Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51807086A>CCA384887913SCN8Ac.5600A>C (p.Gln1867Pro)
c.5477A>C (p.Gln1826Pro)
c.5633A>C (p.Gln1878Pro)
12g.51807086A>GCA384887917SCN8Ac.5600A>G (p.Gln1867Arg)
c.5477A>G (p.Gln1826Arg)
c.5633A>G (p.Gln1878Arg)
12g.51807086A>TCA384887920SCN8Ac.5600A>T (p.Gln1867Leu)
c.5477A>T (p.Gln1826Leu)
c.5633A>T (p.Gln1878Leu)
12g.51807087G>ACA318243SCN8Ac.5601G>A (p.Gln1867=)
c.5478G>A (p.Gln1826=)
c.5634G>A (p.Gln1878=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807087G>CCA384887924SCN8Ac.5601G>C (p.Gln1867His)
c.5478G>C (p.Gln1826His)
c.5634G>C (p.Gln1878His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807087G=CA2036194471SCN8Ac.5601G= (p.Gln1867=)
c.5478G= (p.Gln1826=)
c.5634G= (p.Gln1878=)
12g.51807087G>TCA384887925SCN8Ac.5601G>T (p.Gln1867His)
c.5478G>T (p.Gln1826His)
c.5634G>T (p.Gln1878His)
12g.51807088C>ACA384887926SCN8Ac.5602C>A (p.Gln1868Lys)
c.5479C>A (p.Gln1827Lys)
c.5635C>A (p.Gln1879Lys)
12g.51807088C>GCA384887927SCN8Ac.5602C>G (p.Gln1868Glu)
c.5479C>G (p.Gln1827Glu)
c.5635C>G (p.Gln1879Glu)
12g.51807088C>TCA384887928SCN8Ac.5602C>T (p.Gln1868Ter)
c.5479C>T (p.Gln1827Ter)
c.5635C>T (p.Gln1879Ter)
12g.51807089A>CCA384887941SCN8Ac.5603A>C (p.Gln1868Pro)
c.5480A>C (p.Gln1827Pro)
c.5636A>C (p.Gln1879Pro)
 ClinVar
12g.51807089A>GCA384887960SCN8Ac.5603A>G (p.Gln1868Arg)
c.5480A>G (p.Gln1827Arg)
c.5636A>G (p.Gln1879Arg)
12g.51807089A>TCA384887930SCN8Ac.5603A>T (p.Gln1868Leu)
c.5480A>T (p.Gln1827Leu)
c.5636A>T (p.Gln1879Leu)
12g.51807090G>ACA480062053SCN8Ac.5604G>A (p.Gln1868=)
c.5481G>A (p.Gln1827=)
c.5637G>A (p.Gln1879=)
12g.51807090G>CCA384887971SCN8Ac.5604G>C (p.Gln1868His)
c.5481G>C (p.Gln1827His)
c.5637G>C (p.Gln1879His)
12g.51807090G>TCA384887968SCN8Ac.5604G>T (p.Gln1868His)
c.5481G>T (p.Gln1827His)
c.5637G>T (p.Gln1879His)
12g.51807091A>CCA384887978SCN8Ac.5605A>C (p.Met1869Leu)
c.5482A>C (p.Met1828Leu)
c.5638A>C (p.Met1880Leu)
12g.51807091A>GCA384887974SCN8Ac.5605A>G (p.Met1869Val)
c.5482A>G (p.Met1828Val)
c.5638A>G (p.Met1880Val)
 ClinVar dbSNP
12g.51807091A>TCA384887975SCN8Ac.5605A>T (p.Met1869Leu)
c.5482A>T (p.Met1828Leu)
c.5638A>T (p.Met1880Leu)
12g.51807092T>ACA384887986SCN8Ac.5606T>A (p.Met1869Lys)
c.5483T>A (p.Met1828Lys)
c.5639T>A (p.Met1880Lys)
12g.51807092T>CCA16619566SCN8Ac.5606T>C (p.Met1869Thr)
c.5483T>C (p.Met1828Thr)
c.5639T>C (p.Met1880Thr)
 ClinVar dbSNP
12g.51807092T>GCA384887987SCN8Ac.5606T>G (p.Met1869Arg)
c.5483T>G (p.Met1828Arg)
c.5639T>G (p.Met1880Arg)
12g.51807092T=CA2036194479SCN8Ac.5606T= (p.Met1869=)
c.5483T= (p.Met1828=)
c.5639T= (p.Met1880=)
12g.51807093G>ACA384887991SCN8Ac.5607G>A (p.Met1869Ile)
c.5484G>A (p.Met1828Ile)
c.5640G>A (p.Met1880Ile)
 ClinVar dbSNP
12g.51807093G>CCA384887993SCN8Ac.5607G>C (p.Met1869Ile)
c.5484G>C (p.Met1828Ile)
c.5640G>C (p.Met1880Ile)
12g.51807093G=CA2036194486SCN8Ac.5607G= (p.Met1869=)
c.5484G= (p.Met1828=)
c.5640G= (p.Met1880=)
12g.51807093G>TCA384887996SCN8Ac.5607G>T (p.Met1869Ile)
c.5484G>T (p.Met1828Ile)
c.5640G>T (p.Met1880Ile)
12g.51807094delCA2697559274SCN8Ac.5608del (p.Glu1870LysfsTer?)
c.5485del (p.Glu1829LysfsTer?)
c.5641del (p.Glu1881LysfsTer?)
 ClinVar
12g.51807094G>ACA384888000SCN8Ac.5608G>A (p.Glu1870Lys)
c.5485G>A (p.Glu1829Lys)
c.5641G>A (p.Glu1881Lys)
12g.51807094G>CCA384888002SCN8Ac.5608G>C (p.Glu1870Gln)
c.5485G>C (p.Glu1829Gln)
c.5641G>C (p.Glu1881Gln)
12g.51807094G=CA2036194497SCN8Ac.5608G= (p.Glu1870=)
c.5485G= (p.Glu1829=)
c.5641G= (p.Glu1881=)
12g.51807094G>TCA384888003SCN8Ac.5608G>T (p.Glu1870Ter)
c.5485G>T (p.Glu1829Ter)
c.5641G>T (p.Glu1881Ter)
 dbSNP
12g.51807095A>CCA384888013SCN8Ac.5609A>C (p.Glu1870Ala)
c.5486A>C (p.Glu1829Ala)
c.5642A>C (p.Glu1881Ala)
12g.51807095A>GCA384888011SCN8Ac.5609A>G (p.Glu1870Gly)
c.5486A>G (p.Glu1829Gly)
c.5642A>G (p.Glu1881Gly)
12g.51807095A>TCA384888007SCN8Ac.5609A>T (p.Glu1870Val)
c.5486A>T (p.Glu1829Val)
c.5642A>T (p.Glu1881Val)
12g.51807096A=CA2036194505SCN8Ac.5610A= (p.Glu1870=)
c.5487A= (p.Glu1829=)
c.5643A= (p.Glu1881=)
12g.51807096A>CCA384888017SCN8Ac.5610A>C (p.Glu1870Asp)
c.5487A>C (p.Glu1829Asp)
c.5643A>C (p.Glu1881Asp)
12g.51807096A>GCA480062067SCN8Ac.5610A>G (p.Glu1870=)
c.5487A>G (p.Glu1829=)
c.5643A>G (p.Glu1881=)
 gnomAD v3 gnomAD v4
12g.51807096A>TCA10586301SCN8Ac.5610A>T (p.Glu1870Asp)
c.5487A>T (p.Glu1829Asp)
c.5643A>T (p.Glu1881Asp)
 ClinVar dbSNP
12g.51807097G>ACA384888031SCN8Ac.5611G>A (p.Glu1871Lys)
c.5488G>A (p.Glu1830Lys)
c.5644G>A (p.Glu1882Lys)
12g.51807097G>CCA384888034SCN8Ac.5611G>C (p.Glu1871Gln)
c.5488G>C (p.Glu1830Gln)
c.5644G>C (p.Glu1882Gln)
12g.51807097G=CA2036194514SCN8Ac.5611G= (p.Glu1871=)
c.5488G= (p.Glu1830=)
c.5644G= (p.Glu1882=)
12g.51807097G>TCA384888037SCN8Ac.5611G>T (p.Glu1871Ter)
c.5488G>T (p.Glu1830Ter)
c.5644G>T (p.Glu1882Ter)
 dbSNP
12g.51807098A>CCA384888040SCN8Ac.5612A>C (p.Glu1871Ala)
c.5489A>C (p.Glu1830Ala)
c.5645A>C (p.Glu1882Ala)
12g.51807098A>GCA384888042SCN8Ac.5612A>G (p.Glu1871Gly)
c.5489A>G (p.Glu1830Gly)
c.5645A>G (p.Glu1882Gly)
12g.51807098A>TCA384888046SCN8Ac.5612A>T (p.Glu1871Val)
c.5489A>T (p.Glu1830Val)
c.5645A>T (p.Glu1882Val)
12g.51807099G>ACA480062072SCN8Ac.5613G>A (p.Glu1871=)
c.5490G>A (p.Glu1830=)
c.5646G>A (p.Glu1882=)
 gnomAD v4
12g.51807099G>CCA384888049SCN8Ac.5613G>C (p.Glu1871Asp)
c.5490G>C (p.Glu1830Asp)
c.5646G>C (p.Glu1882Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807099G=CA2036194518SCN8Ac.5613G= (p.Glu1871=)
c.5490G= (p.Glu1830=)
c.5646G= (p.Glu1882=)
12g.51807099G>TCA384888052SCN8Ac.5613G>T (p.Glu1871Asp)
c.5490G>T (p.Glu1830Asp)
c.5646G>T (p.Glu1882Asp)

Number of alleles fetched