Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51807041C>ACA384887478SCN8Ac.5432C>A (p.Thr1811Asn)
c.5555C>A (p.Thr1852Asn)
n.5432C>A (p.Thr1811Asn)
n.5588C>A (p.Thr1863Asn)
n.5555C>A (p.Thr1852Asn)
12g.51807041C>GCA384887503SCN8Ac.5432C>G (p.Thr1811Ser)
c.5555C>G (p.Thr1852Ser)
n.5432C>G (p.Thr1811Ser)
n.5588C>G (p.Thr1863Ser)
n.5555C>G (p.Thr1852Ser)
12g.51807041C>TCA318298SCN8Ac.5432C>T (p.Thr1811Ile)
c.5555C>T (p.Thr1852Ile)
n.5432C>T (p.Thr1811Ile)
n.5588C>T (p.Thr1863Ile)
n.5555C>T (p.Thr1852Ile)
ClinVar dbSNP
12g.51807042C>ACA480061971SCN8Ac.5433C>A (p.Thr1811=)
c.5556C>A (p.Thr1852=)
n.5433C>A (p.Thr1811=)
n.5589C>A (p.Thr1863=)
n.5556C>A (p.Thr1852=)
12g.51807042C>GCA480061973SCN8Ac.5433C>G (p.Thr1811=)
c.5556C>G (p.Thr1852=)
n.5433C>G (p.Thr1811=)
n.5589C>G (p.Thr1863=)
n.5556C>G (p.Thr1852=)
12g.51807042C>TCA480061974SCN8Ac.5433C>T (p.Thr1811=)
c.5556C>T (p.Thr1852=)
n.5433C>T (p.Thr1811=)
n.5589C>T (p.Thr1863=)
n.5556C>T (p.Thr1852=)
12g.51807043A>CCA384887519SCN8Ac.5434A>C (p.Lys1812Gln)
c.5557A>C (p.Lys1853Gln)
n.5434A>C (p.Lys1812Gln)
n.5590A>C (p.Lys1864Gln)
n.5557A>C (p.Lys1853Gln)
12g.51807043A>GCA384887524SCN8Ac.5434A>G (p.Lys1812Glu)
c.5557A>G (p.Lys1853Glu)
n.5434A>G (p.Lys1812Glu)
n.5590A>G (p.Lys1864Glu)
n.5557A>G (p.Lys1853Glu)
12g.51807043A>TCA384887530SCN8Ac.5434A>T (p.Lys1812Ter)
c.5557A>T (p.Lys1853Ter)
n.5434A>T (p.Lys1812Ter)
n.5590A>T (p.Lys1864Ter)
n.5557A>T (p.Lys1853Ter)
12g.51807044A>CCA384887546SCN8Ac.5435A>C (p.Lys1812Thr)
c.5558A>C (p.Lys1853Thr)
n.5435A>C (p.Lys1812Thr)
n.5591A>C (p.Lys1864Thr)
n.5558A>C (p.Lys1853Thr)
ClinVar
12g.51807044A>GCA384887536SCN8Ac.5435A>G (p.Lys1812Arg)
c.5558A>G (p.Lys1853Arg)
n.5435A>G (p.Lys1812Arg)
n.5591A>G (p.Lys1864Arg)
n.5558A>G (p.Lys1853Arg)
ClinVar gnomAD
12g.51807044A>TCA384887537SCN8Ac.5435A>T (p.Lys1812Met)
c.5558A>T (p.Lys1853Met)
n.5435A>T (p.Lys1812Met)
n.5591A>T (p.Lys1864Met)
n.5558A>T (p.Lys1853Met)
12g.51807045G>ACA6571929SCN8Ac.5436G>A (p.Lys1812=)
c.5559G>A (p.Lys1853=)
n.5436G>A (p.Lys1812=)
n.5592G>A (p.Lys1864=)
n.5559G>A (p.Lys1853=)
dbSNP ExAC gnomAD
12g.51807045G>CCA384887552SCN8Ac.5436G>C (p.Lys1812Asn)
c.5559G>C (p.Lys1853Asn)
n.5436G>C (p.Lys1812Asn)
n.5592G>C (p.Lys1864Asn)
n.5559G>C (p.Lys1853Asn)
12g.51807045G>TCA384887555SCN8Ac.5436G>T (p.Lys1812Asn)
c.5559G>T (p.Lys1853Asn)
n.5436G>T (p.Lys1812Asn)
n.5592G>T (p.Lys1864Asn)
n.5559G>T (p.Lys1853Asn)
12g.51807046C>ACA480061977SCN8Ac.5437C>A (p.Arg1813=)
c.5560C>A (p.Arg1854=)
n.5437C>A (p.Arg1813=)
n.5593C>A (p.Arg1865=)
n.5560C>A (p.Arg1854=)
12g.51807046C>GCA384887560SCN8Ac.5437C>G (p.Arg1813Gly)
c.5560C>G (p.Arg1854Gly)
n.5437C>G (p.Arg1813Gly)
n.5593C>G (p.Arg1865Gly)
n.5560C>G (p.Arg1854Gly)
12g.51807046C>TCA384887561SCN8Ac.5437C>T (p.Arg1813Trp)
c.5560C>T (p.Arg1854Trp)
n.5437C>T (p.Arg1813Trp)
n.5593C>T (p.Arg1865Trp)
n.5560C>T (p.Arg1854Trp)
COSMIC COSMIC
12g.51807047G>ACA236327685SCN8Ac.5438G>A (p.Arg1813Gln)
c.5561G>A (p.Arg1854Gln)
n.5438G>A (p.Arg1813Gln)
n.5594G>A (p.Arg1865Gln)
n.5561G>A (p.Arg1854Gln)
dbSNP
12g.51807047G>CCA384887565SCN8Ac.5438G>C (p.Arg1813Pro)
c.5561G>C (p.Arg1854Pro)
n.5438G>C (p.Arg1813Pro)
n.5594G>C (p.Arg1865Pro)
n.5561G>C (p.Arg1854Pro)
12g.51807047G>TCA384887566SCN8Ac.5438G>T (p.Arg1813Leu)
c.5561G>T (p.Arg1854Leu)
n.5438G>T (p.Arg1813Leu)
n.5594G>T (p.Arg1865Leu)
n.5561G>T (p.Arg1854Leu)
12g.51807048G>ACA480061982SCN8Ac.5439G>A (p.Arg1813=)
c.5562G>A (p.Arg1854=)
n.5439G>A (p.Arg1813=)
n.5595G>A (p.Arg1865=)
n.5562G>A (p.Arg1854=)
gnomAD
12g.51807048G>CCA480061983SCN8Ac.5439G>C (p.Arg1813=)
c.5562G>C (p.Arg1854=)
n.5439G>C (p.Arg1813=)
n.5595G>C (p.Arg1865=)
n.5562G>C (p.Arg1854=)
12g.51807048G>TCA480061984SCN8Ac.5439G>T (p.Arg1813=)
c.5562G>T (p.Arg1854=)
n.5439G>T (p.Arg1813=)
n.5595G>T (p.Arg1865=)
n.5562G>T (p.Arg1854=)
12g.51807049G>ACA384887567SCN8Ac.5440G>A (p.Val1814Ile)
c.5563G>A (p.Val1855Ile)
n.5440G>A (p.Val1814Ile)
n.5596G>A (p.Val1866Ile)
n.5563G>A (p.Val1855Ile)
12g.51807049G>CCA384887569SCN8Ac.5440G>C (p.Val1814Leu)
c.5563G>C (p.Val1855Leu)
n.5440G>C (p.Val1814Leu)
n.5596G>C (p.Val1866Leu)
n.5563G>C (p.Val1855Leu)
12g.51807049G>TCA384887570SCN8Ac.5440G>T (p.Val1814Phe)
c.5563G>T (p.Val1855Phe)
n.5440G>T (p.Val1814Phe)
n.5596G>T (p.Val1866Phe)
n.5563G>T (p.Val1855Phe)
12g.51807050T>ACA384887577SCN8Ac.5441T>A (p.Val1814Asp)
c.5564T>A (p.Val1855Asp)
n.5441T>A (p.Val1814Asp)
n.5597T>A (p.Val1866Asp)
n.5564T>A (p.Val1855Asp)
12g.51807050T>CCA384887576SCN8Ac.5441T>C (p.Val1814Ala)
c.5564T>C (p.Val1855Ala)
n.5441T>C (p.Val1814Ala)
n.5597T>C (p.Val1866Ala)
n.5564T>C (p.Val1855Ala)
12g.51807050T>GCA384887575SCN8Ac.5441T>G (p.Val1814Gly)
c.5564T>G (p.Val1855Gly)
n.5441T>G (p.Val1814Gly)
n.5597T>G (p.Val1866Gly)
n.5564T>G (p.Val1855Gly)
12g.51807051C>ACA480061989SCN8Ac.5442C>A (p.Val1814=)
c.5565C>A (p.Val1855=)
n.5442C>A (p.Val1814=)
n.5598C>A (p.Val1866=)
n.5565C>A (p.Val1855=)
12g.51807051C>GCA480061988SCN8Ac.5442C>G (p.Val1814=)
c.5565C>G (p.Val1855=)
n.5442C>G (p.Val1814=)
n.5598C>G (p.Val1866=)
n.5565C>G (p.Val1855=)
12g.51807051C>TCA480061986SCN8Ac.5442C>T (p.Val1814=)
c.5565C>T (p.Val1855=)
n.5442C>T (p.Val1814=)
n.5598C>T (p.Val1866=)
n.5565C>T (p.Val1855=)
12g.51807052C>ACA384887582SCN8Ac.5443C>A (p.Leu1815Met)
c.5566C>A (p.Leu1856Met)
n.5443C>A (p.Leu1815Met)
n.5599C>A (p.Leu1867Met)
n.5566C>A (p.Leu1856Met)
12g.51807052C>GCA384887578SCN8Ac.5443C>G (p.Leu1815Val)
c.5566C>G (p.Leu1856Val)
n.5443C>G (p.Leu1815Val)
n.5599C>G (p.Leu1867Val)
n.5566C>G (p.Leu1856Val)
12g.51807052C>TCA480061990SCN8Ac.5443C>T (p.Leu1815=)
c.5566C>T (p.Leu1856=)
n.5443C>T (p.Leu1815=)
n.5599C>T (p.Leu1867=)
n.5566C>T (p.Leu1856=)
12g.51807053T>ACA384887588SCN8Ac.5444T>A (p.Leu1815Gln)
c.5567T>A (p.Leu1856Gln)
n.5444T>A (p.Leu1815Gln)
n.5600T>A (p.Leu1867Gln)
n.5567T>A (p.Leu1856Gln)
12g.51807053T>CCA384887594SCN8Ac.5444T>C (p.Leu1815Pro)
c.5567T>C (p.Leu1856Pro)
n.5444T>C (p.Leu1815Pro)
n.5600T>C (p.Leu1867Pro)
n.5567T>C (p.Leu1856Pro)
12g.51807053T>GCA384887597SCN8Ac.5444T>G (p.Leu1815Arg)
c.5567T>G (p.Leu1856Arg)
n.5444T>G (p.Leu1815Arg)
n.5600T>G (p.Leu1867Arg)
n.5567T>G (p.Leu1856Arg)
12g.51807054G>ACA480061991SCN8Ac.5445G>A (p.Leu1815=)
c.5568G>A (p.Leu1856=)
n.5445G>A (p.Leu1815=)
n.5601G>A (p.Leu1867=)
n.5568G>A (p.Leu1856=)
12g.51807054G>CCA480061992SCN8Ac.5445G>C (p.Leu1815=)
c.5568G>C (p.Leu1856=)
n.5445G>C (p.Leu1815=)
n.5601G>C (p.Leu1867=)
n.5568G>C (p.Leu1856=)
12g.51807054G>TCA480061993SCN8Ac.5445G>T (p.Leu1815=)
c.5568G>T (p.Leu1856=)
n.5445G>T (p.Leu1815=)
n.5601G>T (p.Leu1867=)
n.5568G>T (p.Leu1856=)
12g.51807055G>ACA384887601SCN8Ac.5446G>A (p.Gly1816Arg)
c.5569G>A (p.Gly1857Arg)
n.5446G>A (p.Gly1816Arg)
n.5602G>A (p.Gly1868Arg)
n.5569G>A (p.Gly1857Arg)
COSMIC COSMIC
12g.51807055G>CCA384887602SCN8Ac.5446G>C (p.Gly1816Arg)
c.5569G>C (p.Gly1857Arg)
n.5446G>C (p.Gly1816Arg)
n.5602G>C (p.Gly1868Arg)
n.5569G>C (p.Gly1857Arg)
12g.51807055G>TCA384887603SCN8Ac.5446G>T (p.Gly1816Ter)
c.5569G>T (p.Gly1857Ter)
n.5446G>T (p.Gly1816Ter)
n.5602G>T (p.Gly1868Ter)
n.5569G>T (p.Gly1857Ter)
12g.51807056G>ACA384887605SCN8Ac.5447G>A (p.Gly1816Glu)
c.5570G>A (p.Gly1857Glu)
n.5447G>A (p.Gly1816Glu)
n.5603G>A (p.Gly1868Glu)
n.5570G>A (p.Gly1857Glu)
12g.51807056G>CCA384887606SCN8Ac.5447G>C (p.Gly1816Ala)
c.5570G>C (p.Gly1857Ala)
n.5447G>C (p.Gly1816Ala)
n.5603G>C (p.Gly1868Ala)
n.5570G>C (p.Gly1857Ala)
12g.51807056G>TCA384887608SCN8Ac.5447G>T (p.Gly1816Val)
c.5570G>T (p.Gly1857Val)
n.5447G>T (p.Gly1816Val)
n.5603G>T (p.Gly1868Val)
n.5570G>T (p.Gly1857Val)
12g.51807057A>CCA480061998SCN8Ac.5448A>C (p.Gly1816=)
c.5571A>C (p.Gly1857=)
n.5448A>C (p.Gly1816=)
n.5604A>C (p.Gly1868=)
n.5571A>C (p.Gly1857=)
12g.51807057A>GCA480061999SCN8Ac.5448A>G (p.Gly1816=)
c.5571A>G (p.Gly1857=)
n.5448A>G (p.Gly1816=)
n.5604A>G (p.Gly1868=)
n.5571A>G (p.Gly1857=)

Number of alleles fetched