Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.3228958_3228961delinsTTGACA2346475255SLC4A11c.2069_2072delinsTCAA (p.Ile690=)
c.2000_2003delinsTCAA (p.Ile667=)
c.1940_1943delinsTCAA (p.Ile647=)
c.1955_1958delinsTCAA (p.Ile652=)
c.2117_2120delinsTCAA (p.Ile706=)
c.2198_2201delinsTCAA (p.Ile733=)
c.*217_*220delinsTCAA (n.*217_*220delinsTCAA)
n.662_665delinsTCAA
c.2438_2441delinsTCAA (p.Ile813=)
c.2012_2015delinsTCAA (p.Ile671=)
c.2036_2039delinsTCAA (p.Ile679=)
n.2167_2170delinsTCAA
c.2432_2435delinsTCAA (p.Ile811=)
n.2612_2615delinsTCAA
n.2592_2595delinsTCAA
c.2084_2087delinsTCAA (p.Ile695=)
n.2577_2580delinsTCAA
20g.3228964_3228966delCA920153246SLC4A11c.2069_2071del (p.Ile690del)
c.2000_2002del (p.Ile667del)
c.1940_1942del (p.Ile647del)
c.1955_1957del (p.Ile652del)
c.2117_2119del (p.Ile706del)
c.2198_2200del (p.Ile733del)
c.*217_*219del (n.*217_*219del)
n.662_664del
c.2438_2440del (p.Ile813del)
c.2012_2014del (p.Ile671del)
c.2036_2038del (p.Ile679del)
n.2167_2169del
c.2432_2434del (p.Ile811del)
n.2612_2614del
n.2592_2594del
c.2084_2086del (p.Ile695del)
n.2577_2579del
 dbSNP gnomAD v4
20g.3228960G>ACA509558306SLC4A11c.2070C>T (p.Ile690=)
c.2001C>T (p.Ile667=)
c.1941C>T (p.Ile647=)
c.1956C>T (p.Ile652=)
c.2118C>T (p.Ile706=)
c.2199C>T (p.Ile733=)
c.*218C>T (n.*218C>T)
n.663C>T
c.2439C>T (p.Ile813=)
c.2013C>T (p.Ile671=)
c.2037C>T (p.Ile679=)
n.2168C>T
c.2433C>T (p.Ile811=)
n.2613C>T
n.2593C>T
c.2085C>T (p.Ile695=)
n.2578C>T
 gnomAD v4
20g.3228960G>CCA408087084SLC4A11c.2070C>G (p.Ile690Met)
c.2001C>G (p.Ile667Met)
c.1941C>G (p.Ile647Met)
c.1956C>G (p.Ile652Met)
c.2118C>G (p.Ile706Met)
c.2199C>G (p.Ile733Met)
c.*218C>G (n.*218C>G)
n.663C>G
c.2439C>G (p.Ile813Met)
c.2013C>G (p.Ile671Met)
c.2037C>G (p.Ile679Met)
n.2168C>G
c.2433C>G (p.Ile811Met)
n.2613C>G
n.2593C>G
c.2085C>G (p.Ile695Met)
n.2578C>G
20g.3228960G>TCA509558305SLC4A11c.2070C>A (p.Ile690=)
c.2001C>A (p.Ile667=)
c.1941C>A (p.Ile647=)
c.1956C>A (p.Ile652=)
c.2118C>A (p.Ile706=)
c.2199C>A (p.Ile733=)
c.*218C>A (n.*218C>A)
n.663C>A
c.2439C>A (p.Ile813=)
c.2013C>A (p.Ile671=)
c.2037C>A (p.Ile679=)
n.2168C>A
c.2433C>A (p.Ile811=)
n.2613C>A
n.2593C>A
c.2085C>A (p.Ile695=)
n.2578C>A
20g.3228961A>CCA408087087SLC4A11c.2069T>G (p.Ile690Ser)
c.2000T>G (p.Ile667Ser)
c.1940T>G (p.Ile647Ser)
c.1955T>G (p.Ile652Ser)
c.2117T>G (p.Ile706Ser)
c.2198T>G (p.Ile733Ser)
c.*217T>G (n.*217T>G)
n.662T>G
c.2438T>G (p.Ile813Ser)
c.2012T>G (p.Ile671Ser)
c.2036T>G (p.Ile679Ser)
n.2167T>G
c.2432T>G (p.Ile811Ser)
n.2612T>G
n.2592T>G
c.2084T>G (p.Ile695Ser)
n.2577T>G
20g.3228961A>GCA408087086SLC4A11c.2069T>C (p.Ile690Thr)
c.2000T>C (p.Ile667Thr)
c.1940T>C (p.Ile647Thr)
c.1955T>C (p.Ile652Thr)
c.2117T>C (p.Ile706Thr)
c.2198T>C (p.Ile733Thr)
c.*217T>C (n.*217T>C)
n.662T>C
c.2438T>C (p.Ile813Thr)
c.2012T>C (p.Ile671Thr)
c.2036T>C (p.Ile679Thr)
n.2167T>C
c.2432T>C (p.Ile811Thr)
n.2612T>C
n.2592T>C
c.2084T>C (p.Ile695Thr)
n.2577T>C
20g.3228961A>TCA408087085SLC4A11c.2069T>A (p.Ile690Asn)
c.2000T>A (p.Ile667Asn)
c.1940T>A (p.Ile647Asn)
c.1955T>A (p.Ile652Asn)
c.2117T>A (p.Ile706Asn)
c.2198T>A (p.Ile733Asn)
c.*217T>A (n.*217T>A)
n.662T>A
c.2438T>A (p.Ile813Asn)
c.2012T>A (p.Ile671Asn)
c.2036T>A (p.Ile679Asn)
n.2167T>A
c.2432T>A (p.Ile811Asn)
n.2612T>A
n.2592T>A
c.2084T>A (p.Ile695Asn)
n.2577T>A
20g.3228962T>ACA408087088SLC4A11c.2068A>T (p.Ile690Phe)
c.1999A>T (p.Ile667Phe)
c.1939A>T (p.Ile647Phe)
c.1954A>T (p.Ile652Phe)
c.2116A>T (p.Ile706Phe)
c.2197A>T (p.Ile733Phe)
c.*216A>T (n.*216A>T)
n.661A>T
c.2437A>T (p.Ile813Phe)
c.2011A>T (p.Ile671Phe)
c.2035A>T (p.Ile679Phe)
n.2166A>T
c.2431A>T (p.Ile811Phe)
n.2611A>T
n.2591A>T
c.2083A>T (p.Ile695Phe)
n.2576A>T
20g.3228962T>CCA408087089SLC4A11c.2068A>G (p.Ile690Val)
c.1999A>G (p.Ile667Val)
c.1939A>G (p.Ile647Val)
c.1954A>G (p.Ile652Val)
c.2116A>G (p.Ile706Val)
c.2197A>G (p.Ile733Val)
c.*216A>G (n.*216A>G)
n.661A>G
c.2437A>G (p.Ile813Val)
c.2011A>G (p.Ile671Val)
c.2035A>G (p.Ile679Val)
n.2166A>G
c.2431A>G (p.Ile811Val)
n.2611A>G
n.2591A>G
c.2083A>G (p.Ile695Val)
n.2576A>G
 dbSNP gnomAD v2 gnomAD v4
20g.3228962T>GCA408087090SLC4A11c.2068A>C (p.Ile690Leu)
c.1999A>C (p.Ile667Leu)
c.1939A>C (p.Ile647Leu)
c.1954A>C (p.Ile652Leu)
c.2116A>C (p.Ile706Leu)
c.2197A>C (p.Ile733Leu)
c.*216A>C (n.*216A>C)
n.661A>C
c.2437A>C (p.Ile813Leu)
c.2011A>C (p.Ile671Leu)
c.2035A>C (p.Ile679Leu)
n.2166A>C
c.2431A>C (p.Ile811Leu)
n.2611A>C
n.2591A>C
c.2083A>C (p.Ile695Leu)
n.2576A>C
20g.3228962T=CA2346475256SLC4A11c.2068A= (p.Ile690=)
c.1999A= (p.Ile667=)
c.1939A= (p.Ile647=)
c.1954A= (p.Ile652=)
c.2116A= (p.Ile706=)
c.2197A= (p.Ile733=)
c.*216A= (n.*216A=)
n.661A=
c.2437A= (p.Ile813=)
c.2011A= (p.Ile671=)
c.2035A= (p.Ile679=)
n.2166A=
c.2431A= (p.Ile811=)
n.2611A=
n.2591A=
c.2083A= (p.Ile695=)
n.2576A=
20g.3228963G>ACA310985950SLC4A11c.2067C>T (p.Ile689=)
c.1998C>T (p.Ile666=)
c.1938C>T (p.Ile646=)
c.1953C>T (p.Ile651=)
c.2115C>T (p.Ile705=)
c.2196C>T (p.Ile732=)
c.*215C>T (n.*215C>T)
n.660C>T
c.2436C>T (p.Ile812=)
c.2010C>T (p.Ile670=)
c.2034C>T (p.Ile678=)
n.2165C>T
c.2430C>T (p.Ile810=)
n.2610C>T
n.2590C>T
c.2082C>T (p.Ile694=)
n.2575C>T
 dbSNP gnomAD v3 gnomAD v4
20g.3228963G>CCA408087091SLC4A11c.2067C>G (p.Ile689Met)
c.1998C>G (p.Ile666Met)
c.1938C>G (p.Ile646Met)
c.1953C>G (p.Ile651Met)
c.2115C>G (p.Ile705Met)
c.2196C>G (p.Ile732Met)
c.*215C>G (n.*215C>G)
n.660C>G
c.2436C>G (p.Ile812Met)
c.2010C>G (p.Ile670Met)
c.2034C>G (p.Ile678Met)
n.2165C>G
c.2430C>G (p.Ile810Met)
n.2610C>G
n.2590C>G
c.2082C>G (p.Ile694Met)
n.2575C>G
20g.3228963G=CA2346475257SLC4A11c.2067C= (p.Ile689=)
c.1998C= (p.Ile666=)
c.1938C= (p.Ile646=)
c.1953C= (p.Ile651=)
c.2115C= (p.Ile705=)
c.2196C= (p.Ile732=)
c.*215C= (n.*215C=)
n.660C=
c.2436C= (p.Ile812=)
c.2010C= (p.Ile670=)
c.2034C= (p.Ile678=)
n.2165C=
c.2430C= (p.Ile810=)
n.2610C=
n.2590C=
c.2082C= (p.Ile694=)
n.2575C=
20g.3228963G>TCA509558196SLC4A11c.2067C>A (p.Ile689=)
c.1998C>A (p.Ile666=)
c.1938C>A (p.Ile646=)
c.1953C>A (p.Ile651=)
c.2115C>A (p.Ile705=)
c.2196C>A (p.Ile732=)
c.*215C>A (n.*215C>A)
n.660C>A
c.2436C>A (p.Ile812=)
c.2010C>A (p.Ile670=)
c.2034C>A (p.Ile678=)
n.2165C>A
c.2430C>A (p.Ile810=)
n.2610C>A
n.2590C>A
c.2082C>A (p.Ile694=)
n.2575C>A
20g.3228964A>CCA408087092SLC4A11c.2066T>G (p.Ile689Ser)
c.1997T>G (p.Ile666Ser)
c.1937T>G (p.Ile646Ser)
c.1952T>G (p.Ile651Ser)
c.2114T>G (p.Ile705Ser)
c.2195T>G (p.Ile732Ser)
c.*214T>G (n.*214T>G)
n.659T>G
c.2435T>G (p.Ile812Ser)
c.2009T>G (p.Ile670Ser)
c.2033T>G (p.Ile678Ser)
n.2164T>G
c.2429T>G (p.Ile810Ser)
n.2609T>G
n.2589T>G
c.2081T>G (p.Ile694Ser)
n.2574T>G
20g.3228964A>GCA408087093SLC4A11c.2066T>C (p.Ile689Thr)
c.1997T>C (p.Ile666Thr)
c.1937T>C (p.Ile646Thr)
c.1952T>C (p.Ile651Thr)
c.2114T>C (p.Ile705Thr)
c.2195T>C (p.Ile732Thr)
c.*214T>C (n.*214T>C)
n.659T>C
c.2435T>C (p.Ile812Thr)
c.2009T>C (p.Ile670Thr)
c.2033T>C (p.Ile678Thr)
n.2164T>C
c.2429T>C (p.Ile810Thr)
n.2609T>C
n.2589T>C
c.2081T>C (p.Ile694Thr)
n.2574T>C
20g.3228964A>TCA408087094SLC4A11c.2066T>A (p.Ile689Asn)
c.1997T>A (p.Ile666Asn)
c.1937T>A (p.Ile646Asn)
c.1952T>A (p.Ile651Asn)
c.2114T>A (p.Ile705Asn)
c.2195T>A (p.Ile732Asn)
c.*214T>A (n.*214T>A)
n.659T>A
c.2435T>A (p.Ile812Asn)
c.2009T>A (p.Ile670Asn)
c.2033T>A (p.Ile678Asn)
n.2164T>A
c.2429T>A (p.Ile810Asn)
n.2609T>A
n.2589T>A
c.2081T>A (p.Ile694Asn)
n.2574T>A
20g.3228965T>ACA408087095SLC4A11c.2065A>T (p.Ile689Phe)
c.1996A>T (p.Ile666Phe)
c.1936A>T (p.Ile646Phe)
c.1951A>T (p.Ile651Phe)
c.2113A>T (p.Ile705Phe)
c.2194A>T (p.Ile732Phe)
c.*213A>T (n.*213A>T)
n.658A>T
c.2434A>T (p.Ile812Phe)
c.2008A>T (p.Ile670Phe)
c.2032A>T (p.Ile678Phe)
n.2163A>T
c.2428A>T (p.Ile810Phe)
n.2608A>T
n.2588A>T
c.2080A>T (p.Ile694Phe)
n.2573A>T
20g.3228965T>CCA408087096SLC4A11c.2065A>G (p.Ile689Val)
c.1996A>G (p.Ile666Val)
c.1936A>G (p.Ile646Val)
c.1951A>G (p.Ile651Val)
c.2113A>G (p.Ile705Val)
c.2194A>G (p.Ile732Val)
c.*213A>G (n.*213A>G)
n.658A>G
c.2434A>G (p.Ile812Val)
c.2008A>G (p.Ile670Val)
c.2032A>G (p.Ile678Val)
n.2163A>G
c.2428A>G (p.Ile810Val)
n.2608A>G
n.2588A>G
c.2080A>G (p.Ile694Val)
n.2573A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228965T>GCA408087097SLC4A11c.2065A>C (p.Ile689Leu)
c.1996A>C (p.Ile666Leu)
c.1936A>C (p.Ile646Leu)
c.1951A>C (p.Ile651Leu)
c.2113A>C (p.Ile705Leu)
c.2194A>C (p.Ile732Leu)
c.*213A>C (n.*213A>C)
n.658A>C
c.2434A>C (p.Ile812Leu)
c.2008A>C (p.Ile670Leu)
c.2032A>C (p.Ile678Leu)
n.2163A>C
c.2428A>C (p.Ile810Leu)
n.2608A>C
n.2588A>C
c.2080A>C (p.Ile694Leu)
n.2573A>C
20g.3228965T=CA2346475258SLC4A11c.2065A= (p.Ile689=)
c.1996A= (p.Ile666=)
c.1936A= (p.Ile646=)
c.1951A= (p.Ile651=)
c.2113A= (p.Ile705=)
c.2194A= (p.Ile732=)
c.*213A= (n.*213A=)
n.658A=
c.2434A= (p.Ile812=)
c.2008A= (p.Ile670=)
c.2032A= (p.Ile678=)
n.2163A=
c.2428A= (p.Ile810=)
n.2608A=
n.2588A=
c.2080A= (p.Ile694=)
n.2573A=
20g.3228966G>ACA509558199SLC4A11c.2064C>T (p.Ala688=)
c.1995C>T (p.Ala665=)
c.1935C>T (p.Ala645=)
c.1950C>T (p.Ala650=)
c.2112C>T (p.Ala704=)
c.2193C>T (p.Ala731=)
c.*212C>T (n.*212C>T)
n.657C>T
c.2433C>T (p.Ala811=)
c.2007C>T (p.Ala669=)
c.2031C>T (p.Ala677=)
n.2162C>T
c.2427C>T (p.Ala809=)
n.2607C>T
n.2587C>T
c.2079C>T (p.Ala693=)
n.2572C>T
 gnomAD v4
20g.3228966G>CCA509558201SLC4A11c.2064C>G (p.Ala688=)
c.1995C>G (p.Ala665=)
c.1935C>G (p.Ala645=)
c.1950C>G (p.Ala650=)
c.2112C>G (p.Ala704=)
c.2193C>G (p.Ala731=)
c.*212C>G (n.*212C>G)
n.657C>G
c.2433C>G (p.Ala811=)
c.2007C>G (p.Ala669=)
c.2031C>G (p.Ala677=)
n.2162C>G
c.2427C>G (p.Ala809=)
n.2607C>G
n.2587C>G
c.2079C>G (p.Ala693=)
n.2572C>G
20g.3228966G>TCA509558203SLC4A11c.2064C>A (p.Ala688=)
c.1995C>A (p.Ala665=)
c.1935C>A (p.Ala645=)
c.1950C>A (p.Ala650=)
c.2112C>A (p.Ala704=)
c.2193C>A (p.Ala731=)
c.*212C>A (n.*212C>A)
n.657C>A
c.2433C>A (p.Ala811=)
c.2007C>A (p.Ala669=)
c.2031C>A (p.Ala677=)
n.2162C>A
c.2427C>A (p.Ala809=)
n.2607C>A
n.2587C>A
c.2079C>A (p.Ala693=)
n.2572C>A
20g.3228967G>ACA408087098SLC4A11c.2063C>T (p.Ala688Val)
c.1994C>T (p.Ala665Val)
c.1934C>T (p.Ala645Val)
c.1949C>T (p.Ala650Val)
c.2111C>T (p.Ala704Val)
c.2192C>T (p.Ala731Val)
c.*211C>T (n.*211C>T)
n.656C>T
c.2432C>T (p.Ala811Val)
c.2006C>T (p.Ala669Val)
c.2030C>T (p.Ala677Val)
n.2161C>T
c.2426C>T (p.Ala809Val)
n.2606C>T
n.2586C>T
c.2078C>T (p.Ala693Val)
n.2571C>T
 dbSNP gnomAD v4
20g.3228967G>CCA408087099SLC4A11c.2063C>G (p.Ala688Gly)
c.1994C>G (p.Ala665Gly)
c.1934C>G (p.Ala645Gly)
c.1949C>G (p.Ala650Gly)
c.2111C>G (p.Ala704Gly)
c.2192C>G (p.Ala731Gly)
c.*211C>G (n.*211C>G)
n.656C>G
c.2432C>G (p.Ala811Gly)
c.2006C>G (p.Ala669Gly)
c.2030C>G (p.Ala677Gly)
n.2161C>G
c.2426C>G (p.Ala809Gly)
n.2606C>G
n.2586C>G
c.2078C>G (p.Ala693Gly)
n.2571C>G
20g.3228967G=CA2346475259SLC4A11c.2063C= (p.Ala688=)
c.1994C= (p.Ala665=)
c.1934C= (p.Ala645=)
c.1949C= (p.Ala650=)
c.2111C= (p.Ala704=)
c.2192C= (p.Ala731=)
c.*211C= (n.*211C=)
n.656C=
c.2432C= (p.Ala811=)
c.2006C= (p.Ala669=)
c.2030C= (p.Ala677=)
n.2161C=
c.2426C= (p.Ala809=)
n.2606C=
n.2586C=
c.2078C= (p.Ala693=)
n.2571C=
20g.3228967G>TCA408087100SLC4A11c.2063C>A (p.Ala688Asp)
c.1994C>A (p.Ala665Asp)
c.1934C>A (p.Ala645Asp)
c.1949C>A (p.Ala650Asp)
c.2111C>A (p.Ala704Asp)
c.2192C>A (p.Ala731Asp)
c.*211C>A (n.*211C>A)
n.656C>A
c.2432C>A (p.Ala811Asp)
c.2006C>A (p.Ala669Asp)
c.2030C>A (p.Ala677Asp)
n.2161C>A
c.2426C>A (p.Ala809Asp)
n.2606C>A
n.2586C>A
c.2078C>A (p.Ala693Asp)
n.2571C>A
20g.3228968C>ACA408087101SLC4A11c.2062G>T (p.Ala688Ser)
c.1993G>T (p.Ala665Ser)
c.1933G>T (p.Ala645Ser)
c.1948G>T (p.Ala650Ser)
c.2110G>T (p.Ala704Ser)
c.2191G>T (p.Ala731Ser)
c.*210G>T (n.*210G>T)
n.655G>T
c.2431G>T (p.Ala811Ser)
c.2005G>T (p.Ala669Ser)
c.2029G>T (p.Ala677Ser)
n.2160G>T
c.2425G>T (p.Ala809Ser)
n.2605G>T
n.2585G>T
c.2077G>T (p.Ala693Ser)
n.2570G>T
20g.3228968C=CA2346475260SLC4A11c.2062G= (p.Ala688=)
c.1993G= (p.Ala665=)
c.1933G= (p.Ala645=)
c.1948G= (p.Ala650=)
c.2110G= (p.Ala704=)
c.2191G= (p.Ala731=)
c.*210G= (n.*210G=)
n.655G=
c.2431G= (p.Ala811=)
c.2005G= (p.Ala669=)
c.2029G= (p.Ala677=)
n.2160G=
c.2425G= (p.Ala809=)
n.2605G=
n.2585G=
c.2077G= (p.Ala693=)
n.2570G=
20g.3228968C>GCA408087102SLC4A11c.2062G>C (p.Ala688Pro)
c.1993G>C (p.Ala665Pro)
c.1933G>C (p.Ala645Pro)
c.1948G>C (p.Ala650Pro)
c.2110G>C (p.Ala704Pro)
c.2191G>C (p.Ala731Pro)
c.*210G>C (n.*210G>C)
n.655G>C
c.2431G>C (p.Ala811Pro)
c.2005G>C (p.Ala669Pro)
c.2029G>C (p.Ala677Pro)
n.2160G>C
c.2425G>C (p.Ala809Pro)
n.2605G>C
n.2585G>C
c.2077G>C (p.Ala693Pro)
n.2570G>C
20g.3228968C>TCA9741595SLC4A11c.2062G>A (p.Ala688Thr)
c.1993G>A (p.Ala665Thr)
c.1933G>A (p.Ala645Thr)
c.1948G>A (p.Ala650Thr)
c.2110G>A (p.Ala704Thr)
c.2191G>A (p.Ala731Thr)
c.*210G>A (n.*210G>A)
n.655G>A
c.2431G>A (p.Ala811Thr)
c.2005G>A (p.Ala669Thr)
c.2029G>A (p.Ala677Thr)
n.2160G>A
c.2425G>A (p.Ala809Thr)
n.2605G>A
n.2585G>A
c.2077G>A (p.Ala693Thr)
n.2570G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228969G>ACA9741596SLC4A11c.2061C>T (p.Leu687=)
c.1992C>T (p.Leu664=)
c.1932C>T (p.Leu644=)
c.1947C>T (p.Leu649=)
c.2109C>T (p.Leu703=)
c.2190C>T (p.Leu730=)
c.*209C>T (n.*209C>T)
n.654C>T
c.2430C>T (p.Leu810=)
c.2004C>T (p.Leu668=)
c.2028C>T (p.Leu676=)
n.2159C>T
c.2424C>T (p.Leu808=)
n.2604C>T
n.2584C>T
c.2076C>T (p.Leu692=)
n.2569C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228969G>CCA509558208SLC4A11c.2061C>G (p.Leu687=)
c.1992C>G (p.Leu664=)
c.1932C>G (p.Leu644=)
c.1947C>G (p.Leu649=)
c.2109C>G (p.Leu703=)
c.2190C>G (p.Leu730=)
c.*209C>G (n.*209C>G)
n.654C>G
c.2430C>G (p.Leu810=)
c.2004C>G (p.Leu668=)
c.2028C>G (p.Leu676=)
n.2159C>G
c.2424C>G (p.Leu808=)
n.2604C>G
n.2584C>G
c.2076C>G (p.Leu692=)
n.2569C>G
20g.3228969G=CA2346475261SLC4A11c.2061C= (p.Leu687=)
c.1992C= (p.Leu664=)
c.1932C= (p.Leu644=)
c.1947C= (p.Leu649=)
c.2109C= (p.Leu703=)
c.2190C= (p.Leu730=)
c.*209C= (n.*209C=)
n.654C=
c.2430C= (p.Leu810=)
c.2004C= (p.Leu668=)
c.2028C= (p.Leu676=)
n.2159C=
c.2424C= (p.Leu808=)
n.2604C=
n.2584C=
c.2076C= (p.Leu692=)
n.2569C=
20g.3228969G>TCA509558209SLC4A11c.2061C>A (p.Leu687=)
c.1992C>A (p.Leu664=)
c.1932C>A (p.Leu644=)
c.1947C>A (p.Leu649=)
c.2109C>A (p.Leu703=)
c.2190C>A (p.Leu730=)
c.*209C>A (n.*209C>A)
n.654C>A
c.2430C>A (p.Leu810=)
c.2004C>A (p.Leu668=)
c.2028C>A (p.Leu676=)
n.2159C>A
c.2424C>A (p.Leu808=)
n.2604C>A
n.2584C>A
c.2076C>A (p.Leu692=)
n.2569C>A
20g.3228970A>CCA408087103SLC4A11c.2060T>G (p.Leu687Arg)
c.1991T>G (p.Leu664Arg)
c.1931T>G (p.Leu644Arg)
c.1946T>G (p.Leu649Arg)
c.2108T>G (p.Leu703Arg)
c.2189T>G (p.Leu730Arg)
c.*208T>G (n.*208T>G)
n.653T>G
c.2429T>G (p.Leu810Arg)
c.2003T>G (p.Leu668Arg)
c.2027T>G (p.Leu676Arg)
n.2158T>G
c.2423T>G (p.Leu808Arg)
n.2603T>G
n.2583T>G
c.2075T>G (p.Leu692Arg)
n.2568T>G
20g.3228970A>GCA408087104SLC4A11c.2060T>C (p.Leu687Pro)
c.1991T>C (p.Leu664Pro)
c.1931T>C (p.Leu644Pro)
c.1946T>C (p.Leu649Pro)
c.2108T>C (p.Leu703Pro)
c.2189T>C (p.Leu730Pro)
c.*208T>C (n.*208T>C)
n.653T>C
c.2429T>C (p.Leu810Pro)
c.2003T>C (p.Leu668Pro)
c.2027T>C (p.Leu676Pro)
n.2158T>C
c.2423T>C (p.Leu808Pro)
n.2603T>C
n.2583T>C
c.2075T>C (p.Leu692Pro)
n.2568T>C
20g.3228970A>TCA408087105SLC4A11c.2060T>A (p.Leu687His)
c.1991T>A (p.Leu664His)
c.1931T>A (p.Leu644His)
c.1946T>A (p.Leu649His)
c.2108T>A (p.Leu703His)
c.2189T>A (p.Leu730His)
c.*208T>A (n.*208T>A)
n.653T>A
c.2429T>A (p.Leu810His)
c.2003T>A (p.Leu668His)
c.2027T>A (p.Leu676His)
n.2158T>A
c.2423T>A (p.Leu808His)
n.2603T>A
n.2583T>A
c.2075T>A (p.Leu692His)
n.2568T>A
20g.3228971G>ACA408087106SLC4A11c.2059C>T (p.Leu687Phe)
c.1990C>T (p.Leu664Phe)
c.1930C>T (p.Leu644Phe)
c.1945C>T (p.Leu649Phe)
c.2107C>T (p.Leu703Phe)
c.2188C>T (p.Leu730Phe)
c.*207C>T (n.*207C>T)
n.652C>T
c.2428C>T (p.Leu810Phe)
c.2002C>T (p.Leu668Phe)
c.2026C>T (p.Leu676Phe)
n.2157C>T
c.2422C>T (p.Leu808Phe)
n.2602C>T
n.2582C>T
c.2074C>T (p.Leu692Phe)
n.2567C>T
 gnomAD v4
20g.3228971G>CCA408087107SLC4A11c.2059C>G (p.Leu687Val)
c.1990C>G (p.Leu664Val)
c.1930C>G (p.Leu644Val)
c.1945C>G (p.Leu649Val)
c.2107C>G (p.Leu703Val)
c.2188C>G (p.Leu730Val)
c.*207C>G (n.*207C>G)
n.652C>G
c.2428C>G (p.Leu810Val)
c.2002C>G (p.Leu668Val)
c.2026C>G (p.Leu676Val)
n.2157C>G
c.2422C>G (p.Leu808Val)
n.2602C>G
n.2582C>G
c.2074C>G (p.Leu692Val)
n.2567C>G
20g.3228971G>TCA408087108SLC4A11c.2059C>A (p.Leu687Ile)
c.1990C>A (p.Leu664Ile)
c.1930C>A (p.Leu644Ile)
c.1945C>A (p.Leu649Ile)
c.2107C>A (p.Leu703Ile)
c.2188C>A (p.Leu730Ile)
c.*207C>A (n.*207C>A)
n.652C>A
c.2428C>A (p.Leu810Ile)
c.2002C>A (p.Leu668Ile)
c.2026C>A (p.Leu676Ile)
n.2157C>A
c.2422C>A (p.Leu808Ile)
n.2602C>A
n.2582C>A
c.2074C>A (p.Leu692Ile)
n.2567C>A
20g.3228972G>ACA310985959SLC4A11c.2058C>T (p.Leu686=)
c.1989C>T (p.Leu663=)
c.1929C>T (p.Leu643=)
c.1944C>T (p.Leu648=)
c.2106C>T (p.Leu702=)
c.2187C>T (p.Leu729=)
c.*206C>T (n.*206C>T)
n.651C>T
c.2427C>T (p.Leu809=)
c.2001C>T (p.Leu667=)
c.2025C>T (p.Leu675=)
n.2156C>T
c.2421C>T (p.Leu807=)
n.2601C>T
n.2581C>T
c.2073C>T (p.Leu691=)
n.2566C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228972G>CCA9741597SLC4A11c.2058C>G (p.Leu686=)
c.1989C>G (p.Leu663=)
c.1929C>G (p.Leu643=)
c.1944C>G (p.Leu648=)
c.2106C>G (p.Leu702=)
c.2187C>G (p.Leu729=)
c.*206C>G (n.*206C>G)
n.651C>G
c.2427C>G (p.Leu809=)
c.2001C>G (p.Leu667=)
c.2025C>G (p.Leu675=)
n.2156C>G
c.2421C>G (p.Leu807=)
n.2601C>G
n.2581C>G
c.2073C>G (p.Leu691=)
n.2566C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228972G=CA2346475262SLC4A11c.2058C= (p.Leu686=)
c.1989C= (p.Leu663=)
c.1929C= (p.Leu643=)
c.1944C= (p.Leu648=)
c.2106C= (p.Leu702=)
c.2187C= (p.Leu729=)
c.*206C= (n.*206C=)
n.651C=
c.2427C= (p.Leu809=)
c.2001C= (p.Leu667=)
c.2025C= (p.Leu675=)
n.2156C=
c.2421C= (p.Leu807=)
n.2601C=
n.2581C=
c.2073C= (p.Leu691=)
n.2566C=
20g.3228972G>TCA509558216SLC4A11c.2058C>A (p.Leu686=)
c.1989C>A (p.Leu663=)
c.1929C>A (p.Leu643=)
c.1944C>A (p.Leu648=)
c.2106C>A (p.Leu702=)
c.2187C>A (p.Leu729=)
c.*206C>A (n.*206C>A)
n.651C>A
c.2427C>A (p.Leu809=)
c.2001C>A (p.Leu667=)
c.2025C>A (p.Leu675=)
n.2156C>A
c.2421C>A (p.Leu807=)
n.2601C>A
n.2581C>A
c.2073C>A (p.Leu691=)
n.2566C>A
20g.3228973A>CCA408087109SLC4A11c.2057T>G (p.Leu686Arg)
c.1988T>G (p.Leu663Arg)
c.1928T>G (p.Leu643Arg)
c.1943T>G (p.Leu648Arg)
c.2105T>G (p.Leu702Arg)
c.2186T>G (p.Leu729Arg)
c.*205T>G (n.*205T>G)
n.650T>G
c.2426T>G (p.Leu809Arg)
c.2000T>G (p.Leu667Arg)
c.2024T>G (p.Leu675Arg)
n.2155T>G
c.2420T>G (p.Leu807Arg)
n.2600T>G
n.2580T>G
c.2072T>G (p.Leu691Arg)
n.2565T>G
20g.3228973A>GCA408087110SLC4A11c.2057T>C (p.Leu686Pro)
c.1988T>C (p.Leu663Pro)
c.1928T>C (p.Leu643Pro)
c.1943T>C (p.Leu648Pro)
c.2105T>C (p.Leu702Pro)
c.2186T>C (p.Leu729Pro)
c.*205T>C (n.*205T>C)
n.650T>C
c.2426T>C (p.Leu809Pro)
c.2000T>C (p.Leu667Pro)
c.2024T>C (p.Leu675Pro)
n.2155T>C
c.2420T>C (p.Leu807Pro)
n.2600T>C
n.2580T>C
c.2072T>C (p.Leu691Pro)
n.2565T>C
20g.3228973A>TCA408087111SLC4A11c.2057T>A (p.Leu686His)
c.1988T>A (p.Leu663His)
c.1928T>A (p.Leu643His)
c.1943T>A (p.Leu648His)
c.2105T>A (p.Leu702His)
c.2186T>A (p.Leu729His)
c.*205T>A (n.*205T>A)
n.650T>A
c.2426T>A (p.Leu809His)
c.2000T>A (p.Leu667His)
c.2024T>A (p.Leu675His)
n.2155T>A
c.2420T>A (p.Leu807His)
n.2600T>A
n.2580T>A
c.2072T>A (p.Leu691His)
n.2565T>A
20g.3228974G>ACA408087114SLC4A11c.2056C>T (p.Leu686Phe)
c.1987C>T (p.Leu663Phe)
c.1927C>T (p.Leu643Phe)
c.1942C>T (p.Leu648Phe)
c.2104C>T (p.Leu702Phe)
c.2185C>T (p.Leu729Phe)
c.*204C>T (n.*204C>T)
n.649C>T
c.2425C>T (p.Leu809Phe)
c.1999C>T (p.Leu667Phe)
c.2023C>T (p.Leu675Phe)
n.2154C>T
c.2419C>T (p.Leu807Phe)
n.2599C>T
n.2579C>T
c.2071C>T (p.Leu691Phe)
n.2564C>T
 gnomAD v4
20g.3228974G>CCA408087113SLC4A11c.2056C>G (p.Leu686Val)
c.1987C>G (p.Leu663Val)
c.1927C>G (p.Leu643Val)
c.1942C>G (p.Leu648Val)
c.2104C>G (p.Leu702Val)
c.2185C>G (p.Leu729Val)
c.*204C>G (n.*204C>G)
n.649C>G
c.2425C>G (p.Leu809Val)
c.1999C>G (p.Leu667Val)
c.2023C>G (p.Leu675Val)
n.2154C>G
c.2419C>G (p.Leu807Val)
n.2599C>G
n.2579C>G
c.2071C>G (p.Leu691Val)
n.2564C>G
20g.3228974G>TCA408087112SLC4A11c.2056C>A (p.Leu686Ile)
c.1987C>A (p.Leu663Ile)
c.1927C>A (p.Leu643Ile)
c.1942C>A (p.Leu648Ile)
c.2104C>A (p.Leu702Ile)
c.2185C>A (p.Leu729Ile)
c.*204C>A (n.*204C>A)
n.649C>A
c.2425C>A (p.Leu809Ile)
c.1999C>A (p.Leu667Ile)
c.2023C>A (p.Leu675Ile)
n.2154C>A
c.2419C>A (p.Leu807Ile)
n.2599C>A
n.2579C>A
c.2071C>A (p.Leu691Ile)
n.2564C>A
20g.3228975C>ACA509558217SLC4A11c.2055G>T (p.Leu685=)
c.1986G>T (p.Leu662=)
c.1926G>T (p.Leu642=)
c.1941G>T (p.Leu647=)
c.2103G>T (p.Leu701=)
c.2184G>T (p.Leu728=)
c.*203G>T (n.*203G>T)
n.648G>T
c.2424G>T (p.Leu808=)
c.1998G>T (p.Leu666=)
c.2022G>T (p.Leu674=)
n.2153G>T
c.2418G>T (p.Leu806=)
n.2598G>T
n.2578G>T
c.2070G>T (p.Leu690=)
n.2563G>T
20g.3228975C=CA2346475263SLC4A11c.2055G= (p.Leu685=)
c.1986G= (p.Leu662=)
c.1926G= (p.Leu642=)
c.1941G= (p.Leu647=)
c.2103G= (p.Leu701=)
c.2184G= (p.Leu728=)
c.*203G= (n.*203G=)
n.648G=
c.2424G= (p.Leu808=)
c.1998G= (p.Leu666=)
c.2022G= (p.Leu674=)
n.2153G=
c.2418G= (p.Leu806=)
n.2598G=
n.2578G=
c.2070G= (p.Leu690=)
n.2563G=
20g.3228975C>GCA509558218SLC4A11c.2055G>C (p.Leu685=)
c.1986G>C (p.Leu662=)
c.1926G>C (p.Leu642=)
c.1941G>C (p.Leu647=)
c.2103G>C (p.Leu701=)
c.2184G>C (p.Leu728=)
c.*203G>C (n.*203G>C)
n.648G>C
c.2424G>C (p.Leu808=)
c.1998G>C (p.Leu666=)
c.2022G>C (p.Leu674=)
n.2153G>C
c.2418G>C (p.Leu806=)
n.2598G>C
n.2578G>C
c.2070G>C (p.Leu690=)
n.2563G>C
 dbSNP
20g.3228975C>TCA509558219SLC4A11c.2055G>A (p.Leu685=)
c.1986G>A (p.Leu662=)
c.1926G>A (p.Leu642=)
c.1941G>A (p.Leu647=)
c.2103G>A (p.Leu701=)
c.2184G>A (p.Leu728=)
c.*203G>A (n.*203G>A)
n.648G>A
c.2424G>A (p.Leu808=)
c.1998G>A (p.Leu666=)
c.2022G>A (p.Leu674=)
n.2153G>A
c.2418G>A (p.Leu806=)
n.2598G>A
n.2578G>A
c.2070G>A (p.Leu690=)
n.2563G>A
20g.3228976A>CCA408087115SLC4A11c.2054T>G (p.Leu685Arg)
c.1985T>G (p.Leu662Arg)
c.1925T>G (p.Leu642Arg)
c.1940T>G (p.Leu647Arg)
c.2102T>G (p.Leu701Arg)
c.2183T>G (p.Leu728Arg)
c.*202T>G (n.*202T>G)
n.647T>G
c.2423T>G (p.Leu808Arg)
c.1997T>G (p.Leu666Arg)
c.2021T>G (p.Leu674Arg)
n.2152T>G
c.2417T>G (p.Leu806Arg)
n.2597T>G
n.2577T>G
c.2069T>G (p.Leu690Arg)
n.2562T>G
 gnomAD v4
20g.3228976A>GCA408087116SLC4A11c.2054T>C (p.Leu685Pro)
c.1985T>C (p.Leu662Pro)
c.1925T>C (p.Leu642Pro)
c.1940T>C (p.Leu647Pro)
c.2102T>C (p.Leu701Pro)
c.2183T>C (p.Leu728Pro)
c.*202T>C (n.*202T>C)
n.647T>C
c.2423T>C (p.Leu808Pro)
c.1997T>C (p.Leu666Pro)
c.2021T>C (p.Leu674Pro)
n.2152T>C
c.2417T>C (p.Leu806Pro)
n.2597T>C
n.2577T>C
c.2069T>C (p.Leu690Pro)
n.2562T>C
20g.3228976A>TCA408087117SLC4A11c.2054T>A (p.Leu685Gln)
c.1985T>A (p.Leu662Gln)
c.1925T>A (p.Leu642Gln)
c.1940T>A (p.Leu647Gln)
c.2102T>A (p.Leu701Gln)
c.2183T>A (p.Leu728Gln)
c.*202T>A (n.*202T>A)
n.647T>A
c.2423T>A (p.Leu808Gln)
c.1997T>A (p.Leu666Gln)
c.2021T>A (p.Leu674Gln)
n.2152T>A
c.2417T>A (p.Leu806Gln)
n.2597T>A
n.2577T>A
c.2069T>A (p.Leu690Gln)
n.2562T>A
20g.3228977G>ACA9741598SLC4A11c.2053C>T (p.Leu685=)
c.1984C>T (p.Leu662=)
c.1924C>T (p.Leu642=)
c.1939C>T (p.Leu647=)
c.2101C>T (p.Leu701=)
c.2182C>T (p.Leu728=)
c.*201C>T (n.*201C>T)
n.646C>T
c.2422C>T (p.Leu808=)
c.1996C>T (p.Leu666=)
c.2020C>T (p.Leu674=)
n.2151C>T
c.2416C>T (p.Leu806=)
n.2596C>T
n.2576C>T
c.2068C>T (p.Leu690=)
n.2561C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3228977G>CCA408087118SLC4A11c.2053C>G (p.Leu685Val)
c.1984C>G (p.Leu662Val)
c.1924C>G (p.Leu642Val)
c.1939C>G (p.Leu647Val)
c.2101C>G (p.Leu701Val)
c.2182C>G (p.Leu728Val)
c.*201C>G (n.*201C>G)
n.646C>G
c.2422C>G (p.Leu808Val)
c.1996C>G (p.Leu666Val)
c.2020C>G (p.Leu674Val)
n.2151C>G
c.2416C>G (p.Leu806Val)
n.2596C>G
n.2576C>G
c.2068C>G (p.Leu690Val)
n.2561C>G
 dbSNP gnomAD v4
20g.3228977G=CA2346475264SLC4A11c.2053C= (p.Leu685=)
c.1984C= (p.Leu662=)
c.1924C= (p.Leu642=)
c.1939C= (p.Leu647=)
c.2101C= (p.Leu701=)
c.2182C= (p.Leu728=)
c.*201C= (n.*201C=)
n.646C=
c.2422C= (p.Leu808=)
c.1996C= (p.Leu666=)
c.2020C= (p.Leu674=)
n.2151C=
c.2416C= (p.Leu806=)
n.2596C=
n.2576C=
c.2068C= (p.Leu690=)
n.2561C=
20g.3228977G>TCA408087119SLC4A11c.2053C>A (p.Leu685Met)
c.1984C>A (p.Leu662Met)
c.1924C>A (p.Leu642Met)
c.1939C>A (p.Leu647Met)
c.2101C>A (p.Leu701Met)
c.2182C>A (p.Leu728Met)
c.*201C>A (n.*201C>A)
n.646C>A
c.2422C>A (p.Leu808Met)
c.1996C>A (p.Leu666Met)
c.2020C>A (p.Leu674Met)
n.2151C>A
c.2416C>A (p.Leu806Met)
n.2596C>A
n.2576C>A
c.2068C>A (p.Leu690Met)
n.2561C>A
20g.3228978G>ACA509558226SLC4A11c.2052C>T (p.Leu684=)
c.1983C>T (p.Leu661=)
c.1923C>T (p.Leu641=)
c.1938C>T (p.Leu646=)
c.2100C>T (p.Leu700=)
c.2181C>T (p.Leu727=)
c.*200C>T (n.*200C>T)
n.645C>T
c.2421C>T (p.Leu807=)
c.1995C>T (p.Leu665=)
c.2019C>T (p.Leu673=)
n.2150C>T
c.2415C>T (p.Leu805=)
n.2595C>T
n.2575C>T
c.2067C>T (p.Leu689=)
n.2560C>T
 gnomAD v4
20g.3228978G>CCA509558227SLC4A11c.2052C>G (p.Leu684=)
c.1983C>G (p.Leu661=)
c.1923C>G (p.Leu641=)
c.1938C>G (p.Leu646=)
c.2100C>G (p.Leu700=)
c.2181C>G (p.Leu727=)
c.*200C>G (n.*200C>G)
n.645C>G
c.2421C>G (p.Leu807=)
c.1995C>G (p.Leu665=)
c.2019C>G (p.Leu673=)
n.2150C>G
c.2415C>G (p.Leu805=)
n.2595C>G
n.2575C>G
c.2067C>G (p.Leu689=)
n.2560C>G
20g.3228978G>TCA509558228SLC4A11c.2052C>A (p.Leu684=)
c.1983C>A (p.Leu661=)
c.1923C>A (p.Leu641=)
c.1938C>A (p.Leu646=)
c.2100C>A (p.Leu700=)
c.2181C>A (p.Leu727=)
c.*200C>A (n.*200C>A)
n.645C>A
c.2421C>A (p.Leu807=)
c.1995C>A (p.Leu665=)
c.2019C>A (p.Leu673=)
n.2150C>A
c.2415C>A (p.Leu805=)
n.2595C>A
n.2575C>A
c.2067C>A (p.Leu689=)
n.2560C>A
 gnomAD v4
20g.3228979A>CCA408087120SLC4A11c.2051T>G (p.Leu684Arg)
c.1982T>G (p.Leu661Arg)
c.1922T>G (p.Leu641Arg)
c.1937T>G (p.Leu646Arg)
c.2099T>G (p.Leu700Arg)
c.2180T>G (p.Leu727Arg)
c.*199T>G (n.*199T>G)
n.644T>G
c.2420T>G (p.Leu807Arg)
c.1994T>G (p.Leu665Arg)
c.2018T>G (p.Leu673Arg)
n.2149T>G
c.2414T>G (p.Leu805Arg)
n.2594T>G
n.2574T>G
c.2066T>G (p.Leu689Arg)
n.2559T>G
20g.3228979A>GCA408087121SLC4A11c.2051T>C (p.Leu684Pro)
c.1982T>C (p.Leu661Pro)
c.1922T>C (p.Leu641Pro)
c.1937T>C (p.Leu646Pro)
c.2099T>C (p.Leu700Pro)
c.2180T>C (p.Leu727Pro)
c.*199T>C (n.*199T>C)
n.644T>C
c.2420T>C (p.Leu807Pro)
c.1994T>C (p.Leu665Pro)
c.2018T>C (p.Leu673Pro)
n.2149T>C
c.2414T>C (p.Leu805Pro)
n.2594T>C
n.2574T>C
c.2066T>C (p.Leu689Pro)
n.2559T>C
20g.3228979A>TCA408087122SLC4A11c.2051T>A (p.Leu684His)
c.1982T>A (p.Leu661His)
c.1922T>A (p.Leu641His)
c.1937T>A (p.Leu646His)
c.2099T>A (p.Leu700His)
c.2180T>A (p.Leu727His)
c.*199T>A (n.*199T>A)
n.644T>A
c.2420T>A (p.Leu807His)
c.1994T>A (p.Leu665His)
c.2018T>A (p.Leu673His)
n.2149T>A
c.2414T>A (p.Leu805His)
n.2594T>A
n.2574T>A
c.2066T>A (p.Leu689His)
n.2559T>A
20g.3228980G>ACA408087123SLC4A11c.2050C>T (p.Leu684Phe)
c.1981C>T (p.Leu661Phe)
c.1921C>T (p.Leu641Phe)
c.1936C>T (p.Leu646Phe)
c.2098C>T (p.Leu700Phe)
c.2179C>T (p.Leu727Phe)
c.*198C>T (n.*198C>T)
n.643C>T
c.2419C>T (p.Leu807Phe)
c.1993C>T (p.Leu665Phe)
c.2017C>T (p.Leu673Phe)
n.2148C>T
c.2413C>T (p.Leu805Phe)
n.2593C>T
n.2573C>T
c.2065C>T (p.Leu689Phe)
n.2558C>T
20g.3228980G>CCA9741599SLC4A11c.2050C>G (p.Leu684Val)
c.1981C>G (p.Leu661Val)
c.1921C>G (p.Leu641Val)
c.1936C>G (p.Leu646Val)
c.2098C>G (p.Leu700Val)
c.2179C>G (p.Leu727Val)
c.*198C>G (n.*198C>G)
n.643C>G
c.2419C>G (p.Leu807Val)
c.1993C>G (p.Leu665Val)
c.2017C>G (p.Leu673Val)
n.2148C>G
c.2413C>G (p.Leu805Val)
n.2593C>G
n.2573C>G
c.2065C>G (p.Leu689Val)
n.2558C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228980G=CA2346475265SLC4A11c.2050C= (p.Leu684=)
c.1981C= (p.Leu661=)
c.1921C= (p.Leu641=)
c.1936C= (p.Leu646=)
c.2098C= (p.Leu700=)
c.2179C= (p.Leu727=)
c.*198C= (n.*198C=)
n.643C=
c.2419C= (p.Leu807=)
c.1993C= (p.Leu665=)
c.2017C= (p.Leu673=)
n.2148C=
c.2413C= (p.Leu805=)
n.2593C=
n.2573C=
c.2065C= (p.Leu689=)
n.2558C=
20g.3228980G>TCA408087124SLC4A11c.2050C>A (p.Leu684Ile)
c.1981C>A (p.Leu661Ile)
c.1921C>A (p.Leu641Ile)
c.1936C>A (p.Leu646Ile)
c.2098C>A (p.Leu700Ile)
c.2179C>A (p.Leu727Ile)
c.*198C>A (n.*198C>A)
n.643C>A
c.2419C>A (p.Leu807Ile)
c.1993C>A (p.Leu665Ile)
c.2017C>A (p.Leu673Ile)
n.2148C>A
c.2413C>A (p.Leu805Ile)
n.2593C>A
n.2573C>A
c.2065C>A (p.Leu689Ile)
n.2558C>A
20g.3228980_3228982delCA2651691263SLC4A11c.2048_2050del (p.Asp683_Leu684delinsVal)
c.1979_1981del (p.Asp660_Leu661delinsVal)
c.1919_1921del (p.Asp640_Leu641delinsVal)
c.1934_1936del (p.Asp645_Leu646delinsVal)
c.2096_2098del (p.Asp699_Leu700delinsVal)
c.2177_2179del (p.Asp726_Leu727delinsVal)
c.*196_*198del (n.*196_*198del)
n.641_643del
c.2417_2419del (p.Asp806_Leu807delinsVal)
c.1991_1993del (p.Asp664_Leu665delinsVal)
c.2015_2017del (p.Asp672_Leu673delinsVal)
n.2146_2148del
c.2411_2413del (p.Asp804_Leu805delinsVal)
n.2591_2593del
n.2571_2573del
c.2063_2065del (p.Asp688_Leu689delinsVal)
n.2556_2558del
 gnomAD v4
20g.3228981G>ACA509558231SLC4A11c.2049C>T (p.Asp683=)
c.1980C>T (p.Asp660=)
c.1920C>T (p.Asp640=)
c.1935C>T (p.Asp645=)
c.2097C>T (p.Asp699=)
c.2178C>T (p.Asp726=)
c.*197C>T (n.*197C>T)
n.642C>T
c.2418C>T (p.Asp806=)
c.1992C>T (p.Asp664=)
c.2016C>T (p.Asp672=)
n.2147C>T
c.2412C>T (p.Asp804=)
n.2592C>T
n.2572C>T
c.2064C>T (p.Asp688=)
n.2557C>T
 gnomAD v4
20g.3228981G>CCA408087126SLC4A11c.2049C>G (p.Asp683Glu)
c.1980C>G (p.Asp660Glu)
c.1920C>G (p.Asp640Glu)
c.1935C>G (p.Asp645Glu)
c.2097C>G (p.Asp699Glu)
c.2178C>G (p.Asp726Glu)
c.*197C>G (n.*197C>G)
n.642C>G
c.2418C>G (p.Asp806Glu)
c.1992C>G (p.Asp664Glu)
c.2016C>G (p.Asp672Glu)
n.2147C>G
c.2412C>G (p.Asp804Glu)
n.2592C>G
n.2572C>G
c.2064C>G (p.Asp688Glu)
n.2557C>G
20g.3228981G>TCA408087125SLC4A11c.2049C>A (p.Asp683Glu)
c.1980C>A (p.Asp660Glu)
c.1920C>A (p.Asp640Glu)
c.1935C>A (p.Asp645Glu)
c.2097C>A (p.Asp699Glu)
c.2178C>A (p.Asp726Glu)
c.*197C>A (n.*197C>A)
n.642C>A
c.2418C>A (p.Asp806Glu)
c.1992C>A (p.Asp664Glu)
c.2016C>A (p.Asp672Glu)
n.2147C>A
c.2412C>A (p.Asp804Glu)
n.2592C>A
n.2572C>A
c.2064C>A (p.Asp688Glu)
n.2557C>A
20g.3228982T>ACA408087127SLC4A11c.2048A>T (p.Asp683Val)
c.1979A>T (p.Asp660Val)
c.1919A>T (p.Asp640Val)
c.1934A>T (p.Asp645Val)
c.2096A>T (p.Asp699Val)
c.2177A>T (p.Asp726Val)
c.*196A>T (n.*196A>T)
n.641A>T
c.2417A>T (p.Asp806Val)
c.1991A>T (p.Asp664Val)
c.2015A>T (p.Asp672Val)
n.2146A>T
c.2411A>T (p.Asp804Val)
n.2591A>T
n.2571A>T
c.2063A>T (p.Asp688Val)
n.2556A>T
20g.3228982T>CCA408087129SLC4A11c.2048A>G (p.Asp683Gly)
c.1979A>G (p.Asp660Gly)
c.1919A>G (p.Asp640Gly)
c.1934A>G (p.Asp645Gly)
c.2096A>G (p.Asp699Gly)
c.2177A>G (p.Asp726Gly)
c.*196A>G (n.*196A>G)
n.641A>G
c.2417A>G (p.Asp806Gly)
c.1991A>G (p.Asp664Gly)
c.2015A>G (p.Asp672Gly)
n.2146A>G
c.2411A>G (p.Asp804Gly)
n.2591A>G
n.2571A>G
c.2063A>G (p.Asp688Gly)
n.2556A>G
20g.3228982T>GCA408087128SLC4A11c.2048A>C (p.Asp683Ala)
c.1979A>C (p.Asp660Ala)
c.1919A>C (p.Asp640Ala)
c.1934A>C (p.Asp645Ala)
c.2096A>C (p.Asp699Ala)
c.2177A>C (p.Asp726Ala)
c.*196A>C (n.*196A>C)
n.641A>C
c.2417A>C (p.Asp806Ala)
c.1991A>C (p.Asp664Ala)
c.2015A>C (p.Asp672Ala)
n.2146A>C
c.2411A>C (p.Asp804Ala)
n.2591A>C
n.2571A>C
c.2063A>C (p.Asp688Ala)
n.2556A>C
 gnomAD v4
20g.3228983C>ACA408087130SLC4A11c.2047G>T (p.Asp683Tyr)
c.1978G>T (p.Asp660Tyr)
c.1918G>T (p.Asp640Tyr)
c.1933G>T (p.Asp645Tyr)
c.2095G>T (p.Asp699Tyr)
c.2176G>T (p.Asp726Tyr)
c.*195G>T (n.*195G>T)
n.640G>T
c.2416G>T (p.Asp806Tyr)
c.1990G>T (p.Asp664Tyr)
c.2014G>T (p.Asp672Tyr)
n.2145G>T
c.2410G>T (p.Asp804Tyr)
n.2590G>T
n.2570G>T
c.2062G>T (p.Asp688Tyr)
n.2555G>T
20g.3228983C>GCA408087131SLC4A11c.2047G>C (p.Asp683His)
c.1978G>C (p.Asp660His)
c.1918G>C (p.Asp640His)
c.1933G>C (p.Asp645His)
c.2095G>C (p.Asp699His)
c.2176G>C (p.Asp726His)
c.*195G>C (n.*195G>C)
n.640G>C
c.2416G>C (p.Asp806His)
c.1990G>C (p.Asp664His)
c.2014G>C (p.Asp672His)
n.2145G>C
c.2410G>C (p.Asp804His)
n.2590G>C
n.2570G>C
c.2062G>C (p.Asp688His)
n.2555G>C
20g.3228983C>TCA408087132SLC4A11c.2047G>A (p.Asp683Asn)
c.1978G>A (p.Asp660Asn)
c.1918G>A (p.Asp640Asn)
c.1933G>A (p.Asp645Asn)
c.2095G>A (p.Asp699Asn)
c.2176G>A (p.Asp726Asn)
c.*195G>A (n.*195G>A)
n.640G>A
c.2416G>A (p.Asp806Asn)
c.1990G>A (p.Asp664Asn)
c.2014G>A (p.Asp672Asn)
n.2145G>A
c.2410G>A (p.Asp804Asn)
n.2590G>A
n.2570G>A
c.2062G>A (p.Asp688Asn)
n.2555G>A
20g.3228985dupCA2739277021SLC4A11c.2047dup (p.Asp683GlyfsTer?)
c.1978dup (p.Asp660GlyfsTer?)
c.1918dup (p.Asp640GlyfsTer?)
c.1933dup (p.Asp645GlyfsTer?)
c.2095dup (p.Asp699GlyfsTer?)
c.2176dup (p.Asp726GlyfsTer?)
c.*195dup (n.*195dup)
n.640dup
c.2416dup (p.Asp806GlyfsTer?)
c.1990dup (p.Asp664GlyfsTer?)
c.2014dup (p.Asp672GlyfsTer?)
n.2145dup
c.2410dup (p.Asp804GlyfsTer?)
n.2590dup
n.2570dup
c.2062dup (p.Asp688GlyfsTer?)
n.2555dup
 ClinVar
20g.3228984C>ACA408087133SLC4A11c.2046G>T (p.Trp682Cys)
c.1977G>T (p.Trp659Cys)
c.1917G>T (p.Trp639Cys)
c.1932G>T (p.Trp644Cys)
c.2094G>T (p.Trp698Cys)
c.2175G>T (p.Trp725Cys)
c.*194G>T (n.*194G>T)
n.639G>T
c.2415G>T (p.Trp805Cys)
c.1989G>T (p.Trp663Cys)
c.2013G>T (p.Trp671Cys)
n.2144G>T
c.2409G>T (p.Trp803Cys)
n.2589G>T
n.2569G>T
c.2061G>T (p.Trp687Cys)
n.2554G>T
20g.3228984C>GCA408087134SLC4A11c.2046G>C (p.Trp682Cys)
c.1977G>C (p.Trp659Cys)
c.1917G>C (p.Trp639Cys)
c.1932G>C (p.Trp644Cys)
c.2094G>C (p.Trp698Cys)
c.2175G>C (p.Trp725Cys)
c.*194G>C (n.*194G>C)
n.639G>C
c.2415G>C (p.Trp805Cys)
c.1989G>C (p.Trp663Cys)
c.2013G>C (p.Trp671Cys)
n.2144G>C
c.2409G>C (p.Trp803Cys)
n.2589G>C
n.2569G>C
c.2061G>C (p.Trp687Cys)
n.2554G>C
20g.3228984C>TCA408087135SLC4A11c.2046G>A (p.Trp682Ter)
c.1977G>A (p.Trp659Ter)
c.1917G>A (p.Trp639Ter)
c.1932G>A (p.Trp644Ter)
c.2094G>A (p.Trp698Ter)
c.2175G>A (p.Trp725Ter)
c.*194G>A (n.*194G>A)
n.639G>A
c.2415G>A (p.Trp805Ter)
c.1989G>A (p.Trp663Ter)
c.2013G>A (p.Trp671Ter)
n.2144G>A
c.2409G>A (p.Trp803Ter)
n.2589G>A
n.2569G>A
c.2061G>A (p.Trp687Ter)
n.2554G>A
20g.3228984_3228986delCA2651691264SLC4A11c.2044_2046del (p.Trp682del)
c.1975_1977del (p.Trp659del)
c.1915_1917del (p.Trp639del)
c.1930_1932del (p.Trp644del)
c.2092_2094del (p.Trp698del)
c.2173_2175del (p.Trp725del)
c.*192_*194del (n.*192_*194del)
n.637_639del
c.2413_2415del (p.Trp805del)
c.1987_1989del (p.Trp663del)
c.2011_2013del (p.Trp671del)
n.2142_2144del
c.2407_2409del (p.Trp803del)
n.2587_2589del
n.2567_2569del
c.2059_2061del (p.Trp687del)
n.2552_2554del
 gnomAD v4
20g.3228985C>ACA408087136SLC4A11c.2045G>T (p.Trp682Leu)
c.1976G>T (p.Trp659Leu)
c.1916G>T (p.Trp639Leu)
c.1931G>T (p.Trp644Leu)
c.2093G>T (p.Trp698Leu)
c.2174G>T (p.Trp725Leu)
c.*193G>T (n.*193G>T)
n.638G>T
c.2414G>T (p.Trp805Leu)
c.1988G>T (p.Trp663Leu)
c.2012G>T (p.Trp671Leu)
n.2143G>T
c.2408G>T (p.Trp803Leu)
n.2588G>T
n.2568G>T
c.2060G>T (p.Trp687Leu)
n.2553G>T
20g.3228985C>GCA408087137SLC4A11c.2045G>C (p.Trp682Ser)
c.1976G>C (p.Trp659Ser)
c.1916G>C (p.Trp639Ser)
c.1931G>C (p.Trp644Ser)
c.2093G>C (p.Trp698Ser)
c.2174G>C (p.Trp725Ser)
c.*193G>C (n.*193G>C)
n.638G>C
c.2414G>C (p.Trp805Ser)
c.1988G>C (p.Trp663Ser)
c.2012G>C (p.Trp671Ser)
n.2143G>C
c.2408G>C (p.Trp803Ser)
n.2588G>C
n.2568G>C
c.2060G>C (p.Trp687Ser)
n.2553G>C
20g.3228985C>TCA408087138SLC4A11c.2045G>A (p.Trp682Ter)
c.1976G>A (p.Trp659Ter)
c.1916G>A (p.Trp639Ter)
c.1931G>A (p.Trp644Ter)
c.2093G>A (p.Trp698Ter)
c.2174G>A (p.Trp725Ter)
c.*193G>A (n.*193G>A)
n.638G>A
c.2414G>A (p.Trp805Ter)
c.1988G>A (p.Trp663Ter)
c.2012G>A (p.Trp671Ter)
n.2143G>A
c.2408G>A (p.Trp803Ter)
n.2588G>A
n.2568G>A
c.2060G>A (p.Trp687Ter)
n.2553G>A
 ClinVar gnomAD v4
20g.3228986A>CCA408087139SLC4A11c.2044T>G (p.Trp682Gly)
c.1975T>G (p.Trp659Gly)
c.1915T>G (p.Trp639Gly)
c.1930T>G (p.Trp644Gly)
c.2092T>G (p.Trp698Gly)
c.2173T>G (p.Trp725Gly)
c.*192T>G (n.*192T>G)
n.637T>G
c.2413T>G (p.Trp805Gly)
c.1987T>G (p.Trp663Gly)
c.2011T>G (p.Trp671Gly)
n.2142T>G
c.2407T>G (p.Trp803Gly)
n.2587T>G
n.2567T>G
c.2059T>G (p.Trp687Gly)
n.2552T>G
20g.3228986A>GCA408087140SLC4A11c.2044T>C (p.Trp682Arg)
c.1975T>C (p.Trp659Arg)
c.1915T>C (p.Trp639Arg)
c.1930T>C (p.Trp644Arg)
c.2092T>C (p.Trp698Arg)
c.2173T>C (p.Trp725Arg)
c.*192T>C (n.*192T>C)
n.637T>C
c.2413T>C (p.Trp805Arg)
c.1987T>C (p.Trp663Arg)
c.2011T>C (p.Trp671Arg)
n.2142T>C
c.2407T>C (p.Trp803Arg)
n.2587T>C
n.2567T>C
c.2059T>C (p.Trp687Arg)
n.2552T>C
20g.3228986A>TCA408087141SLC4A11c.2044T>A (p.Trp682Arg)
c.1975T>A (p.Trp659Arg)
c.1915T>A (p.Trp639Arg)
c.1930T>A (p.Trp644Arg)
c.2092T>A (p.Trp698Arg)
c.2173T>A (p.Trp725Arg)
c.*192T>A (n.*192T>A)
n.637T>A
c.2413T>A (p.Trp805Arg)
c.1987T>A (p.Trp663Arg)
c.2011T>A (p.Trp671Arg)
n.2142T>A
c.2407T>A (p.Trp803Arg)
n.2587T>A
n.2567T>A
c.2059T>A (p.Trp687Arg)
n.2552T>A
20g.3228987G>ACA509558239SLC4A11c.2043C>T (p.His681=)
c.1974C>T (p.His658=)
c.1914C>T (p.His638=)
c.1929C>T (p.His643=)
c.2091C>T (p.His697=)
c.2172C>T (p.His724=)
c.*191C>T (n.*191C>T)
n.636C>T
c.2412C>T (p.His804=)
c.1986C>T (p.His662=)
c.2010C>T (p.His670=)
n.2141C>T
c.2406C>T (p.His802=)
n.2586C>T
n.2566C>T
c.2058C>T (p.His686=)
n.2551C>T
 ClinVar dbSNP gnomAD v4
20g.3228987G>CCA408087142SLC4A11c.2043C>G (p.His681Gln)
c.1974C>G (p.His658Gln)
c.1914C>G (p.His638Gln)
c.1929C>G (p.His643Gln)
c.2091C>G (p.His697Gln)
c.2172C>G (p.His724Gln)
c.*191C>G (n.*191C>G)
n.636C>G
c.2412C>G (p.His804Gln)
c.1986C>G (p.His662Gln)
c.2010C>G (p.His670Gln)
n.2141C>G
c.2406C>G (p.His802Gln)
n.2586C>G
n.2566C>G
c.2058C>G (p.His686Gln)
n.2551C>G
 gnomAD v4
20g.3228987G>TCA408087143SLC4A11c.2043C>A (p.His681Gln)
c.1974C>A (p.His658Gln)
c.1914C>A (p.His638Gln)
c.1929C>A (p.His643Gln)
c.2091C>A (p.His697Gln)
c.2172C>A (p.His724Gln)
c.*191C>A (n.*191C>A)
n.636C>A
c.2412C>A (p.His804Gln)
c.1986C>A (p.His662Gln)
c.2010C>A (p.His670Gln)
n.2141C>A
c.2406C>A (p.His802Gln)
n.2586C>A
n.2566C>A
c.2058C>A (p.His686Gln)
n.2551C>A
20g.3228988T>ACA408087144SLC4A11c.2042A>T (p.His681Leu)
c.1973A>T (p.His658Leu)
c.1913A>T (p.His638Leu)
c.1928A>T (p.His643Leu)
c.2090A>T (p.His697Leu)
c.2171A>T (p.His724Leu)
c.*190A>T (n.*190A>T)
n.635A>T
c.2411A>T (p.His804Leu)
c.1985A>T (p.His662Leu)
c.2009A>T (p.His670Leu)
n.2140A>T
c.2405A>T (p.His802Leu)
n.2585A>T
n.2565A>T
c.2057A>T (p.His686Leu)
n.2550A>T
 gnomAD v4
20g.3228988T>CCA408087145SLC4A11c.2042A>G (p.His681Arg)
c.1973A>G (p.His658Arg)
c.1913A>G (p.His638Arg)
c.1928A>G (p.His643Arg)
c.2090A>G (p.His697Arg)
c.2171A>G (p.His724Arg)
c.*190A>G (n.*190A>G)
n.635A>G
c.2411A>G (p.His804Arg)
c.1985A>G (p.His662Arg)
c.2009A>G (p.His670Arg)
n.2140A>G
c.2405A>G (p.His802Arg)
n.2585A>G
n.2565A>G
c.2057A>G (p.His686Arg)
n.2550A>G
20g.3228988T>GCA408087146SLC4A11c.2042A>C (p.His681Pro)
c.1973A>C (p.His658Pro)
c.1913A>C (p.His638Pro)
c.1928A>C (p.His643Pro)
c.2090A>C (p.His697Pro)
c.2171A>C (p.His724Pro)
c.*190A>C (n.*190A>C)
n.635A>C
c.2411A>C (p.His804Pro)
c.1985A>C (p.His662Pro)
c.2009A>C (p.His670Pro)
n.2140A>C
c.2405A>C (p.His802Pro)
n.2585A>C
n.2565A>C
c.2057A>C (p.His686Pro)
n.2550A>C
20g.3228989G>ACA9741600SLC4A11c.2041C>T (p.His681Tyr)
c.1972C>T (p.His658Tyr)
c.1912C>T (p.His638Tyr)
c.1927C>T (p.His643Tyr)
c.2089C>T (p.His697Tyr)
c.2170C>T (p.His724Tyr)
c.*189C>T (n.*189C>T)
n.634C>T
c.2410C>T (p.His804Tyr)
c.1984C>T (p.His662Tyr)
c.2008C>T (p.His670Tyr)
n.2139C>T
c.2404C>T (p.His802Tyr)
n.2584C>T
n.2564C>T
c.2056C>T (p.His686Tyr)
n.2549C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3228989G>CCA408087147SLC4A11c.2041C>G (p.His681Asp)
c.1972C>G (p.His658Asp)
c.1912C>G (p.His638Asp)
c.1927C>G (p.His643Asp)
c.2089C>G (p.His697Asp)
c.2170C>G (p.His724Asp)
c.*189C>G (n.*189C>G)
n.634C>G
c.2410C>G (p.His804Asp)
c.1984C>G (p.His662Asp)
c.2008C>G (p.His670Asp)
n.2139C>G
c.2404C>G (p.His802Asp)
n.2584C>G
n.2564C>G
c.2056C>G (p.His686Asp)
n.2549C>G
20g.3228989G=CA2346475266SLC4A11c.2041C= (p.His681=)
c.1972C= (p.His658=)
c.1912C= (p.His638=)
c.1927C= (p.His643=)
c.2089C= (p.His697=)
c.2170C= (p.His724=)
c.*189C= (n.*189C=)
n.634C=
c.2410C= (p.His804=)
c.1984C= (p.His662=)
c.2008C= (p.His670=)
n.2139C=
c.2404C= (p.His802=)
n.2584C=
n.2564C=
c.2056C= (p.His686=)
n.2549C=
20g.3228989G>TCA408087148SLC4A11c.2041C>A (p.His681Asn)
c.1972C>A (p.His658Asn)
c.1912C>A (p.His638Asn)
c.1927C>A (p.His643Asn)
c.2089C>A (p.His697Asn)
c.2170C>A (p.His724Asn)
c.*189C>A (n.*189C>A)
n.634C>A
c.2410C>A (p.His804Asn)
c.1984C>A (p.His662Asn)
c.2008C>A (p.His670Asn)
n.2139C>A
c.2404C>A (p.His802Asn)
n.2584C>A
n.2564C>A
c.2056C>A (p.His686Asn)
n.2549C>A
20g.3228990G>ACA509558241SLC4A11c.2040C>T (p.Tyr680=)
c.1971C>T (p.Tyr657=)
c.1911C>T (p.Tyr637=)
c.1926C>T (p.Tyr642=)
c.2088C>T (p.Tyr696=)
c.2169C>T (p.Tyr723=)
c.*188C>T (n.*188C>T)
n.633C>T
c.2409C>T (p.Tyr803=)
c.1983C>T (p.Tyr661=)
c.2007C>T (p.Tyr669=)
n.2138C>T
c.2403C>T (p.Tyr801=)
n.2583C>T
n.2563C>T
c.2055C>T (p.Tyr685=)
n.2548C>T
20g.3228990G>CCA408087149SLC4A11c.2040C>G (p.Tyr680Ter)
c.1971C>G (p.Tyr657Ter)
c.1911C>G (p.Tyr637Ter)
c.1926C>G (p.Tyr642Ter)
c.2088C>G (p.Tyr696Ter)
c.2169C>G (p.Tyr723Ter)
c.*188C>G (n.*188C>G)
n.633C>G
c.2409C>G (p.Tyr803Ter)
c.1983C>G (p.Tyr661Ter)
c.2007C>G (p.Tyr669Ter)
n.2138C>G
c.2403C>G (p.Tyr801Ter)
n.2583C>G
n.2563C>G
c.2055C>G (p.Tyr685Ter)
n.2548C>G
20g.3228990G>TCA408087150SLC4A11c.2040C>A (p.Tyr680Ter)
c.1971C>A (p.Tyr657Ter)
c.1911C>A (p.Tyr637Ter)
c.1926C>A (p.Tyr642Ter)
c.2088C>A (p.Tyr696Ter)
c.2169C>A (p.Tyr723Ter)
c.*188C>A (n.*188C>A)
n.633C>A
c.2409C>A (p.Tyr803Ter)
c.1983C>A (p.Tyr661Ter)
c.2007C>A (p.Tyr669Ter)
n.2138C>A
c.2403C>A (p.Tyr801Ter)
n.2583C>A
n.2563C>A
c.2055C>A (p.Tyr685Ter)
n.2548C>A
20g.3228990_3229006delCA2651691265SLC4A11c.2024_2040del (p.Val675AlafsTer?)
c.1955_1971del (p.Val652AlafsTer?)
c.1895_1911del (p.Val632AlafsTer?)
c.1910_1926del (p.Val637AlafsTer?)
c.2072_2088del (p.Val691AlafsTer?)
c.2153_2169del (p.Val718AlafsTer?)
c.*172_*188del (n.*172_*188del)
n.617_633del
c.2393_2409del (p.Val798AlafsTer?)
c.1967_1983del (p.Val656AlafsTer?)
c.1991_2007del (p.Val664AlafsTer?)
n.2122_2138del
c.2387_2403del (p.Val796AlafsTer?)
n.2567_2583del
n.2547_2563del
c.2039_2055del (p.Val680AlafsTer?)
n.2532_2548del
 gnomAD v4
20g.3228991T>ACA408087151SLC4A11c.2039A>T (p.Tyr680Phe)
c.1970A>T (p.Tyr657Phe)
c.1910A>T (p.Tyr637Phe)
c.1925A>T (p.Tyr642Phe)
c.2087A>T (p.Tyr696Phe)
c.2168A>T (p.Tyr723Phe)
c.*187A>T (n.*187A>T)
n.632A>T
c.2408A>T (p.Tyr803Phe)
c.1982A>T (p.Tyr661Phe)
c.2006A>T (p.Tyr669Phe)
n.2137A>T
c.2402A>T (p.Tyr801Phe)
n.2582A>T
n.2562A>T
c.2054A>T (p.Tyr685Phe)
n.2547A>T
20g.3228991T>CCA408087152SLC4A11c.2039A>G (p.Tyr680Cys)
c.1970A>G (p.Tyr657Cys)
c.1910A>G (p.Tyr637Cys)
c.1925A>G (p.Tyr642Cys)
c.2087A>G (p.Tyr696Cys)
c.2168A>G (p.Tyr723Cys)
c.*187A>G (n.*187A>G)
n.632A>G
c.2408A>G (p.Tyr803Cys)
c.1982A>G (p.Tyr661Cys)
c.2006A>G (p.Tyr669Cys)
n.2137A>G
c.2402A>G (p.Tyr801Cys)
n.2582A>G
n.2562A>G
c.2054A>G (p.Tyr685Cys)
n.2547A>G
20g.3228991T>GCA408087153SLC4A11c.2039A>C (p.Tyr680Ser)
c.1970A>C (p.Tyr657Ser)
c.1910A>C (p.Tyr637Ser)
c.1925A>C (p.Tyr642Ser)
c.2087A>C (p.Tyr696Ser)
c.2168A>C (p.Tyr723Ser)
c.*187A>C (n.*187A>C)
n.632A>C
c.2408A>C (p.Tyr803Ser)
c.1982A>C (p.Tyr661Ser)
c.2006A>C (p.Tyr669Ser)
n.2137A>C
c.2402A>C (p.Tyr801Ser)
n.2582A>C
n.2562A>C
c.2054A>C (p.Tyr685Ser)
n.2547A>C
20g.3228992A>CCA408087155SLC4A11c.2038T>G (p.Tyr680Asp)
c.1969T>G (p.Tyr657Asp)
c.1909T>G (p.Tyr637Asp)
c.1924T>G (p.Tyr642Asp)
c.2086T>G (p.Tyr696Asp)
c.2167T>G (p.Tyr723Asp)
c.*186T>G (n.*186T>G)
n.631T>G
c.2407T>G (p.Tyr803Asp)
c.1981T>G (p.Tyr661Asp)
c.2005T>G (p.Tyr669Asp)
n.2136T>G
c.2401T>G (p.Tyr801Asp)
n.2581T>G
n.2561T>G
c.2053T>G (p.Tyr685Asp)
n.2546T>G
20g.3228992A>GCA408087156SLC4A11c.2038T>C (p.Tyr680His)
c.1969T>C (p.Tyr657His)
c.1909T>C (p.Tyr637His)
c.1924T>C (p.Tyr642His)
c.2086T>C (p.Tyr696His)
c.2167T>C (p.Tyr723His)
c.*186T>C (n.*186T>C)
n.631T>C
c.2407T>C (p.Tyr803His)
c.1981T>C (p.Tyr661His)
c.2005T>C (p.Tyr669His)
n.2136T>C
c.2401T>C (p.Tyr801His)
n.2581T>C
n.2561T>C
c.2053T>C (p.Tyr685His)
n.2546T>C
 gnomAD v4
20g.3228992A>TCA408087154SLC4A11c.2038T>A (p.Tyr680Asn)
c.1969T>A (p.Tyr657Asn)
c.1909T>A (p.Tyr637Asn)
c.1924T>A (p.Tyr642Asn)
c.2086T>A (p.Tyr696Asn)
c.2167T>A (p.Tyr723Asn)
c.*186T>A (n.*186T>A)
n.631T>A
c.2407T>A (p.Tyr803Asn)
c.1981T>A (p.Tyr661Asn)
c.2005T>A (p.Tyr669Asn)
n.2136T>A
c.2401T>A (p.Tyr801Asn)
n.2581T>A
n.2561T>A
c.2053T>A (p.Tyr685Asn)
n.2546T>A
20g.3228993G>ACA509558242SLC4A11c.2037C>T (p.Ala679=)
c.1968C>T (p.Ala656=)
c.1908C>T (p.Ala636=)
c.1923C>T (p.Ala641=)
c.2085C>T (p.Ala695=)
c.2166C>T (p.Ala722=)
c.*185C>T (n.*185C>T)
n.630C>T
c.2406C>T (p.Ala802=)
c.1980C>T (p.Ala660=)
c.2004C>T (p.Ala668=)
n.2135C>T
c.2400C>T (p.Ala800=)
n.2580C>T
n.2560C>T
c.2052C>T (p.Ala684=)
n.2545C>T
 ClinVar dbSNP
20g.3228993G>CCA509558243SLC4A11c.2037C>G (p.Ala679=)
c.1968C>G (p.Ala656=)
c.1908C>G (p.Ala636=)
c.1923C>G (p.Ala641=)
c.2085C>G (p.Ala695=)
c.2166C>G (p.Ala722=)
c.*185C>G (n.*185C>G)
n.630C>G
c.2406C>G (p.Ala802=)
c.1980C>G (p.Ala660=)
c.2004C>G (p.Ala668=)
n.2135C>G
c.2400C>G (p.Ala800=)
n.2580C>G
n.2560C>G
c.2052C>G (p.Ala684=)
n.2545C>G
20g.3228993G=CA2346475267SLC4A11c.2037C= (p.Ala679=)
c.1968C= (p.Ala656=)
c.1908C= (p.Ala636=)
c.1923C= (p.Ala641=)
c.2085C= (p.Ala695=)
c.2166C= (p.Ala722=)
c.*185C= (n.*185C=)
n.630C=
c.2406C= (p.Ala802=)
c.1980C= (p.Ala660=)
c.2004C= (p.Ala668=)
n.2135C=
c.2400C= (p.Ala800=)
n.2580C=
n.2560C=
c.2052C= (p.Ala684=)
n.2545C=
20g.3228993G>TCA509558245SLC4A11c.2037C>A (p.Ala679=)
c.1968C>A (p.Ala656=)
c.1908C>A (p.Ala636=)
c.1923C>A (p.Ala641=)
c.2085C>A (p.Ala695=)
c.2166C>A (p.Ala722=)
c.*185C>A (n.*185C>A)
n.630C>A
c.2406C>A (p.Ala802=)
c.1980C>A (p.Ala660=)
c.2004C>A (p.Ala668=)
n.2135C>A
c.2400C>A (p.Ala800=)
n.2580C>A
n.2560C>A
c.2052C>A (p.Ala684=)
n.2545C>A
 ClinVar dbSNP
20g.3228994G>ACA408087157SLC4A11c.2036C>T (p.Ala679Val)
c.1967C>T (p.Ala656Val)
c.1907C>T (p.Ala636Val)
c.1922C>T (p.Ala641Val)
c.2084C>T (p.Ala695Val)
c.2165C>T (p.Ala722Val)
c.*184C>T (n.*184C>T)
n.629C>T
c.2405C>T (p.Ala802Val)
c.1979C>T (p.Ala660Val)
c.2003C>T (p.Ala668Val)
n.2134C>T
c.2399C>T (p.Ala800Val)
n.2579C>T
n.2559C>T
c.2051C>T (p.Ala684Val)
n.2544C>T
20g.3228994G>CCA408087158SLC4A11c.2036C>G (p.Ala679Gly)
c.1967C>G (p.Ala656Gly)
c.1907C>G (p.Ala636Gly)
c.1922C>G (p.Ala641Gly)
c.2084C>G (p.Ala695Gly)
c.2165C>G (p.Ala722Gly)
c.*184C>G (n.*184C>G)
n.629C>G
c.2405C>G (p.Ala802Gly)
c.1979C>G (p.Ala660Gly)
c.2003C>G (p.Ala668Gly)
n.2134C>G
c.2399C>G (p.Ala800Gly)
n.2579C>G
n.2559C>G
c.2051C>G (p.Ala684Gly)
n.2544C>G
 gnomAD v4
20g.3228994G>TCA408087159SLC4A11c.2036C>A (p.Ala679Asp)
c.1967C>A (p.Ala656Asp)
c.1907C>A (p.Ala636Asp)
c.1922C>A (p.Ala641Asp)
c.2084C>A (p.Ala695Asp)
c.2165C>A (p.Ala722Asp)
c.*184C>A (n.*184C>A)
n.629C>A
c.2405C>A (p.Ala802Asp)
c.1979C>A (p.Ala660Asp)
c.2003C>A (p.Ala668Asp)
n.2134C>A
c.2399C>A (p.Ala800Asp)
n.2579C>A
n.2559C>A
c.2051C>A (p.Ala684Asp)
n.2544C>A
20g.3228995C>ACA408087160SLC4A11c.2035G>T (p.Ala679Ser)
c.1966G>T (p.Ala656Ser)
c.1906G>T (p.Ala636Ser)
c.1921G>T (p.Ala641Ser)
c.2083G>T (p.Ala695Ser)
c.2164G>T (p.Ala722Ser)
c.*183G>T (n.*183G>T)
n.628G>T
c.2404G>T (p.Ala802Ser)
c.1978G>T (p.Ala660Ser)
c.2002G>T (p.Ala668Ser)
n.2133G>T
c.2398G>T (p.Ala800Ser)
n.2578G>T
n.2558G>T
c.2050G>T (p.Ala684Ser)
n.2543G>T
20g.3228995C>GCA408087161SLC4A11c.2035G>C (p.Ala679Pro)
c.1966G>C (p.Ala656Pro)
c.1906G>C (p.Ala636Pro)
c.1921G>C (p.Ala641Pro)
c.2083G>C (p.Ala695Pro)
c.2164G>C (p.Ala722Pro)
c.*183G>C (n.*183G>C)
n.628G>C
c.2404G>C (p.Ala802Pro)
c.1978G>C (p.Ala660Pro)
c.2002G>C (p.Ala668Pro)
n.2133G>C
c.2398G>C (p.Ala800Pro)
n.2578G>C
n.2558G>C
c.2050G>C (p.Ala684Pro)
n.2543G>C
20g.3228995C>TCA408087162SLC4A11c.2035G>A (p.Ala679Thr)
c.1966G>A (p.Ala656Thr)
c.1906G>A (p.Ala636Thr)
c.1921G>A (p.Ala641Thr)
c.2083G>A (p.Ala695Thr)
c.2164G>A (p.Ala722Thr)
c.*183G>A (n.*183G>A)
n.628G>A
c.2404G>A (p.Ala802Thr)
c.1978G>A (p.Ala660Thr)
c.2002G>A (p.Ala668Thr)
n.2133G>A
c.2398G>A (p.Ala800Thr)
n.2578G>A
n.2558G>A
c.2050G>A (p.Ala684Thr)
n.2543G>A
 gnomAD v4
20g.3228996A>CCA509558248SLC4A11c.2034T>G (p.Thr678=)
c.1965T>G (p.Thr655=)
c.1905T>G (p.Thr635=)
c.1920T>G (p.Thr640=)
c.2082T>G (p.Thr694=)
c.2163T>G (p.Thr721=)
c.*182T>G (n.*182T>G)
n.627T>G
c.2403T>G (p.Thr801=)
c.1977T>G (p.Thr659=)
c.2001T>G (p.Thr667=)
n.2132T>G
c.2397T>G (p.Thr799=)
n.2577T>G
n.2557T>G
c.2049T>G (p.Thr683=)
n.2542T>G
20g.3228996A>GCA509558249SLC4A11c.2034T>C (p.Thr678=)
c.1965T>C (p.Thr655=)
c.1905T>C (p.Thr635=)
c.1920T>C (p.Thr640=)
c.2082T>C (p.Thr694=)
c.2163T>C (p.Thr721=)
c.*182T>C (n.*182T>C)
n.627T>C
c.2403T>C (p.Thr801=)
c.1977T>C (p.Thr659=)
c.2001T>C (p.Thr667=)
n.2132T>C
c.2397T>C (p.Thr799=)
n.2577T>C
n.2557T>C
c.2049T>C (p.Thr683=)
n.2542T>C
20g.3228996A>TCA509558250SLC4A11c.2034T>A (p.Thr678=)
c.1965T>A (p.Thr655=)
c.1905T>A (p.Thr635=)
c.1920T>A (p.Thr640=)
c.2082T>A (p.Thr694=)
c.2163T>A (p.Thr721=)
c.*182T>A (n.*182T>A)
n.627T>A
c.2403T>A (p.Thr801=)
c.1977T>A (p.Thr659=)
c.2001T>A (p.Thr667=)
n.2132T>A
c.2397T>A (p.Thr799=)
n.2577T>A
n.2557T>A
c.2049T>A (p.Thr683=)
n.2542T>A
20g.3228997G>ACA408087163SLC4A11c.2033C>T (p.Thr678Ile)
c.1964C>T (p.Thr655Ile)
c.1904C>T (p.Thr635Ile)
c.1919C>T (p.Thr640Ile)
c.2081C>T (p.Thr694Ile)
c.2162C>T (p.Thr721Ile)
c.*181C>T (n.*181C>T)
n.626C>T
c.2402C>T (p.Thr801Ile)
c.1976C>T (p.Thr659Ile)
c.2000C>T (p.Thr667Ile)
n.2131C>T
c.2396C>T (p.Thr799Ile)
n.2576C>T
n.2556C>T
c.2048C>T (p.Thr683Ile)
n.2541C>T
 dbSNP
20g.3228997G>CCA408087164SLC4A11c.2033C>G (p.Thr678Ser)
c.1964C>G (p.Thr655Ser)
c.1904C>G (p.Thr635Ser)
c.1919C>G (p.Thr640Ser)
c.2081C>G (p.Thr694Ser)
c.2162C>G (p.Thr721Ser)
c.*181C>G (n.*181C>G)
n.626C>G
c.2402C>G (p.Thr801Ser)
c.1976C>G (p.Thr659Ser)
c.2000C>G (p.Thr667Ser)
n.2131C>G
c.2396C>G (p.Thr799Ser)
n.2576C>G
n.2556C>G
c.2048C>G (p.Thr683Ser)
n.2541C>G
20g.3228997G=CA2346475268SLC4A11c.2033C= (p.Thr678=)
c.1964C= (p.Thr655=)
c.1904C= (p.Thr635=)
c.1919C= (p.Thr640=)
c.2081C= (p.Thr694=)
c.2162C= (p.Thr721=)
c.*181C= (n.*181C=)
n.626C=
c.2402C= (p.Thr801=)
c.1976C= (p.Thr659=)
c.2000C= (p.Thr667=)
n.2131C=
c.2396C= (p.Thr799=)
n.2576C=
n.2556C=
c.2048C= (p.Thr683=)
n.2541C=
20g.3228997G>TCA408087165SLC4A11c.2033C>A (p.Thr678Asn)
c.1964C>A (p.Thr655Asn)
c.1904C>A (p.Thr635Asn)
c.1919C>A (p.Thr640Asn)
c.2081C>A (p.Thr694Asn)
c.2162C>A (p.Thr721Asn)
c.*181C>A (n.*181C>A)
n.626C>A
c.2402C>A (p.Thr801Asn)
c.1976C>A (p.Thr659Asn)
c.2000C>A (p.Thr667Asn)
n.2131C>A
c.2396C>A (p.Thr799Asn)
n.2576C>A
n.2556C>A
c.2048C>A (p.Thr683Asn)
n.2541C>A
20g.3228998T>ACA9741601SLC4A11c.2032A>T (p.Thr678Ser)
c.1963A>T (p.Thr655Ser)
c.1903A>T (p.Thr635Ser)
c.1918A>T (p.Thr640Ser)
c.2080A>T (p.Thr694Ser)
c.2161A>T (p.Thr721Ser)
c.*180A>T (n.*180A>T)
n.625A>T
c.2401A>T (p.Thr801Ser)
c.1975A>T (p.Thr659Ser)
c.1999A>T (p.Thr667Ser)
n.2130A>T
c.2395A>T (p.Thr799Ser)
n.2575A>T
n.2555A>T
c.2047A>T (p.Thr683Ser)
n.2540A>T
 dbSNP ExAC gnomAD v2
20g.3228998T>CCA408087166SLC4A11c.2032A>G (p.Thr678Ala)
c.1963A>G (p.Thr655Ala)
c.1903A>G (p.Thr635Ala)
c.1918A>G (p.Thr640Ala)
c.2080A>G (p.Thr694Ala)
c.2161A>G (p.Thr721Ala)
c.*180A>G (n.*180A>G)
n.625A>G
c.2401A>G (p.Thr801Ala)
c.1975A>G (p.Thr659Ala)
c.1999A>G (p.Thr667Ala)
n.2130A>G
c.2395A>G (p.Thr799Ala)
n.2575A>G
n.2555A>G
c.2047A>G (p.Thr683Ala)
n.2540A>G
 gnomAD v4
20g.3228998T>GCA408087167SLC4A11c.2032A>C (p.Thr678Pro)
c.1963A>C (p.Thr655Pro)
c.1903A>C (p.Thr635Pro)
c.1918A>C (p.Thr640Pro)
c.2080A>C (p.Thr694Pro)
c.2161A>C (p.Thr721Pro)
c.*180A>C (n.*180A>C)
n.625A>C
c.2401A>C (p.Thr801Pro)
c.1975A>C (p.Thr659Pro)
c.1999A>C (p.Thr667Pro)
n.2130A>C
c.2395A>C (p.Thr799Pro)
n.2575A>C
n.2555A>C
c.2047A>C (p.Thr683Pro)
n.2540A>C
20g.3228998T=CA2346475269SLC4A11c.2032A= (p.Thr678=)
c.1963A= (p.Thr655=)
c.1903A= (p.Thr635=)
c.1918A= (p.Thr640=)
c.2080A= (p.Thr694=)
c.2161A= (p.Thr721=)
c.*180A= (n.*180A=)
n.625A=
c.2401A= (p.Thr801=)
c.1975A= (p.Thr659=)
c.1999A= (p.Thr667=)
n.2130A=
c.2395A= (p.Thr799=)
n.2575A=
n.2555A=
c.2047A= (p.Thr683=)
n.2540A=
20g.3228999G>ACA509558252SLC4A11c.2031C>T (p.Gly677=)
c.1962C>T (p.Gly654=)
c.1902C>T (p.Gly634=)
c.1917C>T (p.Gly639=)
c.2079C>T (p.Gly693=)
c.2160C>T (p.Gly720=)
c.*179C>T (n.*179C>T)
n.624C>T
c.2400C>T (p.Gly800=)
c.1974C>T (p.Gly658=)
c.1998C>T (p.Gly666=)
n.2129C>T
c.2394C>T (p.Gly798=)
n.2574C>T
n.2554C>T
c.2046C>T (p.Gly682=)
n.2539C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3228999G>CCA509558254SLC4A11c.2031C>G (p.Gly677=)
c.1962C>G (p.Gly654=)
c.1902C>G (p.Gly634=)
c.1917C>G (p.Gly639=)
c.2079C>G (p.Gly693=)
c.2160C>G (p.Gly720=)
c.*179C>G (n.*179C>G)
n.624C>G
c.2400C>G (p.Gly800=)
c.1974C>G (p.Gly658=)
c.1998C>G (p.Gly666=)
n.2129C>G
c.2394C>G (p.Gly798=)
n.2574C>G
n.2554C>G
c.2046C>G (p.Gly682=)
n.2539C>G
20g.3228999G=CA2346475270SLC4A11c.2031C= (p.Gly677=)
c.1962C= (p.Gly654=)
c.1902C= (p.Gly634=)
c.1917C= (p.Gly639=)
c.2079C= (p.Gly693=)
c.2160C= (p.Gly720=)
c.*179C= (n.*179C=)
n.624C=
c.2400C= (p.Gly800=)
c.1974C= (p.Gly658=)
c.1998C= (p.Gly666=)
n.2129C=
c.2394C= (p.Gly798=)
n.2574C=
n.2554C=
c.2046C= (p.Gly682=)
n.2539C=
20g.3228999G>TCA509558256SLC4A11c.2031C>A (p.Gly677=)
c.1962C>A (p.Gly654=)
c.1902C>A (p.Gly634=)
c.1917C>A (p.Gly639=)
c.2079C>A (p.Gly693=)
c.2160C>A (p.Gly720=)
c.*179C>A (n.*179C>A)
n.624C>A
c.2400C>A (p.Gly800=)
c.1974C>A (p.Gly658=)
c.1998C>A (p.Gly666=)
n.2129C>A
c.2394C>A (p.Gly798=)
n.2574C>A
n.2554C>A
c.2046C>A (p.Gly682=)
n.2539C>A
20g.3229000C>ACA408087168SLC4A11c.2030G>T (p.Gly677Val)
c.1961G>T (p.Gly654Val)
c.1901G>T (p.Gly634Val)
c.1916G>T (p.Gly639Val)
c.2078G>T (p.Gly693Val)
c.2159G>T (p.Gly720Val)
c.*178G>T (n.*178G>T)
n.623G>T
c.2399G>T (p.Gly800Val)
c.1973G>T (p.Gly658Val)
c.1997G>T (p.Gly666Val)
n.2128G>T
c.2393G>T (p.Gly798Val)
n.2573G>T
n.2553G>T
c.2045G>T (p.Gly682Val)
n.2538G>T
20g.3229000C=CA2346475271SLC4A11c.2030G= (p.Gly677=)
c.1961G= (p.Gly654=)
c.1901G= (p.Gly634=)
c.1916G= (p.Gly639=)
c.2078G= (p.Gly693=)
c.2159G= (p.Gly720=)
c.*178G= (n.*178G=)
n.623G=
c.2399G= (p.Gly800=)
c.1973G= (p.Gly658=)
c.1997G= (p.Gly666=)
n.2128G=
c.2393G= (p.Gly798=)
n.2573G=
n.2553G=
c.2045G= (p.Gly682=)
n.2538G=
20g.3229000C>GCA408087169SLC4A11c.2030G>C (p.Gly677Ala)
c.1961G>C (p.Gly654Ala)
c.1901G>C (p.Gly634Ala)
c.1916G>C (p.Gly639Ala)
c.2078G>C (p.Gly693Ala)
c.2159G>C (p.Gly720Ala)
c.*178G>C (n.*178G>C)
n.623G>C
c.2399G>C (p.Gly800Ala)
c.1973G>C (p.Gly658Ala)
c.1997G>C (p.Gly666Ala)
n.2128G>C
c.2393G>C (p.Gly798Ala)
n.2573G>C
n.2553G>C
c.2045G>C (p.Gly682Ala)
n.2538G>C
20g.3229000C>TCA9741602SLC4A11c.2030G>A (p.Gly677Asp)
c.1961G>A (p.Gly654Asp)
c.1901G>A (p.Gly634Asp)
c.1916G>A (p.Gly639Asp)
c.2078G>A (p.Gly693Asp)
c.2159G>A (p.Gly720Asp)
c.*178G>A (n.*178G>A)
n.623G>A
c.2399G>A (p.Gly800Asp)
c.1973G>A (p.Gly658Asp)
c.1997G>A (p.Gly666Asp)
n.2128G>A
c.2393G>A (p.Gly798Asp)
n.2573G>A
n.2553G>A
c.2045G>A (p.Gly682Asp)
n.2538G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3229001C>ACA408087170SLC4A11c.2029G>T (p.Gly677Cys)
c.1960G>T (p.Gly654Cys)
c.1900G>T (p.Gly634Cys)
c.1915G>T (p.Gly639Cys)
c.2077G>T (p.Gly693Cys)
c.2158G>T (p.Gly720Cys)
c.*177G>T (n.*177G>T)
n.622G>T
c.2398G>T (p.Gly800Cys)
c.1972G>T (p.Gly658Cys)
c.1996G>T (p.Gly666Cys)
n.2127G>T
c.2392G>T (p.Gly798Cys)
n.2572G>T
n.2552G>T
c.2044G>T (p.Gly682Cys)
n.2537G>T
20g.3229001C>GCA408087171SLC4A11c.2029G>C (p.Gly677Arg)
c.1960G>C (p.Gly654Arg)
c.1900G>C (p.Gly634Arg)
c.1915G>C (p.Gly639Arg)
c.2077G>C (p.Gly693Arg)
c.2158G>C (p.Gly720Arg)
c.*177G>C (n.*177G>C)
n.622G>C
c.2398G>C (p.Gly800Arg)
c.1972G>C (p.Gly658Arg)
c.1996G>C (p.Gly666Arg)
n.2127G>C
c.2392G>C (p.Gly798Arg)
n.2572G>C
n.2552G>C
c.2044G>C (p.Gly682Arg)
n.2537G>C
20g.3229001C>TCA408087172SLC4A11c.2029G>A (p.Gly677Ser)
c.1960G>A (p.Gly654Ser)
c.1900G>A (p.Gly634Ser)
c.1915G>A (p.Gly639Ser)
c.2077G>A (p.Gly693Ser)
c.2158G>A (p.Gly720Ser)
c.*177G>A (n.*177G>A)
n.622G>A
c.2398G>A (p.Gly800Ser)
c.1972G>A (p.Gly658Ser)
c.1996G>A (p.Gly666Ser)
n.2127G>A
c.2392G>A (p.Gly798Ser)
n.2572G>A
n.2552G>A
c.2044G>A (p.Gly682Ser)
n.2537G>A
20g.3229002C>ACA408087173SLC4A11c.2028G>T (p.Lys676Asn)
c.1959G>T (p.Lys653Asn)
c.1899G>T (p.Lys633Asn)
c.1914G>T (p.Lys638Asn)
c.2076G>T (p.Lys692Asn)
c.2157G>T (p.Lys719Asn)
c.*176G>T (n.*176G>T)
n.621G>T
c.2397G>T (p.Lys799Asn)
c.1971G>T (p.Lys657Asn)
c.1995G>T (p.Lys665Asn)
n.2126G>T
c.2391G>T (p.Lys797Asn)
n.2571G>T
n.2551G>T
c.2043G>T (p.Lys681Asn)
n.2536G>T
20g.3229002C>GCA408087174SLC4A11c.2028G>C (p.Lys676Asn)
c.1959G>C (p.Lys653Asn)
c.1899G>C (p.Lys633Asn)
c.1914G>C (p.Lys638Asn)
c.2076G>C (p.Lys692Asn)
c.2157G>C (p.Lys719Asn)
c.*176G>C (n.*176G>C)
n.621G>C
c.2397G>C (p.Lys799Asn)
c.1971G>C (p.Lys657Asn)
c.1995G>C (p.Lys665Asn)
n.2126G>C
c.2391G>C (p.Lys797Asn)
n.2571G>C
n.2551G>C
c.2043G>C (p.Lys681Asn)
n.2536G>C
20g.3229002C>TCA509558265SLC4A11c.2028G>A (p.Lys676=)
c.1959G>A (p.Lys653=)
c.1899G>A (p.Lys633=)
c.1914G>A (p.Lys638=)
c.2076G>A (p.Lys692=)
c.2157G>A (p.Lys719=)
c.*176G>A (n.*176G>A)
n.621G>A
c.2397G>A (p.Lys799=)
c.1971G>A (p.Lys657=)
c.1995G>A (p.Lys665=)
n.2126G>A
c.2391G>A (p.Lys797=)
n.2571G>A
n.2551G>A
c.2043G>A (p.Lys681=)
n.2536G>A
20g.3229003T>ACA408087177SLC4A11c.2027A>T (p.Lys676Met)
c.1958A>T (p.Lys653Met)
c.1898A>T (p.Lys633Met)
c.1913A>T (p.Lys638Met)
c.2075A>T (p.Lys692Met)
c.2156A>T (p.Lys719Met)
c.*175A>T (n.*175A>T)
n.620A>T
c.2396A>T (p.Lys799Met)
c.1970A>T (p.Lys657Met)
c.1994A>T (p.Lys665Met)
n.2125A>T
c.2390A>T (p.Lys797Met)
n.2570A>T
n.2550A>T
c.2042A>T (p.Lys681Met)
n.2535A>T
20g.3229003T>CCA408087176SLC4A11c.2027A>G (p.Lys676Arg)
c.1958A>G (p.Lys653Arg)
c.1898A>G (p.Lys633Arg)
c.1913A>G (p.Lys638Arg)
c.2075A>G (p.Lys692Arg)
c.2156A>G (p.Lys719Arg)
c.*175A>G (n.*175A>G)
n.620A>G
c.2396A>G (p.Lys799Arg)
c.1970A>G (p.Lys657Arg)
c.1994A>G (p.Lys665Arg)
n.2125A>G
c.2390A>G (p.Lys797Arg)
n.2570A>G
n.2550A>G
c.2042A>G (p.Lys681Arg)
n.2535A>G
 dbSNP
20g.3229003T>GCA408087175SLC4A11c.2027A>C (p.Lys676Thr)
c.1958A>C (p.Lys653Thr)
c.1898A>C (p.Lys633Thr)
c.1913A>C (p.Lys638Thr)
c.2075A>C (p.Lys692Thr)
c.2156A>C (p.Lys719Thr)
c.*175A>C (n.*175A>C)
n.620A>C
c.2396A>C (p.Lys799Thr)
c.1970A>C (p.Lys657Thr)
c.1994A>C (p.Lys665Thr)
n.2125A>C
c.2390A>C (p.Lys797Thr)
n.2570A>C
n.2550A>C
c.2042A>C (p.Lys681Thr)
n.2535A>C
20g.3229003T=CA2346475272SLC4A11c.2027A= (p.Lys676=)
c.1958A= (p.Lys653=)
c.1898A= (p.Lys633=)
c.1913A= (p.Lys638=)
c.2075A= (p.Lys692=)
c.2156A= (p.Lys719=)
c.*175A= (n.*175A=)
n.620A=
c.2396A= (p.Lys799=)
c.1970A= (p.Lys657=)
c.1994A= (p.Lys665=)
n.2125A=
c.2390A= (p.Lys797=)
n.2570A=
n.2550A=
c.2042A= (p.Lys681=)
n.2535A=
20g.3229004T>ACA408087178SLC4A11c.2026A>T (p.Lys676Ter)
c.1957A>T (p.Lys653Ter)
c.1897A>T (p.Lys633Ter)
c.1912A>T (p.Lys638Ter)
c.2074A>T (p.Lys692Ter)
c.2155A>T (p.Lys719Ter)
c.*174A>T (n.*174A>T)
n.619A>T
c.2395A>T (p.Lys799Ter)
c.1969A>T (p.Lys657Ter)
c.1993A>T (p.Lys665Ter)
n.2124A>T
c.2389A>T (p.Lys797Ter)
n.2569A>T
n.2549A>T
c.2041A>T (p.Lys681Ter)
n.2534A>T
20g.3229004T>CCA408087179SLC4A11c.2026A>G (p.Lys676Glu)
c.1957A>G (p.Lys653Glu)
c.1897A>G (p.Lys633Glu)
c.1912A>G (p.Lys638Glu)
c.2074A>G (p.Lys692Glu)
c.2155A>G (p.Lys719Glu)
c.*174A>G (n.*174A>G)
n.619A>G
c.2395A>G (p.Lys799Glu)
c.1969A>G (p.Lys657Glu)
c.1993A>G (p.Lys665Glu)
n.2124A>G
c.2389A>G (p.Lys797Glu)
n.2569A>G
n.2549A>G
c.2041A>G (p.Lys681Glu)
n.2534A>G
 gnomAD v4
20g.3229004T>GCA408087180SLC4A11c.2026A>C (p.Lys676Gln)
c.1957A>C (p.Lys653Gln)
c.1897A>C (p.Lys633Gln)
c.1912A>C (p.Lys638Gln)
c.2074A>C (p.Lys692Gln)
c.2155A>C (p.Lys719Gln)
c.*174A>C (n.*174A>C)
n.619A>C
c.2395A>C (p.Lys799Gln)
c.1969A>C (p.Lys657Gln)
c.1993A>C (p.Lys665Gln)
n.2124A>C
c.2389A>C (p.Lys797Gln)
n.2569A>C
n.2549A>C
c.2041A>C (p.Lys681Gln)
n.2534A>C
20g.3229004_3229008dupCA2651691266SLC4A11c.2022_2026dup (p.Lys676ArgfsTer2)
c.1953_1957dup (p.Lys653ArgfsTer2)
c.1893_1897dup (p.Lys633ArgfsTer2)
c.1908_1912dup (p.Lys638ArgfsTer2)
c.2070_2074dup (p.Lys692ArgfsTer2)
c.2151_2155dup (p.Lys719ArgfsTer2)
c.*170_*174dup (n.*170_*174dup)
n.615_619dup
c.2391_2395dup (p.Lys799ArgfsTer2)
c.1965_1969dup (p.Lys657ArgfsTer2)
c.1989_1993dup (p.Lys665ArgfsTer2)
n.2120_2124dup
c.2385_2389dup (p.Lys797ArgfsTer2)
n.2565_2569dup
n.2545_2549dup
c.2037_2041dup (p.Lys681ArgfsTer2)
n.2530_2534dup
 dbSNP gnomAD v4
20g.3229005C>ACA509558268SLC4A11c.2025G>T (p.Val675=)
c.1956G>T (p.Val652=)
c.1896G>T (p.Val632=)
c.1911G>T (p.Val637=)
c.2073G>T (p.Val691=)
c.2154G>T (p.Val718=)
c.*173G>T (n.*173G>T)
n.618G>T
c.2394G>T (p.Val798=)
c.1968G>T (p.Val656=)
c.1992G>T (p.Val664=)
n.2123G>T
c.2388G>T (p.Val796=)
n.2568G>T
n.2548G>T
c.2040G>T (p.Val680=)
n.2533G>T
20g.3229005C>GCA509558270SLC4A11c.2025G>C (p.Val675=)
c.1956G>C (p.Val652=)
c.1896G>C (p.Val632=)
c.1911G>C (p.Val637=)
c.2073G>C (p.Val691=)
c.2154G>C (p.Val718=)
c.*173G>C (n.*173G>C)
n.618G>C
c.2394G>C (p.Val798=)
c.1968G>C (p.Val656=)
c.1992G>C (p.Val664=)
n.2123G>C
c.2388G>C (p.Val796=)
n.2568G>C
n.2548G>C
c.2040G>C (p.Val680=)
n.2533G>C
20g.3229005C>TCA509558271SLC4A11c.2025G>A (p.Val675=)
c.1956G>A (p.Val652=)
c.1896G>A (p.Val632=)
c.1911G>A (p.Val637=)
c.2073G>A (p.Val691=)
c.2154G>A (p.Val718=)
c.*173G>A (n.*173G>A)
n.618G>A
c.2394G>A (p.Val798=)
c.1968G>A (p.Val656=)
c.1992G>A (p.Val664=)
n.2123G>A
c.2388G>A (p.Val796=)
n.2568G>A
n.2548G>A
c.2040G>A (p.Val680=)
n.2533G>A
20g.3229006A=CA2346475273SLC4A11c.2024T= (p.Val675=)
c.1955T= (p.Val652=)
c.1895T= (p.Val632=)
c.1910T= (p.Val637=)
c.2072T= (p.Val691=)
c.2153T= (p.Val718=)
c.*172T= (n.*172T=)
n.617T=
c.2393T= (p.Val798=)
c.1967T= (p.Val656=)
c.1991T= (p.Val664=)
n.2122T=
c.2387T= (p.Val796=)
n.2567T=
n.2547T=
c.2039T= (p.Val680=)
n.2532T=
20g.3229006A>CCA9741603SLC4A11c.2024T>G (p.Val675Gly)
c.1955T>G (p.Val652Gly)
c.1895T>G (p.Val632Gly)
c.1910T>G (p.Val637Gly)
c.2072T>G (p.Val691Gly)
c.2153T>G (p.Val718Gly)
c.*172T>G (n.*172T>G)
n.617T>G
c.2393T>G (p.Val798Gly)
c.1967T>G (p.Val656Gly)
c.1991T>G (p.Val664Gly)
n.2122T>G
c.2387T>G (p.Val796Gly)
n.2567T>G
n.2547T>G
c.2039T>G (p.Val680Gly)
n.2532T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3229006A>GCA408087181SLC4A11c.2024T>C (p.Val675Ala)
c.1955T>C (p.Val652Ala)
c.1895T>C (p.Val632Ala)
c.1910T>C (p.Val637Ala)
c.2072T>C (p.Val691Ala)
c.2153T>C (p.Val718Ala)
c.*172T>C (n.*172T>C)
n.617T>C
c.2393T>C (p.Val798Ala)
c.1967T>C (p.Val656Ala)
c.1991T>C (p.Val664Ala)
n.2122T>C
c.2387T>C (p.Val796Ala)
n.2567T>C
n.2547T>C
c.2039T>C (p.Val680Ala)
n.2532T>C
20g.3229006A>TCA408087182SLC4A11c.2024T>A (p.Val675Glu)
c.1955T>A (p.Val652Glu)
c.1895T>A (p.Val632Glu)
c.1910T>A (p.Val637Glu)
c.2072T>A (p.Val691Glu)
c.2153T>A (p.Val718Glu)
c.*172T>A (n.*172T>A)
n.617T>A
c.2393T>A (p.Val798Glu)
c.1967T>A (p.Val656Glu)
c.1991T>A (p.Val664Glu)
n.2122T>A
c.2387T>A (p.Val796Glu)
n.2567T>A
n.2547T>A
c.2039T>A (p.Val680Glu)
n.2532T>A
20g.3229007C>ACA408087183SLC4A11c.2023G>T (p.Val675Leu)
c.1954G>T (p.Val652Leu)
c.1894G>T (p.Val632Leu)
c.1909G>T (p.Val637Leu)
c.2071G>T (p.Val691Leu)
c.2152G>T (p.Val718Leu)
c.*171G>T (n.*171G>T)
n.616G>T
c.2392G>T (p.Val798Leu)
c.1966G>T (p.Val656Leu)
c.1990G>T (p.Val664Leu)
n.2121G>T
c.2386G>T (p.Val796Leu)
n.2566G>T
n.2546G>T
c.2038G>T (p.Val680Leu)
n.2531G>T
20g.3229007C=CA2346475274SLC4A11c.2023G= (p.Val675=)
c.1954G= (p.Val652=)
c.1894G= (p.Val632=)
c.1909G= (p.Val637=)
c.2071G= (p.Val691=)
c.2152G= (p.Val718=)
c.*171G= (n.*171G=)
n.616G=
c.2392G= (p.Val798=)
c.1966G= (p.Val656=)
c.1990G= (p.Val664=)
n.2121G=
c.2386G= (p.Val796=)
n.2566G=
n.2546G=
c.2038G= (p.Val680=)
n.2531G=
20g.3229007C>GCA408087185SLC4A11c.2023G>C (p.Val675Leu)
c.1954G>C (p.Val652Leu)
c.1894G>C (p.Val632Leu)
c.1909G>C (p.Val637Leu)
c.2071G>C (p.Val691Leu)
c.2152G>C (p.Val718Leu)
c.*171G>C (n.*171G>C)
n.616G>C
c.2392G>C (p.Val798Leu)
c.1966G>C (p.Val656Leu)
c.1990G>C (p.Val664Leu)
n.2121G>C
c.2386G>C (p.Val796Leu)
n.2566G>C
n.2546G>C
c.2038G>C (p.Val680Leu)
n.2531G>C
20g.3229007C>TCA408087184SLC4A11c.2023G>A (p.Val675Met)
c.1954G>A (p.Val652Met)
c.1894G>A (p.Val632Met)
c.1909G>A (p.Val637Met)
c.2071G>A (p.Val691Met)
c.2152G>A (p.Val718Met)
c.*171G>A (n.*171G>A)
n.616G>A
c.2392G>A (p.Val798Met)
c.1966G>A (p.Val656Met)
c.1990G>A (p.Val664Met)
n.2121G>A
c.2386G>A (p.Val796Met)
n.2566G>A
n.2546G>A
c.2038G>A (p.Val680Met)
n.2531G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3229008C>ACA509558277SLC4A11c.2022G>T (p.Leu674=)
c.1953G>T (p.Leu651=)
c.1893G>T (p.Leu631=)
c.1908G>T (p.Leu636=)
c.2070G>T (p.Leu690=)
c.2151G>T (p.Leu717=)
c.*170G>T (n.*170G>T)
n.615G>T
c.2391G>T (p.Leu797=)
c.1965G>T (p.Leu655=)
c.1989G>T (p.Leu663=)
n.2120G>T
c.2385G>T (p.Leu795=)
n.2565G>T
n.2545G>T
c.2037G>T (p.Leu679=)
n.2530G>T
20g.3229008C>GCA509558275SLC4A11c.2022G>C (p.Leu674=)
c.1953G>C (p.Leu651=)
c.1893G>C (p.Leu631=)
c.1908G>C (p.Leu636=)
c.2070G>C (p.Leu690=)
c.2151G>C (p.Leu717=)
c.*170G>C (n.*170G>C)
n.615G>C
c.2391G>C (p.Leu797=)
c.1965G>C (p.Leu655=)
c.1989G>C (p.Leu663=)
n.2120G>C
c.2385G>C (p.Leu795=)
n.2565G>C
n.2545G>C
c.2037G>C (p.Leu679=)
n.2530G>C
20g.3229008C>TCA509558273SLC4A11c.2022G>A (p.Leu674=)
c.1953G>A (p.Leu651=)
c.1893G>A (p.Leu631=)
c.1908G>A (p.Leu636=)
c.2070G>A (p.Leu690=)
c.2151G>A (p.Leu717=)
c.*170G>A (n.*170G>A)
n.615G>A
c.2391G>A (p.Leu797=)
c.1965G>A (p.Leu655=)
c.1989G>A (p.Leu663=)
n.2120G>A
c.2385G>A (p.Leu795=)
n.2565G>A
n.2545G>A
c.2037G>A (p.Leu679=)
n.2530G>A
 ClinVar dbSNP gnomAD v4
20g.3229009A>CCA408087186SLC4A11c.2021T>G (p.Leu674Arg)
c.1952T>G (p.Leu651Arg)
c.1892T>G (p.Leu631Arg)
c.1907T>G (p.Leu636Arg)
c.2069T>G (p.Leu690Arg)
c.2150T>G (p.Leu717Arg)
c.*169T>G (n.*169T>G)
n.614T>G
c.2390T>G (p.Leu797Arg)
c.1964T>G (p.Leu655Arg)
c.1988T>G (p.Leu663Arg)
n.2119T>G
c.2384T>G (p.Leu795Arg)
n.2564T>G
n.2544T>G
c.2036T>G (p.Leu679Arg)
n.2529T>G
20g.3229009A>GCA408087188SLC4A11c.2021T>C (p.Leu674Pro)
c.1952T>C (p.Leu651Pro)
c.1892T>C (p.Leu631Pro)
c.1907T>C (p.Leu636Pro)
c.2069T>C (p.Leu690Pro)
c.2150T>C (p.Leu717Pro)
c.*169T>C (n.*169T>C)
n.614T>C
c.2390T>C (p.Leu797Pro)
c.1964T>C (p.Leu655Pro)
c.1988T>C (p.Leu663Pro)
n.2119T>C
c.2384T>C (p.Leu795Pro)
n.2564T>C
n.2544T>C
c.2036T>C (p.Leu679Pro)
n.2529T>C
20g.3229009A>TCA408087187SLC4A11c.2021T>A (p.Leu674Gln)
c.1952T>A (p.Leu651Gln)
c.1892T>A (p.Leu631Gln)
c.1907T>A (p.Leu636Gln)
c.2069T>A (p.Leu690Gln)
c.2150T>A (p.Leu717Gln)
c.*169T>A (n.*169T>A)
n.614T>A
c.2390T>A (p.Leu797Gln)
c.1964T>A (p.Leu655Gln)
c.1988T>A (p.Leu663Gln)
n.2119T>A
c.2384T>A (p.Leu795Gln)
n.2564T>A
n.2544T>A
c.2036T>A (p.Leu679Gln)
n.2529T>A
20g.3229010G>ACA509558282SLC4A11c.2020C>T (p.Leu674=)
c.1951C>T (p.Leu651=)
c.1891C>T (p.Leu631=)
c.1906C>T (p.Leu636=)
c.2068C>T (p.Leu690=)
c.2149C>T (p.Leu717=)
c.*168C>T (n.*168C>T)
n.613C>T
c.2389C>T (p.Leu797=)
c.1963C>T (p.Leu655=)
c.1987C>T (p.Leu663=)
n.2118C>T
c.2383C>T (p.Leu795=)
n.2563C>T
n.2543C>T
c.2035C>T (p.Leu679=)
n.2528C>T
20g.3229010G>CCA408087189SLC4A11c.2020C>G (p.Leu674Val)
c.1951C>G (p.Leu651Val)
c.1891C>G (p.Leu631Val)
c.1906C>G (p.Leu636Val)
c.2068C>G (p.Leu690Val)
c.2149C>G (p.Leu717Val)
c.*168C>G (n.*168C>G)
n.613C>G
c.2389C>G (p.Leu797Val)
c.1963C>G (p.Leu655Val)
c.1987C>G (p.Leu663Val)
n.2118C>G
c.2383C>G (p.Leu795Val)
n.2563C>G
n.2543C>G
c.2035C>G (p.Leu679Val)
n.2528C>G
20g.3229010G=CA2346475275SLC4A11c.2020C= (p.Leu674=)
c.1951C= (p.Leu651=)
c.1891C= (p.Leu631=)
c.1906C= (p.Leu636=)
c.2068C= (p.Leu690=)
c.2149C= (p.Leu717=)
c.*168C= (n.*168C=)
n.613C=
c.2389C= (p.Leu797=)
c.1963C= (p.Leu655=)
c.1987C= (p.Leu663=)
n.2118C=
c.2383C= (p.Leu795=)
n.2563C=
n.2543C=
c.2035C= (p.Leu679=)
n.2528C=
20g.3229010G>TCA408087190SLC4A11c.2020C>A (p.Leu674Met)
c.1951C>A (p.Leu651Met)
c.1891C>A (p.Leu631Met)
c.1906C>A (p.Leu636Met)
c.2068C>A (p.Leu690Met)
c.2149C>A (p.Leu717Met)
c.*168C>A (n.*168C>A)
n.613C>A
c.2389C>A (p.Leu797Met)
c.1963C>A (p.Leu655Met)
c.1987C>A (p.Leu663Met)
n.2118C>A
c.2383C>A (p.Leu795Met)
n.2563C>A
n.2543C>A
c.2035C>A (p.Leu679Met)
n.2528C>A
 dbSNP
20g.3229011C>ACA408087191SLC4A11c.2019G>T (p.Arg673Ser)
c.1950G>T (p.Arg650Ser)
c.1890G>T (p.Arg630Ser)
c.1905G>T (p.Arg635Ser)
c.2067G>T (p.Arg689Ser)
c.2148G>T (p.Arg716Ser)
c.*167G>T (n.*167G>T)
n.612G>T
c.2388G>T (p.Arg796Ser)
c.1962G>T (p.Arg654Ser)
c.1986G>T (p.Arg662Ser)
n.2117G>T
c.2382G>T (p.Arg794Ser)
n.2562G>T
n.2542G>T
c.2034G>T (p.Arg678Ser)
n.2527G>T
20g.3229011C>GCA408087192SLC4A11c.2019G>C (p.Arg673Ser)
c.1950G>C (p.Arg650Ser)
c.1890G>C (p.Arg630Ser)
c.1905G>C (p.Arg635Ser)
c.2067G>C (p.Arg689Ser)
c.2148G>C (p.Arg716Ser)
c.*167G>C (n.*167G>C)
n.612G>C
c.2388G>C (p.Arg796Ser)
c.1962G>C (p.Arg654Ser)
c.1986G>C (p.Arg662Ser)
n.2117G>C
c.2382G>C (p.Arg794Ser)
n.2562G>C
n.2542G>C
c.2034G>C (p.Arg678Ser)
n.2527G>C
20g.3229011C>TCA509558284SLC4A11c.2019G>A (p.Arg673=)
c.1950G>A (p.Arg650=)
c.1890G>A (p.Arg630=)
c.1905G>A (p.Arg635=)
c.2067G>A (p.Arg689=)
c.2148G>A (p.Arg716=)
c.*167G>A (n.*167G>A)
n.612G>A
c.2388G>A (p.Arg796=)
c.1962G>A (p.Arg654=)
c.1986G>A (p.Arg662=)
n.2117G>A
c.2382G>A (p.Arg794=)
n.2562G>A
n.2542G>A
c.2034G>A (p.Arg678=)
n.2527G>A
20g.3229012C>ACA408087193SLC4A11c.2019-1G>T (n.2019-1G>T)
c.1950-1G>T (n.1950-1G>T)
c.1890-1G>T (n.1890-1G>T)
c.1905-1G>T (n.1905-1G>T)
c.2067-1G>T (n.2067-1G>T)
c.2148-1G>T (n.2148-1G>T)
c.*167-1G>T (n.*167-1G>T)
n.612-1G>T
c.2388-1G>T (n.2388-1G>T)
c.1962-1G>T (n.1962-1G>T)
c.1986-1G>T (n.1986-1G>T)
n.2117-1G>T
c.2382-1G>T (n.2382-1G>T)
n.2562-1G>T
n.2542-1G>T
c.2034-1G>T (n.2034-1G>T)
n.2527-1G>T
20g.3229012C>GCA408087194SLC4A11c.2019-1G>C (n.2019-1G>C)
c.1950-1G>C (n.1950-1G>C)
c.1890-1G>C (n.1890-1G>C)
c.1905-1G>C (n.1905-1G>C)
c.2067-1G>C (n.2067-1G>C)
c.2148-1G>C (n.2148-1G>C)
c.*167-1G>C (n.*167-1G>C)
n.612-1G>C
c.2388-1G>C (n.2388-1G>C)
c.1962-1G>C (n.1962-1G>C)
c.1986-1G>C (n.1986-1G>C)
n.2117-1G>C
c.2382-1G>C (n.2382-1G>C)
n.2562-1G>C
n.2542-1G>C
c.2034-1G>C (n.2034-1G>C)
n.2527-1G>C
20g.3229012C>TCA408087195SLC4A11c.2019-1G>A (n.2019-1G>A)
c.1950-1G>A (n.1950-1G>A)
c.1890-1G>A (n.1890-1G>A)
c.1905-1G>A (n.1905-1G>A)
c.2067-1G>A (n.2067-1G>A)
c.2148-1G>A (n.2148-1G>A)
c.*167-1G>A (n.*167-1G>A)
n.612-1G>A
c.2388-1G>A (n.2388-1G>A)
c.1962-1G>A (n.1962-1G>A)
c.1986-1G>A (n.1986-1G>A)
n.2117-1G>A
c.2382-1G>A (n.2382-1G>A)
n.2562-1G>A
n.2542-1G>A
c.2034-1G>A (n.2034-1G>A)
n.2527-1G>A
20g.3229013T>ACA408087196SLC4A11c.2019-2A>T (n.2019-2A>T)
c.1950-2A>T (n.1950-2A>T)
c.1890-2A>T (n.1890-2A>T)
c.1905-2A>T (n.1905-2A>T)
c.2067-2A>T (n.2067-2A>T)
c.2148-2A>T (n.2148-2A>T)
c.*167-2A>T (n.*167-2A>T)
n.612-2A>T
c.2388-2A>T (n.2388-2A>T)
c.1962-2A>T (n.1962-2A>T)
c.1986-2A>T (n.1986-2A>T)
n.2117-2A>T
c.2382-2A>T (n.2382-2A>T)
n.2562-2A>T
n.2542-2A>T
c.2034-2A>T (n.2034-2A>T)
n.2527-2A>T
20g.3229013T>CCA408087197SLC4A11c.2019-2A>G (n.2019-2A>G)
c.1950-2A>G (n.1950-2A>G)
c.1890-2A>G (n.1890-2A>G)
c.1905-2A>G (n.1905-2A>G)
c.2067-2A>G (n.2067-2A>G)
c.2148-2A>G (n.2148-2A>G)
c.*167-2A>G (n.*167-2A>G)
n.612-2A>G
c.2388-2A>G (n.2388-2A>G)
c.1962-2A>G (n.1962-2A>G)
c.1986-2A>G (n.1986-2A>G)
n.2117-2A>G
c.2382-2A>G (n.2382-2A>G)
n.2562-2A>G
n.2542-2A>G
c.2034-2A>G (n.2034-2A>G)
n.2527-2A>G
20g.3229013T>GCA408087198SLC4A11c.2019-2A>C (n.2019-2A>C)
c.1950-2A>C (n.1950-2A>C)
c.1890-2A>C (n.1890-2A>C)
c.1905-2A>C (n.1905-2A>C)
c.2067-2A>C (n.2067-2A>C)
c.2148-2A>C (n.2148-2A>C)
c.*167-2A>C (n.*167-2A>C)
n.612-2A>C
c.2388-2A>C (n.2388-2A>C)
c.1962-2A>C (n.1962-2A>C)
c.1986-2A>C (n.1986-2A>C)
n.2117-2A>C
c.2382-2A>C (n.2382-2A>C)
n.2562-2A>C
n.2542-2A>C
c.2034-2A>C (n.2034-2A>C)
n.2527-2A>C
20g.3229014G>ACA9741604SLC4A11c.2019-3C>T (n.2019-3C>T)
c.1950-3C>T (n.1950-3C>T)
c.1890-3C>T (n.1890-3C>T)
c.1905-3C>T (n.1905-3C>T)
c.2067-3C>T (n.2067-3C>T)
c.2148-3C>T (n.2148-3C>T)
c.*167-3C>T (n.*167-3C>T)
n.612-3C>T
c.2388-3C>T (n.2388-3C>T)
c.1962-3C>T (n.1962-3C>T)
c.1986-3C>T (n.1986-3C>T)
n.2117-3C>T
c.2382-3C>T (n.2382-3C>T)
n.2562-3C>T
n.2542-3C>T
c.2034-3C>T (n.2034-3C>T)
n.2527-3C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229014G=CA2346475276SLC4A11c.2019-3C= (n.2019-3C=)
c.1950-3C= (n.1950-3C=)
c.1890-3C= (n.1890-3C=)
c.1905-3C= (n.1905-3C=)
c.2067-3C= (n.2067-3C=)
c.2148-3C= (n.2148-3C=)
c.*167-3C= (n.*167-3C=)
n.612-3C=
c.2388-3C= (n.2388-3C=)
c.1962-3C= (n.1962-3C=)
c.1986-3C= (n.1986-3C=)
n.2117-3C=
c.2382-3C= (n.2382-3C=)
n.2562-3C=
n.2542-3C=
c.2034-3C= (n.2034-3C=)
n.2527-3C=
20g.3229015C>ACA2346475278SLC4A11c.2019-4G>T (n.2019-4G>T)
c.1950-4G>T (n.1950-4G>T)
c.1890-4G>T (n.1890-4G>T)
c.1905-4G>T (n.1905-4G>T)
c.2067-4G>T (n.2067-4G>T)
c.2148-4G>T (n.2148-4G>T)
c.*167-4G>T (n.*167-4G>T)
n.612-4G>T
c.2388-4G>T (n.2388-4G>T)
c.1962-4G>T (n.1962-4G>T)
c.1986-4G>T (n.1986-4G>T)
n.2117-4G>T
c.2382-4G>T (n.2382-4G>T)
n.2562-4G>T
n.2542-4G>T
c.2034-4G>T (n.2034-4G>T)
n.2527-4G>T
 ClinVar dbSNP gnomAD v4
20g.3229015C=CA2346475279SLC4A11c.2019-4G= (n.2019-4G=)
c.1950-4G= (n.1950-4G=)
c.1890-4G= (n.1890-4G=)
c.1905-4G= (n.1905-4G=)
c.2067-4G= (n.2067-4G=)
c.2148-4G= (n.2148-4G=)
c.*167-4G= (n.*167-4G=)
n.612-4G=
c.2388-4G= (n.2388-4G=)
c.1962-4G= (n.1962-4G=)
c.1986-4G= (n.1986-4G=)
n.2117-4G=
c.2382-4G= (n.2382-4G=)
n.2562-4G=
n.2542-4G=
c.2034-4G= (n.2034-4G=)
n.2527-4G=
20g.3229015C>TCA2346475277SLC4A11c.2019-4G>A (n.2019-4G>A)
c.1950-4G>A (n.1950-4G>A)
c.1890-4G>A (n.1890-4G>A)
c.1905-4G>A (n.1905-4G>A)
c.2067-4G>A (n.2067-4G>A)
c.2148-4G>A (n.2148-4G>A)
c.*167-4G>A (n.*167-4G>A)
n.612-4G>A
c.2388-4G>A (n.2388-4G>A)
c.1962-4G>A (n.1962-4G>A)
c.1986-4G>A (n.1986-4G>A)
n.2117-4G>A
c.2382-4G>A (n.2382-4G>A)
n.2562-4G>A
n.2542-4G>A
c.2034-4G>A (n.2034-4G>A)
n.2527-4G>A
 ClinVar dbSNP gnomAD v4
20g.3229015_3229016delinsCACA2346475280SLC4A11c.2019-5_2019-4delinsTG (n.2019-5_2019-4delinsTG)
c.1950-5_1950-4delinsTG (n.1950-5_1950-4delinsTG)
c.1890-5_1890-4delinsTG (n.1890-5_1890-4delinsTG)
c.1905-5_1905-4delinsTG (n.1905-5_1905-4delinsTG)
c.2067-5_2067-4delinsTG (n.2067-5_2067-4delinsTG)
c.2148-5_2148-4delinsTG (n.2148-5_2148-4delinsTG)
c.*167-5_*167-4delinsTG (n.*167-5_*167-4delinsTG)
n.612-5_612-4delinsTG
c.2388-5_2388-4delinsTG (n.2388-5_2388-4delinsTG)
c.1962-5_1962-4delinsTG (n.1962-5_1962-4delinsTG)
c.1986-5_1986-4delinsTG (n.1986-5_1986-4delinsTG)
n.2117-5_2117-4delinsTG
c.2382-5_2382-4delinsTG (n.2382-5_2382-4delinsTG)
n.2562-5_2562-4delinsTG
n.2542-5_2542-4delinsTG
c.2034-5_2034-4delinsTG (n.2034-5_2034-4delinsTG)
n.2527-5_2527-4delinsTG
20g.3229016delCA9741605SLC4A11c.2019-5del (n.2019-5del)
c.1950-5del (n.1950-5del)
c.1890-5del (n.1890-5del)
c.1905-5del (n.1905-5del)
c.2067-5del (n.2067-5del)
c.2148-5del (n.2148-5del)
c.*167-5del (n.*167-5del)
n.612-5del
c.2388-5del (n.2388-5del)
c.1962-5del (n.1962-5del)
c.1986-5del (n.1986-5del)
n.2117-5del
c.2382-5del (n.2382-5del)
n.2562-5del
n.2542-5del
c.2034-5del (n.2034-5del)
n.2527-5del
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3229016_3229027delinsAGCAGACGGGCACA2346475281SLC4A11c.2019-16_2019-5delinsTGCCCGTCTGCT (n.2019-16_2019-5delinsTGCCCGTCTGCT)
c.1950-16_1950-5delinsTGCCCGTCTGCT (n.1950-16_1950-5delinsTGCCCGTCTGCT)
c.1890-16_1890-5delinsTGCCCGTCTGCT (n.1890-16_1890-5delinsTGCCCGTCTGCT)
c.1905-16_1905-5delinsTGCCCGTCTGCT (n.1905-16_1905-5delinsTGCCCGTCTGCT)
c.2067-16_2067-5delinsTGCCCGTCTGCT (n.2067-16_2067-5delinsTGCCCGTCTGCT)
c.2148-16_2148-5delinsTGCCCGTCTGCT (n.2148-16_2148-5delinsTGCCCGTCTGCT)
c.*167-16_*167-5delinsTGCCCGTCTGCT (n.*167-16_*167-5delinsTGCCCGTCTGCT)
n.612-16_612-5delinsTGCCCGTCTGCT
c.2388-16_2388-5delinsTGCCCGTCTGCT (n.2388-16_2388-5delinsTGCCCGTCTGCT)
c.1962-16_1962-5delinsTGCCCGTCTGCT (n.1962-16_1962-5delinsTGCCCGTCTGCT)
c.1986-16_1986-5delinsTGCCCGTCTGCT (n.1986-16_1986-5delinsTGCCCGTCTGCT)
n.2117-16_2117-5delinsTGCCCGTCTGCT
c.2382-16_2382-5delinsTGCCCGTCTGCT (n.2382-16_2382-5delinsTGCCCGTCTGCT)
n.2562-16_2562-5delinsTGCCCGTCTGCT
n.2542-16_2542-5delinsTGCCCGTCTGCT
c.2034-16_2034-5delinsTGCCCGTCTGCT (n.2034-16_2034-5delinsTGCCCGTCTGCT)
n.2527-16_2527-5delinsTGCCCGTCTGCT
20g.3229017G>ACA2695229233SLC4A11c.2019-6C>T (n.2019-6C>T)
c.1950-6C>T (n.1950-6C>T)
c.1890-6C>T (n.1890-6C>T)
c.1905-6C>T (n.1905-6C>T)
c.2067-6C>T (n.2067-6C>T)
c.2148-6C>T (n.2148-6C>T)
c.*167-6C>T (n.*167-6C>T)
n.612-6C>T
c.2388-6C>T (n.2388-6C>T)
c.1962-6C>T (n.1962-6C>T)
c.1986-6C>T (n.1986-6C>T)
n.2117-6C>T
c.2382-6C>T (n.2382-6C>T)
n.2562-6C>T
n.2542-6C>T
c.2034-6C>T (n.2034-6C>T)
n.2527-6C>T
20g.3229017G>TCA2651691267SLC4A11c.2019-6C>A (n.2019-6C>A)
c.1950-6C>A (n.1950-6C>A)
c.1890-6C>A (n.1890-6C>A)
c.1905-6C>A (n.1905-6C>A)
c.2067-6C>A (n.2067-6C>A)
c.2148-6C>A (n.2148-6C>A)
c.*167-6C>A (n.*167-6C>A)
n.612-6C>A
c.2388-6C>A (n.2388-6C>A)
c.1962-6C>A (n.1962-6C>A)
c.1986-6C>A (n.1986-6C>A)
n.2117-6C>A
c.2382-6C>A (n.2382-6C>A)
n.2562-6C>A
n.2542-6C>A
c.2034-6C>A (n.2034-6C>A)
n.2527-6C>A
 gnomAD v4
20g.3229017_3229027delinsCCGGCCGGCCCA354154SLC4A11c.2019-16_2019-6delinsGGCCGGCCGG (n.2019-16_2019-6delinsGGCCGGCCGG)
c.1950-16_1950-6delinsGGCCGGCCGG (n.1950-16_1950-6delinsGGCCGGCCGG)
c.1890-16_1890-6delinsGGCCGGCCGG (n.1890-16_1890-6delinsGGCCGGCCGG)
c.1905-16_1905-6delinsGGCCGGCCGG (n.1905-16_1905-6delinsGGCCGGCCGG)
c.2067-16_2067-6delinsGGCCGGCCGG (n.2067-16_2067-6delinsGGCCGGCCGG)
c.2148-16_2148-6delinsGGCCGGCCGG (n.2148-16_2148-6delinsGGCCGGCCGG)
c.*167-16_*167-6delinsGGCCGGCCGG (n.*167-16_*167-6delinsGGCCGGCCGG)
n.612-16_612-6delinsGGCCGGCCGG
c.2388-16_2388-6delinsGGCCGGCCGG (n.2388-16_2388-6delinsGGCCGGCCGG)
c.1962-16_1962-6delinsGGCCGGCCGG (n.1962-16_1962-6delinsGGCCGGCCGG)
c.1986-16_1986-6delinsGGCCGGCCGG (n.1986-16_1986-6delinsGGCCGGCCGG)
n.2117-16_2117-6delinsGGCCGGCCGG
c.2382-16_2382-6delinsGGCCGGCCGG (n.2382-16_2382-6delinsGGCCGGCCGG)
n.2562-16_2562-6delinsGGCCGGCCGG
n.2542-16_2542-6delinsGGCCGGCCGG
c.2034-16_2034-6delinsGGCCGGCCGG (n.2034-16_2034-6delinsGGCCGGCCGG)
n.2527-16_2527-6delinsGGCCGGCCGG
 ClinVar dbSNP
20g.3229018C=CA2346475282SLC4A11c.2019-7G= (n.2019-7G=)
c.1950-7G= (n.1950-7G=)
c.1890-7G= (n.1890-7G=)
c.1905-7G= (n.1905-7G=)
c.2067-7G= (n.2067-7G=)
c.2148-7G= (n.2148-7G=)
c.*167-7G= (n.*167-7G=)
n.612-7G=
c.2388-7G= (n.2388-7G=)
c.1962-7G= (n.1962-7G=)
c.1986-7G= (n.1986-7G=)
n.2117-7G=
c.2382-7G= (n.2382-7G=)
n.2562-7G=
n.2542-7G=
c.2034-7G= (n.2034-7G=)
n.2527-7G=
20g.3229018C>TCA743604252SLC4A11c.2019-7G>A (n.2019-7G>A)
c.1950-7G>A (n.1950-7G>A)
c.1890-7G>A (n.1890-7G>A)
c.1905-7G>A (n.1905-7G>A)
c.2067-7G>A (n.2067-7G>A)
c.2148-7G>A (n.2148-7G>A)
c.*167-7G>A (n.*167-7G>A)
n.612-7G>A
c.2388-7G>A (n.2388-7G>A)
c.1962-7G>A (n.1962-7G>A)
c.1986-7G>A (n.1986-7G>A)
n.2117-7G>A
c.2382-7G>A (n.2382-7G>A)
n.2562-7G>A
n.2542-7G>A
c.2034-7G>A (n.2034-7G>A)
n.2527-7G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.3229020G>CCA634329261SLC4A11c.2019-9C>G (n.2019-9C>G)
c.1950-9C>G (n.1950-9C>G)
c.1890-9C>G (n.1890-9C>G)
c.1905-9C>G (n.1905-9C>G)
c.2067-9C>G (n.2067-9C>G)
c.2148-9C>G (n.2148-9C>G)
c.*167-9C>G (n.*167-9C>G)
n.612-9C>G
c.2388-9C>G (n.2388-9C>G)
c.1962-9C>G (n.1962-9C>G)
c.1986-9C>G (n.1986-9C>G)
n.2117-9C>G
c.2382-9C>G (n.2382-9C>G)
n.2562-9C>G
n.2542-9C>G
c.2034-9C>G (n.2034-9C>G)
n.2527-9C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3229020G=CA2346475283SLC4A11c.2019-9C= (n.2019-9C=)
c.1950-9C= (n.1950-9C=)
c.1890-9C= (n.1890-9C=)
c.1905-9C= (n.1905-9C=)
c.2067-9C= (n.2067-9C=)
c.2148-9C= (n.2148-9C=)
c.*167-9C= (n.*167-9C=)
n.612-9C=
c.2388-9C= (n.2388-9C=)
c.1962-9C= (n.1962-9C=)
c.1986-9C= (n.1986-9C=)
n.2117-9C=
c.2382-9C= (n.2382-9C=)
n.2562-9C=
n.2542-9C=
c.2034-9C= (n.2034-9C=)
n.2527-9C=
20g.3229022C=CA2346475284SLC4A11c.2019-11G= (n.2019-11G=)
c.1950-11G= (n.1950-11G=)
c.1890-11G= (n.1890-11G=)
c.1905-11G= (n.1905-11G=)
c.2067-11G= (n.2067-11G=)
c.2148-11G= (n.2148-11G=)
c.*167-11G= (n.*167-11G=)
n.612-11G=
c.2388-11G= (n.2388-11G=)
c.1962-11G= (n.1962-11G=)
c.1986-11G= (n.1986-11G=)
n.2117-11G=
c.2382-11G= (n.2382-11G=)
n.2562-11G=
n.2542-11G=
c.2034-11G= (n.2034-11G=)
n.2527-11G=
20g.3229022C>GCA743604255SLC4A11c.2019-11G>C (n.2019-11G>C)
c.1950-11G>C (n.1950-11G>C)
c.1890-11G>C (n.1890-11G>C)
c.1905-11G>C (n.1905-11G>C)
c.2067-11G>C (n.2067-11G>C)
c.2148-11G>C (n.2148-11G>C)
c.*167-11G>C (n.*167-11G>C)
n.612-11G>C
c.2388-11G>C (n.2388-11G>C)
c.1962-11G>C (n.1962-11G>C)
c.1986-11G>C (n.1986-11G>C)
n.2117-11G>C
c.2382-11G>C (n.2382-11G>C)
n.2562-11G>C
n.2542-11G>C
c.2034-11G>C (n.2034-11G>C)
n.2527-11G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.3229022C>TCA9741606SLC4A11c.2019-11G>A (n.2019-11G>A)
c.1950-11G>A (n.1950-11G>A)
c.1890-11G>A (n.1890-11G>A)
c.1905-11G>A (n.1905-11G>A)
c.2067-11G>A (n.2067-11G>A)
c.2148-11G>A (n.2148-11G>A)
c.*167-11G>A (n.*167-11G>A)
n.612-11G>A
c.2388-11G>A (n.2388-11G>A)
c.1962-11G>A (n.1962-11G>A)
c.1986-11G>A (n.1986-11G>A)
n.2117-11G>A
c.2382-11G>A (n.2382-11G>A)
n.2562-11G>A
n.2542-11G>A
c.2034-11G>A (n.2034-11G>A)
n.2527-11G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229023G>ACA9741607SLC4A11c.2019-12C>T (n.2019-12C>T)
c.1950-12C>T (n.1950-12C>T)
c.1890-12C>T (n.1890-12C>T)
c.1905-12C>T (n.1905-12C>T)
c.2067-12C>T (n.2067-12C>T)
c.2148-12C>T (n.2148-12C>T)
c.*167-12C>T (n.*167-12C>T)
n.612-12C>T
c.2388-12C>T (n.2388-12C>T)
c.1962-12C>T (n.1962-12C>T)
c.1986-12C>T (n.1986-12C>T)
n.2117-12C>T
c.2382-12C>T (n.2382-12C>T)
n.2562-12C>T
n.2542-12C>T
c.2034-12C>T (n.2034-12C>T)
n.2527-12C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229023G>CCA2346475286SLC4A11c.2019-12C>G (n.2019-12C>G)
c.1950-12C>G (n.1950-12C>G)
c.1890-12C>G (n.1890-12C>G)
c.1905-12C>G (n.1905-12C>G)
c.2067-12C>G (n.2067-12C>G)
c.2148-12C>G (n.2148-12C>G)
c.*167-12C>G (n.*167-12C>G)
n.612-12C>G
c.2388-12C>G (n.2388-12C>G)
c.1962-12C>G (n.1962-12C>G)
c.1986-12C>G (n.1986-12C>G)
n.2117-12C>G
c.2382-12C>G (n.2382-12C>G)
n.2562-12C>G
n.2542-12C>G
c.2034-12C>G (n.2034-12C>G)
n.2527-12C>G
 ClinVar dbSNP gnomAD v4
20g.3229023G=CA2346475285SLC4A11c.2019-12C= (n.2019-12C=)
c.1950-12C= (n.1950-12C=)
c.1890-12C= (n.1890-12C=)
c.1905-12C= (n.1905-12C=)
c.2067-12C= (n.2067-12C=)
c.2148-12C= (n.2148-12C=)
c.*167-12C= (n.*167-12C=)
n.612-12C=
c.2388-12C= (n.2388-12C=)
c.1962-12C= (n.1962-12C=)
c.1986-12C= (n.1986-12C=)
n.2117-12C=
c.2382-12C= (n.2382-12C=)
n.2562-12C=
n.2542-12C=
c.2034-12C= (n.2034-12C=)
n.2527-12C=
20g.3229023G>TCA2651691268SLC4A11c.2019-12C>A (n.2019-12C>A)
c.1950-12C>A (n.1950-12C>A)
c.1890-12C>A (n.1890-12C>A)
c.1905-12C>A (n.1905-12C>A)
c.2067-12C>A (n.2067-12C>A)
c.2148-12C>A (n.2148-12C>A)
c.*167-12C>A (n.*167-12C>A)
n.612-12C>A
c.2388-12C>A (n.2388-12C>A)
c.1962-12C>A (n.1962-12C>A)
c.1986-12C>A (n.1986-12C>A)
n.2117-12C>A
c.2382-12C>A (n.2382-12C>A)
n.2562-12C>A
n.2542-12C>A
c.2034-12C>A (n.2034-12C>A)
n.2527-12C>A
 gnomAD v4
20g.3229025G>ACA2651691269SLC4A11c.2019-14C>T (n.2019-14C>T)
c.1950-14C>T (n.1950-14C>T)
c.1890-14C>T (n.1890-14C>T)
c.1905-14C>T (n.1905-14C>T)
c.2067-14C>T (n.2067-14C>T)
c.2148-14C>T (n.2148-14C>T)
c.*167-14C>T (n.*167-14C>T)
n.612-14C>T
c.2388-14C>T (n.2388-14C>T)
c.1962-14C>T (n.1962-14C>T)
c.1986-14C>T (n.1986-14C>T)
n.2117-14C>T
c.2382-14C>T (n.2382-14C>T)
n.2562-14C>T
n.2542-14C>T
c.2034-14C>T (n.2034-14C>T)
n.2527-14C>T
 ClinVar gnomAD v4
20g.3229026C>ACA9741608SLC4A11c.2019-15G>T (n.2019-15G>T)
c.1950-15G>T (n.1950-15G>T)
c.1890-15G>T (n.1890-15G>T)
c.1905-15G>T (n.1905-15G>T)
c.2067-15G>T (n.2067-15G>T)
c.2148-15G>T (n.2148-15G>T)
c.*167-15G>T (n.*167-15G>T)
n.612-15G>T
c.2388-15G>T (n.2388-15G>T)
c.1962-15G>T (n.1962-15G>T)
c.1986-15G>T (n.1986-15G>T)
n.2117-15G>T
c.2382-15G>T (n.2382-15G>T)
n.2562-15G>T
n.2542-15G>T
c.2034-15G>T (n.2034-15G>T)
n.2527-15G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229026C=CA2346475287SLC4A11c.2019-15G= (n.2019-15G=)
c.1950-15G= (n.1950-15G=)
c.1890-15G= (n.1890-15G=)
c.1905-15G= (n.1905-15G=)
c.2067-15G= (n.2067-15G=)
c.2148-15G= (n.2148-15G=)
c.*167-15G= (n.*167-15G=)
n.612-15G=
c.2388-15G= (n.2388-15G=)
c.1962-15G= (n.1962-15G=)
c.1986-15G= (n.1986-15G=)
n.2117-15G=
c.2382-15G= (n.2382-15G=)
n.2562-15G=
n.2542-15G=
c.2034-15G= (n.2034-15G=)
n.2527-15G=
20g.3229026C>GCA2815075166SLC4A11c.2019-15G>C (n.2019-15G>C)
c.1950-15G>C (n.1950-15G>C)
c.1890-15G>C (n.1890-15G>C)
c.1905-15G>C (n.1905-15G>C)
c.2067-15G>C (n.2067-15G>C)
c.2148-15G>C (n.2148-15G>C)
c.*167-15G>C (n.*167-15G>C)
n.612-15G>C
c.2388-15G>C (n.2388-15G>C)
c.1962-15G>C (n.1962-15G>C)
c.1986-15G>C (n.1986-15G>C)
n.2117-15G>C
c.2382-15G>C (n.2382-15G>C)
n.2562-15G>C
n.2542-15G>C
c.2034-15G>C (n.2034-15G>C)
n.2527-15G>C
20g.3229027A>GCA2739277022SLC4A11c.2019-16T>C (n.2019-16T>C)
c.1950-16T>C (n.1950-16T>C)
c.1890-16T>C (n.1890-16T>C)
c.1905-16T>C (n.1905-16T>C)
c.2067-16T>C (n.2067-16T>C)
c.2148-16T>C (n.2148-16T>C)
c.*167-16T>C (n.*167-16T>C)
n.612-16T>C
c.2388-16T>C (n.2388-16T>C)
c.1962-16T>C (n.1962-16T>C)
c.1986-16T>C (n.1986-16T>C)
n.2117-16T>C
c.2382-16T>C (n.2382-16T>C)
n.2562-16T>C
n.2542-16T>C
c.2034-16T>C (n.2034-16T>C)
n.2527-16T>C
 ClinVar
20g.3229028C>ACA310986034SLC4A11c.2019-17G>T (n.2019-17G>T)
c.1950-17G>T (n.1950-17G>T)
c.1890-17G>T (n.1890-17G>T)
c.1905-17G>T (n.1905-17G>T)
c.2067-17G>T (n.2067-17G>T)
c.2148-17G>T (n.2148-17G>T)
c.*167-17G>T (n.*167-17G>T)
n.612-17G>T
c.2388-17G>T (n.2388-17G>T)
c.1962-17G>T (n.1962-17G>T)
c.1986-17G>T (n.1986-17G>T)
n.2117-17G>T
c.2382-17G>T (n.2382-17G>T)
n.2562-17G>T
n.2542-17G>T
c.2034-17G>T (n.2034-17G>T)
n.2527-17G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3229028C=CA2346475288SLC4A11c.2019-17G= (n.2019-17G=)
c.1950-17G= (n.1950-17G=)
c.1890-17G= (n.1890-17G=)
c.1905-17G= (n.1905-17G=)
c.2067-17G= (n.2067-17G=)
c.2148-17G= (n.2148-17G=)
c.*167-17G= (n.*167-17G=)
n.612-17G=
c.2388-17G= (n.2388-17G=)
c.1962-17G= (n.1962-17G=)
c.1986-17G= (n.1986-17G=)
n.2117-17G=
c.2382-17G= (n.2382-17G=)
n.2562-17G=
n.2542-17G=
c.2034-17G= (n.2034-17G=)
n.2527-17G=
20g.3229028C>TCA9741609SLC4A11c.2019-17G>A (n.2019-17G>A)
c.1950-17G>A (n.1950-17G>A)
c.1890-17G>A (n.1890-17G>A)
c.1905-17G>A (n.1905-17G>A)
c.2067-17G>A (n.2067-17G>A)
c.2148-17G>A (n.2148-17G>A)
c.*167-17G>A (n.*167-17G>A)
n.612-17G>A
c.2388-17G>A (n.2388-17G>A)
c.1962-17G>A (n.1962-17G>A)
c.1986-17G>A (n.1986-17G>A)
n.2117-17G>A
c.2382-17G>A (n.2382-17G>A)
n.2562-17G>A
n.2542-17G>A
c.2034-17G>A (n.2034-17G>A)
n.2527-17G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229028_3229029insACA2346475289SLC4A11c.2019-18_2019-17insT (n.2019-18_2019-17insT)
c.1950-18_1950-17insT (n.1950-18_1950-17insT)
c.1890-18_1890-17insT (n.1890-18_1890-17insT)
c.1905-18_1905-17insT (n.1905-18_1905-17insT)
c.2067-18_2067-17insT (n.2067-18_2067-17insT)
c.2148-18_2148-17insT (n.2148-18_2148-17insT)
c.*167-18_*167-17insT (n.*167-18_*167-17insT)
n.612-18_612-17insT
c.2388-18_2388-17insT (n.2388-18_2388-17insT)
c.1962-18_1962-17insT (n.1962-18_1962-17insT)
c.1986-18_1986-17insT (n.1986-18_1986-17insT)
n.2117-18_2117-17insT
c.2382-18_2382-17insT (n.2382-18_2382-17insT)
n.2562-18_2562-17insT
n.2542-18_2542-17insT
c.2034-18_2034-17insT (n.2034-18_2034-17insT)
n.2527-18_2527-17insT
 dbSNP
20g.3229029T=CA2346475290SLC4A11c.2019-18A= (n.2019-18A=)
c.1950-18A= (n.1950-18A=)
c.1890-18A= (n.1890-18A=)
c.1905-18A= (n.1905-18A=)
c.2067-18A= (n.2067-18A=)
c.2148-18A= (n.2148-18A=)
c.*167-18A= (n.*167-18A=)
n.612-18A=
c.2388-18A= (n.2388-18A=)
c.1962-18A= (n.1962-18A=)
c.1986-18A= (n.1986-18A=)
n.2117-18A=
c.2382-18A= (n.2382-18A=)
n.2562-18A=
n.2542-18A=
c.2034-18A= (n.2034-18A=)
n.2527-18A=
20g.3229030C>ACA2651691270SLC4A11c.2019-19G>T (n.2019-19G>T)
c.1950-19G>T (n.1950-19G>T)
c.1890-19G>T (n.1890-19G>T)
c.1905-19G>T (n.1905-19G>T)
c.2067-19G>T (n.2067-19G>T)
c.2148-19G>T (n.2148-19G>T)
c.*167-19G>T (n.*167-19G>T)
n.612-19G>T
c.2388-19G>T (n.2388-19G>T)
c.1962-19G>T (n.1962-19G>T)
c.1986-19G>T (n.1986-19G>T)
n.2117-19G>T
c.2382-19G>T (n.2382-19G>T)
n.2562-19G>T
n.2542-19G>T
c.2034-19G>T (n.2034-19G>T)
n.2527-19G>T
 gnomAD v4
20g.3229030C=CA2346475292SLC4A11c.2019-19G= (n.2019-19G=)
c.1950-19G= (n.1950-19G=)
c.1890-19G= (n.1890-19G=)
c.1905-19G= (n.1905-19G=)
c.2067-19G= (n.2067-19G=)
c.2148-19G= (n.2148-19G=)
c.*167-19G= (n.*167-19G=)
n.612-19G=
c.2388-19G= (n.2388-19G=)
c.1962-19G= (n.1962-19G=)
c.1986-19G= (n.1986-19G=)
n.2117-19G=
c.2382-19G= (n.2382-19G=)
n.2562-19G=
n.2542-19G=
c.2034-19G= (n.2034-19G=)
n.2527-19G=
20g.3229030C>TCA9741610SLC4A11c.2019-19G>A (n.2019-19G>A)
c.1950-19G>A (n.1950-19G>A)
c.1890-19G>A (n.1890-19G>A)
c.1905-19G>A (n.1905-19G>A)
c.2067-19G>A (n.2067-19G>A)
c.2148-19G>A (n.2148-19G>A)
c.*167-19G>A (n.*167-19G>A)
n.612-19G>A
c.2388-19G>A (n.2388-19G>A)
c.1962-19G>A (n.1962-19G>A)
c.1986-19G>A (n.1986-19G>A)
n.2117-19G>A
c.2382-19G>A (n.2382-19G>A)
n.2562-19G>A
n.2542-19G>A
c.2034-19G>A (n.2034-19G>A)
n.2527-19G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229030_3229031insTATGACACCA2346475291SLC4A11c.2019-19_2019-18insTGTCATAG (n.2019-19_2019-18insTGTCATAG)
c.1950-19_1950-18insTGTCATAG (n.1950-19_1950-18insTGTCATAG)
c.1890-19_1890-18insTGTCATAG (n.1890-19_1890-18insTGTCATAG)
c.1905-19_1905-18insTGTCATAG (n.1905-19_1905-18insTGTCATAG)
c.2067-19_2067-18insTGTCATAG (n.2067-19_2067-18insTGTCATAG)
c.2148-19_2148-18insTGTCATAG (n.2148-19_2148-18insTGTCATAG)
c.*167-19_*167-18insTGTCATAG (n.*167-19_*167-18insTGTCATAG)
n.612-19_612-18insTGTCATAG
c.2388-19_2388-18insTGTCATAG (n.2388-19_2388-18insTGTCATAG)
c.1962-19_1962-18insTGTCATAG (n.1962-19_1962-18insTGTCATAG)
c.1986-19_1986-18insTGTCATAG (n.1986-19_1986-18insTGTCATAG)
n.2117-19_2117-18insTGTCATAG
c.2382-19_2382-18insTGTCATAG (n.2382-19_2382-18insTGTCATAG)
n.2562-19_2562-18insTGTCATAG
n.2542-19_2542-18insTGTCATAG
c.2034-19_2034-18insTGTCATAG (n.2034-19_2034-18insTGTCATAG)
n.2527-19_2527-18insTGTCATAG
 dbSNP
20g.3229030_3229031insTCA634329262SLC4A11c.2019-20_2019-19insA (n.2019-20_2019-19insA)
c.1950-20_1950-19insA (n.1950-20_1950-19insA)
c.1890-20_1890-19insA (n.1890-20_1890-19insA)
c.1905-20_1905-19insA (n.1905-20_1905-19insA)
c.2067-20_2067-19insA (n.2067-20_2067-19insA)
c.2148-20_2148-19insA (n.2148-20_2148-19insA)
c.*167-20_*167-19insA (n.*167-20_*167-19insA)
n.612-20_612-19insA
c.2388-20_2388-19insA (n.2388-20_2388-19insA)
c.1962-20_1962-19insA (n.1962-20_1962-19insA)
c.1986-20_1986-19insA (n.1986-20_1986-19insA)
n.2117-20_2117-19insA
c.2382-20_2382-19insA (n.2382-20_2382-19insA)
n.2562-20_2562-19insA
n.2542-20_2542-19insA
c.2034-20_2034-19insA (n.2034-20_2034-19insA)
n.2527-20_2527-19insA
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3229031G>ACA9741611SLC4A11c.2019-20C>T (n.2019-20C>T)
c.1950-20C>T (n.1950-20C>T)
c.1890-20C>T (n.1890-20C>T)
c.1905-20C>T (n.1905-20C>T)
c.2067-20C>T (n.2067-20C>T)
c.2148-20C>T (n.2148-20C>T)
c.*167-20C>T (n.*167-20C>T)
n.612-20C>T
c.2388-20C>T (n.2388-20C>T)
c.1962-20C>T (n.1962-20C>T)
c.1986-20C>T (n.1986-20C>T)
n.2117-20C>T
c.2382-20C>T (n.2382-20C>T)
n.2562-20C>T
n.2542-20C>T
c.2034-20C>T (n.2034-20C>T)
n.2527-20C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229031G=CA2346475293SLC4A11c.2019-20C= (n.2019-20C=)
c.1950-20C= (n.1950-20C=)
c.1890-20C= (n.1890-20C=)
c.1905-20C= (n.1905-20C=)
c.2067-20C= (n.2067-20C=)
c.2148-20C= (n.2148-20C=)
c.*167-20C= (n.*167-20C=)
n.612-20C=
c.2388-20C= (n.2388-20C=)
c.1962-20C= (n.1962-20C=)
c.1986-20C= (n.1986-20C=)
n.2117-20C=
c.2382-20C= (n.2382-20C=)
n.2562-20C=
n.2542-20C=
c.2034-20C= (n.2034-20C=)
n.2527-20C=
20g.3229032T>CCA9741612SLC4A11c.2019-21A>G (n.2019-21A>G)
c.1950-21A>G (n.1950-21A>G)
c.1890-21A>G (n.1890-21A>G)
c.1905-21A>G (n.1905-21A>G)
c.2067-21A>G (n.2067-21A>G)
c.2148-21A>G (n.2148-21A>G)
c.*167-21A>G (n.*167-21A>G)
n.612-21A>G
c.2388-21A>G (n.2388-21A>G)
c.1962-21A>G (n.1962-21A>G)
c.1986-21A>G (n.1986-21A>G)
n.2117-21A>G
c.2382-21A>G (n.2382-21A>G)
n.2562-21A>G
n.2542-21A>G
c.2034-21A>G (n.2034-21A>G)
n.2527-21A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229032T>GCA2651691271SLC4A11c.2019-21A>C (n.2019-21A>C)
c.1950-21A>C (n.1950-21A>C)
c.1890-21A>C (n.1890-21A>C)
c.1905-21A>C (n.1905-21A>C)
c.2067-21A>C (n.2067-21A>C)
c.2148-21A>C (n.2148-21A>C)
c.*167-21A>C (n.*167-21A>C)
n.612-21A>C
c.2388-21A>C (n.2388-21A>C)
c.1962-21A>C (n.1962-21A>C)
c.1986-21A>C (n.1986-21A>C)
n.2117-21A>C
c.2382-21A>C (n.2382-21A>C)
n.2562-21A>C
n.2542-21A>C
c.2034-21A>C (n.2034-21A>C)
n.2527-21A>C
 gnomAD v4
20g.3229032T=CA2346475294SLC4A11c.2019-21A= (n.2019-21A=)
c.1950-21A= (n.1950-21A=)
c.1890-21A= (n.1890-21A=)
c.1905-21A= (n.1905-21A=)
c.2067-21A= (n.2067-21A=)
c.2148-21A= (n.2148-21A=)
c.*167-21A= (n.*167-21A=)
n.612-21A=
c.2388-21A= (n.2388-21A=)
c.1962-21A= (n.1962-21A=)
c.1986-21A= (n.1986-21A=)
n.2117-21A=
c.2382-21A= (n.2382-21A=)
n.2562-21A=
n.2542-21A=
c.2034-21A= (n.2034-21A=)
n.2527-21A=
20g.3229034G>ACA2651691272SLC4A11c.2019-23C>T (n.2019-23C>T)
c.1950-23C>T (n.1950-23C>T)
c.1890-23C>T (n.1890-23C>T)
c.1905-23C>T (n.1905-23C>T)
c.2067-23C>T (n.2067-23C>T)
c.2148-23C>T (n.2148-23C>T)
c.*167-23C>T (n.*167-23C>T)
n.612-23C>T
c.2388-23C>T (n.2388-23C>T)
c.1962-23C>T (n.1962-23C>T)
c.1986-23C>T (n.1986-23C>T)
n.2117-23C>T
c.2382-23C>T (n.2382-23C>T)
n.2562-23C>T
n.2542-23C>T
c.2034-23C>T (n.2034-23C>T)
n.2527-23C>T
 gnomAD v4
20g.3229060_3229061insGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAGAGCCCCACAGCAGAGGCCCGGGCA2651691273SLC4A11c.2019-25_2019-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.2019-25_2019-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
c.1950-25_1950-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.1950-25_1950-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
c.1890-25_1890-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.1890-25_1890-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
c.1905-25_1905-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.1905-25_1905-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
c.2067-25_2067-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.2067-25_2067-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
c.2148-25_2148-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.2148-25_2148-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
c.*167-25_*167-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.*167-25_*167-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
n.612-25_612-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG
c.2388-25_2388-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.2388-25_2388-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
c.1962-25_1962-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.1962-25_1962-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
c.1986-25_1986-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.1986-25_1986-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
n.2117-25_2117-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG
c.2382-25_2382-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.2382-25_2382-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
n.2562-25_2562-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG
n.2542-25_2542-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG
c.2034-25_2034-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG (n.2034-25_2034-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG)
n.2527-25_2527-24insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCTCTGCTGTGGGGCTCTG
 gnomAD v4
20g.3229037A=CA2346475295SLC4A11c.2019-26T= (n.2019-26T=)
c.1950-26T= (n.1950-26T=)
c.1890-26T= (n.1890-26T=)
c.1905-26T= (n.1905-26T=)
c.2067-26T= (n.2067-26T=)
c.2148-26T= (n.2148-26T=)
c.*167-26T= (n.*167-26T=)
n.612-26T=
c.2388-26T= (n.2388-26T=)
c.1962-26T= (n.1962-26T=)
c.1986-26T= (n.1986-26T=)
n.2117-26T=
c.2382-26T= (n.2382-26T=)
n.2562-26T=
n.2542-26T=
c.2034-26T= (n.2034-26T=)
n.2527-26T=
20g.3229037A>GCA9741613SLC4A11c.2019-26T>C (n.2019-26T>C)
c.1950-26T>C (n.1950-26T>C)
c.1890-26T>C (n.1890-26T>C)
c.1905-26T>C (n.1905-26T>C)
c.2067-26T>C (n.2067-26T>C)
c.2148-26T>C (n.2148-26T>C)
c.*167-26T>C (n.*167-26T>C)
n.612-26T>C
c.2388-26T>C (n.2388-26T>C)
c.1962-26T>C (n.1962-26T>C)
c.1986-26T>C (n.1986-26T>C)
n.2117-26T>C
c.2382-26T>C (n.2382-26T>C)
n.2562-26T>C
n.2542-26T>C
c.2034-26T>C (n.2034-26T>C)
n.2527-26T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3229038G>ACA9741614SLC4A11c.2019-27C>T (n.2019-27C>T)
c.1950-27C>T (n.1950-27C>T)
c.1890-27C>T (n.1890-27C>T)
c.1905-27C>T (n.1905-27C>T)
c.2067-27C>T (n.2067-27C>T)
c.2148-27C>T (n.2148-27C>T)
c.*167-27C>T (n.*167-27C>T)
n.612-27C>T
c.2388-27C>T (n.2388-27C>T)
c.1962-27C>T (n.1962-27C>T)
c.1986-27C>T (n.1986-27C>T)
n.2117-27C>T
c.2382-27C>T (n.2382-27C>T)
n.2562-27C>T
n.2542-27C>T
c.2034-27C>T (n.2034-27C>T)
n.2527-27C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229038G>CCA310986060SLC4A11c.2019-27C>G (n.2019-27C>G)
c.1950-27C>G (n.1950-27C>G)
c.1890-27C>G (n.1890-27C>G)
c.1905-27C>G (n.1905-27C>G)
c.2067-27C>G (n.2067-27C>G)
c.2148-27C>G (n.2148-27C>G)
c.*167-27C>G (n.*167-27C>G)
n.612-27C>G
c.2388-27C>G (n.2388-27C>G)
c.1962-27C>G (n.1962-27C>G)
c.1986-27C>G (n.1986-27C>G)
n.2117-27C>G
c.2382-27C>G (n.2382-27C>G)
n.2562-27C>G
n.2542-27C>G
c.2034-27C>G (n.2034-27C>G)
n.2527-27C>G
 dbSNP gnomAD v4
20g.3229038G=CA2346475296SLC4A11c.2019-27C= (n.2019-27C=)
c.1950-27C= (n.1950-27C=)
c.1890-27C= (n.1890-27C=)
c.1905-27C= (n.1905-27C=)
c.2067-27C= (n.2067-27C=)
c.2148-27C= (n.2148-27C=)
c.*167-27C= (n.*167-27C=)
n.612-27C=
c.2388-27C= (n.2388-27C=)
c.1962-27C= (n.1962-27C=)
c.1986-27C= (n.1986-27C=)
n.2117-27C=
c.2382-27C= (n.2382-27C=)
n.2562-27C=
n.2542-27C=
c.2034-27C= (n.2034-27C=)
n.2527-27C=
20g.3229039A=CA2346475297SLC4A11c.2019-28T= (n.2019-28T=)
c.1950-28T= (n.1950-28T=)
c.1890-28T= (n.1890-28T=)
c.1905-28T= (n.1905-28T=)
c.2067-28T= (n.2067-28T=)
c.2148-28T= (n.2148-28T=)
c.*167-28T= (n.*167-28T=)
n.612-28T=
c.2388-28T= (n.2388-28T=)
c.1962-28T= (n.1962-28T=)
c.1986-28T= (n.1986-28T=)
n.2117-28T=
c.2382-28T= (n.2382-28T=)
n.2562-28T=
n.2542-28T=
c.2034-28T= (n.2034-28T=)
n.2527-28T=
20g.3229039A>GCA1014849505SLC4A11c.2019-28T>C (n.2019-28T>C)
c.1950-28T>C (n.1950-28T>C)
c.1890-28T>C (n.1890-28T>C)
c.1905-28T>C (n.1905-28T>C)
c.2067-28T>C (n.2067-28T>C)
c.2148-28T>C (n.2148-28T>C)
c.*167-28T>C (n.*167-28T>C)
n.612-28T>C
c.2388-28T>C (n.2388-28T>C)
c.1962-28T>C (n.1962-28T>C)
c.1986-28T>C (n.1986-28T>C)
n.2117-28T>C
c.2382-28T>C (n.2382-28T>C)
n.2562-28T>C
n.2542-28T>C
c.2034-28T>C (n.2034-28T>C)
n.2527-28T>C
 dbSNP gnomAD v3 gnomAD v4
20g.3229039A>TCA634329263SLC4A11c.2019-28T>A (n.2019-28T>A)
c.1950-28T>A (n.1950-28T>A)
c.1890-28T>A (n.1890-28T>A)
c.1905-28T>A (n.1905-28T>A)
c.2067-28T>A (n.2067-28T>A)
c.2148-28T>A (n.2148-28T>A)
c.*167-28T>A (n.*167-28T>A)
n.612-28T>A
c.2388-28T>A (n.2388-28T>A)
c.1962-28T>A (n.1962-28T>A)
c.1986-28T>A (n.1986-28T>A)
n.2117-28T>A
c.2382-28T>A (n.2382-28T>A)
n.2562-28T>A
n.2542-28T>A
c.2034-28T>A (n.2034-28T>A)
n.2527-28T>A
 dbSNP gnomAD v2 gnomAD v4
20g.3229040G>ACA9741615SLC4A11c.2019-29C>T (n.2019-29C>T)
c.1950-29C>T (n.1950-29C>T)
c.1890-29C>T (n.1890-29C>T)
c.1905-29C>T (n.1905-29C>T)
c.2067-29C>T (n.2067-29C>T)
c.2148-29C>T (n.2148-29C>T)
c.*167-29C>T (n.*167-29C>T)
n.612-29C>T
c.2388-29C>T (n.2388-29C>T)
c.1962-29C>T (n.1962-29C>T)
c.1986-29C>T (n.1986-29C>T)
n.2117-29C>T
c.2382-29C>T (n.2382-29C>T)
n.2562-29C>T
n.2542-29C>T
c.2034-29C>T (n.2034-29C>T)
n.2527-29C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.3229040G=CA2346475298SLC4A11c.2019-29C= (n.2019-29C=)
c.1950-29C= (n.1950-29C=)
c.1890-29C= (n.1890-29C=)
c.1905-29C= (n.1905-29C=)
c.2067-29C= (n.2067-29C=)
c.2148-29C= (n.2148-29C=)
c.*167-29C= (n.*167-29C=)
n.612-29C=
c.2388-29C= (n.2388-29C=)
c.1962-29C= (n.1962-29C=)
c.1986-29C= (n.1986-29C=)
n.2117-29C=
c.2382-29C= (n.2382-29C=)
n.2562-29C=
n.2542-29C=
c.2034-29C= (n.2034-29C=)
n.2527-29C=
20g.3229041C>ACA2651691274SLC4A11c.2019-30G>T (n.2019-30G>T)
c.1950-30G>T (n.1950-30G>T)
c.1890-30G>T (n.1890-30G>T)
c.1905-30G>T (n.1905-30G>T)
c.2067-30G>T (n.2067-30G>T)
c.2148-30G>T (n.2148-30G>T)
c.*167-30G>T (n.*167-30G>T)
n.612-30G>T
c.2388-30G>T (n.2388-30G>T)
c.1962-30G>T (n.1962-30G>T)
c.1986-30G>T (n.1986-30G>T)
n.2117-30G>T
c.2382-30G>T (n.2382-30G>T)
n.2562-30G>T
n.2542-30G>T
c.2034-30G>T (n.2034-30G>T)
n.2527-30G>T
 gnomAD v4
20g.3229041C>TCA2651691275SLC4A11c.2019-30G>A (n.2019-30G>A)
c.1950-30G>A (n.1950-30G>A)
c.1890-30G>A (n.1890-30G>A)
c.1905-30G>A (n.1905-30G>A)
c.2067-30G>A (n.2067-30G>A)
c.2148-30G>A (n.2148-30G>A)
c.*167-30G>A (n.*167-30G>A)
n.612-30G>A
c.2388-30G>A (n.2388-30G>A)
c.1962-30G>A (n.1962-30G>A)
c.1986-30G>A (n.1986-30G>A)
n.2117-30G>A
c.2382-30G>A (n.2382-30G>A)
n.2562-30G>A
n.2542-30G>A
c.2034-30G>A (n.2034-30G>A)
n.2527-30G>A
 gnomAD v4
20g.3229043C=CA2346475299SLC4A11c.2019-32G= (n.2019-32G=)
c.1950-32G= (n.1950-32G=)
c.1890-32G= (n.1890-32G=)
c.1905-32G= (n.1905-32G=)
c.2067-32G= (n.2067-32G=)
c.2148-32G= (n.2148-32G=)
c.*167-32G= (n.*167-32G=)
n.612-32G=
c.2388-32G= (n.2388-32G=)
c.1962-32G= (n.1962-32G=)
c.1986-32G= (n.1986-32G=)
n.2117-32G=
c.2382-32G= (n.2382-32G=)
n.2562-32G=
n.2542-32G=
c.2034-32G= (n.2034-32G=)
n.2527-32G=
20g.3229043C>TCA634329264SLC4A11c.2019-32G>A (n.2019-32G>A)
c.1950-32G>A (n.1950-32G>A)
c.1890-32G>A (n.1890-32G>A)
c.1905-32G>A (n.1905-32G>A)
c.2067-32G>A (n.2067-32G>A)
c.2148-32G>A (n.2148-32G>A)
c.*167-32G>A (n.*167-32G>A)
n.612-32G>A
c.2388-32G>A (n.2388-32G>A)
c.1962-32G>A (n.1962-32G>A)
c.1986-32G>A (n.1986-32G>A)
n.2117-32G>A
c.2382-32G>A (n.2382-32G>A)
n.2562-32G>A
n.2542-32G>A
c.2034-32G>A (n.2034-32G>A)
n.2527-32G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.3229044C>ACA9741617SLC4A11c.2019-33G>T (n.2019-33G>T)
c.1950-33G>T (n.1950-33G>T)
c.1890-33G>T (n.1890-33G>T)
c.1905-33G>T (n.1905-33G>T)
c.2067-33G>T (n.2067-33G>T)
c.2148-33G>T (n.2148-33G>T)
c.*167-33G>T (n.*167-33G>T)
n.612-33G>T
c.2388-33G>T (n.2388-33G>T)
c.1962-33G>T (n.1962-33G>T)
c.1986-33G>T (n.1986-33G>T)
n.2117-33G>T
c.2382-33G>T (n.2382-33G>T)
n.2562-33G>T
n.2542-33G>T
c.2034-33G>T (n.2034-33G>T)
n.2527-33G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229044C=CA2346475300SLC4A11c.2019-33G= (n.2019-33G=)
c.1950-33G= (n.1950-33G=)
c.1890-33G= (n.1890-33G=)
c.1905-33G= (n.1905-33G=)
c.2067-33G= (n.2067-33G=)
c.2148-33G= (n.2148-33G=)
c.*167-33G= (n.*167-33G=)
n.612-33G=
c.2388-33G= (n.2388-33G=)
c.1962-33G= (n.1962-33G=)
c.1986-33G= (n.1986-33G=)
n.2117-33G=
c.2382-33G= (n.2382-33G=)
n.2562-33G=
n.2542-33G=
c.2034-33G= (n.2034-33G=)
n.2527-33G=
20g.3229044C>TCA9741616SLC4A11c.2019-33G>A (n.2019-33G>A)
c.1950-33G>A (n.1950-33G>A)
c.1890-33G>A (n.1890-33G>A)
c.1905-33G>A (n.1905-33G>A)
c.2067-33G>A (n.2067-33G>A)
c.2148-33G>A (n.2148-33G>A)
c.*167-33G>A (n.*167-33G>A)
n.612-33G>A
c.2388-33G>A (n.2388-33G>A)
c.1962-33G>A (n.1962-33G>A)
c.1986-33G>A (n.1986-33G>A)
n.2117-33G>A
c.2382-33G>A (n.2382-33G>A)
n.2562-33G>A
n.2542-33G>A
c.2034-33G>A (n.2034-33G>A)
n.2527-33G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229046C>TCA2577323920SLC4A11c.2019-35G>A (n.2019-35G>A)
c.1950-35G>A (n.1950-35G>A)
c.1890-35G>A (n.1890-35G>A)
c.1905-35G>A (n.1905-35G>A)
c.2067-35G>A (n.2067-35G>A)
c.2148-35G>A (n.2148-35G>A)
c.*167-35G>A (n.*167-35G>A)
n.612-35G>A
c.2388-35G>A (n.2388-35G>A)
c.1962-35G>A (n.1962-35G>A)
c.1986-35G>A (n.1986-35G>A)
n.2117-35G>A
c.2382-35G>A (n.2382-35G>A)
n.2562-35G>A
n.2542-35G>A
c.2034-35G>A (n.2034-35G>A)
n.2527-35G>A
20g.3229047A=CA2346475301SLC4A11c.2019-36T= (n.2019-36T=)
c.1950-36T= (n.1950-36T=)
c.1890-36T= (n.1890-36T=)
c.1905-36T= (n.1905-36T=)
c.2067-36T= (n.2067-36T=)
c.2148-36T= (n.2148-36T=)
c.*167-36T= (n.*167-36T=)
n.612-36T=
c.2388-36T= (n.2388-36T=)
c.1962-36T= (n.1962-36T=)
c.1986-36T= (n.1986-36T=)
n.2117-36T=
c.2382-36T= (n.2382-36T=)
n.2562-36T=
n.2542-36T=
c.2034-36T= (n.2034-36T=)
n.2527-36T=
20g.3229047A>TCA634329265SLC4A11c.2019-36T>A (n.2019-36T>A)
c.1950-36T>A (n.1950-36T>A)
c.1890-36T>A (n.1890-36T>A)
c.1905-36T>A (n.1905-36T>A)
c.2067-36T>A (n.2067-36T>A)
c.2148-36T>A (n.2148-36T>A)
c.*167-36T>A (n.*167-36T>A)
n.612-36T>A
c.2388-36T>A (n.2388-36T>A)
c.1962-36T>A (n.1962-36T>A)
c.1986-36T>A (n.1986-36T>A)
n.2117-36T>A
c.2382-36T>A (n.2382-36T>A)
n.2562-36T>A
n.2542-36T>A
c.2034-36T>A (n.2034-36T>A)
n.2527-36T>A
 dbSNP gnomAD v2 gnomAD v4
20g.3229048G>ACA743604270SLC4A11c.2019-37C>T (n.2019-37C>T)
c.1950-37C>T (n.1950-37C>T)
c.1890-37C>T (n.1890-37C>T)
c.1905-37C>T (n.1905-37C>T)
c.2067-37C>T (n.2067-37C>T)
c.2148-37C>T (n.2148-37C>T)
c.*167-37C>T (n.*167-37C>T)
n.612-37C>T
c.2388-37C>T (n.2388-37C>T)
c.1962-37C>T (n.1962-37C>T)
c.1986-37C>T (n.1986-37C>T)
n.2117-37C>T
c.2382-37C>T (n.2382-37C>T)
n.2562-37C>T
n.2542-37C>T
c.2034-37C>T (n.2034-37C>T)
n.2527-37C>T
 dbSNP gnomAD v3 gnomAD v4
20g.3229048G>CCA2651691276SLC4A11c.2019-37C>G (n.2019-37C>G)
c.1950-37C>G (n.1950-37C>G)
c.1890-37C>G (n.1890-37C>G)
c.1905-37C>G (n.1905-37C>G)
c.2067-37C>G (n.2067-37C>G)
c.2148-37C>G (n.2148-37C>G)
c.*167-37C>G (n.*167-37C>G)
n.612-37C>G
c.2388-37C>G (n.2388-37C>G)
c.1962-37C>G (n.1962-37C>G)
c.1986-37C>G (n.1986-37C>G)
n.2117-37C>G
c.2382-37C>G (n.2382-37C>G)
n.2562-37C>G
n.2542-37C>G
c.2034-37C>G (n.2034-37C>G)
n.2527-37C>G
 gnomAD v4
20g.3229048G=CA2346475302SLC4A11c.2019-37C= (n.2019-37C=)
c.1950-37C= (n.1950-37C=)
c.1890-37C= (n.1890-37C=)
c.1905-37C= (n.1905-37C=)
c.2067-37C= (n.2067-37C=)
c.2148-37C= (n.2148-37C=)
c.*167-37C= (n.*167-37C=)
n.612-37C=
c.2388-37C= (n.2388-37C=)
c.1962-37C= (n.1962-37C=)
c.1986-37C= (n.1986-37C=)
n.2117-37C=
c.2382-37C= (n.2382-37C=)
n.2562-37C=
n.2542-37C=
c.2034-37C= (n.2034-37C=)
n.2527-37C=
20g.3229049C>ACA2651691277SLC4A11c.2019-38G>T (n.2019-38G>T)
c.1950-38G>T (n.1950-38G>T)
c.1890-38G>T (n.1890-38G>T)
c.1905-38G>T (n.1905-38G>T)
c.2067-38G>T (n.2067-38G>T)
c.2148-38G>T (n.2148-38G>T)
c.*167-38G>T (n.*167-38G>T)
n.612-38G>T
c.2388-38G>T (n.2388-38G>T)
c.1962-38G>T (n.1962-38G>T)
c.1986-38G>T (n.1986-38G>T)
n.2117-38G>T
c.2382-38G>T (n.2382-38G>T)
n.2562-38G>T
n.2542-38G>T
c.2034-38G>T (n.2034-38G>T)
n.2527-38G>T
 gnomAD v4
20g.3229050A=CA2346475303SLC4A11c.2019-39T= (n.2019-39T=)
c.1950-39T= (n.1950-39T=)
c.1890-39T= (n.1890-39T=)
c.1905-39T= (n.1905-39T=)
c.2067-39T= (n.2067-39T=)
c.2148-39T= (n.2148-39T=)
c.*167-39T= (n.*167-39T=)
n.612-39T=
c.2388-39T= (n.2388-39T=)
c.1962-39T= (n.1962-39T=)
c.1986-39T= (n.1986-39T=)
n.2117-39T=
c.2382-39T= (n.2382-39T=)
n.2562-39T=
n.2542-39T=
c.2034-39T= (n.2034-39T=)
n.2527-39T=
20g.3229050A>GCA2346475304SLC4A11c.2019-39T>C (n.2019-39T>C)
c.1950-39T>C (n.1950-39T>C)
c.1890-39T>C (n.1890-39T>C)
c.1905-39T>C (n.1905-39T>C)
c.2067-39T>C (n.2067-39T>C)
c.2148-39T>C (n.2148-39T>C)
c.*167-39T>C (n.*167-39T>C)
n.612-39T>C
c.2388-39T>C (n.2388-39T>C)
c.1962-39T>C (n.1962-39T>C)
c.1986-39T>C (n.1986-39T>C)
n.2117-39T>C
c.2382-39T>C (n.2382-39T>C)
n.2562-39T>C
n.2542-39T>C
c.2034-39T>C (n.2034-39T>C)
n.2527-39T>C
 dbSNP
20g.3229051G>CCA2577323921SLC4A11c.2019-40C>G (n.2019-40C>G)
c.1950-40C>G (n.1950-40C>G)
c.1890-40C>G (n.1890-40C>G)
c.1905-40C>G (n.1905-40C>G)
c.2067-40C>G (n.2067-40C>G)
c.2148-40C>G (n.2148-40C>G)
c.*167-40C>G (n.*167-40C>G)
n.612-40C>G
c.2388-40C>G (n.2388-40C>G)
c.1962-40C>G (n.1962-40C>G)
c.1986-40C>G (n.1986-40C>G)
n.2117-40C>G
c.2382-40C>G (n.2382-40C>G)
n.2562-40C>G
n.2542-40C>G
c.2034-40C>G (n.2034-40C>G)
n.2527-40C>G
20g.3229051G>TCA2651691278SLC4A11c.2019-40C>A (n.2019-40C>A)
c.1950-40C>A (n.1950-40C>A)
c.1890-40C>A (n.1890-40C>A)
c.1905-40C>A (n.1905-40C>A)
c.2067-40C>A (n.2067-40C>A)
c.2148-40C>A (n.2148-40C>A)
c.*167-40C>A (n.*167-40C>A)
n.612-40C>A
c.2388-40C>A (n.2388-40C>A)
c.1962-40C>A (n.1962-40C>A)
c.1986-40C>A (n.1986-40C>A)
n.2117-40C>A
c.2382-40C>A (n.2382-40C>A)
n.2562-40C>A
n.2542-40C>A
c.2034-40C>A (n.2034-40C>A)
n.2527-40C>A
 gnomAD v4
20g.3229060_3229061insGGGCCCCCCCCCCCCACCCCCCCCCCCCCCCCAGGCCCGGGCA2651691280SLC4A11c.2019-41_2019-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.2019-41_2019-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
c.1950-41_1950-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.1950-41_1950-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
c.1890-41_1890-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.1890-41_1890-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
c.1905-41_1905-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.1905-41_1905-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
c.2067-41_2067-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.2067-41_2067-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
c.2148-41_2148-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.2148-41_2148-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
c.*167-41_*167-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.*167-41_*167-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
n.612-41_612-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT
c.2388-41_2388-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.2388-41_2388-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
c.1962-41_1962-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.1962-41_1962-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
c.1986-41_1986-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.1986-41_1986-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
n.2117-41_2117-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT
c.2382-41_2382-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.2382-41_2382-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
n.2562-41_2562-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT
n.2542-41_2542-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT
c.2034-41_2034-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT (n.2034-41_2034-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT)
n.2527-41_2527-40insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGCCCCCCGGGCCT
 gnomAD v4
20g.3229060_3229061insGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAGGCCCGGGCA2651691279SLC4A11c.2019-41_2019-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2019-41_2019-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1950-41_1950-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1950-41_1950-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1890-41_1890-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1890-41_1890-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1905-41_1905-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1905-41_1905-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.2067-41_2067-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2067-41_2067-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.2148-41_2148-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2148-41_2148-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.*167-41_*167-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.*167-41_*167-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
n.612-41_612-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
c.2388-41_2388-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2388-41_2388-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1962-41_1962-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1962-41_1962-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1986-41_1986-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1986-41_1986-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
n.2117-41_2117-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
c.2382-41_2382-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2382-41_2382-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
n.2562-41_2562-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
n.2542-41_2542-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
c.2034-41_2034-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2034-41_2034-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
n.2527-41_2527-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
 gnomAD v4
20g.3229060_3229061insGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAGGCCCGGGCA2815075167SLC4A11c.2019-41_2019-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2019-41_2019-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1950-41_1950-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1950-41_1950-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1890-41_1890-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1890-41_1890-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1905-41_1905-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1905-41_1905-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.2067-41_2067-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2067-41_2067-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.2148-41_2148-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2148-41_2148-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.*167-41_*167-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.*167-41_*167-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
n.612-41_612-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
c.2388-41_2388-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2388-41_2388-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1962-41_1962-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1962-41_1962-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
c.1986-41_1986-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.1986-41_1986-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
n.2117-41_2117-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
c.2382-41_2382-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2382-41_2382-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
n.2562-41_2562-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
n.2542-41_2542-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
c.2034-41_2034-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT (n.2034-41_2034-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT)
n.2527-41_2527-40insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGGCCT
20g.3229052_3229053insCTTCA2511765116SLC4A11c.2019-42_2019-41insAAG (n.2019-42_2019-41insAAG)
c.1950-42_1950-41insAAG (n.1950-42_1950-41insAAG)
c.1890-42_1890-41insAAG (n.1890-42_1890-41insAAG)
c.1905-42_1905-41insAAG (n.1905-42_1905-41insAAG)
c.2067-42_2067-41insAAG (n.2067-42_2067-41insAAG)
c.2148-42_2148-41insAAG (n.2148-42_2148-41insAAG)
c.*167-42_*167-41insAAG (n.*167-42_*167-41insAAG)
n.612-42_612-41insAAG
c.2388-42_2388-41insAAG (n.2388-42_2388-41insAAG)
c.1962-42_1962-41insAAG (n.1962-42_1962-41insAAG)
c.1986-42_1986-41insAAG (n.1986-42_1986-41insAAG)
n.2117-42_2117-41insAAG
c.2382-42_2382-41insAAG (n.2382-42_2382-41insAAG)
n.2562-42_2562-41insAAG
n.2542-42_2542-41insAAG
c.2034-42_2034-41insAAG (n.2034-42_2034-41insAAG)
n.2527-42_2527-41insAAG
20g.3229053G>ACA9741618SLC4A11c.2019-42C>T (n.2019-42C>T)
c.1950-42C>T (n.1950-42C>T)
c.1890-42C>T (n.1890-42C>T)
c.1905-42C>T (n.1905-42C>T)
c.2067-42C>T (n.2067-42C>T)
c.2148-42C>T (n.2148-42C>T)
c.*167-42C>T (n.*167-42C>T)
n.612-42C>T
c.2388-42C>T (n.2388-42C>T)
c.1962-42C>T (n.1962-42C>T)
c.1986-42C>T (n.1986-42C>T)
n.2117-42C>T
c.2382-42C>T (n.2382-42C>T)
n.2562-42C>T
n.2542-42C>T
c.2034-42C>T (n.2034-42C>T)
n.2527-42C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229053G=CA2346475305SLC4A11c.2019-42C= (n.2019-42C=)
c.1950-42C= (n.1950-42C=)
c.1890-42C= (n.1890-42C=)
c.1905-42C= (n.1905-42C=)
c.2067-42C= (n.2067-42C=)
c.2148-42C= (n.2148-42C=)
c.*167-42C= (n.*167-42C=)
n.612-42C=
c.2388-42C= (n.2388-42C=)
c.1962-42C= (n.1962-42C=)
c.1986-42C= (n.1986-42C=)
n.2117-42C=
c.2382-42C= (n.2382-42C=)
n.2562-42C=
n.2542-42C=
c.2034-42C= (n.2034-42C=)
n.2527-42C=
20g.3229054G>ACA2651691282SLC4A11c.2018+41C>T (n.2018+41C>T)
c.1949+41C>T (n.1949+41C>T)
c.1889+41C>T (n.1889+41C>T)
c.1904+41C>T (n.1904+41C>T)
c.2066+41C>T (n.2066+41C>T)
c.2147+41C>T (n.2147+41C>T)
c.*166+41C>T (n.*166+41C>T)
n.611+41C>T
c.2387+41C>T (n.2387+41C>T)
c.1961+41C>T (n.1961+41C>T)
c.1985+41C>T (n.1985+41C>T)
n.2116+41C>T
c.2381+41C>T (n.2381+41C>T)
n.2561+41C>T
n.2541+41C>T
c.2033+41C>T (n.2033+41C>T)
n.2526+41C>T
 gnomAD v4
20g.3229054G>TCA2577323922SLC4A11c.2018+41C>A (n.2018+41C>A)
c.1949+41C>A (n.1949+41C>A)
c.1889+41C>A (n.1889+41C>A)
c.1904+41C>A (n.1904+41C>A)
c.2066+41C>A (n.2066+41C>A)
c.2147+41C>A (n.2147+41C>A)
c.*166+41C>A (n.*166+41C>A)
n.611+41C>A
c.2387+41C>A (n.2387+41C>A)
c.1961+41C>A (n.1961+41C>A)
c.1985+41C>A (n.1985+41C>A)
n.2116+41C>A
c.2381+41C>A (n.2381+41C>A)
n.2561+41C>A
n.2541+41C>A
c.2033+41C>A (n.2033+41C>A)
n.2526+41C>A
20g.3229060_3229061insGGCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCAGAAACCGCCCGGGCA2651691281SLC4A11c.2018+41_2019-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.2018+41_2019-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
c.1949+41_1950-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.1949+41_1950-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
c.1889+41_1890-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.1889+41_1890-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
c.1904+41_1905-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.1904+41_1905-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
c.2066+41_2067-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.2066+41_2067-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
c.2147+41_2148-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.2147+41_2148-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
c.*166+41_*167-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.*166+41_*167-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
n.611+41_612-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC
c.2387+41_2388-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.2387+41_2388-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
c.1961+41_1962-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.1961+41_1962-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
c.1985+41_1986-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.1985+41_1986-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
n.2116+41_2117-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC
c.2381+41_2382-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.2381+41_2382-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
n.2561+41_2562-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC
n.2541+41_2542-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC
c.2033+41_2034-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC (n.2033+41_2034-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC)
n.2526+41_2527-42insGGTTTCTGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCCCCCGGGC
 gnomAD v4
20g.3229054_3229055insTCA2506968396SLC4A11c.2018+40_2018+41insA (n.2018+40_2018+41insA)
c.1949+40_1949+41insA (n.1949+40_1949+41insA)
c.1889+40_1889+41insA (n.1889+40_1889+41insA)
c.1904+40_1904+41insA (n.1904+40_1904+41insA)
c.2066+40_2066+41insA (n.2066+40_2066+41insA)
c.2147+40_2147+41insA (n.2147+40_2147+41insA)
c.*166+40_*166+41insA (n.*166+40_*166+41insA)
n.611+40_611+41insA
c.2387+40_2387+41insA (n.2387+40_2387+41insA)
c.1961+40_1961+41insA (n.1961+40_1961+41insA)
c.1985+40_1985+41insA (n.1985+40_1985+41insA)
n.2116+40_2116+41insA
c.2381+40_2381+41insA (n.2381+40_2381+41insA)
n.2561+40_2561+41insA
n.2541+40_2541+41insA
c.2033+40_2033+41insA (n.2033+40_2033+41insA)
n.2526+40_2526+41insA
20g.3229055C>ACA634329266SLC4A11c.2018+40G>T (n.2018+40G>T)
c.1949+40G>T (n.1949+40G>T)
c.1889+40G>T (n.1889+40G>T)
c.1904+40G>T (n.1904+40G>T)
c.2066+40G>T (n.2066+40G>T)
c.2147+40G>T (n.2147+40G>T)
c.*166+40G>T (n.*166+40G>T)
n.611+40G>T
c.2387+40G>T (n.2387+40G>T)
c.1961+40G>T (n.1961+40G>T)
c.1985+40G>T (n.1985+40G>T)
n.2116+40G>T
c.2381+40G>T (n.2381+40G>T)
n.2561+40G>T
n.2541+40G>T
c.2033+40G>T (n.2033+40G>T)
n.2526+40G>T
 dbSNP gnomAD v2 gnomAD v4
20g.3229055C=CA2346475306SLC4A11c.2018+40G= (n.2018+40G=)
c.1949+40G= (n.1949+40G=)
c.1889+40G= (n.1889+40G=)
c.1904+40G= (n.1904+40G=)
c.2066+40G= (n.2066+40G=)
c.2147+40G= (n.2147+40G=)
c.*166+40G= (n.*166+40G=)
n.611+40G=
c.2387+40G= (n.2387+40G=)
c.1961+40G= (n.1961+40G=)
c.1985+40G= (n.1985+40G=)
n.2116+40G=
c.2381+40G= (n.2381+40G=)
n.2561+40G=
n.2541+40G=
c.2033+40G= (n.2033+40G=)
n.2526+40G=
20g.3229055C>TCA634329267SLC4A11c.2018+40G>A (n.2018+40G>A)
c.1949+40G>A (n.1949+40G>A)
c.1889+40G>A (n.1889+40G>A)
c.1904+40G>A (n.1904+40G>A)
c.2066+40G>A (n.2066+40G>A)
c.2147+40G>A (n.2147+40G>A)
c.*166+40G>A (n.*166+40G>A)
n.611+40G>A
c.2387+40G>A (n.2387+40G>A)
c.1961+40G>A (n.1961+40G>A)
c.1985+40G>A (n.1985+40G>A)
n.2116+40G>A
c.2381+40G>A (n.2381+40G>A)
n.2561+40G>A
n.2541+40G>A
c.2033+40G>A (n.2033+40G>A)
n.2526+40G>A
 dbSNP gnomAD v2 gnomAD v4
20g.3229057dupCA2577323923SLC4A11c.2018+40dup (n.2018+40dup)
c.1949+40dup (n.1949+40dup)
c.1889+40dup (n.1889+40dup)
c.1904+40dup (n.1904+40dup)
c.2066+40dup (n.2066+40dup)
c.2147+40dup (n.2147+40dup)
c.*166+40dup (n.*166+40dup)
n.611+40dup
c.2387+40dup (n.2387+40dup)
c.1961+40dup (n.1961+40dup)
c.1985+40dup (n.1985+40dup)
n.2116+40dup
c.2381+40dup (n.2381+40dup)
n.2561+40dup
n.2541+40dup
c.2033+40dup (n.2033+40dup)
n.2526+40dup
20g.3229060_3229061insGGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGGGCA2651691283SLC4A11c.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.611+40_611+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2116+40_2116+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2561+40_2561+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
n.2541+40_2541+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2526+40_2526+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
 gnomAD v4
20g.3229060_3229061insGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGGGCA2651691289SLC4A11c.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
n.611+40_611+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
c.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
n.2116+40_2116+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
c.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
n.2561+40_2561+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
n.2541+40_2541+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
c.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
n.2526+40_2526+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
 gnomAD v4
20g.3229060_3229061insGGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGGGCA2651691286SLC4A11c.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.611+40_611+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2116+40_2116+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2561+40_2561+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
n.2541+40_2541+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2526+40_2526+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
 gnomAD v4
20g.3229060_3229061insGGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGGGCA2651691287SLC4A11c.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.611+40_611+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2116+40_2116+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2561+40_2561+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
n.2541+40_2541+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2526+40_2526+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
 gnomAD v4
20g.3229060_3229061insGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGGGCA2651691288SLC4A11c.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
n.611+40_611+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
c.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
c.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
n.2116+40_2116+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
c.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
n.2561+40_2561+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
n.2541+40_2541+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
c.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG)
n.2526+40_2526+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGG
 gnomAD v4
20g.3229060_3229061insGGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGGGCA2651691284SLC4A11c.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2018+40_2018+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1949+40_1949+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1889+40_1889+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1904+40_1904+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2066+40_2066+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2147+40_2147+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.*166+40_*166+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.611+40_611+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2387+40_2387+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1961+40_1961+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1985+40_1985+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2116+40_2116+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2381+40_2381+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2561+40_2561+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
n.2541+40_2541+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2033+40_2033+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2526+40_2526+41insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
 gnomAD v4
20g.3229060_3229061insGGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAGCCCCCCCCCGGGCA2651691285SLC4A11c.2018+40_2018+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2018+40_2018+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1949+40_1949+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1949+40_1949+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1889+40_1889+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1889+40_1889+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1904+40_1904+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1904+40_1904+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2066+40_2066+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2066+40_2066+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.2147+40_2147+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2147+40_2147+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.*166+40_*166+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.*166+40_*166+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.611+40_611+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2387+40_2387+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2387+40_2387+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1961+40_1961+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1961+40_1961+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
c.1985+40_1985+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.1985+40_1985+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2116+40_2116+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2381+40_2381+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2381+40_2381+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2561+40_2561+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
n.2541+40_2541+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
c.2033+40_2033+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.2033+40_2033+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG)
n.2526+40_2526+41insGGGGGGCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGGG
 gnomAD v4
20g.3229056C>ACA2651691291SLC4A11c.2018+39G>T (n.2018+39G>T)
c.1949+39G>T (n.1949+39G>T)
c.1889+39G>T (n.1889+39G>T)
c.1904+39G>T (n.1904+39G>T)
c.2066+39G>T (n.2066+39G>T)
c.2147+39G>T (n.2147+39G>T)
c.*166+39G>T (n.*166+39G>T)
n.611+39G>T
c.2387+39G>T (n.2387+39G>T)
c.1961+39G>T (n.1961+39G>T)
c.1985+39G>T (n.1985+39G>T)
n.2116+39G>T
c.2381+39G>T (n.2381+39G>T)
n.2561+39G>T
n.2541+39G>T
c.2033+39G>T (n.2033+39G>T)
n.2526+39G>T
 gnomAD v4
20g.3229060_3229061insGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCGGGCA2651691290SLC4A11c.2018+39_2018+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.2018+39_2018+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
c.1949+39_1949+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.1949+39_1949+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
c.1889+39_1889+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.1889+39_1889+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
c.1904+39_1904+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.1904+39_1904+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
c.2066+39_2066+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.2066+39_2066+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
c.2147+39_2147+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.2147+39_2147+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
c.*166+39_*166+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.*166+39_*166+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
n.611+39_611+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG
c.2387+39_2387+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.2387+39_2387+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
c.1961+39_1961+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.1961+39_1961+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
c.1985+39_1985+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.1985+39_1985+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
n.2116+39_2116+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG
c.2381+39_2381+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.2381+39_2381+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
n.2561+39_2561+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG
n.2541+39_2541+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG
c.2033+39_2033+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.2033+39_2033+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG)
n.2526+39_2526+40insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG
 gnomAD v4
20g.3229057C>ACA2651691293SLC4A11c.2018+38G>T (n.2018+38G>T)
c.1949+38G>T (n.1949+38G>T)
c.1889+38G>T (n.1889+38G>T)
c.1904+38G>T (n.1904+38G>T)
c.2066+38G>T (n.2066+38G>T)
c.2147+38G>T (n.2147+38G>T)
c.*166+38G>T (n.*166+38G>T)
n.611+38G>T
c.2387+38G>T (n.2387+38G>T)
c.1961+38G>T (n.1961+38G>T)
c.1985+38G>T (n.1985+38G>T)
n.2116+38G>T
c.2381+38G>T (n.2381+38G>T)
n.2561+38G>T
n.2541+38G>T
c.2033+38G>T (n.2033+38G>T)
n.2526+38G>T
 gnomAD v4
20g.3229057C=CA2346475307SLC4A11c.2018+38G= (n.2018+38G=)
c.1949+38G= (n.1949+38G=)
c.1889+38G= (n.1889+38G=)
c.1904+38G= (n.1904+38G=)
c.2066+38G= (n.2066+38G=)
c.2147+38G= (n.2147+38G=)
c.*166+38G= (n.*166+38G=)
n.611+38G=
c.2387+38G= (n.2387+38G=)
c.1961+38G= (n.1961+38G=)
c.1985+38G= (n.1985+38G=)
n.2116+38G=
c.2381+38G= (n.2381+38G=)
n.2561+38G=
n.2541+38G=
c.2033+38G= (n.2033+38G=)
n.2526+38G=
20g.3229057C>TCA9741620SLC4A11c.2018+38G>A (n.2018+38G>A)
c.1949+38G>A (n.1949+38G>A)
c.1889+38G>A (n.1889+38G>A)
c.1904+38G>A (n.1904+38G>A)
c.2066+38G>A (n.2066+38G>A)
c.2147+38G>A (n.2147+38G>A)
c.*166+38G>A (n.*166+38G>A)
n.611+38G>A
c.2387+38G>A (n.2387+38G>A)
c.1961+38G>A (n.1961+38G>A)
c.1985+38G>A (n.1985+38G>A)
n.2116+38G>A
c.2381+38G>A (n.2381+38G>A)
n.2561+38G>A
n.2541+38G>A
c.2033+38G>A (n.2033+38G>A)
n.2526+38G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229060_3229061insGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAGATTTGGCAGTGAATCACAAGACTGGGGCACGGGCA2651691292SLC4A11c.2018+38_2018+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.2018+38_2018+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
c.1949+38_1949+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.1949+38_1949+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
c.1889+38_1889+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.1889+38_1889+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
c.1904+38_1904+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.1904+38_1904+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
c.2066+38_2066+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.2066+38_2066+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
c.2147+38_2147+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.2147+38_2147+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
c.*166+38_*166+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.*166+38_*166+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
n.611+38_611+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG
c.2387+38_2387+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.2387+38_2387+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
c.1961+38_1961+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.1961+38_1961+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
c.1985+38_1985+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.1985+38_1985+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
n.2116+38_2116+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG
c.2381+38_2381+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.2381+38_2381+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
n.2561+38_2561+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG
n.2541+38_2541+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG
c.2033+38_2033+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG (n.2033+38_2033+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG)
n.2526+38_2526+39insTGCCCCAGTCTTGTGATTCACTGCCAAATCTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCG
 gnomAD v4
20g.3229057_3229058insACA2651691299SLC4A11c.2018+37_2018+38insT (n.2018+37_2018+38insT)
c.1949+37_1949+38insT (n.1949+37_1949+38insT)
c.1889+37_1889+38insT (n.1889+37_1889+38insT)
c.1904+37_1904+38insT (n.1904+37_1904+38insT)
c.2066+37_2066+38insT (n.2066+37_2066+38insT)
c.2147+37_2147+38insT (n.2147+37_2147+38insT)
c.*166+37_*166+38insT (n.*166+37_*166+38insT)
n.611+37_611+38insT
c.2387+37_2387+38insT (n.2387+37_2387+38insT)
c.1961+37_1961+38insT (n.1961+37_1961+38insT)
c.1985+37_1985+38insT (n.1985+37_1985+38insT)
n.2116+37_2116+38insT
c.2381+37_2381+38insT (n.2381+37_2381+38insT)
n.2561+37_2561+38insT
n.2541+37_2541+38insT
c.2033+37_2033+38insT (n.2033+37_2033+38insT)
n.2526+37_2526+38insT
 gnomAD v4
20g.3229057_3229058insCGCA2815075168SLC4A11c.2018+37_2018+38insCG (n.2018+37_2018+38insCG)
c.1949+37_1949+38insCG (n.1949+37_1949+38insCG)
c.1889+37_1889+38insCG (n.1889+37_1889+38insCG)
c.1904+37_1904+38insCG (n.1904+37_1904+38insCG)
c.2066+37_2066+38insCG (n.2066+37_2066+38insCG)
c.2147+37_2147+38insCG (n.2147+37_2147+38insCG)
c.*166+37_*166+38insCG (n.*166+37_*166+38insCG)
n.611+37_611+38insCG
c.2387+37_2387+38insCG (n.2387+37_2387+38insCG)
c.1961+37_1961+38insCG (n.1961+37_1961+38insCG)
c.1985+37_1985+38insCG (n.1985+37_1985+38insCG)
n.2116+37_2116+38insCG
c.2381+37_2381+38insCG (n.2381+37_2381+38insCG)
n.2561+37_2561+38insCG
n.2541+37_2541+38insCG
c.2033+37_2033+38insCG (n.2033+37_2033+38insCG)
n.2526+37_2526+38insCG
20g.3229058G>ACA9741621SLC4A11c.2018+37C>T (n.2018+37C>T)
c.1949+37C>T (n.1949+37C>T)
c.1889+37C>T (n.1889+37C>T)
c.1904+37C>T (n.1904+37C>T)
c.2066+37C>T (n.2066+37C>T)
c.2147+37C>T (n.2147+37C>T)
c.*166+37C>T (n.*166+37C>T)
n.611+37C>T
c.2387+37C>T (n.2387+37C>T)
c.1961+37C>T (n.1961+37C>T)
c.1985+37C>T (n.1985+37C>T)
n.2116+37C>T
c.2381+37C>T (n.2381+37C>T)
n.2561+37C>T
n.2541+37C>T
c.2033+37C>T (n.2033+37C>T)
n.2526+37C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229058G>CCA2651691295SLC4A11c.2018+37C>G (n.2018+37C>G)
c.1949+37C>G (n.1949+37C>G)
c.1889+37C>G (n.1889+37C>G)
c.1904+37C>G (n.1904+37C>G)
c.2066+37C>G (n.2066+37C>G)
c.2147+37C>G (n.2147+37C>G)
c.*166+37C>G (n.*166+37C>G)
n.611+37C>G
c.2387+37C>G (n.2387+37C>G)
c.1961+37C>G (n.1961+37C>G)
c.1985+37C>G (n.1985+37C>G)
n.2116+37C>G
c.2381+37C>G (n.2381+37C>G)
n.2561+37C>G
n.2541+37C>G
c.2033+37C>G (n.2033+37C>G)
n.2526+37C>G
 gnomAD v4
20g.3229058G=CA2346475308SLC4A11c.2018+37C= (n.2018+37C=)
c.1949+37C= (n.1949+37C=)
c.1889+37C= (n.1889+37C=)
c.1904+37C= (n.1904+37C=)
c.2066+37C= (n.2066+37C=)
c.2147+37C= (n.2147+37C=)
c.*166+37C= (n.*166+37C=)
n.611+37C=
c.2387+37C= (n.2387+37C=)
c.1961+37C= (n.1961+37C=)
c.1985+37C= (n.1985+37C=)
n.2116+37C=
c.2381+37C= (n.2381+37C=)
n.2561+37C=
n.2541+37C=
c.2033+37C= (n.2033+37C=)
n.2526+37C=
20g.3229058G>TCA2651691294SLC4A11c.2018+37C>A (n.2018+37C>A)
c.1949+37C>A (n.1949+37C>A)
c.1889+37C>A (n.1889+37C>A)
c.1904+37C>A (n.1904+37C>A)
c.2066+37C>A (n.2066+37C>A)
c.2147+37C>A (n.2147+37C>A)
c.*166+37C>A (n.*166+37C>A)
n.611+37C>A
c.2387+37C>A (n.2387+37C>A)
c.1961+37C>A (n.1961+37C>A)
c.1985+37C>A (n.1985+37C>A)
n.2116+37C>A
c.2381+37C>A (n.2381+37C>A)
n.2561+37C>A
n.2541+37C>A
c.2033+37C>A (n.2033+37C>A)
n.2526+37C>A
 gnomAD v4
20g.3229060_3229061insGGGGCA2651691298SLC4A11c.2018+37_2018+38insCCCC (n.2018+37_2018+38insCCCC)
c.1949+37_1949+38insCCCC (n.1949+37_1949+38insCCCC)
c.1889+37_1889+38insCCCC (n.1889+37_1889+38insCCCC)
c.1904+37_1904+38insCCCC (n.1904+37_1904+38insCCCC)
c.2066+37_2066+38insCCCC (n.2066+37_2066+38insCCCC)
c.2147+37_2147+38insCCCC (n.2147+37_2147+38insCCCC)
c.*166+37_*166+38insCCCC (n.*166+37_*166+38insCCCC)
n.611+37_611+38insCCCC
c.2387+37_2387+38insCCCC (n.2387+37_2387+38insCCCC)
c.1961+37_1961+38insCCCC (n.1961+37_1961+38insCCCC)
c.1985+37_1985+38insCCCC (n.1985+37_1985+38insCCCC)
n.2116+37_2116+38insCCCC
c.2381+37_2381+38insCCCC (n.2381+37_2381+38insCCCC)
n.2561+37_2561+38insCCCC
n.2541+37_2541+38insCCCC
c.2033+37_2033+38insCCCC (n.2033+37_2033+38insCCCC)
n.2526+37_2526+38insCCCC
 dbSNP gnomAD v4
20g.3229060_3229061insGGGGGCA2651691297SLC4A11c.2018+37_2018+38insCCCCC (n.2018+37_2018+38insCCCCC)
c.1949+37_1949+38insCCCCC (n.1949+37_1949+38insCCCCC)
c.1889+37_1889+38insCCCCC (n.1889+37_1889+38insCCCCC)
c.1904+37_1904+38insCCCCC (n.1904+37_1904+38insCCCCC)
c.2066+37_2066+38insCCCCC (n.2066+37_2066+38insCCCCC)
c.2147+37_2147+38insCCCCC (n.2147+37_2147+38insCCCCC)
c.*166+37_*166+38insCCCCC (n.*166+37_*166+38insCCCCC)
n.611+37_611+38insCCCCC
c.2387+37_2387+38insCCCCC (n.2387+37_2387+38insCCCCC)
c.1961+37_1961+38insCCCCC (n.1961+37_1961+38insCCCCC)
c.1985+37_1985+38insCCCCC (n.1985+37_1985+38insCCCCC)
n.2116+37_2116+38insCCCCC
c.2381+37_2381+38insCCCCC (n.2381+37_2381+38insCCCCC)
n.2561+37_2561+38insCCCCC
n.2541+37_2541+38insCCCCC
c.2033+37_2033+38insCCCCC (n.2033+37_2033+38insCCCCC)
n.2526+37_2526+38insCCCCC
 gnomAD v4
20g.3229060_3229061insGGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAGGGCA2651691296SLC4A11c.2018+37_2018+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.2018+37_2018+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
c.1949+37_1949+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.1949+37_1949+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
c.1889+37_1889+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.1889+37_1889+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
c.1904+37_1904+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.1904+37_1904+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
c.2066+37_2066+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.2066+37_2066+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
c.2147+37_2147+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.2147+37_2147+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
c.*166+37_*166+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.*166+37_*166+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
n.611+37_611+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC
c.2387+37_2387+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.2387+37_2387+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
c.1961+37_1961+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.1961+37_1961+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
c.1985+37_1985+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.1985+37_1985+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
n.2116+37_2116+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC
c.2381+37_2381+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.2381+37_2381+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
n.2561+37_2561+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC
n.2541+37_2541+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC
c.2033+37_2033+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.2033+37_2033+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC)
n.2526+37_2526+38insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCC
 gnomAD v4
20g.3229060dupCA9741619SLC4A11c.2018+37dup (n.2018+37dup)
c.1949+37dup (n.1949+37dup)
c.1889+37dup (n.1889+37dup)
c.1904+37dup (n.1904+37dup)
c.2066+37dup (n.2066+37dup)
c.2147+37dup (n.2147+37dup)
c.*166+37dup (n.*166+37dup)
n.611+37dup
c.2387+37dup (n.2387+37dup)
c.1961+37dup (n.1961+37dup)
c.1985+37dup (n.1985+37dup)
n.2116+37dup
c.2381+37dup (n.2381+37dup)
n.2561+37dup
n.2541+37dup
c.2033+37dup (n.2033+37dup)
n.2526+37dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.3229059_3229060dupCA1014837275SLC4A11c.2018+36_2018+37dup (n.2018+36_2018+37dup)
c.1949+36_1949+37dup (n.1949+36_1949+37dup)
c.1889+36_1889+37dup (n.1889+36_1889+37dup)
c.1904+36_1904+37dup (n.1904+36_1904+37dup)
c.2066+36_2066+37dup (n.2066+36_2066+37dup)
c.2147+36_2147+37dup (n.2147+36_2147+37dup)
c.*166+36_*166+37dup (n.*166+36_*166+37dup)
n.611+36_611+37dup
c.2387+36_2387+37dup (n.2387+36_2387+37dup)
c.1961+36_1961+37dup (n.1961+36_1961+37dup)
c.1985+36_1985+37dup (n.1985+36_1985+37dup)
n.2116+36_2116+37dup
c.2381+36_2381+37dup (n.2381+36_2381+37dup)
n.2561+36_2561+37dup
n.2541+36_2541+37dup
c.2033+36_2033+37dup (n.2033+36_2033+37dup)
n.2526+36_2526+37dup
 dbSNP gnomAD v3 gnomAD v4
20g.3229058_3229060dupCA1014837282SLC4A11c.2018+35_2018+37dup (n.2018+35_2018+37dup)
c.1949+35_1949+37dup (n.1949+35_1949+37dup)
c.1889+35_1889+37dup (n.1889+35_1889+37dup)
c.1904+35_1904+37dup (n.1904+35_1904+37dup)
c.2066+35_2066+37dup (n.2066+35_2066+37dup)
c.2147+35_2147+37dup (n.2147+35_2147+37dup)
c.*166+35_*166+37dup (n.*166+35_*166+37dup)
n.611+35_611+37dup
c.2387+35_2387+37dup (n.2387+35_2387+37dup)
c.1961+35_1961+37dup (n.1961+35_1961+37dup)
c.1985+35_1985+37dup (n.1985+35_1985+37dup)
n.2116+35_2116+37dup
c.2381+35_2381+37dup (n.2381+35_2381+37dup)
n.2561+35_2561+37dup
n.2541+35_2541+37dup
c.2033+35_2033+37dup (n.2033+35_2033+37dup)
n.2526+35_2526+37dup
 dbSNP gnomAD v3 gnomAD v4
20g.3229059G>ACA2815075169SLC4A11c.2018+36C>T (n.2018+36C>T)
c.1949+36C>T (n.1949+36C>T)
c.1889+36C>T (n.1889+36C>T)
c.1904+36C>T (n.1904+36C>T)
c.2066+36C>T (n.2066+36C>T)
c.2147+36C>T (n.2147+36C>T)
c.*166+36C>T (n.*166+36C>T)
n.611+36C>T
c.2387+36C>T (n.2387+36C>T)
c.1961+36C>T (n.1961+36C>T)
c.1985+36C>T (n.1985+36C>T)
n.2116+36C>T
c.2381+36C>T (n.2381+36C>T)
n.2561+36C>T
n.2541+36C>T
c.2033+36C>T (n.2033+36C>T)
n.2526+36C>T
20g.3229059G>TCA2651691300SLC4A11c.2018+36C>A (n.2018+36C>A)
c.1949+36C>A (n.1949+36C>A)
c.1889+36C>A (n.1889+36C>A)
c.1904+36C>A (n.1904+36C>A)
c.2066+36C>A (n.2066+36C>A)
c.2147+36C>A (n.2147+36C>A)
c.*166+36C>A (n.*166+36C>A)
n.611+36C>A
c.2387+36C>A (n.2387+36C>A)
c.1961+36C>A (n.1961+36C>A)
c.1985+36C>A (n.1985+36C>A)
n.2116+36C>A
c.2381+36C>A (n.2381+36C>A)
n.2561+36C>A
n.2541+36C>A
c.2033+36C>A (n.2033+36C>A)
n.2526+36C>A
 gnomAD v4
20g.3229059_3229060insTGCA2651691304SLC4A11c.2018+36_2018+37insAC (n.2018+36_2018+37insAC)
c.1949+36_1949+37insAC (n.1949+36_1949+37insAC)
c.1889+36_1889+37insAC (n.1889+36_1889+37insAC)
c.1904+36_1904+37insAC (n.1904+36_1904+37insAC)
c.2066+36_2066+37insAC (n.2066+36_2066+37insAC)
c.2147+36_2147+37insAC (n.2147+36_2147+37insAC)
c.*166+36_*166+37insAC (n.*166+36_*166+37insAC)
n.611+36_611+37insAC
c.2387+36_2387+37insAC (n.2387+36_2387+37insAC)
c.1961+36_1961+37insAC (n.1961+36_1961+37insAC)
c.1985+36_1985+37insAC (n.1985+36_1985+37insAC)
n.2116+36_2116+37insAC
c.2381+36_2381+37insAC (n.2381+36_2381+37insAC)
n.2561+36_2561+37insAC
n.2541+36_2541+37insAC
c.2033+36_2033+37insAC (n.2033+36_2033+37insAC)
n.2526+36_2526+37insAC
 gnomAD v4
20g.3229060_3229061insGGGGCGGCA2651691302SLC4A11c.2018+36_2018+37insGCCCCCC (n.2018+36_2018+37insGCCCCCC)
c.1949+36_1949+37insGCCCCCC (n.1949+36_1949+37insGCCCCCC)
c.1889+36_1889+37insGCCCCCC (n.1889+36_1889+37insGCCCCCC)
c.1904+36_1904+37insGCCCCCC (n.1904+36_1904+37insGCCCCCC)
c.2066+36_2066+37insGCCCCCC (n.2066+36_2066+37insGCCCCCC)
c.2147+36_2147+37insGCCCCCC (n.2147+36_2147+37insGCCCCCC)
c.*166+36_*166+37insGCCCCCC (n.*166+36_*166+37insGCCCCCC)
n.611+36_611+37insGCCCCCC
c.2387+36_2387+37insGCCCCCC (n.2387+36_2387+37insGCCCCCC)
c.1961+36_1961+37insGCCCCCC (n.1961+36_1961+37insGCCCCCC)
c.1985+36_1985+37insGCCCCCC (n.1985+36_1985+37insGCCCCCC)
n.2116+36_2116+37insGCCCCCC
c.2381+36_2381+37insGCCCCCC (n.2381+36_2381+37insGCCCCCC)
n.2561+36_2561+37insGCCCCCC
n.2541+36_2541+37insGCCCCCC
c.2033+36_2033+37insGCCCCCC (n.2033+36_2033+37insGCCCCCC)
n.2526+36_2526+37insGCCCCCC
 gnomAD v4
20g.3229060_3229061insGGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACACCAGAGCACCTGGCA2651691301SLC4A11c.2018+36_2018+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.2018+36_2018+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
c.1949+36_1949+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.1949+36_1949+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
c.1889+36_1889+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.1889+36_1889+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
c.1904+36_1904+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.1904+36_1904+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
c.2066+36_2066+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.2066+36_2066+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
c.2147+36_2147+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.2147+36_2147+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
c.*166+36_*166+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.*166+36_*166+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
n.611+36_611+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC
c.2387+36_2387+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.2387+36_2387+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
c.1961+36_1961+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.1961+36_1961+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
c.1985+36_1985+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.1985+36_1985+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
n.2116+36_2116+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC
c.2381+36_2381+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.2381+36_2381+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
n.2561+36_2561+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC
n.2541+36_2541+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC
c.2033+36_2033+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.2033+36_2033+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC)
n.2526+36_2526+37insAGGTGCTCTGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC
 gnomAD v4
20g.3229059_3229061dupCA2651691303SLC4A11c.2018+34_2018+36dup (n.2018+34_2018+36dup)
c.1949+34_1949+36dup (n.1949+34_1949+36dup)
c.1889+34_1889+36dup (n.1889+34_1889+36dup)
c.1904+34_1904+36dup (n.1904+34_1904+36dup)
c.2066+34_2066+36dup (n.2066+34_2066+36dup)
c.2147+34_2147+36dup (n.2147+34_2147+36dup)
c.*166+34_*166+36dup (n.*166+34_*166+36dup)
n.611+34_611+36dup
c.2387+34_2387+36dup (n.2387+34_2387+36dup)
c.1961+34_1961+36dup (n.1961+34_1961+36dup)
c.1985+34_1985+36dup (n.1985+34_1985+36dup)
n.2116+34_2116+36dup
c.2381+34_2381+36dup (n.2381+34_2381+36dup)
n.2561+34_2561+36dup
n.2541+34_2541+36dup
c.2033+34_2033+36dup (n.2033+34_2033+36dup)
n.2526+34_2526+36dup
 gnomAD v4
20g.3229060G>ACA2651691305SLC4A11c.2018+35C>T (n.2018+35C>T)
c.1949+35C>T (n.1949+35C>T)
c.1889+35C>T (n.1889+35C>T)
c.1904+35C>T (n.1904+35C>T)
c.2066+35C>T (n.2066+35C>T)
c.2147+35C>T (n.2147+35C>T)
c.*166+35C>T (n.*166+35C>T)
n.611+35C>T
c.2387+35C>T (n.2387+35C>T)
c.1961+35C>T (n.1961+35C>T)
c.1985+35C>T (n.1985+35C>T)
n.2116+35C>T
c.2381+35C>T (n.2381+35C>T)
n.2561+35C>T
n.2541+35C>T
c.2033+35C>T (n.2033+35C>T)
n.2526+35C>T
 gnomAD v4
20g.3229060G>CCA1014837308SLC4A11c.2018+35C>G (n.2018+35C>G)
c.1949+35C>G (n.1949+35C>G)
c.1889+35C>G (n.1889+35C>G)
c.1904+35C>G (n.1904+35C>G)
c.2066+35C>G (n.2066+35C>G)
c.2147+35C>G (n.2147+35C>G)
c.*166+35C>G (n.*166+35C>G)
n.611+35C>G
c.2387+35C>G (n.2387+35C>G)
c.1961+35C>G (n.1961+35C>G)
c.1985+35C>G (n.1985+35C>G)
n.2116+35C>G
c.2381+35C>G (n.2381+35C>G)
n.2561+35C>G
n.2541+35C>G
c.2033+35C>G (n.2033+35C>G)
n.2526+35C>G
 gnomAD v3 gnomAD v4
20g.3229060G=CA2346475309SLC4A11c.2018+35C= (n.2018+35C=)
c.1949+35C= (n.1949+35C=)
c.1889+35C= (n.1889+35C=)
c.1904+35C= (n.1904+35C=)
c.2066+35C= (n.2066+35C=)
c.2147+35C= (n.2147+35C=)
c.*166+35C= (n.*166+35C=)
n.611+35C=
c.2387+35C= (n.2387+35C=)
c.1961+35C= (n.1961+35C=)
c.1985+35C= (n.1985+35C=)
n.2116+35C=
c.2381+35C= (n.2381+35C=)
n.2561+35C=
n.2541+35C=
c.2033+35C= (n.2033+35C=)
n.2526+35C=
20g.3229060G>TCA743604280SLC4A11c.2018+35C>A (n.2018+35C>A)
c.1949+35C>A (n.1949+35C>A)
c.1889+35C>A (n.1889+35C>A)
c.1904+35C>A (n.1904+35C>A)
c.2066+35C>A (n.2066+35C>A)
c.2147+35C>A (n.2147+35C>A)
c.*166+35C>A (n.*166+35C>A)
n.611+35C>A
c.2387+35C>A (n.2387+35C>A)
c.1961+35C>A (n.1961+35C>A)
c.1985+35C>A (n.1985+35C>A)
n.2116+35C>A
c.2381+35C>A (n.2381+35C>A)
n.2561+35C>A
n.2541+35C>A
c.2033+35C>A (n.2033+35C>A)
n.2526+35C>A
 dbSNP gnomAD v4
20g.3229060_3229061insGCGCA2651691311SLC4A11c.2018+35_2018+36insGCC (n.2018+35_2018+36insGCC)
c.1949+35_1949+36insGCC (n.1949+35_1949+36insGCC)
c.1889+35_1889+36insGCC (n.1889+35_1889+36insGCC)
c.1904+35_1904+36insGCC (n.1904+35_1904+36insGCC)
c.2066+35_2066+36insGCC (n.2066+35_2066+36insGCC)
c.2147+35_2147+36insGCC (n.2147+35_2147+36insGCC)
c.*166+35_*166+36insGCC (n.*166+35_*166+36insGCC)
n.611+35_611+36insGCC
c.2387+35_2387+36insGCC (n.2387+35_2387+36insGCC)
c.1961+35_1961+36insGCC (n.1961+35_1961+36insGCC)
c.1985+35_1985+36insGCC (n.1985+35_1985+36insGCC)
n.2116+35_2116+36insGCC
c.2381+35_2381+36insGCC (n.2381+35_2381+36insGCC)
n.2561+35_2561+36insGCC
n.2541+35_2541+36insGCC
c.2033+35_2033+36insGCC (n.2033+35_2033+36insGCC)
n.2526+35_2526+36insGCC
 gnomAD v4
20g.3229060_3229061insGGCGCA2651691310SLC4A11c.2018+35_2018+36insGCCC (n.2018+35_2018+36insGCCC)
c.1949+35_1949+36insGCCC (n.1949+35_1949+36insGCCC)
c.1889+35_1889+36insGCCC (n.1889+35_1889+36insGCCC)
c.1904+35_1904+36insGCCC (n.1904+35_1904+36insGCCC)
c.2066+35_2066+36insGCCC (n.2066+35_2066+36insGCCC)
c.2147+35_2147+36insGCCC (n.2147+35_2147+36insGCCC)
c.*166+35_*166+36insGCCC (n.*166+35_*166+36insGCCC)
n.611+35_611+36insGCCC
c.2387+35_2387+36insGCCC (n.2387+35_2387+36insGCCC)
c.1961+35_1961+36insGCCC (n.1961+35_1961+36insGCCC)
c.1985+35_1985+36insGCCC (n.1985+35_1985+36insGCCC)
n.2116+35_2116+36insGCCC
c.2381+35_2381+36insGCCC (n.2381+35_2381+36insGCCC)
n.2561+35_2561+36insGCCC
n.2541+35_2541+36insGCCC
c.2033+35_2033+36insGCCC (n.2033+35_2033+36insGCCC)
n.2526+35_2526+36insGCCC
 gnomAD v4
20g.3229060_3229061insGGGCGCA2651691309SLC4A11c.2018+35_2018+36insGCCCC (n.2018+35_2018+36insGCCCC)
c.1949+35_1949+36insGCCCC (n.1949+35_1949+36insGCCCC)
c.1889+35_1889+36insGCCCC (n.1889+35_1889+36insGCCCC)
c.1904+35_1904+36insGCCCC (n.1904+35_1904+36insGCCCC)
c.2066+35_2066+36insGCCCC (n.2066+35_2066+36insGCCCC)
c.2147+35_2147+36insGCCCC (n.2147+35_2147+36insGCCCC)
c.*166+35_*166+36insGCCCC (n.*166+35_*166+36insGCCCC)
n.611+35_611+36insGCCCC
c.2387+35_2387+36insGCCCC (n.2387+35_2387+36insGCCCC)
c.1961+35_1961+36insGCCCC (n.1961+35_1961+36insGCCCC)
c.1985+35_1985+36insGCCCC (n.1985+35_1985+36insGCCCC)
n.2116+35_2116+36insGCCCC
c.2381+35_2381+36insGCCCC (n.2381+35_2381+36insGCCCC)
n.2561+35_2561+36insGCCCC
n.2541+35_2541+36insGCCCC
c.2033+35_2033+36insGCCCC (n.2033+35_2033+36insGCCCC)
n.2526+35_2526+36insGCCCC
 gnomAD v4
20g.3229060_3229061insGGGCCGCA2651691308SLC4A11c.2018+35_2018+36insGGCCCC (n.2018+35_2018+36insGGCCCC)
c.1949+35_1949+36insGGCCCC (n.1949+35_1949+36insGGCCCC)
c.1889+35_1889+36insGGCCCC (n.1889+35_1889+36insGGCCCC)
c.1904+35_1904+36insGGCCCC (n.1904+35_1904+36insGGCCCC)
c.2066+35_2066+36insGGCCCC (n.2066+35_2066+36insGGCCCC)
c.2147+35_2147+36insGGCCCC (n.2147+35_2147+36insGGCCCC)
c.*166+35_*166+36insGGCCCC (n.*166+35_*166+36insGGCCCC)
n.611+35_611+36insGGCCCC
c.2387+35_2387+36insGGCCCC (n.2387+35_2387+36insGGCCCC)
c.1961+35_1961+36insGGCCCC (n.1961+35_1961+36insGGCCCC)
c.1985+35_1985+36insGGCCCC (n.1985+35_1985+36insGGCCCC)
n.2116+35_2116+36insGGCCCC
c.2381+35_2381+36insGGCCCC (n.2381+35_2381+36insGGCCCC)
n.2561+35_2561+36insGGCCCC
n.2541+35_2541+36insGGCCCC
c.2033+35_2033+36insGGCCCC (n.2033+35_2033+36insGGCCCC)
n.2526+35_2526+36insGGCCCC
 gnomAD v4
20g.3229060_3229061insGGGGCGCA2651691307SLC4A11c.2018+35_2018+36insGCCCCC (n.2018+35_2018+36insGCCCCC)
c.1949+35_1949+36insGCCCCC (n.1949+35_1949+36insGCCCCC)
c.1889+35_1889+36insGCCCCC (n.1889+35_1889+36insGCCCCC)
c.1904+35_1904+36insGCCCCC (n.1904+35_1904+36insGCCCCC)
c.2066+35_2066+36insGCCCCC (n.2066+35_2066+36insGCCCCC)
c.2147+35_2147+36insGCCCCC (n.2147+35_2147+36insGCCCCC)
c.*166+35_*166+36insGCCCCC (n.*166+35_*166+36insGCCCCC)
n.611+35_611+36insGCCCCC
c.2387+35_2387+36insGCCCCC (n.2387+35_2387+36insGCCCCC)
c.1961+35_1961+36insGCCCCC (n.1961+35_1961+36insGCCCCC)
c.1985+35_1985+36insGCCCCC (n.1985+35_1985+36insGCCCCC)
n.2116+35_2116+36insGCCCCC
c.2381+35_2381+36insGCCCCC (n.2381+35_2381+36insGCCCCC)
n.2561+35_2561+36insGCCCCC
n.2541+35_2541+36insGCCCCC
c.2033+35_2033+36insGCCCCC (n.2033+35_2033+36insGCCCCC)
n.2526+35_2526+36insGCCCCC
 gnomAD v4
20g.3229060_3229061dupCA2651691312SLC4A11c.2018+34_2018+35dup (n.2018+34_2018+35dup)
c.1949+34_1949+35dup (n.1949+34_1949+35dup)
c.1889+34_1889+35dup (n.1889+34_1889+35dup)
c.1904+34_1904+35dup (n.1904+34_1904+35dup)
c.2066+34_2066+35dup (n.2066+34_2066+35dup)
c.2147+34_2147+35dup (n.2147+34_2147+35dup)
c.*166+34_*166+35dup (n.*166+34_*166+35dup)
n.611+34_611+35dup
c.2387+34_2387+35dup (n.2387+34_2387+35dup)
c.1961+34_1961+35dup (n.1961+34_1961+35dup)
c.1985+34_1985+35dup (n.1985+34_1985+35dup)
n.2116+34_2116+35dup
c.2381+34_2381+35dup (n.2381+34_2381+35dup)
n.2561+34_2561+35dup
n.2541+34_2541+35dup
c.2033+34_2033+35dup (n.2033+34_2033+35dup)
n.2526+34_2526+35dup
 gnomAD v4
20g.3229064_3229068delCA2651691306SLC4A11c.2018+31_2018+35del (n.2018+31_2018+35del)
c.1949+31_1949+35del (n.1949+31_1949+35del)
c.1889+31_1889+35del (n.1889+31_1889+35del)
c.1904+31_1904+35del (n.1904+31_1904+35del)
c.2066+31_2066+35del (n.2066+31_2066+35del)
c.2147+31_2147+35del (n.2147+31_2147+35del)
c.*166+31_*166+35del (n.*166+31_*166+35del)
n.611+31_611+35del
c.2387+31_2387+35del (n.2387+31_2387+35del)
c.1961+31_1961+35del (n.1961+31_1961+35del)
c.1985+31_1985+35del (n.1985+31_1985+35del)
n.2116+31_2116+35del
c.2381+31_2381+35del (n.2381+31_2381+35del)
n.2561+31_2561+35del
n.2541+31_2541+35del
c.2033+31_2033+35del (n.2033+31_2033+35del)
n.2526+31_2526+35del
 gnomAD v4

Number of alleles fetched