Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51807052C>ACA384887582SCN8Ac.5566C>A (p.Leu1856Met)
c.5443C>A (p.Leu1815Met)
c.5599C>A (p.Leu1867Met)
12g.51807052C>GCA384887578SCN8Ac.5566C>G (p.Leu1856Val)
c.5443C>G (p.Leu1815Val)
c.5599C>G (p.Leu1867Val)
12g.51807052C>TCA480061990SCN8Ac.5566C>T (p.Leu1856=)
c.5443C>T (p.Leu1815=)
c.5599C>T (p.Leu1867=)
 gnomAD v4
12g.51807053T>ACA384887588SCN8Ac.5567T>A (p.Leu1856Gln)
c.5444T>A (p.Leu1815Gln)
c.5600T>A (p.Leu1867Gln)
12g.51807053T>CCA384887594SCN8Ac.5567T>C (p.Leu1856Pro)
c.5444T>C (p.Leu1815Pro)
c.5600T>C (p.Leu1867Pro)
12g.51807053T>GCA384887597SCN8Ac.5567T>G (p.Leu1856Arg)
c.5444T>G (p.Leu1815Arg)
c.5600T>G (p.Leu1867Arg)
12g.51807054G>ACA480061991SCN8Ac.5568G>A (p.Leu1856=)
c.5445G>A (p.Leu1815=)
c.5601G>A (p.Leu1867=)
12g.51807054G>CCA480061992SCN8Ac.5568G>C (p.Leu1856=)
c.5445G>C (p.Leu1815=)
c.5601G>C (p.Leu1867=)
12g.51807054G>TCA480061993SCN8Ac.5568G>T (p.Leu1856=)
c.5445G>T (p.Leu1815=)
c.5601G>T (p.Leu1867=)
 gnomAD v4
12g.51807056delCA2580086587SCN8Ac.5570del (p.Gly1857GlufsTer?)
c.5447del (p.Gly1816GlufsTer?)
c.5603del (p.Gly1868GlufsTer?)
 ClinVar
12g.51807055G>ACA384887601SCN8Ac.5569G>A (p.Gly1857Arg)
c.5446G>A (p.Gly1816Arg)
c.5602G>A (p.Gly1868Arg)
 COSMIC COSMIC
12g.51807055G>CCA384887602SCN8Ac.5569G>C (p.Gly1857Arg)
c.5446G>C (p.Gly1816Arg)
c.5602G>C (p.Gly1868Arg)
12g.51807055G=CA2036194339SCN8Ac.5569G= (p.Gly1857=)
c.5446G= (p.Gly1816=)
c.5602G= (p.Gly1868=)
12g.51807055G>TCA384887603SCN8Ac.5569G>T (p.Gly1857Ter)
c.5446G>T (p.Gly1816Ter)
c.5602G>T (p.Gly1868Ter)
 dbSNP
12g.51807056G>ACA384887605SCN8Ac.5570G>A (p.Gly1857Glu)
c.5447G>A (p.Gly1816Glu)
c.5603G>A (p.Gly1868Glu)
12g.51807056G>CCA384887606SCN8Ac.5570G>C (p.Gly1857Ala)
c.5447G>C (p.Gly1816Ala)
c.5603G>C (p.Gly1868Ala)
12g.51807056G>TCA384887608SCN8Ac.5570G>T (p.Gly1857Val)
c.5447G>T (p.Gly1816Val)
c.5603G>T (p.Gly1868Val)
12g.51807057A>CCA480061998SCN8Ac.5571A>C (p.Gly1857=)
c.5448A>C (p.Gly1816=)
c.5604A>C (p.Gly1868=)
12g.51807057A>GCA480061999SCN8Ac.5571A>G (p.Gly1857=)
c.5448A>G (p.Gly1816=)
c.5604A>G (p.Gly1868=)
12g.51807057A>TCA480062000SCN8Ac.5571A>T (p.Gly1857=)
c.5448A>T (p.Gly1816=)
c.5604A>T (p.Gly1868=)
12g.51807058G>ACA384887615SCN8Ac.5572G>A (p.Asp1858Asn)
c.5449G>A (p.Asp1817Asn)
c.5605G>A (p.Asp1869Asn)
 COSMIC COSMIC
12g.51807058G>CCA384887618SCN8Ac.5572G>C (p.Asp1858His)
c.5449G>C (p.Asp1817His)
c.5605G>C (p.Asp1869His)
 gnomAD v4
12g.51807058G>TCA384887623SCN8Ac.5572G>T (p.Asp1858Tyr)
c.5449G>T (p.Asp1817Tyr)
c.5605G>T (p.Asp1869Tyr)
12g.51807059A>CCA384887631SCN8Ac.5573A>C (p.Asp1858Ala)
c.5450A>C (p.Asp1817Ala)
c.5606A>C (p.Asp1869Ala)
12g.51807059A>GCA384887639SCN8Ac.5573A>G (p.Asp1858Gly)
c.5450A>G (p.Asp1817Gly)
c.5606A>G (p.Asp1869Gly)
12g.51807059A>TCA384887634SCN8Ac.5573A>T (p.Asp1858Val)
c.5450A>T (p.Asp1817Val)
c.5606A>T (p.Asp1869Val)
12g.51807060T>ACA384887647SCN8Ac.5574T>A (p.Asp1858Glu)
c.5451T>A (p.Asp1817Glu)
c.5607T>A (p.Asp1869Glu)
12g.51807060T>CCA480062004SCN8Ac.5574T>C (p.Asp1858=)
c.5451T>C (p.Asp1817=)
c.5607T>C (p.Asp1869=)
 gnomAD v4
12g.51807060T>GCA384887675SCN8Ac.5574T>G (p.Asp1858Glu)
c.5451T>G (p.Asp1817Glu)
c.5607T>G (p.Asp1869Glu)
12g.51807061A=CA2036194346SCN8Ac.5575A= (p.Ser1859=)
c.5452A= (p.Ser1818=)
c.5608A= (p.Ser1870=)
12g.51807061A>CCA384887683SCN8Ac.5575A>C (p.Ser1859Arg)
c.5452A>C (p.Ser1818Arg)
c.5608A>C (p.Ser1870Arg)
12g.51807061A>GCA384887687SCN8Ac.5575A>G (p.Ser1859Gly)
c.5452A>G (p.Ser1818Gly)
c.5608A>G (p.Ser1870Gly)
 ClinVar dbSNP
12g.51807061A>TCA384887697SCN8Ac.5575A>T (p.Ser1859Cys)
c.5452A>T (p.Ser1818Cys)
c.5608A>T (p.Ser1870Cys)
12g.51807062G>ACA384887701SCN8Ac.5576G>A (p.Ser1859Asn)
c.5453G>A (p.Ser1818Asn)
c.5609G>A (p.Ser1870Asn)
12g.51807062G>CCA384887705SCN8Ac.5576G>C (p.Ser1859Thr)
c.5453G>C (p.Ser1818Thr)
c.5609G>C (p.Ser1870Thr)
 gnomAD v4
12g.51807062G>TCA384887709SCN8Ac.5576G>T (p.Ser1859Ile)
c.5453G>T (p.Ser1818Ile)
c.5609G>T (p.Ser1870Ile)
12g.51807063C>ACA384887714SCN8Ac.5577C>A (p.Ser1859Arg)
c.5454C>A (p.Ser1818Arg)
c.5610C>A (p.Ser1870Arg)
12g.51807063C=CA2036194355SCN8Ac.5577C= (p.Ser1859=)
c.5454C= (p.Ser1818=)
c.5610C= (p.Ser1870=)
12g.51807063C>GCA384887719SCN8Ac.5577C>G (p.Ser1859Arg)
c.5454C>G (p.Ser1818Arg)
c.5610C>G (p.Ser1870Arg)
12g.51807063C>TCA6571930SCN8Ac.5577C>T (p.Ser1859=)
c.5454C>T (p.Ser1818=)
c.5610C>T (p.Ser1870=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807064G>ACA384887740SCN8Ac.5578G>A (p.Gly1860Arg)
c.5455G>A (p.Gly1819Arg)
c.5611G>A (p.Gly1871Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.51807064G>CCA384887741SCN8Ac.5578G>C (p.Gly1860Arg)
c.5455G>C (p.Gly1819Arg)
c.5611G>C (p.Gly1871Arg)
12g.51807064G=CA2036194364SCN8Ac.5578G= (p.Gly1860=)
c.5455G= (p.Gly1819=)
c.5611G= (p.Gly1871=)
12g.51807064G>TCA384887733SCN8Ac.5578G>T (p.Gly1860Trp)
c.5455G>T (p.Gly1819Trp)
c.5611G>T (p.Gly1871Trp)
12g.51807065G>ACA384887747SCN8Ac.5579G>A (p.Gly1860Glu)
c.5456G>A (p.Gly1819Glu)
c.5612G>A (p.Gly1871Glu)
12g.51807065G>CCA384887754SCN8Ac.5579G>C (p.Gly1860Ala)
c.5456G>C (p.Gly1819Ala)
c.5612G>C (p.Gly1871Ala)
12g.51807065G>TCA384887750SCN8Ac.5579G>T (p.Gly1860Val)
c.5456G>T (p.Gly1819Val)
c.5612G>T (p.Gly1871Val)
12g.51807065_51807085dupCA2499221741SCN8Ac.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg)
c.5456_5476dup (p.Arg1825_Gln1826insArgGluLeuAspIleLeuArg)
c.5612_5632dup (p.Arg1877_Gln1878insArgGluLeuAspIleLeuArg)
 ClinVar dbSNP
12g.51807066G>ACA6571931SCN8Ac.5580G>A (p.Gly1860=)
c.5457G>A (p.Gly1819=)
c.5613G>A (p.Gly1871=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807066G>CCA480062007SCN8Ac.5580G>C (p.Gly1860=)
c.5457G>C (p.Gly1819=)
c.5613G>C (p.Gly1871=)

Number of alleles fetched