G (n.1734+16856A>G) | |
| 3 | g.32997200T>G | CA2299280 | GLB1 | c.1879A>C (p.Ser627Arg) c.1486A>C (p.Ser496Arg) c.1789A>C (p.Ser597Arg) c.2023A>C (p.Ser675Arg) c.1734+16856A>C (n.1734+16856A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997200T= | CA1355976941 | GLB1 | c.1879A= (p.Ser627=) c.1486A= (p.Ser496=) c.1789A= (p.Ser597=) c.2023A= (p.Ser675=) c.1734+16856A= (n.1734+16856A=) | |
| 3 | g.32997201G>A | CA432960289 | GLB1 | c.1878C>T (p.Cys626=) c.1485C>T (p.Cys495=) c.1788C>T (p.Cys596=) c.2022C>T (p.Cys674=) c.1734+16855C>T (n.1734+16855C>T) | gnomAD v4 |
| 3 | g.32997201G>C | CA352000441 | GLB1 | c.1878C>G (p.Cys626Trp) c.1485C>G (p.Cys495Trp) c.1788C>G (p.Cys596Trp) c.2022C>G (p.Cys674Trp) c.1734+16855C>G (n.1734+16855C>G) | |
| 3 | g.32997201G>T | CA352000443 | GLB1 | c.1878C>A (p.Cys626Ter) c.1485C>A (p.Cys495Ter) c.1788C>A (p.Cys596Ter) c.2022C>A (p.Cys674Ter) c.1734+16855C>A (n.1734+16855C>A) | |
| 3 | g.32997202C>A | CA352000445 | GLB1 | c.1877G>T (p.Cys626Phe) c.1484G>T (p.Cys495Phe) c.1787G>T (p.Cys596Phe) c.2021G>T (p.Cys674Phe) c.1734+16854G>T (n.1734+16854G>T) | |
| 3 | g.32997202C>G | CA352000447 | GLB1 | c.1877G>C (p.Cys626Ser) c.1484G>C (p.Cys495Ser) c.1787G>C (p.Cys596Ser) c.2021G>C (p.Cys674Ser) c.1734+16854G>C (n.1734+16854G>C) | |
| 3 | g.32997202C>T | CA352000449 | GLB1 | c.1877G>A (p.Cys626Tyr) c.1484G>A (p.Cys495Tyr) c.1787G>A (p.Cys596Tyr) c.2021G>A (p.Cys674Tyr) c.1734+16854G>A (n.1734+16854G>A) | |
| 3 | g.32997203del | CA2664926658 | GLB1 | c.1876del (p.Cys626AlafsTer11) c.1483del (p.Cys495AlafsTer11) c.1786del (p.Cys596AlafsTer11) c.2020del (p.Cys674AlafsTer11) c.1734+16853del (n.1734+16853del) | gnomAD v4 |
| 3 | g.32997203A>C | CA352000451 | GLB1 | c.1876T>G (p.Cys626Gly) c.1483T>G (p.Cys495Gly) c.1786T>G (p.Cys596Gly) c.2020T>G (p.Cys674Gly) c.1734+16853T>G (n.1734+16853T>G) | |
| 3 | g.32997203A>G | CA352000452 | GLB1 | c.1876T>C (p.Cys626Arg) c.1483T>C (p.Cys495Arg) c.1786T>C (p.Cys596Arg) c.2020T>C (p.Cys674Arg) c.1734+16853T>C (n.1734+16853T>C) | |
| 3 | g.32997203A>T | CA352000453 | GLB1 | c.1876T>A (p.Cys626Ser) c.1483T>A (p.Cys495Ser) c.1786T>A (p.Cys596Ser) c.2020T>A (p.Cys674Ser) c.1734+16853T>A (n.1734+16853T>A) | |
| 3 | g.32997204G>A | CA432960290 | GLB1 | c.1875C>T (p.Pro625=) c.1482C>T (p.Pro494=) c.1785C>T (p.Pro595=) c.2019C>T (p.Pro673=) c.1734+16852C>T (n.1734+16852C>T) | gnomAD v4 |
| 3 | g.32997204G>C | CA432960291 | GLB1 | c.1875C>G (p.Pro625=) c.1482C>G (p.Pro494=) c.1785C>G (p.Pro595=) c.2019C>G (p.Pro673=) c.1734+16852C>G (n.1734+16852C>G) | |
| 3 | g.32997204G>T | CA432960292 | GLB1 | c.1875C>A (p.Pro625=) c.1482C>A (p.Pro494=) c.1785C>A (p.Pro595=) c.2019C>A (p.Pro673=) c.1734+16852C>A (n.1734+16852C>A) | |
| 3 | g.32997205G>A | CA352000455 | GLB1 | c.1874C>T (p.Pro625Leu) c.1481C>T (p.Pro494Leu) c.1784C>T (p.Pro595Leu) c.2018C>T (p.Pro673Leu) c.1734+16851C>T (n.1734+16851C>T) | |
| 3 | g.32997205G>C | CA352000458 | GLB1 | c.1874C>G (p.Pro625Arg) c.1481C>G (p.Pro494Arg) c.1784C>G (p.Pro595Arg) c.2018C>G (p.Pro673Arg) c.1734+16851C>G (n.1734+16851C>G) | gnomAD v4 |
| 3 | g.32997205G>T | CA352000460 | GLB1 | c.1874C>A (p.Pro625His) c.1481C>A (p.Pro494His) c.1784C>A (p.Pro595His) c.2018C>A (p.Pro673His) c.1734+16851C>A (n.1734+16851C>A) | |
| 3 | g.32997206G>A | CA352000463 | GLB1 | c.1873C>T (p.Pro625Ser) c.1480C>T (p.Pro494Ser) c.1783C>T (p.Pro595Ser) c.2017C>T (p.Pro673Ser) c.1734+16850C>T (n.1734+16850C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997206G>C | CA352000465 | GLB1 | c.1873C>G (p.Pro625Ala) c.1480C>G (p.Pro494Ala) c.1783C>G (p.Pro595Ala) c.2017C>G (p.Pro673Ala) c.1734+16850C>G (n.1734+16850C>G) | |
| 3 | g.32997206G= | CA1355976942 | GLB1 | c.1873C= (p.Pro625=) c.1480C= (p.Pro494=) c.1783C= (p.Pro595=) c.2017C= (p.Pro673=) c.1734+16850C= (n.1734+16850C=) | |
| 3 | g.32997206G>T | CA2299281 | GLB1 | c.1873C>A (p.Pro625Thr) c.1480C>A (p.Pro494Thr) c.1783C>A (p.Pro595Thr) c.2017C>A (p.Pro673Thr) c.1734+16850C>A (n.1734+16850C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997207T>A | CA432960295 | GLB1 | c.1872A>T (p.Ala624=) c.1479A>T (p.Ala493=) c.1782A>T (p.Ala594=) c.2016A>T (p.Ala672=) c.1734+16849A>T (n.1734+16849A>T) | |
| 3 | g.32997207T>C | CA432960293 | GLB1 | c.1872A>G (p.Ala624=) c.1479A>G (p.Ala493=) c.1782A>G (p.Ala594=) c.2016A>G (p.Ala672=) c.1734+16849A>G (n.1734+16849A>G) | |
| 3 | g.32997207T>G | CA432960294 | GLB1 | c.1872A>C (p.Ala624=) c.1479A>C (p.Ala493=) c.1782A>C (p.Ala594=) c.2016A>C (p.Ala672=) c.1734+16849A>C (n.1734+16849A>C) | |
| 3 | g.32997208G>A | CA352000469 | GLB1 | c.1871C>T (p.Ala624Val) c.1478C>T (p.Ala493Val) c.1781C>T (p.Ala594Val) c.2015C>T (p.Ala672Val) c.1734+16848C>T (n.1734+16848C>T) | |
| 3 | g.32997208G>C | CA352000467 | GLB1 | c.1871C>G (p.Ala624Gly) c.1478C>G (p.Ala493Gly) c.1781C>G (p.Ala594Gly) c.2015C>G (p.Ala672Gly) c.1734+16848C>G (n.1734+16848C>G) | |
| 3 | g.32997208G>T | CA352000471 | GLB1 | c.1871C>A (p.Ala624Glu) c.1478C>A (p.Ala493Glu) c.1781C>A (p.Ala594Glu) c.2015C>A (p.Ala672Glu) c.1734+16848C>A (n.1734+16848C>A) | |
| 3 | g.32997209C>A | CA352000473 | GLB1 | c.1870G>T (p.Ala624Ser) c.1477G>T (p.Ala493Ser) c.1780G>T (p.Ala594Ser) c.2014G>T (p.Ala672Ser) c.1734+16847G>T (n.1734+16847G>T) | |
| 3 | g.32997209C= | CA1355976943 | GLB1 | c.1870G= (p.Ala624=) c.1477G= (p.Ala493=) c.1780G= (p.Ala594=) c.2014G= (p.Ala672=) c.1734+16847G= (n.1734+16847G=) | |
| 3 | g.32997209C>G | CA352000475 | GLB1 | c.1870G>C (p.Ala624Pro) c.1477G>C (p.Ala493Pro) c.1780G>C (p.Ala594Pro) c.2014G>C (p.Ala672Pro) c.1734+16847G>C (n.1734+16847G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997209C>T | CA352000477 | GLB1 | c.1870G>A (p.Ala624Thr) c.1477G>A (p.Ala493Thr) c.1780G>A (p.Ala594Thr) c.2014G>A (p.Ala672Thr) c.1734+16847G>A (n.1734+16847G>A) | dbSNP gnomAD v2 |
| 3 | g.32997210C>A | CA352000479 | GLB1 | c.1869G>T (p.Trp623Cys) c.1476G>T (p.Trp492Cys) c.1779G>T (p.Trp593Cys) c.2013G>T (p.Trp671Cys) c.1734+16846G>T (n.1734+16846G>T) | |
| 3 | g.32997210C>G | CA352000480 | GLB1 | c.1869G>C (p.Trp623Cys) c.1476G>C (p.Trp492Cys) c.1779G>C (p.Trp593Cys) c.2013G>C (p.Trp671Cys) c.1734+16846G>C (n.1734+16846G>C) | |
| 3 | g.32997210C>T | CA352000481 | GLB1 | c.1869G>A (p.Trp623Ter) c.1476G>A (p.Trp492Ter) c.1779G>A (p.Trp593Ter) c.2013G>A (p.Trp671Ter) c.1734+16846G>A (n.1734+16846G>A) | |
| 3 | g.32997211C>A | CA352000484 | GLB1 | c.1868G>T (p.Trp623Leu) c.1475G>T (p.Trp492Leu) c.1778G>T (p.Trp593Leu) c.2012G>T (p.Trp671Leu) c.1734+16845G>T (n.1734+16845G>T) | |
| 3 | g.32997211C>G | CA352000486 | GLB1 | c.1868G>C (p.Trp623Ser) c.1475G>C (p.Trp492Ser) c.1778G>C (p.Trp593Ser) c.2012G>C (p.Trp671Ser) c.1734+16845G>C (n.1734+16845G>C) | |
| 3 | g.32997211C>T | CA352000488 | GLB1 | c.1868G>A (p.Trp623Ter) c.1475G>A (p.Trp492Ter) c.1778G>A (p.Trp593Ter) c.2012G>A (p.Trp671Ter) c.1734+16845G>A (n.1734+16845G>A) | |
| 3 | g.32997212A= | CA1355976944 | GLB1 | c.1867T= (p.Trp623=) c.1474T= (p.Trp492=) c.1777T= (p.Trp593=) c.2011T= (p.Trp671=) c.1734+16844T= (n.1734+16844T=) | |
| 3 | g.32997212A>C | CA352000491 | GLB1 | c.1867T>G (p.Trp623Gly) c.1474T>G (p.Trp492Gly) c.1777T>G (p.Trp593Gly) c.2011T>G (p.Trp671Gly) c.1734+16844T>G (n.1734+16844T>G) | |
| 3 | g.32997212A>G | CA352000492 | GLB1 | c.1867T>C (p.Trp623Arg) c.1474T>C (p.Trp492Arg) c.1777T>C (p.Trp593Arg) c.2011T>C (p.Trp671Arg) c.1734+16844T>C (n.1734+16844T>C) | dbSNP |
| 3 | g.32997212A>T | CA352000493 | GLB1 | c.1867T>A (p.Trp623Arg) c.1474T>A (p.Trp492Arg) c.1777T>A (p.Trp593Arg) c.2011T>A (p.Trp671Arg) c.1734+16844T>A (n.1734+16844T>A) | |
| 3 | g.32997213C>A | CA352000498 | GLB1 | c.1866G>T (p.Glu622Asp) c.1473G>T (p.Glu491Asp) c.1776G>T (p.Glu592Asp) c.2010G>T (p.Glu670Asp) c.1734+16843G>T (n.1734+16843G>T) | |
| 3 | g.32997213C= | CA1355976945 | GLB1 | c.1866G= (p.Glu622=) c.1473G= (p.Glu491=) c.1776G= (p.Glu592=) c.2010G= (p.Glu670=) c.1734+16843G= (n.1734+16843G=) | |
| 3 | g.32997213C>G | CA352000495 | GLB1 | c.1866G>C (p.Glu622Asp) c.1473G>C (p.Glu491Asp) c.1776G>C (p.Glu592Asp) c.2010G>C (p.Glu670Asp) c.1734+16843G>C (n.1734+16843G>C) | dbSNP |
| 3 | g.32997213C>T | CA2299282 | GLB1 | c.1866G>A (p.Glu622=) c.1473G>A (p.Glu491=) c.1776G>A (p.Glu592=) c.2010G>A (p.Glu670=) c.1734+16843G>A (n.1734+16843G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997214T>A | CA352000500 | GLB1 | c.1865A>T (p.Glu622Val) c.1472A>T (p.Glu491Val) c.1775A>T (p.Glu592Val) c.2009A>T (p.Glu670Val) c.1734+16842A>T (n.1734+16842A>T) | |
| 3 | g.32997214T>C | CA352000501 | GLB1 | c.1865A>G (p.Glu622Gly) c.1472A>G (p.Glu491Gly) c.1775A>G (p.Glu592Gly) c.2009A>G (p.Glu670Gly) c.1734+16842A>G (n.1734+16842A>G) | |
| 3 | g.32997214T>G | CA352000503 | GLB1 | c.1865A>C (p.Glu622Ala) c.1472A>C (p.Glu491Ala) c.1775A>C (p.Glu592Ala) c.2009A>C (p.Glu670Ala) c.1734+16842A>C (n.1734+16842A>C) | |
| 3 | g.32997219_32997224dup | CA2664926659 | GLB1 | c.1860_1865dup (p.Glu622_Trp623insLeuGlu) c.1467_1472dup (p.Glu491_Trp492insLeuGlu) c.1770_1775dup (p.Glu592_Trp593insLeuGlu) c.2004_2009dup (p.Glu670_Trp671insLeuGlu) c.1734+16837_1734+16842dup (n.1734+16837_1734+16842dup) | gnomAD v4 |
| 3 | g.32997215C>A | CA352000505 | GLB1 | c.1864G>T (p.Glu622Ter) c.1471G>T (p.Glu491Ter) c.1774G>T (p.Glu592Ter) c.2008G>T (p.Glu670Ter) c.1734+16841G>T (n.1734+16841G>T) | |
| 3 | g.32997215C>G | CA352000507 | GLB1 | c.1864G>C (p.Glu622Gln) c.1471G>C (p.Glu491Gln) c.1774G>C (p.Glu592Gln) c.2008G>C (p.Glu670Gln) c.1734+16841G>C (n.1734+16841G>C) | |
| 3 | g.32997215C>T | CA352000509 | GLB1 | c.1864G>A (p.Glu622Lys) c.1471G>A (p.Glu491Lys) c.1774G>A (p.Glu592Lys) c.2008G>A (p.Glu670Lys) c.1734+16841G>A (n.1734+16841G>A) | |
| 3 | g.32997216C>A | CA432960297 | GLB1 | c.1863G>T (p.Leu621=) c.1470G>T (p.Leu490=) c.1773G>T (p.Leu591=) c.2007G>T (p.Leu669=) c.1734+16840G>T (n.1734+16840G>T) | |
| 3 | g.32997216C>G | CA432960298 | GLB1 | c.1863G>C (p.Leu621=) c.1470G>C (p.Leu490=) c.1773G>C (p.Leu591=) c.2007G>C (p.Leu669=) c.1734+16840G>C (n.1734+16840G>C) | |
| 3 | g.32997216C>T | CA432960299 | GLB1 | c.1863G>A (p.Leu621=) c.1470G>A (p.Leu490=) c.1773G>A (p.Leu591=) c.2007G>A (p.Leu669=) c.1734+16840G>A (n.1734+16840G>A) | |
| 3 | g.32997217A>C | CA352000511 | GLB1 | c.1862T>G (p.Leu621Arg) c.1469T>G (p.Leu490Arg) c.1772T>G (p.Leu591Arg) c.2006T>G (p.Leu669Arg) c.1734+16839T>G (n.1734+16839T>G) | |
| 3 | g.32997217A>G | CA352000513 | GLB1 | c.1862T>C (p.Leu621Pro) c.1469T>C (p.Leu490Pro) c.1772T>C (p.Leu591Pro) c.2006T>C (p.Leu669Pro) c.1734+16839T>C (n.1734+16839T>C) | |
| 3 | g.32997217A>T | CA352000515 | GLB1 | c.1862T>A (p.Leu621Gln) c.1469T>A (p.Leu490Gln) c.1772T>A (p.Leu591Gln) c.2006T>A (p.Leu669Gln) c.1734+16839T>A (n.1734+16839T>A) | |
| 3 | g.32997218G>A | CA2299283 | GLB1 | c.1861C>T (p.Leu621=) c.1468C>T (p.Leu490=) c.1771C>T (p.Leu591=) c.2005C>T (p.Leu669=) c.1734+16838C>T (n.1734+16838C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997218G>C | CA2299284 | GLB1 | c.1861C>G (p.Leu621Val) c.1468C>G (p.Leu490Val) c.1771C>G (p.Leu591Val) c.2005C>G (p.Leu669Val) c.1734+16838C>G (n.1734+16838C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997218G= | CA1355976946 | GLB1 | c.1861C= (p.Leu621=) c.1468C= (p.Leu490=) c.1771C= (p.Leu591=) c.2005C= (p.Leu669=) c.1734+16838C= (n.1734+16838C=) | |
| 3 | g.32997218G>T | CA352000517 | GLB1 | c.1861C>A (p.Leu621Met) c.1468C>A (p.Leu490Met) c.1771C>A (p.Leu591Met) c.2005C>A (p.Leu669Met) c.1734+16838C>A (n.1734+16838C>A) | |
| 3 | g.32997219T>A | CA352000519 | GLB1 | c.1860A>T (p.Glu620Asp) c.1467A>T (p.Glu489Asp) c.1770A>T (p.Glu590Asp) c.2004A>T (p.Glu668Asp) c.1734+16837A>T (n.1734+16837A>T) | |
| 3 | g.32997219T>C | CA432960300 | GLB1 | c.1860A>G (p.Glu620=) c.1467A>G (p.Glu489=) c.1770A>G (p.Glu590=) c.2004A>G (p.Glu668=) c.1734+16837A>G (n.1734+16837A>G) | |
| 3 | g.32997219T>G | CA352000521 | GLB1 | c.1860A>C (p.Glu620Asp) c.1467A>C (p.Glu489Asp) c.1770A>C (p.Glu590Asp) c.2004A>C (p.Glu668Asp) c.1734+16837A>C (n.1734+16837A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.32997219T= | CA1355976947 | GLB1 | c.1860A= (p.Glu620=) c.1467A= (p.Glu489=) c.1770A= (p.Glu590=) c.2004A= (p.Glu668=) c.1734+16837A= (n.1734+16837A=) | |
| 3 | g.32997220T>A | CA352000523 | GLB1 | c.1859A>T (p.Glu620Val) c.1466A>T (p.Glu489Val) c.1769A>T (p.Glu590Val) c.2003A>T (p.Glu668Val) c.1734+16836A>T (n.1734+16836A>T) | |
| 3 | g.32997220T>C | CA352000525 | GLB1 | c.1859A>G (p.Glu620Gly) c.1466A>G (p.Glu489Gly) c.1769A>G (p.Glu590Gly) c.2003A>G (p.Glu668Gly) c.1734+16836A>G (n.1734+16836A>G) | gnomAD v4 |
| 3 | g.32997220T>G | CA352000527 | GLB1 | c.1859A>C (p.Glu620Ala) c.1466A>C (p.Glu489Ala) c.1769A>C (p.Glu590Ala) c.2003A>C (p.Glu668Ala) c.1734+16836A>C (n.1734+16836A>C) | |
| 3 | g.32997221C>A | CA352000530 | GLB1 | c.1858G>T (p.Glu620Ter) c.1465G>T (p.Glu489Ter) c.1768G>T (p.Glu590Ter) c.2002G>T (p.Glu668Ter) c.1734+16835G>T (n.1734+16835G>T) | |
| 3 | g.32997221C>G | CA352000531 | GLB1 | c.1858G>C (p.Glu620Gln) c.1465G>C (p.Glu489Gln) c.1768G>C (p.Glu590Gln) c.2002G>C (p.Glu668Gln) c.1734+16835G>C (n.1734+16835G>C) | |
| 3 | g.32997221C>T | CA352000533 | GLB1 | c.1858G>A (p.Glu620Lys) c.1465G>A (p.Glu489Lys) c.1768G>A (p.Glu590Lys) c.2002G>A (p.Glu668Lys) c.1734+16835G>A (n.1734+16835G>A) | |
| 3 | g.32997222C>A | CA432960306 | GLB1 | c.1857G>T (p.Leu619=) c.1464G>T (p.Leu488=) c.1767G>T (p.Leu589=) c.2001G>T (p.Leu667=) c.1734+16834G>T (n.1734+16834G>T) | |
| 3 | g.32997222C>G | CA432960307 | GLB1 | c.1857G>C (p.Leu619=) c.1464G>C (p.Leu488=) c.1767G>C (p.Leu589=) c.2001G>C (p.Leu667=) c.1734+16834G>C (n.1734+16834G>C) | |
| 3 | g.32997222C>T | CA432960308 | GLB1 | c.1857G>A (p.Leu619=) c.1464G>A (p.Leu488=) c.1767G>A (p.Leu589=) c.2001G>A (p.Leu667=) c.1734+16834G>A (n.1734+16834G>A) | |
| 3 | g.32997223A>C | CA352000536 | GLB1 | c.1856T>G (p.Leu619Arg) c.1463T>G (p.Leu488Arg) c.1766T>G (p.Leu589Arg) c.2000T>G (p.Leu667Arg) c.1734+16833T>G (n.1734+16833T>G) | |
| 3 | g.32997223A>G | CA352000537 | GLB1 | c.1856T>C (p.Leu619Pro) c.1463T>C (p.Leu488Pro) c.1766T>C (p.Leu589Pro) c.2000T>C (p.Leu667Pro) c.1734+16833T>C (n.1734+16833T>C) | |
| 3 | g.32997223A>T | CA352000538 | GLB1 | c.1856T>A (p.Leu619Gln) c.1463T>A (p.Leu488Gln) c.1766T>A (p.Leu589Gln) c.2000T>A (p.Leu667Gln) c.1734+16833T>A (n.1734+16833T>A) | |
| 3 | g.32997224G>A | CA432960310 | GLB1 | c.1855C>T (p.Leu619=) c.1462C>T (p.Leu488=) c.1765C>T (p.Leu589=) c.1999C>T (p.Leu667=) c.1734+16832C>T (n.1734+16832C>T) | ClinVar |
| 3 | g.32997224G>C | CA352000540 | GLB1 | c.1855C>G (p.Leu619Val) c.1462C>G (p.Leu488Val) c.1765C>G (p.Leu589Val) c.1999C>G (p.Leu667Val) c.1734+16832C>G (n.1734+16832C>G) | |
| 3 | g.32997224G>T | CA352000542 | GLB1 | c.1855C>A (p.Leu619Met) c.1462C>A (p.Leu488Met) c.1765C>A (p.Leu589Met) c.1999C>A (p.Leu667Met) c.1734+16832C>A (n.1734+16832C>A) | ClinVar |
| 3 | g.32997225C>A | CA432960311 | GLB1 | c.1854G>T (p.Val618=) c.1461G>T (p.Val487=) c.1764G>T (p.Val588=) c.1998G>T (p.Val666=) c.1734+16831G>T (n.1734+16831G>T) | |
| 3 | g.32997225C>G | CA432960312 | GLB1 | c.1854G>C (p.Val618=) c.1461G>C (p.Val487=) c.1764G>C (p.Val588=) c.1998G>C (p.Val666=) c.1734+16831G>C (n.1734+16831G>C) | ClinVar |
| 3 | g.32997225C>T | CA432960314 | GLB1 | c.1854G>A (p.Val618=) c.1461G>A (p.Val487=) c.1764G>A (p.Val588=) c.1998G>A (p.Val666=) c.1734+16831G>A (n.1734+16831G>A) | ClinVar gnomAD v4 |
| 3 | g.32997226A>C | CA352000548 | GLB1 | c.1853T>G (p.Val618Gly) c.1460T>G (p.Val487Gly) c.1763T>G (p.Val588Gly) c.1997T>G (p.Val666Gly) c.1734+16830T>G (n.1734+16830T>G) | |
| 3 | g.32997226A>G | CA352000546 | GLB1 | c.1853T>C (p.Val618Ala) c.1460T>C (p.Val487Ala) c.1763T>C (p.Val588Ala) c.1997T>C (p.Val666Ala) c.1734+16830T>C (n.1734+16830T>C) | |
| 3 | g.32997226A>T | CA352000544 | GLB1 | c.1853T>A (p.Val618Glu) c.1460T>A (p.Val487Glu) c.1763T>A (p.Val588Glu) c.1997T>A (p.Val666Glu) c.1734+16830T>A (n.1734+16830T>A) | |
| 3 | g.32997227C>A | CA352000549 | GLB1 | c.1852G>T (p.Val618Leu) c.1459G>T (p.Val487Leu) c.1762G>T (p.Val588Leu) c.1996G>T (p.Val666Leu) c.1734+16829G>T (n.1734+16829G>T) | |
| 3 | g.32997227C= | CA1355976948 | GLB1 | c.1852G= (p.Val618=) c.1459G= (p.Val487=) c.1762G= (p.Val588=) c.1996G= (p.Val666=) c.1734+16829G= (n.1734+16829G=) | |
| 3 | g.32997227C>G | CA352000551 | GLB1 | c.1852G>C (p.Val618Leu) c.1459G>C (p.Val487Leu) c.1762G>C (p.Val588Leu) c.1996G>C (p.Val666Leu) c.1734+16829G>C (n.1734+16829G>C) | |
| 3 | g.32997227C>T | CA352000553 | GLB1 | c.1852G>A (p.Val618Met) c.1459G>A (p.Val487Met) c.1762G>A (p.Val588Met) c.1996G>A (p.Val666Met) c.1734+16829G>A (n.1734+16829G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.32997228G>A | CA432960320 | GLB1 | c.1851C>T (p.Thr617=) c.1458C>T (p.Thr486=) c.1761C>T (p.Thr587=) c.1995C>T (p.Thr665=) c.1734+16828C>T (n.1734+16828C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997228G>C | CA432960323 | GLB1 | c.1851C>G (p.Thr617=) c.1458C>G (p.Thr486=) c.1761C>G (p.Thr587=) c.1995C>G (p.Thr665=) c.1734+16828C>G (n.1734+16828C>G) | gnomAD v4 |
| 3 | g.32997228G= | CA1355976949 | GLB1 | c.1851C= (p.Thr617=) c.1458C= (p.Thr486=) c.1761C= (p.Thr587=) c.1995C= (p.Thr665=) c.1734+16828C= (n.1734+16828C=) | |
| 3 | g.32997228G>T | CA432960322 | GLB1 | c.1851C>A (p.Thr617=) c.1458C>A (p.Thr486=) c.1761C>A (p.Thr587=) c.1995C>A (p.Thr665=) c.1734+16828C>A (n.1734+16828C>A) | |
| 3 | g.32997229G>A | CA352000555 | GLB1 | c.1850C>T (p.Thr617Ile) c.1457C>T (p.Thr486Ile) c.1760C>T (p.Thr587Ile) c.1994C>T (p.Thr665Ile) c.1734+16827C>T (n.1734+16827C>T) | |
| 3 | g.32997229G>C | CA352000557 | GLB1 | c.1850C>G (p.Thr617Ser) c.1457C>G (p.Thr486Ser) c.1760C>G (p.Thr587Ser) c.1994C>G (p.Thr665Ser) c.1734+16827C>G (n.1734+16827C>G) | dbSNP |
| 3 | g.32997229G= | CA1355976950 | GLB1 | c.1850C= (p.Thr617=) c.1457C= (p.Thr486=) c.1760C= (p.Thr587=) c.1994C= (p.Thr665=) c.1734+16827C= (n.1734+16827C=) | |
| 3 | g.32997229G>T | CA352000559 | GLB1 | c.1850C>A (p.Thr617Asn) c.1457C>A (p.Thr486Asn) c.1760C>A (p.Thr587Asn) c.1994C>A (p.Thr665Asn) c.1734+16827C>A (n.1734+16827C>A) | |
| 3 | g.32997230T>A | CA352000561 | GLB1 | c.1849A>T (p.Thr617Ser) c.1456A>T (p.Thr486Ser) c.1759A>T (p.Thr587Ser) c.1993A>T (p.Thr665Ser) c.1734+16826A>T (n.1734+16826A>T) | |
| 3 | g.32997230T>C | CA352000562 | GLB1 | c.1849A>G (p.Thr617Ala) c.1456A>G (p.Thr486Ala) c.1759A>G (p.Thr587Ala) c.1993A>G (p.Thr665Ala) c.1734+16826A>G (n.1734+16826A>G) | gnomAD v4 |
| 3 | g.32997230T>G | CA352000564 | GLB1 | c.1849A>C (p.Thr617Pro) c.1456A>C (p.Thr486Pro) c.1759A>C (p.Thr587Pro) c.1993A>C (p.Thr665Pro) c.1734+16826A>C (n.1734+16826A>C) | |
| 3 | g.32997231G>A | CA432960325 | GLB1 | c.1848C>T (p.Ile616=) c.1455C>T (p.Ile485=) c.1758C>T (p.Ile586=) c.1992C>T (p.Ile664=) c.1734+16825C>T (n.1734+16825C>T) | dbSNP |
| 3 | g.32997231G>C | CA352000566 | GLB1 | c.1848C>G (p.Ile616Met) c.1455C>G (p.Ile485Met) c.1758C>G (p.Ile586Met) c.1992C>G (p.Ile664Met) c.1734+16825C>G (n.1734+16825C>G) | |
| 3 | g.32997231G= | CA1355976951 | GLB1 | c.1848C= (p.Ile616=) c.1455C= (p.Ile485=) c.1758C= (p.Ile586=) c.1992C= (p.Ile664=) c.1734+16825C= (n.1734+16825C=) | |
| 3 | g.32997231G>T | CA432960326 | GLB1 | c.1848C>A (p.Ile616=) c.1455C>A (p.Ile485=) c.1758C>A (p.Ile586=) c.1992C>A (p.Ile664=) c.1734+16825C>A (n.1734+16825C>A) | |
| 3 | g.32997232A>C | CA352000567 | GLB1 | c.1847T>G (p.Ile616Ser) c.1454T>G (p.Ile485Ser) c.1757T>G (p.Ile586Ser) c.1991T>G (p.Ile664Ser) c.1734+16824T>G (n.1734+16824T>G) | |
| 3 | g.32997232A>G | CA352000569 | GLB1 | c.1847T>C (p.Ile616Thr) c.1454T>C (p.Ile485Thr) c.1757T>C (p.Ile586Thr) c.1991T>C (p.Ile664Thr) c.1734+16824T>C (n.1734+16824T>C) | |
| 3 | g.32997232A>T | CA352000570 | GLB1 | c.1847T>A (p.Ile616Asn) c.1454T>A (p.Ile485Asn) c.1757T>A (p.Ile586Asn) c.1991T>A (p.Ile664Asn) c.1734+16824T>A (n.1734+16824T>A) | |
| 3 | g.32997233T>A | CA352000572 | GLB1 | c.1846A>T (p.Ile616Phe) c.1453A>T (p.Ile485Phe) c.1756A>T (p.Ile586Phe) c.1990A>T (p.Ile664Phe) c.1734+16823A>T (n.1734+16823A>T) | |
| 3 | g.32997233T>C | CA352000574 | GLB1 | c.1846A>G (p.Ile616Val) c.1453A>G (p.Ile485Val) c.1756A>G (p.Ile586Val) c.1990A>G (p.Ile664Val) c.1734+16823A>G (n.1734+16823A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.32997233T>G | CA352000571 | GLB1 | c.1846A>C (p.Ile616Leu) c.1453A>C (p.Ile485Leu) c.1756A>C (p.Ile586Leu) c.1990A>C (p.Ile664Leu) c.1734+16823A>C (n.1734+16823A>C) | |
| 3 | g.32997233T= | CA1355976952 | GLB1 | c.1846A= (p.Ile616=) c.1453A= (p.Ile485=) c.1756A= (p.Ile586=) c.1990A= (p.Ile664=) c.1734+16823A= (n.1734+16823A=) | |
| 3 | g.32997234G>A | CA432960329 | GLB1 | c.1845C>T (p.Thr615=) c.1452C>T (p.Thr484=) c.1755C>T (p.Thr585=) c.1989C>T (p.Thr663=) c.1734+16822C>T (n.1734+16822C>T) | |
| 3 | g.32997234G>C | CA432960331 | GLB1 | c.1845C>G (p.Thr615=) c.1452C>G (p.Thr484=) c.1755C>G (p.Thr585=) c.1989C>G (p.Thr663=) c.1734+16822C>G (n.1734+16822C>G) | |
| 3 | g.32997234G>T | CA432960333 | GLB1 | c.1845C>A (p.Thr615=) c.1452C>A (p.Thr484=) c.1755C>A (p.Thr585=) c.1989C>A (p.Thr663=) c.1734+16822C>A (n.1734+16822C>A) | |
| 3 | g.32997235G>A | CA352000576 | GLB1 | c.1844C>T (p.Thr615Ile) c.1451C>T (p.Thr484Ile) c.1754C>T (p.Thr585Ile) c.1988C>T (p.Thr663Ile) c.1734+16821C>T (n.1734+16821C>T) | gnomAD v4 COSMIC |
| 3 | g.32997235G>C | CA352000578 | GLB1 | c.1844C>G (p.Thr615Ser) c.1451C>G (p.Thr484Ser) c.1754C>G (p.Thr585Ser) c.1988C>G (p.Thr663Ser) c.1734+16821C>G (n.1734+16821C>G) | dbSNP |
| 3 | g.32997235G= | CA1355976953 | GLB1 | c.1844C= (p.Thr615=) c.1451C= (p.Thr484=) c.1754C= (p.Thr585=) c.1988C= (p.Thr663=) c.1734+16821C= (n.1734+16821C=) | |
| 3 | g.32997235G>T | CA2299285 | GLB1 | c.1844C>A (p.Thr615Asn) c.1451C>A (p.Thr484Asn) c.1754C>A (p.Thr585Asn) c.1988C>A (p.Thr663Asn) c.1734+16821C>A (n.1734+16821C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997236T>A | CA352000581 | GLB1 | c.1843A>T (p.Thr615Ser) c.1450A>T (p.Thr484Ser) c.1753A>T (p.Thr585Ser) c.1987A>T (p.Thr663Ser) c.1734+16820A>T (n.1734+16820A>T) | |
| 3 | g.32997236T>C | CA352000582 | GLB1 | c.1843A>G (p.Thr615Ala) c.1450A>G (p.Thr484Ala) c.1753A>G (p.Thr585Ala) c.1987A>G (p.Thr663Ala) c.1734+16820A>G (n.1734+16820A>G) | dbSNP gnomAD v4 |
| 3 | g.32997236T>G | CA352000584 | GLB1 | c.1843A>C (p.Thr615Pro) c.1450A>C (p.Thr484Pro) c.1753A>C (p.Thr585Pro) c.1987A>C (p.Thr663Pro) c.1734+16820A>C (n.1734+16820A>C) | |
| 3 | g.32997236T= | CA1355976954 | GLB1 | c.1843A= (p.Thr615=) c.1450A= (p.Thr484=) c.1753A= (p.Thr585=) c.1987A= (p.Thr663=) c.1734+16820A= (n.1734+16820A=) | |
| 3 | g.32997237G>A | CA432960336 | GLB1 | c.1842C>T (p.Asn614=) c.1449C>T (p.Asn483=) c.1752C>T (p.Asn584=) c.1986C>T (p.Asn662=) c.1734+16819C>T (n.1734+16819C>T) | ClinVar |
| 3 | g.32997237G>C | CA352000588 | GLB1 | c.1842C>G (p.Asn614Lys) c.1449C>G (p.Asn483Lys) c.1752C>G (p.Asn584Lys) c.1986C>G (p.Asn662Lys) c.1734+16819C>G (n.1734+16819C>G) | |
| 3 | g.32997237G>T | CA352000586 | GLB1 | c.1842C>A (p.Asn614Lys) c.1449C>A (p.Asn483Lys) c.1752C>A (p.Asn584Lys) c.1986C>A (p.Asn662Lys) c.1734+16819C>A (n.1734+16819C>A) | |
| 3 | g.32997238T>A | CA352000591 | GLB1 | c.1841A>T (p.Asn614Ile) c.1448A>T (p.Asn483Ile) c.1751A>T (p.Asn584Ile) c.1985A>T (p.Asn662Ile) c.1734+16818A>T (n.1734+16818A>T) | |
| 3 | g.32997238T>C | CA352000592 | GLB1 | c.1841A>G (p.Asn614Ser) c.1448A>G (p.Asn483Ser) c.1751A>G (p.Asn584Ser) c.1985A>G (p.Asn662Ser) c.1734+16818A>G (n.1734+16818A>G) | |
| 3 | g.32997238T>G | CA352000594 | GLB1 | c.1841A>C (p.Asn614Thr) c.1448A>C (p.Asn483Thr) c.1751A>C (p.Asn584Thr) c.1985A>C (p.Asn662Thr) c.1734+16818A>C (n.1734+16818A>C) | |
| 3 | g.32997240dup | CA2586971831 | GLB1 | c.1841dup (p.Asn614LysfsTer16) c.1448dup (p.Asn483LysfsTer16) c.1751dup (p.Asn584LysfsTer16) c.1985dup (p.Asn662LysfsTer16) c.1734+16818dup (n.1734+16818dup) | |
| 3 | g.32997239T>A | CA352000596 | GLB1 | c.1840A>T (p.Asn614Tyr) c.1447A>T (p.Asn483Tyr) c.1750A>T (p.Asn584Tyr) c.1984A>T (p.Asn662Tyr) c.1734+16817A>T (n.1734+16817A>T) | |
| 3 | g.32997239T>C | CA352000598 | GLB1 | c.1840A>G (p.Asn614Asp) c.1447A>G (p.Asn483Asp) c.1750A>G (p.Asn584Asp) c.1984A>G (p.Asn662Asp) c.1734+16817A>G (n.1734+16817A>G) | dbSNP |
| 3 | g.32997239T>G | CA352000600 | GLB1 | c.1840A>C (p.Asn614His) c.1447A>C (p.Asn483His) c.1750A>C (p.Asn584His) c.1984A>C (p.Asn662His) c.1734+16817A>C (n.1734+16817A>C) | |
| 3 | g.32997239T= | CA1355976955 | GLB1 | c.1840A= (p.Asn614=) c.1447A= (p.Asn483=) c.1750A= (p.Asn584=) c.1984A= (p.Asn662=) c.1734+16817A= (n.1734+16817A=) | |
| 3 | g.32997240T>A | CA432960340 | GLB1 | c.1839A>T (p.Pro613=) c.1446A>T (p.Pro482=) c.1749A>T (p.Pro583=) c.1983A>T (p.Pro661=) c.1734+16816A>T (n.1734+16816A>T) | COSMIC COSMIC |
| 3 | g.32997240T>C | CA432960342 | GLB1 | c.1839A>G (p.Pro613=) c.1446A>G (p.Pro482=) c.1749A>G (p.Pro583=) c.1983A>G (p.Pro661=) c.1734+16816A>G (n.1734+16816A>G) | |
| 3 | g.32997240T>G | CA432960343 | GLB1 | c.1839A>C (p.Pro613=) c.1446A>C (p.Pro482=) c.1749A>C (p.Pro583=) c.1983A>C (p.Pro661=) c.1734+16816A>C (n.1734+16816A>C) | |
| 3 | g.32997240_32997242delinsTGG | CA1355976956 | GLB1 | c.1837_1839delinsCCA (p.Pro613=) c.1444_1446delinsCCA (p.Pro482=) c.1747_1749delinsCCA (p.Pro583=) c.1981_1983delinsCCA (p.Pro661=) c.1734+16814_1734+16816delinsCCA (n.1734+16814_1734+16816delinsCCA) | |
| 3 | g.32997241G>A | CA352000605 | GLB1 | c.1838C>T (p.Pro613Leu) c.1445C>T (p.Pro482Leu) c.1748C>T (p.Pro583Leu) c.1982C>T (p.Pro661Leu) c.1734+16815C>T (n.1734+16815C>T) | |
| 3 | g.32997241G>C | CA352000602 | GLB1 | c.1838C>G (p.Pro613Arg) c.1445C>G (p.Pro482Arg) c.1748C>G (p.Pro583Arg) c.1982C>G (p.Pro661Arg) c.1734+16815C>G (n.1734+16815C>G) | |
| 3 | g.32997241G>T | CA352000604 | GLB1 | c.1838C>A (p.Pro613Gln) c.1445C>A (p.Pro482Gln) c.1748C>A (p.Pro583Gln) c.1982C>A (p.Pro661Gln) c.1734+16815C>A (n.1734+16815C>A) | |
| 3 | g.32997244del | CA2664926660 | GLB1 | c.1838del (p.Pro613GlnfsTer24) c.1445del (p.Pro482GlnfsTer24) c.1748del (p.Pro583GlnfsTer24) c.1982del (p.Pro661GlnfsTer24) c.1734+16815del (n.1734+16815del) | gnomAD v4 |
| 3 | g.32997243_32997244del | CA1139657921 | GLB1 | c.1837_1838del (p.Pro613LysfsTer16) c.1444_1445del (p.Pro482LysfsTer16) c.1747_1748del (p.Pro583LysfsTer16) c.1981_1982del (p.Pro661LysfsTer16) c.1734+16814_1734+16815del (n.1734+16814_1734+16815del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.32997242G>A | CA352000606 | GLB1 | c.1837C>T (p.Pro613Ser) c.1444C>T (p.Pro482Ser) c.1747C>T (p.Pro583Ser) c.1981C>T (p.Pro661Ser) c.1734+16814C>T (n.1734+16814C>T) | gnomAD v4 |
| 3 | g.32997242G>C | CA352000608 | GLB1 | c.1837C>G (p.Pro613Ala) c.1444C>G (p.Pro482Ala) c.1747C>G (p.Pro583Ala) c.1981C>G (p.Pro661Ala) c.1734+16814C>G (n.1734+16814C>G) | gnomAD v4 |
| 3 | g.32997242G>T | CA352000610 | GLB1 | c.1837C>A (p.Pro613Thr) c.1444C>A (p.Pro482Thr) c.1747C>A (p.Pro583Thr) c.1981C>A (p.Pro661Thr) c.1734+16814C>A (n.1734+16814C>A) | |
| 3 | g.32997243G>A | CA432960347 | GLB1 | c.1836C>T (p.Ala612=) c.1443C>T (p.Ala481=) c.1746C>T (p.Ala582=) c.1980C>T (p.Ala660=) c.1734+16813C>T (n.1734+16813C>T) | |
| 3 | g.32997243G>C | CA432960348 | GLB1 | c.1836C>G (p.Ala612=) c.1443C>G (p.Ala481=) c.1746C>G (p.Ala582=) c.1980C>G (p.Ala660=) c.1734+16813C>G (n.1734+16813C>G) | |
| 3 | g.32997243G>T | CA432960349 | GLB1 | c.1836C>A (p.Ala612=) c.1443C>A (p.Ala481=) c.1746C>A (p.Ala582=) c.1980C>A (p.Ala660=) c.1734+16813C>A (n.1734+16813C>A) | |
| 3 | g.32997244G>A | CA352000612 | GLB1 | c.1835C>T (p.Ala612Val) c.1442C>T (p.Ala481Val) c.1745C>T (p.Ala582Val) c.1979C>T (p.Ala660Val) c.1734+16812C>T (n.1734+16812C>T) | dbSNP gnomAD v4 |
| 3 | g.32997244G>C | CA352000614 | GLB1 | c.1835C>G (p.Ala612Gly) c.1442C>G (p.Ala481Gly) c.1745C>G (p.Ala582Gly) c.1979C>G (p.Ala660Gly) c.1734+16812C>G (n.1734+16812C>G) | |
| 3 | g.32997244G= | CA1355976957 | GLB1 | c.1835C= (p.Ala612=) c.1442C= (p.Ala481=) c.1745C= (p.Ala582=) c.1979C= (p.Ala660=) c.1734+16812C= (n.1734+16812C=) | |
| 3 | g.32997244G>T | CA352000616 | GLB1 | c.1835C>A (p.Ala612Asp) c.1442C>A (p.Ala481Asp) c.1745C>A (p.Ala582Asp) c.1979C>A (p.Ala660Asp) c.1734+16812C>A (n.1734+16812C>A) | |
| 3 | g.32997245C>A | CA352000618 | GLB1 | c.1834G>T (p.Ala612Ser) c.1441G>T (p.Ala481Ser) c.1744G>T (p.Ala582Ser) c.1978G>T (p.Ala660Ser) c.1734+16811G>T (n.1734+16811G>T) | |
| 3 | g.32997245C>G | CA352000620 | GLB1 | c.1834G>C (p.Ala612Pro) c.1441G>C (p.Ala481Pro) c.1744G>C (p.Ala582Pro) c.1978G>C (p.Ala660Pro) c.1734+16811G>C (n.1734+16811G>C) | |
| 3 | g.32997245C>T | CA352000621 | GLB1 | c.1834G>A (p.Ala612Thr) c.1441G>A (p.Ala481Thr) c.1744G>A (p.Ala582Thr) c.1978G>A (p.Ala660Thr) c.1734+16811G>A (n.1734+16811G>A) | |
| 3 | g.32997246C>A | CA432960351 | GLB1 | c.1833G>T (p.Ser611=) c.1440G>T (p.Ser480=) c.1743G>T (p.Ser581=) c.1977G>T (p.Ser659=) c.1734+16810G>T (n.1734+16810G>T) | |
| 3 | g.32997246C= | CA1355976958 | GLB1 | c.1833G= (p.Ser611=) c.1440G= (p.Ser480=) c.1743G= (p.Ser581=) c.1977G= (p.Ser659=) c.1734+16810G= (n.1734+16810G=) | |
| 3 | g.32997246C>G | CA432960352 | GLB1 | c.1833G>C (p.Ser611=) c.1440G>C (p.Ser480=) c.1743G>C (p.Ser581=) c.1977G>C (p.Ser659=) c.1734+16810G>C (n.1734+16810G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.32997246C>T | CA2299286 | GLB1 | c.1833G>A (p.Ser611=) c.1440G>A (p.Ser480=) c.1743G>A (p.Ser581=) c.1977G>A (p.Ser659=) c.1734+16810G>A (n.1734+16810G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997247G>A | CA352000625 | GLB1 | c.1832C>T (p.Ser611Leu) c.1439C>T (p.Ser480Leu) c.1742C>T (p.Ser581Leu) c.1976C>T (p.Ser659Leu) c.1734+16809C>T (n.1734+16809C>T) | gnomAD v4 |
| 3 | g.32997247G>C | CA352000627 | GLB1 | c.1832C>G (p.Ser611Trp) c.1439C>G (p.Ser480Trp) c.1742C>G (p.Ser581Trp) c.1976C>G (p.Ser659Trp) c.1734+16809C>G (n.1734+16809C>G) | |
| 3 | g.32997247G>T | CA352000628 | GLB1 | c.1832C>A (p.Ser611Ter) c.1439C>A (p.Ser480Ter) c.1742C>A (p.Ser581Ter) c.1976C>A (p.Ser659Ter) c.1734+16809C>A (n.1734+16809C>A) | |
| 3 | g.32997248A= | CA1355976959 | GLB1 | c.1831T= (p.Ser611=) c.1438T= (p.Ser480=) c.1741T= (p.Ser581=) c.1975T= (p.Ser659=) c.1734+16808T= (n.1734+16808T=) | |
| 3 | g.32997248A>C | CA352000630 | GLB1 | c.1831T>G (p.Ser611Ala) c.1438T>G (p.Ser480Ala) c.1741T>G (p.Ser581Ala) c.1975T>G (p.Ser659Ala) c.1734+16808T>G (n.1734+16808T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997248A>G | CA352000633 | GLB1 | c.1831T>C (p.Ser611Pro) c.1438T>C (p.Ser480Pro) c.1741T>C (p.Ser581Pro) c.1975T>C (p.Ser659Pro) c.1734+16808T>C (n.1734+16808T>C) | |
| 3 | g.32997248A>T | CA352000631 | GLB1 | c.1831T>A (p.Ser611Thr) c.1438T>A (p.Ser480Thr) c.1741T>A (p.Ser581Thr) c.1975T>A (p.Ser659Thr) c.1734+16808T>A (n.1734+16808T>A) | |
| 3 | g.32997249G>A | CA2299288 | GLB1 | c.1830C>T (p.Thr610=) c.1437C>T (p.Thr479=) c.1740C>T (p.Thr580=) c.1974C>T (p.Thr658=) c.1734+16807C>T (n.1734+16807C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997249G>C | CA2299287 | GLB1 | c.1830C>G (p.Thr610=) c.1437C>G (p.Thr479=) c.1740C>G (p.Thr580=) c.1974C>G (p.Thr658=) c.1734+16807C>G (n.1734+16807C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997249G= | CA1355976960 | GLB1 | c.1830C= (p.Thr610=) c.1437C= (p.Thr479=) c.1740C= (p.Thr580=) c.1974C= (p.Thr658=) c.1734+16807C= (n.1734+16807C=) | |
| 3 | g.32997249G>T | CA432960355 | GLB1 | c.1830C>A (p.Thr610=) c.1437C>A (p.Thr479=) c.1740C>A (p.Thr580=) c.1974C>A (p.Thr658=) c.1734+16807C>A (n.1734+16807C>A) | |
| 3 | g.32997250G>A | CA352000638 | GLB1 | c.1829C>T (p.Thr610Ile) c.1436C>T (p.Thr479Ile) c.1739C>T (p.Thr580Ile) c.1973C>T (p.Thr658Ile) c.1734+16806C>T (n.1734+16806C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.32997250G>C | CA352000640 | GLB1 | c.1829C>G (p.Thr610Ser) c.1436C>G (p.Thr479Ser) c.1739C>G (p.Thr580Ser) c.1973C>G (p.Thr658Ser) c.1734+16806C>G (n.1734+16806C>G) | |
| 3 | g.32997250G= | CA1355976961 | GLB1 | c.1829C= (p.Thr610=) c.1436C= (p.Thr479=) c.1739C= (p.Thr580=) c.1973C= (p.Thr658=) c.1734+16806C= (n.1734+16806C=) | |
| 3 | g.32997250G>T | CA2299289 | GLB1 | c.1829C>A (p.Thr610Asn) c.1436C>A (p.Thr479Asn) c.1739C>A (p.Thr580Asn) c.1973C>A (p.Thr658Asn) c.1734+16806C>A (n.1734+16806C>A) | dbSNP ExAC gnomAD v2 |
| 3 | g.32997251T>A | CA352000644 | GLB1 | c.1828A>T (p.Thr610Ser) c.1435A>T (p.Thr479Ser) c.1738A>T (p.Thr580Ser) c.1972A>T (p.Thr658Ser) c.1734+16805A>T (n.1734+16805A>T) | |
| 3 | g.32997251T>C | CA352000645 | GLB1 | c.1828A>G (p.Thr610Ala) c.1435A>G (p.Thr479Ala) c.1738A>G (p.Thr580Ala) c.1972A>G (p.Thr658Ala) c.1734+16805A>G (n.1734+16805A>G) | |
| 3 | g.32997251T>G | CA352000646 | GLB1 | c.1828A>C (p.Thr610Pro) c.1435A>C (p.Thr479Pro) c.1738A>C (p.Thr580Pro) c.1972A>C (p.Thr658Pro) c.1734+16805A>C (n.1734+16805A>C) | |
| 3 | g.32997251T= | CA1355976962 | GLB1 | c.1828A= (p.Thr610=) c.1435A= (p.Thr479=) c.1738A= (p.Thr580=) c.1972A= (p.Thr658=) c.1734+16805A= (n.1734+16805A=) | |
| 3 | g.32997251_32997254del | CA2586971832 | GLB1 | c.1825_1828del (p.Met609ProfsTer27) c.1432_1435del (p.Met478ProfsTer27) c.1735_1738del (p.Met579ProfsTer27) c.1969_1972del (p.Met657ProfsTer27) c.1734+16802_1734+16805del (n.1734+16802_1734+16805del) | |
| 3 | g.32997252C>A | CA352000650 | GLB1 | c.1827G>T (p.Met609Ile) c.1434G>T (p.Met478Ile) c.1737G>T (p.Met579Ile) c.1971G>T (p.Met657Ile) c.1734+16804G>T (n.1734+16804G>T) | |
| 3 | g.32997252C>G | CA352000652 | GLB1 | c.1827G>C (p.Met609Ile) c.1434G>C (p.Met478Ile) c.1737G>C (p.Met579Ile) c.1971G>C (p.Met657Ile) c.1734+16804G>C (n.1734+16804G>C) | |
| 3 | g.32997252C>T | CA352000654 | GLB1 | c.1827G>A (p.Met609Ile) c.1434G>A (p.Met478Ile) c.1737G>A (p.Met579Ile) c.1971G>A (p.Met657Ile) c.1734+16804G>A (n.1734+16804G>A) | COSMIC |
| 3 | g.32997252dup | CA2299290 | GLB1 | c.1827dup (p.Thr610AspfsTer20) c.1434dup (p.Thr479AspfsTer20) c.1737dup (p.Thr580AspfsTer20) c.1971dup (p.Thr658AspfsTer20) c.1734+16804dup (n.1734+16804dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |