Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101764824A>CCA386299008GNPTABc.2093T>G (p.Val698Gly)
c.2012T>G (p.Val671Gly)
c.1877T>G (p.Val626Gly)
c.866T>G (p.Val289Gly)
12g.101764824A>GCA386299009GNPTABc.2093T>C (p.Val698Ala)
c.2012T>C (p.Val671Ala)
c.1877T>C (p.Val626Ala)
c.866T>C (p.Val289Ala)
 COSMIC
12g.101764824A>TCA386299010GNPTABc.2093T>A (p.Val698Glu)
c.2012T>A (p.Val671Glu)
c.1877T>A (p.Val626Glu)
c.866T>A (p.Val289Glu)
12g.101764825C>ACA386299011GNPTABc.2092G>T (p.Val698Leu)
c.2011G>T (p.Val671Leu)
c.1876G>T (p.Val626Leu)
c.865G>T (p.Val289Leu)
12g.101764825C>GCA386299012GNPTABc.2092G>C (p.Val698Leu)
c.2011G>C (p.Val671Leu)
c.1876G>C (p.Val626Leu)
c.865G>C (p.Val289Leu)
12g.101764825C>TCA386299013GNPTABc.2092G>A (p.Val698Ile)
c.2011G>A (p.Val671Ile)
c.1876G>A (p.Val626Ile)
c.865G>A (p.Val289Ile)
12g.101764826C>ACA481577225GNPTABc.2091G>T (p.Leu697=)
c.2010G>T (p.Leu670=)
c.1875G>T (p.Leu625=)
c.864G>T (p.Leu288=)
12g.101764826C>GCA481577226GNPTABc.2091G>C (p.Leu697=)
c.2010G>C (p.Leu670=)
c.1875G>C (p.Leu625=)
c.864G>C (p.Leu288=)
12g.101764826C>TCA481577227GNPTABc.2091G>A (p.Leu697=)
c.2010G>A (p.Leu670=)
c.1875G>A (p.Leu625=)
c.864G>A (p.Leu288=)
12g.101764827A=CA2058955563GNPTABc.2090T= (p.Leu697=)
c.2009T= (p.Leu670=)
c.1874T= (p.Leu625=)
c.863T= (p.Leu288=)
12g.101764827A>CCA386299014GNPTABc.2090T>G (p.Leu697Arg)
c.2009T>G (p.Leu670Arg)
c.1874T>G (p.Leu625Arg)
c.863T>G (p.Leu288Arg)
 dbSNP
12g.101764827A>GCA386299015GNPTABc.2090T>C (p.Leu697Pro)
c.2009T>C (p.Leu670Pro)
c.1874T>C (p.Leu625Pro)
c.863T>C (p.Leu288Pro)
12g.101764827A>TCA386299016GNPTABc.2090T>A (p.Leu697Gln)
c.2009T>A (p.Leu670Gln)
c.1874T>A (p.Leu625Gln)
c.863T>A (p.Leu288Gln)
 gnomAD v4
12g.101764828G>ACA481577228GNPTABc.2089C>T (p.Leu697=)
c.2008C>T (p.Leu670=)
c.1873C>T (p.Leu625=)
c.862C>T (p.Leu288=)
12g.101764828G>CCA386299018GNPTABc.2089C>G (p.Leu697Val)
c.2008C>G (p.Leu670Val)
c.1873C>G (p.Leu625Val)
c.862C>G (p.Leu288Val)
12g.101764828G=CA2058955564GNPTABc.2089C= (p.Leu697=)
c.2008C= (p.Leu670=)
c.1873C= (p.Leu625=)
c.862C= (p.Leu288=)
12g.101764828G>TCA386299017GNPTABc.2089C>A (p.Leu697Met)
c.2008C>A (p.Leu670Met)
c.1873C>A (p.Leu625Met)
c.862C>A (p.Leu288Met)
 dbSNP gnomAD v2 gnomAD v4
12g.101764831dupCA343365GNPTABc.2089dup (p.Leu697ProfsTer?)
c.2008dup (p.Leu670ProfsTer?)
c.1873dup (p.Leu625ProfsTer?)
c.862dup (p.Leu288ProfsTer?)
 ClinVar dbSNP
12g.101764831delCA2620446503GNPTABc.2089del (p.Leu697TrpfsTer2)
c.2008del (p.Leu670TrpfsTer2)
c.1873del (p.Leu625TrpfsTer2)
c.862del (p.Leu288TrpfsTer2)
 gnomAD v4
12g.101764829G>ACA481577230GNPTABc.2088C>T (p.Pro696=)
c.2007C>T (p.Pro669=)
c.1872C>T (p.Pro624=)
c.861C>T (p.Pro287=)
 ClinVar
12g.101764829G>CCA481577231GNPTABc.2088C>G (p.Pro696=)
c.2007C>G (p.Pro669=)
c.1872C>G (p.Pro624=)
c.861C>G (p.Pro287=)
12g.101764829G>TCA481577229GNPTABc.2088C>A (p.Pro696=)
c.2007C>A (p.Pro669=)
c.1872C>A (p.Pro624=)
c.861C>A (p.Pro287=)
 gnomAD v4
12g.101764830G>ACA386299021GNPTABc.2087C>T (p.Pro696Leu)
c.2006C>T (p.Pro669Leu)
c.1871C>T (p.Pro624Leu)
c.860C>T (p.Pro287Leu)
 ClinVar dbSNP
12g.101764830G>CCA386299019GNPTABc.2087C>G (p.Pro696Arg)
c.2006C>G (p.Pro669Arg)
c.1871C>G (p.Pro624Arg)
c.860C>G (p.Pro287Arg)
 dbSNP gnomAD v4
12g.101764830G=CA2058955565GNPTABc.2087C= (p.Pro696=)
c.2006C= (p.Pro669=)
c.1871C= (p.Pro624=)
c.860C= (p.Pro287=)
12g.101764830G>TCA386299020GNPTABc.2087C>A (p.Pro696His)
c.2006C>A (p.Pro669His)
c.1871C>A (p.Pro624His)
c.860C>A (p.Pro287His)
12g.101764831G>ACA386299022GNPTABc.2086C>T (p.Pro696Ser)
c.2005C>T (p.Pro669Ser)
c.1870C>T (p.Pro624Ser)
c.859C>T (p.Pro287Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.101764831G>CCA386299023GNPTABc.2086C>G (p.Pro696Ala)
c.2005C>G (p.Pro669Ala)
c.1870C>G (p.Pro624Ala)
c.859C>G (p.Pro287Ala)
12g.101764831G=CA2058955566GNPTABc.2086C= (p.Pro696=)
c.2005C= (p.Pro669=)
c.1870C= (p.Pro624=)
c.859C= (p.Pro287=)
12g.101764831G>TCA386299024GNPTABc.2086C>A (p.Pro696Thr)
c.2005C>A (p.Pro669Thr)
c.1870C>A (p.Pro624Thr)
c.859C>A (p.Pro287Thr)
12g.101764832A>CCA386299025GNPTABc.2085T>G (p.Ile695Met)
c.2004T>G (p.Ile668Met)
c.1869T>G (p.Ile623Met)
c.858T>G (p.Ile286Met)
12g.101764832A>GCA481577232GNPTABc.2085T>C (p.Ile695=)
c.2004T>C (p.Ile668=)
c.1869T>C (p.Ile623=)
c.858T>C (p.Ile286=)
12g.101764832A>TCA481577233GNPTABc.2085T>A (p.Ile695=)
c.2004T>A (p.Ile668=)
c.1869T>A (p.Ile623=)
c.858T>A (p.Ile286=)
12g.101764833A>CCA386299028GNPTABc.2084T>G (p.Ile695Ser)
c.2003T>G (p.Ile668Ser)
c.1868T>G (p.Ile623Ser)
c.857T>G (p.Ile286Ser)
12g.101764833A>GCA386299026GNPTABc.2084T>C (p.Ile695Thr)
c.2003T>C (p.Ile668Thr)
c.1868T>C (p.Ile623Thr)
c.857T>C (p.Ile286Thr)
12g.101764833A>TCA386299027GNPTABc.2084T>A (p.Ile695Asn)
c.2003T>A (p.Ile668Asn)
c.1868T>A (p.Ile623Asn)
c.857T>A (p.Ile286Asn)
12g.101764834T>ACA386299029GNPTABc.2083A>T (p.Ile695Phe)
c.2002A>T (p.Ile668Phe)
c.1867A>T (p.Ile623Phe)
c.856A>T (p.Ile286Phe)
12g.101764834T>CCA386299030GNPTABc.2083A>G (p.Ile695Val)
c.2002A>G (p.Ile668Val)
c.1867A>G (p.Ile623Val)
c.856A>G (p.Ile286Val)
 gnomAD v4
12g.101764834T>GCA386299031GNPTABc.2083A>C (p.Ile695Leu)
c.2002A>C (p.Ile668Leu)
c.1867A>C (p.Ile623Leu)
c.856A>C (p.Ile286Leu)
12g.101764835T>ACA386299032GNPTABc.2082A>T (p.Lys694Asn)
c.2001A>T (p.Lys667Asn)
c.1866A>T (p.Lys622Asn)
c.855A>T (p.Lys285Asn)
12g.101764835T>CCA481577234GNPTABc.2082A>G (p.Lys694=)
c.2001A>G (p.Lys667=)
c.1866A>G (p.Lys622=)
c.855A>G (p.Lys285=)
 ClinVar COSMIC
12g.101764835T>GCA386299033GNPTABc.2082A>C (p.Lys694Asn)
c.2001A>C (p.Lys667Asn)
c.1866A>C (p.Lys622Asn)
c.855A>C (p.Lys285Asn)
12g.101764836T>ACA386299036GNPTABc.2081A>T (p.Lys694Ile)
c.2000A>T (p.Lys667Ile)
c.1865A>T (p.Lys622Ile)
c.854A>T (p.Lys285Ile)
12g.101764836T>CCA386299034GNPTABc.2081A>G (p.Lys694Arg)
c.2000A>G (p.Lys667Arg)
c.1865A>G (p.Lys622Arg)
c.854A>G (p.Lys285Arg)
12g.101764836T>GCA386299035GNPTABc.2081A>C (p.Lys694Thr)
c.2000A>C (p.Lys667Thr)
c.1865A>C (p.Lys622Thr)
c.854A>C (p.Lys285Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.101764836T=CA2058955567GNPTABc.2081A= (p.Lys694=)
c.2000A= (p.Lys667=)
c.1865A= (p.Lys622=)
c.854A= (p.Lys285=)
12g.101764837T>ACA386299037GNPTABc.2080A>T (p.Lys694Ter)
c.1999A>T (p.Lys667Ter)
c.1864A>T (p.Lys622Ter)
c.853A>T (p.Lys285Ter)
12g.101764837T>CCA386299038GNPTABc.2080A>G (p.Lys694Glu)
c.1999A>G (p.Lys667Glu)
c.1864A>G (p.Lys622Glu)
c.853A>G (p.Lys285Glu)
12g.101764837T>GCA386299039GNPTABc.2080A>C (p.Lys694Gln)
c.1999A>C (p.Lys667Gln)
c.1864A>C (p.Lys622Gln)
c.853A>C (p.Lys285Gln)
12g.101764838C>ACA481577235GNPTABc.2079G>T (p.Val693=)
c.1998G>T (p.Val666=)
c.1863G>T (p.Val621=)
c.852G>T (p.Val284=)
12g.101764838C=CA2058955568GNPTABc.2079G= (p.Val693=)
c.1998G= (p.Val666=)
c.1863G= (p.Val621=)
c.852G= (p.Val284=)
12g.101764838C>GCA481577236GNPTABc.2079G>C (p.Val693=)
c.1998G>C (p.Val666=)
c.1863G>C (p.Val621=)
c.852G>C (p.Val284=)
12g.101764838C>TCA6746478GNPTABc.2079G>A (p.Val693=)
c.1998G>A (p.Val666=)
c.1863G>A (p.Val621=)
c.852G>A (p.Val284=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764839A>CCA386299040GNPTABc.2078T>G (p.Val693Gly)
c.1997T>G (p.Val666Gly)
c.1862T>G (p.Val621Gly)
c.851T>G (p.Val284Gly)
12g.101764839A>GCA386299041GNPTABc.2078T>C (p.Val693Ala)
c.1997T>C (p.Val666Ala)
c.1862T>C (p.Val621Ala)
c.851T>C (p.Val284Ala)
12g.101764839A>TCA386299042GNPTABc.2078T>A (p.Val693Glu)
c.1997T>A (p.Val666Glu)
c.1862T>A (p.Val621Glu)
c.851T>A (p.Val284Glu)
12g.101764840C>ACA386299043GNPTABc.2077G>T (p.Val693Leu)
c.1996G>T (p.Val666Leu)
c.1861G>T (p.Val621Leu)
c.850G>T (p.Val284Leu)
12g.101764840C>GCA386299044GNPTABc.2077G>C (p.Val693Leu)
c.1996G>C (p.Val666Leu)
c.1861G>C (p.Val621Leu)
c.850G>C (p.Val284Leu)
12g.101764840C>TCA386299045GNPTABc.2077G>A (p.Val693Met)
c.1996G>A (p.Val666Met)
c.1861G>A (p.Val621Met)
c.850G>A (p.Val284Met)
12g.101764841C>ACA386299046GNPTABc.2076G>T (p.Glu692Asp)
c.1995G>T (p.Glu665Asp)
c.1860G>T (p.Glu620Asp)
c.849G>T (p.Glu283Asp)
12g.101764841C>GCA386299047GNPTABc.2076G>C (p.Glu692Asp)
c.1995G>C (p.Glu665Asp)
c.1860G>C (p.Glu620Asp)
c.849G>C (p.Glu283Asp)
12g.101764841C>TCA481577237GNPTABc.2076G>A (p.Glu692=)
c.1995G>A (p.Glu665=)
c.1860G>A (p.Glu620=)
c.849G>A (p.Glu283=)
12g.101764842T>ACA6746479GNPTABc.2075A>T (p.Glu692Val)
c.1994A>T (p.Glu665Val)
c.1859A>T (p.Glu620Val)
c.848A>T (p.Glu283Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764842T>CCA386299049GNPTABc.2075A>G (p.Glu692Gly)
c.1994A>G (p.Glu665Gly)
c.1859A>G (p.Glu620Gly)
c.848A>G (p.Glu283Gly)
12g.101764842T>GCA386299048GNPTABc.2075A>C (p.Glu692Ala)
c.1994A>C (p.Glu665Ala)
c.1859A>C (p.Glu620Ala)
c.848A>C (p.Glu283Ala)
12g.101764842T=CA2058955569GNPTABc.2075A= (p.Glu692=)
c.1994A= (p.Glu665=)
c.1859A= (p.Glu620=)
c.848A= (p.Glu283=)
12g.101764843C>ACA386299050GNPTABc.2074G>T (p.Glu692Ter)
c.1993G>T (p.Glu665Ter)
c.1858G>T (p.Glu620Ter)
c.847G>T (p.Glu283Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.101764843C=CA2058955570GNPTABc.2074G= (p.Glu692=)
c.1993G= (p.Glu665=)
c.1858G= (p.Glu620=)
c.847G= (p.Glu283=)
12g.101764843C>GCA386299051GNPTABc.2074G>C (p.Glu692Gln)
c.1993G>C (p.Glu665Gln)
c.1858G>C (p.Glu620Gln)
c.847G>C (p.Glu283Gln)
12g.101764843C>TCA386299052GNPTABc.2074G>A (p.Glu692Lys)
c.1993G>A (p.Glu665Lys)
c.1858G>A (p.Glu620Lys)
c.847G>A (p.Glu283Lys)
12g.101764844T>ACA386299053GNPTABc.2073A>T (p.Glu691Asp)
c.1992A>T (p.Glu664Asp)
c.1857A>T (p.Glu619Asp)
c.846A>T (p.Glu282Asp)
12g.101764844T>CCA481577238GNPTABc.2073A>G (p.Glu691=)
c.1992A>G (p.Glu664=)
c.1857A>G (p.Glu619=)
c.846A>G (p.Glu282=)
 gnomAD v4
12g.101764844T>GCA386299054GNPTABc.2073A>C (p.Glu691Asp)
c.1992A>C (p.Glu664Asp)
c.1857A>C (p.Glu619Asp)
c.846A>C (p.Glu282Asp)
12g.101764844T=CA2058955571GNPTABc.2073A= (p.Glu691=)
c.1992A= (p.Glu664=)
c.1857A= (p.Glu619=)
c.846A= (p.Glu282=)
12g.101764844_101764845insCCA242456757GNPTABc.2072_2073insG (p.Glu692ArgfsTer?)
c.1991_1992insG (p.Glu665ArgfsTer?)
c.1856_1857insG (p.Glu620ArgfsTer?)
c.845_846insG (p.Glu283ArgfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101764845T>ACA386299055GNPTABc.2072A>T (p.Glu691Val)
c.1991A>T (p.Glu664Val)
c.1856A>T (p.Glu619Val)
c.845A>T (p.Glu282Val)
12g.101764845T>CCA386299056GNPTABc.2072A>G (p.Glu691Gly)
c.1991A>G (p.Glu664Gly)
c.1856A>G (p.Glu619Gly)
c.845A>G (p.Glu282Gly)
12g.101764845T>GCA386299057GNPTABc.2072A>C (p.Glu691Ala)
c.1991A>C (p.Glu664Ala)
c.1856A>C (p.Glu619Ala)
c.845A>C (p.Glu282Ala)
12g.101764846C>ACA386299058GNPTABc.2071G>T (p.Glu691Ter)
c.1990G>T (p.Glu664Ter)
c.1855G>T (p.Glu619Ter)
c.844G>T (p.Glu282Ter)
12g.101764846C=CA2058955572GNPTABc.2071G= (p.Glu691=)
c.1990G= (p.Glu664=)
c.1855G= (p.Glu619=)
c.844G= (p.Glu282=)
12g.101764846C>GCA386299059GNPTABc.2071G>C (p.Glu691Gln)
c.1990G>C (p.Glu664Gln)
c.1855G>C (p.Glu619Gln)
c.844G>C (p.Glu282Gln)
12g.101764846C>TCA386299060GNPTABc.2071G>A (p.Glu691Lys)
c.1990G>A (p.Glu664Lys)
c.1855G>A (p.Glu619Lys)
c.844G>A (p.Glu282Lys)
 ClinVar dbSNP gnomAD v4
12g.101764847C>ACA386299061GNPTABc.2070G>T (p.Gln690His)
c.1989G>T (p.Gln663His)
c.1854G>T (p.Gln618His)
c.843G>T (p.Gln281His)
 COSMIC
12g.101764847C=CA2058955573GNPTABc.2070G= (p.Gln690=)
c.1989G= (p.Gln663=)
c.1854G= (p.Gln618=)
c.843G= (p.Gln281=)
12g.101764847C>GCA386299062GNPTABc.2070G>C (p.Gln690His)
c.1989G>C (p.Gln663His)
c.1854G>C (p.Gln618His)
c.843G>C (p.Gln281His)
 dbSNP gnomAD v2 gnomAD v4
12g.101764847C>TCA481577239GNPTABc.2070G>A (p.Gln690=)
c.1989G>A (p.Gln663=)
c.1854G>A (p.Gln618=)
c.843G>A (p.Gln281=)
12g.101764848T>ACA386299063GNPTABc.2069A>T (p.Gln690Leu)
c.1988A>T (p.Gln663Leu)
c.1853A>T (p.Gln618Leu)
c.842A>T (p.Gln281Leu)
12g.101764848T>CCA386299065GNPTABc.2069A>G (p.Gln690Arg)
c.1988A>G (p.Gln663Arg)
c.1853A>G (p.Gln618Arg)
c.842A>G (p.Gln281Arg)
 gnomAD v4
12g.101764848T>GCA386299064GNPTABc.2069A>C (p.Gln690Pro)
c.1988A>C (p.Gln663Pro)
c.1853A>C (p.Gln618Pro)
c.842A>C (p.Gln281Pro)
12g.101764848T=CA2058955574GNPTABc.2069A= (p.Gln690=)
c.1988A= (p.Gln663=)
c.1853A= (p.Gln618=)
c.842A= (p.Gln281=)
12g.101764849G>ACA386299066GNPTABc.2068C>T (p.Gln690Ter)
c.1987C>T (p.Gln663Ter)
c.1852C>T (p.Gln618Ter)
c.841C>T (p.Gln281Ter)
 gnomAD v4
12g.101764849G>CCA386299067GNPTABc.2068C>G (p.Gln690Glu)
c.1987C>G (p.Gln663Glu)
c.1852C>G (p.Gln618Glu)
c.841C>G (p.Gln281Glu)
12g.101764849G>TCA386299068GNPTABc.2068C>A (p.Gln690Lys)
c.1987C>A (p.Gln663Lys)
c.1852C>A (p.Gln618Lys)
c.841C>A (p.Gln281Lys)
12g.101764851dupCA1139662831GNPTABc.2068dup (p.Gln690ProfsTer?)
c.1987dup (p.Gln663ProfsTer?)
c.1852dup (p.Gln618ProfsTer?)
c.841dup (p.Gln281ProfsTer?)
 ClinVar dbSNP
12g.101764850G>ACA481576949GNPTABc.2067C>T (p.Ala689=)
c.1986C>T (p.Ala662=)
c.1851C>T (p.Ala617=)
c.840C>T (p.Ala280=)
12g.101764850G>CCA481576950GNPTABc.2067C>G (p.Ala689=)
c.1986C>G (p.Ala662=)
c.1851C>G (p.Ala617=)
c.840C>G (p.Ala280=)
12g.101764850G=CA2058955575GNPTABc.2067C= (p.Ala689=)
c.1986C= (p.Ala662=)
c.1851C= (p.Ala617=)
c.840C= (p.Ala280=)
12g.101764850G>TCA481576951GNPTABc.2067C>A (p.Ala689=)
c.1986C>A (p.Ala662=)
c.1851C>A (p.Ala617=)
c.840C>A (p.Ala280=)
 dbSNP
12g.101764851G>ACA386299069GNPTABc.2066C>T (p.Ala689Val)
c.1985C>T (p.Ala662Val)
c.1850C>T (p.Ala617Val)
c.839C>T (p.Ala280Val)
 dbSNP gnomAD v4
12g.101764851G>CCA386299070GNPTABc.2066C>G (p.Ala689Gly)
c.1985C>G (p.Ala662Gly)
c.1850C>G (p.Ala617Gly)
c.839C>G (p.Ala280Gly)
12g.101764851G=CA2058955576GNPTABc.2066C= (p.Ala689=)
c.1985C= (p.Ala662=)
c.1850C= (p.Ala617=)
c.839C= (p.Ala280=)
12g.101764851G>TCA386299071GNPTABc.2066C>A (p.Ala689Asp)
c.1985C>A (p.Ala662Asp)
c.1850C>A (p.Ala617Asp)
c.839C>A (p.Ala280Asp)
 gnomAD v4
12g.101764852C>ACA386299072GNPTABc.2065G>T (p.Ala689Ser)
c.1984G>T (p.Ala662Ser)
c.1849G>T (p.Ala617Ser)
c.838G>T (p.Ala280Ser)
 gnomAD v4
12g.101764852C>GCA386299073GNPTABc.2065G>C (p.Ala689Pro)
c.1984G>C (p.Ala662Pro)
c.1849G>C (p.Ala617Pro)
c.838G>C (p.Ala280Pro)
12g.101764852C>TCA386299074GNPTABc.2065G>A (p.Ala689Thr)
c.1984G>A (p.Ala662Thr)
c.1849G>A (p.Ala617Thr)
c.838G>A (p.Ala280Thr)
12g.101764853T>ACA386299075GNPTABc.2064A>T (p.Arg688Ser)
c.1983A>T (p.Arg661Ser)
c.1848A>T (p.Arg616Ser)
c.837A>T (p.Arg279Ser)
12g.101764853T>CCA481576952GNPTABc.2064A>G (p.Arg688=)
c.1983A>G (p.Arg661=)
c.1848A>G (p.Arg616=)
c.837A>G (p.Arg279=)
12g.101764853T>GCA386299076GNPTABc.2064A>C (p.Arg688Ser)
c.1983A>C (p.Arg661Ser)
c.1848A>C (p.Arg616Ser)
c.837A>C (p.Arg279Ser)
12g.101764854C>ACA386299078GNPTABc.2063G>T (p.Arg688Ile)
c.1982G>T (p.Arg661Ile)
c.1847G>T (p.Arg616Ile)
c.836G>T (p.Arg279Ile)
12g.101764854C>GCA386299079GNPTABc.2063G>C (p.Arg688Thr)
c.1982G>C (p.Arg661Thr)
c.1847G>C (p.Arg616Thr)
c.836G>C (p.Arg279Thr)
12g.101764854C>TCA386299077GNPTABc.2063G>A (p.Arg688Lys)
c.1982G>A (p.Arg661Lys)
c.1847G>A (p.Arg616Lys)
c.836G>A (p.Arg279Lys)
12g.101764855T>ACA386299081GNPTABc.2062A>T (p.Arg688Ter)
c.1981A>T (p.Arg661Ter)
c.1846A>T (p.Arg616Ter)
c.835A>T (p.Arg279Ter)
12g.101764855T>CCA386299080GNPTABc.2062A>G (p.Arg688Gly)
c.1981A>G (p.Arg661Gly)
c.1846A>G (p.Arg616Gly)
c.835A>G (p.Arg279Gly)
 gnomAD v4
12g.101764855T>GCA481576953GNPTABc.2062A>C (p.Arg688=)
c.1981A>C (p.Arg661=)
c.1846A>C (p.Arg616=)
c.835A>C (p.Arg279=)
12g.101764856C>ACA6746480GNPTABc.2061G>T (p.Arg687Ser)
c.1980G>T (p.Arg660Ser)
c.1845G>T (p.Arg615Ser)
c.834G>T (p.Arg278Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764856C=CA2058955577GNPTABc.2061G= (p.Arg687=)
c.1980G= (p.Arg660=)
c.1845G= (p.Arg615=)
c.834G= (p.Arg278=)
12g.101764856C>GCA6746481GNPTABc.2061G>C (p.Arg687Ser)
c.1980G>C (p.Arg660Ser)
c.1845G>C (p.Arg615Ser)
c.834G>C (p.Arg278Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764856C>TCA481576954GNPTABc.2061G>A (p.Arg687=)
c.1980G>A (p.Arg660=)
c.1845G>A (p.Arg615=)
c.834G>A (p.Arg278=)
12g.101764857C>ACA386299082GNPTABc.2060G>T (p.Arg687Met)
c.1979G>T (p.Arg660Met)
c.1844G>T (p.Arg615Met)
c.833G>T (p.Arg278Met)
12g.101764857C=CA2058955578GNPTABc.2060G= (p.Arg687=)
c.1979G= (p.Arg660=)
c.1844G= (p.Arg615=)
c.833G= (p.Arg278=)
12g.101764857C>GCA386299083GNPTABc.2060G>C (p.Arg687Thr)
c.1979G>C (p.Arg660Thr)
c.1844G>C (p.Arg615Thr)
c.833G>C (p.Arg278Thr)
12g.101764857C>TCA386299084GNPTABc.2060G>A (p.Arg687Lys)
c.1979G>A (p.Arg660Lys)
c.1844G>A (p.Arg615Lys)
c.833G>A (p.Arg278Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.101764858T>ACA386299085GNPTABc.2059A>T (p.Arg687Trp)
c.1978A>T (p.Arg660Trp)
c.1843A>T (p.Arg615Trp)
c.832A>T (p.Arg278Trp)
12g.101764858T>CCA386299086GNPTABc.2059A>G (p.Arg687Gly)
c.1978A>G (p.Arg660Gly)
c.1843A>G (p.Arg615Gly)
c.832A>G (p.Arg278Gly)
12g.101764858T>GCA481576955GNPTABc.2059A>C (p.Arg687=)
c.1978A>C (p.Arg660=)
c.1843A>C (p.Arg615=)
c.832A>C (p.Arg278=)
12g.101764859T>ACA6746482GNPTABc.2058A>T (p.Thr686=)
c.1977A>T (p.Thr659=)
c.1842A>T (p.Thr614=)
c.831A>T (p.Thr277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764859T>CCA481576956GNPTABc.2058A>G (p.Thr686=)
c.1977A>G (p.Thr659=)
c.1842A>G (p.Thr614=)
c.831A>G (p.Thr277=)
12g.101764859T>GCA481576957GNPTABc.2058A>C (p.Thr686=)
c.1977A>C (p.Thr659=)
c.1842A>C (p.Thr614=)
c.831A>C (p.Thr277=)
12g.101764859T=CA2058955580GNPTABc.2058A= (p.Thr686=)
c.1977A= (p.Thr659=)
c.1842A= (p.Thr614=)
c.831A= (p.Thr277=)
12g.101764859_101764864delinsTGTTGACA2058955579GNPTABc.2053_2058delinsTCAACA (p.Ser685=)
c.1972_1977delinsTCAACA (p.Ser658=)
c.1837_1842delinsTCAACA (p.Ser613=)
c.826_831delinsTCAACA (p.Ser276=)
12g.101764860G>ACA386299087GNPTABc.2057C>T (p.Thr686Ile)
c.1976C>T (p.Thr659Ile)
c.1841C>T (p.Thr614Ile)
c.830C>T (p.Thr277Ile)
 COSMIC
12g.101764860G>CCA386299088GNPTABc.2057C>G (p.Thr686Arg)
c.1976C>G (p.Thr659Arg)
c.1841C>G (p.Thr614Arg)
c.830C>G (p.Thr277Arg)
12g.101764860G>TCA386299089GNPTABc.2057C>A (p.Thr686Lys)
c.1976C>A (p.Thr659Lys)
c.1841C>A (p.Thr614Lys)
c.830C>A (p.Thr277Lys)
12g.101764863_101764867delCA343066GNPTABc.2053_2057del (p.Ser685LysfsTer?)
c.1972_1976del (p.Ser658LysfsTer?)
c.1837_1841del (p.Ser613LysfsTer?)
c.826_830del (p.Ser276LysfsTer?)
 ClinVar dbSNP
12g.101764861T>ACA386299091GNPTABc.2056A>T (p.Thr686Ser)
c.1975A>T (p.Thr659Ser)
c.1840A>T (p.Thr614Ser)
c.829A>T (p.Thr277Ser)
12g.101764861T>CCA242456780GNPTABc.2056A>G (p.Thr686Ala)
c.1975A>G (p.Thr659Ala)
c.1840A>G (p.Thr614Ala)
c.829A>G (p.Thr277Ala)
 dbSNP gnomAD v4
12g.101764861T>GCA386299090GNPTABc.2056A>C (p.Thr686Pro)
c.1975A>C (p.Thr659Pro)
c.1840A>C (p.Thr614Pro)
c.829A>C (p.Thr277Pro)
12g.101764861T=CA2058955581GNPTABc.2056A= (p.Thr686=)
c.1975A= (p.Thr659=)
c.1840A= (p.Thr614=)
c.829A= (p.Thr277=)
12g.101764862delCA2620446602GNPTABc.2056del (p.Thr686GlnfsTer8)
c.1975del (p.Thr659GlnfsTer8)
c.1840del (p.Thr614GlnfsTer8)
c.829del (p.Thr277GlnfsTer8)
 gnomAD v4
12g.101764862T>ACA481576958GNPTABc.2055A>T (p.Ser685=)
c.1974A>T (p.Ser658=)
c.1839A>T (p.Ser613=)
c.828A>T (p.Ser276=)
 ClinVar dbSNP
12g.101764862T>CCA6746483GNPTABc.2055A>G (p.Ser685=)
c.1974A>G (p.Ser658=)
c.1839A>G (p.Ser613=)
c.828A>G (p.Ser276=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764862T>GCA481576959GNPTABc.2055A>C (p.Ser685=)
c.1974A>C (p.Ser658=)
c.1839A>C (p.Ser613=)
c.828A>C (p.Ser276=)
12g.101764862T=CA2058955582GNPTABc.2055A= (p.Ser685=)
c.1974A= (p.Ser658=)
c.1839A= (p.Ser613=)
c.828A= (p.Ser276=)
12g.101764863G>ACA386299092GNPTABc.2054C>T (p.Ser685Leu)
c.1973C>T (p.Ser658Leu)
c.1838C>T (p.Ser613Leu)
c.827C>T (p.Ser276Leu)
12g.101764863G>CCA386299093GNPTABc.2054C>G (p.Ser685Ter)
c.1973C>G (p.Ser658Ter)
c.1838C>G (p.Ser613Ter)
c.827C>G (p.Ser276Ter)
 COSMIC
12g.101764863G>TCA386299094GNPTABc.2054C>A (p.Ser685Ter)
c.1973C>A (p.Ser658Ter)
c.1838C>A (p.Ser613Ter)
c.827C>A (p.Ser276Ter)
 ClinVar COSMIC
12g.101764864A>CCA386299095GNPTABc.2053T>G (p.Ser685Ala)
c.1972T>G (p.Ser658Ala)
c.1837T>G (p.Ser613Ala)
c.826T>G (p.Ser276Ala)
12g.101764864A>GCA386299096GNPTABc.2053T>C (p.Ser685Pro)
c.1972T>C (p.Ser658Pro)
c.1837T>C (p.Ser613Pro)
c.826T>C (p.Ser276Pro)
12g.101764864A>TCA386299097GNPTABc.2053T>A (p.Ser685Thr)
c.1972T>A (p.Ser658Thr)
c.1837T>A (p.Ser613Thr)
c.826T>A (p.Ser276Thr)
 gnomAD v4
12g.101764865G>ACA481576960GNPTABc.2052C>T (p.Asn684=)
c.1971C>T (p.Asn657=)
c.1836C>T (p.Asn612=)
c.825C>T (p.Asn275=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101764865G>CCA386299098GNPTABc.2052C>G (p.Asn684Lys)
c.1971C>G (p.Asn657Lys)
c.1836C>G (p.Asn612Lys)
c.825C>G (p.Asn275Lys)
12g.101764865G=CA2058955583GNPTABc.2052C= (p.Asn684=)
c.1971C= (p.Asn657=)
c.1836C= (p.Asn612=)
c.825C= (p.Asn275=)
12g.101764865G>TCA386299099GNPTABc.2052C>A (p.Asn684Lys)
c.1971C>A (p.Asn657Lys)
c.1836C>A (p.Asn612Lys)
c.825C>A (p.Asn275Lys)
12g.101764866T>ACA386299100GNPTABc.2051A>T (p.Asn684Ile)
c.1970A>T (p.Asn657Ile)
c.1835A>T (p.Asn612Ile)
c.824A>T (p.Asn275Ile)
12g.101764866T>CCA386299101GNPTABc.2051A>G (p.Asn684Ser)
c.1970A>G (p.Asn657Ser)
c.1835A>G (p.Asn612Ser)
c.824A>G (p.Asn275Ser)
 gnomAD v4
12g.101764866T>GCA386299102GNPTABc.2051A>C (p.Asn684Thr)
c.1970A>C (p.Asn657Thr)
c.1835A>C (p.Asn612Thr)
c.824A>C (p.Asn275Thr)
12g.101764867T>ACA386299104GNPTABc.2050A>T (p.Asn684Tyr)
c.1969A>T (p.Asn657Tyr)
c.1834A>T (p.Asn612Tyr)
c.823A>T (p.Asn275Tyr)
12g.101764867T>CCA386299105GNPTABc.2050A>G (p.Asn684Asp)
c.1969A>G (p.Asn657Asp)
c.1834A>G (p.Asn612Asp)
c.823A>G (p.Asn275Asp)
12g.101764867T>GCA386299103GNPTABc.2050A>C (p.Asn684His)
c.1969A>C (p.Asn657His)
c.1834A>C (p.Asn612His)
c.823A>C (p.Asn275His)
12g.101764868A>CCA481576961GNPTABc.2049T>G (p.Val683=)
c.1968T>G (p.Val656=)
c.1833T>G (p.Val611=)
c.822T>G (p.Val274=)
12g.101764868A>GCA481576962GNPTABc.2049T>C (p.Val683=)
c.1968T>C (p.Val656=)
c.1833T>C (p.Val611=)
c.822T>C (p.Val274=)
12g.101764868A>TCA481576963GNPTABc.2049T>A (p.Val683=)
c.1968T>A (p.Val656=)
c.1833T>A (p.Val611=)
c.822T>A (p.Val274=)
12g.101764869A>CCA386299106GNPTABc.2048T>G (p.Val683Gly)
c.1967T>G (p.Val656Gly)
c.1832T>G (p.Val611Gly)
c.821T>G (p.Val274Gly)
12g.101764869A>GCA386299107GNPTABc.2048T>C (p.Val683Ala)
c.1967T>C (p.Val656Ala)
c.1832T>C (p.Val611Ala)
c.821T>C (p.Val274Ala)
12g.101764869A>TCA386299108GNPTABc.2048T>A (p.Val683Asp)
c.1967T>A (p.Val656Asp)
c.1832T>A (p.Val611Asp)
c.821T>A (p.Val274Asp)
12g.101764870C>ACA386299109GNPTABc.2047G>T (p.Val683Phe)
c.1966G>T (p.Val656Phe)
c.1831G>T (p.Val611Phe)
c.820G>T (p.Val274Phe)
 dbSNP gnomAD v2 gnomAD v4
12g.101764870C=CA2058955584GNPTABc.2047G= (p.Val683=)
c.1966G= (p.Val656=)
c.1831G= (p.Val611=)
c.820G= (p.Val274=)
12g.101764870C>GCA386299110GNPTABc.2047G>C (p.Val683Leu)
c.1966G>C (p.Val656Leu)
c.1831G>C (p.Val611Leu)
c.820G>C (p.Val274Leu)
12g.101764870C>TCA386299111GNPTABc.2047G>A (p.Val683Ile)
c.1966G>A (p.Val656Ile)
c.1831G>A (p.Val611Ile)
c.820G>A (p.Val274Ile)
 gnomAD v4
12g.101764871delCA2620446647GNPTABc.2046del (p.Asp682GlufsTer12)
c.1965del (p.Asp655GlufsTer12)
c.1830del (p.Asp610GlufsTer12)
c.819del (p.Asp273GlufsTer12)
 gnomAD v4
12g.101764871A=CA2058955585GNPTABc.2046T= (p.Asp682=)
c.1965T= (p.Asp655=)
c.1830T= (p.Asp610=)
c.819T= (p.Asp273=)
12g.101764871A>CCA386299112GNPTABc.2046T>G (p.Asp682Glu)
c.1965T>G (p.Asp655Glu)
c.1830T>G (p.Asp610Glu)
c.819T>G (p.Asp273Glu)
12g.101764871A>GCA6746484GNPTABc.2046T>C (p.Asp682=)
c.1965T>C (p.Asp655=)
c.1830T>C (p.Asp610=)
c.819T>C (p.Asp273=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764871A>TCA386299113GNPTABc.2046T>A (p.Asp682Glu)
c.1965T>A (p.Asp655Glu)
c.1830T>A (p.Asp610Glu)
c.819T>A (p.Asp273Glu)
 gnomAD v4
12g.101764872T>ACA386299114GNPTABc.2045A>T (p.Asp682Val)
c.1964A>T (p.Asp655Val)
c.1829A>T (p.Asp610Val)
c.818A>T (p.Asp273Val)
12g.101764872T>CCA386299115GNPTABc.2045A>G (p.Asp682Gly)
c.1964A>G (p.Asp655Gly)
c.1829A>G (p.Asp610Gly)
c.818A>G (p.Asp273Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101764872T>GCA386299116GNPTABc.2045A>C (p.Asp682Ala)
c.1964A>C (p.Asp655Ala)
c.1829A>C (p.Asp610Ala)
c.818A>C (p.Asp273Ala)
12g.101764872T=CA2058955586GNPTABc.2045A= (p.Asp682=)
c.1964A= (p.Asp655=)
c.1829A= (p.Asp610=)
c.818A= (p.Asp273=)
12g.101764873C>ACA386299117GNPTABc.2044G>T (p.Asp682Tyr)
c.1963G>T (p.Asp655Tyr)
c.1828G>T (p.Asp610Tyr)
c.817G>T (p.Asp273Tyr)
 COSMIC
12g.101764873C=CA2058955587GNPTABc.2044G= (p.Asp682=)
c.1963G= (p.Asp655=)
c.1828G= (p.Asp610=)
c.817G= (p.Asp273=)
12g.101764873C>GCA386299118GNPTABc.2044G>C (p.Asp682His)
c.1963G>C (p.Asp655His)
c.1828G>C (p.Asp610His)
c.817G>C (p.Asp273His)
12g.101764873C>TCA386299119GNPTABc.2044G>A (p.Asp682Asn)
c.1963G>A (p.Asp655Asn)
c.1828G>A (p.Asp610Asn)
c.817G>A (p.Asp273Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101764873_101764874delCA2620446656GNPTABc.2043_2044del (p.His681GlnfsTer3)
c.1962_1963del (p.His654GlnfsTer3)
c.1827_1828del (p.His609GlnfsTer3)
c.816_817del (p.His272GlnfsTer3)
 gnomAD v4
12g.101764874A>CCA386299120GNPTABc.2043T>G (p.His681Gln)
c.1962T>G (p.His654Gln)
c.1827T>G (p.His609Gln)
c.816T>G (p.His272Gln)
12g.101764874A>GCA481576964GNPTABc.2043T>C (p.His681=)
c.1962T>C (p.His654=)
c.1827T>C (p.His609=)
c.816T>C (p.His272=)
 ClinVar
12g.101764874A>TCA386299121GNPTABc.2043T>A (p.His681Gln)
c.1962T>A (p.His654Gln)
c.1827T>A (p.His609Gln)
c.816T>A (p.His272Gln)
12g.101764875T>ACA386299122GNPTABc.2042A>T (p.His681Leu)
c.1961A>T (p.His654Leu)
c.1826A>T (p.His609Leu)
c.815A>T (p.His272Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.101764875T>CCA386299123GNPTABc.2042A>G (p.His681Arg)
c.1961A>G (p.His654Arg)
c.1826A>G (p.His609Arg)
c.815A>G (p.His272Arg)
 ClinVar dbSNP gnomAD v4
12g.101764875T>GCA386299124GNPTABc.2042A>C (p.His681Pro)
c.1961A>C (p.His654Pro)
c.1826A>C (p.His609Pro)
c.815A>C (p.His272Pro)
12g.101764875T=CA2058955588GNPTABc.2042A= (p.His681=)
c.1961A= (p.His654=)
c.1826A= (p.His609=)
c.815A= (p.His272=)
12g.101764876G>ACA386299125GNPTABc.2041C>T (p.His681Tyr)
c.1960C>T (p.His654Tyr)
c.1825C>T (p.His609Tyr)
c.814C>T (p.His272Tyr)
12g.101764876G>CCA386299126GNPTABc.2041C>G (p.His681Asp)
c.1960C>G (p.His654Asp)
c.1825C>G (p.His609Asp)
c.814C>G (p.His272Asp)
12g.101764876G=CA2058955589GNPTABc.2041C= (p.His681=)
c.1960C= (p.His654=)
c.1825C= (p.His609=)
c.814C= (p.His272=)
12g.101764876G>TCA386299127GNPTABc.2041C>A (p.His681Asn)
c.1960C>A (p.His654Asn)
c.1825C>A (p.His609Asn)
c.814C>A (p.His272Asn)
 ClinVar dbSNP gnomAD v4
12g.101764877T>ACA386299128GNPTABc.2040A>T (p.Arg680Ser)
c.1959A>T (p.Arg653Ser)
c.1824A>T (p.Arg608Ser)
c.813A>T (p.Arg271Ser)
12g.101764877T>CCA242456791GNPTABc.2040A>G (p.Arg680=)
c.1959A>G (p.Arg653=)
c.1824A>G (p.Arg608=)
c.813A>G (p.Arg271=)
 dbSNP gnomAD v4
12g.101764877T>GCA386299129GNPTABc.2040A>C (p.Arg680Ser)
c.1959A>C (p.Arg653Ser)
c.1824A>C (p.Arg608Ser)
c.813A>C (p.Arg271Ser)
12g.101764877T=CA2058955590GNPTABc.2040A= (p.Arg680=)
c.1959A= (p.Arg653=)
c.1824A= (p.Arg608=)
c.813A= (p.Arg271=)
12g.101764878C>ACA386299130GNPTABc.2039G>T (p.Arg680Ile)
c.1958G>T (p.Arg653Ile)
c.1823G>T (p.Arg608Ile)
c.812G>T (p.Arg271Ile)
12g.101764878C=CA2058955591GNPTABc.2039G= (p.Arg680=)
c.1958G= (p.Arg653=)
c.1823G= (p.Arg608=)
c.812G= (p.Arg271=)
12g.101764878C>GCA386299131GNPTABc.2039G>C (p.Arg680Thr)
c.1958G>C (p.Arg653Thr)
c.1823G>C (p.Arg608Thr)
c.812G>C (p.Arg271Thr)
12g.101764878C>TCA242456794GNPTABc.2039G>A (p.Arg680Lys)
c.1958G>A (p.Arg653Lys)
c.1823G>A (p.Arg608Lys)
c.812G>A (p.Arg271Lys)
 dbSNP
12g.101764879T>ACA386299132GNPTABc.2038A>T (p.Arg680Ter)
c.1957A>T (p.Arg653Ter)
c.1822A>T (p.Arg608Ter)
c.811A>T (p.Arg271Ter)
12g.101764879T>CCA386299133GNPTABc.2038A>G (p.Arg680Gly)
c.1957A>G (p.Arg653Gly)
c.1822A>G (p.Arg608Gly)
c.811A>G (p.Arg271Gly)
12g.101764879T>GCA481576965GNPTABc.2038A>C (p.Arg680=)
c.1957A>C (p.Arg653=)
c.1822A>C (p.Arg608=)
c.811A>C (p.Arg271=)
 gnomAD v4
12g.101764880C>ACA386299134GNPTABc.2037G>T (p.Lys679Asn)
c.1956G>T (p.Lys652Asn)
c.1821G>T (p.Lys607Asn)
c.810G>T (p.Lys270Asn)
12g.101764880C>GCA386299135GNPTABc.2037G>C (p.Lys679Asn)
c.1956G>C (p.Lys652Asn)
c.1821G>C (p.Lys607Asn)
c.810G>C (p.Lys270Asn)
12g.101764880C>TCA481576966GNPTABc.2037G>A (p.Lys679=)
c.1956G>A (p.Lys652=)
c.1821G>A (p.Lys607=)
c.810G>A (p.Lys270=)
12g.101764881T>ACA386299136GNPTABc.2036A>T (p.Lys679Met)
c.1955A>T (p.Lys652Met)
c.1820A>T (p.Lys607Met)
c.809A>T (p.Lys270Met)
12g.101764881T>CCA386299138GNPTABc.2036A>G (p.Lys679Arg)
c.1955A>G (p.Lys652Arg)
c.1820A>G (p.Lys607Arg)
c.809A>G (p.Lys270Arg)
 dbSNP
12g.101764881T>GCA386299137GNPTABc.2036A>C (p.Lys679Thr)
c.1955A>C (p.Lys652Thr)
c.1820A>C (p.Lys607Thr)
c.809A>C (p.Lys270Thr)
12g.101764882dupCA2740092579GNPTABc.2036dup (p.Arg680GlufsTer3)
c.1955dup (p.Arg653GlufsTer3)
c.1820dup (p.Arg608GlufsTer3)
c.809dup (p.Arg271GlufsTer3)
 ClinVar
12g.101764882T>ACA386299139GNPTABc.2035A>T (p.Lys679Ter)
c.1954A>T (p.Lys652Ter)
c.1819A>T (p.Lys607Ter)
c.808A>T (p.Lys270Ter)
12g.101764882T>CCA386299141GNPTABc.2035A>G (p.Lys679Glu)
c.1954A>G (p.Lys652Glu)
c.1819A>G (p.Lys607Glu)
c.808A>G (p.Lys270Glu)
12g.101764882T>GCA386299140GNPTABc.2035A>C (p.Lys679Gln)
c.1954A>C (p.Lys652Gln)
c.1819A>C (p.Lys607Gln)
c.808A>C (p.Lys270Gln)
12g.101764883A>CCA386299142GNPTABc.2034T>G (p.Phe678Leu)
c.1953T>G (p.Phe651Leu)
c.1818T>G (p.Phe606Leu)
c.807T>G (p.Phe269Leu)
12g.101764883A>GCA481576967GNPTABc.2034T>C (p.Phe678=)
c.1953T>C (p.Phe651=)
c.1818T>C (p.Phe606=)
c.807T>C (p.Phe269=)
 gnomAD v4
12g.101764883A>TCA386299143GNPTABc.2034T>A (p.Phe678Leu)
c.1953T>A (p.Phe651Leu)
c.1818T>A (p.Phe606Leu)
c.807T>A (p.Phe269Leu)
12g.101764884A>CCA386299144GNPTABc.2033T>G (p.Phe678Cys)
c.1952T>G (p.Phe651Cys)
c.1817T>G (p.Phe606Cys)
c.806T>G (p.Phe269Cys)
12g.101764884A>GCA386299145GNPTABc.2033T>C (p.Phe678Ser)
c.1952T>C (p.Phe651Ser)
c.1817T>C (p.Phe606Ser)
c.806T>C (p.Phe269Ser)
12g.101764884A>TCA386299146GNPTABc.2033T>A (p.Phe678Tyr)
c.1952T>A (p.Phe651Tyr)
c.1817T>A (p.Phe606Tyr)
c.806T>A (p.Phe269Tyr)
12g.101764885A>CCA386299147GNPTABc.2032T>G (p.Phe678Val)
c.1951T>G (p.Phe651Val)
c.1816T>G (p.Phe606Val)
c.805T>G (p.Phe269Val)
12g.101764885A>GCA386299148GNPTABc.2032T>C (p.Phe678Leu)
c.1951T>C (p.Phe651Leu)
c.1816T>C (p.Phe606Leu)
c.805T>C (p.Phe269Leu)
12g.101764885A>TCA386299149GNPTABc.2032T>A (p.Phe678Ile)
c.1951T>A (p.Phe651Ile)
c.1816T>A (p.Phe606Ile)
c.805T>A (p.Phe269Ile)
12g.101764886C>ACA386299150GNPTABc.2031G>T (p.Lys677Asn)
c.1950G>T (p.Lys650Asn)
c.1815G>T (p.Lys605Asn)
c.804G>T (p.Lys268Asn)
 gnomAD v4
12g.101764886C=CA2058955592GNPTABc.2031G= (p.Lys677=)
c.1950G= (p.Lys650=)
c.1815G= (p.Lys605=)
c.804G= (p.Lys268=)
12g.101764886C>GCA386299151GNPTABc.2031G>C (p.Lys677Asn)
c.1950G>C (p.Lys650Asn)
c.1815G>C (p.Lys605Asn)
c.804G>C (p.Lys268Asn)
12g.101764886C>TCA481576968GNPTABc.2031G>A (p.Lys677=)
c.1950G>A (p.Lys650=)
c.1815G>A (p.Lys605=)
c.804G>A (p.Lys268=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101764887T>ACA386299152GNPTABc.2030A>T (p.Lys677Met)
c.1949A>T (p.Lys650Met)
c.1814A>T (p.Lys605Met)
c.803A>T (p.Lys268Met)
12g.101764887T>CCA386299153GNPTABc.2030A>G (p.Lys677Arg)
c.1949A>G (p.Lys650Arg)
c.1814A>G (p.Lys605Arg)
c.803A>G (p.Lys268Arg)
12g.101764887T>GCA386299154GNPTABc.2030A>C (p.Lys677Thr)
c.1949A>C (p.Lys650Thr)
c.1814A>C (p.Lys605Thr)
c.803A>C (p.Lys268Thr)
12g.101764888T>ACA386299157GNPTABc.2029A>T (p.Lys677Ter)
c.1948A>T (p.Lys650Ter)
c.1813A>T (p.Lys605Ter)
c.802A>T (p.Lys268Ter)
12g.101764888T>CCA386299155GNPTABc.2029A>G (p.Lys677Glu)
c.1948A>G (p.Lys650Glu)
c.1813A>G (p.Lys605Glu)
c.802A>G (p.Lys268Glu)
12g.101764888T>GCA386299156GNPTABc.2029A>C (p.Lys677Gln)
c.1948A>C (p.Lys650Gln)
c.1813A>C (p.Lys605Gln)
c.802A>C (p.Lys268Gln)
12g.101764889C>ACA481576969GNPTABc.2028G>T (p.Pro676=)
c.1947G>T (p.Pro649=)
c.1812G>T (p.Pro604=)
c.801G>T (p.Pro267=)
12g.101764889C=CA2058955593GNPTABc.2028G= (p.Pro676=)
c.1947G= (p.Pro649=)
c.1812G= (p.Pro604=)
c.801G= (p.Pro267=)
12g.101764889C>GCA481576970GNPTABc.2028G>C (p.Pro676=)
c.1947G>C (p.Pro649=)
c.1812G>C (p.Pro604=)
c.801G>C (p.Pro267=)
12g.101764889C>TCA6746485GNPTABc.2028G>A (p.Pro676=)
c.1947G>A (p.Pro649=)
c.1812G>A (p.Pro604=)
c.801G>A (p.Pro267=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764890G>ACA6746486GNPTABc.2027C>T (p.Pro676Leu)
c.1946C>T (p.Pro649Leu)
c.1811C>T (p.Pro604Leu)
c.800C>T (p.Pro267Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764890G>CCA386299158GNPTABc.2027C>G (p.Pro676Arg)
c.1946C>G (p.Pro649Arg)
c.1811C>G (p.Pro604Arg)
c.800C>G (p.Pro267Arg)
12g.101764890G=CA2058955594GNPTABc.2027C= (p.Pro676=)
c.1946C= (p.Pro649=)
c.1811C= (p.Pro604=)
c.800C= (p.Pro267=)
12g.101764890G>TCA386299159GNPTABc.2027C>A (p.Pro676Gln)
c.1946C>A (p.Pro649Gln)
c.1811C>A (p.Pro604Gln)
c.800C>A (p.Pro267Gln)
12g.101764895_101764911delCA2620446705GNPTABc.2011_2027del (p.Lys671GlufsTer3)
c.1930_1946del (p.Lys644GlufsTer3)
c.1795_1811del (p.Lys599GlufsTer3)
c.784_800del (p.Lys262GlufsTer3)
 gnomAD v4
12g.101764891G>ACA386299160GNPTABc.2026C>T (p.Pro676Ser)
c.1945C>T (p.Pro649Ser)
c.1810C>T (p.Pro604Ser)
c.799C>T (p.Pro267Ser)
12g.101764891G>CCA386299161GNPTABc.2026C>G (p.Pro676Ala)
c.1945C>G (p.Pro649Ala)
c.1810C>G (p.Pro604Ala)
c.799C>G (p.Pro267Ala)
12g.101764891G>TCA386299162GNPTABc.2026C>A (p.Pro676Thr)
c.1945C>A (p.Pro649Thr)
c.1810C>A (p.Pro604Thr)
c.799C>A (p.Pro267Thr)
12g.101764892G>ACA481576971GNPTABc.2025C>T (p.Phe675=)
c.1944C>T (p.Phe648=)
c.1809C>T (p.Phe603=)
c.798C>T (p.Phe266=)
 ClinVar
12g.101764892G>CCA386299163GNPTABc.2025C>G (p.Phe675Leu)
c.1944C>G (p.Phe648Leu)
c.1809C>G (p.Phe603Leu)
c.798C>G (p.Phe266Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.101764892G=CA2058955595GNPTABc.2025C= (p.Phe675=)
c.1944C= (p.Phe648=)
c.1809C= (p.Phe603=)
c.798C= (p.Phe266=)
12g.101764892G>TCA386299164GNPTABc.2025C>A (p.Phe675Leu)
c.1944C>A (p.Phe648Leu)
c.1809C>A (p.Phe603Leu)
c.798C>A (p.Phe266Leu)
12g.101764893A>CCA386299165GNPTABc.2024T>G (p.Phe675Cys)
c.1943T>G (p.Phe648Cys)
c.1808T>G (p.Phe603Cys)
c.797T>G (p.Phe266Cys)
12g.101764893A>GCA386299166GNPTABc.2024T>C (p.Phe675Ser)
c.1943T>C (p.Phe648Ser)
c.1808T>C (p.Phe603Ser)
c.797T>C (p.Phe266Ser)
12g.101764893A>TCA386299167GNPTABc.2024T>A (p.Phe675Tyr)
c.1943T>A (p.Phe648Tyr)
c.1808T>A (p.Phe603Tyr)
c.797T>A (p.Phe266Tyr)
12g.101764894A>CCA386299168GNPTABc.2023T>G (p.Phe675Val)
c.1942T>G (p.Phe648Val)
c.1807T>G (p.Phe603Val)
c.796T>G (p.Phe266Val)
12g.101764894A>GCA386299170GNPTABc.2023T>C (p.Phe675Leu)
c.1942T>C (p.Phe648Leu)
c.1807T>C (p.Phe603Leu)
c.796T>C (p.Phe266Leu)
12g.101764894A>TCA386299169GNPTABc.2023T>A (p.Phe675Ile)
c.1942T>A (p.Phe648Ile)
c.1807T>A (p.Phe603Ile)
c.796T>A (p.Phe266Ile)
12g.101764895G>ACA481576972GNPTABc.2022C>T (p.Arg674=)
c.1941C>T (p.Arg647=)
c.1806C>T (p.Arg602=)
c.795C>T (p.Arg265=)
12g.101764895G>CCA481576973GNPTABc.2022C>G (p.Arg674=)
c.1941C>G (p.Arg647=)
c.1806C>G (p.Arg602=)
c.795C>G (p.Arg265=)
12g.101764895G>TCA481576974GNPTABc.2022C>A (p.Arg674=)
c.1941C>A (p.Arg647=)
c.1806C>A (p.Arg602=)
c.795C>A (p.Arg265=)
12g.101764896C>ACA386299171GNPTABc.2021G>T (p.Arg674Leu)
c.1940G>T (p.Arg647Leu)
c.1805G>T (p.Arg602Leu)
c.794G>T (p.Arg265Leu)
12g.101764896C=CA2058955596GNPTABc.2021G= (p.Arg674=)
c.1940G= (p.Arg647=)
c.1805G= (p.Arg602=)
c.794G= (p.Arg265=)
12g.101764896C>GCA386299172GNPTABc.2021G>C (p.Arg674Pro)
c.1940G>C (p.Arg647Pro)
c.1805G>C (p.Arg602Pro)
c.794G>C (p.Arg265Pro)
12g.101764896C>TCA386299173GNPTABc.2021G>A (p.Arg674His)
c.1940G>A (p.Arg647His)
c.1805G>A (p.Arg602His)
c.794G>A (p.Arg265His)
 dbSNP gnomAD v4
12g.101764897G>ACA6746487GNPTABc.2020C>T (p.Arg674Cys)
c.1939C>T (p.Arg647Cys)
c.1804C>T (p.Arg602Cys)
c.793C>T (p.Arg265Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764897G>CCA386299174GNPTABc.2020C>G (p.Arg674Gly)
c.1939C>G (p.Arg647Gly)
c.1804C>G (p.Arg602Gly)
c.793C>G (p.Arg265Gly)
12g.101764897G=CA2058955597GNPTABc.2020C= (p.Arg674=)
c.1939C= (p.Arg647=)
c.1804C= (p.Arg602=)
c.793C= (p.Arg265=)
12g.101764897G>TCA386299175GNPTABc.2020C>A (p.Arg674Ser)
c.1939C>A (p.Arg647Ser)
c.1804C>A (p.Arg602Ser)
c.793C>A (p.Arg265Ser)
 ClinVar gnomAD v4
12g.101764898T>ACA386299176GNPTABc.2019A>T (p.Lys673Asn)
c.1938A>T (p.Lys646Asn)
c.1803A>T (p.Lys601Asn)
c.792A>T (p.Lys264Asn)
 dbSNP gnomAD v4
12g.101764898T>CCA6746488GNPTABc.2019A>G (p.Lys673=)
c.1938A>G (p.Lys646=)
c.1803A>G (p.Lys601=)
c.792A>G (p.Lys264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101764898T>GCA386299177GNPTABc.2019A>C (p.Lys673Asn)
c.1938A>C (p.Lys646Asn)
c.1803A>C (p.Lys601Asn)
c.792A>C (p.Lys264Asn)
12g.101764898T=CA2058955598GNPTABc.2019A= (p.Lys673=)
c.1938A= (p.Lys646=)
c.1803A= (p.Lys601=)
c.792A= (p.Lys264=)
12g.101764899T>ACA386299178GNPTABc.2018A>T (p.Lys673Ile)
c.1937A>T (p.Lys646Ile)
c.1802A>T (p.Lys601Ile)
c.791A>T (p.Lys264Ile)
12g.101764899T>CCA386299179GNPTABc.2018A>G (p.Lys673Arg)
c.1937A>G (p.Lys646Arg)
c.1802A>G (p.Lys601Arg)
c.791A>G (p.Lys264Arg)
12g.101764899T>GCA386299180GNPTABc.2018A>C (p.Lys673Thr)
c.1937A>C (p.Lys646Thr)
c.1802A>C (p.Lys601Thr)
c.791A>C (p.Lys264Thr)
12g.101764900T>ACA386299181GNPTABc.2017A>T (p.Lys673Ter)
c.1936A>T (p.Lys646Ter)
c.1801A>T (p.Lys601Ter)
c.790A>T (p.Lys264Ter)
12g.101764900T>CCA386299183GNPTABc.2017A>G (p.Lys673Glu)
c.1936A>G (p.Lys646Glu)
c.1801A>G (p.Lys601Glu)
c.790A>G (p.Lys264Glu)
12g.101764900T>GCA386299182GNPTABc.2017A>C (p.Lys673Gln)
c.1936A>C (p.Lys646Gln)
c.1801A>C (p.Lys601Gln)
c.790A>C (p.Lys264Gln)
12g.101764901T>ACA386299184GNPTABc.2016A>T (p.Glu672Asp)
c.1935A>T (p.Glu645Asp)
c.1800A>T (p.Glu600Asp)
c.789A>T (p.Glu263Asp)
12g.101764901T>CCA481576975GNPTABc.2016A>G (p.Glu672=)
c.1935A>G (p.Glu645=)
c.1800A>G (p.Glu600=)
c.789A>G (p.Glu263=)
 ClinVar
12g.101764901T>GCA386299185GNPTABc.2016A>C (p.Glu672Asp)
c.1935A>C (p.Glu645Asp)
c.1800A>C (p.Glu600Asp)
c.789A>C (p.Glu263Asp)
12g.101764902T>ACA386299186GNPTABc.2015A>T (p.Glu672Val)
c.1934A>T (p.Glu645Val)
c.1799A>T (p.Glu600Val)
c.788A>T (p.Glu263Val)
12g.101764902T>CCA242456808GNPTABc.2015A>G (p.Glu672Gly)
c.1934A>G (p.Glu645Gly)
c.1799A>G (p.Glu600Gly)
c.788A>G (p.Glu263Gly)
 dbSNP gnomAD v4
12g.101764902T>GCA386299187GNPTABc.2015A>C (p.Glu672Ala)
c.1934A>C (p.Glu645Ala)
c.1799A>C (p.Glu600Ala)
c.788A>C (p.Glu263Ala)
12g.101764902T=CA2058955599GNPTABc.2015A= (p.Glu672=)
c.1934A= (p.Glu645=)
c.1799A= (p.Glu600=)
c.788A= (p.Glu263=)
12g.101764903C>ACA386299188GNPTABc.2014G>T (p.Glu672Ter)
c.1933G>T (p.Glu645Ter)
c.1798G>T (p.Glu600Ter)
c.787G>T (p.Glu263Ter)
12g.101764903C=CA2058955600GNPTABc.2014G= (p.Glu672=)
c.1933G= (p.Glu645=)
c.1798G= (p.Glu600=)
c.787G= (p.Glu263=)
12g.101764903C>GCA386299189GNPTABc.2014G>C (p.Glu672Gln)
c.1933G>C (p.Glu645Gln)
c.1798G>C (p.Glu600Gln)
c.787G>C (p.Glu263Gln)
12g.101764903C>TCA6746489GNPTABc.2014G>A (p.Glu672Lys)
c.1933G>A (p.Glu645Lys)
c.1798G>A (p.Glu600Lys)
c.787G>A (p.Glu263Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764904T>ACA386299190GNPTABc.2013A>T (p.Lys671Asn)
c.1932A>T (p.Lys644Asn)
c.1797A>T (p.Lys599Asn)
c.786A>T (p.Lys262Asn)
12g.101764904T>CCA481576976GNPTABc.2013A>G (p.Lys671=)
c.1932A>G (p.Lys644=)
c.1797A>G (p.Lys599=)
c.786A>G (p.Lys262=)
 dbSNP
12g.101764904T>GCA386299191GNPTABc.2013A>C (p.Lys671Asn)
c.1932A>C (p.Lys644Asn)
c.1797A>C (p.Lys599Asn)
c.786A>C (p.Lys262Asn)
12g.101764904T=CA2058955601GNPTABc.2013A= (p.Lys671=)
c.1932A= (p.Lys644=)
c.1797A= (p.Lys599=)
c.786A= (p.Lys262=)
12g.101764905T>ACA386299193GNPTABc.2012A>T (p.Lys671Ile)
c.1931A>T (p.Lys644Ile)
c.1796A>T (p.Lys599Ile)
c.785A>T (p.Lys262Ile)
12g.101764905T>CCA242456809GNPTABc.2012A>G (p.Lys671Arg)
c.1931A>G (p.Lys644Arg)
c.1796A>G (p.Lys599Arg)
c.785A>G (p.Lys262Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
12g.101764905T>GCA386299192GNPTABc.2012A>C (p.Lys671Thr)
c.1931A>C (p.Lys644Thr)
c.1796A>C (p.Lys599Thr)
c.785A>C (p.Lys262Thr)
12g.101764905T=CA2058955602GNPTABc.2012A= (p.Lys671=)
c.1931A= (p.Lys644=)
c.1796A= (p.Lys599=)
c.785A= (p.Lys262=)
12g.101764906T>ACA386299196GNPTABc.2011A>T (p.Lys671Ter)
c.1930A>T (p.Lys644Ter)
c.1795A>T (p.Lys599Ter)
c.784A>T (p.Lys262Ter)
12g.101764906T>CCA386299194GNPTABc.2011A>G (p.Lys671Glu)
c.1930A>G (p.Lys644Glu)
c.1795A>G (p.Lys599Glu)
c.784A>G (p.Lys262Glu)
12g.101764906T>GCA386299195GNPTABc.2011A>C (p.Lys671Gln)
c.1930A>C (p.Lys644Gln)
c.1795A>C (p.Lys599Gln)
c.784A>C (p.Lys262Gln)
12g.101764907G>ACA481576978GNPTABc.2010C>T (p.Pro670=)
c.1929C>T (p.Pro643=)
c.1794C>T (p.Pro598=)
c.783C>T (p.Pro261=)
 dbSNP gnomAD v4
12g.101764907G>CCA481576977GNPTABc.2010C>G (p.Pro670=)
c.1929C>G (p.Pro643=)
c.1794C>G (p.Pro598=)
c.783C>G (p.Pro261=)
 gnomAD v4
12g.101764907G=CA2058955603GNPTABc.2010C= (p.Pro670=)
c.1929C= (p.Pro643=)
c.1794C= (p.Pro598=)
c.783C= (p.Pro261=)
12g.101764907G>TCA6746490GNPTABc.2010C>A (p.Pro670=)
c.1929C>A (p.Pro643=)
c.1794C>A (p.Pro598=)
c.783C>A (p.Pro261=)
 dbSNP ExAC gnomAD v2
12g.101764909delCA2580085680GNPTABc.2010del (p.Glu672LysfsTer22)
c.1929del (p.Glu645LysfsTer22)
c.1794del (p.Glu600LysfsTer22)
c.783del (p.Glu263LysfsTer22)
 ClinVar gnomAD v4
12g.101764908_101764909delCA2580085679GNPTABc.2009_2010del (p.Pro670GlnfsTer9)
c.1928_1929del (p.Pro643GlnfsTer9)
c.1793_1794del (p.Pro598GlnfsTer9)
c.782_783del (p.Pro261GlnfsTer9)
 ClinVar
12g.101764908G>ACA386299197GNPTABc.2009C>T (p.Pro670Leu)
c.1928C>T (p.Pro643Leu)
c.1793C>T (p.Pro598Leu)
c.782C>T (p.Pro261Leu)
12g.101764908G>CCA386299198GNPTABc.2009C>G (p.Pro670Arg)
c.1928C>G (p.Pro643Arg)
c.1793C>G (p.Pro598Arg)
c.782C>G (p.Pro261Arg)
12g.101764908G>TCA386299199GNPTABc.2009C>A (p.Pro670His)
c.1928C>A (p.Pro643His)
c.1793C>A (p.Pro598His)
c.782C>A (p.Pro261His)
12g.101764909G>ACA386299202GNPTABc.2008C>T (p.Pro670Ser)
c.1927C>T (p.Pro643Ser)
c.1792C>T (p.Pro598Ser)
c.781C>T (p.Pro261Ser)
12g.101764909G>CCA386299200GNPTABc.2008C>G (p.Pro670Ala)
c.1927C>G (p.Pro643Ala)
c.1792C>G (p.Pro598Ala)
c.781C>G (p.Pro261Ala)
 gnomAD v4
12g.101764909G>TCA386299201GNPTABc.2008C>A (p.Pro670Thr)
c.1927C>A (p.Pro643Thr)
c.1792C>A (p.Pro598Thr)
c.781C>A (p.Pro261Thr)
 COSMIC
12g.101764910A=CA2058955604GNPTABc.2007T= (p.Ile669=)
c.1926T= (p.Ile642=)
c.1791T= (p.Ile597=)
c.780T= (p.Ile260=)
12g.101764910A>CCA386299203GNPTABc.2007T>G (p.Ile669Met)
c.1926T>G (p.Ile642Met)
c.1791T>G (p.Ile597Met)
c.780T>G (p.Ile260Met)
12g.101764910A>GCA6746491GNPTABc.2007T>C (p.Ile669=)
c.1926T>C (p.Ile642=)
c.1791T>C (p.Ile597=)
c.780T>C (p.Ile260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101764910A>TCA481576979GNPTABc.2007T>A (p.Ile669=)
c.1926T>A (p.Ile642=)
c.1791T>A (p.Ile597=)
c.780T>A (p.Ile260=)
12g.101764912_101764913insTGGATCTCAATTTTTAATCAACAAATCA2620446778GNPTABc.2007_2008insTGTTGATTAAAAATTGAGATCCAATT (p.Pro670CysfsTer2)
c.1926_1927insTGTTGATTAAAAATTGAGATCCAATT (p.Pro643CysfsTer2)
c.1791_1792insTGTTGATTAAAAATTGAGATCCAATT (p.Pro598CysfsTer2)
c.780_781insTGTTGATTAAAAATTGAGATCCAATT (p.Pro261CysfsTer2)
 gnomAD v4
12g.101764911A>CCA386299204GNPTABc.2006T>G (p.Ile669Ser)
c.1925T>G (p.Ile642Ser)
c.1790T>G (p.Ile597Ser)
c.779T>G (p.Ile260Ser)
12g.101764911A>GCA386299205GNPTABc.2006T>C (p.Ile669Thr)
c.1925T>C (p.Ile642Thr)
c.1790T>C (p.Ile597Thr)
c.779T>C (p.Ile260Thr)
 gnomAD v4
12g.101764911A>TCA386299206GNPTABc.2006T>A (p.Ile669Asn)
c.1925T>A (p.Ile642Asn)
c.1790T>A (p.Ile597Asn)
c.779T>A (p.Ile260Asn)
12g.101764912T>ACA386299207GNPTABc.2005A>T (p.Ile669Phe)
c.1924A>T (p.Ile642Phe)
c.1789A>T (p.Ile597Phe)
c.778A>T (p.Ile260Phe)
 dbSNP gnomAD v2 gnomAD v4
12g.101764912T>CCA386299209GNPTABc.2005A>G (p.Ile669Val)
c.1924A>G (p.Ile642Val)
c.1789A>G (p.Ile597Val)
c.778A>G (p.Ile260Val)
 dbSNP gnomAD v2 gnomAD v4
12g.101764912T>GCA386299208GNPTABc.2005A>C (p.Ile669Leu)
c.1924A>C (p.Ile642Leu)
c.1789A>C (p.Ile597Leu)
c.778A>C (p.Ile260Leu)
12g.101764912T=CA2058955605GNPTABc.2005A= (p.Ile669=)
c.1924A= (p.Ile642=)
c.1789A= (p.Ile597=)
c.778A= (p.Ile260=)
12g.101764912_101764913insTGGATCTCAATTTTTAATCAACAAATATCTCA951176028GNPTABc.2005_2006insGATATTTGTTGATTAAAAATTGAGATCCAA (p.Ile669ArgfsTer8)
c.1924_1925insGATATTTGTTGATTAAAAATTGAGATCCAA (p.Ile642ArgfsTer8)
c.1789_1790insGATATTTGTTGATTAAAAATTGAGATCCAA (p.Ile597ArgfsTer8)
c.778_779insGATATTTGTTGATTAAAAATTGAGATCCAA (p.Ile260ArgfsTer8)
 gnomAD v3 gnomAD v4
12g.101764912_101764913insTGGATCTCAATTTTTAATCAACAAATATCTATTGAGTCTCTACTACGTACAGGTCA912973319GNPTABc.2005_2006insCCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCAA (p.Ile669ThrfsTer4)
c.1924_1925insCCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCAA (p.Ile642ThrfsTer4)
c.1789_1790insCCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCAA (p.Ile597ThrfsTer4)
c.778_779insCCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCAA (p.Ile260ThrfsTer4)
 gnomAD v3 gnomAD v4
12g.101764912_101764913insTGGCA607597814GNPTABc.2004_2005insCCA (p.Asp668_Ile669insPro)
c.1923_1924insCCA (p.Asp641_Ile642insPro)
c.1788_1789insCCA (p.Asp596_Ile597insPro)
c.777_778insCCA (p.Asp259_Ile260insPro)
 gnomAD v2 gnomAD v3 gnomAD v4
12g.101764912_101764913insTGGATCTCAATTTTTACA951176033GNPTABc.2004_2005insTAAAAATTGAGATCCA (p.Ile669Ter)
c.1923_1924insTAAAAATTGAGATCCA (p.Ile642Ter)
c.1788_1789insTAAAAATTGAGATCCA (p.Ile597Ter)
c.777_778insTAAAAATTGAGATCCA (p.Ile260Ter)
 gnomAD v3 gnomAD v4
12g.101764912_101764913insTGGATCTCAATTTTTAATCAACAAATATCTATTGAGTCTCTACTACGTACAGGTATACA951176034GNPTABc.2004_2005insTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA
c.1923_1924insTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA
c.1788_1789insTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA
c.777_778insTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA
 gnomAD v3 gnomAD v4
12g.101764912_101764913insTGGATCTCAATTTTTAATCAACAAATATCTATTGAGTCTCTACTACGTACAGGTATAATGTGAGCTTTGCA607597815GNPTABc.2004_2005insCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA
c.1923_1924insCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA
c.1788_1789insCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA
c.777_778insCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA
 gnomAD v2 gnomAD v3 gnomAD v4
12g.101764912_101764913insTGGATCTCAATTTTTAATCAACAAATATCTATTGAGTCTCTACTACGTACAGGTATAATGTGAGCTTTGATACTTGCTTTTTCTTCCTTTAGCA607597816GNPTABc.2004_2005insCTAAAGGAAGAAAAAGCAAGTATCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA (p.Ile669LeufsTer25)
c.1923_1924insCTAAAGGAAGAAAAAGCAAGTATCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA (p.Ile642LeufsTer25)
c.1788_1789insCTAAAGGAAGAAAAAGCAAGTATCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA (p.Ile597LeufsTer25)
c.777_778insCTAAAGGAAGAAAAAGCAAGTATCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGAGATCCA (p.Ile260LeufsTer25)
 gnomAD v2 gnomAD v3 gnomAD v4
12g.101764913A=CA2058955606GNPTABc.2004T= (p.Asp668=)
c.1923T= (p.Asp641=)
c.1788T= (p.Asp596=)
c.777T= (p.Asp259=)
12g.101764913A>CCA386299210GNPTABc.2004T>G (p.Asp668Glu)
c.1923T>G (p.Asp641Glu)
c.1788T>G (p.Asp596Glu)
c.777T>G (p.Asp259Glu)
12g.101764913A>GCA481576980GNPTABc.2004T>C (p.Asp668=)
c.1923T>C (p.Asp641=)
c.1788T>C (p.Asp596=)
c.777T>C (p.Asp259=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101764913A>TCA386299211GNPTABc.2004T>A (p.Asp668Glu)
c.1923T>A (p.Asp641Glu)
c.1788T>A (p.Asp596Glu)
c.777T>A (p.Asp259Glu)
12g.101764914T>ACA386299212GNPTABc.2003A>T (p.Asp668Val)
c.1922A>T (p.Asp641Val)
c.1787A>T (p.Asp596Val)
c.776A>T (p.Asp259Val)
12g.101764914T>CCA386299213GNPTABc.2003A>G (p.Asp668Gly)
c.1922A>G (p.Asp641Gly)
c.1787A>G (p.Asp596Gly)
c.776A>G (p.Asp259Gly)
 gnomAD v4
12g.101764914T>GCA386299214GNPTABc.2003A>C (p.Asp668Ala)
c.1922A>C (p.Asp641Ala)
c.1787A>C (p.Asp596Ala)
c.776A>C (p.Asp259Ala)
12g.101764915C>ACA386299215GNPTABc.2002G>T (p.Asp668Tyr)
c.1921G>T (p.Asp641Tyr)
c.1786G>T (p.Asp596Tyr)
c.775G>T (p.Asp259Tyr)
 gnomAD v4
12g.101764915C>GCA386299216GNPTABc.2002G>C (p.Asp668His)
c.1921G>C (p.Asp641His)
c.1786G>C (p.Asp596His)
c.775G>C (p.Asp259His)
12g.101764915C>TCA386299217GNPTABc.2002G>A (p.Asp668Asn)
c.1921G>A (p.Asp641Asn)
c.1786G>A (p.Asp596Asn)
c.775G>A (p.Asp259Asn)
12g.101764916delCA951176038GNPTABc.2002del (p.Asp668IlefsTer26)
c.1921del (p.Asp641IlefsTer26)
c.1786del (p.Asp596IlefsTer26)
c.775del (p.Asp259IlefsTer26)
 gnomAD v3 gnomAD v4
12g.101764915_101764916insTCAATTTTTAATCAACAAATATCTATTGAGTCTCTACTACGTACAGGTATAATGTGAGCTTTGATACA607597817GNPTABc.2001_2002insTATCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGA
c.1920_1921insTATCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGA
c.1785_1786insTATCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGA
c.774_775insTATCAAAGCTCACATTATACCTGTACGTAGTAGAGACTCAATAGATATTTGTTGATTAAAAATTGA
 gnomAD v2
12g.101764916C>ACA386299218GNPTABc.2001G>T (p.Glu667Asp)
c.1920G>T (p.Glu640Asp)
c.1785G>T (p.Glu595Asp)
c.774G>T (p.Glu258Asp)
12g.101764916C>GCA386299219GNPTABc.2001G>C (p.Glu667Asp)
c.1920G>C (p.Glu640Asp)
c.1785G>C (p.Glu595Asp)
c.774G>C (p.Glu258Asp)
12g.101764916C>TCA481576981GNPTABc.2001G>A (p.Glu667=)
c.1920G>A (p.Glu640=)
c.1785G>A (p.Glu595=)
c.774G>A (p.Glu258=)
12g.101764917T>ACA386299222GNPTABc.2000A>T (p.Glu667Val)
c.1919A>T (p.Glu640Val)
c.1784A>T (p.Glu595Val)
c.773A>T (p.Glu258Val)
12g.101764917T>CCA386299221GNPTABc.2000A>G (p.Glu667Gly)
c.1919A>G (p.Glu640Gly)
c.1784A>G (p.Glu595Gly)
c.773A>G (p.Glu258Gly)
12g.101764917T>GCA386299220GNPTABc.2000A>C (p.Glu667Ala)
c.1919A>C (p.Glu640Ala)
c.1784A>C (p.Glu595Ala)
c.773A>C (p.Glu258Ala)
12g.101764917T=CA2058955607GNPTABc.2000A= (p.Glu667=)
c.1919A= (p.Glu640=)
c.1784A= (p.Glu595=)
c.773A= (p.Glu258=)
12g.101764917_101764918insACA343364GNPTABc.1999_2000insT (p.Glu667ValfsTer13)
c.1918_1919insT (p.Glu640ValfsTer13)
c.1783_1784insT (p.Glu595ValfsTer13)
c.772_773insT (p.Glu258ValfsTer13)
 ClinVar dbSNP
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

Number of alleles fetched