Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
12g.51807066G=CA2036194374SCN8Ac.5580G= (p.Gly1860=)
c.5457G= (p.Gly1819=)
c.5613G= (p.Gly1871=)
12g.51807066G>TCA480062008SCN8Ac.5580G>T (p.Gly1860=)
c.5457G>T (p.Gly1819=)
c.5613G>T (p.Gly1871=)
12g.51807067G>ACA384887757SCN8Ac.5581G>A (p.Glu1861Lys)
c.5458G>A (p.Glu1820Lys)
c.5614G>A (p.Glu1872Lys)
12g.51807067G>CCA384887759SCN8Ac.5581G>C (p.Glu1861Gln)
c.5458G>C (p.Glu1820Gln)
c.5614G>C (p.Glu1872Gln)
12g.51807067G=CA2036194377SCN8Ac.5581G= (p.Glu1861=)
c.5458G= (p.Glu1820=)
c.5614G= (p.Glu1872=)
12g.51807067G>TCA384887764SCN8Ac.5581G>T (p.Glu1861Ter)
c.5458G>T (p.Glu1820Ter)
c.5614G>T (p.Glu1872Ter)
 dbSNP
12g.51807068A>CCA384887767SCN8Ac.5582A>C (p.Glu1861Ala)
c.5459A>C (p.Glu1820Ala)
c.5615A>C (p.Glu1872Ala)
12g.51807068A>GCA384887768SCN8Ac.5582A>G (p.Glu1861Gly)
c.5459A>G (p.Glu1820Gly)
c.5615A>G (p.Glu1872Gly)
 ClinVar dbSNP
12g.51807068A>TCA384887769SCN8Ac.5582A>T (p.Glu1861Val)
c.5459A>T (p.Glu1820Val)
c.5615A>T (p.Glu1872Val)
12g.51807069G>ACA480062013SCN8Ac.5583G>A (p.Glu1861=)
c.5460G>A (p.Glu1820=)
c.5616G>A (p.Glu1872=)
 gnomAD v4
12g.51807069G>CCA384887770SCN8Ac.5583G>C (p.Glu1861Asp)
c.5460G>C (p.Glu1820Asp)
c.5616G>C (p.Glu1872Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807069G=CA2036194381SCN8Ac.5583G= (p.Glu1861=)
c.5460G= (p.Glu1820=)
c.5616G= (p.Glu1872=)
12g.51807069G>TCA384887771SCN8Ac.5583G>T (p.Glu1861Asp)
c.5460G>T (p.Glu1820Asp)
c.5616G>T (p.Glu1872Asp)
12g.51807070T>ACA384887773SCN8Ac.5584T>A (p.Leu1862Met)
c.5461T>A (p.Leu1821Met)
c.5617T>A (p.Leu1873Met)
12g.51807070T>CCA480062014SCN8Ac.5584T>C (p.Leu1862=)
c.5461T>C (p.Leu1821=)
c.5617T>C (p.Leu1873=)
 gnomAD v4
12g.51807070T>GCA384887775SCN8Ac.5584T>G (p.Leu1862Val)
c.5461T>G (p.Leu1821Val)
c.5617T>G (p.Leu1873Val)
 ClinVar
12g.51807071T>ACA384887796SCN8Ac.5585T>A (p.Leu1862Ter)
c.5462T>A (p.Leu1821Ter)
c.5618T>A (p.Leu1873Ter)

Number of alleles fetched