Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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)

Number of alleles fetched