Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51807183A>CCA480062249SCN8Ac.5697A>C (p.Ala1899=)
c.5574A>C (p.Ala1858=)
c.5730A>C (p.Ala1910=)
12g.51807183A>GCA480062250SCN8Ac.5697A>G (p.Ala1899=)
c.5574A>G (p.Ala1858=)
c.5730A>G (p.Ala1910=)
 gnomAD v4
12g.51807183A>TCA480062252SCN8Ac.5697A>T (p.Ala1899=)
c.5574A>T (p.Ala1858=)
c.5730A>T (p.Ala1910=)
12g.51807184G>ACA384888660SCN8Ac.5698G>A (p.Val1900Met)
c.5575G>A (p.Val1859Met)
c.5731G>A (p.Val1911Met)
 gnomAD v4
12g.51807184G>CCA384888663SCN8Ac.5698G>C (p.Val1900Leu)
c.5575G>C (p.Val1859Leu)
c.5731G>C (p.Val1911Leu)
12g.51807184G>TCA384888665SCN8Ac.5698G>T (p.Val1900Leu)
c.5575G>T (p.Val1859Leu)
c.5731G>T (p.Val1911Leu)
 COSMIC COSMIC
12g.51807185T>ACA384888677SCN8Ac.5699T>A (p.Val1900Glu)
c.5576T>A (p.Val1859Glu)
c.5732T>A (p.Val1911Glu)
12g.51807185T>CCA16619567SCN8Ac.5699T>C (p.Val1900Ala)
c.5576T>C (p.Val1859Ala)
c.5732T>C (p.Val1911Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51807185T>GCA384888670SCN8Ac.5699T>G (p.Val1900Gly)
c.5576T>G (p.Val1859Gly)
c.5732T>G (p.Val1911Gly)
 dbSNP
12g.51807185T=CA2036194804SCN8Ac.5699T= (p.Val1900=)
c.5576T= (p.Val1859=)
c.5732T= (p.Val1911=)
12g.51807186G>ACA480062253SCN8Ac.5700G>A (p.Val1900=)
c.5577G>A (p.Val1859=)
c.5733G>A (p.Val1911=)
12g.51807186G>CCA480062257SCN8Ac.5700G>C (p.Val1900=)
c.5577G>C (p.Val1859=)
c.5733G>C (p.Val1911=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807186G=CA2036194807SCN8Ac.5700G= (p.Val1900=)
c.5577G= (p.Val1859=)
c.5733G= (p.Val1911=)
12g.51807186G>TCA480062254SCN8Ac.5700G>T (p.Val1900=)
c.5577G>T (p.Val1859=)
c.5733G>T (p.Val1911=)
12g.51807187_51807197dupCA2618842275SCN8Ac.5701_5711dup (p.Ala1905SerfsTer?)
c.5578_5588dup (p.Ala1864SerfsTer?)
c.5734_5744dup (p.Ala1916SerfsTer?)
 gnomAD v4
12g.51807187G>ACA384888681SCN8Ac.5701G>A (p.Val1901Ile)
c.5578G>A (p.Val1860Ile)
c.5734G>A (p.Val1912Ile)
 COSMIC COSMIC
12g.51807187G>CCA384888690SCN8Ac.5701G>C (p.Val1901Leu)
c.5578G>C (p.Val1860Leu)
c.5734G>C (p.Val1912Leu)
12g.51807187G>TCA384888693SCN8Ac.5701G>T (p.Val1901Phe)
c.5578G>T (p.Val1860Phe)
c.5734G>T (p.Val1912Phe)
12g.51807188T>ACA384888696SCN8Ac.5702T>A (p.Val1901Asp)
c.5579T>A (p.Val1860Asp)
c.5735T>A (p.Val1912Asp)
12g.51807188T>CCA384888700SCN8Ac.5702T>C (p.Val1901Ala)
c.5579T>C (p.Val1860Ala)
c.5735T>C (p.Val1912Ala)
12g.51807188T>GCA384888703SCN8Ac.5702T>G (p.Val1901Gly)
c.5579T>G (p.Val1860Gly)
c.5735T>G (p.Val1912Gly)
12g.51807189C>ACA480062264SCN8Ac.5703C>A (p.Val1901=)
c.5580C>A (p.Val1860=)
c.5736C>A (p.Val1912=)
12g.51807189C>GCA480062265SCN8Ac.5703C>G (p.Val1901=)
c.5580C>G (p.Val1860=)
c.5736C>G (p.Val1912=)
12g.51807189C>TCA480062266SCN8Ac.5703C>T (p.Val1901=)
c.5580C>T (p.Val1860=)
c.5736C>T (p.Val1912=)
12g.51807190C>ACA384888711SCN8Ac.5704C>A (p.Leu1902Met)
c.5581C>A (p.Leu1861Met)
c.5737C>A (p.Leu1913Met)
12g.51807190C>GCA384888708SCN8Ac.5704C>G (p.Leu1902Val)
c.5581C>G (p.Leu1861Val)
c.5737C>G (p.Leu1913Val)
12g.51807190C>TCA480062268SCN8Ac.5704C>T (p.Leu1902=)
c.5581C>T (p.Leu1861=)
c.5737C>T (p.Leu1913=)
12g.51807191T>ACA384888714SCN8Ac.5705T>A (p.Leu1902Gln)
c.5582T>A (p.Leu1861Gln)
c.5738T>A (p.Leu1913Gln)
12g.51807191T>CCA384888718SCN8Ac.5705T>C (p.Leu1902Pro)
c.5582T>C (p.Leu1861Pro)
c.5738T>C (p.Leu1913Pro)
12g.51807191T>GCA384888724SCN8Ac.5705T>G (p.Leu1902Arg)
c.5582T>G (p.Leu1861Arg)
c.5738T>G (p.Leu1913Arg)
12g.51807192G>ACA480062272SCN8Ac.5706G>A (p.Leu1902=)
c.5583G>A (p.Leu1861=)
c.5739G>A (p.Leu1913=)
12g.51807192G>CCA480062273SCN8Ac.5706G>C (p.Leu1902=)
c.5583G>C (p.Leu1861=)
c.5739G>C (p.Leu1913=)
12g.51807192G>TCA480062274SCN8Ac.5706G>T (p.Leu1902=)
c.5583G>T (p.Leu1861=)
c.5739G>T (p.Leu1913=)
12g.51807193C>ACA384888727SCN8Ac.5707C>A (p.Gln1903Lys)
c.5584C>A (p.Gln1862Lys)
c.5740C>A (p.Gln1914Lys)
12g.51807193C>GCA384888730SCN8Ac.5707C>G (p.Gln1903Glu)
c.5584C>G (p.Gln1862Glu)
c.5740C>G (p.Gln1914Glu)
12g.51807193C>TCA384888732SCN8Ac.5707C>T (p.Gln1903Ter)
c.5584C>T (p.Gln1862Ter)
c.5740C>T (p.Gln1914Ter)
12g.51807194A>CCA384888736SCN8Ac.5708A>C (p.Gln1903Pro)
c.5585A>C (p.Gln1862Pro)
c.5741A>C (p.Gln1914Pro)
12g.51807194A>GCA384888743SCN8Ac.5708A>G (p.Gln1903Arg)
c.5585A>G (p.Gln1862Arg)
c.5741A>G (p.Gln1914Arg)
12g.51807194A>TCA384888740SCN8Ac.5708A>T (p.Gln1903Leu)
c.5585A>T (p.Gln1862Leu)
c.5741A>T (p.Gln1914Leu)
12g.51807195G>ACA480062275SCN8Ac.5709G>A (p.Gln1903=)
c.5586G>A (p.Gln1862=)
c.5742G>A (p.Gln1914=)
12g.51807195G>CCA384888745SCN8Ac.5709G>C (p.Gln1903His)
c.5586G>C (p.Gln1862His)
c.5742G>C (p.Gln1914His)
12g.51807195G>TCA384888746SCN8Ac.5709G>T (p.Gln1903His)
c.5586G>T (p.Gln1862His)
c.5742G>T (p.Gln1914His)
12g.51807196C>ACA384888747SCN8Ac.5710C>A (p.Arg1904Ser)
c.5587C>A (p.Arg1863Ser)
c.5743C>A (p.Arg1915Ser)
12g.51807196C=CA2036194812SCN8Ac.5710C= (p.Arg1904=)
c.5587C= (p.Arg1863=)
c.5743C= (p.Arg1915=)
12g.51807196C>GCA384888748SCN8Ac.5710C>G (p.Arg1904Gly)
c.5587C>G (p.Arg1863Gly)
c.5743C>G (p.Arg1915Gly)
12g.51807196C>TCA6571941SCN8Ac.5710C>T (p.Arg1904Cys)
c.5587C>T (p.Arg1863Cys)
c.5743C>T (p.Arg1915Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807197G>ACA6571942SCN8Ac.5711G>A (p.Arg1904His)
c.5588G>A (p.Arg1863His)
c.5744G>A (p.Arg1915His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.51807197G>CCA384888760SCN8Ac.5711G>C (p.Arg1904Pro)
c.5588G>C (p.Arg1863Pro)
c.5744G>C (p.Arg1915Pro)
12g.51807197G=CA2036194827SCN8Ac.5711G= (p.Arg1904=)
c.5588G= (p.Arg1863=)
c.5744G= (p.Arg1915=)
12g.51807197G>TCA384888763SCN8Ac.5711G>T (p.Arg1904Leu)
c.5588G>T (p.Arg1863Leu)
c.5744G>T (p.Arg1915Leu)
12g.51807198T>ACA480062280SCN8Ac.5712T>A (p.Arg1904=)
c.5589T>A (p.Arg1863=)
c.5745T>A (p.Arg1915=)
12g.51807198T>CCA480062281SCN8Ac.5712T>C (p.Arg1904=)
c.5589T>C (p.Arg1863=)
c.5745T>C (p.Arg1915=)
12g.51807198T>GCA480062282SCN8Ac.5712T>G (p.Arg1904=)
c.5589T>G (p.Arg1863=)
c.5745T>G (p.Arg1915=)
12g.51807199G>ACA384888767SCN8Ac.5713G>A (p.Ala1905Thr)
c.5590G>A (p.Ala1864Thr)
c.5746G>A (p.Ala1916Thr)
 ClinVar
12g.51807199G>CCA384888771SCN8Ac.5713G>C (p.Ala1905Pro)
c.5590G>C (p.Ala1864Pro)
c.5746G>C (p.Ala1916Pro)
12g.51807199G=CA2036194830SCN8Ac.5713G= (p.Ala1905=)
c.5590G= (p.Ala1864=)
c.5746G= (p.Ala1916=)
12g.51807199G>TCA384888784SCN8Ac.5713G>T (p.Ala1905Ser)
c.5590G>T (p.Ala1864Ser)
c.5746G>T (p.Ala1916Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.51807200C>ACA384888807SCN8Ac.5714C>A (p.Ala1905Asp)
c.5591C>A (p.Ala1864Asp)
c.5747C>A (p.Ala1916Asp)
12g.51807200C>GCA384888806SCN8Ac.5714C>G (p.Ala1905Gly)
c.5591C>G (p.Ala1864Gly)
c.5747C>G (p.Ala1916Gly)
 gnomAD v4
12g.51807200C>TCA384888798SCN8Ac.5714C>T (p.Ala1905Val)
c.5591C>T (p.Ala1864Val)
c.5747C>T (p.Ala1916Val)
12g.51807201C>ACA480062283SCN8Ac.5715C>A (p.Ala1905=)
c.5592C>A (p.Ala1864=)
c.5748C>A (p.Ala1916=)
12g.51807201C>GCA480062285SCN8Ac.5715C>G (p.Ala1905=)
c.5592C>G (p.Ala1864=)
c.5748C>G (p.Ala1916=)
12g.51807201C>TCA480062286SCN8Ac.5715C>T (p.Ala1905=)
c.5592C>T (p.Ala1864=)
c.5748C>T (p.Ala1916=)
12g.51807202T>ACA384888813SCN8Ac.5716T>A (p.Tyr1906Asn)
c.5593T>A (p.Tyr1865Asn)
c.5749T>A (p.Tyr1917Asn)
12g.51807202T>CCA384888816SCN8Ac.5716T>C (p.Tyr1906His)
c.5593T>C (p.Tyr1865His)
c.5749T>C (p.Tyr1917His)
12g.51807202T>GCA384888820SCN8Ac.5716T>G (p.Tyr1906Asp)
c.5593T>G (p.Tyr1865Asp)
c.5749T>G (p.Tyr1917Asp)
12g.51807203A>CCA384888823SCN8Ac.5717A>C (p.Tyr1906Ser)
c.5594A>C (p.Tyr1865Ser)
c.5750A>C (p.Tyr1917Ser)
12g.51807203A>GCA384888826SCN8Ac.5717A>G (p.Tyr1906Cys)
c.5594A>G (p.Tyr1865Cys)
c.5750A>G (p.Tyr1917Cys)
12g.51807203A>TCA384888829SCN8Ac.5717A>T (p.Tyr1906Phe)
c.5594A>T (p.Tyr1865Phe)
c.5750A>T (p.Tyr1917Phe)
12g.51807204C>ACA384888842SCN8Ac.5718C>A (p.Tyr1906Ter)
c.5595C>A (p.Tyr1865Ter)
c.5751C>A (p.Tyr1917Ter)
12g.51807204C=CA2036194833SCN8Ac.5718C= (p.Tyr1906=)
c.5595C= (p.Tyr1865=)
c.5751C= (p.Tyr1917=)
12g.51807204C>GCA384888835SCN8Ac.5718C>G (p.Tyr1906Ter)
c.5595C>G (p.Tyr1865Ter)
c.5751C>G (p.Tyr1917Ter)
12g.51807204C>TCA236327797SCN8Ac.5718C>T (p.Tyr1906=)
c.5595C>T (p.Tyr1865=)
c.5751C>T (p.Tyr1917=)
 ClinVar dbSNP gnomAD v4
12g.51807205C>ACA480062294SCN8Ac.5719C>A (p.Arg1907=)
c.5596C>A (p.Arg1866=)
c.5752C>A (p.Arg1918=)
 gnomAD v4
12g.51807205C=CA2036194834SCN8Ac.5719C= (p.Arg1907=)
c.5596C= (p.Arg1866=)
c.5752C= (p.Arg1918=)
12g.51807205C>GCA384888859SCN8Ac.5719C>G (p.Arg1907Gly)
c.5596C>G (p.Arg1866Gly)
c.5752C>G (p.Arg1918Gly)
 gnomAD v4
12g.51807205C>TCA6571943SCN8Ac.5719C>T (p.Arg1907Trp)
c.5596C>T (p.Arg1866Trp)
c.5752C>T (p.Arg1918Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807206G>ACA384888867SCN8Ac.5720G>A (p.Arg1907Gln)
c.5597G>A (p.Arg1866Gln)
c.5753G>A (p.Arg1918Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51807206G>CCA384888885SCN8Ac.5720G>C (p.Arg1907Pro)
c.5597G>C (p.Arg1866Pro)
c.5753G>C (p.Arg1918Pro)
12g.51807206G=CA2036194838SCN8Ac.5720G= (p.Arg1907=)
c.5597G= (p.Arg1866=)
c.5753G= (p.Arg1918=)
12g.51807206G>TCA384888887SCN8Ac.5720G>T (p.Arg1907Leu)
c.5597G>T (p.Arg1866Leu)
c.5753G>T (p.Arg1918Leu)
12g.51807207G>ACA6571944SCN8Ac.5721G>A (p.Arg1907=)
c.5598G>A (p.Arg1866=)
c.5754G>A (p.Arg1918=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807207G>CCA480062297SCN8Ac.5721G>C (p.Arg1907=)
c.5598G>C (p.Arg1866=)
c.5754G>C (p.Arg1918=)
12g.51807207G=CA2036194841SCN8Ac.5721G= (p.Arg1907=)
c.5598G= (p.Arg1866=)
c.5754G= (p.Arg1918=)
12g.51807207G>TCA480062295SCN8Ac.5721G>T (p.Arg1907=)
c.5598G>T (p.Arg1866=)
c.5754G>T (p.Arg1918=)
12g.51807208G>ACA6571945SCN8Ac.5722G>A (p.Gly1908Arg)
c.5599G>A (p.Gly1867Arg)
c.5755G>A (p.Gly1919Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807208G>CCA384888909SCN8Ac.5722G>C (p.Gly1908Arg)
c.5599G>C (p.Gly1867Arg)
c.5755G>C (p.Gly1919Arg)
12g.51807208G=CA2036194842SCN8Ac.5722G= (p.Gly1908=)
c.5599G= (p.Gly1867=)
c.5755G= (p.Gly1919=)
12g.51807208G>TCA384888913SCN8Ac.5722G>T (p.Gly1908Ter)
c.5599G>T (p.Gly1867Ter)
c.5755G>T (p.Gly1919Ter)
 dbSNP
12g.51807209G>ACA384888921SCN8Ac.5723G>A (p.Gly1908Glu)
c.5600G>A (p.Gly1867Glu)
c.5756G>A (p.Gly1919Glu)
12g.51807209G>CCA384888926SCN8Ac.5723G>C (p.Gly1908Ala)
c.5600G>C (p.Gly1867Ala)
c.5756G>C (p.Gly1919Ala)
12g.51807209G>TCA384888931SCN8Ac.5723G>T (p.Gly1908Val)
c.5600G>T (p.Gly1867Val)
c.5756G>T (p.Gly1919Val)
12g.51807210A>CCA480062302SCN8Ac.5724A>C (p.Gly1908=)
c.5601A>C (p.Gly1867=)
c.5757A>C (p.Gly1919=)
12g.51807210A>GCA480062304SCN8Ac.5724A>G (p.Gly1908=)
c.5601A>G (p.Gly1867=)
c.5757A>G (p.Gly1919=)
12g.51807210A>TCA480062306SCN8Ac.5724A>T (p.Gly1908=)
c.5601A>T (p.Gly1867=)
c.5757A>T (p.Gly1919=)
12g.51807211C>ACA384888934SCN8Ac.5725C>A (p.His1909Asn)
c.5602C>A (p.His1868Asn)
c.5758C>A (p.His1920Asn)
12g.51807211C=CA2036194848SCN8Ac.5725C= (p.His1909=)
c.5602C= (p.His1868=)
c.5758C= (p.His1920=)
12g.51807211C>GCA384888936SCN8Ac.5725C>G (p.His1909Asp)
c.5602C>G (p.His1868Asp)
c.5758C>G (p.His1920Asp)
12g.51807211C>TCA6571946SCN8Ac.5725C>T (p.His1909Tyr)
c.5602C>T (p.His1868Tyr)
c.5758C>T (p.His1920Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807212A=CA2036194853SCN8Ac.5726A= (p.His1909=)
c.5603A= (p.His1868=)
c.5759A= (p.His1920=)
12g.51807212A>CCA384888941SCN8Ac.5726A>C (p.His1909Pro)
c.5603A>C (p.His1868Pro)
c.5759A>C (p.His1920Pro)
12g.51807212A>GCA384888942SCN8Ac.5726A>G (p.His1909Arg)
c.5603A>G (p.His1868Arg)
c.5759A>G (p.His1920Arg)
 dbSNP gnomAD v4
12g.51807212A>TCA384888945SCN8Ac.5726A>T (p.His1909Leu)
c.5603A>T (p.His1868Leu)
c.5759A>T (p.His1920Leu)
12g.51807213T>ACA384888948SCN8Ac.5727T>A (p.His1909Gln)
c.5604T>A (p.His1868Gln)
c.5760T>A (p.His1920Gln)
12g.51807213T>CCA480062310SCN8Ac.5727T>C (p.His1909=)
c.5604T>C (p.His1868=)
c.5760T>C (p.His1920=)
12g.51807213T>GCA384888950SCN8Ac.5727T>G (p.His1909Gln)
c.5604T>G (p.His1868Gln)
c.5760T>G (p.His1920Gln)
12g.51807214T>ACA384888953SCN8Ac.5728T>A (p.Leu1910Met)
c.5605T>A (p.Leu1869Met)
c.5761T>A (p.Leu1921Met)
12g.51807214T>CCA480062311SCN8Ac.5728T>C (p.Leu1910=)
c.5605T>C (p.Leu1869=)
c.5761T>C (p.Leu1921=)
12g.51807214T>GCA384888957SCN8Ac.5728T>G (p.Leu1910Val)
c.5605T>G (p.Leu1869Val)
c.5761T>G (p.Leu1921Val)
12g.51807215T>ACA384888983SCN8Ac.5729T>A (p.Leu1910Ter)
c.5606T>A (p.Leu1869Ter)
c.5762T>A (p.Leu1921Ter)
 dbSNP
12g.51807215T>CCA384888961SCN8Ac.5729T>C (p.Leu1910Ser)
c.5606T>C (p.Leu1869Ser)
c.5762T>C (p.Leu1921Ser)
12g.51807215T>GCA384888964SCN8Ac.5729T>G (p.Leu1910Trp)
c.5606T>G (p.Leu1869Trp)
c.5762T>G (p.Leu1921Trp)
12g.51807215T=CA2036194858SCN8Ac.5729T= (p.Leu1910=)
c.5606T= (p.Leu1869=)
c.5762T= (p.Leu1921=)
12g.51807216G>ACA480062106SCN8Ac.5730G>A (p.Leu1910=)
c.5607G>A (p.Leu1869=)
c.5763G>A (p.Leu1921=)
12g.51807216G>CCA384888988SCN8Ac.5730G>C (p.Leu1910Phe)
c.5607G>C (p.Leu1869Phe)
c.5763G>C (p.Leu1921Phe)
12g.51807216G>TCA384888992SCN8Ac.5730G>T (p.Leu1910Phe)
c.5607G>T (p.Leu1869Phe)
c.5763G>T (p.Leu1921Phe)
12g.51807217G>ACA384888996SCN8Ac.5731G>A (p.Ala1911Thr)
c.5608G>A (p.Ala1870Thr)
c.5764G>A (p.Ala1922Thr)
12g.51807217G>CCA384889005SCN8Ac.5731G>C (p.Ala1911Pro)
c.5608G>C (p.Ala1870Pro)
c.5764G>C (p.Ala1922Pro)
12g.51807217G>TCA384889008SCN8Ac.5731G>T (p.Ala1911Ser)
c.5608G>T (p.Ala1870Ser)
c.5764G>T (p.Ala1922Ser)
12g.51807218C>ACA384889011SCN8Ac.5732C>A (p.Ala1911Glu)
c.5609C>A (p.Ala1870Glu)
c.5765C>A (p.Ala1922Glu)
12g.51807218C>GCA384889012SCN8Ac.5732C>G (p.Ala1911Gly)
c.5609C>G (p.Ala1870Gly)
c.5765C>G (p.Ala1922Gly)
12g.51807218C>TCA384889013SCN8Ac.5732C>T (p.Ala1911Val)
c.5609C>T (p.Ala1870Val)
c.5765C>T (p.Ala1922Val)
12g.51807219A>CCA480062114SCN8Ac.5733A>C (p.Ala1911=)
c.5610A>C (p.Ala1870=)
c.5766A>C (p.Ala1922=)
12g.51807219A>GCA480062115SCN8Ac.5733A>G (p.Ala1911=)
c.5610A>G (p.Ala1870=)
c.5766A>G (p.Ala1922=)
12g.51807219A>TCA480062117SCN8Ac.5733A>T (p.Ala1911=)
c.5610A>T (p.Ala1870=)
c.5766A>T (p.Ala1922=)
12g.51807220A>CCA480062118SCN8Ac.5734A>C (p.Arg1912=)
c.5611A>C (p.Arg1871=)
c.5767A>C (p.Arg1923=)
12g.51807220A>GCA384889014SCN8Ac.5734A>G (p.Arg1912Gly)
c.5611A>G (p.Arg1871Gly)
c.5767A>G (p.Arg1923Gly)
12g.51807220A>TCA384889015SCN8Ac.5734A>T (p.Arg1912Trp)
c.5611A>T (p.Arg1871Trp)
c.5767A>T (p.Arg1923Trp)
12g.51807221G>ACA6571947SCN8Ac.5735G>A (p.Arg1912Lys)
c.5612G>A (p.Arg1871Lys)
c.5768G>A (p.Arg1923Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807221G>CCA384889019SCN8Ac.5735G>C (p.Arg1912Thr)
c.5612G>C (p.Arg1871Thr)
c.5768G>C (p.Arg1923Thr)
12g.51807221G=CA2036194861SCN8Ac.5735G= (p.Arg1912=)
c.5612G= (p.Arg1871=)
c.5768G= (p.Arg1923=)
12g.51807221G>TCA384889023SCN8Ac.5735G>T (p.Arg1912Met)
c.5612G>T (p.Arg1871Met)
c.5768G>T (p.Arg1923Met)
12g.51807222G>ACA480062128SCN8Ac.5736G>A (p.Arg1912=)
c.5613G>A (p.Arg1871=)
c.5769G>A (p.Arg1923=)
 dbSNP gnomAD v3 gnomAD v4
12g.51807222G>CCA384889024SCN8Ac.5736G>C (p.Arg1912Ser)
c.5613G>C (p.Arg1871Ser)
c.5769G>C (p.Arg1923Ser)
12g.51807222G=CA2036194864SCN8Ac.5736G= (p.Arg1912=)
c.5613G= (p.Arg1871=)
c.5769G= (p.Arg1923=)
12g.51807222G>TCA384889025SCN8Ac.5736G>T (p.Arg1912Ser)
c.5613G>T (p.Arg1871Ser)
c.5769G>T (p.Arg1923Ser)
12g.51807223C>ACA480062131SCN8Ac.5737C>A (p.Arg1913=)
c.5614C>A (p.Arg1872=)
c.5770C>A (p.Arg1924=)
12g.51807223C=CA2036194871SCN8Ac.5737C= (p.Arg1913=)
c.5614C= (p.Arg1872=)
c.5770C= (p.Arg1924=)
12g.51807223C>GCA384889026SCN8Ac.5737C>G (p.Arg1913Gly)
c.5614C>G (p.Arg1872Gly)
c.5770C>G (p.Arg1924Gly)
12g.51807223C>TCA384889027SCN8Ac.5737C>T (p.Arg1913Trp)
c.5614C>T (p.Arg1872Trp)
c.5770C>T (p.Arg1924Trp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51807224G>ACA384889029SCN8Ac.5738G>A (p.Arg1913Gln)
c.5615G>A (p.Arg1872Gln)
c.5771G>A (p.Arg1924Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.51807224G>CCA384889030SCN8Ac.5738G>C (p.Arg1913Pro)
c.5615G>C (p.Arg1872Pro)
c.5771G>C (p.Arg1924Pro)
12g.51807224G=CA2036194874SCN8Ac.5738G= (p.Arg1913=)
c.5615G= (p.Arg1872=)
c.5771G= (p.Arg1924=)
12g.51807224G>TCA384889032SCN8Ac.5738G>T (p.Arg1913Leu)
c.5615G>T (p.Arg1872Leu)
c.5771G>T (p.Arg1924Leu)
12g.51807225G>ACA480062141SCN8Ac.5739G>A (p.Arg1913=)
c.5616G>A (p.Arg1872=)
c.5772G>A (p.Arg1924=)
 dbSNP gnomAD v3 gnomAD v4
12g.51807225G>CCA480062143SCN8Ac.5739G>C (p.Arg1913=)
c.5616G>C (p.Arg1872=)
c.5772G>C (p.Arg1924=)
12g.51807225G=CA2036194879SCN8Ac.5739G= (p.Arg1913=)
c.5616G= (p.Arg1872=)
c.5772G= (p.Arg1924=)
12g.51807225G>TCA480062144SCN8Ac.5739G>T (p.Arg1913=)
c.5616G>T (p.Arg1872=)
c.5772G>T (p.Arg1924=)
12g.51807226G>ACA384889034SCN8Ac.5740G>A (p.Gly1914Ser)
c.5617G>A (p.Gly1873Ser)
c.5773G>A (p.Gly1925Ser)
 ClinVar gnomAD v4
12g.51807226G>CCA384889036SCN8Ac.5740G>C (p.Gly1914Arg)
c.5617G>C (p.Gly1873Arg)
c.5773G>C (p.Gly1925Arg)
12g.51807226G>TCA384889039SCN8Ac.5740G>T (p.Gly1914Cys)
c.5617G>T (p.Gly1873Cys)
c.5773G>T (p.Gly1925Cys)
 ClinVar dbSNP
12g.51807227G>ACA384889047SCN8Ac.5741G>A (p.Gly1914Asp)
c.5618G>A (p.Gly1873Asp)
c.5774G>A (p.Gly1925Asp)
 ClinVar
12g.51807227G>CCA384889050SCN8Ac.5741G>C (p.Gly1914Ala)
c.5618G>C (p.Gly1873Ala)
c.5774G>C (p.Gly1925Ala)
12g.51807227G>TCA384889052SCN8Ac.5741G>T (p.Gly1914Val)
c.5618G>T (p.Gly1873Val)
c.5774G>T (p.Gly1925Val)
12g.51807228C>ACA480062153SCN8Ac.5742C>A (p.Gly1914=)
c.5619C>A (p.Gly1873=)
c.5775C>A (p.Gly1925=)
12g.51807228C>GCA480062154SCN8Ac.5742C>G (p.Gly1914=)
c.5619C>G (p.Gly1873=)
c.5775C>G (p.Gly1925=)
12g.51807228C>TCA480062155SCN8Ac.5742C>T (p.Gly1914=)
c.5619C>T (p.Gly1873=)
c.5775C>T (p.Gly1925=)
12g.51807229T>ACA384889058SCN8Ac.5743T>A (p.Phe1915Ile)
c.5620T>A (p.Phe1874Ile)
c.5776T>A (p.Phe1926Ile)
12g.51807229T>CCA384889060SCN8Ac.5743T>C (p.Phe1915Leu)
c.5620T>C (p.Phe1874Leu)
c.5776T>C (p.Phe1926Leu)
12g.51807229T>GCA384889062SCN8Ac.5743T>G (p.Phe1915Val)
c.5620T>G (p.Phe1874Val)
c.5776T>G (p.Phe1926Val)
12g.51807230T>ACA384889065SCN8Ac.5744T>A (p.Phe1915Tyr)
c.5621T>A (p.Phe1874Tyr)
c.5777T>A (p.Phe1926Tyr)
12g.51807230T>CCA384889072SCN8Ac.5744T>C (p.Phe1915Ser)
c.5621T>C (p.Phe1874Ser)
c.5777T>C (p.Phe1926Ser)
 ClinVar dbSNP
12g.51807230T>GCA384889068SCN8Ac.5744T>G (p.Phe1915Cys)
c.5621T>G (p.Phe1874Cys)
c.5777T>G (p.Phe1926Cys)
12g.51807231C>ACA384889078SCN8Ac.5745C>A (p.Phe1915Leu)
c.5622C>A (p.Phe1874Leu)
c.5778C>A (p.Phe1926Leu)
12g.51807231C=CA2036194881SCN8Ac.5745C= (p.Phe1915=)
c.5622C= (p.Phe1874=)
c.5778C= (p.Phe1926=)
12g.51807231C>GCA384889082SCN8Ac.5745C>G (p.Phe1915Leu)
c.5622C>G (p.Phe1874Leu)
c.5778C>G (p.Phe1926Leu)
12g.51807231C>TCA6571948SCN8Ac.5745C>T (p.Phe1915=)
c.5622C>T (p.Phe1874=)
c.5778C>T (p.Phe1926=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807232A>CCA384889088SCN8Ac.5746A>C (p.Ile1916Leu)
c.5623A>C (p.Ile1875Leu)
c.5779A>C (p.Ile1927Leu)
 dbSNP
12g.51807232A>GCA384889091SCN8Ac.5746A>G (p.Ile1916Val)
c.5623A>G (p.Ile1875Val)
c.5779A>G (p.Ile1927Val)
12g.51807232A>TCA384889093SCN8Ac.5746A>T (p.Ile1916Phe)
c.5623A>T (p.Ile1875Phe)
c.5779A>T (p.Ile1927Phe)
12g.51807233T>ACA384889097SCN8Ac.5747T>A (p.Ile1916Asn)
c.5624T>A (p.Ile1875Asn)
c.5780T>A (p.Ile1927Asn)
12g.51807233T>CCA384889099SCN8Ac.5747T>C (p.Ile1916Thr)
c.5624T>C (p.Ile1875Thr)
c.5780T>C (p.Ile1927Thr)
12g.51807233T>GCA384889100SCN8Ac.5747T>G (p.Ile1916Ser)
c.5624T>G (p.Ile1875Ser)
c.5780T>G (p.Ile1927Ser)
12g.51807234C>ACA480062171SCN8Ac.5748C>A (p.Ile1916=)
c.5625C>A (p.Ile1875=)
c.5781C>A (p.Ile1927=)
12g.51807234C=CA2036194883SCN8Ac.5748C= (p.Ile1916=)
c.5625C= (p.Ile1875=)
c.5781C= (p.Ile1927=)
12g.51807234C>GCA384889104SCN8Ac.5748C>G (p.Ile1916Met)
c.5625C>G (p.Ile1875Met)
c.5781C>G (p.Ile1927Met)
 dbSNP gnomAD v3 gnomAD v4
12g.51807234C>TCA480062173SCN8Ac.5748C>T (p.Ile1916=)
c.5625C>T (p.Ile1875=)
c.5781C>T (p.Ile1927=)
 ClinVar dbSNP gnomAD v4
12g.51807235T>ACA384889105SCN8Ac.5749T>A (p.Cys1917Ser)
c.5626T>A (p.Cys1876Ser)
c.5782T>A (p.Cys1928Ser)
12g.51807235T>CCA384889106SCN8Ac.5749T>C (p.Cys1917Arg)
c.5626T>C (p.Cys1876Arg)
c.5782T>C (p.Cys1928Arg)
12g.51807235T>GCA384889108SCN8Ac.5749T>G (p.Cys1917Gly)
c.5626T>G (p.Cys1876Gly)
c.5782T>G (p.Cys1928Gly)
12g.51807236G>ACA384889113SCN8Ac.5750G>A (p.Cys1917Tyr)
c.5627G>A (p.Cys1876Tyr)
c.5783G>A (p.Cys1928Tyr)
12g.51807236G>CCA384889117SCN8Ac.5750G>C (p.Cys1917Ser)
c.5627G>C (p.Cys1876Ser)
c.5783G>C (p.Cys1928Ser)
12g.51807236G>TCA384889118SCN8Ac.5750G>T (p.Cys1917Phe)
c.5627G>T (p.Cys1876Phe)
c.5783G>T (p.Cys1928Phe)
12g.51807237C>ACA384889132SCN8Ac.5751C>A (p.Cys1917Ter)
c.5628C>A (p.Cys1876Ter)
c.5784C>A (p.Cys1928Ter)
 dbSNP
12g.51807237C=CA2036194888SCN8Ac.5751C= (p.Cys1917=)
c.5628C= (p.Cys1876=)
c.5784C= (p.Cys1928=)
12g.51807237C>GCA384889136SCN8Ac.5751C>G (p.Cys1917Trp)
c.5628C>G (p.Cys1876Trp)
c.5784C>G (p.Cys1928Trp)
12g.51807237C>TCA480062180SCN8Ac.5751C>T (p.Cys1917=)
c.5628C>T (p.Cys1876=)
c.5784C>T (p.Cys1928=)
 gnomAD v4
12g.51807238A=CA2036194894SCN8Ac.5752A= (p.Lys1918=)
c.5629A= (p.Lys1877=)
c.5785A= (p.Lys1929=)
12g.51807238A>CCA384889139SCN8Ac.5752A>C (p.Lys1918Gln)
c.5629A>C (p.Lys1877Gln)
c.5785A>C (p.Lys1929Gln)
12g.51807238A>GCA384889141SCN8Ac.5752A>G (p.Lys1918Glu)
c.5629A>G (p.Lys1877Glu)
c.5785A>G (p.Lys1929Glu)
12g.51807238A>TCA384889144SCN8Ac.5752A>T (p.Lys1918Ter)
c.5629A>T (p.Lys1877Ter)
c.5785A>T (p.Lys1929Ter)
 dbSNP
12g.51807239A>CCA384889148SCN8Ac.5753A>C (p.Lys1918Thr)
c.5630A>C (p.Lys1877Thr)
c.5786A>C (p.Lys1929Thr)
12g.51807239A>GCA384889151SCN8Ac.5753A>G (p.Lys1918Arg)
c.5630A>G (p.Lys1877Arg)
c.5786A>G (p.Lys1929Arg)
12g.51807239A>TCA384889154SCN8Ac.5753A>T (p.Lys1918Ile)
c.5630A>T (p.Lys1877Ile)
c.5786A>T (p.Lys1929Ile)
12g.51807240A=CA2036194897SCN8Ac.5754A= (p.Lys1918=)
c.5631A= (p.Lys1877=)
c.5787A= (p.Lys1929=)
12g.51807240A>CCA384889159SCN8Ac.5754A>C (p.Lys1918Asn)
c.5631A>C (p.Lys1877Asn)
c.5787A>C (p.Lys1929Asn)
12g.51807240A>GCA480062194SCN8Ac.5754A>G (p.Lys1918=)
c.5631A>G (p.Lys1877=)
c.5787A>G (p.Lys1929=)
 ClinVar dbSNP
12g.51807240A>TCA384889162SCN8Ac.5754A>T (p.Lys1918Asn)
c.5631A>T (p.Lys1877Asn)
c.5787A>T (p.Lys1929Asn)
12g.51807241A=CA2036194902SCN8Ac.5755A= (p.Lys1919=)
c.5632A= (p.Lys1878=)
c.5788A= (p.Lys1930=)
12g.51807241A>CCA384889166SCN8Ac.5755A>C (p.Lys1919Gln)
c.5632A>C (p.Lys1878Gln)
c.5788A>C (p.Lys1930Gln)
12g.51807241A>GCA384889169SCN8Ac.5755A>G (p.Lys1919Glu)
c.5632A>G (p.Lys1878Glu)
c.5788A>G (p.Lys1930Glu)
12g.51807241A>TCA384889171SCN8Ac.5755A>T (p.Lys1919Ter)
c.5632A>T (p.Lys1878Ter)
c.5788A>T (p.Lys1930Ter)
 dbSNP
12g.51807242A>CCA384889182SCN8Ac.5756A>C (p.Lys1919Thr)
c.5633A>C (p.Lys1878Thr)
c.5789A>C (p.Lys1930Thr)
12g.51807242A>GCA384889178SCN8Ac.5756A>G (p.Lys1919Arg)
c.5633A>G (p.Lys1878Arg)
c.5789A>G (p.Lys1930Arg)
12g.51807242A>TCA384889175SCN8Ac.5756A>T (p.Lys1919Met)
c.5633A>T (p.Lys1878Met)
c.5789A>T (p.Lys1930Met)
12g.51807243G>ACA6571949SCN8Ac.5757G>A (p.Lys1919=)
c.5634G>A (p.Lys1878=)
c.5790G>A (p.Lys1930=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807243G>CCA384889186SCN8Ac.5757G>C (p.Lys1919Asn)
c.5634G>C (p.Lys1878Asn)
c.5790G>C (p.Lys1930Asn)
12g.51807243G=CA2036194908SCN8Ac.5757G= (p.Lys1919=)
c.5634G= (p.Lys1878=)
c.5790G= (p.Lys1930=)
12g.51807243G>TCA384889189SCN8Ac.5757G>T (p.Lys1919Asn)
c.5634G>T (p.Lys1878Asn)
c.5790G>T (p.Lys1930Asn)
 dbSNP
12g.51807244A>CCA384889193SCN8Ac.5758A>C (p.Thr1920Pro)
c.5635A>C (p.Thr1879Pro)
c.5791A>C (p.Thr1931Pro)
 ClinVar dbSNP gnomAD v4
12g.51807244A>GCA384889211SCN8Ac.5758A>G (p.Thr1920Ala)
c.5635A>G (p.Thr1879Ala)
c.5791A>G (p.Thr1931Ala)
12g.51807244A>TCA384889214SCN8Ac.5758A>T (p.Thr1920Ser)
c.5635A>T (p.Thr1879Ser)
c.5791A>T (p.Thr1931Ser)
12g.51807245C>ACA384889217SCN8Ac.5759C>A (p.Thr1920Lys)
c.5636C>A (p.Thr1879Lys)
c.5792C>A (p.Thr1931Lys)
 dbSNP
12g.51807245C>GCA384889221SCN8Ac.5759C>G (p.Thr1920Arg)
c.5636C>G (p.Thr1879Arg)
c.5792C>G (p.Thr1931Arg)
 gnomAD v4
12g.51807245C>TCA384889225SCN8Ac.5759C>T (p.Thr1920Ile)
c.5636C>T (p.Thr1879Ile)
c.5792C>T (p.Thr1931Ile)
 gnomAD v4
12g.51807246A=CA2036194916SCN8Ac.5760A= (p.Thr1920=)
c.5637A= (p.Thr1879=)
c.5793A= (p.Thr1931=)
12g.51807246A>CCA6571950SCN8Ac.5760A>C (p.Thr1920=)
c.5637A>C (p.Thr1879=)
c.5793A>C (p.Thr1931=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807246A>GCA480062212SCN8Ac.5760A>G (p.Thr1920=)
c.5637A>G (p.Thr1879=)
c.5793A>G (p.Thr1931=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51807246A>TCA480062213SCN8Ac.5760A>T (p.Thr1920=)
c.5637A>T (p.Thr1879=)
c.5793A>T (p.Thr1931=)
12g.51807247A=CA2036194921SCN8Ac.5761A= (p.Thr1921=)
c.5638A= (p.Thr1880=)
c.5794A= (p.Thr1932=)
12g.51807247A>CCA318303SCN8Ac.5761A>C (p.Thr1921Pro)
c.5638A>C (p.Thr1880Pro)
c.5794A>C (p.Thr1932Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807247A>GCA6571951SCN8Ac.5761A>G (p.Thr1921Ala)
c.5638A>G (p.Thr1880Ala)
c.5794A>G (p.Thr1932Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807247A>TCA384889231SCN8Ac.5761A>T (p.Thr1921Ser)
c.5638A>T (p.Thr1880Ser)
c.5794A>T (p.Thr1932Ser)
12g.51807248C>ACA384889246SCN8Ac.5762C>A (p.Thr1921Asn)
c.5639C>A (p.Thr1880Asn)
c.5795C>A (p.Thr1932Asn)
 gnomAD v4
12g.51807248C>GCA384889235SCN8Ac.5762C>G (p.Thr1921Ser)
c.5639C>G (p.Thr1880Ser)
c.5795C>G (p.Thr1932Ser)
12g.51807248C>TCA384889243SCN8Ac.5762C>T (p.Thr1921Ile)
c.5639C>T (p.Thr1880Ile)
c.5795C>T (p.Thr1932Ile)
12g.51807249T>ACA480062221SCN8Ac.5763T>A (p.Thr1921=)
c.5640T>A (p.Thr1880=)
c.5796T>A (p.Thr1932=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807249T>CCA480062223SCN8Ac.5763T>C (p.Thr1921=)
c.5640T>C (p.Thr1880=)
c.5796T>C (p.Thr1932=)
12g.51807249T>GCA480062222SCN8Ac.5763T>G (p.Thr1921=)
c.5640T>G (p.Thr1880=)
c.5796T>G (p.Thr1932=)
12g.51807249T=CA2036194932SCN8Ac.5763T= (p.Thr1921=)
c.5640T= (p.Thr1880=)
c.5796T= (p.Thr1932=)
12g.51807250T>ACA384889250SCN8Ac.5764T>A (p.Ser1922Thr)
c.5641T>A (p.Ser1881Thr)
c.5797T>A (p.Ser1933Thr)
 ClinVar dbSNP
12g.51807250T>CCA384889254SCN8Ac.5764T>C (p.Ser1922Pro)
c.5641T>C (p.Ser1881Pro)
c.5797T>C (p.Ser1933Pro)
12g.51807250T>GCA384889261SCN8Ac.5764T>G (p.Ser1922Ala)
c.5641T>G (p.Ser1881Ala)
c.5797T>G (p.Ser1933Ala)
12g.51807251C>ACA384889265SCN8Ac.5765C>A (p.Ser1922Tyr)
c.5642C>A (p.Ser1881Tyr)
c.5798C>A (p.Ser1933Tyr)
12g.51807251C>GCA384889266SCN8Ac.5765C>G (p.Ser1922Cys)
c.5642C>G (p.Ser1881Cys)
c.5798C>G (p.Ser1933Cys)
12g.51807251C>TCA384889268SCN8Ac.5765C>T (p.Ser1922Phe)
c.5642C>T (p.Ser1881Phe)
c.5798C>T (p.Ser1933Phe)
 gnomAD v3 gnomAD v4
12g.51807252T>ACA480062227SCN8Ac.5766T>A (p.Ser1922=)
c.5643T>A (p.Ser1881=)
c.5799T>A (p.Ser1933=)
12g.51807252T>CCA480062228SCN8Ac.5766T>C (p.Ser1922=)
c.5643T>C (p.Ser1881=)
c.5799T>C (p.Ser1933=)
12g.51807252T>GCA480062229SCN8Ac.5766T>G (p.Ser1922=)
c.5643T>G (p.Ser1881=)
c.5799T>G (p.Ser1933=)
12g.51807253A=CA2036194937SCN8Ac.5767A= (p.Asn1923=)
c.5644A= (p.Asn1882=)
c.5800A= (p.Asn1934=)
12g.51807253A>CCA384889271SCN8Ac.5767A>C (p.Asn1923His)
c.5644A>C (p.Asn1882His)
c.5800A>C (p.Asn1934His)
 gnomAD v4
12g.51807253A>GCA384889273SCN8Ac.5767A>G (p.Asn1923Asp)
c.5644A>G (p.Asn1882Asp)
c.5800A>G (p.Asn1934Asp)
 dbSNP gnomAD v3 gnomAD v4
12g.51807253A>TCA384889275SCN8Ac.5767A>T (p.Asn1923Tyr)
c.5644A>T (p.Asn1882Tyr)
c.5800A>T (p.Asn1934Tyr)
12g.51807254A>CCA384889286SCN8Ac.5768A>C (p.Asn1923Thr)
c.5645A>C (p.Asn1882Thr)
c.5801A>C (p.Asn1934Thr)
12g.51807254A>GCA384889287SCN8Ac.5768A>G (p.Asn1923Ser)
c.5645A>G (p.Asn1882Ser)
c.5801A>G (p.Asn1934Ser)
12g.51807254A>TCA384889289SCN8Ac.5768A>T (p.Asn1923Ile)
c.5645A>T (p.Asn1882Ile)
c.5801A>T (p.Asn1934Ile)
12g.51807255T>ACA384889293SCN8Ac.5769T>A (p.Asn1923Lys)
c.5646T>A (p.Asn1882Lys)
c.5802T>A (p.Asn1934Lys)
12g.51807255T>CCA480062237SCN8Ac.5769T>C (p.Asn1923=)
c.5646T>C (p.Asn1882=)
c.5802T>C (p.Asn1934=)
 ClinVar
12g.51807255T>GCA384889292SCN8Ac.5769T>G (p.Asn1923Lys)
c.5646T>G (p.Asn1882Lys)
c.5802T>G (p.Asn1934Lys)
12g.51807256A=CA2036194942SCN8Ac.5770A= (p.Lys1924=)
c.5647A= (p.Lys1883=)
c.5803A= (p.Lys1935=)
12g.51807256A>CCA384889294SCN8Ac.5770A>C (p.Lys1924Gln)
c.5647A>C (p.Lys1883Gln)
c.5803A>C (p.Lys1935Gln)
12g.51807256A>GCA384889299SCN8Ac.5770A>G (p.Lys1924Glu)
c.5647A>G (p.Lys1883Glu)
c.5803A>G (p.Lys1935Glu)
12g.51807256A>TCA384889296SCN8Ac.5770A>T (p.Lys1924Ter)
c.5647A>T (p.Lys1883Ter)
c.5803A>T (p.Lys1935Ter)
 dbSNP
12g.51807257A>CCA384889302SCN8Ac.5771A>C (p.Lys1924Thr)
c.5648A>C (p.Lys1883Thr)
c.5804A>C (p.Lys1935Thr)
12g.51807257A>GCA384889310SCN8Ac.5771A>G (p.Lys1924Arg)
c.5648A>G (p.Lys1883Arg)
c.5804A>G (p.Lys1935Arg)
12g.51807257A>TCA384889307SCN8Ac.5771A>T (p.Lys1924Met)
c.5648A>T (p.Lys1883Met)
c.5804A>T (p.Lys1935Met)
12g.51807258G>ACA480062251SCN8Ac.5772G>A (p.Lys1924=)
c.5649G>A (p.Lys1883=)
c.5805G>A (p.Lys1935=)
12g.51807258G>CCA384889315SCN8Ac.5772G>C (p.Lys1924Asn)
c.5649G>C (p.Lys1883Asn)
c.5805G>C (p.Lys1935Asn)
12g.51807258G>TCA384889320SCN8Ac.5772G>T (p.Lys1924Asn)
c.5649G>T (p.Lys1883Asn)
c.5805G>T (p.Lys1935Asn)
12g.51807259C>ACA384889322SCN8Ac.5773C>A (p.Leu1925Met)
c.5650C>A (p.Leu1884Met)
c.5806C>A (p.Leu1936Met)
12g.51807259C>GCA384889325SCN8Ac.5773C>G (p.Leu1925Val)
c.5650C>G (p.Leu1884Val)
c.5806C>G (p.Leu1936Val)
12g.51807259C>TCA480062258SCN8Ac.5773C>T (p.Leu1925=)
c.5650C>T (p.Leu1884=)
c.5806C>T (p.Leu1936=)
12g.51807260T>ACA384889328SCN8Ac.5774T>A (p.Leu1925Gln)
c.5651T>A (p.Leu1884Gln)
c.5807T>A (p.Leu1936Gln)
12g.51807260T>CCA384889331SCN8Ac.5774T>C (p.Leu1925Pro)
c.5651T>C (p.Leu1884Pro)
c.5807T>C (p.Leu1936Pro)
12g.51807260T>GCA384889332SCN8Ac.5774T>G (p.Leu1925Arg)
c.5651T>G (p.Leu1884Arg)
c.5807T>G (p.Leu1936Arg)
12g.51807261G>ACA480062260SCN8Ac.5775G>A (p.Leu1925=)
c.5652G>A (p.Leu1884=)
c.5808G>A (p.Leu1936=)
 gnomAD v4
12g.51807261G>CCA480062261SCN8Ac.5775G>C (p.Leu1925=)
c.5652G>C (p.Leu1884=)
c.5808G>C (p.Leu1936=)
12g.51807261G>TCA480062263SCN8Ac.5775G>T (p.Leu1925=)
c.5652G>T (p.Leu1884=)
c.5808G>T (p.Leu1936=)
 gnomAD v4
12g.51807262G>ACA384889335SCN8Ac.5776G>A (p.Glu1926Lys)
c.5653G>A (p.Glu1885Lys)
c.5809G>A (p.Glu1937Lys)
12g.51807262G>CCA384889338SCN8Ac.5776G>C (p.Glu1926Gln)
c.5653G>C (p.Glu1885Gln)
c.5809G>C (p.Glu1937Gln)
12g.51807262G=CA2036194947SCN8Ac.5776G= (p.Glu1926=)
c.5653G= (p.Glu1885=)
c.5809G= (p.Glu1937=)
12g.51807262G>TCA384889340SCN8Ac.5776G>T (p.Glu1926Ter)
c.5653G>T (p.Glu1885Ter)
c.5809G>T (p.Glu1937Ter)
 dbSNP
12g.51807263A>CCA384889343SCN8Ac.5777A>C (p.Glu1926Ala)
c.5654A>C (p.Glu1885Ala)
c.5810A>C (p.Glu1937Ala)
 gnomAD v4
12g.51807263A>GCA384889344SCN8Ac.5777A>G (p.Glu1926Gly)
c.5654A>G (p.Glu1885Gly)
c.5810A>G (p.Glu1937Gly)
 gnomAD v4
12g.51807263A>TCA384889347SCN8Ac.5777A>T (p.Glu1926Val)
c.5654A>T (p.Glu1885Val)
c.5810A>T (p.Glu1937Val)
 ClinVar
12g.51807264G>ACA480062271SCN8Ac.5778G>A (p.Glu1926=)
c.5655G>A (p.Glu1885=)
c.5811G>A (p.Glu1937=)
12g.51807264G>CCA384889352SCN8Ac.5778G>C (p.Glu1926Asp)
c.5655G>C (p.Glu1885Asp)
c.5811G>C (p.Glu1937Asp)
12g.51807264G>TCA384889350SCN8Ac.5778G>T (p.Glu1926Asp)
c.5655G>T (p.Glu1885Asp)
c.5811G>T (p.Glu1937Asp)
12g.51807265A>CCA384889354SCN8Ac.5779A>C (p.Asn1927His)
c.5656A>C (p.Asn1886His)
c.5812A>C (p.Asn1938His)
12g.51807265A>GCA384889357SCN8Ac.5779A>G (p.Asn1927Asp)
c.5656A>G (p.Asn1886Asp)
c.5812A>G (p.Asn1938Asp)
12g.51807265A>TCA384889358SCN8Ac.5779A>T (p.Asn1927Tyr)
c.5656A>T (p.Asn1886Tyr)
c.5812A>T (p.Asn1938Tyr)
12g.51807266A=CA2036194950SCN8Ac.5780A= (p.Asn1927=)
c.5657A= (p.Asn1886=)
c.5813A= (p.Asn1938=)
12g.51807266A>CCA384889361SCN8Ac.5780A>C (p.Asn1927Thr)
c.5657A>C (p.Asn1886Thr)
c.5813A>C (p.Asn1938Thr)
12g.51807266A>GCA384889371SCN8Ac.5780A>G (p.Asn1927Ser)
c.5657A>G (p.Asn1886Ser)
c.5813A>G (p.Asn1938Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.51807266A>TCA384889372SCN8Ac.5780A>T (p.Asn1927Ile)
c.5657A>T (p.Asn1886Ile)
c.5813A>T (p.Asn1938Ile)
12g.51807267T>ACA384889374SCN8Ac.5781T>A (p.Asn1927Lys)
c.5658T>A (p.Asn1886Lys)
c.5814T>A (p.Asn1938Lys)
12g.51807267T>CCA6571952SCN8Ac.5781T>C (p.Asn1927=)
c.5658T>C (p.Asn1886=)
c.5814T>C (p.Asn1938=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807267T>GCA384889378SCN8Ac.5781T>G (p.Asn1927Lys)
c.5658T>G (p.Asn1886Lys)
c.5814T>G (p.Asn1938Lys)
12g.51807267T=CA2036194956SCN8Ac.5781T= (p.Asn1927=)
c.5658T= (p.Asn1886=)
c.5814T= (p.Asn1938=)
12g.51807268G>ACA384889382SCN8Ac.5782G>A (p.Gly1928Arg)
c.5659G>A (p.Gly1887Arg)
c.5815G>A (p.Gly1939Arg)
12g.51807268G>CCA384889386SCN8Ac.5782G>C (p.Gly1928Arg)
c.5659G>C (p.Gly1887Arg)
c.5815G>C (p.Gly1939Arg)
12g.51807268G=CA2036194960SCN8Ac.5782G= (p.Gly1928=)
c.5659G= (p.Gly1887=)
c.5815G= (p.Gly1939=)
12g.51807268G>TCA384889394SCN8Ac.5782G>T (p.Gly1928Ter)
c.5659G>T (p.Gly1887Ter)
c.5815G>T (p.Gly1939Ter)
 dbSNP
12g.51807269G>ACA384889398SCN8Ac.5783G>A (p.Gly1928Glu)
c.5660G>A (p.Gly1887Glu)
c.5816G>A (p.Gly1939Glu)
12g.51807269G>CCA384889411SCN8Ac.5783G>C (p.Gly1928Ala)
c.5660G>C (p.Gly1887Ala)
c.5816G>C (p.Gly1939Ala)
12g.51807269G>TCA384889396SCN8Ac.5783G>T (p.Gly1928Val)
c.5660G>T (p.Gly1887Val)
c.5816G>T (p.Gly1939Val)
12g.51807270A>CCA480062287SCN8Ac.5784A>C (p.Gly1928=)
c.5661A>C (p.Gly1887=)
c.5817A>C (p.Gly1939=)
12g.51807270A>GCA480062288SCN8Ac.5784A>G (p.Gly1928=)
c.5661A>G (p.Gly1887=)
c.5817A>G (p.Gly1939=)
12g.51807270A>TCA480062289SCN8Ac.5784A>T (p.Gly1928=)
c.5661A>T (p.Gly1887=)
c.5817A>T (p.Gly1939=)
12g.51807271G>ACA384889417SCN8Ac.5785G>A (p.Gly1929Ser)
c.5662G>A (p.Gly1888Ser)
c.5818G>A (p.Gly1940Ser)
12g.51807271G>CCA384889421SCN8Ac.5785G>C (p.Gly1929Arg)
c.5662G>C (p.Gly1888Arg)
c.5818G>C (p.Gly1940Arg)
12g.51807271G>TCA384889424SCN8Ac.5785G>T (p.Gly1929Cys)
c.5662G>T (p.Gly1888Cys)
c.5818G>T (p.Gly1940Cys)
12g.51807272G>ACA384889427SCN8Ac.5786G>A (p.Gly1929Asp)
c.5663G>A (p.Gly1888Asp)
c.5819G>A (p.Gly1940Asp)
12g.51807272G>CCA6571953SCN8Ac.5786G>C (p.Gly1929Ala)
c.5663G>C (p.Gly1888Ala)
c.5819G>C (p.Gly1940Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807272G=CA2036194968SCN8Ac.5786G= (p.Gly1929=)
c.5663G= (p.Gly1888=)
c.5819G= (p.Gly1940=)
12g.51807272G>TCA384889432SCN8Ac.5786G>T (p.Gly1929Val)
c.5663G>T (p.Gly1888Val)
c.5819G>T (p.Gly1940Val)
12g.51807273C>ACA480062293SCN8Ac.5787C>A (p.Gly1929=)
c.5664C>A (p.Gly1888=)
c.5820C>A (p.Gly1940=)
12g.51807273C>GCA480062292SCN8Ac.5787C>G (p.Gly1929=)
c.5664C>G (p.Gly1888=)
c.5820C>G (p.Gly1940=)
12g.51807273C>TCA480062291SCN8Ac.5787C>T (p.Gly1929=)
c.5664C>T (p.Gly1888=)
c.5820C>T (p.Gly1940=)
12g.51807274A>CCA384889436SCN8Ac.5788A>C (p.Thr1930Pro)
c.5665A>C (p.Thr1889Pro)
c.5821A>C (p.Thr1941Pro)
12g.51807274A>GCA384889449SCN8Ac.5788A>G (p.Thr1930Ala)
c.5665A>G (p.Thr1889Ala)
c.5821A>G (p.Thr1941Ala)
12g.51807274A>TCA384889452SCN8Ac.5788A>T (p.Thr1930Ser)
c.5665A>T (p.Thr1889Ser)
c.5821A>T (p.Thr1941Ser)
12g.51807275C>ACA384889455SCN8Ac.5789C>A (p.Thr1930Lys)
c.5666C>A (p.Thr1889Lys)
c.5822C>A (p.Thr1941Lys)
12g.51807275C=CA2036194974SCN8Ac.5789C= (p.Thr1930=)
c.5666C= (p.Thr1889=)
c.5822C= (p.Thr1941=)
12g.51807275C>GCA384889459SCN8Ac.5789C>G (p.Thr1930Arg)
c.5666C>G (p.Thr1889Arg)
c.5822C>G (p.Thr1941Arg)
12g.51807275C>TCA6571954SCN8Ac.5789C>T (p.Thr1930Ile)
c.5666C>T (p.Thr1889Ile)
c.5822C>T (p.Thr1941Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807276A>CCA480062298SCN8Ac.5790A>C (p.Thr1930=)
c.5667A>C (p.Thr1889=)
c.5823A>C (p.Thr1941=)
12g.51807276A>GCA480062299SCN8Ac.5790A>G (p.Thr1930=)
c.5667A>G (p.Thr1889=)
c.5823A>G (p.Thr1941=)
 gnomAD v4
12g.51807276A>TCA480062301SCN8Ac.5790A>T (p.Thr1930=)
c.5667A>T (p.Thr1889=)
c.5823A>T (p.Thr1941=)
12g.51807277C>ACA384889469SCN8Ac.5791C>A (p.His1931Asn)
c.5668C>A (p.His1890Asn)
c.5824C>A (p.His1942Asn)
12g.51807277C>GCA384889463SCN8Ac.5791C>G (p.His1931Asp)
c.5668C>G (p.His1890Asp)
c.5824C>G (p.His1942Asp)
12g.51807277C>TCA384889466SCN8Ac.5791C>T (p.His1931Tyr)
c.5668C>T (p.His1890Tyr)
c.5824C>T (p.His1942Tyr)
 gnomAD v4
12g.51807278A>CCA384889470SCN8Ac.5792A>C (p.His1931Pro)
c.5669A>C (p.His1890Pro)
c.5825A>C (p.His1942Pro)
12g.51807278A>GCA384889471SCN8Ac.5792A>G (p.His1931Arg)
c.5669A>G (p.His1890Arg)
c.5825A>G (p.His1942Arg)
12g.51807278A>TCA384889472SCN8Ac.5792A>T (p.His1931Leu)
c.5669A>T (p.His1890Leu)
c.5825A>T (p.His1942Leu)
12g.51807279C>ACA384889475SCN8Ac.5793C>A (p.His1931Gln)
c.5670C>A (p.His1890Gln)
c.5826C>A (p.His1942Gln)
12g.51807279C=CA2036194978SCN8Ac.5793C= (p.His1931=)
c.5670C= (p.His1890=)
c.5826C= (p.His1942=)
12g.51807279C>GCA384889477SCN8Ac.5793C>G (p.His1931Gln)
c.5670C>G (p.His1890Gln)
c.5826C>G (p.His1942Gln)
 ClinVar dbSNP
12g.51807279C>TCA480062308SCN8Ac.5793C>T (p.His1931=)
c.5670C>T (p.His1890=)
c.5826C>T (p.His1942=)
12g.51807280C>ACA480062309SCN8Ac.5794C>A (p.Arg1932=)
c.5671C>A (p.Arg1891=)
c.5827C>A (p.Arg1943=)
12g.51807280C=CA2036194982SCN8Ac.5794C= (p.Arg1932=)
c.5671C= (p.Arg1891=)
c.5827C= (p.Arg1943=)
12g.51807280C>GCA384889485SCN8Ac.5794C>G (p.Arg1932Gly)
c.5671C>G (p.Arg1891Gly)
c.5827C>G (p.Arg1943Gly)
12g.51807280C>TCA6571955SCN8Ac.5794C>T (p.Arg1932Trp)
c.5671C>T (p.Arg1891Trp)
c.5827C>T (p.Arg1943Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807281G>ACA6571956SCN8Ac.5795G>A (p.Arg1932Gln)
c.5672G>A (p.Arg1891Gln)
c.5828G>A (p.Arg1943Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807281G>CCA318305SCN8Ac.5795G>C (p.Arg1932Pro)
c.5672G>C (p.Arg1891Pro)
c.5828G>C (p.Arg1943Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807281G=CA2036194990SCN8Ac.5795G= (p.Arg1932=)
c.5672G= (p.Arg1891=)
c.5828G= (p.Arg1943=)
12g.51807281G>TCA384889496SCN8Ac.5795G>T (p.Arg1932Leu)
c.5672G>T (p.Arg1891Leu)
c.5828G>T (p.Arg1943Leu)
12g.51807282G>ACA480062316SCN8Ac.5796G>A (p.Arg1932=)
c.5673G>A (p.Arg1891=)
c.5829G>A (p.Arg1943=)
 ClinVar dbSNP
12g.51807282G>CCA480062317SCN8Ac.5796G>C (p.Arg1932=)
c.5673G>C (p.Arg1891=)
c.5829G>C (p.Arg1943=)
12g.51807282G>TCA480062319SCN8Ac.5796G>T (p.Arg1932=)
c.5673G>T (p.Arg1891=)
c.5829G>T (p.Arg1943=)
12g.51807283G>ACA384889498SCN8Ac.5797G>A (p.Glu1933Lys)
c.5674G>A (p.Glu1892Lys)
c.5830G>A (p.Glu1944Lys)
12g.51807283G>CCA384889500SCN8Ac.5797G>C (p.Glu1933Gln)
c.5674G>C (p.Glu1892Gln)
c.5830G>C (p.Glu1944Gln)
12g.51807283G=CA2036194995SCN8Ac.5797G= (p.Glu1933=)
c.5674G= (p.Glu1892=)
c.5830G= (p.Glu1944=)
12g.51807283G>TCA384889501SCN8Ac.5797G>T (p.Glu1933Ter)
c.5674G>T (p.Glu1892Ter)
c.5830G>T (p.Glu1944Ter)
 dbSNP

Number of alleles fetched