Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44254530A>C | CA399782654 | SLC4A1 | c.2023T>G (p.Phe675Val) c.925T>G (p.Phe309Val) c.1828T>G (p.Phe610Val) c.1933T>G (p.Phe645Val) | |
17 | g.44254530A>G | CA399782655 | SLC4A1 | c.2023T>C (p.Phe675Leu) c.925T>C (p.Phe309Leu) c.1828T>C (p.Phe610Leu) c.1933T>C (p.Phe645Leu) | |
17 | g.44254530A>T | CA399782656 | SLC4A1 | c.2023T>A (p.Phe675Ile) c.925T>A (p.Phe309Ile) c.1828T>A (p.Phe610Ile) c.1933T>A (p.Phe645Ile) | |
17 | g.44254531G>A | CA500285357 | SLC4A1 | c.2022C>T (p.Val674=) c.924C>T (p.Val308=) c.1827C>T (p.Val609=) c.1932C>T (p.Val644=) | |
17 | g.44254531G>C | CA500285359 | SLC4A1 | c.2022C>G (p.Val674=) c.924C>G (p.Val308=) c.1827C>G (p.Val609=) c.1932C>G (p.Val644=) | |
17 | g.44254531G>T | CA500285358 | SLC4A1 | c.2022C>A (p.Val674=) c.924C>A (p.Val308=) c.1827C>A (p.Val609=) c.1932C>A (p.Val644=) | |
17 | g.44254532A>C | CA399782657 | SLC4A1 | c.2021T>G (p.Val674Gly) c.923T>G (p.Val308Gly) c.1826T>G (p.Val609Gly) c.1931T>G (p.Val644Gly) | |
17 | g.44254532A>G | CA399782658 | SLC4A1 | c.2021T>C (p.Val674Ala) c.923T>C (p.Val308Ala) c.1826T>C (p.Val609Ala) c.1931T>C (p.Val644Ala) | |
17 | g.44254532A>T | CA399782659 | SLC4A1 | c.2021T>A (p.Val674Asp) c.923T>A (p.Val308Asp) c.1826T>A (p.Val609Asp) c.1931T>A (p.Val644Asp) | |
17 | g.44254533C>A | CA399782660 | SLC4A1 | c.2020G>T (p.Val674Phe) c.922G>T (p.Val308Phe) c.1825G>T (p.Val609Phe) c.1930G>T (p.Val644Phe) | |
17 | g.44254533C= | CA2261308259 | SLC4A1 | c.2020G= (p.Val674=) c.922G= (p.Val308=) c.1825G= (p.Val609=) c.1930G= (p.Val644=) | |
17 | g.44254533C>G | CA399782661 | SLC4A1 | c.2020G>C (p.Val674Leu) c.922G>C (p.Val308Leu) c.1825G>C (p.Val609Leu) c.1930G>C (p.Val644Leu) | |
17 | g.44254533C>T | CA8600147 | SLC4A1 | c.2020G>A (p.Val674Ile) c.922G>A (p.Val308Ile) c.1825G>A (p.Val609Ile) c.1930G>A (p.Val644Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254534C>A | CA500285363 | SLC4A1 | c.2019G>T (p.Leu673=) c.921G>T (p.Leu307=) c.1824G>T (p.Leu608=) c.1929G>T (p.Leu643=) | |
17 | g.44254534C= | CA2261308260 | SLC4A1 | c.2019G= (p.Leu673=) c.921G= (p.Leu307=) c.1824G= (p.Leu608=) c.1929G= (p.Leu643=) | |
17 | g.44254534C>G | CA500285364 | SLC4A1 | c.2019G>C (p.Leu673=) c.921G>C (p.Leu307=) c.1824G>C (p.Leu608=) c.1929G>C (p.Leu643=) | |
17 | g.44254534C>T | CA500285365 | SLC4A1 | c.2019G>A (p.Leu673=) c.921G>A (p.Leu307=) c.1824G>A (p.Leu608=) c.1929G>A (p.Leu643=) | ClinVar dbSNP gnomAD v4 |
17 | g.44254535A>C | CA399782664 | SLC4A1 | c.2018T>G (p.Leu673Arg) c.920T>G (p.Leu307Arg) c.1823T>G (p.Leu608Arg) c.1928T>G (p.Leu643Arg) | |
17 | g.44254535A>G | CA399782665 | SLC4A1 | c.2018T>C (p.Leu673Pro) c.920T>C (p.Leu307Pro) c.1823T>C (p.Leu608Pro) c.1928T>C (p.Leu643Pro) | ClinVar dbSNP |
17 | g.44254535A>T | CA399782662 | SLC4A1 | c.2018T>A (p.Leu673Gln) c.920T>A (p.Leu307Gln) c.1823T>A (p.Leu608Gln) c.1928T>A (p.Leu643Gln) | |
17 | g.44254536G>A | CA500285368 | SLC4A1 | c.2017C>T (p.Leu673=) c.919C>T (p.Leu307=) c.1822C>T (p.Leu608=) c.1927C>T (p.Leu643=) | gnomAD v4 COSMIC |
17 | g.44254536G>C | CA399782666 | SLC4A1 | c.2017C>G (p.Leu673Val) c.919C>G (p.Leu307Val) c.1822C>G (p.Leu608Val) c.1927C>G (p.Leu643Val) | |
17 | g.44254536G>T | CA399782667 | SLC4A1 | c.2017C>A (p.Leu673Met) c.919C>A (p.Leu307Met) c.1822C>A (p.Leu608Met) c.1927C>A (p.Leu643Met) | |
17 | g.44254537C>A | CA500285369 | SLC4A1 | c.2016G>T (p.Leu672=) c.918G>T (p.Leu306=) c.1821G>T (p.Leu607=) c.1926G>T (p.Leu642=) | |
17 | g.44254537C>G | CA500285372 | SLC4A1 | c.2016G>C (p.Leu672=) c.918G>C (p.Leu306=) c.1821G>C (p.Leu607=) c.1926G>C (p.Leu642=) | |
17 | g.44254537C>T | CA500285370 | SLC4A1 | c.2016G>A (p.Leu672=) c.918G>A (p.Leu306=) c.1821G>A (p.Leu607=) c.1926G>A (p.Leu642=) | gnomAD v4 |
17 | g.44254538A>C | CA399782668 | SLC4A1 | c.2015T>G (p.Leu672Arg) c.917T>G (p.Leu306Arg) c.1820T>G (p.Leu607Arg) c.1925T>G (p.Leu642Arg) | |
17 | g.44254538A>G | CA399782669 | SLC4A1 | c.2015T>C (p.Leu672Pro) c.917T>C (p.Leu306Pro) c.1820T>C (p.Leu607Pro) c.1925T>C (p.Leu642Pro) | |
17 | g.44254538A>T | CA399782670 | SLC4A1 | c.2015T>A (p.Leu672Gln) c.917T>A (p.Leu306Gln) c.1820T>A (p.Leu607Gln) c.1925T>A (p.Leu642Gln) | |
17 | g.44254539G>A | CA500285375 | SLC4A1 | c.2014C>T (p.Leu672=) c.916C>T (p.Leu306=) c.1819C>T (p.Leu607=) c.1924C>T (p.Leu642=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254539G>C | CA399782671 | SLC4A1 | c.2014C>G (p.Leu672Val) c.916C>G (p.Leu306Val) c.1819C>G (p.Leu607Val) c.1924C>G (p.Leu642Val) | |
17 | g.44254539G= | CA2261308261 | SLC4A1 | c.2014C= (p.Leu672=) c.916C= (p.Leu306=) c.1819C= (p.Leu607=) c.1924C= (p.Leu642=) | |
17 | g.44254539G>T | CA399782673 | SLC4A1 | c.2014C>A (p.Leu672Met) c.916C>A (p.Leu306Met) c.1819C>A (p.Leu607Met) c.1924C>A (p.Leu642Met) | |
17 | g.44254540A>C | CA500285376 | SLC4A1 | c.2013T>G (p.Ala671=) c.915T>G (p.Ala305=) c.1818T>G (p.Ala606=) c.1923T>G (p.Ala641=) | |
17 | g.44254540A>G | CA500285377 | SLC4A1 | c.2013T>C (p.Ala671=) c.915T>C (p.Ala305=) c.1818T>C (p.Ala606=) c.1923T>C (p.Ala641=) | |
17 | g.44254540A>T | CA500285378 | SLC4A1 | c.2013T>A (p.Ala671=) c.915T>A (p.Ala305=) c.1818T>A (p.Ala606=) c.1923T>A (p.Ala641=) | gnomAD v4 |
17 | g.44254541G>A | CA399782675 | SLC4A1 | c.2012C>T (p.Ala671Val) c.914C>T (p.Ala305Val) c.1817C>T (p.Ala606Val) c.1922C>T (p.Ala641Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254541G>C | CA399782677 | SLC4A1 | c.2012C>G (p.Ala671Gly) c.914C>G (p.Ala305Gly) c.1817C>G (p.Ala606Gly) c.1922C>G (p.Ala641Gly) | |
17 | g.44254541G= | CA2261308262 | SLC4A1 | c.2012C= (p.Ala671=) c.914C= (p.Ala305=) c.1817C= (p.Ala606=) c.1922C= (p.Ala641=) | |
17 | g.44254541G>T | CA399782678 | SLC4A1 | c.2012C>A (p.Ala671Asp) c.914C>A (p.Ala305Asp) c.1817C>A (p.Ala606Asp) c.1922C>A (p.Ala641Asp) | |
17 | g.44254542C>A | CA399782681 | SLC4A1 | c.2011G>T (p.Ala671Ser) c.913G>T (p.Ala305Ser) c.1816G>T (p.Ala606Ser) c.1921G>T (p.Ala641Ser) | |
17 | g.44254542C>G | CA399782686 | SLC4A1 | c.2011G>C (p.Ala671Pro) c.913G>C (p.Ala305Pro) c.1816G>C (p.Ala606Pro) c.1921G>C (p.Ala641Pro) | ClinVar |
17 | g.44254542C>T | CA399782687 | SLC4A1 | c.2011G>A (p.Ala671Thr) c.913G>A (p.Ala305Thr) c.1816G>A (p.Ala606Thr) c.1921G>A (p.Ala641Thr) | gnomAD v4 |
17 | g.44254543A>C | CA500285379 | SLC4A1 | c.2010T>G (p.Pro670=) c.912T>G (p.Pro304=) c.1815T>G (p.Pro605=) c.1920T>G (p.Pro640=) | |
17 | g.44254543A>G | CA500285380 | SLC4A1 | c.2010T>C (p.Pro670=) c.912T>C (p.Pro304=) c.1815T>C (p.Pro605=) c.1920T>C (p.Pro640=) | |
17 | g.44254543A>T | CA500285381 | SLC4A1 | c.2010T>A (p.Pro670=) c.912T>A (p.Pro304=) c.1815T>A (p.Pro605=) c.1920T>A (p.Pro640=) | |
17 | g.44254544G>A | CA399782690 | SLC4A1 | c.2009C>T (p.Pro670Leu) c.911C>T (p.Pro304Leu) c.1814C>T (p.Pro605Leu) c.1919C>T (p.Pro640Leu) | gnomAD v4 |
17 | g.44254544G>C | CA399782688 | SLC4A1 | c.2009C>G (p.Pro670Arg) c.911C>G (p.Pro304Arg) c.1814C>G (p.Pro605Arg) c.1919C>G (p.Pro640Arg) | ClinVar |
17 | g.44254544G>T | CA399782689 | SLC4A1 | c.2009C>A (p.Pro670His) c.911C>A (p.Pro304His) c.1814C>A (p.Pro605His) c.1919C>A (p.Pro640His) | |
17 | g.44254545G>A | CA399782691 | SLC4A1 | c.2008C>T (p.Pro670Ser) c.910C>T (p.Pro304Ser) c.1813C>T (p.Pro605Ser) c.1918C>T (p.Pro640Ser) | |
17 | g.44254545G>C | CA290928466 | SLC4A1 | c.2008C>G (p.Pro670Ala) c.910C>G (p.Pro304Ala) c.1813C>G (p.Pro605Ala) c.1918C>G (p.Pro640Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254545G= | CA2261308263 | SLC4A1 | c.2008C= (p.Pro670=) c.910C= (p.Pro304=) c.1813C= (p.Pro605=) c.1918C= (p.Pro640=) | |
17 | g.44254545G>T | CA399782692 | SLC4A1 | c.2008C>A (p.Pro670Thr) c.910C>A (p.Pro304Thr) c.1813C>A (p.Pro605Thr) c.1918C>A (p.Pro640Thr) | |
17 | g.44254546C>A | CA500285384 | SLC4A1 | c.2007G>T (p.Leu669=) c.909G>T (p.Leu303=) c.1812G>T (p.Leu604=) c.1917G>T (p.Leu639=) | |
17 | g.44254546C>G | CA500285382 | SLC4A1 | c.2007G>C (p.Leu669=) c.909G>C (p.Leu303=) c.1812G>C (p.Leu604=) c.1917G>C (p.Leu639=) | |
17 | g.44254546C>T | CA500285383 | SLC4A1 | c.2007G>A (p.Leu669=) c.909G>A (p.Leu303=) c.1812G>A (p.Leu604=) c.1917G>A (p.Leu639=) | |
17 | g.44254547A>C | CA399782693 | SLC4A1 | c.2006T>G (p.Leu669Arg) c.908T>G (p.Leu303Arg) c.1811T>G (p.Leu604Arg) c.1916T>G (p.Leu639Arg) | |
17 | g.44254547A>G | CA399782695 | SLC4A1 | c.2006T>C (p.Leu669Pro) c.908T>C (p.Leu303Pro) c.1811T>C (p.Leu604Pro) c.1916T>C (p.Leu639Pro) | gnomAD v4 |
17 | g.44254547A>T | CA399782697 | SLC4A1 | c.2006T>A (p.Leu669Gln) c.908T>A (p.Leu303Gln) c.1811T>A (p.Leu604Gln) c.1916T>A (p.Leu639Gln) | |
17 | g.44254548G>A | CA500285385 | SLC4A1 | c.2005C>T (p.Leu669=) c.907C>T (p.Leu303=) c.1810C>T (p.Leu604=) c.1915C>T (p.Leu639=) | |
17 | g.44254548G>C | CA399782699 | SLC4A1 | c.2005C>G (p.Leu669Val) c.907C>G (p.Leu303Val) c.1810C>G (p.Leu604Val) c.1915C>G (p.Leu639Val) | |
17 | g.44254548G>T | CA399782701 | SLC4A1 | c.2005C>A (p.Leu669Met) c.907C>A (p.Leu303Met) c.1810C>A (p.Leu604Met) c.1915C>A (p.Leu639Met) | |
17 | g.44254549G>A | CA500285386 | SLC4A1 | c.2004C>T (p.Ala668=) c.906C>T (p.Ala302=) c.1809C>T (p.Ala603=) c.1914C>T (p.Ala638=) | |
17 | g.44254549G>C | CA500285387 | SLC4A1 | c.2004C>G (p.Ala668=) c.906C>G (p.Ala302=) c.1809C>G (p.Ala603=) c.1914C>G (p.Ala638=) | |
17 | g.44254549G>T | CA500285388 | SLC4A1 | c.2004C>A (p.Ala668=) c.906C>A (p.Ala302=) c.1809C>A (p.Ala603=) c.1914C>A (p.Ala638=) | |
17 | g.44254550G>A | CA399782702 | SLC4A1 | c.2003C>T (p.Ala668Val) c.905C>T (p.Ala302Val) c.1808C>T (p.Ala603Val) c.1913C>T (p.Ala638Val) | dbSNP gnomAD v4 |
17 | g.44254550G>C | CA399782705 | SLC4A1 | c.2003C>G (p.Ala668Gly) c.905C>G (p.Ala302Gly) c.1808C>G (p.Ala603Gly) c.1913C>G (p.Ala638Gly) | gnomAD v4 |
17 | g.44254550G= | CA2261308264 | SLC4A1 | c.2003C= (p.Ala668=) c.905C= (p.Ala302=) c.1808C= (p.Ala603=) c.1913C= (p.Ala638=) | |
17 | g.44254550G>T | CA399782708 | SLC4A1 | c.2003C>A (p.Ala668Asp) c.905C>A (p.Ala302Asp) c.1808C>A (p.Ala603Asp) c.1913C>A (p.Ala638Asp) | |
17 | g.44254551C>A | CA399782712 | SLC4A1 | c.2002G>T (p.Ala668Ser) c.904G>T (p.Ala302Ser) c.1807G>T (p.Ala603Ser) c.1912G>T (p.Ala638Ser) | ClinVar gnomAD v4 |
17 | g.44254551C= | CA2261308265 | SLC4A1 | c.2002G= (p.Ala668=) c.904G= (p.Ala302=) c.1807G= (p.Ala603=) c.1912G= (p.Ala638=) | |
17 | g.44254551C>G | CA399782727 | SLC4A1 | c.2002G>C (p.Ala668Pro) c.904G>C (p.Ala302Pro) c.1807G>C (p.Ala603Pro) c.1912G>C (p.Ala638Pro) | |
17 | g.44254551C>T | CA8600148 | SLC4A1 | c.2002G>A (p.Ala668Thr) c.904G>A (p.Ala302Thr) c.1807G>A (p.Ala603Thr) c.1912G>A (p.Ala638Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254552G>A | CA8600149 | SLC4A1 | c.2001C>T (p.Ser667=) c.903C>T (p.Ser301=) c.1806C>T (p.Ser602=) c.1911C>T (p.Ser637=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254552G>C | CA500285389 | SLC4A1 | c.2001C>G (p.Ser667=) c.903C>G (p.Ser301=) c.1806C>G (p.Ser602=) c.1911C>G (p.Ser637=) | |
17 | g.44254552G= | CA2261308266 | SLC4A1 | c.2001C= (p.Ser667=) c.903C= (p.Ser301=) c.1806C= (p.Ser602=) c.1911C= (p.Ser637=) | |
17 | g.44254552G>T | CA500285390 | SLC4A1 | c.2001C>A (p.Ser667=) c.903C>A (p.Ser301=) c.1806C>A (p.Ser602=) c.1911C>A (p.Ser637=) | gnomAD v4 |
17 | g.44254553G>A | CA399782731 | SLC4A1 | c.2000C>T (p.Ser667Phe) c.902C>T (p.Ser301Phe) c.1805C>T (p.Ser602Phe) c.1910C>T (p.Ser637Phe) | gnomAD v4 |
17 | g.44254553G>C | CA399782730 | SLC4A1 | c.2000C>G (p.Ser667Cys) c.902C>G (p.Ser301Cys) c.1805C>G (p.Ser602Cys) c.1910C>G (p.Ser637Cys) | |
17 | g.44254553G>T | CA399782732 | SLC4A1 | c.2000C>A (p.Ser667Tyr) c.902C>A (p.Ser301Tyr) c.1805C>A (p.Ser602Tyr) c.1910C>A (p.Ser637Tyr) | ClinVar |
17 | g.44254554A= | CA2261308267 | SLC4A1 | c.1999T= (p.Ser667=) c.901T= (p.Ser301=) c.1804T= (p.Ser602=) c.1909T= (p.Ser637=) | |
17 | g.44254554A>C | CA399782733 | SLC4A1 | c.1999T>G (p.Ser667Ala) c.901T>G (p.Ser301Ala) c.1804T>G (p.Ser602Ala) c.1909T>G (p.Ser637Ala) | |
17 | g.44254554A>G | CA399782734 | SLC4A1 | c.1999T>C (p.Ser667Pro) c.901T>C (p.Ser301Pro) c.1804T>C (p.Ser602Pro) c.1909T>C (p.Ser637Pro) | gnomAD v4 |
17 | g.44254554A>T | CA8600150 | SLC4A1 | c.1999T>A (p.Ser667Thr) c.901T>A (p.Ser301Thr) c.1804T>A (p.Ser602Thr) c.1909T>A (p.Ser637Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254555G>A | CA500285394 | SLC4A1 | c.1998C>T (p.Ala666=) c.900C>T (p.Ala300=) c.1803C>T (p.Ala601=) c.1908C>T (p.Ala636=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254555G>C | CA500285395 | SLC4A1 | c.1998C>G (p.Ala666=) c.900C>G (p.Ala300=) c.1803C>G (p.Ala601=) c.1908C>G (p.Ala636=) | |
17 | g.44254555G= | CA2261308268 | SLC4A1 | c.1998C= (p.Ala666=) c.900C= (p.Ala300=) c.1803C= (p.Ala601=) c.1908C= (p.Ala636=) | |
17 | g.44254555G>T | CA500285397 | SLC4A1 | c.1998C>A (p.Ala666=) c.900C>A (p.Ala300=) c.1803C>A (p.Ala601=) c.1908C>A (p.Ala636=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254556G>A | CA399782735 | SLC4A1 | c.1997C>T (p.Ala666Val) c.899C>T (p.Ala300Val) c.1802C>T (p.Ala601Val) c.1907C>T (p.Ala636Val) | |
17 | g.44254556G>C | CA399782736 | SLC4A1 | c.1997C>G (p.Ala666Gly) c.899C>G (p.Ala300Gly) c.1802C>G (p.Ala601Gly) c.1907C>G (p.Ala636Gly) | |
17 | g.44254556G>T | CA399782738 | SLC4A1 | c.1997C>A (p.Ala666Asp) c.899C>A (p.Ala300Asp) c.1802C>A (p.Ala601Asp) c.1907C>A (p.Ala636Asp) | |
17 | g.44254557C>A | CA399782743 | SLC4A1 | c.1996G>T (p.Ala666Ser) c.898G>T (p.Ala300Ser) c.1801G>T (p.Ala601Ser) c.1906G>T (p.Ala636Ser) | |
17 | g.44254557C>G | CA399782741 | SLC4A1 | c.1996G>C (p.Ala666Pro) c.898G>C (p.Ala300Pro) c.1801G>C (p.Ala601Pro) c.1906G>C (p.Ala636Pro) | |
17 | g.44254557C>T | CA399782742 | SLC4A1 | c.1996G>A (p.Ala666Thr) c.898G>A (p.Ala300Thr) c.1801G>A (p.Ala601Thr) c.1906G>A (p.Ala636Thr) | |
17 | g.44254558A>C | CA399782744 | SLC4A1 | c.1995T>G (p.Phe665Leu) c.897T>G (p.Phe299Leu) c.1800T>G (p.Phe600Leu) c.1905T>G (p.Phe635Leu) | |
17 | g.44254558A>G | CA500285500 | SLC4A1 | c.1995T>C (p.Phe665=) c.897T>C (p.Phe299=) c.1800T>C (p.Phe600=) c.1905T>C (p.Phe635=) | |
17 | g.44254558A>T | CA399782745 | SLC4A1 | c.1995T>A (p.Phe665Leu) c.897T>A (p.Phe299Leu) c.1800T>A (p.Phe600Leu) c.1905T>A (p.Phe635Leu) | |
17 | g.44254558_44254561delinsAAAC | CA2261308269 | SLC4A1 | c.1992_1995delinsGTTT (p.Met664=) c.894_897delinsGTTT (p.Met298=) c.1797_1800delinsGTTT (p.Met599=) c.1902_1905delinsGTTT (p.Met634=) | |
17 | g.44254559A>C | CA399782746 | SLC4A1 | c.1994T>G (p.Phe665Cys) c.896T>G (p.Phe299Cys) c.1799T>G (p.Phe600Cys) c.1904T>G (p.Phe635Cys) | |
17 | g.44254559A>G | CA399782747 | SLC4A1 | c.1994T>C (p.Phe665Ser) c.896T>C (p.Phe299Ser) c.1799T>C (p.Phe600Ser) c.1904T>C (p.Phe635Ser) | |
17 | g.44254559A>T | CA399782748 | SLC4A1 | c.1994T>A (p.Phe665Tyr) c.896T>A (p.Phe299Tyr) c.1799T>A (p.Phe600Tyr) c.1904T>A (p.Phe635Tyr) | |
17 | g.44254560_44254562del | CA2261308270 | SLC4A1 | c.1992_1994del (p.Met664_Phe665delinsIle) c.894_896del (p.Met298_Phe299delinsIle) c.1797_1799del (p.Met599_Phe600delinsIle) c.1902_1904del (p.Met634_Phe635delinsIle) | dbSNP |
17 | g.44254560A= | CA2261308271 | SLC4A1 | c.1993T= (p.Phe665=) c.895T= (p.Phe299=) c.1798T= (p.Phe600=) c.1903T= (p.Phe635=) | |
17 | g.44254560A>C | CA399782752 | SLC4A1 | c.1993T>G (p.Phe665Val) c.895T>G (p.Phe299Val) c.1798T>G (p.Phe600Val) c.1903T>G (p.Phe635Val) | |
17 | g.44254560A>G | CA399782749 | SLC4A1 | c.1993T>C (p.Phe665Leu) c.895T>C (p.Phe299Leu) c.1798T>C (p.Phe600Leu) c.1903T>C (p.Phe635Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254560A>T | CA399782751 | SLC4A1 | c.1993T>A (p.Phe665Ile) c.895T>A (p.Phe299Ile) c.1798T>A (p.Phe600Ile) c.1903T>A (p.Phe635Ile) | |
17 | g.44254561C>A | CA399782755 | SLC4A1 | c.1992G>T (p.Met664Ile) c.894G>T (p.Met298Ile) c.1797G>T (p.Met599Ile) c.1902G>T (p.Met634Ile) | |
17 | g.44254561C>G | CA399782759 | SLC4A1 | c.1992G>C (p.Met664Ile) c.894G>C (p.Met298Ile) c.1797G>C (p.Met599Ile) c.1902G>C (p.Met634Ile) | |
17 | g.44254561C>T | CA399782761 | SLC4A1 | c.1992G>A (p.Met664Ile) c.894G>A (p.Met298Ile) c.1797G>A (p.Met599Ile) c.1902G>A (p.Met634Ile) | |
17 | g.44254565_44254567del | CA2580613150 | SLC4A1 | c.1990_1992del (p.Met664del) c.892_894del (p.Met298del) c.1795_1797del (p.Met599del) c.1900_1902del (p.Met634del) | ClinVar gnomAD v4 |
17 | g.44254562A>C | CA399782764 | SLC4A1 | c.1991T>G (p.Met664Arg) c.893T>G (p.Met298Arg) c.1796T>G (p.Met599Arg) c.1901T>G (p.Met634Arg) | |
17 | g.44254562A>G | CA399782765 | SLC4A1 | c.1991T>C (p.Met664Thr) c.893T>C (p.Met298Thr) c.1796T>C (p.Met599Thr) c.1901T>C (p.Met634Thr) | |
17 | g.44254562A>T | CA399782766 | SLC4A1 | c.1991T>A (p.Met664Lys) c.893T>A (p.Met298Lys) c.1796T>A (p.Met599Lys) c.1901T>A (p.Met634Lys) | |
17 | g.44254563T>A | CA399782767 | SLC4A1 | c.1990A>T (p.Met664Leu) c.892A>T (p.Met298Leu) c.1795A>T (p.Met599Leu) c.1900A>T (p.Met634Leu) | |
17 | g.44254563T>C | CA399782771 | SLC4A1 | c.1990A>G (p.Met664Val) c.892A>G (p.Met298Val) c.1795A>G (p.Met599Val) c.1900A>G (p.Met634Val) | |
17 | g.44254563T>G | CA399782773 | SLC4A1 | c.1990A>C (p.Met664Leu) c.892A>C (p.Met298Leu) c.1795A>C (p.Met599Leu) c.1900A>C (p.Met634Leu) | |
17 | g.44254564del | CA2695226322 | SLC4A1 | c.1989del (p.Met663IlefsTer25) c.891del (p.Met297IlefsTer25) c.1794del (p.Met598IlefsTer25) c.1899del (p.Met633IlefsTer25) c.1989del (p.Met663IlefsTer?) | |
17 | g.44254564C>A | CA399782782 | SLC4A1 | c.1989G>T (p.Met663Ile) c.891G>T (p.Met297Ile) c.1794G>T (p.Met598Ile) c.1899G>T (p.Met633Ile) | |
17 | g.44254564C>G | CA399782783 | SLC4A1 | c.1989G>C (p.Met663Ile) c.891G>C (p.Met297Ile) c.1794G>C (p.Met598Ile) c.1899G>C (p.Met633Ile) | |
17 | g.44254564C>T | CA399782784 | SLC4A1 | c.1989G>A (p.Met663Ile) c.891G>A (p.Met297Ile) c.1794G>A (p.Met598Ile) c.1899G>A (p.Met633Ile) | |
17 | g.44254565A>C | CA399782785 | SLC4A1 | c.1988T>G (p.Met663Arg) c.890T>G (p.Met297Arg) c.1793T>G (p.Met598Arg) c.1898T>G (p.Met633Arg) | |
17 | g.44254565A>G | CA399782787 | SLC4A1 | c.1988T>C (p.Met663Thr) c.890T>C (p.Met297Thr) c.1793T>C (p.Met598Thr) c.1898T>C (p.Met633Thr) | |
17 | g.44254565A>T | CA399782786 | SLC4A1 | c.1988T>A (p.Met663Lys) c.890T>A (p.Met297Lys) c.1793T>A (p.Met598Lys) c.1898T>A (p.Met633Lys) | |
17 | g.44254566T>A | CA399782790 | SLC4A1 | c.1987A>T (p.Met663Leu) c.889A>T (p.Met297Leu) c.1792A>T (p.Met598Leu) c.1897A>T (p.Met633Leu) | |
17 | g.44254566T>C | CA399782792 | SLC4A1 | c.1987A>G (p.Met663Val) c.889A>G (p.Met297Val) c.1792A>G (p.Met598Val) c.1897A>G (p.Met633Val) | |
17 | g.44254566T>G | CA399782795 | SLC4A1 | c.1987A>C (p.Met663Leu) c.889A>C (p.Met297Leu) c.1792A>C (p.Met598Leu) c.1897A>C (p.Met633Leu) | |
17 | g.44254567C>A | CA399782796 | SLC4A1 | c.1986G>T (p.Trp662Cys) c.888G>T (p.Trp296Cys) c.1791G>T (p.Trp597Cys) c.1896G>T (p.Trp632Cys) | ClinVar |
17 | g.44254567C>G | CA399782797 | SLC4A1 | c.1986G>C (p.Trp662Cys) c.888G>C (p.Trp296Cys) c.1791G>C (p.Trp597Cys) c.1896G>C (p.Trp632Cys) | |
17 | g.44254567C>T | CA399782798 | SLC4A1 | c.1986G>A (p.Trp662Ter) c.888G>A (p.Trp296Ter) c.1791G>A (p.Trp597Ter) c.1896G>A (p.Trp632Ter) | COSMIC |
17 | g.44254568C>A | CA399782800 | SLC4A1 | c.1985G>T (p.Trp662Leu) c.887G>T (p.Trp296Leu) c.1790G>T (p.Trp597Leu) c.1895G>T (p.Trp632Leu) | |
17 | g.44254568C>G | CA399782803 | SLC4A1 | c.1985G>C (p.Trp662Ser) c.887G>C (p.Trp296Ser) c.1790G>C (p.Trp597Ser) c.1895G>C (p.Trp632Ser) | |
17 | g.44254568C>T | CA399782807 | SLC4A1 | c.1985G>A (p.Trp662Ter) c.887G>A (p.Trp296Ter) c.1790G>A (p.Trp597Ter) c.1895G>A (p.Trp632Ter) | |
17 | g.44254569A>C | CA399782811 | SLC4A1 | c.1984T>G (p.Trp662Gly) c.886T>G (p.Trp296Gly) c.1789T>G (p.Trp597Gly) c.1894T>G (p.Trp632Gly) | |
17 | g.44254569A>G | CA399782816 | SLC4A1 | c.1984T>C (p.Trp662Arg) c.886T>C (p.Trp296Arg) c.1789T>C (p.Trp597Arg) c.1894T>C (p.Trp632Arg) | |
17 | g.44254569A>T | CA399782818 | SLC4A1 | c.1984T>A (p.Trp662Arg) c.886T>A (p.Trp296Arg) c.1789T>A (p.Trp597Arg) c.1894T>A (p.Trp632Arg) | |
17 | g.44254570G>A | CA500285541 | SLC4A1 | c.1983C>T (p.Ile661=) c.885C>T (p.Ile295=) c.1788C>T (p.Ile596=) c.1893C>T (p.Ile631=) | |
17 | g.44254570G>C | CA399782828 | SLC4A1 | c.1983C>G (p.Ile661Met) c.885C>G (p.Ile295Met) c.1788C>G (p.Ile596Met) c.1893C>G (p.Ile631Met) | |
17 | g.44254570G= | CA2261308272 | SLC4A1 | c.1983C= (p.Ile661=) c.885C= (p.Ile295=) c.1788C= (p.Ile596=) c.1893C= (p.Ile631=) | |
17 | g.44254570G>T | CA8600151 | SLC4A1 | c.1983C>A (p.Ile661=) c.885C>A (p.Ile295=) c.1788C>A (p.Ile596=) c.1893C>A (p.Ile631=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254571A= | CA2261308273 | SLC4A1 | c.1982T= (p.Ile661=) c.884T= (p.Ile295=) c.1787T= (p.Ile596=) c.1892T= (p.Ile631=) | |
17 | g.44254571A>C | CA399782831 | SLC4A1 | c.1982T>G (p.Ile661Ser) c.884T>G (p.Ile295Ser) c.1787T>G (p.Ile596Ser) c.1892T>G (p.Ile631Ser) | |
17 | g.44254571A>G | CA8600152 | SLC4A1 | c.1982T>C (p.Ile661Thr) c.884T>C (p.Ile295Thr) c.1787T>C (p.Ile596Thr) c.1892T>C (p.Ile631Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44254571A>T | CA399782837 | SLC4A1 | c.1982T>A (p.Ile661Asn) c.884T>A (p.Ile295Asn) c.1787T>A (p.Ile596Asn) c.1892T>A (p.Ile631Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254572T>A | CA399782838 | SLC4A1 | c.1981A>T (p.Ile661Phe) c.883A>T (p.Ile295Phe) c.1786A>T (p.Ile596Phe) c.1891A>T (p.Ile631Phe) | |
17 | g.44254572T>C | CA399782840 | SLC4A1 | c.1981A>G (p.Ile661Val) c.883A>G (p.Ile295Val) c.1786A>G (p.Ile596Val) c.1891A>G (p.Ile631Val) | |
17 | g.44254572T>G | CA399782843 | SLC4A1 | c.1981A>C (p.Ile661Leu) c.883A>C (p.Ile295Leu) c.1786A>C (p.Ile596Leu) c.1891A>C (p.Ile631Leu) | |
17 | g.44254573G>A | CA8600153 | SLC4A1 | c.1980C>T (p.Pro660=) c.882C>T (p.Pro294=) c.1785C>T (p.Pro595=) c.1890C>T (p.Pro630=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254573G>C | CA500285553 | SLC4A1 | c.1980C>G (p.Pro660=) c.882C>G (p.Pro294=) c.1785C>G (p.Pro595=) c.1890C>G (p.Pro630=) | |
17 | g.44254573G= | CA2261308274 | SLC4A1 | c.1980C= (p.Pro660=) c.882C= (p.Pro294=) c.1785C= (p.Pro595=) c.1890C= (p.Pro630=) | |
17 | g.44254573G>T | CA500285559 | SLC4A1 | c.1980C>A (p.Pro660=) c.882C>A (p.Pro294=) c.1785C>A (p.Pro595=) c.1890C>A (p.Pro630=) | |
17 | g.44254574G>A | CA399782852 | SLC4A1 | c.1979C>T (p.Pro660Leu) c.881C>T (p.Pro294Leu) c.1784C>T (p.Pro595Leu) c.1889C>T (p.Pro630Leu) | |
17 | g.44254574G>C | CA399782857 | SLC4A1 | c.1979C>G (p.Pro660Arg) c.881C>G (p.Pro294Arg) c.1784C>G (p.Pro595Arg) c.1889C>G (p.Pro630Arg) | |
17 | g.44254574G>T | CA399782872 | SLC4A1 | c.1979C>A (p.Pro660His) c.881C>A (p.Pro294His) c.1784C>A (p.Pro595His) c.1889C>A (p.Pro630His) | |
17 | g.44254578_44254585del | CA2697559955 | SLC4A1 | c.1972_1979del (p.Glu658HisfsTer?) c.874_881del (p.Glu292HisfsTer?) c.1777_1784del (p.Glu593HisfsTer?) c.1882_1889del (p.Glu628HisfsTer?) | ClinVar |
17 | g.44254575G>A | CA399782880 | SLC4A1 | c.1978C>T (p.Pro660Ser) c.880C>T (p.Pro294Ser) c.1783C>T (p.Pro595Ser) c.1888C>T (p.Pro630Ser) | |
17 | g.44254575G>C | CA399782881 | SLC4A1 | c.1978C>G (p.Pro660Ala) c.880C>G (p.Pro294Ala) c.1783C>G (p.Pro595Ala) c.1888C>G (p.Pro630Ala) | |
17 | g.44254575G>T | CA399782883 | SLC4A1 | c.1978C>A (p.Pro660Thr) c.880C>A (p.Pro294Thr) c.1783C>A (p.Pro595Thr) c.1888C>A (p.Pro630Thr) | |
17 | g.44254576A>C | CA399782885 | SLC4A1 | c.1977T>G (p.Phe659Leu) c.879T>G (p.Phe293Leu) c.1782T>G (p.Phe594Leu) c.1887T>G (p.Phe629Leu) | |
17 | g.44254576A>G | CA500285564 | SLC4A1 | c.1977T>C (p.Phe659=) c.879T>C (p.Phe293=) c.1782T>C (p.Phe594=) c.1887T>C (p.Phe629=) | gnomAD v4 |
17 | g.44254576A>T | CA399782887 | SLC4A1 | c.1977T>A (p.Phe659Leu) c.879T>A (p.Phe293Leu) c.1782T>A (p.Phe594Leu) c.1887T>A (p.Phe629Leu) | |
17 | g.44254577A>C | CA399782891 | SLC4A1 | c.1976T>G (p.Phe659Cys) c.878T>G (p.Phe293Cys) c.1781T>G (p.Phe594Cys) c.1886T>G (p.Phe629Cys) | |
17 | g.44254577A>G | CA399782897 | SLC4A1 | c.1976T>C (p.Phe659Ser) c.878T>C (p.Phe293Ser) c.1781T>C (p.Phe594Ser) c.1886T>C (p.Phe629Ser) | |
17 | g.44254577A>T | CA399782894 | SLC4A1 | c.1976T>A (p.Phe659Tyr) c.878T>A (p.Phe293Tyr) c.1781T>A (p.Phe594Tyr) c.1886T>A (p.Phe629Tyr) | |
17 | g.44254580_44254586del | CA2739267570 | SLC4A1 | c.1970_1976del (p.Ser657PhefsTer5) c.872_878del (p.Ser291PhefsTer5) c.1775_1781del (p.Ser592PhefsTer5) c.1880_1886del (p.Ser627PhefsTer5) | ClinVar |
17 | g.44254578A>C | CA399782902 | SLC4A1 | c.1975T>G (p.Phe659Val) c.877T>G (p.Phe293Val) c.1780T>G (p.Phe594Val) c.1885T>G (p.Phe629Val) | |
17 | g.44254578A>G | CA399782907 | SLC4A1 | c.1975T>C (p.Phe659Leu) c.877T>C (p.Phe293Leu) c.1780T>C (p.Phe594Leu) c.1885T>C (p.Phe629Leu) | |
17 | g.44254578A>T | CA399782910 | SLC4A1 | c.1975T>A (p.Phe659Ile) c.877T>A (p.Phe293Ile) c.1780T>A (p.Phe594Ile) c.1885T>A (p.Phe629Ile) | |
17 | g.44254579C>A | CA399782914 | SLC4A1 | c.1974G>T (p.Glu658Asp) c.876G>T (p.Glu292Asp) c.1779G>T (p.Glu593Asp) c.1884G>T (p.Glu628Asp) | |
17 | g.44254579C= | CA2261308275 | SLC4A1 | c.1974G= (p.Glu658=) c.876G= (p.Glu292=) c.1779G= (p.Glu593=) c.1884G= (p.Glu628=) | |
17 | g.44254579C>G | CA399782916 | SLC4A1 | c.1974G>C (p.Glu658Asp) c.876G>C (p.Glu292Asp) c.1779G>C (p.Glu593Asp) c.1884G>C (p.Glu628Asp) | |
17 | g.44254579C>T | CA8600154 | SLC4A1 | c.1974G>A (p.Glu658=) c.876G>A (p.Glu292=) c.1779G>A (p.Glu593=) c.1884G>A (p.Glu628=) | dbSNP ExAC gnomAD v4 |
17 | g.44254580T>A | CA399782929 | SLC4A1 | c.1973A>T (p.Glu658Val) c.875A>T (p.Glu292Val) c.1778A>T (p.Glu593Val) c.1883A>T (p.Glu628Val) | |
17 | g.44254580T>C | CA399782933 | SLC4A1 | c.1973A>G (p.Glu658Gly) c.875A>G (p.Glu292Gly) c.1778A>G (p.Glu593Gly) c.1883A>G (p.Glu628Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254580T>G | CA399782935 | SLC4A1 | c.1973A>C (p.Glu658Ala) c.875A>C (p.Glu292Ala) c.1778A>C (p.Glu593Ala) c.1883A>C (p.Glu628Ala) | |
17 | g.44254580T= | CA2261308276 | SLC4A1 | c.1973A= (p.Glu658=) c.875A= (p.Glu292=) c.1778A= (p.Glu593=) c.1883A= (p.Glu628=) | |
17 | g.44254581C>A | CA399782942 | SLC4A1 | c.1972G>T (p.Glu658Ter) c.874G>T (p.Glu292Ter) c.1777G>T (p.Glu593Ter) c.1882G>T (p.Glu628Ter) | |
17 | g.44254581C= | CA2261308277 | SLC4A1 | c.1972G= (p.Glu658=) c.874G= (p.Glu292=) c.1777G= (p.Glu593=) c.1882G= (p.Glu628=) | |
17 | g.44254581C>G | CA8600155 | SLC4A1 | c.1972G>C (p.Glu658Gln) c.874G>C (p.Glu292Gln) c.1777G>C (p.Glu593Gln) c.1882G>C (p.Glu628Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44254581C>T | CA127380 | SLC4A1 | c.1972G>A (p.Glu658Lys) c.874G>A (p.Glu292Lys) c.1777G>A (p.Glu593Lys) c.1882G>A (p.Glu628Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44254582G>A | CA8600156 | SLC4A1 | c.1971C>T (p.Ser657=) c.873C>T (p.Ser291=) c.1776C>T (p.Ser592=) c.1881C>T (p.Ser627=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254582G>C | CA500285582 | SLC4A1 | c.1971C>G (p.Ser657=) c.873C>G (p.Ser291=) c.1776C>G (p.Ser592=) c.1881C>G (p.Ser627=) | dbSNP gnomAD v2 |
17 | g.44254582G= | CA2261308278 | SLC4A1 | c.1971C= (p.Ser657=) c.873C= (p.Ser291=) c.1776C= (p.Ser592=) c.1881C= (p.Ser627=) | |
17 | g.44254582G>T | CA500285583 | SLC4A1 | c.1971C>A (p.Ser657=) c.873C>A (p.Ser291=) c.1776C>A (p.Ser592=) c.1881C>A (p.Ser627=) | |
17 | g.44254583G>A | CA399782964 | SLC4A1 | c.1970C>T (p.Ser657Phe) c.872C>T (p.Ser291Phe) c.1775C>T (p.Ser592Phe) c.1880C>T (p.Ser627Phe) | |
17 | g.44254583G>C | CA399782968 | SLC4A1 | c.1970C>G (p.Ser657Cys) c.872C>G (p.Ser291Cys) c.1775C>G (p.Ser592Cys) c.1880C>G (p.Ser627Cys) | |
17 | g.44254583G>T | CA399782972 | SLC4A1 | c.1970C>A (p.Ser657Tyr) c.872C>A (p.Ser291Tyr) c.1775C>A (p.Ser592Tyr) c.1880C>A (p.Ser627Tyr) | |
17 | g.44254584A= | CA2261308279 | SLC4A1 | c.1969T= (p.Ser657=) c.871T= (p.Ser291=) c.1774T= (p.Ser592=) c.1879T= (p.Ser627=) | |
17 | g.44254584A>C | CA399782973 | SLC4A1 | c.1969T>G (p.Ser657Ala) c.871T>G (p.Ser291Ala) c.1774T>G (p.Ser592Ala) c.1879T>G (p.Ser627Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254584A>G | CA399782974 | SLC4A1 | c.1969T>C (p.Ser657Pro) c.871T>C (p.Ser291Pro) c.1774T>C (p.Ser592Pro) c.1879T>C (p.Ser627Pro) | |
17 | g.44254584A>T | CA399782977 | SLC4A1 | c.1969T>A (p.Ser657Thr) c.871T>A (p.Ser291Thr) c.1774T>A (p.Ser592Thr) c.1879T>A (p.Ser627Thr) | ClinVar |
17 | g.44254585A>C | CA500285592 | SLC4A1 | c.1968T>G (p.Arg656=) c.870T>G (p.Arg290=) c.1773T>G (p.Arg591=) c.1878T>G (p.Arg626=) | |
17 | g.44254585A>G | CA500285596 | SLC4A1 | c.1968T>C (p.Arg656=) c.870T>C (p.Arg290=) c.1773T>C (p.Arg591=) c.1878T>C (p.Arg626=) | |
17 | g.44254585A>T | CA500285598 | SLC4A1 | c.1968T>A (p.Arg656=) c.870T>A (p.Arg290=) c.1773T>A (p.Arg591=) c.1878T>A (p.Arg626=) | |
17 | g.44254586C>A | CA399782980 | SLC4A1 | c.1967G>T (p.Arg656Leu) c.869G>T (p.Arg290Leu) c.1772G>T (p.Arg591Leu) c.1877G>T (p.Arg626Leu) | |
17 | g.44254586C= | CA2261308280 | SLC4A1 | c.1967G= (p.Arg656=) c.869G= (p.Arg290=) c.1772G= (p.Arg591=) c.1877G= (p.Arg626=) | |
17 | g.44254586C>G | CA399782983 | SLC4A1 | c.1967G>C (p.Arg656Pro) c.869G>C (p.Arg290Pro) c.1772G>C (p.Arg591Pro) c.1877G>C (p.Arg626Pro) | ClinVar |
17 | g.44254586C>T | CA8600157 | SLC4A1 | c.1967G>A (p.Arg656His) c.869G>A (p.Arg290His) c.1772G>A (p.Arg591His) c.1877G>A (p.Arg626His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254587G>A | CA8600158 | SLC4A1 | c.1966C>T (p.Arg656Cys) c.868C>T (p.Arg290Cys) c.1771C>T (p.Arg591Cys) c.1876C>T (p.Arg626Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254587G>C | CA399783010 | SLC4A1 | c.1966C>G (p.Arg656Gly) c.868C>G (p.Arg290Gly) c.1771C>G (p.Arg591Gly) c.1876C>G (p.Arg626Gly) | |
17 | g.44254587G= | CA2261308281 | SLC4A1 | c.1966C= (p.Arg656=) c.868C= (p.Arg290=) c.1771C= (p.Arg591=) c.1876C= (p.Arg626=) | |
17 | g.44254587G>T | CA399783020 | SLC4A1 | c.1966C>A (p.Arg656Ser) c.868C>A (p.Arg290Ser) c.1771C>A (p.Arg591Ser) c.1876C>A (p.Arg626Ser) | gnomAD v4 |
17 | g.44254588C>A | CA399783028 | SLC4A1 | c.1965G>T (p.Leu655Phe) c.867G>T (p.Leu289Phe) c.1770G>T (p.Leu590Phe) c.1875G>T (p.Leu625Phe) | |
17 | g.44254588C>G | CA399783026 | SLC4A1 | c.1965G>C (p.Leu655Phe) c.867G>C (p.Leu289Phe) c.1770G>C (p.Leu590Phe) c.1875G>C (p.Leu625Phe) | |
17 | g.44254588C>T | CA500285609 | SLC4A1 | c.1965G>A (p.Leu655=) c.867G>A (p.Leu289=) c.1770G>A (p.Leu590=) c.1875G>A (p.Leu625=) | |
17 | g.44254589A>C | CA399783032 | SLC4A1 | c.1964T>G (p.Leu655Trp) c.866T>G (p.Leu289Trp) c.1769T>G (p.Leu590Trp) c.1874T>G (p.Leu625Trp) | |
17 | g.44254589A>G | CA399783044 | SLC4A1 | c.1964T>C (p.Leu655Ser) c.866T>C (p.Leu289Ser) c.1769T>C (p.Leu590Ser) c.1874T>C (p.Leu625Ser) | |
17 | g.44254589A>T | CA399783048 | SLC4A1 | c.1964T>A (p.Leu655Ter) c.866T>A (p.Leu289Ter) c.1769T>A (p.Leu590Ter) c.1874T>A (p.Leu625Ter) | |
17 | g.44254590A>C | CA399783050 | SLC4A1 | c.1963T>G (p.Leu655Val) c.865T>G (p.Leu289Val) c.1768T>G (p.Leu590Val) c.1873T>G (p.Leu625Val) | |
17 | g.44254590A>G | CA500285617 | SLC4A1 | c.1963T>C (p.Leu655=) c.865T>C (p.Leu289=) c.1768T>C (p.Leu590=) c.1873T>C (p.Leu625=) | |
17 | g.44254590A>T | CA399783051 | SLC4A1 | c.1963T>A (p.Leu655Met) c.865T>A (p.Leu289Met) c.1768T>A (p.Leu590Met) c.1873T>A (p.Leu625Met) | |
17 | g.44254591G>A | CA500285619 | SLC4A1 | c.1962C>T (p.Gly654=) c.864C>T (p.Gly288=) c.1767C>T (p.Gly589=) c.1872C>T (p.Gly624=) | gnomAD v4 |
17 | g.44254591G>C | CA500285620 | SLC4A1 | c.1962C>G (p.Gly654=) c.864C>G (p.Gly288=) c.1767C>G (p.Gly589=) c.1872C>G (p.Gly624=) | |
17 | g.44254591G>T | CA500285622 | SLC4A1 | c.1962C>A (p.Gly654=) c.864C>A (p.Gly288=) c.1767C>A (p.Gly589=) c.1872C>A (p.Gly624=) | |
17 | g.44254592C>A | CA399783061 | SLC4A1 | c.1961G>T (p.Gly654Val) c.863G>T (p.Gly288Val) c.1766G>T (p.Gly589Val) c.1871G>T (p.Gly624Val) | |
17 | g.44254592C>G | CA399783064 | SLC4A1 | c.1961G>C (p.Gly654Ala) c.863G>C (p.Gly288Ala) c.1766G>C (p.Gly589Ala) c.1871G>C (p.Gly624Ala) | |
17 | g.44254592C>T | CA399783073 | SLC4A1 | c.1961G>A (p.Gly654Asp) c.863G>A (p.Gly288Asp) c.1766G>A (p.Gly589Asp) c.1871G>A (p.Gly624Asp) | gnomAD v4 |
17 | g.44254593C>A | CA399783076 | SLC4A1 | c.1960G>T (p.Gly654Cys) c.862G>T (p.Gly288Cys) c.1765G>T (p.Gly589Cys) c.1870G>T (p.Gly624Cys) | |
17 | g.44254593C>G | CA399783078 | SLC4A1 | c.1960G>C (p.Gly654Arg) c.862G>C (p.Gly288Arg) c.1765G>C (p.Gly589Arg) c.1870G>C (p.Gly624Arg) | |
17 | g.44254593C>T | CA399783082 | SLC4A1 | c.1960G>A (p.Gly654Ser) c.862G>A (p.Gly288Ser) c.1765G>A (p.Gly589Ser) c.1870G>A (p.Gly624Ser) | gnomAD v4 |
17 | g.44254594C>A | CA8600159 | SLC4A1 | c.1959G>T (p.Leu653=) c.861G>T (p.Leu287=) c.1764G>T (p.Leu588=) c.1869G>T (p.Leu623=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44254594C= | CA2261308282 | SLC4A1 | c.1959G= (p.Leu653=) c.861G= (p.Leu287=) c.1764G= (p.Leu588=) c.1869G= (p.Leu623=) | |
17 | g.44254594C>G | CA500285636 | SLC4A1 | c.1959G>C (p.Leu653=) c.861G>C (p.Leu287=) c.1764G>C (p.Leu588=) c.1869G>C (p.Leu623=) | |
17 | g.44254594C>T | CA500285633 | SLC4A1 | c.1959G>A (p.Leu653=) c.861G>A (p.Leu287=) c.1764G>A (p.Leu588=) c.1869G>A (p.Leu623=) | COSMIC |
17 | g.44254595A>C | CA399783088 | SLC4A1 | c.1958T>G (p.Leu653Arg) c.860T>G (p.Leu287Arg) c.1763T>G (p.Leu588Arg) c.1868T>G (p.Leu623Arg) | gnomAD v4 |
17 | g.44254595A>G | CA399783089 | SLC4A1 | c.1958T>C (p.Leu653Pro) c.860T>C (p.Leu287Pro) c.1763T>C (p.Leu588Pro) c.1868T>C (p.Leu623Pro) | |
17 | g.44254595A>T | CA399783086 | SLC4A1 | c.1958T>A (p.Leu653Gln) c.860T>A (p.Leu287Gln) c.1763T>A (p.Leu588Gln) c.1868T>A (p.Leu623Gln) | |
17 | g.44254596del | CA2580093861 | SLC4A1 | c.1957del (p.Leu653TrpfsTer11) c.859del (p.Leu287TrpfsTer11) c.1762del (p.Leu588TrpfsTer11) c.1867del (p.Leu623TrpfsTer11) | ClinVar |
17 | g.44254596G>A | CA500285642 | SLC4A1 | c.1957C>T (p.Leu653=) c.859C>T (p.Leu287=) c.1762C>T (p.Leu588=) c.1867C>T (p.Leu623=) | |
17 | g.44254596G>C | CA399783092 | SLC4A1 | c.1957C>G (p.Leu653Val) c.859C>G (p.Leu287Val) c.1762C>G (p.Leu588Val) c.1867C>G (p.Leu623Val) | |
17 | g.44254596G>T | CA399783095 | SLC4A1 | c.1957C>A (p.Leu653Met) c.859C>A (p.Leu287Met) c.1762C>A (p.Leu588Met) c.1867C>A (p.Leu623Met) | |
17 | g.44254597T>A | CA500285646 | SLC4A1 | c.1956A>T (p.Pro652=) c.858A>T (p.Pro286=) c.1761A>T (p.Pro587=) c.1866A>T (p.Pro622=) | |
17 | g.44254597T>C | CA500285648 | SLC4A1 | c.1956A>G (p.Pro652=) c.858A>G (p.Pro286=) c.1761A>G (p.Pro587=) c.1866A>G (p.Pro622=) | |
17 | g.44254597T>G | CA500285650 | SLC4A1 | c.1956A>C (p.Pro652=) c.858A>C (p.Pro286=) c.1761A>C (p.Pro587=) c.1866A>C (p.Pro622=) | gnomAD v4 |
17 | g.44254597_44254598delinsTG | CA2261308283 | SLC4A1 | c.1955_1956delinsCA (p.Pro652=) c.857_858delinsCA (p.Pro286=) c.1760_1761delinsCA (p.Pro587=) c.1865_1866delinsCA (p.Pro622=) | |
17 | g.44254598G>A | CA399783098 | SLC4A1 | c.1955C>T (p.Pro652Leu) c.857C>T (p.Pro286Leu) c.1760C>T (p.Pro587Leu) c.1865C>T (p.Pro622Leu) | |
17 | g.44254598G>C | CA399783102 | SLC4A1 | c.1955C>G (p.Pro652Arg) c.857C>G (p.Pro286Arg) c.1760C>G (p.Pro587Arg) c.1865C>G (p.Pro622Arg) | |
17 | g.44254598G>T | CA399783106 | SLC4A1 | c.1955C>A (p.Pro652Gln) c.857C>A (p.Pro286Gln) c.1760C>A (p.Pro587Gln) c.1865C>A (p.Pro622Gln) | |
17 | g.44254600del | CA626124751 | SLC4A1 | c.1955del (p.Pro652HisfsTer12) c.857del (p.Pro286HisfsTer12) c.1760del (p.Pro587HisfsTer12) c.1865del (p.Pro622HisfsTer12) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254599G>A | CA399783118 | SLC4A1 | c.1954C>T (p.Pro652Ser) c.856C>T (p.Pro286Ser) c.1759C>T (p.Pro587Ser) c.1864C>T (p.Pro622Ser) | ClinVar |
17 | g.44254599G>C | CA399783114 | SLC4A1 | c.1954C>G (p.Pro652Ala) c.856C>G (p.Pro286Ala) c.1759C>G (p.Pro587Ala) c.1864C>G (p.Pro622Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254599G= | CA2261308284 | SLC4A1 | c.1954C= (p.Pro652=) c.856C= (p.Pro286=) c.1759C= (p.Pro587=) c.1864C= (p.Pro622=) | |
17 | g.44254599G>T | CA399783115 | SLC4A1 | c.1954C>A (p.Pro652Thr) c.856C>A (p.Pro286Thr) c.1759C>A (p.Pro587Thr) c.1864C>A (p.Pro622Thr) | |
17 | g.44254600G>A | CA8600160 | SLC4A1 | c.1953C>T (p.His651=) c.855C>T (p.His285=) c.1758C>T (p.His586=) c.1863C>T (p.His621=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254600G>C | CA399783132 | SLC4A1 | c.1953C>G (p.His651Gln) c.855C>G (p.His285Gln) c.1758C>G (p.His586Gln) c.1863C>G (p.His621Gln) | |
17 | g.44254600G= | CA2261308285 | SLC4A1 | c.1953C= (p.His651=) c.855C= (p.His285=) c.1758C= (p.His586=) c.1863C= (p.His621=) | |
17 | g.44254600G>T | CA399783136 | SLC4A1 | c.1953C>A (p.His651Gln) c.855C>A (p.His285Gln) c.1758C>A (p.His586Gln) c.1863C>A (p.His621Gln) | |
17 | g.44254601T>A | CA399783141 | SLC4A1 | c.1952A>T (p.His651Leu) c.854A>T (p.His285Leu) c.1757A>T (p.His586Leu) c.1862A>T (p.His621Leu) | |
17 | g.44254601T>C | CA399783149 | SLC4A1 | c.1952A>G (p.His651Arg) c.854A>G (p.His285Arg) c.1757A>G (p.His586Arg) c.1862A>G (p.His621Arg) | gnomAD v4 |
17 | g.44254601T>G | CA399783152 | SLC4A1 | c.1952A>C (p.His651Pro) c.854A>C (p.His285Pro) c.1757A>C (p.His586Pro) c.1862A>C (p.His621Pro) | |
17 | g.44254602G>A | CA399783156 | SLC4A1 | c.1951C>T (p.His651Tyr) c.853C>T (p.His285Tyr) c.1756C>T (p.His586Tyr) c.1861C>T (p.His621Tyr) | gnomAD v4 |
17 | g.44254602G>C | CA399783157 | SLC4A1 | c.1951C>G (p.His651Asp) c.853C>G (p.His285Asp) c.1756C>G (p.His586Asp) c.1861C>G (p.His621Asp) | |
17 | g.44254602G>T | CA399783155 | SLC4A1 | c.1951C>A (p.His651Asn) c.853C>A (p.His285Asn) c.1756C>A (p.His586Asn) c.1861C>A (p.His621Asn) | |
17 | g.44254603G>A | CA500285669 | SLC4A1 | c.1950C>T (p.Ile650=) c.852C>T (p.Ile284=) c.1755C>T (p.Ile585=) c.1860C>T (p.Ile620=) | |
17 | g.44254603G>C | CA399783162 | SLC4A1 | c.1950C>G (p.Ile650Met) c.852C>G (p.Ile284Met) c.1755C>G (p.Ile585Met) c.1860C>G (p.Ile620Met) | |
17 | g.44254603G>T | CA500285670 | SLC4A1 | c.1950C>A (p.Ile650=) c.852C>A (p.Ile284=) c.1755C>A (p.Ile585=) c.1860C>A (p.Ile620=) | |
17 | g.44254604A>C | CA399783169 | SLC4A1 | c.1949T>G (p.Ile650Ser) c.851T>G (p.Ile284Ser) c.1754T>G (p.Ile585Ser) c.1859T>G (p.Ile620Ser) | |
17 | g.44254604A>G | CA399783172 | SLC4A1 | c.1949T>C (p.Ile650Thr) c.851T>C (p.Ile284Thr) c.1754T>C (p.Ile585Thr) c.1859T>C (p.Ile620Thr) | |
17 | g.44254604A>T | CA399783173 | SLC4A1 | c.1949T>A (p.Ile650Asn) c.851T>A (p.Ile284Asn) c.1754T>A (p.Ile585Asn) c.1859T>A (p.Ile620Asn) | |
17 | g.44254605T>A | CA399783178 | SLC4A1 | c.1948A>T (p.Ile650Phe) c.850A>T (p.Ile284Phe) c.1753A>T (p.Ile585Phe) c.1858A>T (p.Ile620Phe) | |
17 | g.44254605T>C | CA399783181 | SLC4A1 | c.1948A>G (p.Ile650Val) c.850A>G (p.Ile284Val) c.1753A>G (p.Ile585Val) c.1858A>G (p.Ile620Val) | gnomAD v4 |
17 | g.44254605T>G | CA399783183 | SLC4A1 | c.1948A>C (p.Ile650Leu) c.850A>C (p.Ile284Leu) c.1753A>C (p.Ile585Leu) c.1858A>C (p.Ile620Leu) | gnomAD v4 |
17 | g.44254606G>A | CA8600161 | SLC4A1 | c.1947C>T (p.Val649=) c.849C>T (p.Val283=) c.1752C>T (p.Val584=) c.1857C>T (p.Val619=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44254606G>C | CA500285680 | SLC4A1 | c.1947C>G (p.Val649=) c.849C>G (p.Val283=) c.1752C>G (p.Val584=) c.1857C>G (p.Val619=) | |
17 | g.44254606G= | CA2261308286 | SLC4A1 | c.1947C= (p.Val649=) c.849C= (p.Val283=) c.1752C= (p.Val584=) c.1857C= (p.Val619=) | |
17 | g.44254606G>T | CA500285682 | SLC4A1 | c.1947C>A (p.Val649=) c.849C>A (p.Val283=) c.1752C>A (p.Val584=) c.1857C>A (p.Val619=) | |
17 | g.44254607A>C | CA399783193 | SLC4A1 | c.1946T>G (p.Val649Gly) c.848T>G (p.Val283Gly) c.1751T>G (p.Val584Gly) c.1856T>G (p.Val619Gly) | |
17 | g.44254607A>G | CA399783200 | SLC4A1 | c.1946T>C (p.Val649Ala) c.848T>C (p.Val283Ala) c.1751T>C (p.Val584Ala) c.1856T>C (p.Val619Ala) | |
17 | g.44254607A>T | CA399783211 | SLC4A1 | c.1946T>A (p.Val649Asp) c.848T>A (p.Val283Asp) c.1751T>A (p.Val584Asp) c.1856T>A (p.Val619Asp) | |
17 | g.44254608C>A | CA399783214 | SLC4A1 | c.1945G>T (p.Val649Phe) c.847G>T (p.Val283Phe) c.1750G>T (p.Val584Phe) c.1855G>T (p.Val619Phe) | |
17 | g.44254608C>G | CA399783216 | SLC4A1 | c.1945G>C (p.Val649Leu) c.847G>C (p.Val283Leu) c.1750G>C (p.Val584Leu) c.1855G>C (p.Val619Leu) | |
17 | g.44254608C>T | CA399783221 | SLC4A1 | c.1945G>A (p.Val649Ile) c.847G>A (p.Val283Ile) c.1750G>A (p.Val584Ile) c.1855G>A (p.Val619Ile) | |
17 | g.44254609C>A | CA399783245 | SLC4A1 | c.1944G>T (p.Trp648Cys) c.846G>T (p.Trp282Cys) c.1749G>T (p.Trp583Cys) c.1854G>T (p.Trp618Cys) | |
17 | g.44254609C= | CA2261308287 | SLC4A1 | c.1944G= (p.Trp648=) c.846G= (p.Trp282=) c.1749G= (p.Trp583=) c.1854G= (p.Trp618=) | |
17 | g.44254609C>G | CA399783241 | SLC4A1 | c.1944G>C (p.Trp648Cys) c.846G>C (p.Trp282Cys) c.1749G>C (p.Trp583Cys) c.1854G>C (p.Trp618Cys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254609C>T | CA399783238 | SLC4A1 | c.1944G>A (p.Trp648Ter) c.846G>A (p.Trp282Ter) c.1749G>A (p.Trp583Ter) c.1854G>A (p.Trp618Ter) | |
17 | g.44254610C>A | CA399783249 | SLC4A1 | c.1943G>T (p.Trp648Leu) c.845G>T (p.Trp282Leu) c.1748G>T (p.Trp583Leu) c.1853G>T (p.Trp618Leu) | |
17 | g.44254610C>G | CA399783252 | SLC4A1 | c.1943G>C (p.Trp648Ser) c.845G>C (p.Trp282Ser) c.1748G>C (p.Trp583Ser) c.1853G>C (p.Trp618Ser) | gnomAD v4 |
17 | g.44254610C>T | CA399783255 | SLC4A1 | c.1943G>A (p.Trp648Ter) c.845G>A (p.Trp282Ter) c.1748G>A (p.Trp583Ter) c.1853G>A (p.Trp618Ter) | ClinVar |
17 | g.44254611A>C | CA399783266 | SLC4A1 | c.1942T>G (p.Trp648Gly) c.844T>G (p.Trp282Gly) c.1747T>G (p.Trp583Gly) c.1852T>G (p.Trp618Gly) | |
17 | g.44254611A>G | CA399783269 | SLC4A1 | c.1942T>C (p.Trp648Arg) c.844T>C (p.Trp282Arg) c.1747T>C (p.Trp583Arg) c.1852T>C (p.Trp618Arg) | |
17 | g.44254611A>T | CA399783271 | SLC4A1 | c.1942T>A (p.Trp648Arg) c.844T>A (p.Trp282Arg) c.1747T>A (p.Trp583Arg) c.1852T>A (p.Trp618Arg) | |
17 | g.44254612G>A | CA500285702 | SLC4A1 | c.1941C>T (p.Gly647=) c.843C>T (p.Gly281=) c.1746C>T (p.Gly582=) c.1851C>T (p.Gly617=) | |
17 | g.44254612G>C | CA290928549 | SLC4A1 | c.1941C>G (p.Gly647=) c.843C>G (p.Gly281=) c.1746C>G (p.Gly582=) c.1851C>G (p.Gly617=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44254612G= | CA2261308288 | SLC4A1 | c.1941C= (p.Gly647=) c.843C= (p.Gly281=) c.1746C= (p.Gly582=) c.1851C= (p.Gly617=) | |
17 | g.44254612G>T | CA500285706 | SLC4A1 | c.1941C>A (p.Gly647=) c.843C>A (p.Gly281=) c.1746C>A (p.Gly582=) c.1851C>A (p.Gly617=) | |
17 | g.44254613C>A | CA399783277 | SLC4A1 | c.1940G>T (p.Gly647Val) c.842G>T (p.Gly281Val) c.1745G>T (p.Gly582Val) c.1850G>T (p.Gly617Val) | COSMIC |
17 | g.44254613C= | CA2261308289 | SLC4A1 | c.1940G= (p.Gly647=) c.842G= (p.Gly281=) c.1745G= (p.Gly582=) c.1850G= (p.Gly617=) | |
17 | g.44254613C>G | CA399783280 | SLC4A1 | c.1940G>C (p.Gly647Ala) c.842G>C (p.Gly281Ala) c.1745G>C (p.Gly582Ala) c.1850G>C (p.Gly617Ala) | |
17 | g.44254613C>T | CA8600162 | SLC4A1 | c.1940G>A (p.Gly647Asp) c.842G>A (p.Gly281Asp) c.1745G>A (p.Gly582Asp) c.1850G>A (p.Gly617Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254616del | CA2638191307 | SLC4A1 | c.1940del (p.Gly647AlafsTer17) c.842del (p.Gly281AlafsTer17) c.1745del (p.Gly582AlafsTer17) c.1850del (p.Gly617AlafsTer17) | gnomAD v4 |
17 | g.44254614C>A | CA399783292 | SLC4A1 | c.1939G>T (p.Gly647Cys) c.841G>T (p.Gly281Cys) c.1744G>T (p.Gly582Cys) c.1849G>T (p.Gly617Cys) | |
17 | g.44254614C>G | CA399783294 | SLC4A1 | c.1939G>C (p.Gly647Arg) c.841G>C (p.Gly281Arg) c.1744G>C (p.Gly582Arg) c.1849G>C (p.Gly617Arg) | |
17 | g.44254614C>T | CA399783298 | SLC4A1 | c.1939G>A (p.Gly647Ser) c.841G>A (p.Gly281Ser) c.1744G>A (p.Gly582Ser) c.1849G>A (p.Gly617Ser) | |
17 | g.44254615C>A | CA500285719 | SLC4A1 | c.1938G>T (p.Arg646=) c.840G>T (p.Arg280=) c.1743G>T (p.Arg581=) c.1848G>T (p.Arg616=) | |
17 | g.44254615C>G | CA500285721 | SLC4A1 | c.1938G>C (p.Arg646=) c.840G>C (p.Arg280=) c.1743G>C (p.Arg581=) c.1848G>C (p.Arg616=) | |
17 | g.44254615C>T | CA500285716 | SLC4A1 | c.1938G>A (p.Arg646=) c.840G>A (p.Arg280=) c.1743G>A (p.Arg581=) c.1848G>A (p.Arg616=) | gnomAD v4 |
17 | g.44254616C>A | CA399783302 | SLC4A1 | c.1937G>T (p.Arg646Leu) c.839G>T (p.Arg280Leu) c.1742G>T (p.Arg581Leu) c.1847G>T (p.Arg616Leu) | |
17 | g.44254616C= | CA2261308290 | SLC4A1 | c.1937G= (p.Arg646=) c.839G= (p.Arg280=) c.1742G= (p.Arg581=) c.1847G= (p.Arg616=) | |
17 | g.44254616C>G | CA399783305 | SLC4A1 | c.1937G>C (p.Arg646Pro) c.839G>C (p.Arg280Pro) c.1742G>C (p.Arg581Pro) c.1847G>C (p.Arg616Pro) | gnomAD v4 |
17 | g.44254616C>T | CA127408 | SLC4A1 | c.1937G>A (p.Arg646Gln) c.839G>A (p.Arg280Gln) c.1742G>A (p.Arg581Gln) c.1847G>A (p.Arg616Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254617G>A | CA127400 | SLC4A1 | c.1936C>T (p.Arg646Trp) c.838C>T (p.Arg280Trp) c.1741C>T (p.Arg581Trp) c.1846C>T (p.Arg616Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254617G>C | CA399783310 | SLC4A1 | c.1936C>G (p.Arg646Gly) c.838C>G (p.Arg280Gly) c.1741C>G (p.Arg581Gly) c.1846C>G (p.Arg616Gly) | gnomAD v3 gnomAD v4 |
17 | g.44254617G= | CA2261308291 | SLC4A1 | c.1936C= (p.Arg646=) c.838C= (p.Arg280=) c.1741C= (p.Arg581=) c.1846C= (p.Arg616=) | |
17 | g.44254617G>T | CA290928566 | SLC4A1 | c.1936C>A (p.Arg646=) c.838C>A (p.Arg280=) c.1741C>A (p.Arg581=) c.1846C>A (p.Arg616=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254618G>A | CA500285735 | SLC4A1 | c.1935C>T (p.Ala645=) c.837C>T (p.Ala279=) c.1740C>T (p.Ala580=) c.1845C>T (p.Ala615=) | |
17 | g.44254618G>C | CA8600163 | SLC4A1 | c.1935C>G (p.Ala645=) c.837C>G (p.Ala279=) c.1740C>G (p.Ala580=) c.1845C>G (p.Ala615=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44254618G= | CA2261308292 | SLC4A1 | c.1935C= (p.Ala645=) c.837C= (p.Ala279=) c.1740C= (p.Ala580=) c.1845C= (p.Ala615=) | |
17 | g.44254618G>T | CA500285732 | SLC4A1 | c.1935C>A (p.Ala645=) c.837C>A (p.Ala279=) c.1740C>A (p.Ala580=) c.1845C>A (p.Ala615=) | |
17 | g.44254619G>A | CA399783321 | SLC4A1 | c.1934C>T (p.Ala645Val) c.836C>T (p.Ala279Val) c.1739C>T (p.Ala580Val) c.1844C>T (p.Ala615Val) | |
17 | g.44254619G>C | CA399783324 | SLC4A1 | c.1934C>G (p.Ala645Gly) c.836C>G (p.Ala279Gly) c.1739C>G (p.Ala580Gly) c.1844C>G (p.Ala615Gly) | |
17 | g.44254619G>T | CA399783331 | SLC4A1 | c.1934C>A (p.Ala645Asp) c.836C>A (p.Ala279Asp) c.1739C>A (p.Ala580Asp) c.1844C>A (p.Ala615Asp) | |
17 | g.44254620C>A | CA399783334 | SLC4A1 | c.1933G>T (p.Ala645Ser) c.835G>T (p.Ala279Ser) c.1738G>T (p.Ala580Ser) c.1843G>T (p.Ala615Ser) | |
17 | g.44254620C>G | CA399783349 | SLC4A1 | c.1933G>C (p.Ala645Pro) c.835G>C (p.Ala279Pro) c.1738G>C (p.Ala580Pro) c.1843G>C (p.Ala615Pro) | |
17 | g.44254620C>T | CA399783352 | SLC4A1 | c.1933G>A (p.Ala645Thr) c.835G>A (p.Ala279Thr) c.1738G>A (p.Ala580Thr) c.1843G>A (p.Ala615Thr) | |
17 | g.44254621T>A | CA500285746 | SLC4A1 | c.1932A>T (p.Ser644=) c.834A>T (p.Ser278=) c.1737A>T (p.Ser579=) c.1842A>T (p.Ser614=) | |
17 | g.44254621T>C | CA500285749 | SLC4A1 | c.1932A>G (p.Ser644=) c.834A>G (p.Ser278=) c.1737A>G (p.Ser579=) c.1842A>G (p.Ser614=) | |
17 | g.44254621T>G | CA500285748 | SLC4A1 | c.1932A>C (p.Ser644=) c.834A>C (p.Ser278=) c.1737A>C (p.Ser579=) c.1842A>C (p.Ser614=) | |
17 | g.44254622G>A | CA399783356 | SLC4A1 | c.1931C>T (p.Ser644Leu) c.833C>T (p.Ser278Leu) c.1736C>T (p.Ser579Leu) c.1841C>T (p.Ser614Leu) | |
17 | g.44254622G>C | CA399783358 | SLC4A1 | c.1931C>G (p.Ser644Ter) c.833C>G (p.Ser278Ter) c.1736C>G (p.Ser579Ter) c.1841C>G (p.Ser614Ter) | |
17 | g.44254622G>T | CA399783361 | SLC4A1 | c.1931C>A (p.Ser644Ter) c.833C>A (p.Ser278Ter) c.1736C>A (p.Ser579Ter) c.1841C>A (p.Ser614Ter) | |
17 | g.44254623A>C | CA399783371 | SLC4A1 | c.1930T>G (p.Ser644Ala) c.832T>G (p.Ser278Ala) c.1735T>G (p.Ser579Ala) c.1840T>G (p.Ser614Ala) | |
17 | g.44254623A>G | CA399783366 | SLC4A1 | c.1930T>C (p.Ser644Pro) c.832T>C (p.Ser278Pro) c.1735T>C (p.Ser579Pro) c.1840T>C (p.Ser614Pro) | |
17 | g.44254623A>T | CA399783369 | SLC4A1 | c.1930T>A (p.Ser644Thr) c.832T>A (p.Ser278Thr) c.1735T>A (p.Ser579Thr) c.1840T>A (p.Ser614Thr) | |
17 | g.44254624G>A | CA500285760 | SLC4A1 | c.1929C>T (p.Ser643=) c.831C>T (p.Ser277=) c.1734C>T (p.Ser578=) c.1839C>T (p.Ser613=) | |
17 | g.44254624G>C | CA500285762 | SLC4A1 | c.1929C>G (p.Ser643=) c.831C>G (p.Ser277=) c.1734C>G (p.Ser578=) c.1839C>G (p.Ser613=) | |
17 | g.44254624G>T | CA500285764 | SLC4A1 | c.1929C>A (p.Ser643=) c.831C>A (p.Ser277=) c.1734C>A (p.Ser578=) c.1839C>A (p.Ser613=) | |
17 | g.44254625G>A | CA8600164 | SLC4A1 | c.1928C>T (p.Ser643Phe) c.830C>T (p.Ser277Phe) c.1733C>T (p.Ser578Phe) c.1838C>T (p.Ser613Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254625G>C | CA399783375 | SLC4A1 | c.1928C>G (p.Ser643Cys) c.830C>G (p.Ser277Cys) c.1733C>G (p.Ser578Cys) c.1838C>G (p.Ser613Cys) | |
17 | g.44254625G= | CA2261308293 | SLC4A1 | c.1928C= (p.Ser643=) c.830C= (p.Ser277=) c.1733C= (p.Ser578=) c.1838C= (p.Ser613=) | |
17 | g.44254625G>T | CA399783378 | SLC4A1 | c.1928C>A (p.Ser643Tyr) c.830C>A (p.Ser277Tyr) c.1733C>A (p.Ser578Tyr) c.1838C>A (p.Ser613Tyr) | |
17 | g.44254626A= | CA2261308294 | SLC4A1 | c.1927T= (p.Ser643=) c.829T= (p.Ser277=) c.1732T= (p.Ser578=) c.1837T= (p.Ser613=) | |
17 | g.44254626A>C | CA399783385 | SLC4A1 | c.1927T>G (p.Ser643Ala) c.829T>G (p.Ser277Ala) c.1732T>G (p.Ser578Ala) c.1837T>G (p.Ser613Ala) | |
17 | g.44254626A>G | CA399783387 | SLC4A1 | c.1927T>C (p.Ser643Pro) c.829T>C (p.Ser277Pro) c.1732T>C (p.Ser578Pro) c.1837T>C (p.Ser613Pro) | |
17 | g.44254626A>T | CA399783389 | SLC4A1 | c.1927T>A (p.Ser643Thr) c.829T>A (p.Ser277Thr) c.1732T>A (p.Ser578Thr) c.1837T>A (p.Ser613Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44254627G>A | CA8600165 | SLC4A1 | c.1926C>T (p.Asn642=) c.828C>T (p.Asn276=) c.1731C>T (p.Asn577=) c.1836C>T (p.Asn612=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44254627G>C | CA399783392 | SLC4A1 | c.1926C>G (p.Asn642Lys) c.828C>G (p.Asn276Lys) c.1731C>G (p.Asn577Lys) c.1836C>G (p.Asn612Lys) | |
17 | g.44254627G= | CA2261308295 | SLC4A1 | c.1926C= (p.Asn642=) c.828C= (p.Asn276=) c.1731C= (p.Asn577=) c.1836C= (p.Asn612=) | |
17 | g.44254627G>T | CA399783394 | SLC4A1 | c.1926C>A (p.Asn642Lys) c.828C>A (p.Asn276Lys) c.1731C>A (p.Asn577Lys) c.1836C>A (p.Asn612Lys) | |
17 | g.44254628T>A | CA399783400 | SLC4A1 | c.1925A>T (p.Asn642Ile) c.827A>T (p.Asn276Ile) c.1730A>T (p.Asn577Ile) c.1835A>T (p.Asn612Ile) | |
17 | g.44254628T>C | CA399783401 | SLC4A1 | c.1925A>G (p.Asn642Ser) c.827A>G (p.Asn276Ser) c.1730A>G (p.Asn577Ser) c.1835A>G (p.Asn612Ser) | gnomAD v4 |
17 | g.44254628T>G | CA399783404 | SLC4A1 | c.1925A>C (p.Asn642Thr) c.827A>C (p.Asn276Thr) c.1730A>C (p.Asn577Thr) c.1835A>C (p.Asn612Thr) | |
17 | g.44254629T>A | CA399783411 | SLC4A1 | c.1924A>T (p.Asn642Tyr) c.826A>T (p.Asn276Tyr) c.1729A>T (p.Asn577Tyr) c.1834A>T (p.Asn612Tyr) | |
17 | g.44254629T>C | CA399783413 | SLC4A1 | c.1924A>G (p.Asn642Asp) c.826A>G (p.Asn276Asp) c.1729A>G (p.Asn577Asp) c.1834A>G (p.Asn612Asp) | |
17 | g.44254629T>G | CA399783410 | SLC4A1 | c.1924A>C (p.Asn642His) c.826A>C (p.Asn276His) c.1729A>C (p.Asn577His) c.1834A>C (p.Asn612His) | |
17 | g.44254630G>A | CA500285786 | SLC4A1 | c.1923C>T (p.Ser641=) c.825C>T (p.Ser275=) c.1728C>T (p.Ser576=) c.1833C>T (p.Ser611=) | |
17 | g.44254630G>C | CA500285788 | SLC4A1 | c.1923C>G (p.Ser641=) c.825C>G (p.Ser275=) c.1728C>G (p.Ser576=) c.1833C>G (p.Ser611=) | |
17 | g.44254630G>T | CA500285789 | SLC4A1 | c.1923C>A (p.Ser641=) c.825C>A (p.Ser275=) c.1728C>A (p.Ser576=) c.1833C>A (p.Ser611=) |