Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.88077263C>ACA150917CEP290c.5668G>T (p.Gly1890Ter)
c.6529G>T (p.Gly2177Ter)
c.5761G>T (p.Gly1921Ter)
c.4990G>T (p.Gly1664Ter)
n.968-5050C>A
c.5647G>T (p.Gly1883Ter)
n.6873G>T
n.5674G>T (p.Gly1892Ter)
c.2848G>T (p.Gly950Ter)
ClinVar dbSNP ExAC gnomAD
12g.88077263C>GCA385987459CEP290c.5668G>C (p.Gly1890Arg)
c.6529G>C (p.Gly2177Arg)
c.5761G>C (p.Gly1921Arg)
c.4990G>C (p.Gly1664Arg)
n.968-5050C>G
c.5647G>C (p.Gly1883Arg)
n.6873G>C
n.5674G>C (p.Gly1892Arg)
c.2848G>C (p.Gly950Arg)
12g.88077263C>TCA385987453CEP290c.5668G>A (p.Gly1890Arg)
c.6529G>A (p.Gly2177Arg)
c.5761G>A (p.Gly1921Arg)
c.4990G>A (p.Gly1664Arg)
n.968-5050C>T
c.5647G>A (p.Gly1883Arg)
n.6873G>A
n.5674G>A (p.Gly1892Arg)
c.2848G>A (p.Gly950Arg)
12g.88077264C>ACA385987465CEP290c.5667G>T (p.Glu1889Asp)
c.6528G>T (p.Glu2176Asp)
c.5760G>T (p.Glu1920Asp)
c.4989G>T (p.Glu1663Asp)
n.968-5049C>A
c.5646G>T (p.Glu1882Asp)
n.6872G>T
n.5673G>T (p.Glu1891Asp)
c.2847G>T (p.Glu949Asp)
12g.88077264C>GCA385987463CEP290c.5667G>C (p.Glu1889Asp)
c.6528G>C (p.Glu2176Asp)
c.5760G>C (p.Glu1920Asp)
c.4989G>C (p.Glu1663Asp)
n.968-5049C>G
c.5646G>C (p.Glu1882Asp)
n.6872G>C
n.5673G>C (p.Glu1891Asp)
c.2847G>C (p.Glu949Asp)
12g.88077264C>TCA481072158CEP290c.5667G>A (p.Glu1889=)
c.6528G>A (p.Glu2176=)
c.5760G>A (p.Glu1920=)
c.4989G>A (p.Glu1663=)
n.968-5049C>T
c.5646G>A (p.Glu1882=)
n.6872G>A
n.5673G>A (p.Glu1891=)
c.2847G>A (p.Glu949=)
12g.88077265T>ACA385987469CEP290c.5666A>T (p.Glu1889Val)
c.6527A>T (p.Glu2176Val)
c.5759A>T (p.Glu1920Val)
c.4988A>T (p.Glu1663Val)
n.968-5048T>A
c.5645A>T (p.Glu1882Val)
n.6871A>T
n.5672A>T (p.Glu1891Val)
c.2846A>T (p.Glu949Val)
12g.88077265T>CCA385987471CEP290c.5666A>G (p.Glu1889Gly)
c.6527A>G (p.Glu2176Gly)
c.5759A>G (p.Glu1920Gly)
c.4988A>G (p.Glu1663Gly)
n.968-5048T>C
c.5645A>G (p.Glu1882Gly)
n.6871A>G
n.5672A>G (p.Glu1891Gly)
c.2846A>G (p.Glu949Gly)
12g.88077265T>GCA385987473CEP290c.5666A>C (p.Glu1889Ala)
c.6527A>C (p.Glu2176Ala)
c.5759A>C (p.Glu1920Ala)
c.4988A>C (p.Glu1663Ala)
n.968-5048T>G
c.5645A>C (p.Glu1882Ala)
n.6871A>C
n.5672A>C (p.Glu1891Ala)
c.2846A>C (p.Glu949Ala)
12g.88077266C>ACA385987475CEP290c.5665G>T (p.Glu1889Ter)
c.6526G>T (p.Glu2176Ter)
c.5758G>T (p.Glu1920Ter)
c.4987G>T (p.Glu1663Ter)
n.968-5047C>A
c.5644G>T (p.Glu1882Ter)
n.6870G>T
n.5671G>T (p.Glu1891Ter)
c.2845G>T (p.Glu949Ter)
12g.88077266C>GCA6711680CEP290c.5665G>C (p.Glu1889Gln)
c.6526G>C (p.Glu2176Gln)
c.5758G>C (p.Glu1920Gln)
c.4987G>C (p.Glu1663Gln)
n.968-5047C>G
c.5644G>C (p.Glu1882Gln)
n.6870G>C
n.5671G>C (p.Glu1891Gln)
c.2845G>C (p.Glu949Gln)
ClinVar dbSNP ExAC gnomAD
12g.88077266C>TCA385987476CEP290c.5665G>A (p.Glu1889Lys)
c.6526G>A (p.Glu2176Lys)
c.5758G>A (p.Glu1920Lys)
c.4987G>A (p.Glu1663Lys)
n.968-5047C>T
c.5644G>A (p.Glu1882Lys)
n.6870G>A
n.5671G>A (p.Glu1891Lys)
c.2845G>A (p.Glu949Lys)
12g.88077267T>ACA385987477CEP290c.5664A>T (p.Leu1888Phe)
c.6525A>T (p.Leu2175Phe)
c.5757A>T (p.Leu1919Phe)
c.4986A>T (p.Leu1662Phe)
n.968-5046T>A
c.5643A>T (p.Leu1881Phe)
n.6869A>T
n.5670A>T (p.Leu1890Phe)
c.2844A>T (p.Leu948Phe)
12g.88077267T>CCA481072159CEP290c.5664A>G (p.Leu1888=)
c.6525A>G (p.Leu2175=)
c.5757A>G (p.Leu1919=)
c.4986A>G (p.Leu1662=)
n.968-5046T>C
c.5643A>G (p.Leu1881=)
n.6869A>G
n.5670A>G (p.Leu1890=)
c.2844A>G (p.Leu948=)
12g.88077267T>GCA385987479CEP290c.5664A>C (p.Leu1888Phe)
c.6525A>C (p.Leu2175Phe)
c.5757A>C (p.Leu1919Phe)
c.4986A>C (p.Leu1662Phe)
n.968-5046T>G
c.5643A>C (p.Leu1881Phe)
n.6869A>C
n.5670A>C (p.Leu1890Phe)
c.2844A>C (p.Leu948Phe)
12g.88077268A>CCA385987483CEP290c.5663T>G (p.Leu1888Ter)
c.6524T>G (p.Leu2175Ter)
c.5756T>G (p.Leu1919Ter)
c.4985T>G (p.Leu1662Ter)
n.968-5045A>C
c.5642T>G (p.Leu1881Ter)
n.6868T>G
n.5669T>G (p.Leu1890Ter)
c.2843T>G (p.Leu948Ter)
12g.88077268A>GCA385987486CEP290c.5663T>C (p.Leu1888Ser)
c.6524T>C (p.Leu2175Ser)
c.5756T>C (p.Leu1919Ser)
c.4985T>C (p.Leu1662Ser)
n.968-5045A>G
c.5642T>C (p.Leu1881Ser)
n.6868T>C
n.5669T>C (p.Leu1890Ser)
c.2843T>C (p.Leu948Ser)
12g.88077268A>TCA385987488CEP290c.5663T>A (p.Leu1888Ter)
c.6524T>A (p.Leu2175Ter)
c.5756T>A (p.Leu1919Ter)
c.4985T>A (p.Leu1662Ter)
n.968-5045A>T
c.5642T>A (p.Leu1881Ter)
n.6868T>A
n.5669T>A (p.Leu1890Ter)
c.2843T>A (p.Leu948Ter)
12g.88077269A>CCA385987490CEP290c.5662T>G (p.Leu1888Val)
c.6523T>G (p.Leu2175Val)
c.5755T>G (p.Leu1919Val)
c.4984T>G (p.Leu1662Val)
n.968-5044A>C
c.5641T>G (p.Leu1881Val)
n.6867T>G
n.5668T>G (p.Leu1890Val)
c.2842T>G (p.Leu948Val)
12g.88077269A>GCA481072160CEP290c.5662T>C (p.Leu1888=)
c.6523T>C (p.Leu2175=)
c.5755T>C (p.Leu1919=)
c.4984T>C (p.Leu1662=)
n.968-5044A>G
c.5641T>C (p.Leu1881=)
n.6867T>C
n.5668T>C (p.Leu1890=)
c.2842T>C (p.Leu948=)
12g.88077269A>TCA385987491CEP290c.5662T>A (p.Leu1888Ile)
c.6523T>A (p.Leu2175Ile)
c.5755T>A (p.Leu1919Ile)
c.4984T>A (p.Leu1662Ile)
n.968-5044A>T
c.5641T>A (p.Leu1881Ile)
n.6867T>A
n.5668T>A (p.Leu1890Ile)
c.2842T>A (p.Leu948Ile)
12g.88077270T>ACA385987496CEP290c.5661A>T (p.Gln1887His)
c.6522A>T (p.Gln2174His)
c.5754A>T (p.Gln1918His)
c.4983A>T (p.Gln1661His)
n.968-5043T>A
c.5640A>T (p.Gln1880His)
n.6866A>T
n.5667A>T (p.Gln1889His)
c.2841A>T (p.Gln947His)
12g.88077270T>CCA481072161CEP290c.5661A>G (p.Gln1887=)
c.6522A>G (p.Gln2174=)
c.5754A>G (p.Gln1918=)
c.4983A>G (p.Gln1661=)
n.968-5043T>C
c.5640A>G (p.Gln1880=)
n.6866A>G
n.5667A>G (p.Gln1889=)
c.2841A>G (p.Gln947=)
12g.88077270T>GCA385987497CEP290c.5661A>C (p.Gln1887His)
c.6522A>C (p.Gln2174His)
c.5754A>C (p.Gln1918His)
c.4983A>C (p.Gln1661His)
n.968-5043T>G
c.5640A>C (p.Gln1880His)
n.6866A>C
n.5667A>C (p.Gln1889His)
c.2841A>C (p.Gln947His)
12g.88077271T>ACA385987505CEP290c.5660A>T (p.Gln1887Leu)
c.6521A>T (p.Gln2174Leu)
c.5753A>T (p.Gln1918Leu)
c.4982A>T (p.Gln1661Leu)
n.968-5042T>A
c.5639A>T (p.Gln1880Leu)
n.6865A>T
n.5666A>T (p.Gln1889Leu)
c.2840A>T (p.Gln947Leu)
12g.88077271T>CCA385987508CEP290c.5660A>G (p.Gln1887Arg)
c.6521A>G (p.Gln2174Arg)
c.5753A>G (p.Gln1918Arg)
c.4982A>G (p.Gln1661Arg)
n.968-5042T>C
c.5639A>G (p.Gln1880Arg)
n.6865A>G
n.5666A>G (p.Gln1889Arg)
c.2840A>G (p.Gln947Arg)
12g.88077271T>GCA385987511CEP290c.5660A>C (p.Gln1887Pro)
c.6521A>C (p.Gln2174Pro)
c.5753A>C (p.Gln1918Pro)
c.4982A>C (p.Gln1661Pro)
n.968-5042T>G
c.5639A>C (p.Gln1880Pro)
n.6865A>C
n.5666A>C (p.Gln1889Pro)
c.2840A>C (p.Gln947Pro)
12g.88077272G>ACA385987513CEP290c.5659C>T (p.Gln1887Ter)
c.6520C>T (p.Gln2174Ter)
c.5752C>T (p.Gln1918Ter)
c.4981C>T (p.Gln1661Ter)
n.968-5041G>A
c.5638C>T (p.Gln1880Ter)
n.6864C>T
n.5665C>T (p.Gln1889Ter)
c.2839C>T (p.Gln947Ter)
12g.88077272G>CCA385987516CEP290c.5659C>G (p.Gln1887Glu)
c.6520C>G (p.Gln2174Glu)
c.5752C>G (p.Gln1918Glu)
c.4981C>G (p.Gln1661Glu)
n.968-5041G>C
c.5638C>G (p.Gln1880Glu)
n.6864C>G
n.5665C>G (p.Gln1889Glu)
c.2839C>G (p.Gln947Glu)
12g.88077272G>TCA385987519CEP290c.5659C>A (p.Gln1887Lys)
c.6520C>A (p.Gln2174Lys)
c.5752C>A (p.Gln1918Lys)
c.4981C>A (p.Gln1661Lys)
n.968-5041G>T
c.5638C>A (p.Gln1880Lys)
n.6864C>A
n.5665C>A (p.Gln1889Lys)
c.2839C>A (p.Gln947Lys)
gnomAD
12g.88077273G>ACA481072162CEP290c.5658C>T (p.Asn1886=)
c.6519C>T (p.Asn2173=)
c.5751C>T (p.Asn1917=)
c.4980C>T (p.Asn1660=)
n.968-5040G>A
c.5637C>T (p.Asn1879=)
n.6863C>T
n.5664C>T (p.Asn1888=)
c.2838C>T (p.Asn946=)
12g.88077273G>CCA385987522CEP290c.5658C>G (p.Asn1886Lys)
c.6519C>G (p.Asn2173Lys)
c.5751C>G (p.Asn1917Lys)
c.4980C>G (p.Asn1660Lys)
n.968-5040G>C
c.5637C>G (p.Asn1879Lys)
n.6863C>G
n.5664C>G (p.Asn1888Lys)
c.2838C>G (p.Asn946Lys)
12g.88077273G>TCA385987525CEP290c.5658C>A (p.Asn1886Lys)
c.6519C>A (p.Asn2173Lys)
c.5751C>A (p.Asn1917Lys)
c.4980C>A (p.Asn1660Lys)
n.968-5040G>T
c.5637C>A (p.Asn1879Lys)
n.6863C>A
n.5664C>A (p.Asn1888Lys)
c.2838C>A (p.Asn946Lys)
12g.88077274T>ACA385987528CEP290c.5657A>T (p.Asn1886Ile)
c.6518A>T (p.Asn2173Ile)
c.5750A>T (p.Asn1917Ile)
c.4979A>T (p.Asn1660Ile)
n.968-5039T>A
c.5636A>T (p.Asn1879Ile)
n.6862A>T
n.5663A>T (p.Asn1888Ile)
c.2837A>T (p.Asn946Ile)
12g.88077274T>CCA385987534CEP290c.5657A>G (p.Asn1886Ser)
c.6518A>G (p.Asn2173Ser)
c.5750A>G (p.Asn1917Ser)
c.4979A>G (p.Asn1660Ser)
n.968-5039T>C
c.5636A>G (p.Asn1879Ser)
n.6862A>G
n.5663A>G (p.Asn1888Ser)
c.2837A>G (p.Asn946Ser)
12g.88077274T>GCA385987531CEP290c.5657A>C (p.Asn1886Thr)
c.6518A>C (p.Asn2173Thr)
c.5750A>C (p.Asn1917Thr)
c.4979A>C (p.Asn1660Thr)
n.968-5039T>G
c.5636A>C (p.Asn1879Thr)
n.6862A>C
n.5663A>C (p.Asn1888Thr)
c.2837A>C (p.Asn946Thr)
12g.88077275T>ACA385987537CEP290c.5656A>T (p.Asn1886Tyr)
c.6517A>T (p.Asn2173Tyr)
c.5749A>T (p.Asn1917Tyr)
c.4978A>T (p.Asn1660Tyr)
n.968-5038T>A
c.5635A>T (p.Asn1879Tyr)
n.6861A>T
n.5662A>T (p.Asn1888Tyr)
c.2836A>T (p.Asn946Tyr)
12g.88077275T>CCA385987538CEP290c.5656A>G (p.Asn1886Asp)
c.6517A>G (p.Asn2173Asp)
c.5749A>G (p.Asn1917Asp)
c.4978A>G (p.Asn1660Asp)
n.968-5038T>C
c.5635A>G (p.Asn1879Asp)
n.6861A>G
n.5662A>G (p.Asn1888Asp)
c.2836A>G (p.Asn946Asp)
12g.88077275T>GCA385987539CEP290c.5656A>C (p.Asn1886His)
c.6517A>C (p.Asn2173His)
c.5749A>C (p.Asn1917His)
c.4978A>C (p.Asn1660His)
n.968-5038T>G
c.5635A>C (p.Asn1879His)
n.6861A>C
n.5662A>C (p.Asn1888His)
c.2836A>C (p.Asn946His)
12g.88077276C>ACA385987541CEP290c.5655G>T (p.Glu1885Asp)
c.6516G>T (p.Glu2172Asp)
c.5748G>T (p.Glu1916Asp)
c.4977G>T (p.Glu1659Asp)
n.968-5037C>A
c.5634G>T (p.Glu1878Asp)
n.6860G>T
n.5661G>T (p.Glu1887Asp)
c.2835G>T (p.Glu945Asp)
12g.88077276C>GCA385987543CEP290c.5655G>C (p.Glu1885Asp)
c.6516G>C (p.Glu2172Asp)
c.5748G>C (p.Glu1916Asp)
c.4977G>C (p.Glu1659Asp)
n.968-5037C>G
c.5634G>C (p.Glu1878Asp)
n.6860G>C
n.5661G>C (p.Glu1887Asp)
c.2835G>C (p.Glu945Asp)
gnomAD
12g.88077276C>TCA481072163CEP290c.5655G>A (p.Glu1885=)
c.6516G>A (p.Glu2172=)
c.5748G>A (p.Glu1916=)
c.4977G>A (p.Glu1659=)
n.968-5037C>T
c.5634G>A (p.Glu1878=)
n.6860G>A
n.5661G>A (p.Glu1887=)
c.2835G>A (p.Glu945=)
12g.88077277T>ACA385987545CEP290c.5654A>T (p.Glu1885Val)
c.6515A>T (p.Glu2172Val)
c.5747A>T (p.Glu1916Val)
c.4976A>T (p.Glu1659Val)
n.968-5036T>A
c.5633A>T (p.Glu1878Val)
n.6859A>T
n.5660A>T (p.Glu1887Val)
c.2834A>T (p.Glu945Val)
12g.88077277T>CCA385987547CEP290c.5654A>G (p.Glu1885Gly)
c.6515A>G (p.Glu2172Gly)
c.5747A>G (p.Glu1916Gly)
c.4976A>G (p.Glu1659Gly)
n.968-5036T>C
c.5633A>G (p.Glu1878Gly)
n.6859A>G
n.5660A>G (p.Glu1887Gly)
c.2834A>G (p.Glu945Gly)
12g.88077277T>GCA385987549CEP290c.5654A>C (p.Glu1885Ala)
c.6515A>C (p.Glu2172Ala)
c.5747A>C (p.Glu1916Ala)
c.4976A>C (p.Glu1659Ala)
n.968-5036T>G
c.5633A>C (p.Glu1878Ala)
n.6859A>C
n.5660A>C (p.Glu1887Ala)
c.2834A>C (p.Glu945Ala)
12g.88077278C>ACA385987553CEP290c.5653G>T (p.Glu1885Ter)
c.6514G>T (p.Glu2172Ter)
c.5746G>T (p.Glu1916Ter)
c.4975G>T (p.Glu1659Ter)
n.968-5035C>A
c.5632G>T (p.Glu1878Ter)
n.6858G>T
n.5659G>T (p.Glu1887Ter)
c.2833G>T (p.Glu945Ter)
12g.88077278C>GCA385987556CEP290c.5653G>C (p.Glu1885Gln)
c.6514G>C (p.Glu2172Gln)
c.5746G>C (p.Glu1916Gln)
c.4975G>C (p.Glu1659Gln)
n.968-5035C>G
c.5632G>C (p.Glu1878Gln)
n.6858G>C
n.5659G>C (p.Glu1887Gln)
c.2833G>C (p.Glu945Gln)
12g.88077278C>TCA385987559CEP290c.5653G>A (p.Glu1885Lys)
c.6514G>A (p.Glu2172Lys)
c.5746G>A (p.Glu1916Lys)
c.4975G>A (p.Glu1659Lys)
n.968-5035C>T
c.5632G>A (p.Glu1878Lys)
n.6858G>A
n.5659G>A (p.Glu1887Lys)
c.2833G>A (p.Glu945Lys)
12g.88077279T>ACA481072164CEP290c.5652A>T (p.Leu1884=)
c.6513A>T (p.Leu2171=)
c.5745A>T (p.Leu1915=)
c.4974A>T (p.Leu1658=)
n.968-5034T>A
c.5631A>T (p.Leu1877=)
n.6857A>T
n.5658A>T (p.Leu1886=)
c.2832A>T (p.Leu944=)
12g.88077279T>CCA481072165CEP290c.5652A>G (p.Leu1884=)
c.6513A>G (p.Leu2171=)
c.5745A>G (p.Leu1915=)
c.4974A>G (p.Leu1658=)
n.968-5034T>C
c.5631A>G (p.Leu1877=)
n.6857A>G
n.5658A>G (p.Leu1886=)
c.2832A>G (p.Leu944=)

Number of alleles fetched