Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51807044A=CA2036194305SCN8Ac.5558A= (p.Lys1853=)
c.5435A= (p.Lys1812=)
c.5591A= (p.Lys1864=)
12g.51807044A>CCA384887546SCN8Ac.5558A>C (p.Lys1853Thr)
c.5435A>C (p.Lys1812Thr)
c.5591A>C (p.Lys1864Thr)
 ClinVar dbSNP
12g.51807044A>GCA384887536SCN8Ac.5558A>G (p.Lys1853Arg)
c.5435A>G (p.Lys1812Arg)
c.5591A>G (p.Lys1864Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807044A>TCA384887537SCN8Ac.5558A>T (p.Lys1853Met)
c.5435A>T (p.Lys1812Met)
c.5591A>T (p.Lys1864Met)
12g.51807045G>ACA6571929SCN8Ac.5559G>A (p.Lys1853=)
c.5436G>A (p.Lys1812=)
c.5592G>A (p.Lys1864=)
 dbSNP ExAC gnomAD v2
12g.51807045G>CCA384887552SCN8Ac.5559G>C (p.Lys1853Asn)
c.5436G>C (p.Lys1812Asn)
c.5592G>C (p.Lys1864Asn)
 ClinVar
12g.51807045G=CA2036194320SCN8Ac.5559G= (p.Lys1853=)
c.5436G= (p.Lys1812=)
c.5592G= (p.Lys1864=)
12g.51807045G>TCA384887555SCN8Ac.5559G>T (p.Lys1853Asn)
c.5436G>T (p.Lys1812Asn)
c.5592G>T (p.Lys1864Asn)
12g.51807046C>ACA480061977SCN8Ac.5560C>A (p.Arg1854=)
c.5437C>A (p.Arg1813=)
c.5593C>A (p.Arg1865=)
12g.51807046C>GCA384887560SCN8Ac.5560C>G (p.Arg1854Gly)
c.5437C>G (p.Arg1813Gly)
c.5593C>G (p.Arg1865Gly)
12g.51807046C>TCA384887561SCN8Ac.5560C>T (p.Arg1854Trp)
c.5437C>T (p.Arg1813Trp)
c.5593C>T (p.Arg1865Trp)
 COSMIC COSMIC
12g.51807047G>ACA236327685SCN8Ac.5561G>A (p.Arg1854Gln)
c.5438G>A (p.Arg1813Gln)
c.5594G>A (p.Arg1865Gln)
 ClinVar dbSNP gnomAD v4
12g.51807047G>CCA384887565SCN8Ac.5561G>C (p.Arg1854Pro)
c.5438G>C (p.Arg1813Pro)
c.5594G>C (p.Arg1865Pro)
12g.51807047G=CA2036194326SCN8Ac.5561G= (p.Arg1854=)
c.5438G= (p.Arg1813=)
c.5594G= (p.Arg1865=)
12g.51807047G>TCA384887566SCN8Ac.5561G>T (p.Arg1854Leu)
c.5438G>T (p.Arg1813Leu)
c.5594G>T (p.Arg1865Leu)
12g.51807048G>ACA480061982SCN8Ac.5562G>A (p.Arg1854=)
c.5439G>A (p.Arg1813=)
c.5595G>A (p.Arg1865=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807048G>CCA480061983SCN8Ac.5562G>C (p.Arg1854=)
c.5439G>C (p.Arg1813=)
c.5595G>C (p.Arg1865=)
12g.51807048G=CA2036194330SCN8Ac.5562G= (p.Arg1854=)
c.5439G= (p.Arg1813=)
c.5595G= (p.Arg1865=)
12g.51807048G>TCA480061984SCN8Ac.5562G>T (p.Arg1854=)
c.5439G>T (p.Arg1813=)
c.5595G>T (p.Arg1865=)
 gnomAD v4
12g.51807049G>ACA384887567SCN8Ac.5563G>A (p.Val1855Ile)
c.5440G>A (p.Val1814Ile)
c.5596G>A (p.Val1866Ile)
12g.51807049G>CCA384887569SCN8Ac.5563G>C (p.Val1855Leu)
c.5440G>C (p.Val1814Leu)
c.5596G>C (p.Val1866Leu)
12g.51807049G>TCA384887570SCN8Ac.5563G>T (p.Val1855Phe)
c.5440G>T (p.Val1814Phe)
c.5596G>T (p.Val1866Phe)
12g.51807050T>ACA384887577SCN8Ac.5564T>A (p.Val1855Asp)
c.5441T>A (p.Val1814Asp)
c.5597T>A (p.Val1866Asp)
 ClinVar dbSNP
12g.51807050T>CCA384887576SCN8Ac.5564T>C (p.Val1855Ala)
c.5441T>C (p.Val1814Ala)
c.5597T>C (p.Val1866Ala)
12g.51807050T>GCA384887575SCN8Ac.5564T>G (p.Val1855Gly)
c.5441T>G (p.Val1814Gly)
c.5597T>G (p.Val1866Gly)
12g.51807051C>ACA480061989SCN8Ac.5565C>A (p.Val1855=)
c.5442C>A (p.Val1814=)
c.5598C>A (p.Val1866=)
12g.51807051C=CA2036194335SCN8Ac.5565C= (p.Val1855=)
c.5442C= (p.Val1814=)
c.5598C= (p.Val1866=)
12g.51807051C>GCA480061988SCN8Ac.5565C>G (p.Val1855=)
c.5442C>G (p.Val1814=)
c.5598C>G (p.Val1866=)
 gnomAD v4
12g.51807051C>TCA480061986SCN8Ac.5565C>T (p.Val1855=)
c.5442C>T (p.Val1814=)
c.5598C>T (p.Val1866=)
 dbSNP
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

Number of alleles fetched