Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.51807172G>ACA384888550SCN8Ac.5686G>A (p.Glu1896Lys)
c.5563G>A (p.Glu1855Lys)
c.5719G>A (p.Glu1907Lys)
 gnomAD v4
12g.51807172G>CCA384888554SCN8Ac.5686G>C (p.Glu1896Gln)
c.5563G>C (p.Glu1855Gln)
c.5719G>C (p.Glu1907Gln)
12g.51807172G=CA2036194782SCN8Ac.5686G= (p.Glu1896=)
c.5563G= (p.Glu1855=)
c.5719G= (p.Glu1907=)
12g.51807172G>TCA384888553SCN8Ac.5686G>T (p.Glu1896Ter)
c.5563G>T (p.Glu1855Ter)
c.5719G>T (p.Glu1907Ter)
 dbSNP
12g.51807173A=CA2036194786SCN8Ac.5687A= (p.Glu1896=)
c.5564A= (p.Glu1855=)
c.5720A= (p.Glu1907=)
12g.51807173A>CCA384888558SCN8Ac.5687A>C (p.Glu1896Ala)
c.5564A>C (p.Glu1855Ala)
c.5720A>C (p.Glu1907Ala)
12g.51807173A>GCA6571940SCN8Ac.5687A>G (p.Glu1896Gly)
c.5564A>G (p.Glu1855Gly)
c.5720A>G (p.Glu1907Gly)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12g.51807173A>TCA384888562SCN8Ac.5687A>T (p.Glu1896Val)
c.5564A>T (p.Glu1855Val)
c.5720A>T (p.Glu1907Val)
12g.51807174G>ACA480062236SCN8Ac.5688G>A (p.Glu1896=)
c.5565G>A (p.Glu1855=)
c.5721G>A (p.Glu1907=)
12g.51807174G>CCA384888565SCN8Ac.5688G>C (p.Glu1896Asp)
c.5565G>C (p.Glu1855Asp)
c.5721G>C (p.Glu1907Asp)
12g.51807174G>TCA384888576SCN8Ac.5688G>T (p.Glu1896Asp)
c.5565G>T (p.Glu1855Asp)
c.5721G>T (p.Glu1907Asp)
12g.51807175G>ACA384888580SCN8Ac.5689G>A (p.Val1897Ile)
c.5566G>A (p.Val1856Ile)
c.5722G>A (p.Val1908Ile)
12g.51807175G>CCA384888584SCN8Ac.5689G>C (p.Val1897Leu)
c.5566G>C (p.Val1856Leu)
c.5722G>C (p.Val1908Leu)
12g.51807175G>TCA384888597SCN8Ac.5689G>T (p.Val1897Leu)
c.5566G>T (p.Val1856Leu)
c.5722G>T (p.Val1908Leu)
12g.51807176T>ACA384888602SCN8Ac.5690T>A (p.Val1897Glu)
c.5567T>A (p.Val1856Glu)
c.5723T>A (p.Val1908Glu)
12g.51807176T>CCA384888605SCN8Ac.5690T>C (p.Val1897Ala)
c.5567T>C (p.Val1856Ala)
c.5723T>C (p.Val1908Ala)
12g.51807176T>GCA384888607SCN8Ac.5690T>G (p.Val1897Gly)
c.5567T>G (p.Val1856Gly)
c.5723T>G (p.Val1908Gly)
12g.51807177A>CCA480062239SCN8Ac.5691A>C (p.Val1897=)
c.5568A>C (p.Val1856=)
c.5724A>C (p.Val1908=)
12g.51807177A>GCA480062241SCN8Ac.5691A>G (p.Val1897=)
c.5568A>G (p.Val1856=)
c.5724A>G (p.Val1908=)
 gnomAD v4
12g.51807177A>TCA480062243SCN8Ac.5691A>T (p.Val1897=)
c.5568A>T (p.Val1856=)
c.5724A>T (p.Val1908=)
12g.51807178T>ACA384888617SCN8Ac.5692T>A (p.Ser1898Thr)
c.5569T>A (p.Ser1857Thr)
c.5725T>A (p.Ser1909Thr)
12g.51807178T>CCA384888615SCN8Ac.5692T>C (p.Ser1898Pro)
c.5569T>C (p.Ser1857Pro)
c.5725T>C (p.Ser1909Pro)
 gnomAD v4
12g.51807178T>GCA384888612SCN8Ac.5692T>G (p.Ser1898Ala)
c.5569T>G (p.Ser1857Ala)
c.5725T>G (p.Ser1909Ala)
 gnomAD v4
12g.51807179C>ACA384888621SCN8Ac.5693C>A (p.Ser1898Tyr)
c.5570C>A (p.Ser1857Tyr)
c.5726C>A (p.Ser1909Tyr)
12g.51807179C>GCA384888624SCN8Ac.5693C>G (p.Ser1898Cys)
c.5570C>G (p.Ser1857Cys)
c.5726C>G (p.Ser1909Cys)
12g.51807179C>TCA384888636SCN8Ac.5693C>T (p.Ser1898Phe)
c.5570C>T (p.Ser1857Phe)
c.5726C>T (p.Ser1909Phe)
12g.51807180T>ACA480062246SCN8Ac.5694T>A (p.Ser1898=)
c.5571T>A (p.Ser1857=)
c.5727T>A (p.Ser1909=)
 ClinVar dbSNP gnomAD v4
12g.51807180T>CCA480062245SCN8Ac.5694T>C (p.Ser1898=)
c.5571T>C (p.Ser1857=)
c.5727T>C (p.Ser1909=)
12g.51807180T>GCA480062244SCN8Ac.5694T>G (p.Ser1898=)
c.5571T>G (p.Ser1857=)
c.5727T>G (p.Ser1909=)
 gnomAD v4
12g.51807180T=CA2036194791SCN8Ac.5694T= (p.Ser1898=)
c.5571T= (p.Ser1857=)
c.5727T= (p.Ser1909=)
12g.51807181G>ACA384888642SCN8Ac.5695G>A (p.Ala1899Thr)
c.5572G>A (p.Ala1858Thr)
c.5728G>A (p.Ala1910Thr)
12g.51807181G>CCA384888644SCN8Ac.5695G>C (p.Ala1899Pro)
c.5572G>C (p.Ala1858Pro)
c.5728G>C (p.Ala1910Pro)
12g.51807181G>TCA384888647SCN8Ac.5695G>T (p.Ala1899Ser)
c.5572G>T (p.Ala1858Ser)
c.5728G>T (p.Ala1910Ser)
12g.51807182C>ACA384888650SCN8Ac.5696C>A (p.Ala1899Glu)
c.5573C>A (p.Ala1858Glu)
c.5729C>A (p.Ala1910Glu)
12g.51807182C=CA2036194797SCN8Ac.5696C= (p.Ala1899=)
c.5573C= (p.Ala1858=)
c.5729C= (p.Ala1910=)
12g.51807182C>GCA384888652SCN8Ac.5696C>G (p.Ala1899Gly)
c.5573C>G (p.Ala1858Gly)
c.5729C>G (p.Ala1910Gly)
12g.51807182C>TCA384888656SCN8Ac.5696C>T (p.Ala1899Val)
c.5573C>T (p.Ala1858Val)
c.5729C>T (p.Ala1910Val)
 ClinVar dbSNP
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)

Number of alleles fetched