Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51807065_51807085dupCA2499221741SCN8Ac.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg)
c.5456_5476dup (p.Arg1825_Gln1826insArgGluLeuAspIleLeuArg)
c.5612_5632dup (p.Arg1877_Gln1878insArgGluLeuAspIleLeuArg)
 ClinVar dbSNP
12g.51807071T>ACA384887796SCN8Ac.5585T>A (p.Leu1862Ter)
c.5462T>A (p.Leu1821Ter)
c.5618T>A (p.Leu1873Ter)
12g.51807071T>CCA384887780SCN8Ac.5585T>C (p.Leu1862Ser)
c.5462T>C (p.Leu1821Ser)
c.5618T>C (p.Leu1873Ser)
12g.51807071T>GCA384887793SCN8Ac.5585T>G (p.Leu1862Trp)
c.5462T>G (p.Leu1821Trp)
c.5618T>G (p.Leu1873Trp)
12g.51807072G>ACA480062021SCN8Ac.5586G>A (p.Leu1862=)
c.5463G>A (p.Leu1821=)
c.5619G>A (p.Leu1873=)
12g.51807072G>CCA384887799SCN8Ac.5586G>C (p.Leu1862Phe)
c.5463G>C (p.Leu1821Phe)
c.5619G>C (p.Leu1873Phe)
12g.51807072G>TCA384887803SCN8Ac.5586G>T (p.Leu1862Phe)
c.5463G>T (p.Leu1821Phe)
c.5619G>T (p.Leu1873Phe)
12g.51807073G>ACA236327721SCN8Ac.5587G>A (p.Asp1863Asn)
c.5464G>A (p.Asp1822Asn)
c.5620G>A (p.Asp1874Asn)
 dbSNP
12g.51807073G>CCA384887810SCN8Ac.5587G>C (p.Asp1863His)
c.5464G>C (p.Asp1822His)
c.5620G>C (p.Asp1874His)
12g.51807073G=CA2036194407SCN8Ac.5587G= (p.Asp1863=)
c.5464G= (p.Asp1822=)
c.5620G= (p.Asp1874=)
12g.51807073G>TCA384887815SCN8Ac.5587G>T (p.Asp1863Tyr)
c.5464G>T (p.Asp1822Tyr)
c.5620G>T (p.Asp1874Tyr)
12g.51807074A>CCA384887820SCN8Ac.5588A>C (p.Asp1863Ala)
c.5465A>C (p.Asp1822Ala)
c.5621A>C (p.Asp1874Ala)
 ClinVar dbSNP
12g.51807074A>GCA384887823SCN8Ac.5588A>G (p.Asp1863Gly)
c.5465A>G (p.Asp1822Gly)
c.5621A>G (p.Asp1874Gly)
12g.51807074A>TCA384887824SCN8Ac.5588A>T (p.Asp1863Val)
c.5465A>T (p.Asp1822Val)
c.5621A>T (p.Asp1874Val)
12g.51807075C>ACA384887825SCN8Ac.5589C>A (p.Asp1863Glu)
c.5466C>A (p.Asp1822Glu)
c.5622C>A (p.Asp1874Glu)
 dbSNP
12g.51807075C=CA2036194417SCN8Ac.5589C= (p.Asp1863=)
c.5466C= (p.Asp1822=)
c.5622C= (p.Asp1874=)
12g.51807075C>GCA384887826SCN8Ac.5589C>G (p.Asp1863Glu)
c.5466C>G (p.Asp1822Glu)
c.5622C>G (p.Asp1874Glu)
12g.51807075C>TCA480062024SCN8Ac.5589C>T (p.Asp1863=)
c.5466C>T (p.Asp1822=)
c.5622C>T (p.Asp1874=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51807076A=CA2036194423SCN8Ac.5590A= (p.Ile1864=)
c.5467A= (p.Ile1823=)
c.5623A= (p.Ile1875=)
12g.51807076A>CCA384887834SCN8Ac.5590A>C (p.Ile1864Leu)
c.5467A>C (p.Ile1823Leu)
c.5623A>C (p.Ile1875Leu)
12g.51807076A>GCA384887832SCN8Ac.5590A>G (p.Ile1864Val)
c.5467A>G (p.Ile1823Val)
c.5623A>G (p.Ile1875Val)
 ClinVar dbSNP
12g.51807076A>TCA384887829SCN8Ac.5590A>T (p.Ile1864Phe)
c.5467A>T (p.Ile1823Phe)
c.5623A>T (p.Ile1875Phe)
12g.51807077T>ACA384887839SCN8Ac.5591T>A (p.Ile1864Asn)
c.5468T>A (p.Ile1823Asn)
c.5624T>A (p.Ile1875Asn)
12g.51807077T>CCA384887845SCN8Ac.5591T>C (p.Ile1864Thr)
c.5468T>C (p.Ile1823Thr)
c.5624T>C (p.Ile1875Thr)
12g.51807077T>GCA384887848SCN8Ac.5591T>G (p.Ile1864Ser)
c.5468T>G (p.Ile1823Ser)
c.5624T>G (p.Ile1875Ser)
12g.51807078C>ACA480062029SCN8Ac.5592C>A (p.Ile1864=)
c.5469C>A (p.Ile1823=)
c.5625C>A (p.Ile1875=)
 gnomAD v4
12g.51807078C>GCA384887852SCN8Ac.5592C>G (p.Ile1864Met)
c.5469C>G (p.Ile1823Met)
c.5625C>G (p.Ile1875Met)
12g.51807078C>TCA480062030SCN8Ac.5592C>T (p.Ile1864=)
c.5469C>T (p.Ile1823=)
c.5625C>T (p.Ile1875=)
 COSMIC COSMIC
12g.51807079C>ACA384887853SCN8Ac.5593C>A (p.Leu1865Met)
c.5470C>A (p.Leu1824Met)
c.5626C>A (p.Leu1876Met)
12g.51807079C=CA2036194429SCN8Ac.5593C= (p.Leu1865=)
c.5470C= (p.Leu1824=)
c.5626C= (p.Leu1876=)
12g.51807079C>GCA384887854SCN8Ac.5593C>G (p.Leu1865Val)
c.5470C>G (p.Leu1824Val)
c.5626C>G (p.Leu1876Val)
 ClinVar dbSNP
12g.51807079C>TCA480062032SCN8Ac.5593C>T (p.Leu1865=)
c.5470C>T (p.Leu1824=)
c.5626C>T (p.Leu1876=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807080T>ACA384887858SCN8Ac.5594T>A (p.Leu1865Gln)
c.5471T>A (p.Leu1824Gln)
c.5627T>A (p.Leu1876Gln)
12g.51807080T>CCA384887860SCN8Ac.5594T>C (p.Leu1865Pro)
c.5471T>C (p.Leu1824Pro)
c.5627T>C (p.Leu1876Pro)
 ClinVar
12g.51807080T>GCA384887862SCN8Ac.5594T>G (p.Leu1865Arg)
c.5471T>G (p.Leu1824Arg)
c.5627T>G (p.Leu1876Arg)
12g.51807081G>ACA480062036SCN8Ac.5595G>A (p.Leu1865=)
c.5472G>A (p.Leu1824=)
c.5628G>A (p.Leu1876=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807081G>CCA480062038SCN8Ac.5595G>C (p.Leu1865=)
c.5472G>C (p.Leu1824=)
c.5628G>C (p.Leu1876=)
12g.51807081G=CA2036194434SCN8Ac.5595G= (p.Leu1865=)
c.5472G= (p.Leu1824=)
c.5628G= (p.Leu1876=)
12g.51807081G>TCA480062039SCN8Ac.5595G>T (p.Leu1865=)
c.5472G>T (p.Leu1824=)
c.5628G>T (p.Leu1876=)
12g.51807082C>ACA480062040SCN8Ac.5596C>A (p.Arg1866=)
c.5473C>A (p.Arg1825=)
c.5629C>A (p.Arg1877=)
12g.51807082C=CA2036194443SCN8Ac.5596C= (p.Arg1866=)
c.5473C= (p.Arg1825=)
c.5629C= (p.Arg1877=)
12g.51807082C>GCA384887867SCN8Ac.5596C>G (p.Arg1866Gly)
c.5473C>G (p.Arg1825Gly)
c.5629C>G (p.Arg1877Gly)
12g.51807082C>TCA384887871SCN8Ac.5596C>T (p.Arg1866Trp)
c.5473C>T (p.Arg1825Trp)
c.5629C>T (p.Arg1877Trp)
 ClinVar dbSNP COSMIC COSMIC
12g.51807083G>ACA384887889SCN8Ac.5597G>A (p.Arg1866Gln)
c.5474G>A (p.Arg1825Gln)
c.5630G>A (p.Arg1877Gln)
 ClinVar dbSNP
12g.51807083G>CCA384887887SCN8Ac.5597G>C (p.Arg1866Pro)
c.5474G>C (p.Arg1825Pro)
c.5630G>C (p.Arg1877Pro)
12g.51807083G=CA2036194462SCN8Ac.5597G= (p.Arg1866=)
c.5474G= (p.Arg1825=)
c.5630G= (p.Arg1877=)
12g.51807083G>TCA384887875SCN8Ac.5597G>T (p.Arg1866Leu)
c.5474G>T (p.Arg1825Leu)
c.5630G>T (p.Arg1877Leu)
12g.51807084delCA2573053704SCN8Ac.5598del (p.Gln1867SerfsTer?)
c.5475del (p.Gln1826SerfsTer?)
c.5631del (p.Gln1878SerfsTer?)
 ClinVar dbSNP
12g.51807084G>ACA236327727SCN8Ac.5598G>A (p.Arg1866=)
c.5475G>A (p.Arg1825=)
c.5631G>A (p.Arg1877=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51807084G>CCA480062043SCN8Ac.5598G>C (p.Arg1866=)
c.5475G>C (p.Arg1825=)
c.5631G>C (p.Arg1877=)
12g.51807084G=CA2036194465SCN8Ac.5598G= (p.Arg1866=)
c.5475G= (p.Arg1825=)
c.5631G= (p.Arg1877=)
12g.51807084G>TCA480062044SCN8Ac.5598G>T (p.Arg1866=)
c.5475G>T (p.Arg1825=)
c.5631G>T (p.Arg1877=)
12g.51807085C>ACA384887902SCN8Ac.5599C>A (p.Gln1867Lys)
c.5476C>A (p.Gln1826Lys)
c.5632C>A (p.Gln1878Lys)
12g.51807085C>GCA384887906SCN8Ac.5599C>G (p.Gln1867Glu)
c.5476C>G (p.Gln1826Glu)
c.5632C>G (p.Gln1878Glu)
12g.51807085C>TCA384887908SCN8Ac.5599C>T (p.Gln1867Ter)
c.5476C>T (p.Gln1826Ter)
c.5632C>T (p.Gln1878Ter)
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)
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
12g.51807105C>ACA384888102SCN8Ac.5619C>A (p.Phe1873Leu)
c.5496C>A (p.Phe1832Leu)
c.5652C>A (p.Phe1884Leu)
12g.51807105C=CA2036194583SCN8Ac.5619C= (p.Phe1873=)
c.5496C= (p.Phe1832=)
c.5652C= (p.Phe1884=)
12g.51807105C>GCA384888106SCN8Ac.5619C>G (p.Phe1873Leu)
c.5496C>G (p.Phe1832Leu)
c.5652C>G (p.Phe1884Leu)
12g.51807105C>TCA6571932SCN8Ac.5619C>T (p.Phe1873=)
c.5496C>T (p.Phe1832=)
c.5652C>T (p.Phe1884=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807106G>ACA6571933SCN8Ac.5620G>A (p.Val1874Met)
c.5497G>A (p.Val1833Met)
c.5653G>A (p.Val1885Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807106G>CCA384888120SCN8Ac.5620G>C (p.Val1874Leu)
c.5497G>C (p.Val1833Leu)
c.5653G>C (p.Val1885Leu)
 ClinVar dbSNP gnomAD v4
12g.51807106G=CA2036194596SCN8Ac.5620G= (p.Val1874=)
c.5497G= (p.Val1833=)
c.5653G= (p.Val1885=)
12g.51807106G>TCA384888123SCN8Ac.5620G>T (p.Val1874Leu)
c.5497G>T (p.Val1833Leu)
c.5653G>T (p.Val1885Leu)
12g.51807107T>ACA384888132SCN8Ac.5621T>A (p.Val1874Glu)
c.5498T>A (p.Val1833Glu)
c.5654T>A (p.Val1885Glu)
12g.51807107T>CCA384888134SCN8Ac.5621T>C (p.Val1874Ala)
c.5498T>C (p.Val1833Ala)
c.5654T>C (p.Val1885Ala)
12g.51807107T>GCA384888128SCN8Ac.5621T>G (p.Val1874Gly)
c.5498T>G (p.Val1833Gly)
c.5654T>G (p.Val1885Gly)
 ClinVar dbSNP
12g.51807107T=CA2036194606SCN8Ac.5621T= (p.Val1874=)
c.5498T= (p.Val1833=)
c.5654T= (p.Val1885=)
12g.51807108G>ACA480062087SCN8Ac.5622G>A (p.Val1874=)
c.5499G>A (p.Val1833=)
c.5655G>A (p.Val1885=)
12g.51807108G>CCA480062089SCN8Ac.5622G>C (p.Val1874=)
c.5499G>C (p.Val1833=)
c.5655G>C (p.Val1885=)
12g.51807108G>TCA480062091SCN8Ac.5622G>T (p.Val1874=)
c.5499G>T (p.Val1833=)
c.5655G>T (p.Val1885=)
12g.51807109G>ACA384888142SCN8Ac.5623G>A (p.Ala1875Thr)
c.5500G>A (p.Ala1834Thr)
c.5656G>A (p.Ala1886Thr)
 dbSNP gnomAD v2 COSMIC COSMIC
12g.51807109G>CCA384888157SCN8Ac.5623G>C (p.Ala1875Pro)
c.5500G>C (p.Ala1834Pro)
c.5656G>C (p.Ala1886Pro)
12g.51807109G=CA2036194615SCN8Ac.5623G= (p.Ala1875=)
c.5500G= (p.Ala1834=)
c.5656G= (p.Ala1886=)
12g.51807109G>TCA384888161SCN8Ac.5623G>T (p.Ala1875Ser)
c.5500G>T (p.Ala1834Ser)
c.5656G>T (p.Ala1886Ser)
 gnomAD v4
12g.51807110C>ACA384888165SCN8Ac.5624C>A (p.Ala1875Glu)
c.5501C>A (p.Ala1834Glu)
c.5657C>A (p.Ala1886Glu)
12g.51807110C=CA2036194636SCN8Ac.5624C= (p.Ala1875=)
c.5501C= (p.Ala1834=)
c.5657C= (p.Ala1886=)
12g.51807110C>GCA384888167SCN8Ac.5624C>G (p.Ala1875Gly)
c.5501C>G (p.Ala1834Gly)
c.5657C>G (p.Ala1886Gly)
12g.51807110C>TCA236327758SCN8Ac.5624C>T (p.Ala1875Val)
c.5501C>T (p.Ala1834Val)
c.5657C>T (p.Ala1886Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51807111A=CA2036194641SCN8Ac.5625A= (p.Ala1875=)
c.5502A= (p.Ala1834=)
c.5658A= (p.Ala1886=)
12g.51807111A>CCA480062093SCN8Ac.5625A>C (p.Ala1875=)
c.5502A>C (p.Ala1834=)
c.5658A>C (p.Ala1886=)
12g.51807111A>GCA480062094SCN8Ac.5625A>G (p.Ala1875=)
c.5502A>G (p.Ala1834=)
c.5658A>G (p.Ala1886=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807111A>TCA480062095SCN8Ac.5625A>T (p.Ala1875=)
c.5502A>T (p.Ala1834=)
c.5658A>T (p.Ala1886=)
12g.51807112T>ACA384888178SCN8Ac.5626T>A (p.Ser1876Thr)
c.5503T>A (p.Ser1835Thr)
c.5659T>A (p.Ser1887Thr)
 gnomAD v4
12g.51807112T>CCA384888180SCN8Ac.5626T>C (p.Ser1876Pro)
c.5503T>C (p.Ser1835Pro)
c.5659T>C (p.Ser1887Pro)
12g.51807112T>GCA384888179SCN8Ac.5626T>G (p.Ser1876Ala)
c.5503T>G (p.Ser1835Ala)
c.5659T>G (p.Ser1887Ala)
12g.51807113C>ACA384888182SCN8Ac.5627C>A (p.Ser1876Tyr)
c.5504C>A (p.Ser1835Tyr)
c.5660C>A (p.Ser1887Tyr)
12g.51807113C>GCA384888184SCN8Ac.5627C>G (p.Ser1876Cys)
c.5504C>G (p.Ser1835Cys)
c.5660C>G (p.Ser1887Cys)
12g.51807113C>TCA384888193SCN8Ac.5627C>T (p.Ser1876Phe)
c.5504C>T (p.Ser1835Phe)
c.5660C>T (p.Ser1887Phe)
12g.51807114C>ACA480062101SCN8Ac.5628C>A (p.Ser1876=)
c.5505C>A (p.Ser1835=)
c.5661C>A (p.Ser1887=)
12g.51807114C=CA2036194646SCN8Ac.5628C= (p.Ser1876=)
c.5505C= (p.Ser1835=)
c.5661C= (p.Ser1887=)
12g.51807114C>GCA480062102SCN8Ac.5628C>G (p.Ser1876=)
c.5505C>G (p.Ser1835=)
c.5661C>G (p.Ser1887=)
12g.51807114C>TCA6571934SCN8Ac.5628C>T (p.Ser1876=)
c.5505C>T (p.Ser1835=)
c.5661C>T (p.Ser1887=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807115A>CCA384888206SCN8Ac.5629A>C (p.Asn1877His)
c.5506A>C (p.Asn1836His)
c.5662A>C (p.Asn1888His)
12g.51807115A>GCA384888202SCN8Ac.5629A>G (p.Asn1877Asp)
c.5506A>G (p.Asn1836Asp)
c.5662A>G (p.Asn1888Asp)
 gnomAD v4
12g.51807115A>TCA384888198SCN8Ac.5629A>T (p.Asn1877Tyr)
c.5506A>T (p.Asn1836Tyr)
c.5662A>T (p.Asn1888Tyr)
12g.51807116A=CA2036194651SCN8Ac.5630A= (p.Asn1877=)
c.5507A= (p.Asn1836=)
c.5663A= (p.Asn1888=)
12g.51807116A>CCA384888210SCN8Ac.5630A>C (p.Asn1877Thr)
c.5507A>C (p.Asn1836Thr)
c.5663A>C (p.Asn1888Thr)
12g.51807116A>GCA289040SCN8Ac.5630A>G (p.Asn1877Ser)
c.5507A>G (p.Asn1836Ser)
c.5663A>G (p.Asn1888Ser)
 ClinVar dbSNP
12g.51807116A>TCA384888214SCN8Ac.5630A>T (p.Asn1877Ile)
c.5507A>T (p.Asn1836Ile)
c.5663A>T (p.Asn1888Ile)
12g.51807117T>ACA384888217SCN8Ac.5631T>A (p.Asn1877Lys)
c.5508T>A (p.Asn1836Lys)
c.5664T>A (p.Asn1888Lys)
12g.51807117T>CCA480062105SCN8Ac.5631T>C (p.Asn1877=)
c.5508T>C (p.Asn1836=)
c.5664T>C (p.Asn1888=)
12g.51807117T>GCA384888219SCN8Ac.5631T>G (p.Asn1877Lys)
c.5508T>G (p.Asn1836Lys)
c.5664T>G (p.Asn1888Lys)
12g.51807118C>ACA384888221SCN8Ac.5632C>A (p.Pro1878Thr)
c.5509C>A (p.Pro1837Thr)
c.5665C>A (p.Pro1889Thr)
12g.51807118C>GCA384888225SCN8Ac.5632C>G (p.Pro1878Ala)
c.5509C>G (p.Pro1837Ala)
c.5665C>G (p.Pro1889Ala)
12g.51807118C>TCA384888226SCN8Ac.5632C>T (p.Pro1878Ser)
c.5509C>T (p.Pro1837Ser)
c.5665C>T (p.Pro1889Ser)
 COSMIC COSMIC
12g.51807119C>ACA384888227SCN8Ac.5633C>A (p.Pro1878His)
c.5510C>A (p.Pro1837His)
c.5666C>A (p.Pro1889His)
12g.51807119C>GCA384888230SCN8Ac.5633C>G (p.Pro1878Arg)
c.5510C>G (p.Pro1837Arg)
c.5666C>G (p.Pro1889Arg)
 ClinVar
12g.51807119C>TCA384888231SCN8Ac.5633C>T (p.Pro1878Leu)
c.5510C>T (p.Pro1837Leu)
c.5666C>T (p.Pro1889Leu)
12g.51807120T>ACA480062111SCN8Ac.5634T>A (p.Pro1878=)
c.5511T>A (p.Pro1837=)
c.5667T>A (p.Pro1889=)
12g.51807120T>CCA480062116SCN8Ac.5634T>C (p.Pro1878=)
c.5511T>C (p.Pro1837=)
c.5667T>C (p.Pro1889=)
12g.51807120T>GCA480062113SCN8Ac.5634T>G (p.Pro1878=)
c.5511T>G (p.Pro1837=)
c.5667T>G (p.Pro1889=)
12g.51807121T>ACA384888235SCN8Ac.5635T>A (p.Ser1879Thr)
c.5512T>A (p.Ser1838Thr)
c.5668T>A (p.Ser1890Thr)
12g.51807121T>CCA384888238SCN8Ac.5635T>C (p.Ser1879Pro)
c.5512T>C (p.Ser1838Pro)
c.5668T>C (p.Ser1890Pro)
12g.51807121T>GCA384888240SCN8Ac.5635T>G (p.Ser1879Ala)
c.5512T>G (p.Ser1838Ala)
c.5668T>G (p.Ser1890Ala)
12g.51807122C>ACA384888251SCN8Ac.5636C>A (p.Ser1879Tyr)
c.5513C>A (p.Ser1838Tyr)
c.5669C>A (p.Ser1890Tyr)
 ClinVar
12g.51807122C>GCA384888243SCN8Ac.5636C>G (p.Ser1879Cys)
c.5513C>G (p.Ser1838Cys)
c.5669C>G (p.Ser1890Cys)
12g.51807122C>TCA384888247SCN8Ac.5636C>T (p.Ser1879Phe)
c.5513C>T (p.Ser1838Phe)
c.5669C>T (p.Ser1890Phe)
 ClinVar COSMIC COSMIC
12g.51807123C>ACA480062125SCN8Ac.5637C>A (p.Ser1879=)
c.5514C>A (p.Ser1838=)
c.5670C>A (p.Ser1890=)
12g.51807123C>GCA480062126SCN8Ac.5637C>G (p.Ser1879=)
c.5514C>G (p.Ser1838=)
c.5670C>G (p.Ser1890=)
12g.51807123C>TCA480062127SCN8Ac.5637C>T (p.Ser1879=)
c.5514C>T (p.Ser1838=)
c.5670C>T (p.Ser1890=)
12g.51807124A=CA2036194654SCN8Ac.5638A= (p.Lys1880=)
c.5515A= (p.Lys1839=)
c.5671A= (p.Lys1891=)
12g.51807124A>CCA384888253SCN8Ac.5638A>C (p.Lys1880Gln)
c.5515A>C (p.Lys1839Gln)
c.5671A>C (p.Lys1891Gln)
12g.51807124A>GCA384888255SCN8Ac.5638A>G (p.Lys1880Glu)
c.5515A>G (p.Lys1839Glu)
c.5671A>G (p.Lys1891Glu)
 ClinVar dbSNP
12g.51807124A>TCA384888257SCN8Ac.5638A>T (p.Lys1880Ter)
c.5515A>T (p.Lys1839Ter)
c.5671A>T (p.Lys1891Ter)
 dbSNP
12g.51807125_51807126dupCA2618842115SCN8Ac.5639_5640dup (p.Val1881LysfsTer?)
c.5516_5517dup (p.Val1840LysfsTer?)
c.5672_5673dup (p.Val1892LysfsTer?)
 gnomAD v4
12g.51807125A=CA2036194662SCN8Ac.5639A= (p.Lys1880=)
c.5516A= (p.Lys1839=)
c.5672A= (p.Lys1891=)
12g.51807125A>CCA384888258SCN8Ac.5639A>C (p.Lys1880Thr)
c.5516A>C (p.Lys1839Thr)
c.5672A>C (p.Lys1891Thr)
 ClinVar dbSNP
12g.51807125A>GCA384888260SCN8Ac.5639A>G (p.Lys1880Arg)
c.5516A>G (p.Lys1839Arg)
c.5672A>G (p.Lys1891Arg)
12g.51807125A>TCA384888262SCN8Ac.5639A>T (p.Lys1880Ile)
c.5516A>T (p.Lys1839Ile)
c.5672A>T (p.Lys1891Ile)
12g.51807126A=CA2036194673SCN8Ac.5640A= (p.Lys1880=)
c.5517A= (p.Lys1839=)
c.5673A= (p.Lys1891=)
12g.51807126A>CCA384888264SCN8Ac.5640A>C (p.Lys1880Asn)
c.5517A>C (p.Lys1839Asn)
c.5673A>C (p.Lys1891Asn)
 ClinVar dbSNP
12g.51807126A>GCA480062129SCN8Ac.5640A>G (p.Lys1880=)
c.5517A>G (p.Lys1839=)
c.5673A>G (p.Lys1891=)
 gnomAD v4
12g.51807126A>TCA384888267SCN8Ac.5640A>T (p.Lys1880Asn)
c.5517A>T (p.Lys1839Asn)
c.5673A>T (p.Lys1891Asn)
12g.51807127G>ACA384888270SCN8Ac.5641G>A (p.Val1881Met)
c.5518G>A (p.Val1840Met)
c.5674G>A (p.Val1892Met)
12g.51807127G>CCA384888274SCN8Ac.5641G>C (p.Val1881Leu)
c.5518G>C (p.Val1840Leu)
c.5674G>C (p.Val1892Leu)
12g.51807127G>TCA384888276SCN8Ac.5641G>T (p.Val1881Leu)
c.5518G>T (p.Val1840Leu)
c.5674G>T (p.Val1892Leu)
12g.51807128T>ACA384888280SCN8Ac.5642T>A (p.Val1881Glu)
c.5519T>A (p.Val1840Glu)
c.5675T>A (p.Val1892Glu)
12g.51807128T>CCA384888282SCN8Ac.5642T>C (p.Val1881Ala)
c.5519T>C (p.Val1840Ala)
c.5675T>C (p.Val1892Ala)
 ClinVar gnomAD v4
12g.51807128T>GCA384888278SCN8Ac.5642T>G (p.Val1881Gly)
c.5519T>G (p.Val1840Gly)
c.5675T>G (p.Val1892Gly)
12g.51807129G>ACA480062134SCN8Ac.5643G>A (p.Val1881=)
c.5520G>A (p.Val1840=)
c.5676G>A (p.Val1892=)
12g.51807129G>CCA480062136SCN8Ac.5643G>C (p.Val1881=)
c.5520G>C (p.Val1840=)
c.5676G>C (p.Val1892=)
12g.51807129G>TCA480062138SCN8Ac.5643G>T (p.Val1881=)
c.5520G>T (p.Val1840=)
c.5676G>T (p.Val1892=)
12g.51807130T>ACA384888284SCN8Ac.5644T>A (p.Ser1882Thr)
c.5521T>A (p.Ser1841Thr)
c.5677T>A (p.Ser1893Thr)
12g.51807130T>CCA384888285SCN8Ac.5644T>C (p.Ser1882Pro)
c.5521T>C (p.Ser1841Pro)
c.5677T>C (p.Ser1893Pro)
 ClinVar dbSNP
12g.51807130T>GCA384888286SCN8Ac.5644T>G (p.Ser1882Ala)
c.5521T>G (p.Ser1841Ala)
c.5677T>G (p.Ser1893Ala)
12g.51807131C>ACA384888287SCN8Ac.5645C>A (p.Ser1882Tyr)
c.5522C>A (p.Ser1841Tyr)
c.5678C>A (p.Ser1893Tyr)
 ClinVar dbSNP
12g.51807131C=CA2036194688SCN8Ac.5645C= (p.Ser1882=)
c.5522C= (p.Ser1841=)
c.5678C= (p.Ser1893=)
12g.51807131C>GCA384888288SCN8Ac.5645C>G (p.Ser1882Cys)
c.5522C>G (p.Ser1841Cys)
c.5678C>G (p.Ser1893Cys)
12g.51807131C>TCA384888291SCN8Ac.5645C>T (p.Ser1882Phe)
c.5522C>T (p.Ser1841Phe)
c.5678C>T (p.Ser1893Phe)
 ClinVar
12g.51807132T>ACA480062146SCN8Ac.5646T>A (p.Ser1882=)
c.5523T>A (p.Ser1841=)
c.5679T>A (p.Ser1893=)
12g.51807132T>CCA480062147SCN8Ac.5646T>C (p.Ser1882=)
c.5523T>C (p.Ser1841=)
c.5679T>C (p.Ser1893=)
12g.51807132T>GCA480062148SCN8Ac.5646T>G (p.Ser1882=)
c.5523T>G (p.Ser1841=)
c.5679T>G (p.Ser1893=)
12g.51807133T>ACA384888295SCN8Ac.5647T>A (p.Tyr1883Asn)
c.5524T>A (p.Tyr1842Asn)
c.5680T>A (p.Tyr1894Asn)
12g.51807133T>CCA384888296SCN8Ac.5647T>C (p.Tyr1883His)
c.5524T>C (p.Tyr1842His)
c.5680T>C (p.Tyr1894His)
 dbSNP gnomAD v2 gnomAD v4
12g.51807133T>GCA384888299SCN8Ac.5647T>G (p.Tyr1883Asp)
c.5524T>G (p.Tyr1842Asp)
c.5680T>G (p.Tyr1894Asp)
12g.51807133T=CA2036194693SCN8Ac.5647T= (p.Tyr1883=)
c.5524T= (p.Tyr1842=)
c.5680T= (p.Tyr1894=)
12g.51807134A>CCA384888303SCN8Ac.5648A>C (p.Tyr1883Ser)
c.5525A>C (p.Tyr1842Ser)
c.5681A>C (p.Tyr1894Ser)
12g.51807134A>GCA384888304SCN8Ac.5648A>G (p.Tyr1883Cys)
c.5525A>G (p.Tyr1842Cys)
c.5681A>G (p.Tyr1894Cys)
 ClinVar dbSNP
12g.51807134A>TCA384888310SCN8Ac.5648A>T (p.Tyr1883Phe)
c.5525A>T (p.Tyr1842Phe)
c.5681A>T (p.Tyr1894Phe)
12g.51807135C>ACA384888313SCN8Ac.5649C>A (p.Tyr1883Ter)
c.5526C>A (p.Tyr1842Ter)
c.5682C>A (p.Tyr1894Ter)
12g.51807135C=CA2036194696SCN8Ac.5649C= (p.Tyr1883=)
c.5526C= (p.Tyr1842=)
c.5682C= (p.Tyr1894=)
12g.51807135C>GCA384888315SCN8Ac.5649C>G (p.Tyr1883Ter)
c.5526C>G (p.Tyr1842Ter)
c.5682C>G (p.Tyr1894Ter)
12g.51807135C>TCA6571935SCN8Ac.5649C>T (p.Tyr1883=)
c.5526C>T (p.Tyr1842=)
c.5682C>T (p.Tyr1894=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807136G>ACA6571936SCN8Ac.5650G>A (p.Glu1884Lys)
c.5527G>A (p.Glu1843Lys)
c.5683G>A (p.Glu1895Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51807136G>CCA384888322SCN8Ac.5650G>C (p.Glu1884Gln)
c.5527G>C (p.Glu1843Gln)
c.5683G>C (p.Glu1895Gln)
12g.51807136G=CA2036194704SCN8Ac.5650G= (p.Glu1884=)
c.5527G= (p.Glu1843=)
c.5683G= (p.Glu1895=)
12g.51807136G>TCA384888324SCN8Ac.5650G>T (p.Glu1884Ter)
c.5527G>T (p.Glu1843Ter)
c.5683G>T (p.Glu1895Ter)
 dbSNP
12g.51807137A>CCA384888326SCN8Ac.5651A>C (p.Glu1884Ala)
c.5528A>C (p.Glu1843Ala)
c.5684A>C (p.Glu1895Ala)
12g.51807137A>GCA384888331SCN8Ac.5651A>G (p.Glu1884Gly)
c.5528A>G (p.Glu1843Gly)
c.5684A>G (p.Glu1895Gly)
12g.51807137A>TCA384888334SCN8Ac.5651A>T (p.Glu1884Val)
c.5528A>T (p.Glu1843Val)
c.5684A>T (p.Glu1895Val)
12g.51807138G>ACA480062161SCN8Ac.5652G>A (p.Glu1884=)
c.5529G>A (p.Glu1843=)
c.5685G>A (p.Glu1895=)
 dbSNP
12g.51807138G>CCA384888336SCN8Ac.5652G>C (p.Glu1884Asp)
c.5529G>C (p.Glu1843Asp)
c.5685G>C (p.Glu1895Asp)
12g.51807138G=CA2036194711SCN8Ac.5652G= (p.Glu1884=)
c.5529G= (p.Glu1843=)
c.5685G= (p.Glu1895=)
12g.51807138G>TCA384888339SCN8Ac.5652G>T (p.Glu1884Asp)
c.5529G>T (p.Glu1843Asp)
c.5685G>T (p.Glu1895Asp)
12g.51807139C>ACA384888340SCN8Ac.5653C>A (p.Pro1885Thr)
c.5530C>A (p.Pro1844Thr)
c.5686C>A (p.Pro1896Thr)
 COSMIC COSMIC
12g.51807139C>GCA384888341SCN8Ac.5653C>G (p.Pro1885Ala)
c.5530C>G (p.Pro1844Ala)
c.5686C>G (p.Pro1896Ala)
12g.51807139C>TCA384888342SCN8Ac.5653C>T (p.Pro1885Ser)
c.5530C>T (p.Pro1844Ser)
c.5686C>T (p.Pro1896Ser)
12g.51807140C>ACA384888343SCN8Ac.5654C>A (p.Pro1885Gln)
c.5531C>A (p.Pro1844Gln)
c.5687C>A (p.Pro1896Gln)
12g.51807140C>GCA384888344SCN8Ac.5654C>G (p.Pro1885Arg)
c.5531C>G (p.Pro1844Arg)
c.5687C>G (p.Pro1896Arg)
12g.51807140C>TCA384888345SCN8Ac.5654C>T (p.Pro1885Leu)
c.5531C>T (p.Pro1844Leu)
c.5687C>T (p.Pro1896Leu)
12g.51807141A>CCA480062172SCN8Ac.5655A>C (p.Pro1885=)
c.5532A>C (p.Pro1844=)
c.5688A>C (p.Pro1896=)
12g.51807141A>GCA480062170SCN8Ac.5655A>G (p.Pro1885=)
c.5532A>G (p.Pro1844=)
c.5688A>G (p.Pro1896=)
12g.51807141A>TCA480062167SCN8Ac.5655A>T (p.Pro1885=)
c.5532A>T (p.Pro1844=)
c.5688A>T (p.Pro1896=)
 gnomAD v4
12g.51807142A=CA2036194717SCN8Ac.5656A= (p.Ile1886=)
c.5533A= (p.Ile1845=)
c.5689A= (p.Ile1897=)
12g.51807142A>CCA384888349SCN8Ac.5656A>C (p.Ile1886Leu)
c.5533A>C (p.Ile1845Leu)
c.5689A>C (p.Ile1897Leu)
12g.51807142A>GCA384888351SCN8Ac.5656A>G (p.Ile1886Val)
c.5533A>G (p.Ile1845Val)
c.5689A>G (p.Ile1897Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51807142A>TCA384888347SCN8Ac.5656A>T (p.Ile1886Phe)
c.5533A>T (p.Ile1845Phe)
c.5689A>T (p.Ile1897Phe)
12g.51807143T>ACA384888358SCN8Ac.5657T>A (p.Ile1886Asn)
c.5534T>A (p.Ile1845Asn)
c.5690T>A (p.Ile1897Asn)
12g.51807143T>CCA384888354SCN8Ac.5657T>C (p.Ile1886Thr)
c.5534T>C (p.Ile1845Thr)
c.5690T>C (p.Ile1897Thr)
12g.51807143T>GCA384888360SCN8Ac.5657T>G (p.Ile1886Ser)
c.5534T>G (p.Ile1845Ser)
c.5690T>G (p.Ile1897Ser)
12g.51807144C>ACA480062176SCN8Ac.5658C>A (p.Ile1886=)
c.5535C>A (p.Ile1845=)
c.5691C>A (p.Ile1897=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807144C=CA2036194725SCN8Ac.5658C= (p.Ile1886=)
c.5535C= (p.Ile1845=)
c.5691C= (p.Ile1897=)
12g.51807144C>GCA384888364SCN8Ac.5658C>G (p.Ile1886Met)
c.5535C>G (p.Ile1845Met)
c.5691C>G (p.Ile1897Met)
12g.51807144C>TCA480062174SCN8Ac.5658C>T (p.Ile1886=)
c.5535C>T (p.Ile1845=)
c.5691C>T (p.Ile1897=)
12g.51807145A=CA2036194728SCN8Ac.5659A= (p.Thr1887=)
c.5536A= (p.Thr1846=)
c.5692A= (p.Thr1898=)
12g.51807145A>CCA384888378SCN8Ac.5659A>C (p.Thr1887Pro)
c.5536A>C (p.Thr1846Pro)
c.5692A>C (p.Thr1898Pro)
12g.51807145A>GCA384888366SCN8Ac.5659A>G (p.Thr1887Ala)
c.5536A>G (p.Thr1846Ala)
c.5692A>G (p.Thr1898Ala)
 ClinVar dbSNP
12g.51807145A>TCA384888376SCN8Ac.5659A>T (p.Thr1887Ser)
c.5536A>T (p.Thr1846Ser)
c.5692A>T (p.Thr1898Ser)
12g.51807146C>ACA384888381SCN8Ac.5660C>A (p.Thr1887Lys)
c.5537C>A (p.Thr1846Lys)
c.5693C>A (p.Thr1898Lys)
12g.51807146C>GCA384888384SCN8Ac.5660C>G (p.Thr1887Arg)
c.5537C>G (p.Thr1846Arg)
c.5693C>G (p.Thr1898Arg)
12g.51807146C>TCA384888385SCN8Ac.5660C>T (p.Thr1887Ile)
c.5537C>T (p.Thr1846Ile)
c.5693C>T (p.Thr1898Ile)
12g.51807147A>CCA480062181SCN8Ac.5661A>C (p.Thr1887=)
c.5538A>C (p.Thr1846=)
c.5694A>C (p.Thr1898=)
12g.51807147A>GCA480062183SCN8Ac.5661A>G (p.Thr1887=)
c.5538A>G (p.Thr1846=)
c.5694A>G (p.Thr1898=)
12g.51807147A>TCA480062182SCN8Ac.5661A>T (p.Thr1887=)
c.5538A>T (p.Thr1846=)
c.5694A>T (p.Thr1898=)
12g.51807147_51807148insCCCCA2795967145SCN8Ac.5661_5662insCCC (p.Thr1887_Thr1888insPro)
c.5538_5539insCCC (p.Thr1846_Thr1847insPro)
c.5694_5695insCCC (p.Thr1898_Thr1899insPro)
12g.51807148A=CA2036194730SCN8Ac.5662A= (p.Thr1888=)
c.5539A= (p.Thr1847=)
c.5695A= (p.Thr1899=)
12g.51807148A>CCA384888386SCN8Ac.5662A>C (p.Thr1888Pro)
c.5539A>C (p.Thr1847Pro)
c.5695A>C (p.Thr1899Pro)
12g.51807148A>GCA384888387SCN8Ac.5662A>G (p.Thr1888Ala)
c.5539A>G (p.Thr1847Ala)
c.5695A>G (p.Thr1899Ala)
12g.51807148A>TCA6571937SCN8Ac.5662A>T (p.Thr1888Ser)
c.5539A>T (p.Thr1847Ser)
c.5695A>T (p.Thr1899Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.51807149C>ACA384888390SCN8Ac.5663C>A (p.Thr1888Asn)
c.5540C>A (p.Thr1847Asn)
c.5696C>A (p.Thr1899Asn)
12g.51807149C>GCA384888392SCN8Ac.5663C>G (p.Thr1888Ser)
c.5540C>G (p.Thr1847Ser)
c.5696C>G (p.Thr1899Ser)
12g.51807149C>TCA384888401SCN8Ac.5663C>T (p.Thr1888Ile)
c.5540C>T (p.Thr1847Ile)
c.5696C>T (p.Thr1899Ile)
12g.51807150C>ACA480062188SCN8Ac.5664C>A (p.Thr1888=)
c.5541C>A (p.Thr1847=)
c.5697C>A (p.Thr1899=)
12g.51807150C=CA2036194734SCN8Ac.5664C= (p.Thr1888=)
c.5541C= (p.Thr1847=)
c.5697C= (p.Thr1899=)
12g.51807150C>GCA480062189SCN8Ac.5664C>G (p.Thr1888=)
c.5541C>G (p.Thr1847=)
c.5697C>G (p.Thr1899=)
12g.51807150C>TCA480062190SCN8Ac.5664C>T (p.Thr1888=)
c.5541C>T (p.Thr1847=)
c.5697C>T (p.Thr1899=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807151A>CCA384888405SCN8Ac.5665A>C (p.Thr1889Pro)
c.5542A>C (p.Thr1848Pro)
c.5698A>C (p.Thr1900Pro)
12g.51807151A>GCA384888403SCN8Ac.5665A>G (p.Thr1889Ala)
c.5542A>G (p.Thr1848Ala)
c.5698A>G (p.Thr1900Ala)
12g.51807151A>TCA384888402SCN8Ac.5665A>T (p.Thr1889Ser)
c.5542A>T (p.Thr1848Ser)
c.5698A>T (p.Thr1900Ser)
 gnomAD v4
12g.51807152C>ACA384888411SCN8Ac.5666C>A (p.Thr1889Lys)
c.5543C>A (p.Thr1848Lys)
c.5699C>A (p.Thr1900Lys)
12g.51807152C>GCA384888413SCN8Ac.5666C>G (p.Thr1889Arg)
c.5543C>G (p.Thr1848Arg)
c.5699C>G (p.Thr1900Arg)
12g.51807152C>TCA384888414SCN8Ac.5666C>T (p.Thr1889Ile)
c.5543C>T (p.Thr1848Ile)
c.5699C>T (p.Thr1900Ile)
 gnomAD v4
12g.51807153A=CA2036194738SCN8Ac.5667A= (p.Thr1889=)
c.5544A= (p.Thr1848=)
c.5700A= (p.Thr1900=)
12g.51807153A>CCA480062195SCN8Ac.5667A>C (p.Thr1889=)
c.5544A>C (p.Thr1848=)
c.5700A>C (p.Thr1900=)
12g.51807153A>GCA480062197SCN8Ac.5667A>G (p.Thr1889=)
c.5544A>G (p.Thr1848=)
c.5700A>G (p.Thr1900=)
12g.51807153A>TCA480062199SCN8Ac.5667A>T (p.Thr1889=)
c.5544A>T (p.Thr1848=)
c.5700A>T (p.Thr1900=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807154C>ACA384888417SCN8Ac.5668C>A (p.Leu1890Met)
c.5545C>A (p.Leu1849Met)
c.5701C>A (p.Leu1901Met)
12g.51807154C=CA2036194742SCN8Ac.5668C= (p.Leu1890=)
c.5545C= (p.Leu1849=)
c.5701C= (p.Leu1901=)
12g.51807154C>GCA384888418SCN8Ac.5668C>G (p.Leu1890Val)
c.5545C>G (p.Leu1849Val)
c.5701C>G (p.Leu1901Val)
 gnomAD v4
12g.51807154C>TCA480062201SCN8Ac.5668C>T (p.Leu1890=)
c.5545C>T (p.Leu1849=)
c.5701C>T (p.Leu1901=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807155T>ACA384888419SCN8Ac.5669T>A (p.Leu1890Gln)
c.5546T>A (p.Leu1849Gln)
c.5702T>A (p.Leu1901Gln)
12g.51807155T>CCA384888421SCN8Ac.5669T>C (p.Leu1890Pro)
c.5546T>C (p.Leu1849Pro)
c.5702T>C (p.Leu1901Pro)
 ClinVar dbSNP
12g.51807155T>GCA384888426SCN8Ac.5669T>G (p.Leu1890Arg)
c.5546T>G (p.Leu1849Arg)
c.5702T>G (p.Leu1901Arg)
12g.51807156G>ACA6571938SCN8Ac.5670G>A (p.Leu1890=)
c.5547G>A (p.Leu1849=)
c.5703G>A (p.Leu1901=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807156G>CCA480062202SCN8Ac.5670G>C (p.Leu1890=)
c.5547G>C (p.Leu1849=)
c.5703G>C (p.Leu1901=)
12g.51807156G=CA2036194745SCN8Ac.5670G= (p.Leu1890=)
c.5547G= (p.Leu1849=)
c.5703G= (p.Leu1901=)
12g.51807156G>TCA480062204SCN8Ac.5670G>T (p.Leu1890=)
c.5547G>T (p.Leu1849=)
c.5703G>T (p.Leu1901=)
12g.51807157C>ACA384888427SCN8Ac.5671C>A (p.Arg1891Ser)
c.5548C>A (p.Arg1850Ser)
c.5704C>A (p.Arg1902Ser)
12g.51807157C=CA2036194748SCN8Ac.5671C= (p.Arg1891=)
c.5548C= (p.Arg1850=)
c.5704C= (p.Arg1902=)
12g.51807157C>GCA384888429SCN8Ac.5671C>G (p.Arg1891Gly)
c.5548C>G (p.Arg1850Gly)
c.5704C>G (p.Arg1902Gly)
12g.51807157C>TCA6571939SCN8Ac.5671C>T (p.Arg1891Cys)
c.5548C>T (p.Arg1850Cys)
c.5704C>T (p.Arg1902Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807158G>ACA384888435SCN8Ac.5672G>A (p.Arg1891His)
c.5549G>A (p.Arg1850His)
c.5705G>A (p.Arg1902His)
 ClinVar dbSNP gnomAD v4
12g.51807158G>CCA384888433SCN8Ac.5672G>C (p.Arg1891Pro)
c.5549G>C (p.Arg1850Pro)
c.5705G>C (p.Arg1902Pro)
12g.51807158G=CA2036194754SCN8Ac.5672G= (p.Arg1891=)
c.5549G= (p.Arg1850=)
c.5705G= (p.Arg1902=)
12g.51807158G>TCA384888431SCN8Ac.5672G>T (p.Arg1891Leu)
c.5549G>T (p.Arg1850Leu)
c.5705G>T (p.Arg1902Leu)
12g.51807159T>ACA480062205SCN8Ac.5673T>A (p.Arg1891=)
c.5550T>A (p.Arg1850=)
c.5706T>A (p.Arg1902=)
12g.51807159T>CCA480062206SCN8Ac.5673T>C (p.Arg1891=)
c.5550T>C (p.Arg1850=)
c.5706T>C (p.Arg1902=)
 gnomAD v4 COSMIC COSMIC
12g.51807159T>GCA480062207SCN8Ac.5673T>G (p.Arg1891=)
c.5550T>G (p.Arg1850=)
c.5706T>G (p.Arg1902=)
12g.51807160C>ACA384888440SCN8Ac.5674C>A (p.Arg1892Ser)
c.5551C>A (p.Arg1851Ser)
c.5707C>A (p.Arg1903Ser)
 COSMIC COSMIC
12g.51807160C=CA2036194762SCN8Ac.5674C= (p.Arg1892=)
c.5551C= (p.Arg1851=)
c.5707C= (p.Arg1903=)
12g.51807160C>GCA384888443SCN8Ac.5674C>G (p.Arg1892Gly)
c.5551C>G (p.Arg1851Gly)
c.5707C>G (p.Arg1903Gly)
12g.51807160C>TCA384888445SCN8Ac.5674C>T (p.Arg1892Cys)
c.5551C>T (p.Arg1851Cys)
c.5707C>T (p.Arg1903Cys)
 dbSNP gnomAD v2 gnomAD v4
12g.51807161G>ACA384888449SCN8Ac.5675G>A (p.Arg1892His)
c.5552G>A (p.Arg1851His)
c.5708G>A (p.Arg1903His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51807161G>CCA384888453SCN8Ac.5675G>C (p.Arg1892Pro)
c.5552G>C (p.Arg1851Pro)
c.5708G>C (p.Arg1903Pro)
12g.51807161G=CA2036194770SCN8Ac.5675G= (p.Arg1892=)
c.5552G= (p.Arg1851=)
c.5708G= (p.Arg1903=)
12g.51807161G>TCA384888455SCN8Ac.5675G>T (p.Arg1892Leu)
c.5552G>T (p.Arg1851Leu)
c.5708G>T (p.Arg1903Leu)
 ClinVar dbSNP
12g.51807162C>ACA480062215SCN8Ac.5676C>A (p.Arg1892=)
c.5553C>A (p.Arg1851=)
c.5709C>A (p.Arg1903=)
 gnomAD v4
12g.51807162C>GCA480062216SCN8Ac.5676C>G (p.Arg1892=)
c.5553C>G (p.Arg1851=)
c.5709C>G (p.Arg1903=)
12g.51807162C>TCA480062214SCN8Ac.5676C>T (p.Arg1892=)
c.5553C>T (p.Arg1851=)
c.5709C>T (p.Arg1903=)
12g.51807163A>CCA384888466SCN8Ac.5677A>C (p.Lys1893Gln)
c.5554A>C (p.Lys1852Gln)
c.5710A>C (p.Lys1904Gln)
12g.51807163A>GCA384888458SCN8Ac.5677A>G (p.Lys1893Glu)
c.5554A>G (p.Lys1852Glu)
c.5710A>G (p.Lys1904Glu)
12g.51807163A>TCA384888465SCN8Ac.5677A>T (p.Lys1893Ter)
c.5554A>T (p.Lys1852Ter)
c.5710A>T (p.Lys1904Ter)
12g.51807164A>CCA384888469SCN8Ac.5678A>C (p.Lys1893Thr)
c.5555A>C (p.Lys1852Thr)
c.5711A>C (p.Lys1904Thr)
12g.51807164A>GCA384888470SCN8Ac.5678A>G (p.Lys1893Arg)
c.5555A>G (p.Lys1852Arg)
c.5711A>G (p.Lys1904Arg)
12g.51807164A>TCA384888471SCN8Ac.5678A>T (p.Lys1893Met)
c.5555A>T (p.Lys1852Met)
c.5711A>T (p.Lys1904Met)
12g.51807165G>ACA480062220SCN8Ac.5679G>A (p.Lys1893=)
c.5556G>A (p.Lys1852=)
c.5712G>A (p.Lys1904=)
12g.51807165G>CCA384888474SCN8Ac.5679G>C (p.Lys1893Asn)
c.5556G>C (p.Lys1852Asn)
c.5712G>C (p.Lys1904Asn)
12g.51807165G>TCA384888483SCN8Ac.5679G>T (p.Lys1893Asn)
c.5556G>T (p.Lys1852Asn)
c.5712G>T (p.Lys1904Asn)
12g.51807166C>ACA384888487SCN8Ac.5680C>A (p.Gln1894Lys)
c.5557C>A (p.Gln1853Lys)
c.5713C>A (p.Gln1905Lys)
12g.51807166C>GCA384888493SCN8Ac.5680C>G (p.Gln1894Glu)
c.5557C>G (p.Gln1853Glu)
c.5713C>G (p.Gln1905Glu)
12g.51807166C>TCA384888490SCN8Ac.5680C>T (p.Gln1894Ter)
c.5557C>T (p.Gln1853Ter)
c.5713C>T (p.Gln1905Ter)
12g.51807167A>CCA384888496SCN8Ac.5681A>C (p.Gln1894Pro)
c.5558A>C (p.Gln1853Pro)
c.5714A>C (p.Gln1905Pro)
12g.51807167A>GCA384888501SCN8Ac.5681A>G (p.Gln1894Arg)
c.5558A>G (p.Gln1853Arg)
c.5714A>G (p.Gln1905Arg)
12g.51807167A>TCA384888505SCN8Ac.5681A>T (p.Gln1894Leu)
c.5558A>T (p.Gln1853Leu)
c.5714A>T (p.Gln1905Leu)
12g.51807173_51807175delCA2618842224SCN8Ac.5687_5689del (p.Glu1896del)
c.5564_5566del (p.Glu1855del)
c.5720_5722del (p.Glu1907del)
 gnomAD v4
12g.51807168G>ACA480062224SCN8Ac.5682G>A (p.Gln1894=)
c.5559G>A (p.Gln1853=)
c.5715G>A (p.Gln1905=)
 ClinVar dbSNP
12g.51807168G>CCA384888510SCN8Ac.5682G>C (p.Gln1894His)
c.5559G>C (p.Gln1853His)
c.5715G>C (p.Gln1905His)
12g.51807168G>TCA384888527SCN8Ac.5682G>T (p.Gln1894His)
c.5559G>T (p.Gln1853His)
c.5715G>T (p.Gln1905His)
12g.51807169G>ACA384888528SCN8Ac.5683G>A (p.Glu1895Lys)
c.5560G>A (p.Glu1854Lys)
c.5716G>A (p.Glu1906Lys)
 dbSNP
12g.51807169G>CCA384888530SCN8Ac.5683G>C (p.Glu1895Gln)
c.5560G>C (p.Glu1854Gln)
c.5716G>C (p.Glu1906Gln)
 gnomAD v4
12g.51807169G=CA2036194777SCN8Ac.5683G= (p.Glu1895=)
c.5560G= (p.Glu1854=)
c.5716G= (p.Glu1906=)
12g.51807169G>TCA384888531SCN8Ac.5683G>T (p.Glu1895Ter)
c.5560G>T (p.Glu1854Ter)
c.5716G>T (p.Glu1906Ter)
 dbSNP
12g.51807170A>CCA384888534SCN8Ac.5684A>C (p.Glu1895Ala)
c.5561A>C (p.Glu1854Ala)
c.5717A>C (p.Glu1906Ala)
12g.51807170A>GCA384888537SCN8Ac.5684A>G (p.Glu1895Gly)
c.5561A>G (p.Glu1854Gly)
c.5717A>G (p.Glu1906Gly)
12g.51807170A>TCA384888541SCN8Ac.5684A>T (p.Glu1895Val)
c.5561A>T (p.Glu1854Val)
c.5717A>T (p.Glu1906Val)
12g.51807171G>ACA480062230SCN8Ac.5685G>A (p.Glu1895=)
c.5562G>A (p.Glu1854=)
c.5718G>A (p.Glu1906=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807171G>CCA384888547SCN8Ac.5685G>C (p.Glu1895Asp)
c.5562G>C (p.Glu1854Asp)
c.5718G>C (p.Glu1906Asp)
12g.51807171G=CA2036194779SCN8Ac.5685G= (p.Glu1895=)
c.5562G= (p.Glu1854=)
c.5718G= (p.Glu1906=)
12g.51807171G>TCA384888543SCN8Ac.5685G>T (p.Glu1895Asp)
c.5562G>T (p.Glu1854Asp)
c.5718G>T (p.Glu1906Asp)

Number of alleles fetched