Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101764918C>ACA343362GNPTABc.1999G>T (p.Glu667Ter)
c.1918G>T (p.Glu640Ter)
c.1783G>T (p.Glu595Ter)
c.772G>T (p.Glu258Ter)
 ClinVar dbSNP
12g.101764918C=CA2058955608GNPTABc.1999G= (p.Glu667=)
c.1918G= (p.Glu640=)
c.1783G= (p.Glu595=)
c.772G= (p.Glu258=)
12g.101764918C>GCA386299223GNPTABc.1999G>C (p.Glu667Gln)
c.1918G>C (p.Glu640Gln)
c.1783G>C (p.Glu595Gln)
c.772G>C (p.Glu258Gln)
12g.101764918C>TCA386299224GNPTABc.1999G>A (p.Glu667Lys)
c.1918G>A (p.Glu640Lys)
c.1783G>A (p.Glu595Lys)
c.772G>A (p.Glu258Lys)
12g.101764919A=CA2058955609GNPTABc.1998T= (p.Phe666=)
c.1917T= (p.Phe639=)
c.1782T= (p.Phe594=)
c.771T= (p.Phe257=)
12g.101764919A>CCA386299225GNPTABc.1998T>G (p.Phe666Leu)
c.1917T>G (p.Phe639Leu)
c.1782T>G (p.Phe594Leu)
c.771T>G (p.Phe257Leu)
12g.101764919A>GCA6746492GNPTABc.1998T>C (p.Phe666=)
c.1917T>C (p.Phe639=)
c.1782T>C (p.Phe594=)
c.771T>C (p.Phe257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764919A>TCA386299226GNPTABc.1998T>A (p.Phe666Leu)
c.1917T>A (p.Phe639Leu)
c.1782T>A (p.Phe594Leu)
c.771T>A (p.Phe257Leu)
12g.101764920A=CA2058955610GNPTABc.1997T= (p.Phe666=)
c.1916T= (p.Phe639=)
c.1781T= (p.Phe594=)
c.770T= (p.Phe257=)
12g.101764920A>CCA386299227GNPTABc.1997T>G (p.Phe666Cys)
c.1916T>G (p.Phe639Cys)
c.1781T>G (p.Phe594Cys)
c.770T>G (p.Phe257Cys)
12g.101764920A>GCA386299228GNPTABc.1997T>C (p.Phe666Ser)
c.1916T>C (p.Phe639Ser)
c.1781T>C (p.Phe594Ser)
c.770T>C (p.Phe257Ser)
 dbSNP gnomAD v4
12g.101764920A>TCA386299229GNPTABc.1997T>A (p.Phe666Tyr)
c.1916T>A (p.Phe639Tyr)
c.1781T>A (p.Phe594Tyr)
c.770T>A (p.Phe257Tyr)
 gnomAD v4
12g.101764920_101764921insTTTTTCA951176046GNPTABc.1996_1997insAAAAA (p.Phe666Ter)
c.1915_1916insAAAAA (p.Phe639Ter)
c.1780_1781insAAAAA (p.Phe594Ter)
c.769_770insAAAAA (p.Phe257Ter)
 gnomAD v3 gnomAD v4
12g.101764921A>CCA386299230GNPTABc.1996T>G (p.Phe666Val)
c.1915T>G (p.Phe639Val)
c.1780T>G (p.Phe594Val)
c.769T>G (p.Phe257Val)
12g.101764921A>GCA386299231GNPTABc.1996T>C (p.Phe666Leu)
c.1915T>C (p.Phe639Leu)
c.1780T>C (p.Phe594Leu)
c.769T>C (p.Phe257Leu)
12g.101764921A>TCA386299232GNPTABc.1996T>A (p.Phe666Ile)
c.1915T>A (p.Phe639Ile)
c.1780T>A (p.Phe594Ile)
c.769T>A (p.Phe257Ile)
12g.101764922A>CCA481576982GNPTABc.1995T>G (p.Leu665=)
c.1914T>G (p.Leu638=)
c.1779T>G (p.Leu593=)
c.768T>G (p.Leu256=)
12g.101764922A>GCA481576983GNPTABc.1995T>C (p.Leu665=)
c.1914T>C (p.Leu638=)
c.1779T>C (p.Leu593=)
c.768T>C (p.Leu256=)
12g.101764922A>TCA481576984GNPTABc.1995T>A (p.Leu665=)
c.1914T>A (p.Leu638=)
c.1779T>A (p.Leu593=)
c.768T>A (p.Leu256=)
12g.101764922_101764923insTCAACAAATCA951176048GNPTABc.1994_1995insATTTGTTGA (p.Leu665_Phe666insPheValAsp)
c.1913_1914insATTTGTTGA (p.Leu638_Phe639insPheValAsp)
c.1778_1779insATTTGTTGA (p.Leu593_Phe594insPheValAsp)
c.767_768insATTTGTTGA (p.Leu256_Phe257insPheValAsp)
 gnomAD v3 gnomAD v4
12g.101764923A>CCA386299235GNPTABc.1994T>G (p.Leu665Arg)
c.1913T>G (p.Leu638Arg)
c.1778T>G (p.Leu593Arg)
c.767T>G (p.Leu256Arg)
12g.101764923A>GCA386299233GNPTABc.1994T>C (p.Leu665Pro)
c.1913T>C (p.Leu638Pro)
c.1778T>C (p.Leu593Pro)
c.767T>C (p.Leu256Pro)
12g.101764923A>TCA386299234GNPTABc.1994T>A (p.Leu665His)
c.1913T>A (p.Leu638His)
c.1778T>A (p.Leu593His)
c.767T>A (p.Leu256His)
12g.101764924G>ACA386299236GNPTABc.1993C>T (p.Leu665Phe)
c.1912C>T (p.Leu638Phe)
c.1777C>T (p.Leu593Phe)
c.766C>T (p.Leu256Phe)
12g.101764924G>CCA6746493GNPTABc.1993C>G (p.Leu665Val)
c.1912C>G (p.Leu638Val)
c.1777C>G (p.Leu593Val)
c.766C>G (p.Leu256Val)
 dbSNP ExAC gnomAD v2
12g.101764924G=CA2058955611GNPTABc.1993C= (p.Leu665=)
c.1912C= (p.Leu638=)
c.1777C= (p.Leu593=)
c.766C= (p.Leu256=)
12g.101764924G>TCA386299237GNPTABc.1993C>A (p.Leu665Ile)
c.1912C>A (p.Leu638Ile)
c.1777C>A (p.Leu593Ile)
c.766C>A (p.Leu256Ile)
 COSMIC
12g.101764925G>ACA6746494GNPTABc.1992C>T (p.Ile664=)
c.1911C>T (p.Ile637=)
c.1776C>T (p.Ile592=)
c.765C>T (p.Ile255=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764925G>CCA386299238GNPTABc.1992C>G (p.Ile664Met)
c.1911C>G (p.Ile637Met)
c.1776C>G (p.Ile592Met)
c.765C>G (p.Ile255Met)
12g.101764925G=CA2058955612GNPTABc.1992C= (p.Ile664=)
c.1911C= (p.Ile637=)
c.1776C= (p.Ile592=)
c.765C= (p.Ile255=)
12g.101764925G>TCA481576985GNPTABc.1992C>A (p.Ile664=)
c.1911C>A (p.Ile637=)
c.1776C>A (p.Ile592=)
c.765C>A (p.Ile255=)
12g.101764926A>CCA386299239GNPTABc.1991T>G (p.Ile664Ser)
c.1910T>G (p.Ile637Ser)
c.1775T>G (p.Ile592Ser)
c.764T>G (p.Ile255Ser)
12g.101764926A>GCA386299240GNPTABc.1991T>C (p.Ile664Thr)
c.1910T>C (p.Ile637Thr)
c.1775T>C (p.Ile592Thr)
c.764T>C (p.Ile255Thr)
12g.101764926A>TCA386299241GNPTABc.1991T>A (p.Ile664Asn)
c.1910T>A (p.Ile637Asn)
c.1775T>A (p.Ile592Asn)
c.764T>A (p.Ile255Asn)
12g.101764927T>ACA386299242GNPTABc.1990A>T (p.Ile664Phe)
c.1909A>T (p.Ile637Phe)
c.1774A>T (p.Ile592Phe)
c.763A>T (p.Ile255Phe)
 gnomAD v4
12g.101764927T>CCA386299243GNPTABc.1990A>G (p.Ile664Val)
c.1909A>G (p.Ile637Val)
c.1774A>G (p.Ile592Val)
c.763A>G (p.Ile255Val)
12g.101764927T>GCA386299244GNPTABc.1990A>C (p.Ile664Leu)
c.1909A>C (p.Ile637Leu)
c.1774A>C (p.Ile592Leu)
c.763A>C (p.Ile255Leu)
12g.101764928T>ACA386299245GNPTABc.1989A>T (p.Glu663Asp)
c.1908A>T (p.Glu636Asp)
c.1773A>T (p.Glu591Asp)
c.762A>T (p.Glu254Asp)
12g.101764928T>CCA481576986GNPTABc.1989A>G (p.Glu663=)
c.1908A>G (p.Glu636=)
c.1773A>G (p.Glu591=)
c.762A>G (p.Glu254=)
12g.101764928T>GCA386299246GNPTABc.1989A>C (p.Glu663Asp)
c.1908A>C (p.Glu636Asp)
c.1773A>C (p.Glu591Asp)
c.762A>C (p.Glu254Asp)
12g.101764929T>ACA386299249GNPTABc.1988A>T (p.Glu663Val)
c.1907A>T (p.Glu636Val)
c.1772A>T (p.Glu591Val)
c.761A>T (p.Glu254Val)
12g.101764929T>CCA386299248GNPTABc.1988A>G (p.Glu663Gly)
c.1907A>G (p.Glu636Gly)
c.1772A>G (p.Glu591Gly)
c.761A>G (p.Glu254Gly)
 COSMIC
12g.101764929T>GCA386299247GNPTABc.1988A>C (p.Glu663Ala)
c.1907A>C (p.Glu636Ala)
c.1772A>C (p.Glu591Ala)
c.761A>C (p.Glu254Ala)
12g.101764930C>ACA386299252GNPTABc.1987G>T (p.Glu663Ter)
c.1906G>T (p.Glu636Ter)
c.1771G>T (p.Glu591Ter)
c.760G>T (p.Glu254Ter)
12g.101764930C>GCA386299250GNPTABc.1987G>C (p.Glu663Gln)
c.1906G>C (p.Glu636Gln)
c.1771G>C (p.Glu591Gln)
c.760G>C (p.Glu254Gln)
12g.101764930C>TCA386299251GNPTABc.1987G>A (p.Glu663Lys)
c.1906G>A (p.Glu636Lys)
c.1771G>A (p.Glu591Lys)
c.760G>A (p.Glu254Lys)
12g.101764931C>ACA481576987GNPTABc.1986G>T (p.Ala662=)
c.1905G>T (p.Ala635=)
c.1770G>T (p.Ala590=)
c.759G>T (p.Ala253=)
12g.101764931C=CA2058955613GNPTABc.1986G= (p.Ala662=)
c.1905G= (p.Ala635=)
c.1770G= (p.Ala590=)
c.759G= (p.Ala253=)
12g.101764931C>GCA481576988GNPTABc.1986G>C (p.Ala662=)
c.1905G>C (p.Ala635=)
c.1770G>C (p.Ala590=)
c.759G>C (p.Ala253=)
12g.101764931C>TCA6746495GNPTABc.1986G>A (p.Ala662=)
c.1905G>A (p.Ala635=)
c.1770G>A (p.Ala590=)
c.759G>A (p.Ala253=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764932G>ACA242456834GNPTABc.1985C>T (p.Ala662Val)
c.1904C>T (p.Ala635Val)
c.1769C>T (p.Ala590Val)
c.758C>T (p.Ala253Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101764932G>CCA343064GNPTABc.1985C>G (p.Ala662Gly)
c.1904C>G (p.Ala635Gly)
c.1769C>G (p.Ala590Gly)
c.758C>G (p.Ala253Gly)
 ClinVar dbSNP
12g.101764932G=CA2058955614GNPTABc.1985C= (p.Ala662=)
c.1904C= (p.Ala635=)
c.1769C= (p.Ala590=)
c.758C= (p.Ala253=)
12g.101764932G>TCA386299253GNPTABc.1985C>A (p.Ala662Glu)
c.1904C>A (p.Ala635Glu)
c.1769C>A (p.Ala590Glu)
c.758C>A (p.Ala253Glu)
12g.101764933C>ACA386299256GNPTABc.1984G>T (p.Ala662Ser)
c.1903G>T (p.Ala635Ser)
c.1768G>T (p.Ala590Ser)
c.757G>T (p.Ala253Ser)
12g.101764933C>GCA386299254GNPTABc.1984G>C (p.Ala662Pro)
c.1903G>C (p.Ala635Pro)
c.1768G>C (p.Ala590Pro)
c.757G>C (p.Ala253Pro)
12g.101764933C>TCA386299255GNPTABc.1984G>A (p.Ala662Thr)
c.1903G>A (p.Ala635Thr)
c.1768G>A (p.Ala590Thr)
c.757G>A (p.Ala253Thr)
12g.101764934C>ACA386299257GNPTABc.1983G>T (p.Glu661Asp)
c.1902G>T (p.Glu634Asp)
c.1767G>T (p.Glu589Asp)
c.756G>T (p.Glu252Asp)
12g.101764934C>GCA386299258GNPTABc.1983G>C (p.Glu661Asp)
c.1902G>C (p.Glu634Asp)
c.1767G>C (p.Glu589Asp)
c.756G>C (p.Glu252Asp)
12g.101764934C>TCA481576989GNPTABc.1983G>A (p.Glu661=)
c.1902G>A (p.Glu634=)
c.1767G>A (p.Glu589=)
c.756G>A (p.Glu252=)
12g.101764935T>ACA386299259GNPTABc.1982A>T (p.Glu661Val)
c.1901A>T (p.Glu634Val)
c.1766A>T (p.Glu589Val)
c.755A>T (p.Glu252Val)
12g.101764935T>CCA386299260GNPTABc.1982A>G (p.Glu661Gly)
c.1901A>G (p.Glu634Gly)
c.1766A>G (p.Glu589Gly)
c.755A>G (p.Glu252Gly)
12g.101764935T>GCA386299261GNPTABc.1982A>C (p.Glu661Ala)
c.1901A>C (p.Glu634Ala)
c.1766A>C (p.Glu589Ala)
c.755A>C (p.Glu252Ala)
12g.101764936C>ACA386299264GNPTABc.1981G>T (p.Glu661Ter)
c.1900G>T (p.Glu634Ter)
c.1765G>T (p.Glu589Ter)
c.754G>T (p.Glu252Ter)
12g.101764936C=CA2058955615GNPTABc.1981G= (p.Glu661=)
c.1900G= (p.Glu634=)
c.1765G= (p.Glu589=)
c.754G= (p.Glu252=)
12g.101764936C>GCA386299262GNPTABc.1981G>C (p.Glu661Gln)
c.1900G>C (p.Glu634Gln)
c.1765G>C (p.Glu589Gln)
c.754G>C (p.Glu252Gln)
 dbSNP gnomAD v2 gnomAD v4
12g.101764936C>TCA386299263GNPTABc.1981G>A (p.Glu661Lys)
c.1900G>A (p.Glu634Lys)
c.1765G>A (p.Glu589Lys)
c.754G>A (p.Glu252Lys)
 gnomAD v4
12g.101764937T>ACA481576990GNPTABc.1980A>T (p.Pro660=)
c.1899A>T (p.Pro633=)
c.1764A>T (p.Pro588=)
c.753A>T (p.Pro251=)
12g.101764937T>CCA481576991GNPTABc.1980A>G (p.Pro660=)
c.1899A>G (p.Pro633=)
c.1764A>G (p.Pro588=)
c.753A>G (p.Pro251=)
12g.101764937T>GCA481576992GNPTABc.1980A>C (p.Pro660=)
c.1899A>C (p.Pro633=)
c.1764A>C (p.Pro588=)
c.753A>C (p.Pro251=)
12g.101764938G>ACA6746497GNPTABc.1979C>T (p.Pro660Leu)
c.1898C>T (p.Pro633Leu)
c.1763C>T (p.Pro588Leu)
c.752C>T (p.Pro251Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764938G>CCA386299265GNPTABc.1979C>G (p.Pro660Arg)
c.1898C>G (p.Pro633Arg)
c.1763C>G (p.Pro588Arg)
c.752C>G (p.Pro251Arg)
12g.101764938G=CA2058955617GNPTABc.1979C= (p.Pro660=)
c.1898C= (p.Pro633=)
c.1763C= (p.Pro588=)
c.752C= (p.Pro251=)
12g.101764938G>TCA386299266GNPTABc.1979C>A (p.Pro660Gln)
c.1898C>A (p.Pro633Gln)
c.1763C>A (p.Pro588Gln)
c.752C>A (p.Pro251Gln)
12g.101764938_101764941delinsGGAACA2058955616GNPTABc.1976_1979delinsTTCC (p.Leu659=)
c.1895_1898delinsTTCC (p.Leu632=)
c.1760_1763delinsTTCC (p.Leu587=)
c.749_752delinsTTCC (p.Leu250=)
12g.101764939_101764942delCA912973320GNPTABc.1976_1979del (p.Leu659GlnfsTer?)
c.1895_1898del (p.Leu632GlnfsTer?)
c.1760_1763del (p.Leu587GlnfsTer?)
c.749_752del (p.Leu250GlnfsTer?)
12g.101764939G>ACA386299267GNPTABc.1978C>T (p.Pro660Ser)
c.1897C>T (p.Pro633Ser)
c.1762C>T (p.Pro588Ser)
c.751C>T (p.Pro251Ser)
12g.101764939G>CCA386299268GNPTABc.1978C>G (p.Pro660Ala)
c.1897C>G (p.Pro633Ala)
c.1762C>G (p.Pro588Ala)
c.751C>G (p.Pro251Ala)
12g.101764939G>TCA386299269GNPTABc.1978C>A (p.Pro660Thr)
c.1897C>A (p.Pro633Thr)
c.1762C>A (p.Pro588Thr)
c.751C>A (p.Pro251Thr)
12g.101764943_101764945delCA6746496GNPTABc.1976_1978del (p.Leu659del)
c.1895_1897del (p.Leu632del)
c.1760_1762del (p.Leu587del)
c.749_751del (p.Leu250del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764940A>CCA481576993GNPTABc.1977T>G (p.Leu659=)
c.1896T>G (p.Leu632=)
c.1761T>G (p.Leu587=)
c.750T>G (p.Leu250=)
12g.101764940A>GCA481576994GNPTABc.1977T>C (p.Leu659=)
c.1896T>C (p.Leu632=)
c.1761T>C (p.Leu587=)
c.750T>C (p.Leu250=)
12g.101764940A>TCA481576995GNPTABc.1977T>A (p.Leu659=)
c.1896T>A (p.Leu632=)
c.1761T>A (p.Leu587=)
c.750T>A (p.Leu250=)
 gnomAD v4
12g.101764941delCA2499221388GNPTABc.1977del (p.Pro660GlnfsTer?)
c.1896del (p.Pro633GlnfsTer?)
c.1761del (p.Pro588GlnfsTer?)
c.750del (p.Pro251GlnfsTer?)
 dbSNP
12g.101764941A=CA2058955618GNPTABc.1976T= (p.Leu659=)
c.1895T= (p.Leu632=)
c.1760T= (p.Leu587=)
c.749T= (p.Leu250=)
12g.101764941A>CCA386299270GNPTABc.1976T>G (p.Leu659Arg)
c.1895T>G (p.Leu632Arg)
c.1760T>G (p.Leu587Arg)
c.749T>G (p.Leu250Arg)
 gnomAD v4
12g.101764941A>GCA386299271GNPTABc.1976T>C (p.Leu659Pro)
c.1895T>C (p.Leu632Pro)
c.1760T>C (p.Leu587Pro)
c.749T>C (p.Leu250Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.101764941A>TCA386299272GNPTABc.1976T>A (p.Leu659His)
c.1895T>A (p.Leu632His)
c.1760T>A (p.Leu587His)
c.749T>A (p.Leu250His)
12g.101764942G>ACA386299273GNPTABc.1975C>T (p.Leu659Phe)
c.1894C>T (p.Leu632Phe)
c.1759C>T (p.Leu587Phe)
c.748C>T (p.Leu250Phe)
12g.101764942G>CCA386299274GNPTABc.1975C>G (p.Leu659Val)
c.1894C>G (p.Leu632Val)
c.1759C>G (p.Leu587Val)
c.748C>G (p.Leu250Val)
12g.101764942G>TCA386299275GNPTABc.1975C>A (p.Leu659Ile)
c.1894C>A (p.Leu632Ile)
c.1759C>A (p.Leu587Ile)
c.748C>A (p.Leu250Ile)
12g.101764943A>CCA481576996GNPTABc.1974T>G (p.Leu658=)
c.1893T>G (p.Leu631=)
c.1758T>G (p.Leu586=)
c.747T>G (p.Leu249=)
12g.101764943A>GCA481576997GNPTABc.1974T>C (p.Leu658=)
c.1893T>C (p.Leu631=)
c.1758T>C (p.Leu586=)
c.747T>C (p.Leu249=)
12g.101764943A>TCA481576998GNPTABc.1974T>A (p.Leu658=)
c.1893T>A (p.Leu631=)
c.1758T>A (p.Leu586=)
c.747T>A (p.Leu249=)
12g.101764944A>CCA386299278GNPTABc.1973T>G (p.Leu658Arg)
c.1892T>G (p.Leu631Arg)
c.1757T>G (p.Leu586Arg)
c.746T>G (p.Leu249Arg)
12g.101764944A>GCA386299276GNPTABc.1973T>C (p.Leu658Pro)
c.1892T>C (p.Leu631Pro)
c.1757T>C (p.Leu586Pro)
c.746T>C (p.Leu249Pro)
12g.101764944A>TCA386299277GNPTABc.1973T>A (p.Leu658His)
c.1892T>A (p.Leu631His)
c.1757T>A (p.Leu586His)
c.746T>A (p.Leu249His)
12g.101764945G>ACA386299279GNPTABc.1972C>T (p.Leu658Phe)
c.1891C>T (p.Leu631Phe)
c.1756C>T (p.Leu586Phe)
c.745C>T (p.Leu249Phe)
12g.101764945G>CCA386299280GNPTABc.1972C>G (p.Leu658Val)
c.1891C>G (p.Leu631Val)
c.1756C>G (p.Leu586Val)
c.745C>G (p.Leu249Val)
12g.101764945G>TCA386299281GNPTABc.1972C>A (p.Leu658Ile)
c.1891C>A (p.Leu631Ile)
c.1756C>A (p.Leu586Ile)
c.745C>A (p.Leu249Ile)
12g.101764946T>ACA481577001GNPTABc.1971A>T (p.Thr657=)
c.1890A>T (p.Thr630=)
c.1755A>T (p.Thr585=)
c.744A>T (p.Thr248=)
 ClinVar
12g.101764946T>CCA481577000GNPTABc.1971A>G (p.Thr657=)
c.1890A>G (p.Thr630=)
c.1755A>G (p.Thr585=)
c.744A>G (p.Thr248=)
 gnomAD v4
12g.101764946T>GCA481576999GNPTABc.1971A>C (p.Thr657=)
c.1890A>C (p.Thr630=)
c.1755A>C (p.Thr585=)
c.744A>C (p.Thr248=)
 ClinVar gnomAD v4
12g.101764947G>ACA386299282GNPTABc.1970C>T (p.Thr657Ile)
c.1889C>T (p.Thr630Ile)
c.1754C>T (p.Thr585Ile)
c.743C>T (p.Thr248Ile)
12g.101764947G>CCA386299283GNPTABc.1970C>G (p.Thr657Arg)
c.1889C>G (p.Thr630Arg)
c.1754C>G (p.Thr585Arg)
c.743C>G (p.Thr248Arg)
12g.101764947G>TCA386299284GNPTABc.1970C>A (p.Thr657Lys)
c.1889C>A (p.Thr630Lys)
c.1754C>A (p.Thr585Lys)
c.743C>A (p.Thr248Lys)
12g.101764948T>ACA386299285GNPTABc.1969A>T (p.Thr657Ser)
c.1888A>T (p.Thr630Ser)
c.1753A>T (p.Thr585Ser)
c.742A>T (p.Thr248Ser)
12g.101764948T>CCA386299286GNPTABc.1969A>G (p.Thr657Ala)
c.1888A>G (p.Thr630Ala)
c.1753A>G (p.Thr585Ala)
c.742A>G (p.Thr248Ala)
12g.101764948T>GCA386299287GNPTABc.1969A>C (p.Thr657Pro)
c.1888A>C (p.Thr630Pro)
c.1753A>C (p.Thr585Pro)
c.742A>C (p.Thr248Pro)
12g.101764949T>ACA481577002GNPTABc.1968A>T (p.Ile656=)
c.1887A>T (p.Ile629=)
c.1752A>T (p.Ile584=)
c.741A>T (p.Ile247=)
12g.101764949T>CCA386299288GNPTABc.1968A>G (p.Ile656Met)
c.1887A>G (p.Ile629Met)
c.1752A>G (p.Ile584Met)
c.741A>G (p.Ile247Met)
12g.101764949T>GCA481577003GNPTABc.1968A>C (p.Ile656=)
c.1887A>C (p.Ile629=)
c.1752A>C (p.Ile584=)
c.741A>C (p.Ile247=)
12g.101764950A=CA2058955619GNPTABc.1967T= (p.Ile656=)
c.1886T= (p.Ile629=)
c.1751T= (p.Ile584=)
c.740T= (p.Ile247=)
12g.101764950A>CCA386299289GNPTABc.1967T>G (p.Ile656Arg)
c.1886T>G (p.Ile629Arg)
c.1751T>G (p.Ile584Arg)
c.740T>G (p.Ile247Arg)
12g.101764950A>GCA242456840GNPTABc.1967T>C (p.Ile656Thr)
c.1886T>C (p.Ile629Thr)
c.1751T>C (p.Ile584Thr)
c.740T>C (p.Ile247Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.101764950A>TCA386299290GNPTABc.1967T>A (p.Ile656Lys)
c.1886T>A (p.Ile629Lys)
c.1751T>A (p.Ile584Lys)
c.740T>A (p.Ile247Lys)
12g.101764951T>ACA386299292GNPTABc.1966A>T (p.Ile656Leu)
c.1885A>T (p.Ile629Leu)
c.1750A>T (p.Ile584Leu)
c.739A>T (p.Ile247Leu)
12g.101764951T>CCA386299291GNPTABc.1966A>G (p.Ile656Val)
c.1885A>G (p.Ile629Val)
c.1750A>G (p.Ile584Val)
c.739A>G (p.Ile247Val)
 dbSNP gnomAD v4
12g.101764951T>GCA6746498GNPTABc.1966A>C (p.Ile656Leu)
c.1885A>C (p.Ile629Leu)
c.1750A>C (p.Ile584Leu)
c.739A>C (p.Ile247Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764951T=CA2058955621GNPTABc.1966A= (p.Ile656=)
c.1885A= (p.Ile629=)
c.1750A= (p.Ile584=)
c.739A= (p.Ile247=)
12g.101764951_101764952delinsTGCA2058955620GNPTABc.1965_1966delinsCA (p.Pro655=)
c.1884_1885delinsCA (p.Pro628=)
c.1749_1750delinsCA (p.Pro583=)
c.738_739delinsCA (p.Pro246=)
12g.101764952G>ACA481577006GNPTABc.1965C>T (p.Pro655=)
c.1884C>T (p.Pro628=)
c.1749C>T (p.Pro583=)
c.738C>T (p.Pro246=)
 ClinVar dbSNP gnomAD v4
12g.101764952G>CCA481577004GNPTABc.1965C>G (p.Pro655=)
c.1884C>G (p.Pro628=)
c.1749C>G (p.Pro583=)
c.738C>G (p.Pro246=)
12g.101764952G>TCA481577005GNPTABc.1965C>A (p.Pro655=)
c.1884C>A (p.Pro628=)
c.1749C>A (p.Pro583=)
c.738C>A (p.Pro246=)
12g.101764954delCA343361GNPTABc.1965del (p.Ile656Ter)
c.1884del (p.Ile629Ter)
c.1749del (p.Ile584Ter)
c.738del (p.Ile247Ter)
 ClinVar dbSNP gnomAD v4
12g.101764953G>ACA386299293GNPTABc.1964C>T (p.Pro655Leu)
c.1883C>T (p.Pro628Leu)
c.1748C>T (p.Pro583Leu)
c.737C>T (p.Pro246Leu)
12g.101764953G>CCA386299294GNPTABc.1964C>G (p.Pro655Arg)
c.1883C>G (p.Pro628Arg)
c.1748C>G (p.Pro583Arg)
c.737C>G (p.Pro246Arg)
12g.101764953G>TCA386299295GNPTABc.1964C>A (p.Pro655His)
c.1883C>A (p.Pro628His)
c.1748C>A (p.Pro583His)
c.737C>A (p.Pro246His)
 gnomAD v4
12g.101764954G>ACA242456855GNPTABc.1963C>T (p.Pro655Ser)
c.1882C>T (p.Pro628Ser)
c.1747C>T (p.Pro583Ser)
c.736C>T (p.Pro246Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101764954G>CCA386299296GNPTABc.1963C>G (p.Pro655Ala)
c.1882C>G (p.Pro628Ala)
c.1747C>G (p.Pro583Ala)
c.736C>G (p.Pro246Ala)
12g.101764954G=CA2058955623GNPTABc.1963C= (p.Pro655=)
c.1882C= (p.Pro628=)
c.1747C= (p.Pro583=)
c.736C= (p.Pro246=)
12g.101764954G>TCA386299297GNPTABc.1963C>A (p.Pro655Thr)
c.1882C>A (p.Pro628Thr)
c.1747C>A (p.Pro583Thr)
c.736C>A (p.Pro246Thr)
12g.101764954_101764958delinsGACTACA2058955622GNPTABc.1959_1963delinsTAGTC (p.Val653=)
c.1878_1882delinsTAGTC (p.Val626=)
c.1743_1747delinsTAGTC (p.Val581=)
c.732_736delinsTAGTC (p.Val244=)
12g.101764955A>CCA386299298GNPTABc.1962T>G (p.Ser654Arg)
c.1881T>G (p.Ser627Arg)
c.1746T>G (p.Ser582Arg)
c.735T>G (p.Ser245Arg)
12g.101764955A>GCA481577007GNPTABc.1962T>C (p.Ser654=)
c.1881T>C (p.Ser627=)
c.1746T>C (p.Ser582=)
c.735T>C (p.Ser245=)
 ClinVar
12g.101764955A>TCA386299299GNPTABc.1962T>A (p.Ser654Arg)
c.1881T>A (p.Ser627Arg)
c.1746T>A (p.Ser582Arg)
c.735T>A (p.Ser245Arg)
12g.101764960_101764963delCA343360GNPTABc.1959_1962del (p.Ser654ProfsTer2)
c.1878_1881del (p.Ser627ProfsTer2)
c.1743_1746del (p.Ser582ProfsTer2)
c.732_735del (p.Ser245ProfsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764956C>ACA386299300GNPTABc.1961G>T (p.Ser654Ile)
c.1880G>T (p.Ser627Ile)
c.1745G>T (p.Ser582Ile)
c.734G>T (p.Ser245Ile)
12g.101764956C>GCA386299301GNPTABc.1961G>C (p.Ser654Thr)
c.1880G>C (p.Ser627Thr)
c.1745G>C (p.Ser582Thr)
c.734G>C (p.Ser245Thr)
12g.101764956C>TCA386299302GNPTABc.1961G>A (p.Ser654Asn)
c.1880G>A (p.Ser627Asn)
c.1745G>A (p.Ser582Asn)
c.734G>A (p.Ser245Asn)
12g.101764956_101764958delinsCTACA2058955624GNPTABc.1959_1961delinsTAG (p.Val653=)
c.1878_1880delinsTAG (p.Val626=)
c.1743_1745delinsTAG (p.Val581=)
c.732_734delinsTAG (p.Val244=)
12g.101764957T>ACA386299304GNPTABc.1960A>T (p.Ser654Cys)
c.1879A>T (p.Ser627Cys)
c.1744A>T (p.Ser582Cys)
c.733A>T (p.Ser245Cys)
 ClinVar dbSNP
12g.101764957T>CCA6746499GNPTABc.1960A>G (p.Ser654Gly)
c.1879A>G (p.Ser627Gly)
c.1744A>G (p.Ser582Gly)
c.733A>G (p.Ser245Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764957T>GCA386299303GNPTABc.1960A>C (p.Ser654Arg)
c.1879A>C (p.Ser627Arg)
c.1744A>C (p.Ser582Arg)
c.733A>C (p.Ser245Arg)
12g.101764957T=CA2058955625GNPTABc.1960A= (p.Ser654=)
c.1879A= (p.Ser627=)
c.1744A= (p.Ser582=)
c.733A= (p.Ser245=)
12g.101764957_101764958delCA607597818GNPTABc.1959_1960del (p.Pro655HisfsTer12)
c.1878_1879del (p.Pro628HisfsTer12)
c.1743_1744del (p.Pro583HisfsTer12)
c.732_733del (p.Pro246HisfsTer12)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101764958A=CA2058955626GNPTABc.1959T= (p.Val653=)
c.1878T= (p.Val626=)
c.1743T= (p.Val581=)
c.732T= (p.Val244=)
12g.101764958A>CCA481577008GNPTABc.1959T>G (p.Val653=)
c.1878T>G (p.Val626=)
c.1743T>G (p.Val581=)
c.732T>G (p.Val244=)
 ClinVar
12g.101764958A>GCA242456864GNPTABc.1959T>C (p.Val653=)
c.1878T>C (p.Val626=)
c.1743T>C (p.Val581=)
c.732T>C (p.Val244=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101764958A>TCA481577009GNPTABc.1959T>A (p.Val653=)
c.1878T>A (p.Val626=)
c.1743T>A (p.Val581=)
c.732T>A (p.Val244=)
12g.101764959A>CCA386299305GNPTABc.1958T>G (p.Val653Gly)
c.1877T>G (p.Val626Gly)
c.1742T>G (p.Val581Gly)
c.731T>G (p.Val244Gly)
12g.101764959A>GCA386299307GNPTABc.1958T>C (p.Val653Ala)
c.1877T>C (p.Val626Ala)
c.1742T>C (p.Val581Ala)
c.731T>C (p.Val244Ala)
12g.101764959A>TCA386299306GNPTABc.1958T>A (p.Val653Asp)
c.1877T>A (p.Val626Asp)
c.1742T>A (p.Val581Asp)
c.731T>A (p.Val244Asp)
12g.101764960C>ACA386299308GNPTABc.1957G>T (p.Val653Phe)
c.1876G>T (p.Val626Phe)
c.1741G>T (p.Val581Phe)
c.730G>T (p.Val244Phe)
12g.101764960C=CA2058955627GNPTABc.1957G= (p.Val653=)
c.1876G= (p.Val626=)
c.1741G= (p.Val581=)
c.730G= (p.Val244=)
12g.101764960C>GCA386299309GNPTABc.1957G>C (p.Val653Leu)
c.1876G>C (p.Val626Leu)
c.1741G>C (p.Val581Leu)
c.730G>C (p.Val244Leu)
12g.101764960C>TCA386299310GNPTABc.1957G>A (p.Val653Ile)
c.1876G>A (p.Val626Ile)
c.1741G>A (p.Val581Ile)
c.730G>A (p.Val244Ile)
12g.101764961T>ACA386299311GNPTABc.1956A>T (p.Leu652Phe)
c.1875A>T (p.Leu625Phe)
c.1740A>T (p.Leu580Phe)
c.729A>T (p.Leu243Phe)
12g.101764961T>CCA481577010GNPTABc.1956A>G (p.Leu652=)
c.1875A>G (p.Leu625=)
c.1740A>G (p.Leu580=)
c.729A>G (p.Leu243=)
 dbSNP
12g.101764961T>GCA386299312GNPTABc.1956A>C (p.Leu652Phe)
c.1875A>C (p.Leu625Phe)
c.1740A>C (p.Leu580Phe)
c.729A>C (p.Leu243Phe)
12g.101764961T=CA2058955628GNPTABc.1956A= (p.Leu652=)
c.1875A= (p.Leu625=)
c.1740A= (p.Leu580=)
c.729A= (p.Leu243=)
12g.101764961dupCA916083333GNPTABc.1956dup (p.Val653SerfsTer2)
c.1875dup (p.Val626SerfsTer2)
c.1740dup (p.Val581SerfsTer2)
c.729dup (p.Val244SerfsTer2)
 ClinVar dbSNP
12g.101764962A=CA2058955629GNPTABc.1955T= (p.Leu652=)
c.1874T= (p.Leu625=)
c.1739T= (p.Leu580=)
c.728T= (p.Leu243=)
12g.101764962A>CCA386299313GNPTABc.1955T>G (p.Leu652Ter)
c.1874T>G (p.Leu625Ter)
c.1739T>G (p.Leu580Ter)
c.728T>G (p.Leu243Ter)
 ClinVar dbSNP gnomAD v4
12g.101764962A>GCA386299314GNPTABc.1955T>C (p.Leu652Ser)
c.1874T>C (p.Leu625Ser)
c.1739T>C (p.Leu580Ser)
c.728T>C (p.Leu243Ser)
12g.101764962A>TCA386299315GNPTABc.1955T>A (p.Leu652Ter)
c.1874T>A (p.Leu625Ter)
c.1739T>A (p.Leu580Ter)
c.728T>A (p.Leu243Ter)
12g.101764963_101764964delCA2580085686GNPTABc.1954_1955del (p.Leu652SerfsTer2)
c.1873_1874del (p.Leu625SerfsTer2)
c.1738_1739del (p.Leu580SerfsTer2)
c.727_728del (p.Leu243SerfsTer2)
 ClinVar
12g.101764963A>CCA386299316GNPTABc.1954T>G (p.Leu652Val)
c.1873T>G (p.Leu625Val)
c.1738T>G (p.Leu580Val)
c.727T>G (p.Leu243Val)
12g.101764963A>GCA481577011GNPTABc.1954T>C (p.Leu652=)
c.1873T>C (p.Leu625=)
c.1738T>C (p.Leu580=)
c.727T>C (p.Leu243=)
12g.101764963A>TCA386299317GNPTABc.1954T>A (p.Leu652Ile)
c.1873T>A (p.Leu625Ile)
c.1738T>A (p.Leu580Ile)
c.727T>A (p.Leu243Ile)
 gnomAD v4
12g.101764964A=CA2058955630GNPTABc.1953T= (p.Asn651=)
c.1872T= (p.Asn624=)
c.1737T= (p.Asn579=)
c.726T= (p.Asn242=)
12g.101764964A>CCA386299318GNPTABc.1953T>G (p.Asn651Lys)
c.1872T>G (p.Asn624Lys)
c.1737T>G (p.Asn579Lys)
c.726T>G (p.Asn242Lys)
12g.101764964A>GCA481577012GNPTABc.1953T>C (p.Asn651=)
c.1872T>C (p.Asn624=)
c.1737T>C (p.Asn579=)
c.726T>C (p.Asn242=)
 dbSNP gnomAD v2 gnomAD v4
12g.101764964A>TCA386299319GNPTABc.1953T>A (p.Asn651Lys)
c.1872T>A (p.Asn624Lys)
c.1737T>A (p.Asn579Lys)
c.726T>A (p.Asn242Lys)
12g.101764965T>ACA386299322GNPTABc.1952A>T (p.Asn651Ile)
c.1871A>T (p.Asn624Ile)
c.1736A>T (p.Asn579Ile)
c.725A>T (p.Asn242Ile)
12g.101764965T>CCA386299320GNPTABc.1952A>G (p.Asn651Ser)
c.1871A>G (p.Asn624Ser)
c.1736A>G (p.Asn579Ser)
c.725A>G (p.Asn242Ser)
12g.101764965T>GCA386299321GNPTABc.1952A>C (p.Asn651Thr)
c.1871A>C (p.Asn624Thr)
c.1736A>C (p.Asn579Thr)
c.725A>C (p.Asn242Thr)
12g.101764966T>ACA386299323GNPTABc.1951A>T (p.Asn651Tyr)
c.1870A>T (p.Asn624Tyr)
c.1735A>T (p.Asn579Tyr)
c.724A>T (p.Asn242Tyr)
 gnomAD v4
12g.101764966T>CCA386299324GNPTABc.1951A>G (p.Asn651Asp)
c.1870A>G (p.Asn624Asp)
c.1735A>G (p.Asn579Asp)
c.724A>G (p.Asn242Asp)
12g.101764966T>GCA386299325GNPTABc.1951A>C (p.Asn651His)
c.1870A>C (p.Asn624His)
c.1735A>C (p.Asn579His)
c.724A>C (p.Asn242His)
12g.101764967T>ACA386299326GNPTABc.1950A>T (p.Glu650Asp)
c.1869A>T (p.Glu623Asp)
c.1734A>T (p.Glu578Asp)
c.723A>T (p.Glu241Asp)
12g.101764967T>CCA481577013GNPTABc.1950A>G (p.Glu650=)
c.1869A>G (p.Glu623=)
c.1734A>G (p.Glu578=)
c.723A>G (p.Glu241=)
12g.101764967T>GCA386299327GNPTABc.1950A>C (p.Glu650Asp)
c.1869A>C (p.Glu623Asp)
c.1734A>C (p.Glu578Asp)
c.723A>C (p.Glu241Asp)
12g.101764968T>ACA386299328GNPTABc.1949A>T (p.Glu650Val)
c.1868A>T (p.Glu623Val)
c.1733A>T (p.Glu578Val)
c.722A>T (p.Glu241Val)
12g.101764968T>CCA6746500GNPTABc.1949A>G (p.Glu650Gly)
c.1868A>G (p.Glu623Gly)
c.1733A>G (p.Glu578Gly)
c.722A>G (p.Glu241Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764968T>GCA386299329GNPTABc.1949A>C (p.Glu650Ala)
c.1868A>C (p.Glu623Ala)
c.1733A>C (p.Glu578Ala)
c.722A>C (p.Glu241Ala)
12g.101764968T=CA2058955631GNPTABc.1949A= (p.Glu650=)
c.1868A= (p.Glu623=)
c.1733A= (p.Glu578=)
c.722A= (p.Glu241=)
12g.101764969C>ACA386299330GNPTABc.1948G>T (p.Glu650Ter)
c.1867G>T (p.Glu623Ter)
c.1732G>T (p.Glu578Ter)
c.721G>T (p.Glu241Ter)
12g.101764969C=CA2058955632GNPTABc.1948G= (p.Glu650=)
c.1867G= (p.Glu623=)
c.1732G= (p.Glu578=)
c.721G= (p.Glu241=)
12g.101764969C>GCA386299331GNPTABc.1948G>C (p.Glu650Gln)
c.1867G>C (p.Glu623Gln)
c.1732G>C (p.Glu578Gln)
c.721G>C (p.Glu241Gln)
12g.101764969C>TCA6746501GNPTABc.1948G>A (p.Glu650Lys)
c.1867G>A (p.Glu623Lys)
c.1732G>A (p.Glu578Lys)
c.721G>A (p.Glu241Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.101764970G>ACA6746502GNPTABc.1947C>T (p.Tyr649=)
c.1866C>T (p.Tyr622=)
c.1731C>T (p.Tyr577=)
c.720C>T (p.Tyr240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764970G>CCA386299333GNPTABc.1947C>G (p.Tyr649Ter)
c.1866C>G (p.Tyr622Ter)
c.1731C>G (p.Tyr577Ter)
c.720C>G (p.Tyr240Ter)
 dbSNP
12g.101764970G=CA2058955633GNPTABc.1947C= (p.Tyr649=)
c.1866C= (p.Tyr622=)
c.1731C= (p.Tyr577=)
c.720C= (p.Tyr240=)
12g.101764970G>TCA386299332GNPTABc.1947C>A (p.Tyr649Ter)
c.1866C>A (p.Tyr622Ter)
c.1731C>A (p.Tyr577Ter)
c.720C>A (p.Tyr240Ter)
12g.101764971T>ACA386299334GNPTABc.1946A>T (p.Tyr649Phe)
c.1865A>T (p.Tyr622Phe)
c.1730A>T (p.Tyr577Phe)
c.719A>T (p.Tyr240Phe)
12g.101764971T>CCA386299335GNPTABc.1946A>G (p.Tyr649Cys)
c.1865A>G (p.Tyr622Cys)
c.1730A>G (p.Tyr577Cys)
c.719A>G (p.Tyr240Cys)
12g.101764971T>GCA386299336GNPTABc.1946A>C (p.Tyr649Ser)
c.1865A>C (p.Tyr622Ser)
c.1730A>C (p.Tyr577Ser)
c.719A>C (p.Tyr240Ser)
12g.101764971dupCA2695217206GNPTABc.1946dup (p.Tyr649Ter)
c.1865dup (p.Tyr622Ter)
c.1730dup (p.Tyr577Ter)
c.719dup (p.Tyr240Ter)
 ClinVar
12g.101764972A=CA2058955634GNPTABc.1945T= (p.Tyr649=)
c.1864T= (p.Tyr622=)
c.1729T= (p.Tyr577=)
c.718T= (p.Tyr240=)
12g.101764972A>CCA386299337GNPTABc.1945T>G (p.Tyr649Asp)
c.1864T>G (p.Tyr622Asp)
c.1729T>G (p.Tyr577Asp)
c.718T>G (p.Tyr240Asp)
12g.101764972A>GCA6746503GNPTABc.1945T>C (p.Tyr649His)
c.1864T>C (p.Tyr622His)
c.1729T>C (p.Tyr577His)
c.718T>C (p.Tyr240His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764972A>TCA386299338GNPTABc.1945T>A (p.Tyr649Asn)
c.1864T>A (p.Tyr622Asn)
c.1729T>A (p.Tyr577Asn)
c.718T>A (p.Tyr240Asn)
12g.101764973A>CCA481577014GNPTABc.1944T>G (p.Gly648=)
c.1863T>G (p.Gly621=)
c.1728T>G (p.Gly576=)
c.717T>G (p.Gly239=)
12g.101764973A>GCA481577015GNPTABc.1944T>C (p.Gly648=)
c.1863T>C (p.Gly621=)
c.1728T>C (p.Gly576=)
c.717T>C (p.Gly239=)
12g.101764973A>TCA481577016GNPTABc.1944T>A (p.Gly648=)
c.1863T>A (p.Gly621=)
c.1728T>A (p.Gly576=)
c.717T>A (p.Gly239=)
12g.101764974C>ACA386299339GNPTABc.1943G>T (p.Gly648Val)
c.1862G>T (p.Gly621Val)
c.1727G>T (p.Gly576Val)
c.716G>T (p.Gly239Val)
12g.101764974C=CA2058955635GNPTABc.1943G= (p.Gly648=)
c.1862G= (p.Gly621=)
c.1727G= (p.Gly576=)
c.716G= (p.Gly239=)
12g.101764974C>GCA242456906GNPTABc.1943G>C (p.Gly648Ala)
c.1862G>C (p.Gly621Ala)
c.1727G>C (p.Gly576Ala)
c.716G>C (p.Gly239Ala)
 dbSNP gnomAD v4
12g.101764974C>TCA242456925GNPTABc.1943G>A (p.Gly648Asp)
c.1862G>A (p.Gly621Asp)
c.1727G>A (p.Gly576Asp)
c.716G>A (p.Gly239Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101764975C>ACA386299340GNPTABc.1942G>T (p.Gly648Cys)
c.1861G>T (p.Gly621Cys)
c.1726G>T (p.Gly576Cys)
c.715G>T (p.Gly239Cys)
12g.101764975C>GCA386299341GNPTABc.1942G>C (p.Gly648Arg)
c.1861G>C (p.Gly621Arg)
c.1726G>C (p.Gly576Arg)
c.715G>C (p.Gly239Arg)
12g.101764975C>TCA386299342GNPTABc.1942G>A (p.Gly648Ser)
c.1861G>A (p.Gly621Ser)
c.1726G>A (p.Gly576Ser)
c.715G>A (p.Gly239Ser)
12g.101764976C>ACA386299343GNPTABc.1941G>T (p.Lys647Asn)
c.1860G>T (p.Lys620Asn)
c.1725G>T (p.Lys575Asn)
c.714G>T (p.Lys238Asn)
12g.101764976C>GCA386299344GNPTABc.1941G>C (p.Lys647Asn)
c.1860G>C (p.Lys620Asn)
c.1725G>C (p.Lys575Asn)
c.714G>C (p.Lys238Asn)
12g.101764976C>TCA481577060GNPTABc.1941G>A (p.Lys647=)
c.1860G>A (p.Lys620=)
c.1725G>A (p.Lys575=)
c.714G>A (p.Lys238=)
12g.101764977T>ACA386299345GNPTABc.1940A>T (p.Lys647Met)
c.1859A>T (p.Lys620Met)
c.1724A>T (p.Lys575Met)
c.713A>T (p.Lys238Met)
12g.101764977T>CCA386299347GNPTABc.1940A>G (p.Lys647Arg)
c.1859A>G (p.Lys620Arg)
c.1724A>G (p.Lys575Arg)
c.713A>G (p.Lys238Arg)
12g.101764977T>GCA386299346GNPTABc.1940A>C (p.Lys647Thr)
c.1859A>C (p.Lys620Thr)
c.1724A>C (p.Lys575Thr)
c.713A>C (p.Lys238Thr)
12g.101764978T>ACA386299348GNPTABc.1939A>T (p.Lys647Ter)
c.1858A>T (p.Lys620Ter)
c.1723A>T (p.Lys575Ter)
c.712A>T (p.Lys238Ter)
12g.101764978T>CCA386299349GNPTABc.1939A>G (p.Lys647Glu)
c.1858A>G (p.Lys620Glu)
c.1723A>G (p.Lys575Glu)
c.712A>G (p.Lys238Glu)
12g.101764978T>GCA386299350GNPTABc.1939A>C (p.Lys647Gln)
c.1858A>C (p.Lys620Gln)
c.1723A>C (p.Lys575Gln)
c.712A>C (p.Lys238Gln)
12g.101764979C>ACA386299351GNPTABc.1938G>T (p.Gln646His)
c.1857G>T (p.Gln619His)
c.1722G>T (p.Gln574His)
c.711G>T (p.Gln237His)
 dbSNP gnomAD v4
12g.101764979C=CA2058955636GNPTABc.1938G= (p.Gln646=)
c.1857G= (p.Gln619=)
c.1722G= (p.Gln574=)
c.711G= (p.Gln237=)
12g.101764979C>GCA386299352GNPTABc.1938G>C (p.Gln646His)
c.1857G>C (p.Gln619His)
c.1722G>C (p.Gln574His)
c.711G>C (p.Gln237His)
12g.101764979C>TCA481577061GNPTABc.1938G>A (p.Gln646=)
c.1857G>A (p.Gln619=)
c.1722G>A (p.Gln574=)
c.711G>A (p.Gln237=)
 gnomAD v4 COSMIC
12g.101764980T>ACA386299353GNPTABc.1937A>T (p.Gln646Leu)
c.1856A>T (p.Gln619Leu)
c.1721A>T (p.Gln574Leu)
c.710A>T (p.Gln237Leu)
12g.101764980T>CCA386299354GNPTABc.1937A>G (p.Gln646Arg)
c.1856A>G (p.Gln619Arg)
c.1721A>G (p.Gln574Arg)
c.710A>G (p.Gln237Arg)
12g.101764980T>GCA386299355GNPTABc.1937A>C (p.Gln646Pro)
c.1856A>C (p.Gln619Pro)
c.1721A>C (p.Gln574Pro)
c.710A>C (p.Gln237Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.101764980T=CA2058955637GNPTABc.1937A= (p.Gln646=)
c.1856A= (p.Gln619=)
c.1721A= (p.Gln574=)
c.710A= (p.Gln237=)
12g.101764981G>ACA386299356GNPTABc.1936C>T (p.Gln646Ter)
c.1855C>T (p.Gln619Ter)
c.1720C>T (p.Gln574Ter)
c.709C>T (p.Gln237Ter)
12g.101764981G>CCA386299357GNPTABc.1936C>G (p.Gln646Glu)
c.1855C>G (p.Gln619Glu)
c.1720C>G (p.Gln574Glu)
c.709C>G (p.Gln237Glu)
12g.101764981G>TCA386299358GNPTABc.1936C>A (p.Gln646Lys)
c.1855C>A (p.Gln619Lys)
c.1720C>A (p.Gln574Lys)
c.709C>A (p.Gln237Lys)
12g.101764983dupCA2573147951GNPTABc.1936dup (p.Gln646ProfsTer9)
c.1855dup (p.Gln619ProfsTer9)
c.1720dup (p.Gln574ProfsTer9)
c.709dup (p.Gln237ProfsTer9)
 ClinVar dbSNP
12g.101764982G>ACA481577063GNPTABc.1935C>T (p.Ala645=)
c.1854C>T (p.Ala618=)
c.1719C>T (p.Ala573=)
c.708C>T (p.Ala236=)
12g.101764982G>CCA481577064GNPTABc.1935C>G (p.Ala645=)
c.1854C>G (p.Ala618=)
c.1719C>G (p.Ala573=)
c.708C>G (p.Ala236=)
12g.101764982G>TCA481577065GNPTABc.1935C>A (p.Ala645=)
c.1854C>A (p.Ala618=)
c.1719C>A (p.Ala573=)
c.708C>A (p.Ala236=)
12g.101764983G>ACA386299360GNPTABc.1934C>T (p.Ala645Val)
c.1853C>T (p.Ala618Val)
c.1718C>T (p.Ala573Val)
c.707C>T (p.Ala236Val)
12g.101764983G>CCA386299361GNPTABc.1934C>G (p.Ala645Gly)
c.1853C>G (p.Ala618Gly)
c.1718C>G (p.Ala573Gly)
c.707C>G (p.Ala236Gly)
 gnomAD v4
12g.101764983G>TCA386299359GNPTABc.1934C>A (p.Ala645Asp)
c.1853C>A (p.Ala618Asp)
c.1718C>A (p.Ala573Asp)
c.707C>A (p.Ala236Asp)
12g.101764984C>ACA242456926GNPTABc.1933G>T (p.Ala645Ser)
c.1852G>T (p.Ala618Ser)
c.1717G>T (p.Ala573Ser)
c.706G>T (p.Ala236Ser)
 dbSNP gnomAD v4
12g.101764984C=CA2058955638GNPTABc.1933G= (p.Ala645=)
c.1852G= (p.Ala618=)
c.1717G= (p.Ala573=)
c.706G= (p.Ala236=)
12g.101764984C>GCA386299363GNPTABc.1933G>C (p.Ala645Pro)
c.1852G>C (p.Ala618Pro)
c.1717G>C (p.Ala573Pro)
c.706G>C (p.Ala236Pro)
12g.101764984C>TCA386299362GNPTABc.1933G>A (p.Ala645Thr)
c.1852G>A (p.Ala618Thr)
c.1717G>A (p.Ala573Thr)
c.706G>A (p.Ala236Thr)
 gnomAD v4
12g.101764985T>ACA242456937GNPTABc.1932A>T (p.Thr644=)
c.1851A>T (p.Thr617=)
c.1716A>T (p.Thr572=)
c.705A>T (p.Thr235=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101764985T>CCA149254GNPTABc.1932A>G (p.Thr644=)
c.1851A>G (p.Thr617=)
c.1716A>G (p.Thr572=)
c.705A>G (p.Thr235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764985T>GCA481577068GNPTABc.1932A>C (p.Thr644=)
c.1851A>C (p.Thr617=)
c.1716A>C (p.Thr572=)
c.705A>C (p.Thr235=)
 ClinVar
12g.101764985T=CA2058955639GNPTABc.1932A= (p.Thr644=)
c.1851A= (p.Thr617=)
c.1716A= (p.Thr572=)
c.705A= (p.Thr235=)
12g.101764985_101764986delinsCACA201077GNPTABc.1931_1932delinsTG (p.Thr644Met)
c.1850_1851delinsTG (p.Thr617Met)
c.1715_1716delinsTG (p.Thr572Met)
c.704_705delinsTG (p.Thr235Met)
 ClinVar dbSNP
12g.101764985_101764986delinsTGCA2058955640GNPTABc.1931_1932delinsCA (p.Thr644=)
c.1850_1851delinsCA (p.Thr617=)
c.1715_1716delinsCA (p.Thr572=)
c.704_705delinsCA (p.Thr235=)
12g.101764986G>ACA201075GNPTABc.1931C>T (p.Thr644Ile)
c.1850C>T (p.Thr617Ile)
c.1715C>T (p.Thr572Ile)
c.704C>T (p.Thr235Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764986G>CCA386299364GNPTABc.1931C>G (p.Thr644Arg)
c.1850C>G (p.Thr617Arg)
c.1715C>G (p.Thr572Arg)
c.704C>G (p.Thr235Arg)
12g.101764986G=CA2058955641GNPTABc.1931C= (p.Thr644=)
c.1850C= (p.Thr617=)
c.1715C= (p.Thr572=)
c.704C= (p.Thr235=)
12g.101764986G>TCA386299365GNPTABc.1931C>A (p.Thr644Lys)
c.1850C>A (p.Thr617Lys)
c.1715C>A (p.Thr572Lys)
c.704C>A (p.Thr235Lys)
12g.101764987T>ACA386299366GNPTABc.1930A>T (p.Thr644Ser)
c.1849A>T (p.Thr617Ser)
c.1714A>T (p.Thr572Ser)
c.703A>T (p.Thr235Ser)
12g.101764987T>CCA6746504GNPTABc.1930A>G (p.Thr644Ala)
c.1849A>G (p.Thr617Ala)
c.1714A>G (p.Thr572Ala)
c.703A>G (p.Thr235Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764987T>GCA386299367GNPTABc.1930A>C (p.Thr644Pro)
c.1849A>C (p.Thr617Pro)
c.1714A>C (p.Thr572Pro)
c.703A>C (p.Thr235Pro)
12g.101764987T=CA2058955642GNPTABc.1930A= (p.Thr644=)
c.1849A= (p.Thr617=)
c.1714A= (p.Thr572=)
c.703A= (p.Thr235=)
12g.101764988A=CA2058955643GNPTABc.1929T= (p.Ser643=)
c.1848T= (p.Ser616=)
c.1713T= (p.Ser571=)
c.702T= (p.Ser234=)
12g.101764988A>CCA6746505GNPTABc.1929T>G (p.Ser643=)
c.1848T>G (p.Ser616=)
c.1713T>G (p.Ser571=)
c.702T>G (p.Ser234=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764988A>GCA481577071GNPTABc.1929T>C (p.Ser643=)
c.1848T>C (p.Ser616=)
c.1713T>C (p.Ser571=)
c.702T>C (p.Ser234=)
 gnomAD v4
12g.101764988A>TCA481577070GNPTABc.1929T>A (p.Ser643=)
c.1848T>A (p.Ser616=)
c.1713T>A (p.Ser571=)
c.702T>A (p.Ser234=)
12g.101764989G>ACA386299368GNPTABc.1928C>T (p.Ser643Phe)
c.1847C>T (p.Ser616Phe)
c.1712C>T (p.Ser571Phe)
c.701C>T (p.Ser234Phe)
12g.101764989G>CCA386299369GNPTABc.1928C>G (p.Ser643Cys)
c.1847C>G (p.Ser616Cys)
c.1712C>G (p.Ser571Cys)
c.701C>G (p.Ser234Cys)
12g.101764989G>TCA386299370GNPTABc.1928C>A (p.Ser643Tyr)
c.1847C>A (p.Ser616Tyr)
c.1712C>A (p.Ser571Tyr)
c.701C>A (p.Ser234Tyr)
12g.101764990A>CCA386299371GNPTABc.1927T>G (p.Ser643Ala)
c.1846T>G (p.Ser616Ala)
c.1711T>G (p.Ser571Ala)
c.700T>G (p.Ser234Ala)
12g.101764990A>GCA386299373GNPTABc.1927T>C (p.Ser643Pro)
c.1846T>C (p.Ser616Pro)
c.1711T>C (p.Ser571Pro)
c.700T>C (p.Ser234Pro)
12g.101764990A>TCA386299372GNPTABc.1927T>A (p.Ser643Thr)
c.1846T>A (p.Ser616Thr)
c.1711T>A (p.Ser571Thr)
c.700T>A (p.Ser234Thr)
12g.101764990_101764993delCA2531333833GNPTABc.1924_1927del (p.Asn642LeufsTer10)
c.1843_1846del (p.Asn615LeufsTer10)
c.1708_1711del (p.Asn570LeufsTer10)
c.697_700del (p.Asn233LeufsTer10)
12g.101764991A=CA2058955644GNPTABc.1926T= (p.Asn642=)
c.1845T= (p.Asn615=)
c.1710T= (p.Asn570=)
c.699T= (p.Asn233=)
12g.101764991A>CCA386299374GNPTABc.1926T>G (p.Asn642Lys)
c.1845T>G (p.Asn615Lys)
c.1710T>G (p.Asn570Lys)
c.699T>G (p.Asn233Lys)
12g.101764991A>GCA481577075GNPTABc.1926T>C (p.Asn642=)
c.1845T>C (p.Asn615=)
c.1710T>C (p.Asn570=)
c.699T>C (p.Asn233=)
12g.101764991A>TCA386299375GNPTABc.1926T>A (p.Asn642Lys)
c.1845T>A (p.Asn615Lys)
c.1710T>A (p.Asn570Lys)
c.699T>A (p.Asn233Lys)
 dbSNP
12g.101764992T>ACA386299376GNPTABc.1925A>T (p.Asn642Ile)
c.1844A>T (p.Asn615Ile)
c.1709A>T (p.Asn570Ile)
c.698A>T (p.Asn233Ile)
12g.101764992T>CCA386299377GNPTABc.1925A>G (p.Asn642Ser)
c.1844A>G (p.Asn615Ser)
c.1709A>G (p.Asn570Ser)
c.698A>G (p.Asn233Ser)
12g.101764992T>GCA386299378GNPTABc.1925A>C (p.Asn642Thr)
c.1844A>C (p.Asn615Thr)
c.1709A>C (p.Asn570Thr)
c.698A>C (p.Asn233Thr)
12g.101764993T>ACA386299379GNPTABc.1924A>T (p.Asn642Tyr)
c.1843A>T (p.Asn615Tyr)
c.1708A>T (p.Asn570Tyr)
c.697A>T (p.Asn233Tyr)
12g.101764993T>CCA386299380GNPTABc.1924A>G (p.Asn642Asp)
c.1843A>G (p.Asn615Asp)
c.1708A>G (p.Asn570Asp)
c.697A>G (p.Asn233Asp)
12g.101764993T>GCA386299381GNPTABc.1924A>C (p.Asn642His)
c.1843A>C (p.Asn615His)
c.1708A>C (p.Asn570His)
c.697A>C (p.Asn233His)
12g.101764994C>ACA481577077GNPTABc.1923G>T (p.Leu641=)
c.1842G>T (p.Leu614=)
c.1707G>T (p.Leu569=)
c.696G>T (p.Leu232=)
12g.101764994C>GCA481577079GNPTABc.1923G>C (p.Leu641=)
c.1842G>C (p.Leu614=)
c.1707G>C (p.Leu569=)
c.696G>C (p.Leu232=)
12g.101764994C>TCA481577078GNPTABc.1923G>A (p.Leu641=)
c.1842G>A (p.Leu614=)
c.1707G>A (p.Leu569=)
c.696G>A (p.Leu232=)
12g.101764994_101764995delCA2620447075GNPTABc.1922_1923del (p.Leu641GlnfsTer13)
c.1841_1842del (p.Leu614GlnfsTer13)
c.1706_1707del (p.Leu569GlnfsTer13)
c.695_696del (p.Leu232GlnfsTer13)
 gnomAD v4
12g.101764995A>CCA386299382GNPTABc.1922T>G (p.Leu641Arg)
c.1841T>G (p.Leu614Arg)
c.1706T>G (p.Leu569Arg)
c.695T>G (p.Leu232Arg)
12g.101764995A>GCA386299383GNPTABc.1922T>C (p.Leu641Pro)
c.1841T>C (p.Leu614Pro)
c.1706T>C (p.Leu569Pro)
c.695T>C (p.Leu232Pro)
12g.101764995A>TCA386299384GNPTABc.1922T>A (p.Leu641Gln)
c.1841T>A (p.Leu614Gln)
c.1706T>A (p.Leu569Gln)
c.695T>A (p.Leu232Gln)
12g.101764996G>ACA481577080GNPTABc.1921C>T (p.Leu641=)
c.1840C>T (p.Leu614=)
c.1705C>T (p.Leu569=)
c.694C>T (p.Leu232=)
12g.101764996G>CCA386299386GNPTABc.1921C>G (p.Leu641Val)
c.1840C>G (p.Leu614Val)
c.1705C>G (p.Leu569Val)
c.694C>G (p.Leu232Val)
12g.101764996G>TCA386299385GNPTABc.1921C>A (p.Leu641Met)
c.1840C>A (p.Leu614Met)
c.1705C>A (p.Leu569Met)
c.694C>A (p.Leu232Met)
12g.101764997T>ACA386299387GNPTABc.1920A>T (p.Lys640Asn)
c.1839A>T (p.Lys613Asn)
c.1704A>T (p.Lys568Asn)
c.693A>T (p.Lys231Asn)
12g.101764997T>CCA481577081GNPTABc.1920A>G (p.Lys640=)
c.1839A>G (p.Lys613=)
c.1704A>G (p.Lys568=)
c.693A>G (p.Lys231=)
12g.101764997T>GCA386299388GNPTABc.1920A>C (p.Lys640Asn)
c.1839A>C (p.Lys613Asn)
c.1704A>C (p.Lys568Asn)
c.693A>C (p.Lys231Asn)
12g.101764998T>ACA386299389GNPTABc.1919A>T (p.Lys640Ile)
c.1838A>T (p.Lys613Ile)
c.1703A>T (p.Lys568Ile)
c.692A>T (p.Lys231Ile)
12g.101764998T>CCA386299390GNPTABc.1919A>G (p.Lys640Arg)
c.1838A>G (p.Lys613Arg)
c.1703A>G (p.Lys568Arg)
c.692A>G (p.Lys231Arg)
12g.101764998T>GCA386299391GNPTABc.1919A>C (p.Lys640Thr)
c.1838A>C (p.Lys613Thr)
c.1703A>C (p.Lys568Thr)
c.692A>C (p.Lys231Thr)
12g.101764999T>ACA386299394GNPTABc.1918A>T (p.Lys640Ter)
c.1837A>T (p.Lys613Ter)
c.1702A>T (p.Lys568Ter)
c.691A>T (p.Lys231Ter)
12g.101764999T>CCA386299393GNPTABc.1918A>G (p.Lys640Glu)
c.1837A>G (p.Lys613Glu)
c.1702A>G (p.Lys568Glu)
c.691A>G (p.Lys231Glu)
12g.101764999T>GCA386299392GNPTABc.1918A>C (p.Lys640Gln)
c.1837A>C (p.Lys613Gln)
c.1702A>C (p.Lys568Gln)
c.691A>C (p.Lys231Gln)
12g.101765000T>ACA481577083GNPTABc.1917A>T (p.Pro639=)
c.1836A>T (p.Pro612=)
c.1701A>T (p.Pro567=)
c.690A>T (p.Pro230=)
12g.101765000T>CCA481577084GNPTABc.1917A>G (p.Pro639=)
c.1836A>G (p.Pro612=)
c.1701A>G (p.Pro567=)
c.690A>G (p.Pro230=)
 ClinVar dbSNP
12g.101765000T>GCA481577085GNPTABc.1917A>C (p.Pro639=)
c.1836A>C (p.Pro612=)
c.1701A>C (p.Pro567=)
c.690A>C (p.Pro230=)
 ClinVar dbSNP gnomAD v4
12g.101765000T=CA2058955645GNPTABc.1917A= (p.Pro639=)
c.1836A= (p.Pro612=)
c.1701A= (p.Pro567=)
c.690A= (p.Pro230=)
12g.101765001G>ACA386299395GNPTABc.1916C>T (p.Pro639Leu)
c.1835C>T (p.Pro612Leu)
c.1700C>T (p.Pro567Leu)
c.689C>T (p.Pro230Leu)
12g.101765001G>CCA386299396GNPTABc.1916C>G (p.Pro639Arg)
c.1835C>G (p.Pro612Arg)
c.1700C>G (p.Pro567Arg)
c.689C>G (p.Pro230Arg)
12g.101765001G>TCA386299397GNPTABc.1916C>A (p.Pro639Gln)
c.1835C>A (p.Pro612Gln)
c.1700C>A (p.Pro567Gln)
c.689C>A (p.Pro230Gln)
 gnomAD v4
12g.101765002dupCA682727632GNPTABc.1916dup (p.Leu641ThrfsTer14)
c.1835dup (p.Leu614ThrfsTer14)
c.1700dup (p.Leu569ThrfsTer14)
c.689dup (p.Leu232ThrfsTer14)
 dbSNP
12g.101765002G>ACA386299398GNPTABc.1915C>T (p.Pro639Ser)
c.1834C>T (p.Pro612Ser)
c.1699C>T (p.Pro567Ser)
c.688C>T (p.Pro230Ser)
12g.101765002G>CCA386299399GNPTABc.1915C>G (p.Pro639Ala)
c.1834C>G (p.Pro612Ala)
c.1699C>G (p.Pro567Ala)
c.688C>G (p.Pro230Ala)
12g.101765002G>TCA386299400GNPTABc.1915C>A (p.Pro639Thr)
c.1834C>A (p.Pro612Thr)
c.1699C>A (p.Pro567Thr)
c.688C>A (p.Pro230Thr)
 gnomAD v4
12g.101765003T>ACA481577089GNPTABc.1914A>T (p.Gly638=)
c.1833A>T (p.Gly611=)
c.1698A>T (p.Gly566=)
c.687A>T (p.Gly229=)
12g.101765003T>CCA481577090GNPTABc.1914A>G (p.Gly638=)
c.1833A>G (p.Gly611=)
c.1698A>G (p.Gly566=)
c.687A>G (p.Gly229=)
12g.101765003T>GCA481577091GNPTABc.1914A>C (p.Gly638=)
c.1833A>C (p.Gly611=)
c.1698A>C (p.Gly566=)
c.687A>C (p.Gly229=)
12g.101765004C>ACA386299403GNPTABc.1913G>T (p.Gly638Val)
c.1832G>T (p.Gly611Val)
c.1697G>T (p.Gly566Val)
c.686G>T (p.Gly229Val)
12g.101765004C>GCA386299401GNPTABc.1913G>C (p.Gly638Ala)
c.1832G>C (p.Gly611Ala)
c.1697G>C (p.Gly566Ala)
c.686G>C (p.Gly229Ala)
12g.101765004C>TCA386299402GNPTABc.1913G>A (p.Gly638Glu)
c.1832G>A (p.Gly611Glu)
c.1697G>A (p.Gly566Glu)
c.686G>A (p.Gly229Glu)
12g.101765005C>ACA386299404GNPTABc.1912G>T (p.Gly638Ter)
c.1831G>T (p.Gly611Ter)
c.1696G>T (p.Gly566Ter)
c.685G>T (p.Gly229Ter)
12g.101765005C=CA2058955646GNPTABc.1912G= (p.Gly638=)
c.1831G= (p.Gly611=)
c.1696G= (p.Gly566=)
c.685G= (p.Gly229=)
12g.101765005C>GCA386299405GNPTABc.1912G>C (p.Gly638Arg)
c.1831G>C (p.Gly611Arg)
c.1696G>C (p.Gly566Arg)
c.685G>C (p.Gly229Arg)
12g.101765005C>TCA6746506GNPTABc.1912G>A (p.Gly638Arg)
c.1831G>A (p.Gly611Arg)
c.1696G>A (p.Gly566Arg)
c.685G>A (p.Gly229Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101765006C>ACA386299406GNPTABc.1911G>T (p.Glu637Asp)
c.1830G>T (p.Glu610Asp)
c.1695G>T (p.Glu565Asp)
c.684G>T (p.Glu228Asp)
12g.101765006C>GCA386299407GNPTABc.1911G>C (p.Glu637Asp)
c.1830G>C (p.Glu610Asp)
c.1695G>C (p.Glu565Asp)
c.684G>C (p.Glu228Asp)
12g.101765006C>TCA481577093GNPTABc.1911G>A (p.Glu637=)
c.1830G>A (p.Glu610=)
c.1695G>A (p.Glu565=)
c.684G>A (p.Glu228=)
 gnomAD v4
12g.101765007T>ACA386299408GNPTABc.1910A>T (p.Glu637Val)
c.1829A>T (p.Glu610Val)
c.1694A>T (p.Glu565Val)
c.683A>T (p.Glu228Val)
12g.101765007T>CCA386299409GNPTABc.1910A>G (p.Glu637Gly)
c.1829A>G (p.Glu610Gly)
c.1694A>G (p.Glu565Gly)
c.683A>G (p.Glu228Gly)
 gnomAD v4
12g.101765007T>GCA386299410GNPTABc.1910A>C (p.Glu637Ala)
c.1829A>C (p.Glu610Ala)
c.1694A>C (p.Glu565Ala)
c.683A>C (p.Glu228Ala)
12g.101765008C>ACA386299411GNPTABc.1909G>T (p.Glu637Ter)
c.1828G>T (p.Glu610Ter)
c.1693G>T (p.Glu565Ter)
c.682G>T (p.Glu228Ter)
12g.101765008C>GCA386299412GNPTABc.1909G>C (p.Glu637Gln)
c.1828G>C (p.Glu610Gln)
c.1693G>C (p.Glu565Gln)
c.682G>C (p.Glu228Gln)
12g.101765008C>TCA386299413GNPTABc.1909G>A (p.Glu637Lys)
c.1828G>A (p.Glu610Lys)
c.1693G>A (p.Glu565Lys)
c.682G>A (p.Glu228Lys)
12g.101765008_101765012delinsCCCTTCA2058955647GNPTABc.1905_1909delinsAAGGG (p.Thr635=)
c.1824_1828delinsAAGGG (p.Thr608=)
c.1689_1693delinsAAGGG (p.Thr563=)
c.678_682delinsAAGGG (p.Thr226=)
12g.101765009C>ACA386299414GNPTABc.1908G>T (p.Arg636Ser)
c.1827G>T (p.Arg609Ser)
c.1692G>T (p.Arg564Ser)
c.681G>T (p.Arg227Ser)
12g.101765009C>GCA386299415GNPTABc.1908G>C (p.Arg636Ser)
c.1827G>C (p.Arg609Ser)
c.1692G>C (p.Arg564Ser)
c.681G>C (p.Arg227Ser)
12g.101765009C>TCA481577094GNPTABc.1908G>A (p.Arg636=)
c.1827G>A (p.Arg609=)
c.1692G>A (p.Arg564=)
c.681G>A (p.Arg227=)
 gnomAD v4
12g.101765009_101765012delCA501044GNPTABc.1905_1908del (p.Glu637AspfsTer4)
c.1824_1827del (p.Glu610AspfsTer4)
c.1689_1692del (p.Glu565AspfsTer4)
c.678_681del (p.Glu228AspfsTer4)
 ClinVar dbSNP gnomAD v2
12g.101765010C>ACA386299418GNPTABc.1907G>T (p.Arg636Met)
c.1826G>T (p.Arg609Met)
c.1691G>T (p.Arg564Met)
c.680G>T (p.Arg227Met)
12g.101765010C>GCA386299416GNPTABc.1907G>C (p.Arg636Thr)
c.1826G>C (p.Arg609Thr)
c.1691G>C (p.Arg564Thr)
c.680G>C (p.Arg227Thr)
12g.101765010C>TCA386299417GNPTABc.1907G>A (p.Arg636Lys)
c.1826G>A (p.Arg609Lys)
c.1691G>A (p.Arg564Lys)
c.680G>A (p.Arg227Lys)
 gnomAD v4
12g.101765010_101765011delinsCTCA2058955648GNPTABc.1906_1907delinsAG (p.Arg636=)
c.1825_1826delinsAG (p.Arg609=)
c.1690_1691delinsAG (p.Arg564=)
c.679_680delinsAG (p.Arg227=)
12g.101765011T>ACA386299419GNPTABc.1906A>T (p.Arg636Trp)
c.1825A>T (p.Arg609Trp)
c.1690A>T (p.Arg564Trp)
c.679A>T (p.Arg227Trp)
12g.101765011T>CCA386299420GNPTABc.1906A>G (p.Arg636Gly)
c.1825A>G (p.Arg609Gly)
c.1690A>G (p.Arg564Gly)
c.679A>G (p.Arg227Gly)
 gnomAD v4
12g.101765011T>GCA481577095GNPTABc.1906A>C (p.Arg636=)
c.1825A>C (p.Arg609=)
c.1690A>C (p.Arg564=)
c.679A>C (p.Arg227=)
12g.101765012dupCA274993GNPTABc.1906dup (p.Arg636LysfsTer19)
c.1825dup (p.Arg609LysfsTer19)
c.1690dup (p.Arg564LysfsTer19)
c.679dup (p.Arg227LysfsTer19)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101765012delCA607597832GNPTABc.1906del (p.Arg636GlyfsTer6)
c.1825del (p.Arg609GlyfsTer6)
c.1690del (p.Arg564GlyfsTer6)
c.679del (p.Arg227GlyfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101765012T>ACA481577098GNPTABc.1905A>T (p.Thr635=)
c.1824A>T (p.Thr608=)
c.1689A>T (p.Thr563=)
c.678A>T (p.Thr226=)
12g.101765012T>CCA6746507GNPTABc.1905A>G (p.Thr635=)
c.1824A>G (p.Thr608=)
c.1689A>G (p.Thr563=)
c.678A>G (p.Thr226=)
 dbSNP ExAC gnomAD v2
12g.101765012T>GCA481577096GNPTABc.1905A>C (p.Thr635=)
c.1824A>C (p.Thr608=)
c.1689A>C (p.Thr563=)
c.678A>C (p.Thr226=)
 dbSNP
12g.101765012T=CA2058955649GNPTABc.1905A= (p.Thr635=)
c.1824A= (p.Thr608=)
c.1689A= (p.Thr563=)
c.678A= (p.Thr226=)
12g.101765013G>ACA386299421GNPTABc.1904C>T (p.Thr635Ile)
c.1823C>T (p.Thr608Ile)
c.1688C>T (p.Thr563Ile)
c.677C>T (p.Thr226Ile)
12g.101765013G>CCA386299422GNPTABc.1904C>G (p.Thr635Arg)
c.1823C>G (p.Thr608Arg)
c.1688C>G (p.Thr563Arg)
c.677C>G (p.Thr226Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.101765013G=CA2058955650GNPTABc.1904C= (p.Thr635=)
c.1823C= (p.Thr608=)
c.1688C= (p.Thr563=)
c.677C= (p.Thr226=)
12g.101765013G>TCA386299423GNPTABc.1904C>A (p.Thr635Lys)
c.1823C>A (p.Thr608Lys)
c.1688C>A (p.Thr563Lys)
c.677C>A (p.Thr226Lys)
 gnomAD v4
12g.101765013_101765014delinsGTCA2058955651GNPTABc.1903_1904delinsAC (p.Thr635=)
c.1822_1823delinsAC (p.Thr608=)
c.1687_1688delinsAC (p.Thr563=)
c.676_677delinsAC (p.Thr226=)
12g.101765014delCA2058955652GNPTABc.1903del (p.Thr635GlnfsTer7)
c.1822del (p.Thr608GlnfsTer7)
c.1687del (p.Thr563GlnfsTer7)
c.676del (p.Thr226GlnfsTer7)
 dbSNP
12g.101765014T>ACA386299425GNPTABc.1903A>T (p.Thr635Ser)
c.1822A>T (p.Thr608Ser)
c.1687A>T (p.Thr563Ser)
c.676A>T (p.Thr226Ser)
12g.101765014T>CCA386299424GNPTABc.1903A>G (p.Thr635Ala)
c.1822A>G (p.Thr608Ala)
c.1687A>G (p.Thr563Ala)
c.676A>G (p.Thr226Ala)
12g.101765014T>GCA6746508GNPTABc.1903A>C (p.Thr635Pro)
c.1822A>C (p.Thr608Pro)
c.1687A>C (p.Thr563Pro)
c.676A>C (p.Thr226Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101765014T=CA2058955653GNPTABc.1903A= (p.Thr635=)
c.1822A= (p.Thr608=)
c.1687A= (p.Thr563=)
c.676A= (p.Thr226=)
12g.101765015G>ACA481577102GNPTABc.1902C>T (p.Asp634=)
c.1821C>T (p.Asp607=)
c.1686C>T (p.Asp562=)
c.675C>T (p.Asp225=)
12g.101765015G>CCA386299426GNPTABc.1902C>G (p.Asp634Glu)
c.1821C>G (p.Asp607Glu)
c.1686C>G (p.Asp562Glu)
c.675C>G (p.Asp225Glu)
12g.101765015G>TCA386299427GNPTABc.1902C>A (p.Asp634Glu)
c.1821C>A (p.Asp607Glu)
c.1686C>A (p.Asp562Glu)
c.675C>A (p.Asp225Glu)
12g.101765016T>ACA386299428GNPTABc.1901A>T (p.Asp634Val)
c.1820A>T (p.Asp607Val)
c.1685A>T (p.Asp562Val)
c.674A>T (p.Asp225Val)
12g.101765016T>CCA386299429GNPTABc.1901A>G (p.Asp634Gly)
c.1820A>G (p.Asp607Gly)
c.1685A>G (p.Asp562Gly)
c.674A>G (p.Asp225Gly)
12g.101765016T>GCA386299430GNPTABc.1901A>C (p.Asp634Ala)
c.1820A>C (p.Asp607Ala)
c.1685A>C (p.Asp562Ala)
c.674A>C (p.Asp225Ala)
12g.101765017C>ACA386299431GNPTABc.1900G>T (p.Asp634Tyr)
c.1819G>T (p.Asp607Tyr)
c.1684G>T (p.Asp562Tyr)
c.673G>T (p.Asp225Tyr)
12g.101765017C>GCA386299435GNPTABc.1900G>C (p.Asp634His)
c.1819G>C (p.Asp607His)
c.1684G>C (p.Asp562His)
c.673G>C (p.Asp225His)
12g.101765017C>TCA386299433GNPTABc.1900G>A (p.Asp634Asn)
c.1819G>A (p.Asp607Asn)
c.1684G>A (p.Asp562Asn)
c.673G>A (p.Asp225Asn)
 gnomAD v4
12g.101765018C>ACA481577104GNPTABc.1899G>T (p.Val633=)
c.1818G>T (p.Val606=)
c.1683G>T (p.Val561=)
c.672G>T (p.Val224=)
12g.101765018C=CA2058955654GNPTABc.1899G= (p.Val633=)
c.1818G= (p.Val606=)
c.1683G= (p.Val561=)
c.672G= (p.Val224=)
12g.101765018C>GCA481577105GNPTABc.1899G>C (p.Val633=)
c.1818G>C (p.Val606=)
c.1683G>C (p.Val561=)
c.672G>C (p.Val224=)
12g.101765018C>TCA6746509GNPTABc.1899G>A (p.Val633=)
c.1818G>A (p.Val606=)
c.1683G>A (p.Val561=)
c.672G>A (p.Val224=)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched