| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99880689_99880691del | CA2574444576 | AGL | c.1793_1795del (p.Gly598del) n.2004_2006del c.1745_1747del (p.Gly582del) c.1742_1744del (p.Gly581del) c.53_55del (p.Gly18del) | |
| 1 | g.99880689G>A | CA341316524 | AGL | c.1793G>A (p.Gly598Glu) n.2004G>A c.1745G>A (p.Gly582Glu) c.1742G>A (p.Gly581Glu) c.53G>A (p.Gly18Glu) | |
| 1 | g.99880689G>C | CA341316529 | AGL | c.1793G>C (p.Gly598Ala) n.2004G>C c.1745G>C (p.Gly582Ala) c.1742G>C (p.Gly581Ala) c.53G>C (p.Gly18Ala) | |
| 1 | g.99880689G>T | CA341316531 | AGL | c.1793G>T (p.Gly598Val) n.2004G>T c.1745G>T (p.Gly582Val) c.1742G>T (p.Gly581Val) c.53G>T (p.Gly18Val) | |
| 1 | g.99880690A= | CA1183929036 | AGL | c.1794A= (p.Gly598=) n.2005A= c.1746A= (p.Gly582=) c.1743A= (p.Gly581=) c.54A= (p.Gly18=) | |
| 1 | g.99880690A>C | CA419080806 | AGL | c.1794A>C (p.Gly598=) n.2005A>C c.1746A>C (p.Gly582=) c.1743A>C (p.Gly581=) c.54A>C (p.Gly18=) | |
| 1 | g.99880690A>G | CA419080807 | AGL | c.1794A>G (p.Gly598=) n.2005A>G c.1746A>G (p.Gly582=) c.1743A>G (p.Gly581=) c.54A>G (p.Gly18=) | ClinVar dbSNP |
| 1 | g.99880690A>T | CA419080809 | AGL | c.1794A>T (p.Gly598=) n.2005A>T c.1746A>T (p.Gly582=) c.1743A>T (p.Gly581=) c.54A>T (p.Gly18=) | |
| 1 | g.99880691G>A | CA341316537 | AGL | c.1795G>A (p.Glu599Lys) n.2006G>A c.1747G>A (p.Glu583Lys) c.1744G>A (p.Glu582Lys) c.55G>A (p.Glu19Lys) | |
| 1 | g.99880691G>C | CA341316534 | AGL | c.1795G>C (p.Glu599Gln) n.2006G>C c.1747G>C (p.Glu583Gln) c.1744G>C (p.Glu582Gln) c.55G>C (p.Glu19Gln) | |
| 1 | g.99880691G>T | CA341316533 | AGL | c.1795G>T (p.Glu599Ter) n.2006G>T c.1747G>T (p.Glu583Ter) c.1744G>T (p.Glu582Ter) c.55G>T (p.Glu19Ter) | |
| 1 | g.99880692A>C | CA341316540 | AGL | c.1796A>C (p.Glu599Ala) n.2007A>C c.1748A>C (p.Glu583Ala) c.1745A>C (p.Glu582Ala) c.56A>C (p.Glu19Ala) | |
| 1 | g.99880692A>G | CA341316542 | AGL | c.1796A>G (p.Glu599Gly) n.2007A>G c.1748A>G (p.Glu583Gly) c.1745A>G (p.Glu582Gly) c.56A>G (p.Glu19Gly) | gnomAD v4 |
| 1 | g.99880692A>T | CA341316545 | AGL | c.1796A>T (p.Glu599Val) n.2007A>T c.1748A>T (p.Glu583Val) c.1745A>T (p.Glu582Val) c.56A>T (p.Glu19Val) | |
| 1 | g.99880693A= | CA1183929037 | AGL | c.1797A= (p.Glu599=) n.2008A= c.1749A= (p.Glu583=) c.1746A= (p.Glu582=) c.57A= (p.Glu19=) | |
| 1 | g.99880693A>C | CA341316548 | AGL | c.1797A>C (p.Glu599Asp) n.2008A>C c.1749A>C (p.Glu583Asp) c.1746A>C (p.Glu582Asp) c.57A>C (p.Glu19Asp) | |
| 1 | g.99880693A>G | CA966597 | AGL | c.1797A>G (p.Glu599=) n.2008A>G c.1749A>G (p.Glu583=) c.1746A>G (p.Glu582=) c.57A>G (p.Glu19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880693A>T | CA341316552 | AGL | c.1797A>T (p.Glu599Asp) n.2008A>T c.1749A>T (p.Glu583Asp) c.1746A>T (p.Glu582Asp) c.57A>T (p.Glu19Asp) | |
| 1 | g.99880694C>A | CA341316559 | AGL | c.1798C>A (p.Pro600Thr) n.2009C>A c.1750C>A (p.Pro584Thr) c.1747C>A (p.Pro583Thr) c.58C>A (p.Pro20Thr) | |
| 1 | g.99880694C>G | CA341316561 | AGL | c.1798C>G (p.Pro600Ala) n.2009C>G c.1750C>G (p.Pro584Ala) c.1747C>G (p.Pro583Ala) c.58C>G (p.Pro20Ala) | |
| 1 | g.99880694C>T | CA341316564 | AGL | c.1798C>T (p.Pro600Ser) n.2009C>T c.1750C>T (p.Pro584Ser) c.1747C>T (p.Pro583Ser) c.58C>T (p.Pro20Ser) | |
| 1 | g.99880695C>A | CA341316568 | AGL | c.1799C>A (p.Pro600His) n.2010C>A c.1751C>A (p.Pro584His) c.1748C>A (p.Pro583His) c.59C>A (p.Pro20His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99880695C= | CA1183929038 | AGL | c.1799C= (p.Pro600=) n.2010C= c.1751C= (p.Pro584=) c.1748C= (p.Pro583=) c.59C= (p.Pro20=) | |
| 1 | g.99880695C>G | CA341316569 | AGL | c.1799C>G (p.Pro600Arg) n.2010C>G c.1751C>G (p.Pro584Arg) c.1748C>G (p.Pro583Arg) c.59C>G (p.Pro20Arg) | |
| 1 | g.99880695C>T | CA341316571 | AGL | c.1799C>T (p.Pro600Leu) n.2010C>T c.1751C>T (p.Pro584Leu) c.1748C>T (p.Pro583Leu) c.59C>T (p.Pro20Leu) | dbSNP gnomAD v4 |
| 1 | g.99880696T>A | CA419080821 | AGL | c.1800T>A (p.Pro600=) n.2011T>A c.1752T>A (p.Pro584=) c.1749T>A (p.Pro583=) c.60T>A (p.Pro20=) | gnomAD v4 |
| 1 | g.99880696T>C | CA419080825 | AGL | c.1800T>C (p.Pro600=) n.2011T>C c.1752T>C (p.Pro584=) c.1749T>C (p.Pro583=) c.60T>C (p.Pro20=) | ClinVar gnomAD v4 |
| 1 | g.99880696T>G | CA419080826 | AGL | c.1800T>G (p.Pro600=) n.2011T>G c.1752T>G (p.Pro584=) c.1749T>G (p.Pro583=) c.60T>G (p.Pro20=) | ClinVar |
| 1 | g.99880697G>A | CA341316578 | AGL | c.1801G>A (p.Val601Ile) n.2012G>A c.1753G>A (p.Val585Ile) c.1750G>A (p.Val584Ile) c.61G>A (p.Val21Ile) | |
| 1 | g.99880697G>C | CA341316574 | AGL | c.1801G>C (p.Val601Leu) n.2012G>C c.1753G>C (p.Val585Leu) c.1750G>C (p.Val584Leu) c.61G>C (p.Val21Leu) | gnomAD v4 |
| 1 | g.99880697G>T | CA341316576 | AGL | c.1801G>T (p.Val601Phe) n.2012G>T c.1753G>T (p.Val585Phe) c.1750G>T (p.Val584Phe) c.61G>T (p.Val21Phe) | |
| 1 | g.99880698T>A | CA341316581 | AGL | c.1802T>A (p.Val601Asp) n.2013T>A c.1754T>A (p.Val585Asp) c.1751T>A (p.Val584Asp) c.62T>A (p.Val21Asp) | |
| 1 | g.99880698T>C | CA341316584 | AGL | c.1802T>C (p.Val601Ala) n.2013T>C c.1754T>C (p.Val585Ala) c.1751T>C (p.Val584Ala) c.62T>C (p.Val21Ala) | |
| 1 | g.99880698T>G | CA341316586 | AGL | c.1802T>G (p.Val601Gly) n.2013T>G c.1754T>G (p.Val585Gly) c.1751T>G (p.Val584Gly) c.62T>G (p.Val21Gly) | |
| 1 | g.99880699T>A | CA419080829 | AGL | c.1803T>A (p.Val601=) n.2014T>A c.1755T>A (p.Val585=) c.1752T>A (p.Val584=) c.63T>A (p.Val21=) | ClinVar dbSNP |
| 1 | g.99880699T>C | CA419080831 | AGL | c.1803T>C (p.Val601=) n.2014T>C c.1755T>C (p.Val585=) c.1752T>C (p.Val584=) c.63T>C (p.Val21=) | |
| 1 | g.99880699T>G | CA419080839 | AGL | c.1803T>G (p.Val601=) n.2014T>G c.1755T>G (p.Val585=) c.1752T>G (p.Val584=) c.63T>G (p.Val21=) | |
| 1 | g.99880700G>A | CA341316588 | AGL | c.1804G>A (p.Gly602Arg) n.2015G>A c.1756G>A (p.Gly586Arg) c.1753G>A (p.Gly585Arg) c.64G>A (p.Gly22Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99880700G>C | CA341316589 | AGL | c.1804G>C (p.Gly602Arg) n.2015G>C c.1756G>C (p.Gly586Arg) c.1753G>C (p.Gly585Arg) c.64G>C (p.Gly22Arg) | |
| 1 | g.99880700G= | CA1183929039 | AGL | c.1804G= (p.Gly602=) n.2015G= c.1756G= (p.Gly586=) c.1753G= (p.Gly585=) c.64G= (p.Gly22=) | |
| 1 | g.99880700G>T | CA341316592 | AGL | c.1804G>T (p.Gly602Ter) n.2015G>T c.1756G>T (p.Gly586Ter) c.1753G>T (p.Gly585Ter) c.64G>T (p.Gly22Ter) | |
| 1 | g.99880701G>A | CA341316594 | AGL | c.1805G>A (p.Gly602Glu) n.2016G>A c.1757G>A (p.Gly586Glu) c.1754G>A (p.Gly585Glu) c.65G>A (p.Gly22Glu) | |
| 1 | g.99880701G>C | CA341316596 | AGL | c.1805G>C (p.Gly602Ala) n.2016G>C c.1757G>C (p.Gly586Ala) c.1754G>C (p.Gly585Ala) c.65G>C (p.Gly22Ala) | |
| 1 | g.99880701G>T | CA341316598 | AGL | c.1805G>T (p.Gly602Val) n.2016G>T c.1757G>T (p.Gly586Val) c.1754G>T (p.Gly585Val) c.65G>T (p.Gly22Val) | gnomAD v4 |
| 1 | g.99880702del | CA2586967089 | AGL | c.1806del (p.Ser603ProfsTer7) n.2017del c.1758del (p.Ser587ProfsTer7) c.1755del (p.Ser586ProfsTer7) c.66del (p.Ser23ProfsTer7) | |
| 1 | g.99880702A>C | CA419080849 | AGL | c.1806A>C (p.Gly602=) n.2017A>C c.1758A>C (p.Gly586=) c.1755A>C (p.Gly585=) c.66A>C (p.Gly22=) | |
| 1 | g.99880702A>G | CA419080850 | AGL | c.1806A>G (p.Gly602=) n.2017A>G c.1758A>G (p.Gly586=) c.1755A>G (p.Gly585=) c.66A>G (p.Gly22=) | |
| 1 | g.99880702A>T | CA419080848 | AGL | c.1806A>T (p.Gly602=) n.2017A>T c.1758A>T (p.Gly586=) c.1755A>T (p.Gly585=) c.66A>T (p.Gly22=) | |
| 1 | g.99880703T>A | CA341316600 | AGL | c.1807T>A (p.Ser603Thr) n.2018T>A c.1759T>A (p.Ser587Thr) c.1756T>A (p.Ser586Thr) c.67T>A (p.Ser23Thr) | |
| 1 | g.99880703T>C | CA341316601 | AGL | c.1807T>C (p.Ser603Pro) n.2018T>C c.1759T>C (p.Ser587Pro) c.1756T>C (p.Ser586Pro) c.67T>C (p.Ser23Pro) | |
| 1 | g.99880703T>G | CA341316603 | AGL | c.1807T>G (p.Ser603Ala) n.2018T>G c.1759T>G (p.Ser587Ala) c.1756T>G (p.Ser586Ala) c.67T>G (p.Ser23Ala) | |
| 1 | g.99880704C>A | CA341316607 | AGL | c.1808C>A (p.Ser603Tyr) n.2019C>A c.1760C>A (p.Ser587Tyr) c.1757C>A (p.Ser586Tyr) c.68C>A (p.Ser23Tyr) | |
| 1 | g.99880704C= | CA1183929040 | AGL | c.1808C= (p.Ser603=) n.2019C= c.1760C= (p.Ser587=) c.1757C= (p.Ser586=) c.68C= (p.Ser23=) | |
| 1 | g.99880704C>G | CA341316609 | AGL | c.1808C>G (p.Ser603Cys) n.2019C>G c.1760C>G (p.Ser587Cys) c.1757C>G (p.Ser586Cys) c.68C>G (p.Ser23Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99880704C>T | CA341316606 | AGL | c.1808C>T (p.Ser603Phe) n.2019C>T c.1760C>T (p.Ser587Phe) c.1757C>T (p.Ser586Phe) c.68C>T (p.Ser23Phe) | |
| 1 | g.99880705C>A | CA419080863 | AGL | c.1809C>A (p.Ser603=) n.2020C>A c.1761C>A (p.Ser587=) c.1758C>A (p.Ser586=) c.69C>A (p.Ser23=) | |
| 1 | g.99880705C= | CA1141235446 | AGL | c.1809C= (p.Ser603=) n.2020C= c.1761C= (p.Ser587=) c.1758C= (p.Ser586=) c.69C= (p.Ser23=) | |
| 1 | g.99880705C>G | CA966598 | AGL | c.1809C>G (p.Ser603=) n.2020C>G c.1761C>G (p.Ser587=) c.1758C>G (p.Ser586=) c.69C>G (p.Ser23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880705C>T | CA419080861 | AGL | c.1809C>T (p.Ser603=) n.2020C>T c.1761C>T (p.Ser587=) c.1758C>T (p.Ser586=) c.69C>T (p.Ser23=) | ClinVar dbSNP |
| 1 | g.99880706T>A | CA341316614 | AGL | c.1810T>A (p.Phe604Ile) n.2021T>A c.1762T>A (p.Phe588Ile) c.1759T>A (p.Phe587Ile) c.70T>A (p.Phe24Ile) | |
| 1 | g.99880706T>C | CA341316621 | AGL | c.1810T>C (p.Phe604Leu) n.2021T>C c.1762T>C (p.Phe588Leu) c.1759T>C (p.Phe587Leu) c.70T>C (p.Phe24Leu) | |
| 1 | g.99880706T>G | CA966599 | AGL | c.1810T>G (p.Phe604Val) n.2021T>G c.1762T>G (p.Phe588Val) c.1759T>G (p.Phe587Val) c.70T>G (p.Phe24Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880706T= | CA1141596846 | AGL | c.1810T= (p.Phe604=) n.2021T= c.1762T= (p.Phe588=) c.1759T= (p.Phe587=) c.70T= (p.Phe24=) | |
| 1 | g.99880707T>A | CA341316623 | AGL | c.1811T>A (p.Phe604Tyr) n.2022T>A c.1763T>A (p.Phe588Tyr) c.1760T>A (p.Phe587Tyr) c.71T>A (p.Phe24Tyr) | |
| 1 | g.99880707T>C | CA341316626 | AGL | c.1811T>C (p.Phe604Ser) n.2022T>C c.1763T>C (p.Phe588Ser) c.1760T>C (p.Phe587Ser) c.71T>C (p.Phe24Ser) | |
| 1 | g.99880707T>G | CA341316631 | AGL | c.1811T>G (p.Phe604Cys) n.2022T>G c.1763T>G (p.Phe588Cys) c.1760T>G (p.Phe587Cys) c.71T>G (p.Phe24Cys) | |
| 1 | g.99880708T>A | CA341316633 | AGL | c.1812T>A (p.Phe604Leu) n.2023T>A c.1764T>A (p.Phe588Leu) c.1761T>A (p.Phe587Leu) c.72T>A (p.Phe24Leu) | |
| 1 | g.99880708T>C | CA419080879 | AGL | c.1812T>C (p.Phe604=) n.2023T>C c.1764T>C (p.Phe588=) c.1761T>C (p.Phe587=) c.72T>C (p.Phe24=) | gnomAD v4 |
| 1 | g.99880708T>G | CA341316635 | AGL | c.1812T>G (p.Phe604Leu) n.2023T>G c.1764T>G (p.Phe588Leu) c.1761T>G (p.Phe587Leu) c.72T>G (p.Phe24Leu) | gnomAD v4 |
| 1 | g.99880709G>A | CA341316638 | AGL | c.1813G>A (p.Val605Ile) n.2024G>A c.1765G>A (p.Val589Ile) c.1762G>A (p.Val588Ile) c.73G>A (p.Val25Ile) | gnomAD v4 |
| 1 | g.99880709G>C | CA341316640 | AGL | c.1813G>C (p.Val605Leu) n.2024G>C c.1765G>C (p.Val589Leu) c.1762G>C (p.Val588Leu) c.73G>C (p.Val25Leu) | |
| 1 | g.99880709G>T | CA341316641 | AGL | c.1813G>T (p.Val605Phe) n.2024G>T c.1765G>T (p.Val589Phe) c.1762G>T (p.Val588Phe) c.73G>T (p.Val25Phe) | |
| 1 | g.99880710T>A | CA341316644 | AGL | c.1814T>A (p.Val605Asp) n.2025T>A c.1766T>A (p.Val589Asp) c.1763T>A (p.Val588Asp) c.74T>A (p.Val25Asp) | |
| 1 | g.99880710T>C | CA341316647 | AGL | c.1814T>C (p.Val605Ala) n.2025T>C c.1766T>C (p.Val589Ala) c.1763T>C (p.Val588Ala) c.74T>C (p.Val25Ala) | |
| 1 | g.99880710T>G | CA341316649 | AGL | c.1814T>G (p.Val605Gly) n.2025T>G c.1766T>G (p.Val589Gly) c.1763T>G (p.Val588Gly) c.74T>G (p.Val25Gly) | |
| 1 | g.99880711T>A | CA419080887 | AGL | c.1815T>A (p.Val605=) n.2026T>A c.1767T>A (p.Val589=) c.1764T>A (p.Val588=) c.75T>A (p.Val25=) | |
| 1 | g.99880711T>C | CA419080889 | AGL | c.1815T>C (p.Val605=) n.2026T>C c.1767T>C (p.Val589=) c.1764T>C (p.Val588=) c.75T>C (p.Val25=) | ClinVar dbSNP |
| 1 | g.99880711T>G | CA419080890 | AGL | c.1815T>G (p.Val605=) n.2026T>G c.1767T>G (p.Val589=) c.1764T>G (p.Val588=) c.75T>G (p.Val25=) | |
| 1 | g.99880711T= | CA1183929041 | AGL | c.1815T= (p.Val605=) n.2026T= c.1767T= (p.Val589=) c.1764T= (p.Val588=) c.75T= (p.Val25=) | |
| 1 | g.99880712C>A | CA341316656 | AGL | c.1816C>A (p.Gln606Lys) n.2027C>A c.1768C>A (p.Gln590Lys) c.1765C>A (p.Gln589Lys) c.76C>A (p.Gln26Lys) | |
| 1 | g.99880712C= | CA1183929042 | AGL | c.1816C= (p.Gln606=) n.2027C= c.1768C= (p.Gln590=) c.1765C= (p.Gln589=) c.76C= (p.Gln26=) | |
| 1 | g.99880712C>G | CA341316654 | AGL | c.1816C>G (p.Gln606Glu) n.2027C>G c.1768C>G (p.Gln590Glu) c.1765C>G (p.Gln589Glu) c.76C>G (p.Gln26Glu) | |
| 1 | g.99880712C>T | CA341316652 | AGL | c.1816C>T (p.Gln606Ter) n.2027C>T c.1768C>T (p.Gln590Ter) c.1765C>T (p.Gln589Ter) c.76C>T (p.Gln26Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99880713A= | CA1183929043 | AGL | c.1817A= (p.Gln606=) n.2028A= c.1769A= (p.Gln590=) c.1766A= (p.Gln589=) c.77A= (p.Gln26=) | |
| 1 | g.99880713A>C | CA341316660 | AGL | c.1817A>C (p.Gln606Pro) n.2028A>C c.1769A>C (p.Gln590Pro) c.1766A>C (p.Gln589Pro) c.77A>C (p.Gln26Pro) | |
| 1 | g.99880713A>G | CA341316662 | AGL | c.1817A>G (p.Gln606Arg) n.2028A>G c.1769A>G (p.Gln590Arg) c.1766A>G (p.Gln589Arg) c.77A>G (p.Gln26Arg) | |
| 1 | g.99880713A>T | CA27515385 | AGL | c.1817A>T (p.Gln606Leu) n.2028A>T c.1769A>T (p.Gln590Leu) c.1766A>T (p.Gln589Leu) c.77A>T (p.Gln26Leu) | dbSNP |
| 1 | g.99880714G>A | CA419080906 | AGL | c.1818G>A (p.Gln606=) n.2029G>A c.1770G>A (p.Gln590=) c.1767G>A (p.Gln589=) c.78G>A (p.Gln26=) | gnomAD v4 |
| 1 | g.99880714G>C | CA341316670 | AGL | c.1818G>C (p.Gln606His) n.2029G>C c.1770G>C (p.Gln590His) c.1767G>C (p.Gln589His) c.78G>C (p.Gln26His) | |
| 1 | g.99880714G>T | CA341316673 | AGL | c.1818G>T (p.Gln606His) n.2029G>T c.1770G>T (p.Gln590His) c.1767G>T (p.Gln589His) c.78G>T (p.Gln26His) | |
| 1 | g.99880715C>A | CA341316677 | AGL | c.1819C>A (p.Pro607Thr) n.2030C>A c.1771C>A (p.Pro591Thr) c.1768C>A (p.Pro590Thr) c.79C>A (p.Pro27Thr) | |
| 1 | g.99880715C>G | CA341316679 | AGL | c.1819C>G (p.Pro607Ala) n.2030C>G c.1771C>G (p.Pro591Ala) c.1768C>G (p.Pro590Ala) c.79C>G (p.Pro27Ala) | |
| 1 | g.99880715C>T | CA341316681 | AGL | c.1819C>T (p.Pro607Ser) n.2030C>T c.1771C>T (p.Pro591Ser) c.1768C>T (p.Pro590Ser) c.79C>T (p.Pro27Ser) | gnomAD v4 |
| 1 | g.99880716C>A | CA966600 | AGL | c.1820C>A (p.Pro607His) n.2031C>A c.1772C>A (p.Pro591His) c.1769C>A (p.Pro590His) c.80C>A (p.Pro27His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880716C= | CA1183929044 | AGL | c.1820C= (p.Pro607=) n.2031C= c.1772C= (p.Pro591=) c.1769C= (p.Pro590=) c.80C= (p.Pro27=) | |
| 1 | g.99880716C>G | CA341316685 | AGL | c.1820C>G (p.Pro607Arg) n.2031C>G c.1772C>G (p.Pro591Arg) c.1769C>G (p.Pro590Arg) c.80C>G (p.Pro27Arg) | |
| 1 | g.99880716C>T | CA341316686 | AGL | c.1820C>T (p.Pro607Leu) n.2031C>T c.1772C>T (p.Pro591Leu) c.1769C>T (p.Pro590Leu) c.80C>T (p.Pro27Leu) | |
| 1 | g.99880717C>A | CA419080915 | AGL | c.1821C>A (p.Pro607=) n.2032C>A c.1773C>A (p.Pro591=) c.1770C>A (p.Pro590=) c.81C>A (p.Pro27=) | |
| 1 | g.99880717C= | CA1183929045 | AGL | c.1821C= (p.Pro607=) n.2032C= c.1773C= (p.Pro591=) c.1770C= (p.Pro590=) c.81C= (p.Pro27=) | |
| 1 | g.99880717C>G | CA419080916 | AGL | c.1821C>G (p.Pro607=) n.2032C>G c.1773C>G (p.Pro591=) c.1770C>G (p.Pro590=) c.81C>G (p.Pro27=) | ClinVar dbSNP |
| 1 | g.99880717C>T | CA419080918 | AGL | c.1821C>T (p.Pro607=) n.2032C>T c.1773C>T (p.Pro591=) c.1770C>T (p.Pro590=) c.81C>T (p.Pro27=) | gnomAD v4 |
| 1 | g.99880718T>A | CA341316692 | AGL | c.1822T>A (p.Cys608Ser) n.2033T>A c.1774T>A (p.Cys592Ser) c.1771T>A (p.Cys591Ser) c.82T>A (p.Cys28Ser) | |
| 1 | g.99880718T>C | CA27515390 | AGL | c.1822T>C (p.Cys608Arg) n.2033T>C c.1774T>C (p.Cys592Arg) c.1771T>C (p.Cys591Arg) c.82T>C (p.Cys28Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99880718T>G | CA341316688 | AGL | c.1822T>G (p.Cys608Gly) n.2033T>G c.1774T>G (p.Cys592Gly) c.1771T>G (p.Cys591Gly) c.82T>G (p.Cys28Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99880718T= | CA1183929046 | AGL | c.1822T= (p.Cys608=) n.2033T= c.1774T= (p.Cys592=) c.1771T= (p.Cys591=) c.82T= (p.Cys28=) | |
| 1 | g.99880719G>A | CA341316697 | AGL | c.1823G>A (p.Cys608Tyr) n.2034G>A c.1775G>A (p.Cys592Tyr) c.1772G>A (p.Cys591Tyr) c.83G>A (p.Cys28Tyr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99880719G>C | CA341316698 | AGL | c.1823G>C (p.Cys608Ser) n.2034G>C c.1775G>C (p.Cys592Ser) c.1772G>C (p.Cys591Ser) c.83G>C (p.Cys28Ser) | |
| 1 | g.99880719G= | CA1183929047 | AGL | c.1823G= (p.Cys608=) n.2034G= c.1775G= (p.Cys592=) c.1772G= (p.Cys591=) c.83G= (p.Cys28=) | |
| 1 | g.99880719G>T | CA341316700 | AGL | c.1823G>T (p.Cys608Phe) n.2034G>T c.1775G>T (p.Cys592Phe) c.1772G>T (p.Cys591Phe) c.83G>T (p.Cys28Phe) | |
| 1 | g.99880720T>A | CA341316701 | AGL | c.1824T>A (p.Cys608Ter) n.2035T>A c.1776T>A (p.Cys592Ter) c.1773T>A (p.Cys591Ter) c.84T>A (p.Cys28Ter) | |
| 1 | g.99880720T>C | CA419080936 | AGL | c.1824T>C (p.Cys608=) n.2035T>C c.1776T>C (p.Cys592=) c.1773T>C (p.Cys591=) c.84T>C (p.Cys28=) | |
| 1 | g.99880720T>G | CA341316703 | AGL | c.1824T>G (p.Cys608Trp) n.2035T>G c.1776T>G (p.Cys592Trp) c.1773T>G (p.Cys591Trp) c.84T>G (p.Cys28Trp) | |
| 1 | g.99880721T>A | CA341316705 | AGL | c.1825T>A (p.Leu609Met) n.2036T>A c.1777T>A (p.Leu593Met) c.1774T>A (p.Leu592Met) c.85T>A (p.Leu29Met) | |
| 1 | g.99880721T>C | CA419080939 | AGL | c.1825T>C (p.Leu609=) n.2036T>C c.1777T>C (p.Leu593=) c.1774T>C (p.Leu592=) c.85T>C (p.Leu29=) | |
| 1 | g.99880721T>G | CA341316709 | AGL | c.1825T>G (p.Leu609Val) n.2036T>G c.1777T>G (p.Leu593Val) c.1774T>G (p.Leu592Val) c.85T>G (p.Leu29Val) | |
| 1 | g.99880722T>A | CA341316712 | AGL | c.1826T>A (p.Leu609Ter) n.2037T>A c.1778T>A (p.Leu593Ter) c.1775T>A (p.Leu592Ter) c.86T>A (p.Leu29Ter) | |
| 1 | g.99880722T>C | CA341316714 | AGL | c.1826T>C (p.Leu609Ser) n.2037T>C c.1778T>C (p.Leu593Ser) c.1775T>C (p.Leu592Ser) c.86T>C (p.Leu29Ser) | |
| 1 | g.99880722T>G | CA341316717 | AGL | c.1826T>G (p.Leu609Trp) n.2037T>G c.1778T>G (p.Leu593Trp) c.1775T>G (p.Leu592Trp) c.86T>G (p.Leu29Trp) | gnomAD v4 |
| 1 | g.99880723G>A | CA419080947 | AGL | c.1827G>A (p.Leu609=) n.2038G>A c.1779G>A (p.Leu593=) c.1776G>A (p.Leu592=) c.87G>A (p.Leu29=) | |
| 1 | g.99880723G>C | CA341316719 | AGL | c.1827G>C (p.Leu609Phe) n.2038G>C c.1779G>C (p.Leu593Phe) c.1776G>C (p.Leu592Phe) c.87G>C (p.Leu29Phe) | |
| 1 | g.99880723G>T | CA341316720 | AGL | c.1827G>T (p.Leu609Phe) n.2038G>T c.1779G>T (p.Leu593Phe) c.1776G>T (p.Leu592Phe) c.87G>T (p.Leu29Phe) | |
| 1 | g.99880724A>C | CA419080954 | AGL | c.1828A>C (p.Arg610=) n.2039A>C c.1780A>C (p.Arg594=) c.1777A>C (p.Arg593=) c.88A>C (p.Arg30=) | ClinVar gnomAD v4 |
| 1 | g.99880724A>G | CA341316726 | AGL | c.1828A>G (p.Arg610Gly) n.2039A>G c.1780A>G (p.Arg594Gly) c.1777A>G (p.Arg593Gly) c.88A>G (p.Arg30Gly) | |
| 1 | g.99880724A>T | CA341316723 | AGL | c.1828A>T (p.Arg610Trp) n.2039A>T c.1780A>T (p.Arg594Trp) c.1777A>T (p.Arg593Trp) c.88A>T (p.Arg30Trp) | |
| 1 | g.99880725G>A | CA966601 | AGL | c.1829G>A (p.Arg610Lys) n.2040G>A c.1781G>A (p.Arg594Lys) c.1778G>A (p.Arg593Lys) c.89G>A (p.Arg30Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880725G>C | CA341316732 | AGL | c.1829G>C (p.Arg610Thr) n.2040G>C c.1781G>C (p.Arg594Thr) c.1778G>C (p.Arg593Thr) c.89G>C (p.Arg30Thr) | |
| 1 | g.99880725G= | CA1183929048 | AGL | c.1829G= (p.Arg610=) n.2040G= c.1781G= (p.Arg594=) c.1778G= (p.Arg593=) c.89G= (p.Arg30=) | |
| 1 | g.99880725G>T | CA341316735 | AGL | c.1829G>T (p.Arg610Met) n.2040G>T c.1781G>T (p.Arg594Met) c.1778G>T (p.Arg593Met) c.89G>T (p.Arg30Met) | |
| 1 | g.99880726del | CA2573131974 | AGL | c.1830del (p.Arg610SerfsTer3) n.2041del c.1782del (p.Arg594SerfsTer3) c.1779del (p.Arg593SerfsTer3) c.90del (p.Arg30SerfsTer3) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99880726G>A | CA419080960 | AGL | c.1830G>A (p.Arg610=) n.2041G>A c.1782G>A (p.Arg594=) c.1779G>A (p.Arg593=) c.90G>A (p.Arg30=) | |
| 1 | g.99880726G>C | CA341316737 | AGL | c.1830G>C (p.Arg610Ser) n.2041G>C c.1782G>C (p.Arg594Ser) c.1779G>C (p.Arg593Ser) c.90G>C (p.Arg30Ser) | |
| 1 | g.99880726G>T | CA341316740 | AGL | c.1830G>T (p.Arg610Ser) n.2041G>T c.1782G>T (p.Arg594Ser) c.1779G>T (p.Arg593Ser) c.90G>T (p.Arg30Ser) | |
| 1 | g.99880727C>A | CA341316743 | AGL | c.1831C>A (p.Pro611Thr) n.2042C>A c.1783C>A (p.Pro595Thr) c.1780C>A (p.Pro594Thr) c.91C>A (p.Pro31Thr) | |
| 1 | g.99880727C>G | CA341316745 | AGL | c.1831C>G (p.Pro611Ala) n.2042C>G c.1783C>G (p.Pro595Ala) c.1780C>G (p.Pro594Ala) c.91C>G (p.Pro31Ala) | |
| 1 | g.99880727C>T | CA341316748 | AGL | c.1831C>T (p.Pro611Ser) n.2042C>T c.1783C>T (p.Pro595Ser) c.1780C>T (p.Pro594Ser) c.91C>T (p.Pro31Ser) | |
| 1 | g.99880728C>A | CA966602 | AGL | c.1832C>A (p.Pro611His) n.2043C>A c.1784C>A (p.Pro595His) c.1781C>A (p.Pro594His) c.92C>A (p.Pro31His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880728C= | CA1149052883 | AGL | c.1832C= (p.Pro611=) n.2043C= c.1784C= (p.Pro595=) c.1781C= (p.Pro594=) c.92C= (p.Pro31=) | |
| 1 | g.99880728C>G | CA341316751 | AGL | c.1832C>G (p.Pro611Arg) n.2043C>G c.1784C>G (p.Pro595Arg) c.1781C>G (p.Pro594Arg) c.92C>G (p.Pro31Arg) | |
| 1 | g.99880728C>T | CA341316755 | AGL | c.1832C>T (p.Pro611Leu) n.2043C>T c.1784C>T (p.Pro595Leu) c.1781C>T (p.Pro594Leu) c.92C>T (p.Pro31Leu) | COSMIC COSMIC |
| 1 | g.99880729T>A | CA419080978 | AGL | c.1833T>A (p.Pro611=) n.2044T>A c.1785T>A (p.Pro595=) c.1782T>A (p.Pro594=) c.93T>A (p.Pro31=) | |
| 1 | g.99880729T>C | CA419080980 | AGL | c.1833T>C (p.Pro611=) n.2044T>C c.1785T>C (p.Pro595=) c.1782T>C (p.Pro594=) c.93T>C (p.Pro31=) | |
| 1 | g.99880729T>G | CA419080982 | AGL | c.1833T>G (p.Pro611=) n.2044T>G c.1785T>G (p.Pro595=) c.1782T>G (p.Pro594=) c.93T>G (p.Pro31=) | |
| 1 | g.99880730T>A | CA341316758 | AGL | c.1834T>A (p.Leu612Ile) n.2045T>A c.1786T>A (p.Leu596Ile) c.1783T>A (p.Leu595Ile) c.94T>A (p.Leu32Ile) | |
| 1 | g.99880730T>C | CA419080983 | AGL | c.1834T>C (p.Leu612=) n.2045T>C c.1786T>C (p.Leu596=) c.1783T>C (p.Leu595=) c.94T>C (p.Leu32=) | |
| 1 | g.99880730T>G | CA341316759 | AGL | c.1834T>G (p.Leu612Val) n.2045T>G c.1786T>G (p.Leu596Val) c.1783T>G (p.Leu595Val) c.94T>G (p.Leu32Val) | |
| 1 | g.99880731T>A | CA341316765 | AGL | c.1835T>A (p.Leu612Ter) n.2046T>A c.1787T>A (p.Leu596Ter) c.1784T>A (p.Leu595Ter) c.95T>A (p.Leu32Ter) | |
| 1 | g.99880731T>C | CA341316768 | AGL | c.1835T>C (p.Leu612Ser) n.2046T>C c.1787T>C (p.Leu596Ser) c.1784T>C (p.Leu595Ser) c.95T>C (p.Leu32Ser) | |
| 1 | g.99880731T>G | CA341316763 | AGL | c.1835T>G (p.Leu612Ter) n.2046T>G c.1787T>G (p.Leu596Ter) c.1784T>G (p.Leu595Ter) c.95T>G (p.Leu32Ter) | |
| 1 | g.99880732A>C | CA341316774 | AGL | c.1836A>C (p.Leu612Phe) n.2047A>C c.1788A>C (p.Leu596Phe) c.1785A>C (p.Leu595Phe) c.96A>C (p.Leu32Phe) | COSMIC |
| 1 | g.99880732A>G | CA419080989 | AGL | c.1836A>G (p.Leu612=) n.2047A>G c.1788A>G (p.Leu596=) c.1785A>G (p.Leu595=) c.96A>G (p.Leu32=) | ClinVar dbSNP |
| 1 | g.99880732A>T | CA341316777 | AGL | c.1836A>T (p.Leu612Phe) n.2047A>T c.1788A>T (p.Leu596Phe) c.1785A>T (p.Leu595Phe) c.96A>T (p.Leu32Phe) | |
| 1 | g.99880733A>C | CA341316780 | AGL | c.1837A>C (p.Met613Leu) n.2048A>C c.1789A>C (p.Met597Leu) c.1786A>C (p.Met596Leu) c.97A>C (p.Met33Leu) | |
| 1 | g.99880733A>G | CA341316781 | AGL | c.1837A>G (p.Met613Val) n.2048A>G c.1789A>G (p.Met597Val) c.1786A>G (p.Met596Val) c.97A>G (p.Met33Val) | gnomAD v4 |
| 1 | g.99880733A>T | CA341316793 | AGL | c.1837A>T (p.Met613Leu) n.2048A>T c.1789A>T (p.Met597Leu) c.1786A>T (p.Met596Leu) c.97A>T (p.Met33Leu) | |
| 1 | g.99880734T>A | CA341316802 | AGL | c.1838T>A (p.Met613Lys) n.2049T>A c.1790T>A (p.Met597Lys) c.1787T>A (p.Met596Lys) c.98T>A (p.Met33Lys) | |
| 1 | g.99880734T>C | CA341316798 | AGL | c.1838T>C (p.Met613Thr) n.2049T>C c.1790T>C (p.Met597Thr) c.1787T>C (p.Met596Thr) c.98T>C (p.Met33Thr) | |
| 1 | g.99880734T>G | CA341316797 | AGL | c.1838T>G (p.Met613Arg) n.2049T>G c.1790T>G (p.Met597Arg) c.1787T>G (p.Met596Arg) c.98T>G (p.Met33Arg) | |
| 1 | g.99880735G>A | CA341316809 | AGL | c.1839G>A (p.Met613Ile) n.2050G>A c.1791G>A (p.Met597Ile) c.1788G>A (p.Met596Ile) c.99G>A (p.Met33Ile) | |
| 1 | g.99880735G>C | CA341316812 | AGL | c.1839G>C (p.Met613Ile) n.2050G>C c.1791G>C (p.Met597Ile) c.1788G>C (p.Met596Ile) c.99G>C (p.Met33Ile) | |
| 1 | g.99880735G>T | CA341316815 | AGL | c.1839G>T (p.Met613Ile) n.2050G>T c.1791G>T (p.Met597Ile) c.1788G>T (p.Met596Ile) c.99G>T (p.Met33Ile) | |
| 1 | g.99880736C>A | CA341316819 | AGL | c.1840C>A (p.Pro614Thr) n.2051C>A c.1792C>A (p.Pro598Thr) c.1789C>A (p.Pro597Thr) c.100C>A (p.Pro34Thr) | |
| 1 | g.99880736C>G | CA341316824 | AGL | c.1840C>G (p.Pro614Ala) n.2051C>G c.1792C>G (p.Pro598Ala) c.1789C>G (p.Pro597Ala) c.100C>G (p.Pro34Ala) | dbSNP |
| 1 | g.99880736C>T | CA341316825 | AGL | c.1840C>T (p.Pro614Ser) n.2051C>T c.1792C>T (p.Pro598Ser) c.1789C>T (p.Pro597Ser) c.100C>T (p.Pro34Ser) | COSMIC COSMIC |
| 1 | g.99880737C>A | CA341316830 | AGL | c.1841C>A (p.Pro614Gln) n.2052C>A c.1793C>A (p.Pro598Gln) c.1790C>A (p.Pro597Gln) c.101C>A (p.Pro34Gln) | |
| 1 | g.99880737C>G | CA341316828 | AGL | c.1841C>G (p.Pro614Arg) n.2052C>G c.1793C>G (p.Pro598Arg) c.1790C>G (p.Pro597Arg) c.101C>G (p.Pro34Arg) | |
| 1 | g.99880737C>T | CA341316829 | AGL | c.1841C>T (p.Pro614Leu) n.2052C>T c.1793C>T (p.Pro598Leu) c.1790C>T (p.Pro597Leu) c.101C>T (p.Pro34Leu) | |
| 1 | g.99880738A= | CA1183929049 | AGL | c.1842A= (p.Pro614=) n.2053A= c.1794A= (p.Pro598=) c.1791A= (p.Pro597=) c.102A= (p.Pro34=) | |
| 1 | g.99880738A>C | CA419081010 | AGL | c.1842A>C (p.Pro614=) n.2053A>C c.1794A>C (p.Pro598=) c.1791A>C (p.Pro597=) c.102A>C (p.Pro34=) | |
| 1 | g.99880738A>G | CA419081011 | AGL | c.1842A>G (p.Pro614=) n.2053A>G c.1794A>G (p.Pro598=) c.1791A>G (p.Pro597=) c.102A>G (p.Pro34=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99880738A>T | CA419081013 | AGL | c.1842A>T (p.Pro614=) n.2053A>T c.1794A>T (p.Pro598=) c.1791A>T (p.Pro597=) c.102A>T (p.Pro34=) | |
| 1 | g.99880739G>A | CA341316831 | AGL | c.1843G>A (p.Ala615Thr) n.2054G>A c.1795G>A (p.Ala599Thr) c.1792G>A (p.Ala598Thr) c.103G>A (p.Ala35Thr) | |
| 1 | g.99880739G>C | CA966603 | AGL | c.1843G>C (p.Ala615Pro) n.2054G>C c.1795G>C (p.Ala599Pro) c.1792G>C (p.Ala598Pro) c.103G>C (p.Ala35Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880739G= | CA1183929050 | AGL | c.1843G= (p.Ala615=) n.2054G= c.1795G= (p.Ala599=) c.1792G= (p.Ala598=) c.103G= (p.Ala35=) | |
| 1 | g.99880739G>T | CA341316833 | AGL | c.1843G>T (p.Ala615Ser) n.2054G>T c.1795G>T (p.Ala599Ser) c.1792G>T (p.Ala598Ser) c.103G>T (p.Ala35Ser) | |
| 1 | g.99880740C>A | CA341316835 | AGL | c.1844C>A (p.Ala615Asp) n.2055C>A c.1796C>A (p.Ala599Asp) c.1793C>A (p.Ala598Asp) c.104C>A (p.Ala35Asp) | |
| 1 | g.99880740C>G | CA341316837 | AGL | c.1844C>G (p.Ala615Gly) n.2055C>G c.1796C>G (p.Ala599Gly) c.1793C>G (p.Ala598Gly) c.104C>G (p.Ala35Gly) | |
| 1 | g.99880740C>T | CA341316840 | AGL | c.1844C>T (p.Ala615Val) n.2055C>T c.1796C>T (p.Ala599Val) c.1793C>T (p.Ala598Val) c.104C>T (p.Ala35Val) | |
| 1 | g.99880741T>A | CA419081025 | AGL | c.1845T>A (p.Ala615=) n.2056T>A c.1797T>A (p.Ala599=) c.1794T>A (p.Ala598=) c.105T>A (p.Ala35=) | |
| 1 | g.99880741T>C | CA419081027 | AGL | c.1845T>C (p.Ala615=) n.2056T>C c.1797T>C (p.Ala599=) c.1794T>C (p.Ala598=) c.105T>C (p.Ala35=) | |
| 1 | g.99880741T>G | CA419081028 | AGL | c.1845T>G (p.Ala615=) n.2056T>G c.1797T>G (p.Ala599=) c.1794T>G (p.Ala598=) c.105T>G (p.Ala35=) | |
| 1 | g.99880742A= | CA1143774259 | AGL | c.1846A= (p.Ile616=) n.2057A= c.1798A= (p.Ile600=) c.1795A= (p.Ile599=) c.106A= (p.Ile36=) | |
| 1 | g.99880742A>C | CA341316846 | AGL | c.1846A>C (p.Ile616Leu) n.2057A>C c.1798A>C (p.Ile600Leu) c.1795A>C (p.Ile599Leu) c.106A>C (p.Ile36Leu) | |
| 1 | g.99880742A>G | CA966604 | AGL | c.1846A>G (p.Ile616Val) n.2057A>G c.1798A>G (p.Ile600Val) c.1795A>G (p.Ile599Val) c.106A>G (p.Ile36Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880742A>T | CA341316852 | AGL | c.1846A>T (p.Ile616Phe) n.2057A>T c.1798A>T (p.Ile600Phe) c.1795A>T (p.Ile599Phe) c.106A>T (p.Ile36Phe) | |
| 1 | g.99880743T>A | CA341316853 | AGL | c.1847T>A (p.Ile616Asn) n.2058T>A c.1799T>A (p.Ile600Asn) c.1796T>A (p.Ile599Asn) c.107T>A (p.Ile36Asn) | |
| 1 | g.99880743T>C | CA341316854 | AGL | c.1847T>C (p.Ile616Thr) n.2058T>C c.1799T>C (p.Ile600Thr) c.1796T>C (p.Ile599Thr) c.107T>C (p.Ile36Thr) | |
| 1 | g.99880743T>G | CA341316855 | AGL | c.1847T>G (p.Ile616Ser) n.2058T>G c.1799T>G (p.Ile600Ser) c.1796T>G (p.Ile599Ser) c.107T>G (p.Ile36Ser) | |
| 1 | g.99880744T>A | CA419081042 | AGL | c.1848T>A (p.Ile616=) n.2059T>A c.1800T>A (p.Ile600=) c.1797T>A (p.Ile599=) c.108T>A (p.Ile36=) | |
| 1 | g.99880744T>C | CA419081040 | AGL | c.1848T>C (p.Ile616=) n.2059T>C c.1800T>C (p.Ile600=) c.1797T>C (p.Ile599=) c.108T>C (p.Ile36=) | |
| 1 | g.99880744T>G | CA341316857 | AGL | c.1848T>G (p.Ile616Met) n.2059T>G c.1800T>G (p.Ile600Met) c.1797T>G (p.Ile599Met) c.108T>G (p.Ile36Met) | |
| 1 | g.99880745G>A | CA341316861 | AGL | c.1849G>A (p.Ala617Thr) n.2060G>A c.1801G>A (p.Ala601Thr) c.1798G>A (p.Ala600Thr) c.109G>A (p.Ala37Thr) | dbSNP |
| 1 | g.99880745G>C | CA341316867 | AGL | c.1849G>C (p.Ala617Pro) n.2060G>C c.1801G>C (p.Ala601Pro) c.1798G>C (p.Ala600Pro) c.109G>C (p.Ala37Pro) | |
| 1 | g.99880745G= | CA1183929051 | AGL | c.1849G= (p.Ala617=) n.2060G= c.1801G= (p.Ala601=) c.1798G= (p.Ala600=) c.109G= (p.Ala37=) | |
| 1 | g.99880745G>T | CA341316864 | AGL | c.1849G>T (p.Ala617Ser) n.2060G>T c.1801G>T (p.Ala601Ser) c.1798G>T (p.Ala600Ser) c.109G>T (p.Ala37Ser) | |
| 1 | g.99880746C>A | CA341316871 | AGL | c.1850C>A (p.Ala617Glu) n.2061C>A c.1802C>A (p.Ala601Glu) c.1799C>A (p.Ala600Glu) c.110C>A (p.Ala37Glu) | |
| 1 | g.99880746C>G | CA341316874 | AGL | c.1850C>G (p.Ala617Gly) n.2061C>G c.1802C>G (p.Ala601Gly) c.1799C>G (p.Ala600Gly) c.110C>G (p.Ala37Gly) | |
| 1 | g.99880746C>T | CA341316879 | AGL | c.1850C>T (p.Ala617Val) n.2061C>T c.1802C>T (p.Ala601Val) c.1799C>T (p.Ala600Val) c.110C>T (p.Ala37Val) | |
| 1 | g.99880747A= | CA1183929052 | AGL | c.1851A= (p.Ala617=) n.2062A= c.1803A= (p.Ala601=) c.1800A= (p.Ala600=) c.111A= (p.Ala37=) | |
| 1 | g.99880747A>C | CA966605 | AGL | c.1851A>C (p.Ala617=) n.2062A>C c.1803A>C (p.Ala601=) c.1800A>C (p.Ala600=) c.111A>C (p.Ala37=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880747A>G | CA419081052 | AGL | c.1851A>G (p.Ala617=) n.2062A>G c.1803A>G (p.Ala601=) c.1800A>G (p.Ala600=) c.111A>G (p.Ala37=) | |
| 1 | g.99880747A>T | CA419081051 | AGL | c.1851A>T (p.Ala617=) n.2062A>T c.1803A>T (p.Ala601=) c.1800A>T (p.Ala600=) c.111A>T (p.Ala37=) | |
| 1 | g.99880748C>A | CA341316882 | AGL | c.1852C>A (p.His618Asn) n.2063C>A c.1804C>A (p.His602Asn) c.1801C>A (p.His601Asn) c.112C>A (p.His38Asn) | |
| 1 | g.99880748C>G | CA341316883 | AGL | c.1852C>G (p.His618Asp) n.2063C>G c.1804C>G (p.His602Asp) c.1801C>G (p.His601Asp) c.112C>G (p.His38Asp) | |
| 1 | g.99880748C>T | CA341316890 | AGL | c.1852C>T (p.His618Tyr) n.2063C>T c.1804C>T (p.His602Tyr) c.1801C>T (p.His601Tyr) c.112C>T (p.His38Tyr) | gnomAD v4 |
| 1 | g.99880749A>C | CA341316892 | AGL | c.1853A>C (p.His618Pro) n.2064A>C c.1805A>C (p.His602Pro) c.1802A>C (p.His601Pro) c.113A>C (p.His38Pro) | gnomAD v4 |
| 1 | g.99880749A>G | CA341316896 | AGL | c.1853A>G (p.His618Arg) n.2064A>G c.1805A>G (p.His602Arg) c.1802A>G (p.His601Arg) c.113A>G (p.His38Arg) | |
| 1 | g.99880749A>T | CA341316899 | AGL | c.1853A>T (p.His618Leu) n.2064A>T c.1805A>T (p.His602Leu) c.1802A>T (p.His601Leu) c.113A>T (p.His38Leu) | |
| 1 | g.99880750T>A | CA341316902 | AGL | c.1854T>A (p.His618Gln) n.2065T>A c.1806T>A (p.His602Gln) c.1803T>A (p.His601Gln) c.114T>A (p.His38Gln) | |
| 1 | g.99880750T>C | CA419081063 | AGL | c.1854T>C (p.His618=) n.2065T>C c.1806T>C (p.His602=) c.1803T>C (p.His601=) c.114T>C (p.His38=) | |
| 1 | g.99880750T>G | CA341316903 | AGL | c.1854T>G (p.His618Gln) n.2065T>G c.1806T>G (p.His602Gln) c.1803T>G (p.His601Gln) c.114T>G (p.His38Gln) | |
| 1 | g.99880751G>A | CA341316914 | AGL | c.1855G>A (p.Ala619Thr) n.2066G>A c.1807G>A (p.Ala603Thr) c.1804G>A (p.Ala602Thr) c.115G>A (p.Ala39Thr) | |
| 1 | g.99880751G>C | CA341316917 | AGL | c.1855G>C (p.Ala619Pro) n.2066G>C c.1807G>C (p.Ala603Pro) c.1804G>C (p.Ala602Pro) c.115G>C (p.Ala39Pro) | gnomAD v4 |
| 1 | g.99880751G= | CA1183929053 | AGL | c.1855G= (p.Ala619=) n.2066G= c.1807G= (p.Ala603=) c.1804G= (p.Ala602=) c.115G= (p.Ala39=) | |
| 1 | g.99880751G>T | CA341316907 | AGL | c.1855G>T (p.Ala619Ser) n.2066G>T c.1807G>T (p.Ala603Ser) c.1804G>T (p.Ala602Ser) c.115G>T (p.Ala39Ser) | dbSNP |
| 1 | g.99880752C>A | CA341316921 | AGL | c.1856C>A (p.Ala619Asp) n.2067C>A c.1808C>A (p.Ala603Asp) c.1805C>A (p.Ala602Asp) c.116C>A (p.Ala39Asp) | dbSNP |
| 1 | g.99880752C= | CA1183929054 | AGL | c.1856C= (p.Ala619=) n.2067C= c.1808C= (p.Ala603=) c.1805C= (p.Ala602=) c.116C= (p.Ala39=) | |
| 1 | g.99880752C>G | CA341316924 | AGL | c.1856C>G (p.Ala619Gly) n.2067C>G c.1808C>G (p.Ala603Gly) c.1805C>G (p.Ala602Gly) c.116C>G (p.Ala39Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99880752C>T | CA341316927 | AGL | c.1856C>T (p.Ala619Val) n.2067C>T c.1808C>T (p.Ala603Val) c.1805C>T (p.Ala602Val) c.116C>T (p.Ala39Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99880754dup | CA2580063389 | AGL | c.1858dup (p.Leu620ProfsTer8) n.2069dup c.1810dup (p.Leu604ProfsTer8) c.1807dup (p.Leu603ProfsTer8) c.118dup (p.Leu40ProfsTer8) | ClinVar |
| 1 | g.99880753C>A | CA419081073 | AGL | c.1857C>A (p.Ala619=) n.2068C>A c.1809C>A (p.Ala603=) c.1806C>A (p.Ala602=) c.117C>A (p.Ala39=) | |
| 1 | g.99880753C>G | CA419081074 | AGL | c.1857C>G (p.Ala619=) n.2068C>G c.1809C>G (p.Ala603=) c.1806C>G (p.Ala602=) c.117C>G (p.Ala39=) | |
| 1 | g.99880753C>T | CA419081076 | AGL | c.1857C>T (p.Ala619=) n.2068C>T c.1809C>T (p.Ala603=) c.1806C>T (p.Ala602=) c.117C>T (p.Ala39=) | |
| 1 | g.99880754C>A | CA341316930 | AGL | c.1858C>A (p.Leu620Met) n.2069C>A c.1810C>A (p.Leu604Met) c.1807C>A (p.Leu603Met) c.118C>A (p.Leu40Met) | |
| 1 | g.99880754C= | CA1143450035 | AGL | c.1858C= (p.Leu620=) n.2069C= c.1810C= (p.Leu604=) c.1807C= (p.Leu603=) c.118C= (p.Leu40=) | |
| 1 | g.99880754C>G | CA966606 | AGL | c.1858C>G (p.Leu620Val) n.2069C>G c.1810C>G (p.Leu604Val) c.1807C>G (p.Leu603Val) c.118C>G (p.Leu40Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880754C>T | CA419081088 | AGL | c.1858C>T (p.Leu620=) n.2069C>T c.1810C>T (p.Leu604=) c.1807C>T (p.Leu603=) c.118C>T (p.Leu40=) | ClinVar gnomAD v4 |
| 1 | g.99880754_99880755del | CA2580063390 | AGL | c.1858_1859del (p.Leu620ValfsTer7) n.2069_2070del c.1810_1811del (p.Leu604ValfsTer7) c.1807_1808del (p.Leu603ValfsTer7) c.118_119del (p.Leu40ValfsTer7) | ClinVar gnomAD v4 |
| 1 | g.99880755T>A | CA341316936 | AGL | c.1859T>A (p.Leu620Gln) n.2070T>A c.1811T>A (p.Leu604Gln) c.1808T>A (p.Leu603Gln) c.119T>A (p.Leu40Gln) | |
| 1 | g.99880755T>C | CA341316933 | AGL | c.1859T>C (p.Leu620Pro) n.2070T>C c.1811T>C (p.Leu604Pro) c.1808T>C (p.Leu603Pro) c.119T>C (p.Leu40Pro) | ClinVar |
| 1 | g.99880755T>G | CA341316934 | AGL | c.1859T>G (p.Leu620Arg) n.2070T>G c.1811T>G (p.Leu604Arg) c.1808T>G (p.Leu603Arg) c.119T>G (p.Leu40Arg) | |
| 1 | g.99880755_99880765del | CA2586967090 | AGL | c.1859_1869del (p.Leu620HisfsTer4) n.2070_2080del c.1811_1821del (p.Leu604HisfsTer4) c.1808_1818del (p.Leu603HisfsTer4) c.119_129del (p.Leu40HisfsTer4) | |
| 1 | g.99880756G>A | CA419081094 | AGL | c.1860G>A (p.Leu620=) n.2071G>A c.1812G>A (p.Leu604=) c.1809G>A (p.Leu603=) c.120G>A (p.Leu40=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880756G>C | CA419081096 | AGL | c.1860G>C (p.Leu620=) n.2071G>C c.1812G>C (p.Leu604=) c.1809G>C (p.Leu603=) c.120G>C (p.Leu40=) | ClinVar dbSNP |
| 1 | g.99880756G= | CA1183929055 | AGL | c.1860G= (p.Leu620=) n.2071G= c.1812G= (p.Leu604=) c.1809G= (p.Leu603=) c.120G= (p.Leu40=) | |
| 1 | g.99880756G>T | CA419081099 | AGL | c.1860G>T (p.Leu620=) n.2071G>T c.1812G>T (p.Leu604=) c.1809G>T (p.Leu603=) c.120G>T (p.Leu40=) | |
| 1 | g.99880757T>A | CA341316939 | AGL | c.1861T>A (p.Phe621Ile) n.2072T>A c.1813T>A (p.Phe605Ile) c.1810T>A (p.Phe604Ile) c.121T>A (p.Phe41Ile) | |
| 1 | g.99880757T>C | CA341316941 | AGL | c.1861T>C (p.Phe621Leu) n.2072T>C c.1813T>C (p.Phe605Leu) c.1810T>C (p.Phe604Leu) c.121T>C (p.Phe41Leu) | |
| 1 | g.99880757T>G | CA341316949 | AGL | c.1861T>G (p.Phe621Val) n.2072T>G c.1813T>G (p.Phe605Val) c.1810T>G (p.Phe604Val) c.121T>G (p.Phe41Val) | |
| 1 | g.99880758T>A | CA341316953 | AGL | c.1862T>A (p.Phe621Tyr) n.2073T>A c.1814T>A (p.Phe605Tyr) c.1811T>A (p.Phe604Tyr) c.122T>A (p.Phe41Tyr) | |
| 1 | g.99880758T>C | CA341316955 | AGL | c.1862T>C (p.Phe621Ser) n.2073T>C c.1814T>C (p.Phe605Ser) c.1811T>C (p.Phe604Ser) c.122T>C (p.Phe41Ser) | |
| 1 | g.99880758T>G | CA341316958 | AGL | c.1862T>G (p.Phe621Cys) n.2073T>G c.1814T>G (p.Phe605Cys) c.1811T>G (p.Phe604Cys) c.122T>G (p.Phe41Cys) | |
| 1 | g.99880759T>A | CA341316963 | AGL | c.1863T>A (p.Phe621Leu) n.2074T>A c.1815T>A (p.Phe605Leu) c.1812T>A (p.Phe604Leu) c.123T>A (p.Phe41Leu) | gnomAD v4 |
| 1 | g.99880759T>C | CA419081111 | AGL | c.1863T>C (p.Phe621=) n.2074T>C c.1815T>C (p.Phe605=) c.1812T>C (p.Phe604=) c.123T>C (p.Phe41=) | dbSNP |
| 1 | g.99880759T>G | CA341316961 | AGL | c.1863T>G (p.Phe621Leu) n.2074T>G c.1815T>G (p.Phe605Leu) c.1812T>G (p.Phe604Leu) c.123T>G (p.Phe41Leu) | ClinVar gnomAD v4 |
| 1 | g.99880759T= | CA1183929056 | AGL | c.1863T= (p.Phe621=) n.2074T= c.1815T= (p.Phe605=) c.1812T= (p.Phe604=) c.123T= (p.Phe41=) | |
| 1 | g.99880760A= | CA1142058402 | AGL | c.1864A= (p.Met622=) n.2075A= c.1816A= (p.Met606=) c.1813A= (p.Met605=) c.124A= (p.Met42=) | |
| 1 | g.99880760A>C | CA966607 | AGL | c.1864A>C (p.Met622Leu) n.2075A>C c.1816A>C (p.Met606Leu) c.1813A>C (p.Met605Leu) c.124A>C (p.Met42Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880760A>G | CA341316977 | AGL | c.1864A>G (p.Met622Val) n.2075A>G c.1816A>G (p.Met606Val) c.1813A>G (p.Met605Val) c.124A>G (p.Met42Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99880760A>T | CA341316973 | AGL | c.1864A>T (p.Met622Leu) n.2075A>T c.1816A>T (p.Met606Leu) c.1813A>T (p.Met605Leu) c.124A>T (p.Met42Leu) | |
| 1 | g.99880762_99880765dup | CA2573131976 | AGL | c.1866_1869dup (p.Ile624GlyfsTer5) n.2077_2080dup c.1818_1821dup (p.Ile608GlyfsTer5) c.1815_1818dup (p.Ile607GlyfsTer5) c.126_129dup (p.Ile44GlyfsTer5) | ClinVar dbSNP |
| 1 | g.99880761T>A | CA341316978 | AGL | c.1865T>A (p.Met622Lys) n.2076T>A c.1817T>A (p.Met606Lys) c.1814T>A (p.Met605Lys) c.125T>A (p.Met42Lys) | |
| 1 | g.99880761T>C | CA341316981 | AGL | c.1865T>C (p.Met622Thr) n.2076T>C c.1817T>C (p.Met606Thr) c.1814T>C (p.Met605Thr) c.125T>C (p.Met42Thr) | |
| 1 | g.99880761T>G | CA341316980 | AGL | c.1865T>G (p.Met622Arg) n.2076T>G c.1817T>G (p.Met606Arg) c.1814T>G (p.Met605Arg) c.125T>G (p.Met42Arg) | |
| 1 | g.99880762G>A | CA341316983 | AGL | c.1866G>A (p.Met622Ile) n.2077G>A c.1818G>A (p.Met606Ile) c.1815G>A (p.Met605Ile) c.126G>A (p.Met42Ile) | |
| 1 | g.99880762G>C | CA341316989 | AGL | c.1866G>C (p.Met622Ile) n.2077G>C c.1818G>C (p.Met606Ile) c.1815G>C (p.Met605Ile) c.126G>C (p.Met42Ile) | |
| 1 | g.99880762G>T | CA341316985 | AGL | c.1866G>T (p.Met622Ile) n.2077G>T c.1818G>T (p.Met606Ile) c.1815G>T (p.Met605Ile) c.126G>T (p.Met42Ile) | |
| 1 | g.99880763G>A | CA341316990 | AGL | c.1867G>A (p.Asp623Asn) n.2078G>A c.1819G>A (p.Asp607Asn) c.1816G>A (p.Asp606Asn) c.127G>A (p.Asp43Asn) | |
| 1 | g.99880763G>C | CA341316992 | AGL | c.1867G>C (p.Asp623His) n.2078G>C c.1819G>C (p.Asp607His) c.1816G>C (p.Asp606His) c.127G>C (p.Asp43His) | |
| 1 | g.99880763G>T | CA341316994 | AGL | c.1867G>T (p.Asp623Tyr) n.2078G>T c.1819G>T (p.Asp607Tyr) c.1816G>T (p.Asp606Tyr) c.127G>T (p.Asp43Tyr) | |
| 1 | g.99880764A>C | CA341316997 | AGL | c.1868A>C (p.Asp623Ala) n.2079A>C c.1820A>C (p.Asp607Ala) c.1817A>C (p.Asp606Ala) c.128A>C (p.Asp43Ala) | |
| 1 | g.99880764A>G | CA341316998 | AGL | c.1868A>G (p.Asp623Gly) n.2079A>G c.1820A>G (p.Asp607Gly) c.1817A>G (p.Asp606Gly) c.128A>G (p.Asp43Gly) | |
| 1 | g.99880764A>T | CA341316999 | AGL | c.1868A>T (p.Asp623Val) n.2079A>T c.1820A>T (p.Asp607Val) c.1817A>T (p.Asp606Val) c.128A>T (p.Asp43Val) | |
| 1 | g.99880765T>A | CA341317000 | AGL | c.1869T>A (p.Asp623Glu) n.2080T>A c.1821T>A (p.Asp607Glu) c.1818T>A (p.Asp606Glu) c.129T>A (p.Asp43Glu) | |
| 1 | g.99880765T>C | CA419081151 | AGL | c.1869T>C (p.Asp623=) n.2080T>C c.1821T>C (p.Asp607=) c.1818T>C (p.Asp606=) c.129T>C (p.Asp43=) | |
| 1 | g.99880765T>G | CA341317001 | AGL | c.1869T>G (p.Asp623Glu) n.2080T>G c.1821T>G (p.Asp607Glu) c.1818T>G (p.Asp606Glu) c.129T>G (p.Asp43Glu) | |
| 1 | g.99880766A>C | CA341317005 | AGL | c.1870A>C (p.Ile624Leu) n.2081A>C c.1822A>C (p.Ile608Leu) c.1819A>C (p.Ile607Leu) c.130A>C (p.Ile44Leu) | |
| 1 | g.99880766A>G | CA341317008 | AGL | c.1870A>G (p.Ile624Val) n.2081A>G c.1822A>G (p.Ile608Val) c.1819A>G (p.Ile607Val) c.130A>G (p.Ile44Val) | gnomAD v4 |
| 1 | g.99880766A>T | CA341317010 | AGL | c.1870A>T (p.Ile624Phe) n.2081A>T c.1822A>T (p.Ile608Phe) c.1819A>T (p.Ile607Phe) c.130A>T (p.Ile44Phe) | |
| 1 | g.99880767T>A | CA341317021 | AGL | c.1871T>A (p.Ile624Asn) n.2082T>A c.1823T>A (p.Ile608Asn) c.1820T>A (p.Ile607Asn) c.131T>A (p.Ile44Asn) | |
| 1 | g.99880767T>C | CA341317014 | AGL | c.1871T>C (p.Ile624Thr) n.2082T>C c.1823T>C (p.Ile608Thr) c.1820T>C (p.Ile607Thr) c.131T>C (p.Ile44Thr) | |
| 1 | g.99880767T>G | CA341317019 | AGL | c.1871T>G (p.Ile624Ser) n.2082T>G c.1823T>G (p.Ile608Ser) c.1820T>G (p.Ile607Ser) c.131T>G (p.Ile44Ser) | |
| 1 | g.99880768T>A | CA419081163 | AGL | c.1872T>A (p.Ile624=) n.2083T>A c.1824T>A (p.Ile608=) c.1821T>A (p.Ile607=) c.132T>A (p.Ile44=) | |
| 1 | g.99880768T>C | CA419081167 | AGL | c.1872T>C (p.Ile624=) n.2083T>C c.1824T>C (p.Ile608=) c.1821T>C (p.Ile607=) c.132T>C (p.Ile44=) | gnomAD v4 |
| 1 | g.99880768T>G | CA341317023 | AGL | c.1872T>G (p.Ile624Met) n.2083T>G c.1824T>G (p.Ile608Met) c.1821T>G (p.Ile607Met) c.132T>G (p.Ile44Met) | |
| 1 | g.99880769A= | CA1183929057 | AGL | c.1873A= (p.Thr625=) n.2084A= c.1825A= (p.Thr609=) c.1822A= (p.Thr608=) c.133A= (p.Thr45=) | |
| 1 | g.99880769A>C | CA341317026 | AGL | c.1873A>C (p.Thr625Pro) n.2084A>C c.1825A>C (p.Thr609Pro) c.1822A>C (p.Thr608Pro) c.133A>C (p.Thr45Pro) | dbSNP |
| 1 | g.99880769A>G | CA341317030 | AGL | c.1873A>G (p.Thr625Ala) n.2084A>G c.1825A>G (p.Thr609Ala) c.1822A>G (p.Thr608Ala) c.133A>G (p.Thr45Ala) | gnomAD v4 |
| 1 | g.99880769A>T | CA341317032 | AGL | c.1873A>T (p.Thr625Ser) n.2084A>T c.1825A>T (p.Thr609Ser) c.1822A>T (p.Thr608Ser) c.133A>T (p.Thr45Ser) | |
| 1 | g.99880770C>A | CA341317033 | AGL | c.1874C>A (p.Thr625Lys) n.2085C>A c.1826C>A (p.Thr609Lys) c.1823C>A (p.Thr608Lys) c.134C>A (p.Thr45Lys) | COSMIC |
| 1 | g.99880770C= | CA1142186520 | AGL | c.1874C= (p.Thr625=) n.2085C= c.1826C= (p.Thr609=) c.1823C= (p.Thr608=) c.134C= (p.Thr45=) | |
| 1 | g.99880770C>G | CA341317035 | AGL | c.1874C>G (p.Thr625Arg) n.2085C>G c.1826C>G (p.Thr609Arg) c.1823C>G (p.Thr608Arg) c.134C>G (p.Thr45Arg) | |
| 1 | g.99880770C>T | CA966608 | AGL | c.1874C>T (p.Thr625Met) n.2085C>T c.1826C>T (p.Thr609Met) c.1823C>T (p.Thr608Met) c.134C>T (p.Thr45Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.99880771G>A | CA966610 | AGL | c.1875G>A (p.Thr625=) n.2086G>A c.1827G>A (p.Thr609=) c.1824G>A (p.Thr608=) c.135G>A (p.Thr45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880771G>C | CA966611 | AGL | c.1875G>C (p.Thr625=) n.2086G>C c.1827G>C (p.Thr609=) c.1824G>C (p.Thr608=) c.135G>C (p.Thr45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880771G= | CA1141836047 | AGL | c.1875G= (p.Thr625=) n.2086G= c.1827G= (p.Thr609=) c.1824G= (p.Thr608=) c.135G= (p.Thr45=) | |
| 1 | g.99880771G>T | CA966609 | AGL | c.1875G>T (p.Thr625=) n.2086G>T c.1827G>T (p.Thr609=) c.1824G>T (p.Thr608=) c.135G>T (p.Thr45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880772C>A | CA341317059 | AGL | c.1876C>A (p.His626Asn) n.2087C>A c.1828C>A (p.His610Asn) c.1825C>A (p.His609Asn) c.136C>A (p.His46Asn) | |
| 1 | g.99880772C= | CA1183929058 | AGL | c.1876C= (p.His626=) n.2087C= c.1828C= (p.His610=) c.1825C= (p.His609=) c.136C= (p.His46=) | |
| 1 | g.99880772C>G | CA341317057 | AGL | c.1876C>G (p.His626Asp) n.2087C>G c.1828C>G (p.His610Asp) c.1825C>G (p.His609Asp) c.136C>G (p.His46Asp) | |
| 1 | g.99880772C>T | CA341317051 | AGL | c.1876C>T (p.His626Tyr) n.2087C>T c.1828C>T (p.His610Tyr) c.1825C>T (p.His609Tyr) c.136C>T (p.His46Tyr) | dbSNP gnomAD v4 |
| 1 | g.99880773A= | CA1183929059 | AGL | c.1877A= (p.His626=) n.2088A= c.1829A= (p.His610=) c.1826A= (p.His609=) c.137A= (p.His46=) | |
| 1 | g.99880773A>C | CA341317061 | AGL | c.1877A>C (p.His626Pro) n.2088A>C c.1829A>C (p.His610Pro) c.1826A>C (p.His609Pro) c.137A>C (p.His46Pro) | |
| 1 | g.99880773A>G | CA341317062 | AGL | c.1877A>G (p.His626Arg) n.2088A>G c.1829A>G (p.His610Arg) c.1826A>G (p.His609Arg) c.137A>G (p.His46Arg) | ClinVar dbSNP |
| 1 | g.99880773A>T | CA341317063 | AGL | c.1877A>T (p.His626Leu) n.2088A>T c.1829A>T (p.His610Leu) c.1826A>T (p.His609Leu) c.137A>T (p.His46Leu) | |
| 1 | g.99880774T>A | CA341317065 | AGL | c.1878T>A (p.His626Gln) n.2089T>A c.1830T>A (p.His610Gln) c.1827T>A (p.His609Gln) c.138T>A (p.His46Gln) | COSMIC COSMIC |
| 1 | g.99880774T>C | CA419081210 | AGL | c.1878T>C (p.His626=) n.2089T>C c.1830T>C (p.His610=) c.1827T>C (p.His609=) c.138T>C (p.His46=) | |
| 1 | g.99880774T>G | CA341317067 | AGL | c.1878T>G (p.His626Gln) n.2089T>G c.1830T>G (p.His610Gln) c.1827T>G (p.His609Gln) c.138T>G (p.His46Gln) | |
| 1 | g.99880775G>A | CA341317068 | AGL | c.1879G>A (p.Asp627Asn) n.2090G>A c.1831G>A (p.Asp611Asn) c.1828G>A (p.Asp610Asn) c.139G>A (p.Asp47Asn) | |
| 1 | g.99880775G>C | CA341317070 | AGL | c.1879G>C (p.Asp627His) n.2090G>C c.1831G>C (p.Asp611His) c.1828G>C (p.Asp610His) c.139G>C (p.Asp47His) | |
| 1 | g.99880775G= | CA1183929060 | AGL | c.1879G= (p.Asp627=) n.2090G= c.1831G= (p.Asp611=) c.1828G= (p.Asp610=) c.139G= (p.Asp47=) | |
| 1 | g.99880775G>T | CA341317071 | AGL | c.1879G>T (p.Asp627Tyr) n.2090G>T c.1831G>T (p.Asp611Tyr) c.1828G>T (p.Asp610Tyr) c.139G>T (p.Asp47Tyr) | ClinVar dbSNP |
| 1 | g.99880776A= | CA1183929061 | AGL | c.1880A= (p.Asp627=) n.2091A= c.1832A= (p.Asp611=) c.1829A= (p.Asp610=) c.140A= (p.Asp47=) | |
| 1 | g.99880776A>C | CA341317073 | AGL | c.1880A>C (p.Asp627Ala) n.2091A>C c.1832A>C (p.Asp611Ala) c.1829A>C (p.Asp610Ala) c.140A>C (p.Asp47Ala) | |
| 1 | g.99880776A>G | CA966612 | AGL | c.1880A>G (p.Asp627Gly) n.2091A>G c.1832A>G (p.Asp611Gly) c.1829A>G (p.Asp610Gly) c.140A>G (p.Asp47Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880776A>T | CA341317074 | AGL | c.1880A>T (p.Asp627Val) n.2091A>T c.1832A>T (p.Asp611Val) c.1829A>T (p.Asp610Val) c.140A>T (p.Asp47Val) | gnomAD v4 |
| 1 | g.99880778_99880780del | CA2646735231 | AGL | c.1882_1884del (p.Asn628del) n.2093_2095del c.1834_1836del (p.Asn612del) c.1831_1833del (p.Asn611del) c.142_144del (p.Asn48del) | gnomAD v4 |
| 1 | g.99880777T>A | CA341317075 | AGL | c.1881T>A (p.Asp627Glu) n.2092T>A c.1833T>A (p.Asp611Glu) c.1830T>A (p.Asp610Glu) c.141T>A (p.Asp47Glu) | |
| 1 | g.99880777T>C | CA419081215 | AGL | c.1881T>C (p.Asp627=) n.2092T>C c.1833T>C (p.Asp611=) c.1830T>C (p.Asp610=) c.141T>C (p.Asp47=) | |
| 1 | g.99880777T>G | CA341317077 | AGL | c.1881T>G (p.Asp627Glu) n.2092T>G c.1833T>G (p.Asp611Glu) c.1830T>G (p.Asp610Glu) c.141T>G (p.Asp47Glu) | |
| 1 | g.99880778A>C | CA341317079 | AGL | c.1882A>C (p.Asn628His) n.2093A>C c.1834A>C (p.Asn612His) c.1831A>C (p.Asn611His) c.142A>C (p.Asn48His) | ClinVar |
| 1 | g.99880778A>G | CA341317083 | AGL | c.1882A>G (p.Asn628Asp) n.2093A>G c.1834A>G (p.Asn612Asp) c.1831A>G (p.Asn611Asp) c.142A>G (p.Asn48Asp) | |
| 1 | g.99880778A>T | CA341317081 | AGL | c.1882A>T (p.Asn628Tyr) n.2093A>T c.1834A>T (p.Asn612Tyr) c.1831A>T (p.Asn611Tyr) c.142A>T (p.Asn48Tyr) | |
| 1 | g.99880779dup | CA2582341923 | AGL | c.1883dup (p.Asn628LysfsTer2) n.2094dup c.1835dup (p.Asn612LysfsTer2) c.1832dup (p.Asn611LysfsTer2) c.143dup (p.Asn48LysfsTer2) | ClinVar |
| 1 | g.99880779A= | CA1183929062 | AGL | c.1883A= (p.Asn628=) n.2094A= c.1835A= (p.Asn612=) c.1832A= (p.Asn611=) c.143A= (p.Asn48=) | |
| 1 | g.99880779A>C | CA341317084 | AGL | c.1883A>C (p.Asn628Thr) n.2094A>C c.1835A>C (p.Asn612Thr) c.1832A>C (p.Asn611Thr) c.143A>C (p.Asn48Thr) | |
| 1 | g.99880779A>G | CA341317085 | AGL | c.1883A>G (p.Asn628Ser) n.2094A>G c.1835A>G (p.Asn612Ser) c.1832A>G (p.Asn611Ser) c.143A>G (p.Asn48Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99880779A>T | CA341317088 | AGL | c.1883A>T (p.Asn628Ile) n.2094A>T c.1835A>T (p.Asn612Ile) c.1832A>T (p.Asn611Ile) c.143A>T (p.Asn48Ile) | |
| 1 | g.99880780T>A | CA341317093 | AGL | c.1884T>A (p.Asn628Lys) n.2095T>A c.1836T>A (p.Asn612Lys) c.1833T>A (p.Asn611Lys) c.144T>A (p.Asn48Lys) | |
| 1 | g.99880780T>C | CA419081223 | AGL | c.1884T>C (p.Asn628=) n.2095T>C c.1836T>C (p.Asn612=) c.1833T>C (p.Asn611=) c.144T>C (p.Asn48=) | |
| 1 | g.99880780T>G | CA341317095 | AGL | c.1884T>G (p.Asn628Lys) n.2095T>G c.1836T>G (p.Asn612Lys) c.1833T>G (p.Asn611Lys) c.144T>G (p.Asn48Lys) | |
| 1 | g.99880781G>A | CA966613 | AGL | c.1885G>A (p.Glu629Lys) n.2096G>A c.1837G>A (p.Glu613Lys) c.1834G>A (p.Glu612Lys) c.145G>A (p.Glu49Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880781G>C | CA341317099 | AGL | c.1885G>C (p.Glu629Gln) n.2096G>C c.1837G>C (p.Glu613Gln) c.1834G>C (p.Glu612Gln) c.145G>C (p.Glu49Gln) | |
| 1 | g.99880781G= | CA1142091189 | AGL | c.1885G= (p.Glu629=) n.2096G= c.1837G= (p.Glu613=) c.1834G= (p.Glu612=) c.145G= (p.Glu49=) | |
| 1 | g.99880781G>T | CA341317101 | AGL | c.1885G>T (p.Glu629Ter) n.2096G>T c.1837G>T (p.Glu613Ter) c.1834G>T (p.Glu612Ter) c.145G>T (p.Glu49Ter) | |
| 1 | g.99880782A>C | CA341317103 | AGL | c.1886A>C (p.Glu629Ala) n.2097A>C c.1838A>C (p.Glu613Ala) c.1835A>C (p.Glu612Ala) c.146A>C (p.Glu49Ala) | |
| 1 | g.99880782A>G | CA341317105 | AGL | c.1886A>G (p.Glu629Gly) n.2097A>G c.1838A>G (p.Glu613Gly) c.1835A>G (p.Glu612Gly) c.146A>G (p.Glu49Gly) | |
| 1 | g.99880782A>T | CA341317108 | AGL | c.1886A>T (p.Glu629Val) n.2097A>T c.1838A>T (p.Glu613Val) c.1835A>T (p.Glu612Val) c.146A>T (p.Glu49Val) | |
| 1 | g.99880783G>A | CA419081234 | AGL | c.1887G>A (p.Glu629=) n.2098G>A c.1839G>A (p.Glu613=) c.1836G>A (p.Glu612=) c.147G>A (p.Glu49=) | ClinVar |
| 1 | g.99880783G>C | CA341317110 | AGL | c.1887G>C (p.Glu629Asp) n.2098G>C c.1839G>C (p.Glu613Asp) c.1836G>C (p.Glu612Asp) c.147G>C (p.Glu49Asp) | ClinVar |
| 1 | g.99880783G>T | CA341317114 | AGL | c.1887G>T (p.Glu629Asp) n.2098G>T c.1839G>T (p.Glu613Asp) c.1836G>T (p.Glu612Asp) c.147G>T (p.Glu49Asp) | |
| 1 | g.99880784T>A | CA341317117 | AGL | c.1888T>A (p.Cys630Ser) n.2099T>A c.1840T>A (p.Cys614Ser) c.1837T>A (p.Cys613Ser) c.148T>A (p.Cys50Ser) | |
| 1 | g.99880784T>C | CA341317124 | AGL | c.1888T>C (p.Cys630Arg) n.2099T>C c.1840T>C (p.Cys614Arg) c.1837T>C (p.Cys613Arg) c.148T>C (p.Cys50Arg) | |
| 1 | g.99880784T>G | CA341317119 | AGL | c.1888T>G (p.Cys630Gly) n.2099T>G c.1840T>G (p.Cys614Gly) c.1837T>G (p.Cys613Gly) c.148T>G (p.Cys50Gly) | gnomAD v4 |
| 1 | g.99880785G>A | CA966615 | AGL | c.1889G>A (p.Cys630Tyr) n.2100G>A c.1841G>A (p.Cys614Tyr) c.1838G>A (p.Cys613Tyr) c.149G>A (p.Cys50Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99880785G>C | CA341317128 | AGL | c.1889G>C (p.Cys630Ser) n.2100G>C c.1841G>C (p.Cys614Ser) c.1838G>C (p.Cys613Ser) c.149G>C (p.Cys50Ser) | |
| 1 | g.99880785G= | CA1183929063 | AGL | c.1889G= (p.Cys630=) n.2100G= c.1841G= (p.Cys614=) c.1838G= (p.Cys613=) c.149G= (p.Cys50=) | |
| 1 | g.99880785G>T | CA966614 | AGL | c.1889G>T (p.Cys630Phe) n.2100G>T c.1841G>T (p.Cys614Phe) c.1838G>T (p.Cys613Phe) c.149G>T (p.Cys50Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99880786T>A | CA341317133 | AGL | c.1890T>A (p.Cys630Ter) n.2101T>A c.1842T>A (p.Cys614Ter) c.1839T>A (p.Cys613Ter) c.150T>A (p.Cys50Ter) | ClinVar dbSNP |
| 1 | g.99880786T>C | CA419081250 | AGL | c.1890T>C (p.Cys630=) n.2101T>C c.1842T>C (p.Cys614=) c.1839T>C (p.Cys613=) c.150T>C (p.Cys50=) | |
| 1 | g.99880786T>G | CA341317140 | AGL | c.1890T>G (p.Cys630Trp) n.2101T>G c.1842T>G (p.Cys614Trp) c.1839T>G (p.Cys613Trp) c.150T>G (p.Cys50Trp) | |
| 1 | g.99880786T= | CA1183929064 | AGL | c.1890T= (p.Cys630=) n.2101T= c.1842T= (p.Cys614=) c.1839T= (p.Cys613=) c.150T= (p.Cys50=) | |
| 1 | g.99880787C>A | CA341317143 | AGL | c.1891C>A (p.Pro631Thr) n.2102C>A c.1843C>A (p.Pro615Thr) c.1840C>A (p.Pro614Thr) c.151C>A (p.Pro51Thr) | |
| 1 | g.99880787C>G | CA341317144 | AGL | c.1891C>G (p.Pro631Ala) n.2102C>G c.1843C>G (p.Pro615Ala) c.1840C>G (p.Pro614Ala) c.151C>G (p.Pro51Ala) | |
| 1 | g.99880787C>T | CA341317145 | AGL | c.1891C>T (p.Pro631Ser) n.2102C>T c.1843C>T (p.Pro615Ser) c.1840C>T (p.Pro614Ser) c.151C>T (p.Pro51Ser) | |
| 1 | g.99880788C>A | CA341317146 | AGL | c.1892C>A (p.Pro631His) n.2103C>A c.1844C>A (p.Pro615His) c.1841C>A (p.Pro614His) c.152C>A (p.Pro51His) | dbSNP gnomAD v4 |
| 1 | g.99880788C= | CA1183929065 | AGL | c.1892C= (p.Pro631=) n.2103C= c.1844C= (p.Pro615=) c.1841C= (p.Pro614=) c.152C= (p.Pro51=) | |
| 1 | g.99880788C>G | CA341317147 | AGL | c.1892C>G (p.Pro631Arg) n.2103C>G c.1844C>G (p.Pro615Arg) c.1841C>G (p.Pro614Arg) c.152C>G (p.Pro51Arg) | ClinVar dbSNP |
| 1 | g.99880788C>T | CA341317150 | AGL | c.1892C>T (p.Pro631Leu) n.2103C>T c.1844C>T (p.Pro615Leu) c.1841C>T (p.Pro614Leu) c.152C>T (p.Pro51Leu) | dbSNP gnomAD v4 |
| 1 | g.99880789T>A | CA419081259 | AGL | c.1893T>A (p.Pro631=) n.2104T>A c.1845T>A (p.Pro615=) c.1842T>A (p.Pro614=) c.153T>A (p.Pro51=) | |
| 1 | g.99880789T>C | CA419081262 | AGL | c.1893T>C (p.Pro631=) n.2104T>C c.1845T>C (p.Pro615=) c.1842T>C (p.Pro614=) c.153T>C (p.Pro51=) | COSMIC |
| 1 | g.99880789T>G | CA419081260 | AGL | c.1893T>G (p.Pro631=) n.2104T>G c.1845T>G (p.Pro615=) c.1842T>G (p.Pro614=) c.153T>G (p.Pro51=) |