Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.51807100C>ACA480062074SCN8Ac.5614C>A (p.Arg1872=)
c.5491C>A (p.Arg1831=)
c.5647C>A (p.Arg1883=)
12g.51807100C=CA2036194535SCN8Ac.5614C= (p.Arg1872=)
c.5491C= (p.Arg1831=)
c.5647C= (p.Arg1883=)
12g.51807100C>GCA384888065SCN8Ac.5614C>G (p.Arg1872Gly)
c.5491C>G (p.Arg1831Gly)
c.5647C>G (p.Arg1883Gly)
 ClinVar dbSNP
12g.51807100C>TCA318300SCN8Ac.5614C>T (p.Arg1872Trp)
c.5491C>T (p.Arg1831Trp)
c.5647C>T (p.Arg1883Trp)
 ClinVar dbSNP COSMIC COSMIC
12g.51807101G>ACA10586302SCN8Ac.5615G>A (p.Arg1872Gln)
c.5492G>A (p.Arg1831Gln)
c.5648G>A (p.Arg1883Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51807101G>CCA384888077SCN8Ac.5615G>C (p.Arg1872Pro)
c.5492G>C (p.Arg1831Pro)
c.5648G>C (p.Arg1883Pro)
12g.51807101G=CA2036194555SCN8Ac.5615G= (p.Arg1872=)
c.5492G= (p.Arg1831=)
c.5648G= (p.Arg1883=)
12g.51807101G>TCA318301SCN8Ac.5615G>T (p.Arg1872Leu)
c.5492G>T (p.Arg1831Leu)
c.5648G>T (p.Arg1883Leu)
 ClinVar dbSNP
12g.51807102G>ACA480062079SCN8Ac.5616G>A (p.Arg1872=)
c.5493G>A (p.Arg1831=)
c.5649G>A (p.Arg1883=)
12g.51807102G>CCA480062077SCN8Ac.5616G>C (p.Arg1872=)
c.5493G>C (p.Arg1831=)
c.5649G>C (p.Arg1883=)
12g.51807102G>TCA480062076SCN8Ac.5616G>T (p.Arg1872=)
c.5493G>T (p.Arg1831=)
c.5649G>T (p.Arg1883=)
12g.51807103T>ACA384888082SCN8Ac.5617T>A (p.Phe1873Ile)
c.5494T>A (p.Phe1832Ile)
c.5650T>A (p.Phe1884Ile)
12g.51807103T>CCA384888086SCN8Ac.5617T>C (p.Phe1873Leu)
c.5494T>C (p.Phe1832Leu)
c.5650T>C (p.Phe1884Leu)
12g.51807103T>GCA384888088SCN8Ac.5617T>G (p.Phe1873Val)
c.5494T>G (p.Phe1832Val)
c.5650T>G (p.Phe1884Val)
 dbSNP
12g.51807103T=CA2036194568SCN8Ac.5617T= (p.Phe1873=)
c.5494T= (p.Phe1832=)
c.5650T= (p.Phe1884=)
12g.51807104T>ACA384888092SCN8Ac.5618T>A (p.Phe1873Tyr)
c.5495T>A (p.Phe1832Tyr)
c.5651T>A (p.Phe1884Tyr)
12g.51807104T>CCA384888095SCN8Ac.5618T>C (p.Phe1873Ser)
c.5495T>C (p.Phe1832Ser)
c.5651T>C (p.Phe1884Ser)
12g.51807104T>GCA384888097SCN8Ac.5618T>G (p.Phe1873Cys)
c.5495T>G (p.Phe1832Cys)
c.5651T>G (p.Phe1884Cys)
12g.51807105_51807107dupCA2697559275SCN8Ac.5619_5621dup (p.Val1874_Ala1875insVal)
c.5496_5498dup (p.Val1833_Ala1834insVal)
c.5652_5654dup (p.Val1885_Ala1886insVal)
 ClinVar

Number of alleles fetched