Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18059979T>ACA404775126IL12RB1c.1898A>T (p.Glu633Val)
c.2018A>T (p.Glu673Val)
c.2051A>T (p.Glu684Val)
c.2039A>T (p.Glu680Val)
c.2030A>T (p.Glu677Val)
c.1931A>T (p.Glu644Val)
c.1919A>T (p.Glu640Val)
c.1316A>T (p.Glu439Val)
19g.18059979T>CCA404775127IL12RB1c.1898A>G (p.Glu633Gly)
c.2018A>G (p.Glu673Gly)
c.2051A>G (p.Glu684Gly)
c.2039A>G (p.Glu680Gly)
c.2030A>G (p.Glu677Gly)
c.1931A>G (p.Glu644Gly)
c.1919A>G (p.Glu640Gly)
c.1316A>G (p.Glu439Gly)
19g.18059979T>GCA404775128IL12RB1c.1898A>C (p.Glu633Ala)
c.2018A>C (p.Glu673Ala)
c.2051A>C (p.Glu684Ala)
c.2039A>C (p.Glu680Ala)
c.2030A>C (p.Glu677Ala)
c.1931A>C (p.Glu644Ala)
c.1919A>C (p.Glu640Ala)
c.1316A>C (p.Glu439Ala)
 gnomAD v4
19g.18059980C>ACA9304652IL12RB1c.1897G>T (p.Glu633Ter)
c.2017G>T (p.Glu673Ter)
c.2050G>T (p.Glu684Ter)
c.2038G>T (p.Glu680Ter)
c.2029G>T (p.Glu677Ter)
c.1930G>T (p.Glu644Ter)
c.1918G>T (p.Glu640Ter)
c.1315G>T (p.Glu439Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059980C=CA2326165169IL12RB1c.1897G= (p.Glu633=)
c.2017G= (p.Glu673=)
c.2050G= (p.Glu684=)
c.2038G= (p.Glu680=)
c.2029G= (p.Glu677=)
c.1930G= (p.Glu644=)
c.1918G= (p.Glu640=)
c.1315G= (p.Glu439=)
19g.18059980C>GCA9304653IL12RB1c.1897G>C (p.Glu633Gln)
c.2017G>C (p.Glu673Gln)
c.2050G>C (p.Glu684Gln)
c.2038G>C (p.Glu680Gln)
c.2029G>C (p.Glu677Gln)
c.1930G>C (p.Glu644Gln)
c.1918G>C (p.Glu640Gln)
c.1315G>C (p.Glu439Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059980C>TCA9304654IL12RB1c.1897G>A (p.Glu633Lys)
c.2017G>A (p.Glu673Lys)
c.2050G>A (p.Glu684Lys)
c.2038G>A (p.Glu680Lys)
c.2029G>A (p.Glu677Lys)
c.1930G>A (p.Glu644Lys)
c.1918G>A (p.Glu640Lys)
c.1315G>A (p.Glu439Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18059981G>ACA9304655IL12RB1c.1896C>T (p.Leu632=)
c.2016C>T (p.Leu672=)
c.2049C>T (p.Leu683=)
c.2037C>T (p.Leu679=)
c.2028C>T (p.Leu676=)
c.1929C>T (p.Leu643=)
c.1917C>T (p.Leu639=)
c.1314C>T (p.Leu438=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059981G>CCA506026071IL12RB1c.1896C>G (p.Leu632=)
c.2016C>G (p.Leu672=)
c.2049C>G (p.Leu683=)
c.2037C>G (p.Leu679=)
c.2028C>G (p.Leu676=)
c.1929C>G (p.Leu643=)
c.1917C>G (p.Leu639=)
c.1314C>G (p.Leu438=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18059981G=CA2326165170IL12RB1c.1896C= (p.Leu632=)
c.2016C= (p.Leu672=)
c.2049C= (p.Leu683=)
c.2037C= (p.Leu679=)
c.2028C= (p.Leu676=)
c.1929C= (p.Leu643=)
c.1917C= (p.Leu639=)
c.1314C= (p.Leu438=)
19g.18059981G>TCA506026073IL12RB1c.1896C>A (p.Leu632=)
c.2016C>A (p.Leu672=)
c.2049C>A (p.Leu683=)
c.2037C>A (p.Leu679=)
c.2028C>A (p.Leu676=)
c.1929C>A (p.Leu643=)
c.1917C>A (p.Leu639=)
c.1314C>A (p.Leu438=)
 dbSNP gnomAD v2 gnomAD v4
19g.18059982A>CCA404775136IL12RB1c.1895T>G (p.Leu632Arg)
c.2015T>G (p.Leu672Arg)
c.2048T>G (p.Leu683Arg)
c.2036T>G (p.Leu679Arg)
c.2027T>G (p.Leu676Arg)
c.1928T>G (p.Leu643Arg)
c.1916T>G (p.Leu639Arg)
c.1313T>G (p.Leu438Arg)
19g.18059982A>GCA404775138IL12RB1c.1895T>C (p.Leu632Pro)
c.2015T>C (p.Leu672Pro)
c.2048T>C (p.Leu683Pro)
c.2036T>C (p.Leu679Pro)
c.2027T>C (p.Leu676Pro)
c.1928T>C (p.Leu643Pro)
c.1916T>C (p.Leu639Pro)
c.1313T>C (p.Leu438Pro)
19g.18059982A>TCA404775139IL12RB1c.1895T>A (p.Leu632His)
c.2015T>A (p.Leu672His)
c.2048T>A (p.Leu683His)
c.2036T>A (p.Leu679His)
c.2027T>A (p.Leu676His)
c.1928T>A (p.Leu643His)
c.1916T>A (p.Leu639His)
c.1313T>A (p.Leu438His)
19g.18059983G>ACA404775144IL12RB1c.1894C>T (p.Leu632Phe)
c.2014C>T (p.Leu672Phe)
c.2047C>T (p.Leu683Phe)
c.2035C>T (p.Leu679Phe)
c.2026C>T (p.Leu676Phe)
c.1927C>T (p.Leu643Phe)
c.1915C>T (p.Leu639Phe)
c.1312C>T (p.Leu438Phe)
 gnomAD v4
19g.18059983G>CCA404775145IL12RB1c.1894C>G (p.Leu632Val)
c.2014C>G (p.Leu672Val)
c.2047C>G (p.Leu683Val)
c.2035C>G (p.Leu679Val)
c.2026C>G (p.Leu676Val)
c.1927C>G (p.Leu643Val)
c.1915C>G (p.Leu639Val)
c.1312C>G (p.Leu438Val)
19g.18059983G>TCA404775142IL12RB1c.1894C>A (p.Leu632Ile)
c.2014C>A (p.Leu672Ile)
c.2047C>A (p.Leu683Ile)
c.2035C>A (p.Leu679Ile)
c.2026C>A (p.Leu676Ile)
c.1927C>A (p.Leu643Ile)
c.1915C>A (p.Leu639Ile)
c.1312C>A (p.Leu438Ile)
 dbSNP
19g.18059984A>CCA506026081IL12RB1c.1893T>G (p.Pro631=)
c.2013T>G (p.Pro671=)
c.2046T>G (p.Pro682=)
c.2034T>G (p.Pro678=)
c.2025T>G (p.Pro675=)
c.1926T>G (p.Pro642=)
c.1914T>G (p.Pro638=)
c.1311T>G (p.Pro437=)
19g.18059984A>GCA506026083IL12RB1c.1893T>C (p.Pro631=)
c.2013T>C (p.Pro671=)
c.2046T>C (p.Pro682=)
c.2034T>C (p.Pro678=)
c.2025T>C (p.Pro675=)
c.1926T>C (p.Pro642=)
c.1914T>C (p.Pro638=)
c.1311T>C (p.Pro437=)
 gnomAD v4
19g.18059984A>TCA506026085IL12RB1c.1893T>A (p.Pro631=)
c.2013T>A (p.Pro671=)
c.2046T>A (p.Pro682=)
c.2034T>A (p.Pro678=)
c.2025T>A (p.Pro675=)
c.1926T>A (p.Pro642=)
c.1914T>A (p.Pro638=)
c.1311T>A (p.Pro437=)
19g.18059985G>ACA9304657IL12RB1c.1892C>T (p.Pro631Leu)
c.2012C>T (p.Pro671Leu)
c.2045C>T (p.Pro682Leu)
c.2033C>T (p.Pro678Leu)
c.2024C>T (p.Pro675Leu)
c.1925C>T (p.Pro642Leu)
c.1913C>T (p.Pro638Leu)
c.1310C>T (p.Pro437Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059985G>CCA404775147IL12RB1c.1892C>G (p.Pro631Arg)
c.2012C>G (p.Pro671Arg)
c.2045C>G (p.Pro682Arg)
c.2033C>G (p.Pro678Arg)
c.2024C>G (p.Pro675Arg)
c.1925C>G (p.Pro642Arg)
c.1913C>G (p.Pro638Arg)
c.1310C>G (p.Pro437Arg)
19g.18059985G=CA2326165171IL12RB1c.1892C= (p.Pro631=)
c.2012C= (p.Pro671=)
c.2045C= (p.Pro682=)
c.2033C= (p.Pro678=)
c.2024C= (p.Pro675=)
c.1925C= (p.Pro642=)
c.1913C= (p.Pro638=)
c.1310C= (p.Pro437=)
19g.18059985G>TCA9304656IL12RB1c.1892C>A (p.Pro631His)
c.2012C>A (p.Pro671His)
c.2045C>A (p.Pro682His)
c.2033C>A (p.Pro678His)
c.2024C>A (p.Pro675His)
c.1925C>A (p.Pro642His)
c.1913C>A (p.Pro638His)
c.1310C>A (p.Pro437His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059986G>ACA404775151IL12RB1c.1891C>T (p.Pro631Ser)
c.2011C>T (p.Pro671Ser)
c.2044C>T (p.Pro682Ser)
c.2032C>T (p.Pro678Ser)
c.2023C>T (p.Pro675Ser)
c.1924C>T (p.Pro642Ser)
c.1912C>T (p.Pro638Ser)
c.1309C>T (p.Pro437Ser)
19g.18059986G>CCA404775153IL12RB1c.1891C>G (p.Pro631Ala)
c.2011C>G (p.Pro671Ala)
c.2044C>G (p.Pro682Ala)
c.2032C>G (p.Pro678Ala)
c.2023C>G (p.Pro675Ala)
c.1924C>G (p.Pro642Ala)
c.1912C>G (p.Pro638Ala)
c.1309C>G (p.Pro437Ala)
19g.18059986G>TCA404775155IL12RB1c.1891C>A (p.Pro631Thr)
c.2011C>A (p.Pro671Thr)
c.2044C>A (p.Pro682Thr)
c.2032C>A (p.Pro678Thr)
c.2023C>A (p.Pro675Thr)
c.1924C>A (p.Pro642Thr)
c.1912C>A (p.Pro638Thr)
c.1309C>A (p.Pro437Thr)
 gnomAD v4
19g.18059987C>ACA404775157IL12RB1c.1890G>T (p.Glu630Asp)
c.2010G>T (p.Glu670Asp)
c.2043G>T (p.Glu681Asp)
c.2031G>T (p.Glu677Asp)
c.2022G>T (p.Glu674Asp)
c.1923G>T (p.Glu641Asp)
c.1911G>T (p.Glu637Asp)
c.1308G>T (p.Glu436Asp)
19g.18059987C=CA2326165172IL12RB1c.1890G= (p.Glu630=)
c.2010G= (p.Glu670=)
c.2043G= (p.Glu681=)
c.2031G= (p.Glu677=)
c.2022G= (p.Glu674=)
c.1923G= (p.Glu641=)
c.1911G= (p.Glu637=)
c.1308G= (p.Glu436=)
19g.18059987C>GCA404775160IL12RB1c.1890G>C (p.Glu630Asp)
c.2010G>C (p.Glu670Asp)
c.2043G>C (p.Glu681Asp)
c.2031G>C (p.Glu677Asp)
c.2022G>C (p.Glu674Asp)
c.1923G>C (p.Glu641Asp)
c.1911G>C (p.Glu637Asp)
c.1308G>C (p.Glu436Asp)
19g.18059987C>TCA506026095IL12RB1c.1890G>A (p.Glu630=)
c.2010G>A (p.Glu670=)
c.2043G>A (p.Glu681=)
c.2031G>A (p.Glu677=)
c.2022G>A (p.Glu674=)
c.1923G>A (p.Glu641=)
c.1911G>A (p.Glu637=)
c.1308G>A (p.Glu436=)
 dbSNP gnomAD v3 gnomAD v4
19g.18059988T>ACA404775162IL12RB1c.1889A>T (p.Glu630Val)
c.2009A>T (p.Glu670Val)
c.2042A>T (p.Glu681Val)
c.2030A>T (p.Glu677Val)
c.2021A>T (p.Glu674Val)
c.1922A>T (p.Glu641Val)
c.1910A>T (p.Glu637Val)
c.1307A>T (p.Glu436Val)
19g.18059988T>CCA404775164IL12RB1c.1889A>G (p.Glu630Gly)
c.2009A>G (p.Glu670Gly)
c.2042A>G (p.Glu681Gly)
c.2030A>G (p.Glu677Gly)
c.2021A>G (p.Glu674Gly)
c.1922A>G (p.Glu641Gly)
c.1910A>G (p.Glu637Gly)
c.1307A>G (p.Glu436Gly)
 gnomAD v4
19g.18059988T>GCA404775165IL12RB1c.1889A>C (p.Glu630Ala)
c.2009A>C (p.Glu670Ala)
c.2042A>C (p.Glu681Ala)
c.2030A>C (p.Glu677Ala)
c.2021A>C (p.Glu674Ala)
c.1922A>C (p.Glu641Ala)
c.1910A>C (p.Glu637Ala)
c.1307A>C (p.Glu436Ala)
19g.18059988_18059990delinsTCACA2326165173IL12RB1c.1887_1889delinsTGA (p.Thr629=)
c.2007_2009delinsTGA (p.Thr669=)
c.2040_2042delinsTGA (p.Thr680=)
c.2028_2030delinsTGA (p.Thr676=)
c.2019_2021delinsTGA (p.Thr673=)
c.1920_1922delinsTGA (p.Thr640=)
c.1908_1910delinsTGA (p.Thr636=)
c.1305_1307delinsTGA (p.Thr435=)
19g.18059989delCA2735823728IL12RB1c.1888del (p.Glu630SerfsTer?)
c.2008del (p.Glu670SerfsTer?)
c.2041del (p.Glu681SerfsTer?)
c.2029del (p.Glu677SerfsTer?)
c.2020del (p.Glu674SerfsTer?)
c.1921del (p.Glu641SerfsTer?)
c.1909del (p.Glu637SerfsTer?)
c.1306del (p.Glu436SerfsTer?)
 dbSNP
19g.18059989C>ACA404775168IL12RB1c.1888G>T (p.Glu630Ter)
c.2008G>T (p.Glu670Ter)
c.2041G>T (p.Glu681Ter)
c.2029G>T (p.Glu677Ter)
c.2020G>T (p.Glu674Ter)
c.1921G>T (p.Glu641Ter)
c.1909G>T (p.Glu637Ter)
c.1306G>T (p.Glu436Ter)
19g.18059989C>GCA404775170IL12RB1c.1888G>C (p.Glu630Gln)
c.2008G>C (p.Glu670Gln)
c.2041G>C (p.Glu681Gln)
c.2029G>C (p.Glu677Gln)
c.2020G>C (p.Glu674Gln)
c.1921G>C (p.Glu641Gln)
c.1909G>C (p.Glu637Gln)
c.1306G>C (p.Glu436Gln)
 gnomAD v4
19g.18059989C>TCA404775171IL12RB1c.1888G>A (p.Glu630Lys)
c.2008G>A (p.Glu670Lys)
c.2041G>A (p.Glu681Lys)
c.2029G>A (p.Glu677Lys)
c.2020G>A (p.Glu674Lys)
c.1921G>A (p.Glu641Lys)
c.1909G>A (p.Glu637Lys)
c.1306G>A (p.Glu436Lys)
 gnomAD v4
19g.18059989_18059990delCA2326165174IL12RB1c.1887_1888del (p.Glu630AlafsTer9)
c.2007_2008del (p.Glu670AlafsTer9)
c.2040_2041del (p.Glu681AlafsTer9)
c.2028_2029del (p.Glu677AlafsTer9)
c.2019_2020del (p.Glu674AlafsTer9)
c.1920_1921del (p.Glu641AlafsTer9)
c.1908_1909del (p.Glu637AlafsTer9)
c.1305_1306del (p.Glu436AlafsTer9)
 dbSNP
19g.18059990A=CA2326165175IL12RB1c.1887T= (p.Thr629=)
c.2007T= (p.Thr669=)
c.2040T= (p.Thr680=)
c.2028T= (p.Thr676=)
c.2019T= (p.Thr673=)
c.1920T= (p.Thr640=)
c.1908T= (p.Thr636=)
c.1305T= (p.Thr435=)
19g.18059990A>CCA506026104IL12RB1c.1887T>G (p.Thr629=)
c.2007T>G (p.Thr669=)
c.2040T>G (p.Thr680=)
c.2028T>G (p.Thr676=)
c.2019T>G (p.Thr673=)
c.1920T>G (p.Thr640=)
c.1908T>G (p.Thr636=)
c.1305T>G (p.Thr435=)
19g.18059990A>GCA9304658IL12RB1c.1887T>C (p.Thr629=)
c.2007T>C (p.Thr669=)
c.2040T>C (p.Thr680=)
c.2028T>C (p.Thr676=)
c.2019T>C (p.Thr673=)
c.1920T>C (p.Thr640=)
c.1908T>C (p.Thr636=)
c.1305T>C (p.Thr435=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059990A>TCA506026106IL12RB1c.1887T>A (p.Thr629=)
c.2007T>A (p.Thr669=)
c.2040T>A (p.Thr680=)
c.2028T>A (p.Thr676=)
c.2019T>A (p.Thr673=)
c.1920T>A (p.Thr640=)
c.1908T>A (p.Thr636=)
c.1305T>A (p.Thr435=)
19g.18059991G>ACA404775175IL12RB1c.1886C>T (p.Thr629Ile)
c.2006C>T (p.Thr669Ile)
c.2039C>T (p.Thr680Ile)
c.2027C>T (p.Thr676Ile)
c.2018C>T (p.Thr673Ile)
c.1919C>T (p.Thr640Ile)
c.1907C>T (p.Thr636Ile)
c.1304C>T (p.Thr435Ile)
 gnomAD v4
19g.18059991G>CCA404775179IL12RB1c.1886C>G (p.Thr629Ser)
c.2006C>G (p.Thr669Ser)
c.2039C>G (p.Thr680Ser)
c.2027C>G (p.Thr676Ser)
c.2018C>G (p.Thr673Ser)
c.1919C>G (p.Thr640Ser)
c.1907C>G (p.Thr636Ser)
c.1304C>G (p.Thr435Ser)
19g.18059991G>TCA404775177IL12RB1c.1886C>A (p.Thr629Asn)
c.2006C>A (p.Thr669Asn)
c.2039C>A (p.Thr680Asn)
c.2027C>A (p.Thr676Asn)
c.2018C>A (p.Thr673Asn)
c.1919C>A (p.Thr640Asn)
c.1907C>A (p.Thr636Asn)
c.1304C>A (p.Thr435Asn)
 gnomAD v4
19g.18059992T>ACA404775181IL12RB1c.1885A>T (p.Thr629Ser)
c.2005A>T (p.Thr669Ser)
c.2038A>T (p.Thr680Ser)
c.2026A>T (p.Thr676Ser)
c.2017A>T (p.Thr673Ser)
c.1918A>T (p.Thr640Ser)
c.1906A>T (p.Thr636Ser)
c.1303A>T (p.Thr435Ser)
19g.18059992T>CCA404775183IL12RB1c.1885A>G (p.Thr629Ala)
c.2005A>G (p.Thr669Ala)
c.2038A>G (p.Thr680Ala)
c.2026A>G (p.Thr676Ala)
c.2017A>G (p.Thr673Ala)
c.1918A>G (p.Thr640Ala)
c.1906A>G (p.Thr636Ala)
c.1303A>G (p.Thr435Ala)
 gnomAD v4
19g.18059992T>GCA404775185IL12RB1c.1885A>C (p.Thr629Pro)
c.2005A>C (p.Thr669Pro)
c.2038A>C (p.Thr680Pro)
c.2026A>C (p.Thr676Pro)
c.2017A>C (p.Thr673Pro)
c.1918A>C (p.Thr640Pro)
c.1906A>C (p.Thr636Pro)
c.1303A>C (p.Thr435Pro)
19g.18059993C>ACA404775187IL12RB1c.1884G>T (p.Arg628Ser)
c.2004G>T (p.Arg668Ser)
c.2037G>T (p.Arg679Ser)
c.2025G>T (p.Arg675Ser)
c.2016G>T (p.Arg672Ser)
c.1917G>T (p.Arg639Ser)
c.1905G>T (p.Arg635Ser)
c.1302G>T (p.Arg434Ser)
19g.18059993C=CA2326165176IL12RB1c.1884G= (p.Arg628=)
c.2004G= (p.Arg668=)
c.2037G= (p.Arg679=)
c.2025G= (p.Arg675=)
c.2016G= (p.Arg672=)
c.1917G= (p.Arg639=)
c.1905G= (p.Arg635=)
c.1302G= (p.Arg434=)
19g.18059993C>GCA404775189IL12RB1c.1884G>C (p.Arg628Ser)
c.2004G>C (p.Arg668Ser)
c.2037G>C (p.Arg679Ser)
c.2025G>C (p.Arg675Ser)
c.2016G>C (p.Arg672Ser)
c.1917G>C (p.Arg639Ser)
c.1905G>C (p.Arg635Ser)
c.1302G>C (p.Arg434Ser)
19g.18059993C>TCA506026119IL12RB1c.1884G>A (p.Arg628=)
c.2004G>A (p.Arg668=)
c.2037G>A (p.Arg679=)
c.2025G>A (p.Arg675=)
c.2016G>A (p.Arg672=)
c.1917G>A (p.Arg639=)
c.1905G>A (p.Arg635=)
c.1302G>A (p.Arg434=)
 dbSNP gnomAD v2
19g.18059994C>ACA404775191IL12RB1c.1883G>T (p.Arg628Met)
c.2003G>T (p.Arg668Met)
c.2036G>T (p.Arg679Met)
c.2024G>T (p.Arg675Met)
c.2015G>T (p.Arg672Met)
c.1916G>T (p.Arg639Met)
c.1904G>T (p.Arg635Met)
c.1301G>T (p.Arg434Met)
19g.18059994C=CA2326165177IL12RB1c.1883G= (p.Arg628=)
c.2003G= (p.Arg668=)
c.2036G= (p.Arg679=)
c.2024G= (p.Arg675=)
c.2015G= (p.Arg672=)
c.1916G= (p.Arg639=)
c.1904G= (p.Arg635=)
c.1301G= (p.Arg434=)
19g.18059994C>GCA404775193IL12RB1c.1883G>C (p.Arg628Thr)
c.2003G>C (p.Arg668Thr)
c.2036G>C (p.Arg679Thr)
c.2024G>C (p.Arg675Thr)
c.2015G>C (p.Arg672Thr)
c.1916G>C (p.Arg639Thr)
c.1904G>C (p.Arg635Thr)
c.1301G>C (p.Arg434Thr)
19g.18059994C>TCA9304659IL12RB1c.1883G>A (p.Arg628Lys)
c.2003G>A (p.Arg668Lys)
c.2036G>A (p.Arg679Lys)
c.2024G>A (p.Arg675Lys)
c.2015G>A (p.Arg672Lys)
c.1916G>A (p.Arg639Lys)
c.1904G>A (p.Arg635Lys)
c.1301G>A (p.Arg434Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059995T>ACA404775196IL12RB1c.1882A>T (p.Arg628Trp)
c.2002A>T (p.Arg668Trp)
c.2035A>T (p.Arg679Trp)
c.2023A>T (p.Arg675Trp)
c.2014A>T (p.Arg672Trp)
c.1915A>T (p.Arg639Trp)
c.1903A>T (p.Arg635Trp)
c.1300A>T (p.Arg434Trp)
19g.18059995T>CCA404775197IL12RB1c.1882A>G (p.Arg628Gly)
c.2002A>G (p.Arg668Gly)
c.2035A>G (p.Arg679Gly)
c.2023A>G (p.Arg675Gly)
c.2014A>G (p.Arg672Gly)
c.1915A>G (p.Arg639Gly)
c.1903A>G (p.Arg635Gly)
c.1300A>G (p.Arg434Gly)
19g.18059995T>GCA506026123IL12RB1c.1882A>C (p.Arg628=)
c.2002A>C (p.Arg668=)
c.2035A>C (p.Arg679=)
c.2023A>C (p.Arg675=)
c.2014A>C (p.Arg672=)
c.1915A>C (p.Arg639=)
c.1903A>C (p.Arg635=)
c.1300A>C (p.Arg434=)
19g.18059996C>ACA404775199IL12RB1c.1881G>T (p.Glu627Asp)
c.2001G>T (p.Glu667Asp)
c.2034G>T (p.Glu678Asp)
c.2022G>T (p.Glu674Asp)
c.2013G>T (p.Glu671Asp)
c.1914G>T (p.Glu638Asp)
c.1902G>T (p.Glu634Asp)
c.1299G>T (p.Glu433Asp)
19g.18059996C=CA2326165178IL12RB1c.1881G= (p.Glu627=)
c.2001G= (p.Glu667=)
c.2034G= (p.Glu678=)
c.2022G= (p.Glu674=)
c.2013G= (p.Glu671=)
c.1914G= (p.Glu638=)
c.1902G= (p.Glu634=)
c.1299G= (p.Glu433=)
19g.18059996C>GCA404775201IL12RB1c.1881G>C (p.Glu627Asp)
c.2001G>C (p.Glu667Asp)
c.2034G>C (p.Glu678Asp)
c.2022G>C (p.Glu674Asp)
c.2013G>C (p.Glu671Asp)
c.1914G>C (p.Glu638Asp)
c.1902G>C (p.Glu634Asp)
c.1299G>C (p.Glu433Asp)
 gnomAD v4
19g.18059996C>TCA9304660IL12RB1c.1881G>A (p.Glu627=)
c.2001G>A (p.Glu667=)
c.2034G>A (p.Glu678=)
c.2022G>A (p.Glu674=)
c.2013G>A (p.Glu671=)
c.1914G>A (p.Glu638=)
c.1902G>A (p.Glu634=)
c.1299G>A (p.Glu433=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18059997T>ACA404775202IL12RB1c.1880A>T (p.Glu627Val)
c.2000A>T (p.Glu667Val)
c.2033A>T (p.Glu678Val)
c.2021A>T (p.Glu674Val)
c.2012A>T (p.Glu671Val)
c.1913A>T (p.Glu638Val)
c.1901A>T (p.Glu634Val)
c.1298A>T (p.Glu433Val)
19g.18059997T>CCA404775204IL12RB1c.1880A>G (p.Glu627Gly)
c.2000A>G (p.Glu667Gly)
c.2033A>G (p.Glu678Gly)
c.2021A>G (p.Glu674Gly)
c.2012A>G (p.Glu671Gly)
c.1913A>G (p.Glu638Gly)
c.1901A>G (p.Glu634Gly)
c.1298A>G (p.Glu433Gly)
19g.18059997T>GCA404775206IL12RB1c.1880A>C (p.Glu627Ala)
c.2000A>C (p.Glu667Ala)
c.2033A>C (p.Glu678Ala)
c.2021A>C (p.Glu674Ala)
c.2012A>C (p.Glu671Ala)
c.1913A>C (p.Glu638Ala)
c.1901A>C (p.Glu634Ala)
c.1298A>C (p.Glu433Ala)
19g.18059998C>ACA404775209IL12RB1c.1879G>T (p.Glu627Ter)
c.1999G>T (p.Glu667Ter)
c.2032G>T (p.Glu678Ter)
c.2020G>T (p.Glu674Ter)
c.2011G>T (p.Glu671Ter)
c.1912G>T (p.Glu638Ter)
c.1900G>T (p.Glu634Ter)
c.1297G>T (p.Glu433Ter)
 gnomAD v4
19g.18059998C=CA2326165179IL12RB1c.1879G= (p.Glu627=)
c.1999G= (p.Glu667=)
c.2032G= (p.Glu678=)
c.2020G= (p.Glu674=)
c.2011G= (p.Glu671=)
c.1912G= (p.Glu638=)
c.1900G= (p.Glu634=)
c.1297G= (p.Glu433=)
19g.18059998C>GCA404775211IL12RB1c.1879G>C (p.Glu627Gln)
c.1999G>C (p.Glu667Gln)
c.2032G>C (p.Glu678Gln)
c.2020G>C (p.Glu674Gln)
c.2011G>C (p.Glu671Gln)
c.1912G>C (p.Glu638Gln)
c.1900G>C (p.Glu634Gln)
c.1297G>C (p.Glu433Gln)
19g.18059998C>TCA9304661IL12RB1c.1879G>A (p.Glu627Lys)
c.1999G>A (p.Glu667Lys)
c.2032G>A (p.Glu678Lys)
c.2020G>A (p.Glu674Lys)
c.2011G>A (p.Glu671Lys)
c.1912G>A (p.Glu638Lys)
c.1900G>A (p.Glu634Lys)
c.1297G>A (p.Glu433Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18059999G>ACA9304662IL12RB1c.1878C>T (p.Gly626=)
c.1998C>T (p.Gly666=)
c.2031C>T (p.Gly677=)
c.2019C>T (p.Gly673=)
c.2010C>T (p.Gly670=)
c.1911C>T (p.Gly637=)
c.1899C>T (p.Gly633=)
c.1296C>T (p.Gly432=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18059999G>CCA506026139IL12RB1c.1878C>G (p.Gly626=)
c.1998C>G (p.Gly666=)
c.2031C>G (p.Gly677=)
c.2019C>G (p.Gly673=)
c.2010C>G (p.Gly670=)
c.1911C>G (p.Gly637=)
c.1899C>G (p.Gly633=)
c.1296C>G (p.Gly432=)
19g.18059999G=CA2326165180IL12RB1c.1878C= (p.Gly626=)
c.1998C= (p.Gly666=)
c.2031C= (p.Gly677=)
c.2019C= (p.Gly673=)
c.2010C= (p.Gly670=)
c.1911C= (p.Gly637=)
c.1899C= (p.Gly633=)
c.1296C= (p.Gly432=)
19g.18059999G>TCA506026138IL12RB1c.1878C>A (p.Gly626=)
c.1998C>A (p.Gly666=)
c.2031C>A (p.Gly677=)
c.2019C>A (p.Gly673=)
c.2010C>A (p.Gly670=)
c.1911C>A (p.Gly637=)
c.1899C>A (p.Gly633=)
c.1296C>A (p.Gly432=)
 gnomAD v4
19g.18060000C>ACA404775214IL12RB1c.1877G>T (p.Gly626Val)
c.1997G>T (p.Gly666Val)
c.2030G>T (p.Gly677Val)
c.2018G>T (p.Gly673Val)
c.2009G>T (p.Gly670Val)
c.1910G>T (p.Gly637Val)
c.1898G>T (p.Gly633Val)
c.1295G>T (p.Gly432Val)
19g.18060000C=CA2326165181IL12RB1c.1877G= (p.Gly626=)
c.1997G= (p.Gly666=)
c.2030G= (p.Gly677=)
c.2018G= (p.Gly673=)
c.2009G= (p.Gly670=)
c.1910G= (p.Gly637=)
c.1898G= (p.Gly633=)
c.1295G= (p.Gly432=)
19g.18060000C>GCA404775216IL12RB1c.1877G>C (p.Gly626Ala)
c.1997G>C (p.Gly666Ala)
c.2030G>C (p.Gly677Ala)
c.2018G>C (p.Gly673Ala)
c.2009G>C (p.Gly670Ala)
c.1910G>C (p.Gly637Ala)
c.1898G>C (p.Gly633Ala)
c.1295G>C (p.Gly432Ala)
19g.18060000C>TCA9304663IL12RB1c.1877G>A (p.Gly626Asp)
c.1997G>A (p.Gly666Asp)
c.2030G>A (p.Gly677Asp)
c.2018G>A (p.Gly673Asp)
c.2009G>A (p.Gly670Asp)
c.1910G>A (p.Gly637Asp)
c.1898G>A (p.Gly633Asp)
c.1295G>A (p.Gly432Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18060001C>ACA404775219IL12RB1c.1876G>T (p.Gly626Cys)
c.1996G>T (p.Gly666Cys)
c.2029G>T (p.Gly677Cys)
c.2017G>T (p.Gly673Cys)
c.2008G>T (p.Gly670Cys)
c.1909G>T (p.Gly637Cys)
c.1897G>T (p.Gly633Cys)
c.1294G>T (p.Gly432Cys)
 COSMIC COSMIC
19g.18060001C>GCA404775221IL12RB1c.1876G>C (p.Gly626Arg)
c.1996G>C (p.Gly666Arg)
c.2029G>C (p.Gly677Arg)
c.2017G>C (p.Gly673Arg)
c.2008G>C (p.Gly670Arg)
c.1909G>C (p.Gly637Arg)
c.1897G>C (p.Gly633Arg)
c.1294G>C (p.Gly432Arg)
19g.18060001C>TCA404775223IL12RB1c.1876G>A (p.Gly626Ser)
c.1996G>A (p.Gly666Ser)
c.2029G>A (p.Gly677Ser)
c.2017G>A (p.Gly673Ser)
c.2008G>A (p.Gly670Ser)
c.1909G>A (p.Gly637Ser)
c.1897G>A (p.Gly633Ser)
c.1294G>A (p.Gly432Ser)
 COSMIC COSMIC
19g.18060002T>ACA404775227IL12RB1c.1875A>T (p.Lys625Asn)
c.1995A>T (p.Lys665Asn)
c.2028A>T (p.Lys676Asn)
c.2016A>T (p.Lys672Asn)
c.2007A>T (p.Lys669Asn)
c.1908A>T (p.Lys636Asn)
c.1896A>T (p.Lys632Asn)
c.1293A>T (p.Lys431Asn)
 gnomAD v4
19g.18060002T>CCA506026149IL12RB1c.1875A>G (p.Lys625=)
c.1995A>G (p.Lys665=)
c.2028A>G (p.Lys676=)
c.2016A>G (p.Lys672=)
c.2007A>G (p.Lys669=)
c.1908A>G (p.Lys636=)
c.1896A>G (p.Lys632=)
c.1293A>G (p.Lys431=)
 gnomAD v4
19g.18060002T>GCA404775225IL12RB1c.1875A>C (p.Lys625Asn)
c.1995A>C (p.Lys665Asn)
c.2028A>C (p.Lys676Asn)
c.2016A>C (p.Lys672Asn)
c.2007A>C (p.Lys669Asn)
c.1908A>C (p.Lys636Asn)
c.1896A>C (p.Lys632Asn)
c.1293A>C (p.Lys431Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.18060002T=CA2326165182IL12RB1c.1875A= (p.Lys625=)
c.1995A= (p.Lys665=)
c.2028A= (p.Lys676=)
c.2016A= (p.Lys672=)
c.2007A= (p.Lys669=)
c.1908A= (p.Lys636=)
c.1896A= (p.Lys632=)
c.1293A= (p.Lys431=)
19g.18060004delCA2583508605IL12RB1c.1875del (p.Gly626AlafsTer?)
c.1995del (p.Gly666AlafsTer?)
c.2028del (p.Gly677AlafsTer?)
c.2016del (p.Gly673AlafsTer?)
c.2007del (p.Gly670AlafsTer?)
c.1908del (p.Gly637AlafsTer?)
c.1896del (p.Gly633AlafsTer?)
c.1293del (p.Gly432AlafsTer?)
 gnomAD v4
19g.18060003T>ACA404775230IL12RB1c.1874A>T (p.Lys625Ile)
c.1994A>T (p.Lys665Ile)
c.2027A>T (p.Lys676Ile)
c.2015A>T (p.Lys672Ile)
c.2006A>T (p.Lys669Ile)
c.1907A>T (p.Lys636Ile)
c.1895A>T (p.Lys632Ile)
c.1292A>T (p.Lys431Ile)
19g.18060003T>CCA404775231IL12RB1c.1874A>G (p.Lys625Arg)
c.1994A>G (p.Lys665Arg)
c.2027A>G (p.Lys676Arg)
c.2015A>G (p.Lys672Arg)
c.2006A>G (p.Lys669Arg)
c.1907A>G (p.Lys636Arg)
c.1895A>G (p.Lys632Arg)
c.1292A>G (p.Lys431Arg)
19g.18060003T>GCA404775233IL12RB1c.1874A>C (p.Lys625Thr)
c.1994A>C (p.Lys665Thr)
c.2027A>C (p.Lys676Thr)
c.2015A>C (p.Lys672Thr)
c.2006A>C (p.Lys669Thr)
c.1907A>C (p.Lys636Thr)
c.1895A>C (p.Lys632Thr)
c.1292A>C (p.Lys431Thr)
19g.18060004T>ACA404775234IL12RB1c.1873A>T (p.Lys625Ter)
c.1993A>T (p.Lys665Ter)
c.2026A>T (p.Lys676Ter)
c.2014A>T (p.Lys672Ter)
c.2005A>T (p.Lys669Ter)
c.1906A>T (p.Lys636Ter)
c.1894A>T (p.Lys632Ter)
c.1291A>T (p.Lys431Ter)
19g.18060004T>CCA404775236IL12RB1c.1873A>G (p.Lys625Glu)
c.1993A>G (p.Lys665Glu)
c.2026A>G (p.Lys676Glu)
c.2014A>G (p.Lys672Glu)
c.2005A>G (p.Lys669Glu)
c.1906A>G (p.Lys636Glu)
c.1894A>G (p.Lys632Glu)
c.1291A>G (p.Lys431Glu)
19g.18060004T>GCA404775241IL12RB1c.1873A>C (p.Lys625Gln)
c.1993A>C (p.Lys665Gln)
c.2026A>C (p.Lys676Gln)
c.2014A>C (p.Lys672Gln)
c.2005A>C (p.Lys669Gln)
c.1906A>C (p.Lys636Gln)
c.1894A>C (p.Lys632Gln)
c.1291A>C (p.Lys431Gln)
19g.18060005G>ACA506026160IL12RB1c.1872C>T (p.Asp624=)
c.1992C>T (p.Asp664=)
c.2025C>T (p.Asp675=)
c.2013C>T (p.Asp671=)
c.2004C>T (p.Asp668=)
c.1905C>T (p.Asp635=)
c.1893C>T (p.Asp631=)
c.1290C>T (p.Asp430=)
19g.18060005G>CCA404775243IL12RB1c.1872C>G (p.Asp624Glu)
c.1992C>G (p.Asp664Glu)
c.2025C>G (p.Asp675Glu)
c.2013C>G (p.Asp671Glu)
c.2004C>G (p.Asp668Glu)
c.1905C>G (p.Asp635Glu)
c.1893C>G (p.Asp631Glu)
c.1290C>G (p.Asp430Glu)
19g.18060005G>TCA404775245IL12RB1c.1872C>A (p.Asp624Glu)
c.1992C>A (p.Asp664Glu)
c.2025C>A (p.Asp675Glu)
c.2013C>A (p.Asp671Glu)
c.2004C>A (p.Asp668Glu)
c.1905C>A (p.Asp635Glu)
c.1893C>A (p.Asp631Glu)
c.1290C>A (p.Asp430Glu)
 gnomAD v4
19g.18060006T>ACA404775246IL12RB1c.1871A>T (p.Asp624Val)
c.1991A>T (p.Asp664Val)
c.2024A>T (p.Asp675Val)
c.2012A>T (p.Asp671Val)
c.2003A>T (p.Asp668Val)
c.1904A>T (p.Asp635Val)
c.1892A>T (p.Asp631Val)
c.1289A>T (p.Asp430Val)
19g.18060006T>CCA404775247IL12RB1c.1871A>G (p.Asp624Gly)
c.1991A>G (p.Asp664Gly)
c.2024A>G (p.Asp675Gly)
c.2012A>G (p.Asp671Gly)
c.2003A>G (p.Asp668Gly)
c.1904A>G (p.Asp635Gly)
c.1892A>G (p.Asp631Gly)
c.1289A>G (p.Asp430Gly)
19g.18060006T>GCA404775249IL12RB1c.1871A>C (p.Asp624Ala)
c.1991A>C (p.Asp664Ala)
c.2024A>C (p.Asp675Ala)
c.2012A>C (p.Asp671Ala)
c.2003A>C (p.Asp668Ala)
c.1904A>C (p.Asp635Ala)
c.1892A>C (p.Asp631Ala)
c.1289A>C (p.Asp430Ala)
19g.18060006_18060007delinsTCCA2326165183IL12RB1c.1870_1871delinsGA (p.Asp624=)
c.1990_1991delinsGA (p.Asp664=)
c.2023_2024delinsGA (p.Asp675=)
c.2011_2012delinsGA (p.Asp671=)
c.2002_2003delinsGA (p.Asp668=)
c.1903_1904delinsGA (p.Asp635=)
c.1891_1892delinsGA (p.Asp631=)
c.1288_1289delinsGA (p.Asp430=)
19g.18060007C>ACA404775250IL12RB1c.1870G>T (p.Asp624Tyr)
c.1990G>T (p.Asp664Tyr)
c.2023G>T (p.Asp675Tyr)
c.2011G>T (p.Asp671Tyr)
c.2002G>T (p.Asp668Tyr)
c.1903G>T (p.Asp635Tyr)
c.1891G>T (p.Asp631Tyr)
c.1288G>T (p.Asp430Tyr)
19g.18060007C>GCA404775252IL12RB1c.1870G>C (p.Asp624His)
c.1990G>C (p.Asp664His)
c.2023G>C (p.Asp675His)
c.2011G>C (p.Asp671His)
c.2002G>C (p.Asp668His)
c.1903G>C (p.Asp635His)
c.1891G>C (p.Asp631His)
c.1288G>C (p.Asp430His)
 gnomAD v4
19g.18060007C>TCA404775254IL12RB1c.1870G>A (p.Asp624Asn)
c.1990G>A (p.Asp664Asn)
c.2023G>A (p.Asp675Asn)
c.2011G>A (p.Asp671Asn)
c.2002G>A (p.Asp668Asn)
c.1903G>A (p.Asp635Asn)
c.1891G>A (p.Asp631Asn)
c.1288G>A (p.Asp430Asn)
19g.18060007_18060009delCA2576719413IL12RB1c.1868_1870del (p.Trp623_Asp624delinsTyr)
c.1988_1990del (p.Trp663_Asp664delinsTyr)
c.2021_2023del (p.Trp674_Asp675delinsTyr)
c.2009_2011del (p.Trp670_Asp671delinsTyr)
c.2000_2002del (p.Trp667_Asp668delinsTyr)
c.1901_1903del (p.Trp634_Asp635delinsTyr)
c.1889_1891del (p.Trp630_Asp631delinsTyr)
c.1286_1288del (p.Trp429_Asp430delinsTyr)
 gnomAD v4
19g.18060009delCA632136854IL12RB1c.1870del (p.Asp624ThrfsTer?)
c.1990del (p.Asp664ThrfsTer?)
c.2023del (p.Asp675ThrfsTer?)
c.2011del (p.Asp671ThrfsTer?)
c.2002del (p.Asp668ThrfsTer?)
c.1903del (p.Asp635ThrfsTer?)
c.1891del (p.Asp631ThrfsTer?)
c.1288del (p.Asp430ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18060008C>ACA404775258IL12RB1c.1869G>T (p.Trp623Cys)
c.1989G>T (p.Trp663Cys)
c.2022G>T (p.Trp674Cys)
c.2010G>T (p.Trp670Cys)
c.2001G>T (p.Trp667Cys)
c.1902G>T (p.Trp634Cys)
c.1890G>T (p.Trp630Cys)
c.1287G>T (p.Trp429Cys)
19g.18060008C>GCA404775260IL12RB1c.1869G>C (p.Trp623Cys)
c.1989G>C (p.Trp663Cys)
c.2022G>C (p.Trp674Cys)
c.2010G>C (p.Trp670Cys)
c.2001G>C (p.Trp667Cys)
c.1902G>C (p.Trp634Cys)
c.1890G>C (p.Trp630Cys)
c.1287G>C (p.Trp429Cys)
19g.18060008C>TCA404775256IL12RB1c.1869G>A (p.Trp623Ter)
c.1989G>A (p.Trp663Ter)
c.2022G>A (p.Trp674Ter)
c.2010G>A (p.Trp670Ter)
c.2001G>A (p.Trp667Ter)
c.1902G>A (p.Trp634Ter)
c.1890G>A (p.Trp630Ter)
c.1287G>A (p.Trp429Ter)
 gnomAD v4 COSMIC COSMIC
19g.18060009C>ACA404775261IL12RB1c.1868G>T (p.Trp623Leu)
c.1988G>T (p.Trp663Leu)
c.2021G>T (p.Trp674Leu)
c.2009G>T (p.Trp670Leu)
c.2000G>T (p.Trp667Leu)
c.1901G>T (p.Trp634Leu)
c.1889G>T (p.Trp630Leu)
c.1286G>T (p.Trp429Leu)
 gnomAD v4
19g.18060009C=CA2326165184IL12RB1c.1868G= (p.Trp623=)
c.1988G= (p.Trp663=)
c.2021G= (p.Trp674=)
c.2009G= (p.Trp670=)
c.2000G= (p.Trp667=)
c.1901G= (p.Trp634=)
c.1889G= (p.Trp630=)
c.1286G= (p.Trp429=)
19g.18060009C>GCA404775263IL12RB1c.1868G>C (p.Trp623Ser)
c.1988G>C (p.Trp663Ser)
c.2021G>C (p.Trp674Ser)
c.2009G>C (p.Trp670Ser)
c.2000G>C (p.Trp667Ser)
c.1901G>C (p.Trp634Ser)
c.1889G>C (p.Trp630Ser)
c.1286G>C (p.Trp429Ser)
19g.18060009C>TCA404775265IL12RB1c.1868G>A (p.Trp623Ter)
c.1988G>A (p.Trp663Ter)
c.2021G>A (p.Trp674Ter)
c.2009G>A (p.Trp670Ter)
c.2000G>A (p.Trp667Ter)
c.1901G>A (p.Trp634Ter)
c.1889G>A (p.Trp630Ter)
c.1286G>A (p.Trp429Ter)
 dbSNP gnomAD v2
19g.18060010A=CA2326165185IL12RB1c.1867T= (p.Trp623=)
c.1987T= (p.Trp663=)
c.2020T= (p.Trp674=)
c.2008T= (p.Trp670=)
c.1999T= (p.Trp667=)
c.1900T= (p.Trp634=)
c.1888T= (p.Trp630=)
c.1285T= (p.Trp429=)
19g.18060010A>CCA404775267IL12RB1c.1867T>G (p.Trp623Gly)
c.1987T>G (p.Trp663Gly)
c.2020T>G (p.Trp674Gly)
c.2008T>G (p.Trp670Gly)
c.1999T>G (p.Trp667Gly)
c.1900T>G (p.Trp634Gly)
c.1888T>G (p.Trp630Gly)
c.1285T>G (p.Trp429Gly)
 gnomAD v4
19g.18060010A>GCA404775270IL12RB1c.1867T>C (p.Trp623Arg)
c.1987T>C (p.Trp663Arg)
c.2020T>C (p.Trp674Arg)
c.2008T>C (p.Trp670Arg)
c.1999T>C (p.Trp667Arg)
c.1900T>C (p.Trp634Arg)
c.1888T>C (p.Trp630Arg)
c.1285T>C (p.Trp429Arg)
 ClinVar dbSNP
19g.18060010A>TCA404775272IL12RB1c.1867T>A (p.Trp623Arg)
c.1987T>A (p.Trp663Arg)
c.2020T>A (p.Trp674Arg)
c.2008T>A (p.Trp670Arg)
c.1999T>A (p.Trp667Arg)
c.1900T>A (p.Trp634Arg)
c.1888T>A (p.Trp630Arg)
c.1285T>A (p.Trp429Arg)
19g.18060011G>ACA506026183IL12RB1c.1866C>T (p.Ser622=)
c.1986C>T (p.Ser662=)
c.2019C>T (p.Ser673=)
c.2007C>T (p.Ser669=)
c.1998C>T (p.Ser666=)
c.1899C>T (p.Ser633=)
c.1887C>T (p.Ser629=)
c.1284C>T (p.Ser428=)
 gnomAD v4
19g.18060011G>CCA9304664IL12RB1c.1866C>G (p.Ser622=)
c.1986C>G (p.Ser662=)
c.2019C>G (p.Ser673=)
c.2007C>G (p.Ser669=)
c.1998C>G (p.Ser666=)
c.1899C>G (p.Ser633=)
c.1887C>G (p.Ser629=)
c.1284C>G (p.Ser428=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18060011G=CA2326165186IL12RB1c.1866C= (p.Ser622=)
c.1986C= (p.Ser662=)
c.2019C= (p.Ser673=)
c.2007C= (p.Ser669=)
c.1998C= (p.Ser666=)
c.1899C= (p.Ser633=)
c.1887C= (p.Ser629=)
c.1284C= (p.Ser428=)
19g.18060011G>TCA506026186IL12RB1c.1866C>A (p.Ser622=)
c.1986C>A (p.Ser662=)
c.2019C>A (p.Ser673=)
c.2007C>A (p.Ser669=)
c.1998C>A (p.Ser666=)
c.1899C>A (p.Ser633=)
c.1887C>A (p.Ser629=)
c.1284C>A (p.Ser428=)
 gnomAD v4
19g.18060012G>ACA404775275IL12RB1c.1865C>T (p.Ser622Phe)
c.1985C>T (p.Ser662Phe)
c.2018C>T (p.Ser673Phe)
c.2006C>T (p.Ser669Phe)
c.1997C>T (p.Ser666Phe)
c.1898C>T (p.Ser633Phe)
c.1886C>T (p.Ser629Phe)
c.1283C>T (p.Ser428Phe)
19g.18060012G>CCA404775276IL12RB1c.1865C>G (p.Ser622Cys)
c.1985C>G (p.Ser662Cys)
c.2018C>G (p.Ser673Cys)
c.2006C>G (p.Ser669Cys)
c.1997C>G (p.Ser666Cys)
c.1898C>G (p.Ser633Cys)
c.1886C>G (p.Ser629Cys)
c.1283C>G (p.Ser428Cys)
19g.18060012G>TCA404775278IL12RB1c.1865C>A (p.Ser622Tyr)
c.1985C>A (p.Ser662Tyr)
c.2018C>A (p.Ser673Tyr)
c.2006C>A (p.Ser669Tyr)
c.1997C>A (p.Ser666Tyr)
c.1898C>A (p.Ser633Tyr)
c.1886C>A (p.Ser629Tyr)
c.1283C>A (p.Ser428Tyr)
19g.18060013A=CA2326165187IL12RB1c.1864T= (p.Ser622=)
c.1984T= (p.Ser662=)
c.2017T= (p.Ser673=)
c.2005T= (p.Ser669=)
c.1996T= (p.Ser666=)
c.1897T= (p.Ser633=)
c.1885T= (p.Ser629=)
c.1282T= (p.Ser428=)
19g.18060013A>CCA404775279IL12RB1c.1864T>G (p.Ser622Ala)
c.1984T>G (p.Ser662Ala)
c.2017T>G (p.Ser673Ala)
c.2005T>G (p.Ser669Ala)
c.1996T>G (p.Ser666Ala)
c.1897T>G (p.Ser633Ala)
c.1885T>G (p.Ser629Ala)
c.1282T>G (p.Ser428Ala)
19g.18060013A>GCA404775280IL12RB1c.1864T>C (p.Ser622Pro)
c.1984T>C (p.Ser662Pro)
c.2017T>C (p.Ser673Pro)
c.2005T>C (p.Ser669Pro)
c.1996T>C (p.Ser666Pro)
c.1897T>C (p.Ser633Pro)
c.1885T>C (p.Ser629Pro)
c.1282T>C (p.Ser428Pro)
 gnomAD v4
19g.18060013A>TCA404775282IL12RB1c.1864T>A (p.Ser622Thr)
c.1984T>A (p.Ser662Thr)
c.2017T>A (p.Ser673Thr)
c.2005T>A (p.Ser669Thr)
c.1996T>A (p.Ser666Thr)
c.1897T>A (p.Ser633Thr)
c.1885T>A (p.Ser629Thr)
c.1282T>A (p.Ser428Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.18060014C>ACA404775288IL12RB1c.1863G>T (p.Met621Ile)
c.1983G>T (p.Met661Ile)
c.2016G>T (p.Met672Ile)
c.2004G>T (p.Met668Ile)
c.1995G>T (p.Met665Ile)
c.1896G>T (p.Met632Ile)
c.1884G>T (p.Met628Ile)
c.1281G>T (p.Met427Ile)
19g.18060014C>GCA404775286IL12RB1c.1863G>C (p.Met621Ile)
c.1983G>C (p.Met661Ile)
c.2016G>C (p.Met672Ile)
c.2004G>C (p.Met668Ile)
c.1995G>C (p.Met665Ile)
c.1896G>C (p.Met632Ile)
c.1884G>C (p.Met628Ile)
c.1281G>C (p.Met427Ile)
19g.18060014C>TCA404775285IL12RB1c.1863G>A (p.Met621Ile)
c.1983G>A (p.Met661Ile)
c.2016G>A (p.Met672Ile)
c.2004G>A (p.Met668Ile)
c.1995G>A (p.Met665Ile)
c.1896G>A (p.Met632Ile)
c.1884G>A (p.Met628Ile)
c.1281G>A (p.Met427Ile)
19g.18060015A=CA2326165188IL12RB1c.1862T= (p.Met621=)
c.1982T= (p.Met661=)
c.2015T= (p.Met672=)
c.2003T= (p.Met668=)
c.1994T= (p.Met665=)
c.1895T= (p.Met632=)
c.1883T= (p.Met628=)
c.1280T= (p.Met427=)
19g.18060015A>CCA404775290IL12RB1c.1862T>G (p.Met621Arg)
c.1982T>G (p.Met661Arg)
c.2015T>G (p.Met672Arg)
c.2003T>G (p.Met668Arg)
c.1994T>G (p.Met665Arg)
c.1895T>G (p.Met632Arg)
c.1883T>G (p.Met628Arg)
c.1280T>G (p.Met427Arg)
19g.18060015A>GCA404775291IL12RB1c.1862T>C (p.Met621Thr)
c.1982T>C (p.Met661Thr)
c.2015T>C (p.Met672Thr)
c.2003T>C (p.Met668Thr)
c.1994T>C (p.Met665Thr)
c.1895T>C (p.Met632Thr)
c.1883T>C (p.Met628Thr)
c.1280T>C (p.Met427Thr)
19g.18060015A>TCA404775292IL12RB1c.1862T>A (p.Met621Lys)
c.1982T>A (p.Met661Lys)
c.2015T>A (p.Met672Lys)
c.2003T>A (p.Met668Lys)
c.1994T>A (p.Met665Lys)
c.1895T>A (p.Met632Lys)
c.1883T>A (p.Met628Lys)
c.1280T>A (p.Met427Lys)
 dbSNP
19g.18060016T>ACA404775296IL12RB1c.1861A>T (p.Met621Leu)
c.1981A>T (p.Met661Leu)
c.2014A>T (p.Met672Leu)
c.2002A>T (p.Met668Leu)
c.1993A>T (p.Met665Leu)
c.1894A>T (p.Met632Leu)
c.1882A>T (p.Met628Leu)
c.1279A>T (p.Met427Leu)
19g.18060016T>CCA404775297IL12RB1c.1861A>G (p.Met621Val)
c.1981A>G (p.Met661Val)
c.2014A>G (p.Met672Val)
c.2002A>G (p.Met668Val)
c.1993A>G (p.Met665Val)
c.1894A>G (p.Met632Val)
c.1882A>G (p.Met628Val)
c.1279A>G (p.Met427Val)
19g.18060016T>GCA404775299IL12RB1c.1861A>C (p.Met621Leu)
c.1981A>C (p.Met661Leu)
c.2014A>C (p.Met672Leu)
c.2002A>C (p.Met668Leu)
c.1993A>C (p.Met665Leu)
c.1894A>C (p.Met632Leu)
c.1882A>C (p.Met628Leu)
c.1279A>C (p.Met427Leu)
19g.18060017C>ACA9304665IL12RB1c.1860G>T (p.Glu620Asp)
c.1980G>T (p.Glu660Asp)
c.2013G>T (p.Glu671Asp)
c.2001G>T (p.Glu667Asp)
c.1992G>T (p.Glu664Asp)
c.1893G>T (p.Glu631Asp)
c.1881G>T (p.Glu627Asp)
c.1278G>T (p.Glu426Asp)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.18060017C=CA2326165189IL12RB1c.1860G= (p.Glu620=)
c.1980G= (p.Glu660=)
c.2013G= (p.Glu671=)
c.2001G= (p.Glu667=)
c.1992G= (p.Glu664=)
c.1893G= (p.Glu631=)
c.1881G= (p.Glu627=)
c.1278G= (p.Glu426=)
19g.18060017C>GCA404775302IL12RB1c.1860G>C (p.Glu620Asp)
c.1980G>C (p.Glu660Asp)
c.2013G>C (p.Glu671Asp)
c.2001G>C (p.Glu667Asp)
c.1992G>C (p.Glu664Asp)
c.1893G>C (p.Glu631Asp)
c.1881G>C (p.Glu627Asp)
c.1278G>C (p.Glu426Asp)
 dbSNP gnomAD v3 gnomAD v4
19g.18060017C>TCA506026208IL12RB1c.1860G>A (p.Glu620=)
c.1980G>A (p.Glu660=)
c.2013G>A (p.Glu671=)
c.2001G>A (p.Glu667=)
c.1992G>A (p.Glu664=)
c.1893G>A (p.Glu631=)
c.1881G>A (p.Glu627=)
c.1278G>A (p.Glu426=)
19g.18060018T>ACA404775305IL12RB1c.1859A>T (p.Glu620Val)
c.1979A>T (p.Glu660Val)
c.2012A>T (p.Glu671Val)
c.2000A>T (p.Glu667Val)
c.1991A>T (p.Glu664Val)
c.1892A>T (p.Glu631Val)
c.1880A>T (p.Glu627Val)
c.1277A>T (p.Glu426Val)
19g.18060018T>CCA404775307IL12RB1c.1859A>G (p.Glu620Gly)
c.1979A>G (p.Glu660Gly)
c.2012A>G (p.Glu671Gly)
c.2000A>G (p.Glu667Gly)
c.1991A>G (p.Glu664Gly)
c.1892A>G (p.Glu631Gly)
c.1880A>G (p.Glu627Gly)
c.1277A>G (p.Glu426Gly)
19g.18060018T>GCA404775308IL12RB1c.1859A>C (p.Glu620Ala)
c.1979A>C (p.Glu660Ala)
c.2012A>C (p.Glu671Ala)
c.2000A>C (p.Glu667Ala)
c.1991A>C (p.Glu664Ala)
c.1892A>C (p.Glu631Ala)
c.1880A>C (p.Glu627Ala)
c.1277A>C (p.Glu426Ala)
19g.18060019C>ACA404775310IL12RB1c.1858G>T (p.Glu620Ter)
c.1978G>T (p.Glu660Ter)
c.2011G>T (p.Glu671Ter)
c.1999G>T (p.Glu667Ter)
c.1990G>T (p.Glu664Ter)
c.1891G>T (p.Glu631Ter)
c.1879G>T (p.Glu627Ter)
c.1276G>T (p.Glu426Ter)
19g.18060019C>GCA404775312IL12RB1c.1858G>C (p.Glu620Gln)
c.1978G>C (p.Glu660Gln)
c.2011G>C (p.Glu671Gln)
c.1999G>C (p.Glu667Gln)
c.1990G>C (p.Glu664Gln)
c.1891G>C (p.Glu631Gln)
c.1879G>C (p.Glu627Gln)
c.1276G>C (p.Glu426Gln)
19g.18060019C>TCA404775313IL12RB1c.1858G>A (p.Glu620Lys)
c.1978G>A (p.Glu660Lys)
c.2011G>A (p.Glu671Lys)
c.1999G>A (p.Glu667Lys)
c.1990G>A (p.Glu664Lys)
c.1891G>A (p.Glu631Lys)
c.1879G>A (p.Glu627Lys)
c.1276G>A (p.Glu426Lys)
19g.18060020T>ACA506026215IL12RB1c.1857A>T (p.Val619=)
c.1977A>T (p.Val659=)
c.2010A>T (p.Val670=)
c.1998A>T (p.Val666=)
c.1989A>T (p.Val663=)
c.1890A>T (p.Val630=)
c.1878A>T (p.Val626=)
c.1275A>T (p.Val425=)
19g.18060020T>CCA9304666IL12RB1c.1857A>G (p.Val619=)
c.1977A>G (p.Val659=)
c.2010A>G (p.Val670=)
c.1998A>G (p.Val666=)
c.1989A>G (p.Val663=)
c.1890A>G (p.Val630=)
c.1878A>G (p.Val626=)
c.1275A>G (p.Val425=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.18060020T>GCA506026218IL12RB1c.1857A>C (p.Val619=)
c.1977A>C (p.Val659=)
c.2010A>C (p.Val670=)
c.1998A>C (p.Val666=)
c.1989A>C (p.Val663=)
c.1890A>C (p.Val630=)
c.1878A>C (p.Val626=)
c.1275A>C (p.Val425=)
19g.18060020T=CA2326165190IL12RB1c.1857A= (p.Val619=)
c.1977A= (p.Val659=)
c.2010A= (p.Val670=)
c.1998A= (p.Val666=)
c.1989A= (p.Val663=)
c.1890A= (p.Val630=)
c.1878A= (p.Val626=)
c.1275A= (p.Val425=)
19g.18060021A=CA2326165191IL12RB1c.1856T= (p.Val619=)
c.1976T= (p.Val659=)
c.2009T= (p.Val670=)
c.1997T= (p.Val666=)
c.1988T= (p.Val663=)
c.1889T= (p.Val630=)
c.1877T= (p.Val626=)
c.1274T= (p.Val425=)
19g.18060021A>CCA404775319IL12RB1c.1856T>G (p.Val619Gly)
c.1976T>G (p.Val659Gly)
c.2009T>G (p.Val670Gly)
c.1997T>G (p.Val666Gly)
c.1988T>G (p.Val663Gly)
c.1889T>G (p.Val630Gly)
c.1877T>G (p.Val626Gly)
c.1274T>G (p.Val425Gly)
19g.18060021A>GCA404775321IL12RB1c.1856T>C (p.Val619Ala)
c.1976T>C (p.Val659Ala)
c.2009T>C (p.Val670Ala)
c.1997T>C (p.Val666Ala)
c.1988T>C (p.Val663Ala)
c.1889T>C (p.Val630Ala)
c.1877T>C (p.Val626Ala)
c.1274T>C (p.Val425Ala)
 ClinVar dbSNP
19g.18060021A>TCA404775317IL12RB1c.1856T>A (p.Val619Glu)
c.1976T>A (p.Val659Glu)
c.2009T>A (p.Val670Glu)
c.1997T>A (p.Val666Glu)
c.1988T>A (p.Val663Glu)
c.1889T>A (p.Val630Glu)
c.1877T>A (p.Val626Glu)
c.1274T>A (p.Val425Glu)
19g.18060022C>ACA404775324IL12RB1c.1855G>T (p.Val619Leu)
c.1975G>T (p.Val659Leu)
c.2008G>T (p.Val670Leu)
c.1996G>T (p.Val666Leu)
c.1987G>T (p.Val663Leu)
c.1888G>T (p.Val630Leu)
c.1876G>T (p.Val626Leu)
c.1273G>T (p.Val425Leu)
 dbSNP
19g.18060022C=CA2326165192IL12RB1c.1855G= (p.Val619=)
c.1975G= (p.Val659=)
c.2008G= (p.Val670=)
c.1996G= (p.Val666=)
c.1987G= (p.Val663=)
c.1888G= (p.Val630=)
c.1876G= (p.Val626=)
c.1273G= (p.Val425=)
19g.18060022C>GCA404775326IL12RB1c.1855G>C (p.Val619Leu)
c.1975G>C (p.Val659Leu)
c.2008G>C (p.Val670Leu)
c.1996G>C (p.Val666Leu)
c.1987G>C (p.Val663Leu)
c.1888G>C (p.Val630Leu)
c.1876G>C (p.Val626Leu)
c.1273G>C (p.Val425Leu)
19g.18060022C>TCA404775327IL12RB1c.1855G>A (p.Val619Ile)
c.1975G>A (p.Val659Ile)
c.2008G>A (p.Val670Ile)
c.1996G>A (p.Val666Ile)
c.1987G>A (p.Val663Ile)
c.1888G>A (p.Val630Ile)
c.1876G>A (p.Val626Ile)
c.1273G>A (p.Val425Ile)
 gnomAD v4
19g.18060023C>ACA506026227IL12RB1c.1854G>T (p.Val618=)
c.1974G>T (p.Val658=)
c.2007G>T (p.Val669=)
c.1995G>T (p.Val665=)
c.1986G>T (p.Val662=)
c.1887G>T (p.Val629=)
c.1875G>T (p.Val625=)
c.1272G>T (p.Val424=)
 gnomAD v4
19g.18060023C>GCA506026229IL12RB1c.1854G>C (p.Val618=)
c.1974G>C (p.Val658=)
c.2007G>C (p.Val669=)
c.1995G>C (p.Val665=)
c.1986G>C (p.Val662=)
c.1887G>C (p.Val629=)
c.1875G>C (p.Val625=)
c.1272G>C (p.Val424=)
19g.18060023C>TCA506026230IL12RB1c.1854G>A (p.Val618=)
c.1974G>A (p.Val658=)
c.2007G>A (p.Val669=)
c.1995G>A (p.Val665=)
c.1986G>A (p.Val662=)
c.1887G>A (p.Val629=)
c.1875G>A (p.Val625=)
c.1272G>A (p.Val424=)
 gnomAD v4
19g.18060024A=CA2326165193IL12RB1c.1853T= (p.Val618=)
c.1973T= (p.Val658=)
c.2006T= (p.Val669=)
c.1994T= (p.Val665=)
c.1985T= (p.Val662=)
c.1886T= (p.Val629=)
c.1874T= (p.Val625=)
c.1271T= (p.Val424=)
19g.18060024A>CCA404775330IL12RB1c.1853T>G (p.Val618Gly)
c.1973T>G (p.Val658Gly)
c.2006T>G (p.Val669Gly)
c.1994T>G (p.Val665Gly)
c.1985T>G (p.Val662Gly)
c.1886T>G (p.Val629Gly)
c.1874T>G (p.Val625Gly)
c.1271T>G (p.Val424Gly)
19g.18060024A>GCA306158810IL12RB1c.1853T>C (p.Val618Ala)
c.1973T>C (p.Val658Ala)
c.2006T>C (p.Val669Ala)
c.1994T>C (p.Val665Ala)
c.1985T>C (p.Val662Ala)
c.1886T>C (p.Val629Ala)
c.1874T>C (p.Val625Ala)
c.1271T>C (p.Val424Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18060024A>TCA404775333IL12RB1c.1853T>A (p.Val618Glu)
c.1973T>A (p.Val658Glu)
c.2006T>A (p.Val669Glu)
c.1994T>A (p.Val665Glu)
c.1985T>A (p.Val662Glu)
c.1886T>A (p.Val629Glu)
c.1874T>A (p.Val625Glu)
c.1271T>A (p.Val424Glu)
19g.18060025C>ACA404775334IL12RB1c.1852G>T (p.Val618Leu)
c.1972G>T (p.Val658Leu)
c.2005G>T (p.Val669Leu)
c.1993G>T (p.Val665Leu)
c.1984G>T (p.Val662Leu)
c.1885G>T (p.Val629Leu)
c.1873G>T (p.Val625Leu)
c.1270G>T (p.Val424Leu)
19g.18060025C=CA2326165194IL12RB1c.1852G= (p.Val618=)
c.1972G= (p.Val658=)
c.2005G= (p.Val669=)
c.1993G= (p.Val665=)
c.1984G= (p.Val662=)
c.1885G= (p.Val629=)
c.1873G= (p.Val625=)
c.1270G= (p.Val424=)
19g.18060025C>GCA404775336IL12RB1c.1852G>C (p.Val618Leu)
c.1972G>C (p.Val658Leu)
c.2005G>C (p.Val669Leu)
c.1993G>C (p.Val665Leu)
c.1984G>C (p.Val662Leu)
c.1885G>C (p.Val629Leu)
c.1873G>C (p.Val625Leu)
c.1270G>C (p.Val424Leu)
19g.18060025C>TCA9304667IL12RB1c.1852G>A (p.Val618Met)
c.1972G>A (p.Val658Met)
c.2005G>A (p.Val669Met)
c.1993G>A (p.Val665Met)
c.1984G>A (p.Val662Met)
c.1885G>A (p.Val629Met)
c.1873G>A (p.Val625Met)
c.1270G>A (p.Val424Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18060026C>ACA506026246IL12RB1c.1851G>T (p.Leu617=)
c.1971G>T (p.Leu657=)
c.2004G>T (p.Leu668=)
c.1992G>T (p.Leu664=)
c.1983G>T (p.Leu661=)
c.1884G>T (p.Leu628=)
c.1872G>T (p.Leu624=)
c.1269G>T (p.Leu423=)
 gnomAD v4
19g.18060026C>GCA506026243IL12RB1c.1851G>C (p.Leu617=)
c.1971G>C (p.Leu657=)
c.2004G>C (p.Leu668=)
c.1992G>C (p.Leu664=)
c.1983G>C (p.Leu661=)
c.1884G>C (p.Leu628=)
c.1872G>C (p.Leu624=)
c.1269G>C (p.Leu423=)
19g.18060026C>TCA506026244IL12RB1c.1851G>A (p.Leu617=)
c.1971G>A (p.Leu657=)
c.2004G>A (p.Leu668=)
c.1992G>A (p.Leu664=)
c.1983G>A (p.Leu661=)
c.1884G>A (p.Leu628=)
c.1872G>A (p.Leu624=)
c.1269G>A (p.Leu423=)
 ClinVar gnomAD v4
19g.18060027A=CA2326165195IL12RB1c.1850T= (p.Leu617=)
c.1970T= (p.Leu657=)
c.2003T= (p.Leu668=)
c.1991T= (p.Leu664=)
c.1982T= (p.Leu661=)
c.1883T= (p.Leu628=)
c.1871T= (p.Leu624=)
c.1268T= (p.Leu423=)
19g.18060027A>CCA404775340IL12RB1c.1850T>G (p.Leu617Arg)
c.1970T>G (p.Leu657Arg)
c.2003T>G (p.Leu668Arg)
c.1991T>G (p.Leu664Arg)
c.1982T>G (p.Leu661Arg)
c.1883T>G (p.Leu628Arg)
c.1871T>G (p.Leu624Arg)
c.1268T>G (p.Leu423Arg)
19g.18060027A>GCA404775342IL12RB1c.1850T>C (p.Leu617Pro)
c.1970T>C (p.Leu657Pro)
c.2003T>C (p.Leu668Pro)
c.1991T>C (p.Leu664Pro)
c.1982T>C (p.Leu661Pro)
c.1883T>C (p.Leu628Pro)
c.1871T>C (p.Leu624Pro)
c.1268T>C (p.Leu423Pro)
 dbSNP
19g.18060027A>TCA404775344IL12RB1c.1850T>A (p.Leu617Gln)
c.1970T>A (p.Leu657Gln)
c.2003T>A (p.Leu668Gln)
c.1991T>A (p.Leu664Gln)
c.1982T>A (p.Leu661Gln)
c.1883T>A (p.Leu628Gln)
c.1871T>A (p.Leu624Gln)
c.1268T>A (p.Leu423Gln)
19g.18060028G>ACA506026252IL12RB1c.1849C>T (p.Leu617=)
c.1969C>T (p.Leu657=)
c.2002C>T (p.Leu668=)
c.1990C>T (p.Leu664=)
c.1981C>T (p.Leu661=)
c.1882C>T (p.Leu628=)
c.1870C>T (p.Leu624=)
c.1267C>T (p.Leu423=)
19g.18060028G>CCA404775346IL12RB1c.1849C>G (p.Leu617Val)
c.1969C>G (p.Leu657Val)
c.2002C>G (p.Leu668Val)
c.1990C>G (p.Leu664Val)
c.1981C>G (p.Leu661Val)
c.1882C>G (p.Leu628Val)
c.1870C>G (p.Leu624Val)
c.1267C>G (p.Leu423Val)
19g.18060028G>TCA404775348IL12RB1c.1849C>A (p.Leu617Met)
c.1969C>A (p.Leu657Met)
c.2002C>A (p.Leu668Met)
c.1990C>A (p.Leu664Met)
c.1981C>A (p.Leu661Met)
c.1882C>A (p.Leu628Met)
c.1870C>A (p.Leu624Met)
c.1267C>A (p.Leu423Met)
 gnomAD v4
19g.18060029G>ACA9304668IL12RB1c.1848C>T (p.Ala616=)
c.1968C>T (p.Ala656=)
c.2001C>T (p.Ala667=)
c.1989C>T (p.Ala663=)
c.1980C>T (p.Ala660=)
c.1881C>T (p.Ala627=)
c.1869C>T (p.Ala623=)
c.1266C>T (p.Ala422=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18060029G>CCA506026256IL12RB1c.1848C>G (p.Ala616=)
c.1968C>G (p.Ala656=)
c.2001C>G (p.Ala667=)
c.1989C>G (p.Ala663=)
c.1980C>G (p.Ala660=)
c.1881C>G (p.Ala627=)
c.1869C>G (p.Ala623=)
c.1266C>G (p.Ala422=)
19g.18060029G=CA2326165196IL12RB1c.1848C= (p.Ala616=)
c.1968C= (p.Ala656=)
c.2001C= (p.Ala667=)
c.1989C= (p.Ala663=)
c.1980C= (p.Ala660=)
c.1881C= (p.Ala627=)
c.1869C= (p.Ala623=)
c.1266C= (p.Ala422=)
19g.18060029G>TCA506026257IL12RB1c.1848C>A (p.Ala616=)
c.1968C>A (p.Ala656=)
c.2001C>A (p.Ala667=)
c.1989C>A (p.Ala663=)
c.1980C>A (p.Ala660=)
c.1881C>A (p.Ala627=)
c.1869C>A (p.Ala623=)
c.1266C>A (p.Ala422=)
19g.18060030G>ACA404775350IL12RB1c.1847C>T (p.Ala616Val)
c.1967C>T (p.Ala656Val)
c.2000C>T (p.Ala667Val)
c.1988C>T (p.Ala663Val)
c.1979C>T (p.Ala660Val)
c.1880C>T (p.Ala627Val)
c.1868C>T (p.Ala623Val)
c.1265C>T (p.Ala422Val)
 dbSNP gnomAD v2
19g.18060030G>CCA404775352IL12RB1c.1847C>G (p.Ala616Gly)
c.1967C>G (p.Ala656Gly)
c.2000C>G (p.Ala667Gly)
c.1988C>G (p.Ala663Gly)
c.1979C>G (p.Ala660Gly)
c.1880C>G (p.Ala627Gly)
c.1868C>G (p.Ala623Gly)
c.1265C>G (p.Ala422Gly)
19g.18060030G=CA2326165197IL12RB1c.1847C= (p.Ala616=)
c.1967C= (p.Ala656=)
c.2000C= (p.Ala667=)
c.1988C= (p.Ala663=)
c.1979C= (p.Ala660=)
c.1880C= (p.Ala627=)
c.1868C= (p.Ala623=)
c.1265C= (p.Ala422=)
19g.18060030G>TCA404775354IL12RB1c.1847C>A (p.Ala616Asp)
c.1967C>A (p.Ala656Asp)
c.2000C>A (p.Ala667Asp)
c.1988C>A (p.Ala663Asp)
c.1979C>A (p.Ala660Asp)
c.1880C>A (p.Ala627Asp)
c.1868C>A (p.Ala623Asp)
c.1265C>A (p.Ala422Asp)
 dbSNP gnomAD v3 gnomAD v4
19g.18060031C>ACA404775356IL12RB1c.1846G>T (p.Ala616Ser)
c.1966G>T (p.Ala656Ser)
c.1999G>T (p.Ala667Ser)
c.1987G>T (p.Ala663Ser)
c.1978G>T (p.Ala660Ser)
c.1879G>T (p.Ala627Ser)
c.1867G>T (p.Ala623Ser)
c.1264G>T (p.Ala422Ser)
19g.18060031C>GCA404775359IL12RB1c.1846G>C (p.Ala616Pro)
c.1966G>C (p.Ala656Pro)
c.1999G>C (p.Ala667Pro)
c.1987G>C (p.Ala663Pro)
c.1978G>C (p.Ala660Pro)
c.1879G>C (p.Ala627Pro)
c.1867G>C (p.Ala623Pro)
c.1264G>C (p.Ala422Pro)
19g.18060031C>TCA404775360IL12RB1c.1846G>A (p.Ala616Thr)
c.1966G>A (p.Ala656Thr)
c.1999G>A (p.Ala667Thr)
c.1987G>A (p.Ala663Thr)
c.1978G>A (p.Ala660Thr)
c.1879G>A (p.Ala627Thr)
c.1867G>A (p.Ala623Thr)
c.1264G>A (p.Ala422Thr)
 gnomAD v4
19g.18060032C>ACA404775363IL12RB1c.1845G>T (p.Glu615Asp)
c.1965G>T (p.Glu655Asp)
c.1998G>T (p.Glu666Asp)
c.1986G>T (p.Glu662Asp)
c.1977G>T (p.Glu659Asp)
c.1878G>T (p.Glu626Asp)
c.1866G>T (p.Glu622Asp)
c.1263G>T (p.Glu421Asp)
19g.18060032C>GCA404775364IL12RB1c.1845G>C (p.Glu615Asp)
c.1965G>C (p.Glu655Asp)
c.1998G>C (p.Glu666Asp)
c.1986G>C (p.Glu662Asp)
c.1977G>C (p.Glu659Asp)
c.1878G>C (p.Glu626Asp)
c.1866G>C (p.Glu622Asp)
c.1263G>C (p.Glu421Asp)
19g.18060032C>TCA506026271IL12RB1c.1845G>A (p.Glu615=)
c.1965G>A (p.Glu655=)
c.1998G>A (p.Glu666=)
c.1986G>A (p.Glu662=)
c.1977G>A (p.Glu659=)
c.1878G>A (p.Glu626=)
c.1866G>A (p.Glu622=)
c.1263G>A (p.Glu421=)
19g.18060033T>ACA404775366IL12RB1c.1844A>T (p.Glu615Val)
c.1964A>T (p.Glu655Val)
c.1997A>T (p.Glu666Val)
c.1985A>T (p.Glu662Val)
c.1976A>T (p.Glu659Val)
c.1877A>T (p.Glu626Val)
c.1865A>T (p.Glu622Val)
c.1262A>T (p.Glu421Val)
19g.18060033T>CCA404775368IL12RB1c.1844A>G (p.Glu615Gly)
c.1964A>G (p.Glu655Gly)
c.1997A>G (p.Glu666Gly)
c.1985A>G (p.Glu662Gly)
c.1976A>G (p.Glu659Gly)
c.1877A>G (p.Glu626Gly)
c.1865A>G (p.Glu622Gly)
c.1262A>G (p.Glu421Gly)
19g.18060033T>GCA404775369IL12RB1c.1844A>C (p.Glu615Ala)
c.1964A>C (p.Glu655Ala)
c.1997A>C (p.Glu666Ala)
c.1985A>C (p.Glu662Ala)
c.1976A>C (p.Glu659Ala)
c.1877A>C (p.Glu626Ala)
c.1865A>C (p.Glu622Ala)
c.1262A>C (p.Glu421Ala)
19g.18060034C>ACA404775371IL12RB1c.1843G>T (p.Glu615Ter)
c.1963G>T (p.Glu655Ter)
c.1996G>T (p.Glu666Ter)
c.1984G>T (p.Glu662Ter)
c.1975G>T (p.Glu659Ter)
c.1876G>T (p.Glu626Ter)
c.1864G>T (p.Glu622Ter)
c.1261G>T (p.Glu421Ter)
19g.18060034C=CA2326165198IL12RB1c.1843G= (p.Glu615=)
c.1963G= (p.Glu655=)
c.1996G= (p.Glu666=)
c.1984G= (p.Glu662=)
c.1975G= (p.Glu659=)
c.1876G= (p.Glu626=)
c.1864G= (p.Glu622=)
c.1261G= (p.Glu421=)
19g.18060034C>GCA404775379IL12RB1c.1843G>C (p.Glu615Gln)
c.1963G>C (p.Glu655Gln)
c.1996G>C (p.Glu666Gln)
c.1984G>C (p.Glu662Gln)
c.1975G>C (p.Glu659Gln)
c.1876G>C (p.Glu626Gln)
c.1864G>C (p.Glu622Gln)
c.1261G>C (p.Glu421Gln)
19g.18060034C>TCA404775382IL12RB1c.1843G>A (p.Glu615Lys)
c.1963G>A (p.Glu655Lys)
c.1996G>A (p.Glu666Lys)
c.1984G>A (p.Glu662Lys)
c.1975G>A (p.Glu659Lys)
c.1876G>A (p.Glu626Lys)
c.1864G>A (p.Glu622Lys)
c.1261G>A (p.Glu421Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18060035C>ACA404775386IL12RB1c.1842G>T (p.Gln614His)
c.1962G>T (p.Gln654His)
c.1995G>T (p.Gln665His)
c.1983G>T (p.Gln661His)
c.1974G>T (p.Gln658His)
c.1875G>T (p.Gln625His)
c.1863G>T (p.Gln621His)
c.1260G>T (p.Gln420His)
19g.18060035C=CA2326165199IL12RB1c.1842G= (p.Gln614=)
c.1962G= (p.Gln654=)
c.1995G= (p.Gln665=)
c.1983G= (p.Gln661=)
c.1974G= (p.Gln658=)
c.1875G= (p.Gln625=)
c.1863G= (p.Gln621=)
c.1260G= (p.Gln420=)
19g.18060035C>GCA404775387IL12RB1c.1842G>C (p.Gln614His)
c.1962G>C (p.Gln654His)
c.1995G>C (p.Gln665His)
c.1983G>C (p.Gln661His)
c.1974G>C (p.Gln658His)
c.1875G>C (p.Gln625His)
c.1863G>C (p.Gln621His)
c.1260G>C (p.Gln420His)
19g.18060035C>TCA9304669IL12RB1c.1842G>A (p.Gln614=)
c.1962G>A (p.Gln654=)
c.1995G>A (p.Gln665=)
c.1983G>A (p.Gln661=)
c.1974G>A (p.Gln658=)
c.1875G>A (p.Gln625=)
c.1863G>A (p.Gln621=)
c.1260G>A (p.Gln420=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18060036T>ACA404775391IL12RB1c.1841A>T (p.Gln614Leu)
c.1961A>T (p.Gln654Leu)
c.1994A>T (p.Gln665Leu)
c.1982A>T (p.Gln661Leu)
c.1973A>T (p.Gln658Leu)
c.1874A>T (p.Gln625Leu)
c.1862A>T (p.Gln621Leu)
c.1259A>T (p.Gln420Leu)
 COSMIC
19g.18060036T>CCA404775390IL12RB1c.1841A>G (p.Gln614Arg)
c.1961A>G (p.Gln654Arg)
c.1994A>G (p.Gln665Arg)
c.1982A>G (p.Gln661Arg)
c.1973A>G (p.Gln658Arg)
c.1874A>G (p.Gln625Arg)
c.1862A>G (p.Gln621Arg)
c.1259A>G (p.Gln420Arg)
 dbSNP
19g.18060036T>GCA404775392IL12RB1c.1841A>C (p.Gln614Pro)
c.1961A>C (p.Gln654Pro)
c.1994A>C (p.Gln665Pro)
c.1982A>C (p.Gln661Pro)
c.1973A>C (p.Gln658Pro)
c.1874A>C (p.Gln625Pro)
c.1862A>C (p.Gln621Pro)
c.1259A>C (p.Gln420Pro)
19g.18060036T=CA2326165200IL12RB1c.1841A= (p.Gln614=)
c.1961A= (p.Gln654=)
c.1994A= (p.Gln665=)
c.1982A= (p.Gln661=)
c.1973A= (p.Gln658=)
c.1874A= (p.Gln625=)
c.1862A= (p.Gln621=)
c.1259A= (p.Gln420=)
19g.18060037delCA2576719414IL12RB1c.1840del (p.Gln614ArgfsTer6)
c.1960del (p.Gln654ArgfsTer6)
c.1993del (p.Gln665ArgfsTer6)
c.1981del (p.Gln661ArgfsTer6)
c.1972del (p.Gln658ArgfsTer6)
c.1873del (p.Gln625ArgfsTer6)
c.1861del (p.Gln621ArgfsTer6)
c.1258del (p.Gln420ArgfsTer6)
19g.18060037G>ACA404775393IL12RB1c.1840C>T (p.Gln614Ter)
c.1960C>T (p.Gln654Ter)
c.1993C>T (p.Gln665Ter)
c.1981C>T (p.Gln661Ter)
c.1972C>T (p.Gln658Ter)
c.1873C>T (p.Gln625Ter)
c.1861C>T (p.Gln621Ter)
c.1258C>T (p.Gln420Ter)
 dbSNP gnomAD v3 gnomAD v4
19g.18060037G>CCA404775397IL12RB1c.1840C>G (p.Gln614Glu)
c.1960C>G (p.Gln654Glu)
c.1993C>G (p.Gln665Glu)
c.1981C>G (p.Gln661Glu)
c.1972C>G (p.Gln658Glu)
c.1873C>G (p.Gln625Glu)
c.1861C>G (p.Gln621Glu)
c.1258C>G (p.Gln420Glu)
19g.18060037G=CA2326165201IL12RB1c.1840C= (p.Gln614=)
c.1960C= (p.Gln654=)
c.1993C= (p.Gln665=)
c.1981C= (p.Gln661=)
c.1972C= (p.Gln658=)
c.1873C= (p.Gln625=)
c.1861C= (p.Gln621=)
c.1258C= (p.Gln420=)
19g.18060037G>TCA404775395IL12RB1c.1840C>A (p.Gln614Lys)
c.1960C>A (p.Gln654Lys)
c.1993C>A (p.Gln665Lys)
c.1981C>A (p.Gln661Lys)
c.1972C>A (p.Gln658Lys)
c.1873C>A (p.Gln625Lys)
c.1861C>A (p.Gln621Lys)
c.1258C>A (p.Gln420Lys)
 dbSNP gnomAD v4
19g.18060038C>ACA506026309IL12RB1c.1839G>T (p.Leu613=)
c.1959G>T (p.Leu653=)
c.1992G>T (p.Leu664=)
c.1980G>T (p.Leu660=)
c.1971G>T (p.Leu657=)
c.1872G>T (p.Leu624=)
c.1860G>T (p.Leu620=)
c.1257G>T (p.Leu419=)
19g.18060038C>GCA506026311IL12RB1c.1839G>C (p.Leu613=)
c.1959G>C (p.Leu653=)
c.1992G>C (p.Leu664=)
c.1980G>C (p.Leu660=)
c.1971G>C (p.Leu657=)
c.1872G>C (p.Leu624=)
c.1860G>C (p.Leu620=)
c.1257G>C (p.Leu419=)
 gnomAD v4
19g.18060038C>TCA506026313IL12RB1c.1839G>A (p.Leu613=)
c.1959G>A (p.Leu653=)
c.1992G>A (p.Leu664=)
c.1980G>A (p.Leu660=)
c.1971G>A (p.Leu657=)
c.1872G>A (p.Leu624=)
c.1860G>A (p.Leu620=)
c.1257G>A (p.Leu419=)
19g.18060039A>CCA404775400IL12RB1c.1838T>G (p.Leu613Arg)
c.1958T>G (p.Leu653Arg)
c.1991T>G (p.Leu664Arg)
c.1979T>G (p.Leu660Arg)
c.1970T>G (p.Leu657Arg)
c.1871T>G (p.Leu624Arg)
c.1859T>G (p.Leu620Arg)
c.1256T>G (p.Leu419Arg)
 COSMIC
19g.18060039A>GCA404775402IL12RB1c.1838T>C (p.Leu613Pro)
c.1958T>C (p.Leu653Pro)
c.1991T>C (p.Leu664Pro)
c.1979T>C (p.Leu660Pro)
c.1970T>C (p.Leu657Pro)
c.1871T>C (p.Leu624Pro)
c.1859T>C (p.Leu620Pro)
c.1256T>C (p.Leu419Pro)
19g.18060039A>TCA404775403IL12RB1c.1838T>A (p.Leu613Gln)
c.1958T>A (p.Leu653Gln)
c.1991T>A (p.Leu664Gln)
c.1979T>A (p.Leu660Gln)
c.1970T>A (p.Leu657Gln)
c.1871T>A (p.Leu624Gln)
c.1859T>A (p.Leu620Gln)
c.1256T>A (p.Leu419Gln)
 COSMIC COSMIC
19g.18060040G>ACA506026326IL12RB1c.1837C>T (p.Leu613=)
c.1957C>T (p.Leu653=)
c.1990C>T (p.Leu664=)
c.1978C>T (p.Leu660=)
c.1969C>T (p.Leu657=)
c.1870C>T (p.Leu624=)
c.1858C>T (p.Leu620=)
c.1255C>T (p.Leu419=)
19g.18060040G>CCA404775406IL12RB1c.1837C>G (p.Leu613Val)
c.1957C>G (p.Leu653Val)
c.1990C>G (p.Leu664Val)
c.1978C>G (p.Leu660Val)
c.1969C>G (p.Leu657Val)
c.1870C>G (p.Leu624Val)
c.1858C>G (p.Leu620Val)
c.1255C>G (p.Leu419Val)
19g.18060040G>TCA404775410IL12RB1c.1837C>A (p.Leu613Met)
c.1957C>A (p.Leu653Met)
c.1990C>A (p.Leu664Met)
c.1978C>A (p.Leu660Met)
c.1969C>A (p.Leu657Met)
c.1870C>A (p.Leu624Met)
c.1858C>A (p.Leu620Met)
c.1255C>A (p.Leu419Met)
 COSMIC COSMIC
19g.18060041G>ACA506026328IL12RB1c.1836C>T (p.Ser612=)
c.1956C>T (p.Ser652=)
c.1989C>T (p.Ser663=)
c.1977C>T (p.Ser659=)
c.1968C>T (p.Ser656=)
c.1869C>T (p.Ser623=)
c.1857C>T (p.Ser619=)
c.1254C>T (p.Ser418=)
 dbSNP gnomAD v2 COSMIC COSMIC
19g.18060041G>CCA506026329IL12RB1c.1836C>G (p.Ser612=)
c.1956C>G (p.Ser652=)
c.1989C>G (p.Ser663=)
c.1977C>G (p.Ser659=)
c.1968C>G (p.Ser656=)
c.1869C>G (p.Ser623=)
c.1857C>G (p.Ser619=)
c.1254C>G (p.Ser418=)
19g.18060041G=CA2326165202IL12RB1c.1836C= (p.Ser612=)
c.1956C= (p.Ser652=)
c.1989C= (p.Ser663=)
c.1977C= (p.Ser659=)
c.1968C= (p.Ser656=)
c.1869C= (p.Ser623=)
c.1857C= (p.Ser619=)
c.1254C= (p.Ser418=)
19g.18060041G>TCA506026330IL12RB1c.1836C>A (p.Ser612=)
c.1956C>A (p.Ser652=)
c.1989C>A (p.Ser663=)
c.1977C>A (p.Ser659=)
c.1968C>A (p.Ser656=)
c.1869C>A (p.Ser623=)
c.1857C>A (p.Ser619=)
c.1254C>A (p.Ser418=)
 gnomAD v4
19g.18060042G>ACA9304670IL12RB1c.1835C>T (p.Ser612Phe)
c.1955C>T (p.Ser652Phe)
c.1988C>T (p.Ser663Phe)
c.1976C>T (p.Ser659Phe)
c.1967C>T (p.Ser656Phe)
c.1868C>T (p.Ser623Phe)
c.1856C>T (p.Ser619Phe)
c.1253C>T (p.Ser418Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18060042G>CCA404775414IL12RB1c.1835C>G (p.Ser612Cys)
c.1955C>G (p.Ser652Cys)
c.1988C>G (p.Ser663Cys)
c.1976C>G (p.Ser659Cys)
c.1967C>G (p.Ser656Cys)
c.1868C>G (p.Ser623Cys)
c.1856C>G (p.Ser619Cys)
c.1253C>G (p.Ser418Cys)
19g.18060042G=CA2326165203IL12RB1c.1835C= (p.Ser612=)
c.1955C= (p.Ser652=)
c.1988C= (p.Ser663=)
c.1976C= (p.Ser659=)
c.1967C= (p.Ser656=)
c.1868C= (p.Ser623=)
c.1856C= (p.Ser619=)
c.1253C= (p.Ser418=)
19g.18060042G>TCA404775412IL12RB1c.1835C>A (p.Ser612Tyr)
c.1955C>A (p.Ser652Tyr)
c.1988C>A (p.Ser663Tyr)
c.1976C>A (p.Ser659Tyr)
c.1967C>A (p.Ser656Tyr)
c.1868C>A (p.Ser623Tyr)
c.1856C>A (p.Ser619Tyr)
c.1253C>A (p.Ser418Tyr)
19g.18060043A>CCA404775416IL12RB1c.1834T>G (p.Ser612Ala)
c.1954T>G (p.Ser652Ala)
c.1987T>G (p.Ser663Ala)
c.1975T>G (p.Ser659Ala)
c.1966T>G (p.Ser656Ala)
c.1867T>G (p.Ser623Ala)
c.1855T>G (p.Ser619Ala)
c.1252T>G (p.Ser418Ala)
19g.18060043A>GCA404775418IL12RB1c.1834T>C (p.Ser612Pro)
c.1954T>C (p.Ser652Pro)
c.1987T>C (p.Ser663Pro)
c.1975T>C (p.Ser659Pro)
c.1966T>C (p.Ser656Pro)
c.1867T>C (p.Ser623Pro)
c.1855T>C (p.Ser619Pro)
c.1252T>C (p.Ser418Pro)
19g.18060043A>TCA404775420IL12RB1c.1834T>A (p.Ser612Thr)
c.1954T>A (p.Ser652Thr)
c.1987T>A (p.Ser663Thr)
c.1975T>A (p.Ser659Thr)
c.1966T>A (p.Ser656Thr)
c.1867T>A (p.Ser623Thr)
c.1855T>A (p.Ser619Thr)
c.1252T>A (p.Ser418Thr)
19g.18060044T>ACA506026332IL12RB1c.1833A>T (p.Ala611=)
c.1953A>T (p.Ala651=)
c.1986A>T (p.Ala662=)
c.1974A>T (p.Ala658=)
c.1965A>T (p.Ala655=)
c.1866A>T (p.Ala622=)
c.1854A>T (p.Ala618=)
c.1251A>T (p.Ala417=)
 gnomAD v4
19g.18060044T>CCA506026333IL12RB1c.1833A>G (p.Ala611=)
c.1953A>G (p.Ala651=)
c.1986A>G (p.Ala662=)
c.1974A>G (p.Ala658=)
c.1965A>G (p.Ala655=)
c.1866A>G (p.Ala622=)
c.1854A>G (p.Ala618=)
c.1251A>G (p.Ala417=)
 dbSNP gnomAD v2 gnomAD v4
19g.18060044T>GCA506026336IL12RB1c.1833A>C (p.Ala611=)
c.1953A>C (p.Ala651=)
c.1986A>C (p.Ala662=)
c.1974A>C (p.Ala658=)
c.1965A>C (p.Ala655=)
c.1866A>C (p.Ala622=)
c.1854A>C (p.Ala618=)
c.1251A>C (p.Ala417=)
19g.18060044T=CA2326165204IL12RB1c.1833A= (p.Ala611=)
c.1953A= (p.Ala651=)
c.1986A= (p.Ala662=)
c.1974A= (p.Ala658=)
c.1965A= (p.Ala655=)
c.1866A= (p.Ala622=)
c.1854A= (p.Ala618=)
c.1251A= (p.Ala417=)
19g.18060045G>ACA306158838IL12RB1c.1832C>T (p.Ala611Val)
c.1952C>T (p.Ala651Val)
c.1985C>T (p.Ala662Val)
c.1973C>T (p.Ala658Val)
c.1964C>T (p.Ala655Val)
c.1865C>T (p.Ala622Val)
c.1853C>T (p.Ala618Val)
c.1250C>T (p.Ala417Val)
 dbSNP
19g.18060045G>CCA404775424IL12RB1c.1832C>G (p.Ala611Gly)
c.1952C>G (p.Ala651Gly)
c.1985C>G (p.Ala662Gly)
c.1973C>G (p.Ala658Gly)
c.1964C>G (p.Ala655Gly)
c.1865C>G (p.Ala622Gly)
c.1853C>G (p.Ala618Gly)
c.1250C>G (p.Ala417Gly)
19g.18060045G=CA2326165205IL12RB1c.1832C= (p.Ala611=)
c.1952C= (p.Ala651=)
c.1985C= (p.Ala662=)
c.1973C= (p.Ala658=)
c.1964C= (p.Ala655=)
c.1865C= (p.Ala622=)
c.1853C= (p.Ala618=)
c.1250C= (p.Ala417=)
19g.18060045G>TCA306158839IL12RB1c.1832C>A (p.Ala611Glu)
c.1952C>A (p.Ala651Glu)
c.1985C>A (p.Ala662Glu)
c.1973C>A (p.Ala658Glu)
c.1964C>A (p.Ala655Glu)
c.1865C>A (p.Ala622Glu)
c.1853C>A (p.Ala618Glu)
c.1250C>A (p.Ala417Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.18060046C>ACA404775432IL12RB1c.1831G>T (p.Ala611Ser)
c.1951G>T (p.Ala651Ser)
c.1984G>T (p.Ala662Ser)
c.1972G>T (p.Ala658Ser)
c.1963G>T (p.Ala655Ser)
c.1864G>T (p.Ala622Ser)
c.1852G>T (p.Ala618Ser)
c.1249G>T (p.Ala417Ser)
19g.18060046C>GCA404775427IL12RB1c.1831G>C (p.Ala611Pro)
c.1951G>C (p.Ala651Pro)
c.1984G>C (p.Ala662Pro)
c.1972G>C (p.Ala658Pro)
c.1963G>C (p.Ala655Pro)
c.1864G>C (p.Ala622Pro)
c.1852G>C (p.Ala618Pro)
c.1249G>C (p.Ala417Pro)
19g.18060046C>TCA404775430IL12RB1c.1831G>A (p.Ala611Thr)
c.1951G>A (p.Ala651Thr)
c.1984G>A (p.Ala662Thr)
c.1972G>A (p.Ala658Thr)
c.1963G>A (p.Ala655Thr)
c.1864G>A (p.Ala622Thr)
c.1852G>A (p.Ala618Thr)
c.1249G>A (p.Ala417Thr)
 gnomAD v4
19g.18060047C>ACA404775434IL12RB1c.1830G>T (p.Glu610Asp)
c.1950G>T (p.Glu650Asp)
c.1983G>T (p.Glu661Asp)
c.1971G>T (p.Glu657Asp)
c.1962G>T (p.Glu654Asp)
c.1863G>T (p.Glu621Asp)
c.1851G>T (p.Glu617Asp)
c.1248G>T (p.Glu416Asp)
19g.18060047C>GCA404775436IL12RB1c.1830G>C (p.Glu610Asp)
c.1950G>C (p.Glu650Asp)
c.1983G>C (p.Glu661Asp)
c.1971G>C (p.Glu657Asp)
c.1962G>C (p.Glu654Asp)
c.1863G>C (p.Glu621Asp)
c.1851G>C (p.Glu617Asp)
c.1248G>C (p.Glu416Asp)
19g.18060047C>TCA506026352IL12RB1c.1830G>A (p.Glu610=)
c.1950G>A (p.Glu650=)
c.1983G>A (p.Glu661=)
c.1971G>A (p.Glu657=)
c.1962G>A (p.Glu654=)
c.1863G>A (p.Glu621=)
c.1851G>A (p.Glu617=)
c.1248G>A (p.Glu416=)
 gnomAD v4
19g.18060048T>ACA404775438IL12RB1c.1829A>T (p.Glu610Val)
c.1949A>T (p.Glu650Val)
c.1982A>T (p.Glu661Val)
c.1970A>T (p.Glu657Val)
c.1961A>T (p.Glu654Val)
c.1862A>T (p.Glu621Val)
c.1850A>T (p.Glu617Val)
c.1247A>T (p.Glu416Val)
19g.18060048T>CCA404775440IL12RB1c.1829A>G (p.Glu610Gly)
c.1949A>G (p.Glu650Gly)
c.1982A>G (p.Glu661Gly)
c.1970A>G (p.Glu657Gly)
c.1961A>G (p.Glu654Gly)
c.1862A>G (p.Glu621Gly)
c.1850A>G (p.Glu617Gly)
c.1247A>G (p.Glu416Gly)
19g.18060048T>GCA404775442IL12RB1c.1829A>C (p.Glu610Ala)
c.1949A>C (p.Glu650Ala)
c.1982A>C (p.Glu661Ala)
c.1970A>C (p.Glu657Ala)
c.1961A>C (p.Glu654Ala)
c.1862A>C (p.Glu621Ala)
c.1850A>C (p.Glu617Ala)
c.1247A>C (p.Glu416Ala)
19g.18060049C>ACA404775445IL12RB1c.1828G>T (p.Glu610Ter)
c.1948G>T (p.Glu650Ter)
c.1981G>T (p.Glu661Ter)
c.1969G>T (p.Glu657Ter)
c.1960G>T (p.Glu654Ter)
c.1861G>T (p.Glu621Ter)
c.1849G>T (p.Glu617Ter)
c.1246G>T (p.Glu416Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.18060049C=CA2326165206IL12RB1c.1828G= (p.Glu610=)
c.1948G= (p.Glu650=)
c.1981G= (p.Glu661=)
c.1969G= (p.Glu657=)
c.1960G= (p.Glu654=)
c.1861G= (p.Glu621=)
c.1849G= (p.Glu617=)
c.1246G= (p.Glu416=)
19g.18060049C>GCA404775447IL12RB1c.1828G>C (p.Glu610Gln)
c.1948G>C (p.Glu650Gln)
c.1981G>C (p.Glu661Gln)
c.1969G>C (p.Glu657Gln)
c.1960G>C (p.Glu654Gln)
c.1861G>C (p.Glu621Gln)
c.1849G>C (p.Glu617Gln)
c.1246G>C (p.Glu416Gln)
 gnomAD v4
19g.18060049C>TCA404775448IL12RB1c.1828G>A (p.Glu610Lys)
c.1948G>A (p.Glu650Lys)
c.1981G>A (p.Glu661Lys)
c.1969G>A (p.Glu657Lys)
c.1960G>A (p.Glu654Lys)
c.1861G>A (p.Glu621Lys)
c.1849G>A (p.Glu617Lys)
c.1246G>A (p.Glu416Lys)
19g.18060050T>ACA404775451IL12RB1c.1827A>T (p.Glu609Asp)
c.1947A>T (p.Glu649Asp)
c.1980A>T (p.Glu660Asp)
c.1968A>T (p.Glu656Asp)
c.1959A>T (p.Glu653Asp)
c.1860A>T (p.Glu620Asp)
c.1848A>T (p.Glu616Asp)
c.1245A>T (p.Glu415Asp)
19g.18060050T>CCA506026371IL12RB1c.1827A>G (p.Glu609=)
c.1947A>G (p.Glu649=)
c.1980A>G (p.Glu660=)
c.1968A>G (p.Glu656=)
c.1959A>G (p.Glu653=)
c.1860A>G (p.Glu620=)
c.1848A>G (p.Glu616=)
c.1245A>G (p.Glu415=)
 dbSNP gnomAD v3 gnomAD v4
19g.18060050T>GCA404775453IL12RB1c.1827A>C (p.Glu609Asp)
c.1947A>C (p.Glu649Asp)
c.1980A>C (p.Glu660Asp)
c.1968A>C (p.Glu656Asp)
c.1959A>C (p.Glu653Asp)
c.1860A>C (p.Glu620Asp)
c.1848A>C (p.Glu616Asp)
c.1245A>C (p.Glu415Asp)
19g.18060050T=CA2326165207IL12RB1c.1827A= (p.Glu609=)
c.1947A= (p.Glu649=)
c.1980A= (p.Glu660=)
c.1968A= (p.Glu656=)
c.1959A= (p.Glu653=)
c.1860A= (p.Glu620=)
c.1848A= (p.Glu616=)
c.1245A= (p.Glu415=)
19g.18060051T>ACA404775455IL12RB1c.1826A>T (p.Glu609Val)
c.1946A>T (p.Glu649Val)
c.1979A>T (p.Glu660Val)
c.1967A>T (p.Glu656Val)
c.1958A>T (p.Glu653Val)
c.1859A>T (p.Glu620Val)
c.1847A>T (p.Glu616Val)
c.1244A>T (p.Glu415Val)
19g.18060051T>CCA404775457IL12RB1c.1826A>G (p.Glu609Gly)
c.1946A>G (p.Glu649Gly)
c.1979A>G (p.Glu660Gly)
c.1967A>G (p.Glu656Gly)
c.1958A>G (p.Glu653Gly)
c.1859A>G (p.Glu620Gly)
c.1847A>G (p.Glu616Gly)
c.1244A>G (p.Glu415Gly)
19g.18060051T>GCA404775459IL12RB1c.1826A>C (p.Glu609Ala)
c.1946A>C (p.Glu649Ala)
c.1979A>C (p.Glu660Ala)
c.1967A>C (p.Glu656Ala)
c.1958A>C (p.Glu653Ala)
c.1859A>C (p.Glu620Ala)
c.1847A>C (p.Glu616Ala)
c.1244A>C (p.Glu415Ala)
19g.18060052C>ACA404775465IL12RB1c.1825G>T (p.Glu609Ter)
c.1945G>T (p.Glu649Ter)
c.1978G>T (p.Glu660Ter)
c.1966G>T (p.Glu656Ter)
c.1957G>T (p.Glu653Ter)
c.1858G>T (p.Glu620Ter)
c.1846G>T (p.Glu616Ter)
c.1243G>T (p.Glu415Ter)
19g.18060052C=CA2326165208IL12RB1c.1825G= (p.Glu609=)
c.1945G= (p.Glu649=)
c.1978G= (p.Glu660=)
c.1966G= (p.Glu656=)
c.1957G= (p.Glu653=)
c.1858G= (p.Glu620=)
c.1846G= (p.Glu616=)
c.1243G= (p.Glu415=)
19g.18060052C>GCA404775461IL12RB1c.1825G>C (p.Glu609Gln)
c.1945G>C (p.Glu649Gln)
c.1978G>C (p.Glu660Gln)
c.1966G>C (p.Glu656Gln)
c.1957G>C (p.Glu653Gln)
c.1858G>C (p.Glu620Gln)
c.1846G>C (p.Glu616Gln)
c.1243G>C (p.Glu415Gln)
19g.18060052C>TCA404775463IL12RB1c.1825G>A (p.Glu609Lys)
c.1945G>A (p.Glu649Lys)
c.1978G>A (p.Glu660Lys)
c.1966G>A (p.Glu656Lys)
c.1957G>A (p.Glu653Lys)
c.1858G>A (p.Glu620Lys)
c.1846G>A (p.Glu616Lys)
c.1243G>A (p.Glu415Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18060053C>ACA404775467IL12RB1c.1824G>T (p.Gln608His)
c.1944G>T (p.Gln648His)
c.1977G>T (p.Gln659His)
c.1965G>T (p.Gln655His)
c.1956G>T (p.Gln652His)
c.1857G>T (p.Gln619His)
c.1845G>T (p.Gln615His)
c.1242G>T (p.Gln414His)
19g.18060053C>GCA404775469IL12RB1c.1824G>C (p.Gln608His)
c.1944G>C (p.Gln648His)
c.1977G>C (p.Gln659His)
c.1965G>C (p.Gln655His)
c.1956G>C (p.Gln652His)
c.1857G>C (p.Gln619His)
c.1845G>C (p.Gln615His)
c.1242G>C (p.Gln414His)
19g.18060053C>TCA506026385IL12RB1c.1824G>A (p.Gln608=)
c.1944G>A (p.Gln648=)
c.1977G>A (p.Gln659=)
c.1965G>A (p.Gln655=)
c.1956G>A (p.Gln652=)
c.1857G>A (p.Gln619=)
c.1845G>A (p.Gln615=)
c.1242G>A (p.Gln414=)
19g.18060054delCA2576719415IL12RB1c.1823del (p.Gln608ArgfsTer12)
c.1943del (p.Gln648ArgfsTer12)
c.1976del (p.Gln659ArgfsTer12)
c.1964del (p.Gln655ArgfsTer12)
c.1955del (p.Gln652ArgfsTer12)
c.1856del (p.Gln619ArgfsTer12)
c.1844del (p.Gln615ArgfsTer12)
c.1241del (p.Gln414ArgfsTer12)
19g.18060054T>ACA404775471IL12RB1c.1823A>T (p.Gln608Leu)
c.1943A>T (p.Gln648Leu)
c.1976A>T (p.Gln659Leu)
c.1964A>T (p.Gln655Leu)
c.1955A>T (p.Gln652Leu)
c.1856A>T (p.Gln619Leu)
c.1844A>T (p.Gln615Leu)
c.1241A>T (p.Gln414Leu)
19g.18060054T>CCA404775472IL12RB1c.1823A>G (p.Gln608Arg)
c.1943A>G (p.Gln648Arg)
c.1976A>G (p.Gln659Arg)
c.1964A>G (p.Gln655Arg)
c.1955A>G (p.Gln652Arg)
c.1856A>G (p.Gln619Arg)
c.1844A>G (p.Gln615Arg)
c.1241A>G (p.Gln414Arg)
 gnomAD v4 COSMIC COSMIC
19g.18060054T>GCA404775473IL12RB1c.1823A>C (p.Gln608Pro)
c.1943A>C (p.Gln648Pro)
c.1976A>C (p.Gln659Pro)
c.1964A>C (p.Gln655Pro)
c.1955A>C (p.Gln652Pro)
c.1856A>C (p.Gln619Pro)
c.1844A>C (p.Gln615Pro)
c.1241A>C (p.Gln414Pro)
19g.18060055G>ACA404775476IL12RB1c.1822C>T (p.Gln608Ter)
c.1942C>T (p.Gln648Ter)
c.1975C>T (p.Gln659Ter)
c.1963C>T (p.Gln655Ter)
c.1954C>T (p.Gln652Ter)
c.1855C>T (p.Gln619Ter)
c.1843C>T (p.Gln615Ter)
c.1240C>T (p.Gln414Ter)
 gnomAD v4
19g.18060055G>CCA404775477IL12RB1c.1822C>G (p.Gln608Glu)
c.1942C>G (p.Gln648Glu)
c.1975C>G (p.Gln659Glu)
c.1963C>G (p.Gln655Glu)
c.1954C>G (p.Gln652Glu)
c.1855C>G (p.Gln619Glu)
c.1843C>G (p.Gln615Glu)
c.1240C>G (p.Gln414Glu)
19g.18060055G>TCA404775479IL12RB1c.1822C>A (p.Gln608Lys)
c.1942C>A (p.Gln648Lys)
c.1975C>A (p.Gln659Lys)
c.1963C>A (p.Gln655Lys)
c.1954C>A (p.Gln652Lys)
c.1855C>A (p.Gln619Lys)
c.1843C>A (p.Gln615Lys)
c.1240C>A (p.Gln414Lys)
19g.18060056delCA2576719416IL12RB1c.1822del (p.Gln608ArgfsTer12)
c.1942del (p.Gln648ArgfsTer12)
c.1975del (p.Gln659ArgfsTer12)
c.1963del (p.Gln655ArgfsTer12)
c.1954del (p.Gln652ArgfsTer12)
c.1855del (p.Gln619ArgfsTer12)
c.1843del (p.Gln615ArgfsTer12)
c.1240del (p.Gln414ArgfsTer12)
19g.18060056G>ACA506026408IL12RB1c.1821C>T (p.Phe607=)
c.1941C>T (p.Phe647=)
c.1974C>T (p.Phe658=)
c.1962C>T (p.Phe654=)
c.1953C>T (p.Phe651=)
c.1854C>T (p.Phe618=)
c.1842C>T (p.Phe614=)
c.1239C>T (p.Phe413=)
19g.18060056G>CCA404775481IL12RB1c.1821C>G (p.Phe607Leu)
c.1941C>G (p.Phe647Leu)
c.1974C>G (p.Phe658Leu)
c.1962C>G (p.Phe654Leu)
c.1953C>G (p.Phe651Leu)
c.1854C>G (p.Phe618Leu)
c.1842C>G (p.Phe614Leu)
c.1239C>G (p.Phe413Leu)
19g.18060056G>TCA404775482IL12RB1c.1821C>A (p.Phe607Leu)
c.1941C>A (p.Phe647Leu)
c.1974C>A (p.Phe658Leu)
c.1962C>A (p.Phe654Leu)
c.1953C>A (p.Phe651Leu)
c.1854C>A (p.Phe618Leu)
c.1842C>A (p.Phe614Leu)
c.1239C>A (p.Phe413Leu)
19g.18060057A>CCA404775485IL12RB1c.1820T>G (p.Phe607Cys)
c.1940T>G (p.Phe647Cys)
c.1973T>G (p.Phe658Cys)
c.1961T>G (p.Phe654Cys)
c.1952T>G (p.Phe651Cys)
c.1853T>G (p.Phe618Cys)
c.1841T>G (p.Phe614Cys)
c.1238T>G (p.Phe413Cys)
19g.18060057A>GCA404775487IL12RB1c.1820T>C (p.Phe607Ser)
c.1940T>C (p.Phe647Ser)
c.1973T>C (p.Phe658Ser)
c.1961T>C (p.Phe654Ser)
c.1952T>C (p.Phe651Ser)
c.1853T>C (p.Phe618Ser)
c.1841T>C (p.Phe614Ser)
c.1238T>C (p.Phe413Ser)
19g.18060057A>TCA404775488IL12RB1c.1820T>A (p.Phe607Tyr)
c.1940T>A (p.Phe647Tyr)
c.1973T>A (p.Phe658Tyr)
c.1961T>A (p.Phe654Tyr)
c.1952T>A (p.Phe651Tyr)
c.1853T>A (p.Phe618Tyr)
c.1841T>A (p.Phe614Tyr)
c.1238T>A (p.Phe413Tyr)
19g.18060058A=CA2326165209IL12RB1c.1819T= (p.Phe607=)
c.1939T= (p.Phe647=)
c.1972T= (p.Phe658=)
c.1960T= (p.Phe654=)
c.1951T= (p.Phe651=)
c.1852T= (p.Phe618=)
c.1840T= (p.Phe614=)
c.1237T= (p.Phe413=)
19g.18060058A>CCA404775493IL12RB1c.1819T>G (p.Phe607Val)
c.1939T>G (p.Phe647Val)
c.1972T>G (p.Phe658Val)
c.1960T>G (p.Phe654Val)
c.1951T>G (p.Phe651Val)
c.1852T>G (p.Phe618Val)
c.1840T>G (p.Phe614Val)
c.1237T>G (p.Phe413Val)
19g.18060058A>GCA404775491IL12RB1c.1819T>C (p.Phe607Leu)
c.1939T>C (p.Phe647Leu)
c.1972T>C (p.Phe658Leu)
c.1960T>C (p.Phe654Leu)
c.1951T>C (p.Phe651Leu)
c.1852T>C (p.Phe618Leu)
c.1840T>C (p.Phe614Leu)
c.1237T>C (p.Phe413Leu)
19g.18060058A>TCA306158840IL12RB1c.1819T>A (p.Phe607Ile)
c.1939T>A (p.Phe647Ile)
c.1972T>A (p.Phe658Ile)
c.1960T>A (p.Phe654Ile)
c.1951T>A (p.Phe651Ile)
c.1852T>A (p.Phe618Ile)
c.1840T>A (p.Phe614Ile)
c.1237T>A (p.Phe413Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.18060059G>ACA10642456IL12RB1c.1818C>T (p.Asp606=)
c.1938C>T (p.Asp646=)
c.1971C>T (p.Asp657=)
c.1959C>T (p.Asp653=)
c.1950C>T (p.Asp650=)
c.1851C>T (p.Asp617=)
c.1839C>T (p.Asp613=)
c.1236C>T (p.Asp412=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18060059G>CCA404775496IL12RB1c.1818C>G (p.Asp606Glu)
c.1938C>G (p.Asp646Glu)
c.1971C>G (p.Asp657Glu)
c.1959C>G (p.Asp653Glu)
c.1950C>G (p.Asp650Glu)
c.1851C>G (p.Asp617Glu)
c.1839C>G (p.Asp613Glu)
c.1236C>G (p.Asp412Glu)
19g.18060059G=CA2326165210IL12RB1c.1818C= (p.Asp606=)
c.1938C= (p.Asp646=)
c.1971C= (p.Asp657=)
c.1959C= (p.Asp653=)
c.1950C= (p.Asp650=)
c.1851C= (p.Asp617=)
c.1839C= (p.Asp613=)
c.1236C= (p.Asp412=)
19g.18060059G>TCA404775498IL12RB1c.1818C>A (p.Asp606Glu)
c.1938C>A (p.Asp646Glu)
c.1971C>A (p.Asp657Glu)
c.1959C>A (p.Asp653Glu)
c.1950C>A (p.Asp650Glu)
c.1851C>A (p.Asp617Glu)
c.1839C>A (p.Asp613Glu)
c.1236C>A (p.Asp412Glu)
 gnomAD v4
19g.18060060T>ACA404775501IL12RB1c.1817A>T (p.Asp606Val)
c.1937A>T (p.Asp646Val)
c.1970A>T (p.Asp657Val)
c.1958A>T (p.Asp653Val)
c.1949A>T (p.Asp650Val)
c.1850A>T (p.Asp617Val)
c.1838A>T (p.Asp613Val)
c.1235A>T (p.Asp412Val)
19g.18060060T>CCA404775503IL12RB1c.1817A>G (p.Asp606Gly)
c.1937A>G (p.Asp646Gly)
c.1970A>G (p.Asp657Gly)
c.1958A>G (p.Asp653Gly)
c.1949A>G (p.Asp650Gly)
c.1850A>G (p.Asp617Gly)
c.1838A>G (p.Asp613Gly)
c.1235A>G (p.Asp412Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18060060T>GCA404775504IL12RB1c.1817A>C (p.Asp606Ala)
c.1937A>C (p.Asp646Ala)
c.1970A>C (p.Asp657Ala)
c.1958A>C (p.Asp653Ala)
c.1949A>C (p.Asp650Ala)
c.1850A>C (p.Asp617Ala)
c.1838A>C (p.Asp613Ala)
c.1235A>C (p.Asp412Ala)
19g.18060060T=CA2326165211IL12RB1c.1817A= (p.Asp606=)
c.1937A= (p.Asp646=)
c.1970A= (p.Asp657=)
c.1958A= (p.Asp653=)
c.1949A= (p.Asp650=)
c.1850A= (p.Asp617=)
c.1838A= (p.Asp613=)
c.1235A= (p.Asp412=)
19g.18060061C>ACA404775506IL12RB1c.1816G>T (p.Asp606Tyr)
c.1936G>T (p.Asp646Tyr)
c.1969G>T (p.Asp657Tyr)
c.1957G>T (p.Asp653Tyr)
c.1948G>T (p.Asp650Tyr)
c.1849G>T (p.Asp617Tyr)
c.1837G>T (p.Asp613Tyr)
c.1234G>T (p.Asp412Tyr)
19g.18060061C>GCA404775508IL12RB1c.1816G>C (p.Asp606His)
c.1936G>C (p.Asp646His)
c.1969G>C (p.Asp657His)
c.1957G>C (p.Asp653His)
c.1948G>C (p.Asp650His)
c.1849G>C (p.Asp617His)
c.1837G>C (p.Asp613His)
c.1234G>C (p.Asp412His)
19g.18060061C>TCA404775510IL12RB1c.1816G>A (p.Asp606Asn)
c.1936G>A (p.Asp646Asn)
c.1969G>A (p.Asp657Asn)
c.1957G>A (p.Asp653Asn)
c.1948G>A (p.Asp650Asn)
c.1849G>A (p.Asp617Asn)
c.1837G>A (p.Asp613Asn)
c.1234G>A (p.Asp412Asn)
19g.18060062C>ACA506026435IL12RB1c.1815G>T (p.Val605=)
c.1935G>T (p.Val645=)
c.1968G>T (p.Val656=)
c.1956G>T (p.Val652=)
c.1947G>T (p.Val649=)
c.1848G>T (p.Val616=)
c.1836G>T (p.Val612=)
c.1233G>T (p.Val411=)
19g.18060062C>GCA506026436IL12RB1c.1815G>C (p.Val605=)
c.1935G>C (p.Val645=)
c.1968G>C (p.Val656=)
c.1956G>C (p.Val652=)
c.1947G>C (p.Val649=)
c.1848G>C (p.Val616=)
c.1836G>C (p.Val612=)
c.1233G>C (p.Val411=)
19g.18060062C>TCA506026439IL12RB1c.1815G>A (p.Val605=)
c.1935G>A (p.Val645=)
c.1968G>A (p.Val656=)
c.1956G>A (p.Val652=)
c.1947G>A (p.Val649=)
c.1848G>A (p.Val616=)
c.1836G>A (p.Val612=)
c.1233G>A (p.Val411=)
 COSMIC COSMIC
19g.18060063A>CCA404775513IL12RB1c.1814T>G (p.Val605Gly)
c.1934T>G (p.Val645Gly)
c.1967T>G (p.Val656Gly)
c.1955T>G (p.Val652Gly)
c.1946T>G (p.Val649Gly)
c.1847T>G (p.Val616Gly)
c.1835T>G (p.Val612Gly)
c.1232T>G (p.Val411Gly)
19g.18060063A>GCA404775515IL12RB1c.1814T>C (p.Val605Ala)
c.1934T>C (p.Val645Ala)
c.1967T>C (p.Val656Ala)
c.1955T>C (p.Val652Ala)
c.1946T>C (p.Val649Ala)
c.1847T>C (p.Val616Ala)
c.1835T>C (p.Val612Ala)
c.1232T>C (p.Val411Ala)
19g.18060063A>TCA404775516IL12RB1c.1814T>A (p.Val605Glu)
c.1934T>A (p.Val645Glu)
c.1967T>A (p.Val656Glu)
c.1955T>A (p.Val652Glu)
c.1946T>A (p.Val649Glu)
c.1847T>A (p.Val616Glu)
c.1835T>A (p.Val612Glu)
c.1232T>A (p.Val411Glu)
19g.18060064C>ACA9304671IL12RB1c.1813G>T (p.Val605Leu)
c.1933G>T (p.Val645Leu)
c.1966G>T (p.Val656Leu)
c.1954G>T (p.Val652Leu)
c.1945G>T (p.Val649Leu)
c.1846G>T (p.Val616Leu)
c.1834G>T (p.Val612Leu)
c.1231G>T (p.Val411Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18060064C=CA2326165212IL12RB1c.1813G= (p.Val605=)
c.1933G= (p.Val645=)
c.1966G= (p.Val656=)
c.1954G= (p.Val652=)
c.1945G= (p.Val649=)
c.1846G= (p.Val616=)
c.1834G= (p.Val612=)
c.1231G= (p.Val411=)
19g.18060064C>GCA404775521IL12RB1c.1813G>C (p.Val605Leu)
c.1933G>C (p.Val645Leu)
c.1966G>C (p.Val656Leu)
c.1954G>C (p.Val652Leu)
c.1945G>C (p.Val649Leu)
c.1846G>C (p.Val616Leu)
c.1834G>C (p.Val612Leu)
c.1231G>C (p.Val411Leu)
19g.18060064C>TCA404775520IL12RB1c.1813G>A (p.Val605Met)
c.1933G>A (p.Val645Met)
c.1966G>A (p.Val656Met)
c.1954G>A (p.Val652Met)
c.1945G>A (p.Val649Met)
c.1846G>A (p.Val616Met)
c.1834G>A (p.Val612Met)
c.1231G>A (p.Val411Met)
 gnomAD v4
19g.18060065T>ACA506026447IL12RB1c.1812A>T (p.Pro604=)
c.1932A>T (p.Pro644=)
c.1965A>T (p.Pro655=)
c.1953A>T (p.Pro651=)
c.1944A>T (p.Pro648=)
c.1845A>T (p.Pro615=)
c.1833A>T (p.Pro611=)
c.1230A>T (p.Pro410=)
 gnomAD v4
19g.18060065T>CCA506026449IL12RB1c.1812A>G (p.Pro604=)
c.1932A>G (p.Pro644=)
c.1965A>G (p.Pro655=)
c.1953A>G (p.Pro651=)
c.1944A>G (p.Pro648=)
c.1845A>G (p.Pro615=)
c.1833A>G (p.Pro611=)
c.1230A>G (p.Pro410=)
 gnomAD v4
19g.18060065T>GCA506026452IL12RB1c.1812A>C (p.Pro604=)
c.1932A>C (p.Pro644=)
c.1965A>C (p.Pro655=)
c.1953A>C (p.Pro651=)
c.1944A>C (p.Pro648=)
c.1845A>C (p.Pro615=)
c.1833A>C (p.Pro611=)
c.1230A>C (p.Pro410=)
19g.18060066G>ACA404775523IL12RB1c.1811C>T (p.Pro604Leu)
c.1931C>T (p.Pro644Leu)
c.1964C>T (p.Pro655Leu)
c.1952C>T (p.Pro651Leu)
c.1943C>T (p.Pro648Leu)
c.1844C>T (p.Pro615Leu)
c.1832C>T (p.Pro611Leu)
c.1229C>T (p.Pro410Leu)
19g.18060066G>CCA404775527IL12RB1c.1811C>G (p.Pro604Arg)
c.1931C>G (p.Pro644Arg)
c.1964C>G (p.Pro655Arg)
c.1952C>G (p.Pro651Arg)
c.1943C>G (p.Pro648Arg)
c.1844C>G (p.Pro615Arg)
c.1832C>G (p.Pro611Arg)
c.1229C>G (p.Pro410Arg)
 dbSNP
19g.18060066G=CA2326165213IL12RB1c.1811C= (p.Pro604=)
c.1931C= (p.Pro644=)
c.1964C= (p.Pro655=)
c.1952C= (p.Pro651=)
c.1943C= (p.Pro648=)
c.1844C= (p.Pro615=)
c.1832C= (p.Pro611=)
c.1229C= (p.Pro410=)
19g.18060066G>TCA404775525IL12RB1c.1811C>A (p.Pro604Gln)
c.1931C>A (p.Pro644Gln)
c.1964C>A (p.Pro655Gln)
c.1952C>A (p.Pro651Gln)
c.1943C>A (p.Pro648Gln)
c.1844C>A (p.Pro615Gln)
c.1832C>A (p.Pro611Gln)
c.1229C>A (p.Pro410Gln)
 gnomAD v4
19g.18060068delCA2576719417IL12RB1c.1811del (p.Pro604GlnfsTer16)
c.1931del (p.Pro644GlnfsTer16)
c.1964del (p.Pro655GlnfsTer16)
c.1952del (p.Pro651GlnfsTer16)
c.1943del (p.Pro648GlnfsTer16)
c.1844del (p.Pro615GlnfsTer16)
c.1832del (p.Pro611GlnfsTer16)
c.1229del (p.Pro410GlnfsTer16)
 gnomAD v4
19g.18060067G>ACA404775529IL12RB1c.1810C>T (p.Pro604Ser)
c.1930C>T (p.Pro644Ser)
c.1963C>T (p.Pro655Ser)
c.1951C>T (p.Pro651Ser)
c.1942C>T (p.Pro648Ser)
c.1843C>T (p.Pro615Ser)
c.1831C>T (p.Pro611Ser)
c.1228C>T (p.Pro410Ser)
 dbSNP gnomAD v2
19g.18060067G>CCA404775531IL12RB1c.1810C>G (p.Pro604Ala)
c.1930C>G (p.Pro644Ala)
c.1963C>G (p.Pro655Ala)
c.1951C>G (p.Pro651Ala)
c.1942C>G (p.Pro648Ala)
c.1843C>G (p.Pro615Ala)
c.1831C>G (p.Pro611Ala)
c.1228C>G (p.Pro410Ala)
19g.18060067G=CA2326165214IL12RB1c.1810C= (p.Pro604=)
c.1930C= (p.Pro644=)
c.1963C= (p.Pro655=)
c.1951C= (p.Pro651=)
c.1942C= (p.Pro648=)
c.1843C= (p.Pro615=)
c.1831C= (p.Pro611=)
c.1228C= (p.Pro410=)
19g.18060067G>TCA404775533IL12RB1c.1810C>A (p.Pro604Thr)
c.1930C>A (p.Pro644Thr)
c.1963C>A (p.Pro655Thr)
c.1951C>A (p.Pro651Thr)
c.1942C>A (p.Pro648Thr)
c.1843C>A (p.Pro615Thr)
c.1831C>A (p.Pro611Thr)
c.1228C>A (p.Pro410Thr)
 dbSNP gnomAD v4
19g.18060068G>ACA506026459IL12RB1c.1809C>T (p.Asn603=)
c.1929C>T (p.Asn643=)
c.1962C>T (p.Asn654=)
c.1950C>T (p.Asn650=)
c.1941C>T (p.Asn647=)
c.1842C>T (p.Asn614=)
c.1830C>T (p.Asn610=)
c.1227C>T (p.Asn409=)
19g.18060068G>CCA404775534IL12RB1c.1809C>G (p.Asn603Lys)
c.1929C>G (p.Asn643Lys)
c.1962C>G (p.Asn654Lys)
c.1950C>G (p.Asn650Lys)
c.1941C>G (p.Asn647Lys)
c.1842C>G (p.Asn614Lys)
c.1830C>G (p.Asn610Lys)
c.1227C>G (p.Asn409Lys)
19g.18060068G>TCA404775535IL12RB1c.1809C>A (p.Asn603Lys)
c.1929C>A (p.Asn643Lys)
c.1962C>A (p.Asn654Lys)
c.1950C>A (p.Asn650Lys)
c.1941C>A (p.Asn647Lys)
c.1842C>A (p.Asn614Lys)
c.1830C>A (p.Asn610Lys)
c.1227C>A (p.Asn409Lys)
 gnomAD v4
19g.18060069T>ACA404775537IL12RB1c.1808A>T (p.Asn603Ile)
c.1928A>T (p.Asn643Ile)
c.1961A>T (p.Asn654Ile)
c.1949A>T (p.Asn650Ile)
c.1940A>T (p.Asn647Ile)
c.1841A>T (p.Asn614Ile)
c.1829A>T (p.Asn610Ile)
c.1226A>T (p.Asn409Ile)
19g.18060069T>CCA404775539IL12RB1c.1808A>G (p.Asn603Ser)
c.1928A>G (p.Asn643Ser)
c.1961A>G (p.Asn654Ser)
c.1949A>G (p.Asn650Ser)
c.1940A>G (p.Asn647Ser)
c.1841A>G (p.Asn614Ser)
c.1829A>G (p.Asn610Ser)
c.1226A>G (p.Asn409Ser)
19g.18060069T>GCA404775541IL12RB1c.1808A>C (p.Asn603Thr)
c.1928A>C (p.Asn643Thr)
c.1961A>C (p.Asn654Thr)
c.1949A>C (p.Asn650Thr)
c.1940A>C (p.Asn647Thr)
c.1841A>C (p.Asn614Thr)
c.1829A>C (p.Asn610Thr)
c.1226A>C (p.Asn409Thr)
 gnomAD v4
19g.18060070T>ACA404775544IL12RB1c.1807A>T (p.Asn603Tyr)
c.1927A>T (p.Asn643Tyr)
c.1960A>T (p.Asn654Tyr)
c.1948A>T (p.Asn650Tyr)
c.1939A>T (p.Asn647Tyr)
c.1840A>T (p.Asn614Tyr)
c.1828A>T (p.Asn610Tyr)
c.1225A>T (p.Asn409Tyr)
19g.18060070T>CCA404775546IL12RB1c.1807A>G (p.Asn603Asp)
c.1927A>G (p.Asn643Asp)
c.1960A>G (p.Asn654Asp)
c.1948A>G (p.Asn650Asp)
c.1939A>G (p.Asn647Asp)
c.1840A>G (p.Asn614Asp)
c.1828A>G (p.Asn610Asp)
c.1225A>G (p.Asn409Asp)
 gnomAD v4
19g.18060070T>GCA404775549IL12RB1c.1807A>C (p.Asn603His)
c.1927A>C (p.Asn643His)
c.1960A>C (p.Asn654His)
c.1948A>C (p.Asn650His)
c.1939A>C (p.Asn647His)
c.1840A>C (p.Asn614His)
c.1828A>C (p.Asn610His)
c.1225A>C (p.Asn409His)
 gnomAD v4
19g.18060071G>ACA506026472IL12RB1c.1806C>T (p.Ile602=)
c.1926C>T (p.Ile642=)
c.1959C>T (p.Ile653=)
c.1947C>T (p.Ile649=)
c.1938C>T (p.Ile646=)
c.1839C>T (p.Ile613=)
c.1827C>T (p.Ile609=)
c.1224C>T (p.Ile408=)
 COSMIC COSMIC
19g.18060071G>CCA404775551IL12RB1c.1806C>G (p.Ile602Met)
c.1926C>G (p.Ile642Met)
c.1959C>G (p.Ile653Met)
c.1947C>G (p.Ile649Met)
c.1938C>G (p.Ile646Met)
c.1839C>G (p.Ile613Met)
c.1827C>G (p.Ile609Met)
c.1224C>G (p.Ile408Met)
19g.18060071G>TCA506026474IL12RB1c.1806C>A (p.Ile602=)
c.1926C>A (p.Ile642=)
c.1959C>A (p.Ile653=)
c.1947C>A (p.Ile649=)
c.1938C>A (p.Ile646=)
c.1839C>A (p.Ile613=)
c.1827C>A (p.Ile609=)
c.1224C>A (p.Ile408=)
 gnomAD v4
19g.18060072A=CA2326165215IL12RB1c.1805T= (p.Ile602=)
c.1925T= (p.Ile642=)
c.1958T= (p.Ile653=)
c.1946T= (p.Ile649=)
c.1937T= (p.Ile646=)
c.1838T= (p.Ile613=)
c.1826T= (p.Ile609=)
c.1223T= (p.Ile408=)
19g.18060072A>CCA404775553IL12RB1c.1805T>G (p.Ile602Ser)
c.1925T>G (p.Ile642Ser)
c.1958T>G (p.Ile653Ser)
c.1946T>G (p.Ile649Ser)
c.1937T>G (p.Ile646Ser)
c.1838T>G (p.Ile613Ser)
c.1826T>G (p.Ile609Ser)
c.1223T>G (p.Ile408Ser)
19g.18060072A>GCA404775557IL12RB1c.1805T>C (p.Ile602Thr)
c.1925T>C (p.Ile642Thr)
c.1958T>C (p.Ile653Thr)
c.1946T>C (p.Ile649Thr)
c.1937T>C (p.Ile646Thr)
c.1838T>C (p.Ile613Thr)
c.1826T>C (p.Ile609Thr)
c.1223T>C (p.Ile408Thr)
 dbSNP gnomAD v2
19g.18060072A>TCA404775555IL12RB1c.1805T>A (p.Ile602Asn)
c.1925T>A (p.Ile642Asn)
c.1958T>A (p.Ile653Asn)
c.1946T>A (p.Ile649Asn)
c.1937T>A (p.Ile646Asn)
c.1838T>A (p.Ile613Asn)
c.1826T>A (p.Ile609Asn)
c.1223T>A (p.Ile408Asn)
19g.18060073T>ACA404775560IL12RB1c.1804A>T (p.Ile602Phe)
c.1924A>T (p.Ile642Phe)
c.1957A>T (p.Ile653Phe)
c.1945A>T (p.Ile649Phe)
c.1936A>T (p.Ile646Phe)
c.1837A>T (p.Ile613Phe)
c.1825A>T (p.Ile609Phe)
c.1222A>T (p.Ile408Phe)
19g.18060073T>CCA404775561IL12RB1c.1804A>G (p.Ile602Val)
c.1924A>G (p.Ile642Val)
c.1957A>G (p.Ile653Val)
c.1945A>G (p.Ile649Val)
c.1936A>G (p.Ile646Val)
c.1837A>G (p.Ile613Val)
c.1825A>G (p.Ile609Val)
c.1222A>G (p.Ile408Val)
 gnomAD v4
19g.18060073T>GCA404775563IL12RB1c.1804A>C (p.Ile602Leu)
c.1924A>C (p.Ile642Leu)
c.1957A>C (p.Ile653Leu)
c.1945A>C (p.Ile649Leu)
c.1936A>C (p.Ile646Leu)
c.1837A>C (p.Ile613Leu)
c.1825A>C (p.Ile609Leu)
c.1222A>C (p.Ile408Leu)
19g.18060074C>ACA404775566IL12RB1c.1803G>T (p.Trp601Cys)
c.1923G>T (p.Trp641Cys)
c.1956G>T (p.Trp652Cys)
c.1944G>T (p.Trp648Cys)
c.1935G>T (p.Trp645Cys)
c.1836G>T (p.Trp612Cys)
c.1824G>T (p.Trp608Cys)
c.1221G>T (p.Trp407Cys)
 gnomAD v4
19g.18060074C>GCA404775567IL12RB1c.1803G>C (p.Trp601Cys)
c.1923G>C (p.Trp641Cys)
c.1956G>C (p.Trp652Cys)
c.1944G>C (p.Trp648Cys)
c.1935G>C (p.Trp645Cys)
c.1836G>C (p.Trp612Cys)
c.1824G>C (p.Trp608Cys)
c.1221G>C (p.Trp407Cys)
19g.18060074C>TCA404775570IL12RB1c.1803G>A (p.Trp601Ter)
c.1923G>A (p.Trp641Ter)
c.1956G>A (p.Trp652Ter)
c.1944G>A (p.Trp648Ter)
c.1935G>A (p.Trp645Ter)
c.1836G>A (p.Trp612Ter)
c.1824G>A (p.Trp608Ter)
c.1221G>A (p.Trp407Ter)
 COSMIC COSMIC
19g.18060075delCA2583508606IL12RB1c.1803del (p.Trp601Ter)
c.1923del (p.Trp641Ter)
c.1956del (p.Trp652Ter)
c.1944del (p.Trp648Ter)
c.1935del (p.Trp645Ter)
c.1836del (p.Trp612Ter)
c.1824del (p.Trp608Ter)
c.1221del (p.Trp407Ter)
 gnomAD v4
19g.18060075C>ACA404775572IL12RB1c.1802G>T (p.Trp601Leu)
c.1922G>T (p.Trp641Leu)
c.1955G>T (p.Trp652Leu)
c.1943G>T (p.Trp648Leu)
c.1934G>T (p.Trp645Leu)
c.1835G>T (p.Trp612Leu)
c.1823G>T (p.Trp608Leu)
c.1220G>T (p.Trp407Leu)
 gnomAD v4
19g.18060075C>GCA404775574IL12RB1c.1802G>C (p.Trp601Ser)
c.1922G>C (p.Trp641Ser)
c.1955G>C (p.Trp652Ser)
c.1943G>C (p.Trp648Ser)
c.1934G>C (p.Trp645Ser)
c.1835G>C (p.Trp612Ser)
c.1823G>C (p.Trp608Ser)
c.1220G>C (p.Trp407Ser)
19g.18060075C>TCA404775576IL12RB1c.1802G>A (p.Trp601Ter)
c.1922G>A (p.Trp641Ter)
c.1955G>A (p.Trp652Ter)
c.1943G>A (p.Trp648Ter)
c.1934G>A (p.Trp645Ter)
c.1835G>A (p.Trp612Ter)
c.1823G>A (p.Trp608Ter)
c.1220G>A (p.Trp407Ter)
 gnomAD v4
19g.18060076A>CCA404775578IL12RB1c.1801T>G (p.Trp601Gly)
c.1921T>G (p.Trp641Gly)
c.1954T>G (p.Trp652Gly)
c.1942T>G (p.Trp648Gly)
c.1933T>G (p.Trp645Gly)
c.1834T>G (p.Trp612Gly)
c.1822T>G (p.Trp608Gly)
c.1219T>G (p.Trp407Gly)
19g.18060076A>GCA404775579IL12RB1c.1801T>C (p.Trp601Arg)
c.1921T>C (p.Trp641Arg)
c.1954T>C (p.Trp652Arg)
c.1942T>C (p.Trp648Arg)
c.1933T>C (p.Trp645Arg)
c.1834T>C (p.Trp612Arg)
c.1822T>C (p.Trp608Arg)
c.1219T>C (p.Trp407Arg)
19g.18060076A>TCA404775577IL12RB1c.1801T>A (p.Trp601Arg)
c.1921T>A (p.Trp641Arg)
c.1954T>A (p.Trp652Arg)
c.1942T>A (p.Trp648Arg)
c.1933T>A (p.Trp645Arg)
c.1834T>A (p.Trp612Arg)
c.1822T>A (p.Trp608Arg)
c.1219T>A (p.Trp407Arg)
19g.18060077C>ACA404775580IL12RB1c.1800G>T (p.Gln600His)
c.1920G>T (p.Gln640His)
c.1953G>T (p.Gln651His)
c.1941G>T (p.Gln647His)
c.1932G>T (p.Gln644His)
c.1833G>T (p.Gln611His)
c.1821G>T (p.Gln607His)
c.1218G>T (p.Gln406His)
 gnomAD v4
19g.18060077C=CA2326165216IL12RB1c.1800G= (p.Gln600=)
c.1920G= (p.Gln640=)
c.1953G= (p.Gln651=)
c.1941G= (p.Gln647=)
c.1932G= (p.Gln644=)
c.1833G= (p.Gln611=)
c.1821G= (p.Gln607=)
c.1218G= (p.Gln406=)
19g.18060077C>GCA404775582IL12RB1c.1800G>C (p.Gln600His)
c.1920G>C (p.Gln640His)
c.1953G>C (p.Gln651His)
c.1941G>C (p.Gln647His)
c.1932G>C (p.Gln644His)
c.1833G>C (p.Gln611His)
c.1821G>C (p.Gln607His)
c.1218G>C (p.Gln406His)
19g.18060077C>TCA506026500IL12RB1c.1800G>A (p.Gln600=)
c.1920G>A (p.Gln640=)
c.1953G>A (p.Gln651=)
c.1941G>A (p.Gln647=)
c.1932G>A (p.Gln644=)
c.1833G>A (p.Gln611=)
c.1821G>A (p.Gln607=)
c.1218G>A (p.Gln406=)
 dbSNP gnomAD v4
19g.18060078T>ACA404775584IL12RB1c.1799A>T (p.Gln600Leu)
c.1919A>T (p.Gln640Leu)
c.1952A>T (p.Gln651Leu)
c.1940A>T (p.Gln647Leu)
c.1931A>T (p.Gln644Leu)
c.1832A>T (p.Gln611Leu)
c.1820A>T (p.Gln607Leu)
c.1217A>T (p.Gln406Leu)
19g.18060078T>CCA404775585IL12RB1c.1799A>G (p.Gln600Arg)
c.1919A>G (p.Gln640Arg)
c.1952A>G (p.Gln651Arg)
c.1940A>G (p.Gln647Arg)
c.1931A>G (p.Gln644Arg)
c.1832A>G (p.Gln611Arg)
c.1820A>G (p.Gln607Arg)
c.1217A>G (p.Gln406Arg)
19g.18060078T>GCA404775587IL12RB1c.1799A>C (p.Gln600Pro)
c.1919A>C (p.Gln640Pro)
c.1952A>C (p.Gln651Pro)
c.1940A>C (p.Gln647Pro)
c.1931A>C (p.Gln644Pro)
c.1832A>C (p.Gln611Pro)
c.1820A>C (p.Gln607Pro)
c.1217A>C (p.Gln406Pro)
19g.18060079G>ACA404775593IL12RB1c.1798C>T (p.Gln600Ter)
c.1918C>T (p.Gln640Ter)
c.1951C>T (p.Gln651Ter)
c.1939C>T (p.Gln647Ter)
c.1930C>T (p.Gln644Ter)
c.1831C>T (p.Gln611Ter)
c.1819C>T (p.Gln607Ter)
c.1216C>T (p.Gln406Ter)
 gnomAD v4
19g.18060079G>CCA404775591IL12RB1c.1798C>G (p.Gln600Glu)
c.1918C>G (p.Gln640Glu)
c.1951C>G (p.Gln651Glu)
c.1939C>G (p.Gln647Glu)
c.1930C>G (p.Gln644Glu)
c.1831C>G (p.Gln611Glu)
c.1819C>G (p.Gln607Glu)
c.1216C>G (p.Gln406Glu)
19g.18060079G>TCA404775589IL12RB1c.1798C>A (p.Gln600Lys)
c.1918C>A (p.Gln640Lys)
c.1951C>A (p.Gln651Lys)
c.1939C>A (p.Gln647Lys)
c.1930C>A (p.Gln644Lys)
c.1831C>A (p.Gln611Lys)
c.1819C>A (p.Gln607Lys)
c.1216C>A (p.Gln406Lys)
 gnomAD v4

Number of alleles fetched