Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51807031T>ACA384887385SCN8Ac.5545T>A (p.Phe1849Ile)
c.5422T>A (p.Phe1808Ile)
c.5578T>A (p.Phe1860Ile)
12g.51807031T>CCA384887389SCN8Ac.5545T>C (p.Phe1849Leu)
c.5422T>C (p.Phe1808Leu)
c.5578T>C (p.Phe1860Leu)
12g.51807031T>GCA384887382SCN8Ac.5545T>G (p.Phe1849Val)
c.5422T>G (p.Phe1808Val)
c.5578T>G (p.Phe1860Val)
12g.51807032T>ACA384887398SCN8Ac.5546T>A (p.Phe1849Tyr)
c.5423T>A (p.Phe1808Tyr)
c.5579T>A (p.Phe1860Tyr)
12g.51807032T>CCA384887394SCN8Ac.5546T>C (p.Phe1849Ser)
c.5423T>C (p.Phe1808Ser)
c.5579T>C (p.Phe1860Ser)
12g.51807032T>GCA384887399SCN8Ac.5546T>G (p.Phe1849Cys)
c.5423T>G (p.Phe1808Cys)
c.5579T>G (p.Phe1860Cys)
 dbSNP gnomAD v3 gnomAD v4
12g.51807032T=CA2036194277SCN8Ac.5546T= (p.Phe1849=)
c.5423T= (p.Phe1808=)
c.5579T= (p.Phe1860=)
12g.51807033T>ACA384887400SCN8Ac.5547T>A (p.Phe1849Leu)
c.5424T>A (p.Phe1808Leu)
c.5580T>A (p.Phe1860Leu)
12g.51807033T>CCA480061957SCN8Ac.5547T>C (p.Phe1849=)
c.5424T>C (p.Phe1808=)
c.5580T>C (p.Phe1860=)
12g.51807033T>GCA384887401SCN8Ac.5547T>G (p.Phe1849Leu)
c.5424T>G (p.Phe1808Leu)
c.5580T>G (p.Phe1860Leu)
 ClinVar dbSNP
12g.51807034G>ACA384887404SCN8Ac.5548G>A (p.Ala1850Thr)
c.5425G>A (p.Ala1809Thr)
c.5581G>A (p.Ala1861Thr)
12g.51807034G>CCA384887406SCN8Ac.5548G>C (p.Ala1850Pro)
c.5425G>C (p.Ala1809Pro)
c.5581G>C (p.Ala1861Pro)
12g.51807034G>TCA384887405SCN8Ac.5548G>T (p.Ala1850Ser)
c.5425G>T (p.Ala1809Ser)
c.5581G>T (p.Ala1861Ser)
12g.51807035C>ACA384887409SCN8Ac.5549C>A (p.Ala1850Asp)
c.5426C>A (p.Ala1809Asp)
c.5582C>A (p.Ala1861Asp)
12g.51807035C=CA2036194286SCN8Ac.5549C= (p.Ala1850=)
c.5426C= (p.Ala1809=)
c.5582C= (p.Ala1861=)
12g.51807035C>GCA384887417SCN8Ac.5549C>G (p.Ala1850Gly)
c.5426C>G (p.Ala1809Gly)
c.5582C>G (p.Ala1861Gly)
12g.51807035C>TCA384887413SCN8Ac.5549C>T (p.Ala1850Val)
c.5426C>T (p.Ala1809Val)
c.5582C>T (p.Ala1861Val)
 ClinVar dbSNP
12g.51807036C>ACA480061960SCN8Ac.5550C>A (p.Ala1850=)
c.5427C>A (p.Ala1809=)
c.5583C>A (p.Ala1861=)
12g.51807036C>GCA480061959SCN8Ac.5550C>G (p.Ala1850=)
c.5427C>G (p.Ala1809=)
c.5583C>G (p.Ala1861=)
12g.51807036C>TCA480061961SCN8Ac.5550C>T (p.Ala1850=)
c.5427C>T (p.Ala1809=)
c.5583C>T (p.Ala1861=)
12g.51807037T>ACA384887426SCN8Ac.5551T>A (p.Phe1851Ile)
c.5428T>A (p.Phe1810Ile)
c.5584T>A (p.Phe1862Ile)
12g.51807037T>CCA384887437SCN8Ac.5551T>C (p.Phe1851Leu)
c.5428T>C (p.Phe1810Leu)
c.5584T>C (p.Phe1862Leu)
12g.51807037T>GCA384887431SCN8Ac.5551T>G (p.Phe1851Val)
c.5428T>G (p.Phe1810Val)
c.5584T>G (p.Phe1862Val)
 COSMIC COSMIC
12g.51807038T>ACA384887441SCN8Ac.5552T>A (p.Phe1851Tyr)
c.5429T>A (p.Phe1810Tyr)
c.5585T>A (p.Phe1862Tyr)
12g.51807038T>CCA384887448SCN8Ac.5552T>C (p.Phe1851Ser)
c.5429T>C (p.Phe1810Ser)
c.5585T>C (p.Phe1862Ser)
12g.51807038T>GCA384887444SCN8Ac.5552T>G (p.Phe1851Cys)
c.5429T>G (p.Phe1810Cys)
c.5585T>G (p.Phe1862Cys)
12g.51807039C>ACA384887453SCN8Ac.5553C>A (p.Phe1851Leu)
c.5430C>A (p.Phe1810Leu)
c.5586C>A (p.Phe1862Leu)
12g.51807039C>GCA384887460SCN8Ac.5553C>G (p.Phe1851Leu)
c.5430C>G (p.Phe1810Leu)
c.5586C>G (p.Phe1862Leu)
12g.51807039C>TCA480061966SCN8Ac.5553C>T (p.Phe1851=)
c.5430C>T (p.Phe1810=)
c.5586C>T (p.Phe1862=)
12g.51807040A>CCA384887465SCN8Ac.5554A>C (p.Thr1852Pro)
c.5431A>C (p.Thr1811Pro)
c.5587A>C (p.Thr1863Pro)
12g.51807040A>GCA384887468SCN8Ac.5554A>G (p.Thr1852Ala)
c.5431A>G (p.Thr1811Ala)
c.5587A>G (p.Thr1863Ala)
12g.51807040A>TCA384887473SCN8Ac.5554A>T (p.Thr1852Ser)
c.5431A>T (p.Thr1811Ser)
c.5587A>T (p.Thr1863Ser)
12g.51807041C>ACA384887478SCN8Ac.5555C>A (p.Thr1852Asn)
c.5432C>A (p.Thr1811Asn)
c.5588C>A (p.Thr1863Asn)
12g.51807041C=CA2036194289SCN8Ac.5555C= (p.Thr1852=)
c.5432C= (p.Thr1811=)
c.5588C= (p.Thr1863=)
12g.51807041C>GCA384887503SCN8Ac.5555C>G (p.Thr1852Ser)
c.5432C>G (p.Thr1811Ser)
c.5588C>G (p.Thr1863Ser)
12g.51807041C>TCA318298SCN8Ac.5555C>T (p.Thr1852Ile)
c.5432C>T (p.Thr1811Ile)
c.5588C>T (p.Thr1863Ile)
 ClinVar dbSNP
12g.51807042C>ACA480061971SCN8Ac.5556C>A (p.Thr1852=)
c.5433C>A (p.Thr1811=)
c.5589C>A (p.Thr1863=)
12g.51807042C>GCA480061973SCN8Ac.5556C>G (p.Thr1852=)
c.5433C>G (p.Thr1811=)
c.5589C>G (p.Thr1863=)
12g.51807042C>TCA480061974SCN8Ac.5556C>T (p.Thr1852=)
c.5433C>T (p.Thr1811=)
c.5589C>T (p.Thr1863=)
12g.51807043A=CA2036194295SCN8Ac.5557A= (p.Lys1853=)
c.5434A= (p.Lys1812=)
c.5590A= (p.Lys1864=)
12g.51807043A>CCA384887519SCN8Ac.5557A>C (p.Lys1853Gln)
c.5434A>C (p.Lys1812Gln)
c.5590A>C (p.Lys1864Gln)
12g.51807043A>GCA384887524SCN8Ac.5557A>G (p.Lys1853Glu)
c.5434A>G (p.Lys1812Glu)
c.5590A>G (p.Lys1864Glu)
12g.51807043A>TCA384887530SCN8Ac.5557A>T (p.Lys1853Ter)
c.5434A>T (p.Lys1812Ter)
c.5590A>T (p.Lys1864Ter)
 dbSNP
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
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)
12g.51807071T>CCA384887780SCN8Ac.5585T>C (p.Leu1862Ser)
c.5462T>C (p.Leu1821Ser)
c.5618T>C (p.Leu1873Ser)
12g.51807071T>GCA384887793SCN8Ac.5585T>G (p.Leu1862Trp)
c.5462T>G (p.Leu1821Trp)
c.5618T>G (p.Leu1873Trp)
12g.51807072G>ACA480062021SCN8Ac.5586G>A (p.Leu1862=)
c.5463G>A (p.Leu1821=)
c.5619G>A (p.Leu1873=)
12g.51807072G>CCA384887799SCN8Ac.5586G>C (p.Leu1862Phe)
c.5463G>C (p.Leu1821Phe)
c.5619G>C (p.Leu1873Phe)
12g.51807072G>TCA384887803SCN8Ac.5586G>T (p.Leu1862Phe)
c.5463G>T (p.Leu1821Phe)
c.5619G>T (p.Leu1873Phe)
12g.51807073G>ACA236327721SCN8Ac.5587G>A (p.Asp1863Asn)
c.5464G>A (p.Asp1822Asn)
c.5620G>A (p.Asp1874Asn)
 dbSNP
12g.51807073G>CCA384887810SCN8Ac.5587G>C (p.Asp1863His)
c.5464G>C (p.Asp1822His)
c.5620G>C (p.Asp1874His)
12g.51807073G=CA2036194407SCN8Ac.5587G= (p.Asp1863=)
c.5464G= (p.Asp1822=)
c.5620G= (p.Asp1874=)
12g.51807073G>TCA384887815SCN8Ac.5587G>T (p.Asp1863Tyr)
c.5464G>T (p.Asp1822Tyr)
c.5620G>T (p.Asp1874Tyr)
12g.51807074A>CCA384887820SCN8Ac.5588A>C (p.Asp1863Ala)
c.5465A>C (p.Asp1822Ala)
c.5621A>C (p.Asp1874Ala)
 ClinVar dbSNP
12g.51807074A>GCA384887823SCN8Ac.5588A>G (p.Asp1863Gly)
c.5465A>G (p.Asp1822Gly)
c.5621A>G (p.Asp1874Gly)
12g.51807074A>TCA384887824SCN8Ac.5588A>T (p.Asp1863Val)
c.5465A>T (p.Asp1822Val)
c.5621A>T (p.Asp1874Val)
12g.51807075C>ACA384887825SCN8Ac.5589C>A (p.Asp1863Glu)
c.5466C>A (p.Asp1822Glu)
c.5622C>A (p.Asp1874Glu)
 dbSNP
12g.51807075C=CA2036194417SCN8Ac.5589C= (p.Asp1863=)
c.5466C= (p.Asp1822=)
c.5622C= (p.Asp1874=)
12g.51807075C>GCA384887826SCN8Ac.5589C>G (p.Asp1863Glu)
c.5466C>G (p.Asp1822Glu)
c.5622C>G (p.Asp1874Glu)
12g.51807075C>TCA480062024SCN8Ac.5589C>T (p.Asp1863=)
c.5466C>T (p.Asp1822=)
c.5622C>T (p.Asp1874=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51807076A=CA2036194423SCN8Ac.5590A= (p.Ile1864=)
c.5467A= (p.Ile1823=)
c.5623A= (p.Ile1875=)
12g.51807076A>CCA384887834SCN8Ac.5590A>C (p.Ile1864Leu)
c.5467A>C (p.Ile1823Leu)
c.5623A>C (p.Ile1875Leu)
12g.51807076A>GCA384887832SCN8Ac.5590A>G (p.Ile1864Val)
c.5467A>G (p.Ile1823Val)
c.5623A>G (p.Ile1875Val)
 ClinVar dbSNP
12g.51807076A>TCA384887829SCN8Ac.5590A>T (p.Ile1864Phe)
c.5467A>T (p.Ile1823Phe)
c.5623A>T (p.Ile1875Phe)
12g.51807077T>ACA384887839SCN8Ac.5591T>A (p.Ile1864Asn)
c.5468T>A (p.Ile1823Asn)
c.5624T>A (p.Ile1875Asn)
12g.51807077T>CCA384887845SCN8Ac.5591T>C (p.Ile1864Thr)
c.5468T>C (p.Ile1823Thr)
c.5624T>C (p.Ile1875Thr)
12g.51807077T>GCA384887848SCN8Ac.5591T>G (p.Ile1864Ser)
c.5468T>G (p.Ile1823Ser)
c.5624T>G (p.Ile1875Ser)
12g.51807078C>ACA480062029SCN8Ac.5592C>A (p.Ile1864=)
c.5469C>A (p.Ile1823=)
c.5625C>A (p.Ile1875=)
 gnomAD v4
12g.51807078C>GCA384887852SCN8Ac.5592C>G (p.Ile1864Met)
c.5469C>G (p.Ile1823Met)
c.5625C>G (p.Ile1875Met)
12g.51807078C>TCA480062030SCN8Ac.5592C>T (p.Ile1864=)
c.5469C>T (p.Ile1823=)
c.5625C>T (p.Ile1875=)
 COSMIC COSMIC
12g.51807079C>ACA384887853SCN8Ac.5593C>A (p.Leu1865Met)
c.5470C>A (p.Leu1824Met)
c.5626C>A (p.Leu1876Met)
12g.51807079C=CA2036194429SCN8Ac.5593C= (p.Leu1865=)
c.5470C= (p.Leu1824=)
c.5626C= (p.Leu1876=)
12g.51807079C>GCA384887854SCN8Ac.5593C>G (p.Leu1865Val)
c.5470C>G (p.Leu1824Val)
c.5626C>G (p.Leu1876Val)
 ClinVar dbSNP
12g.51807079C>TCA480062032SCN8Ac.5593C>T (p.Leu1865=)
c.5470C>T (p.Leu1824=)
c.5626C>T (p.Leu1876=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807080T>ACA384887858SCN8Ac.5594T>A (p.Leu1865Gln)
c.5471T>A (p.Leu1824Gln)
c.5627T>A (p.Leu1876Gln)
12g.51807080T>CCA384887860SCN8Ac.5594T>C (p.Leu1865Pro)
c.5471T>C (p.Leu1824Pro)
c.5627T>C (p.Leu1876Pro)
 ClinVar
12g.51807080T>GCA384887862SCN8Ac.5594T>G (p.Leu1865Arg)
c.5471T>G (p.Leu1824Arg)
c.5627T>G (p.Leu1876Arg)
12g.51807081G>ACA480062036SCN8Ac.5595G>A (p.Leu1865=)
c.5472G>A (p.Leu1824=)
c.5628G>A (p.Leu1876=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807081G>CCA480062038SCN8Ac.5595G>C (p.Leu1865=)
c.5472G>C (p.Leu1824=)
c.5628G>C (p.Leu1876=)
12g.51807081G=CA2036194434SCN8Ac.5595G= (p.Leu1865=)
c.5472G= (p.Leu1824=)
c.5628G= (p.Leu1876=)
12g.51807081G>TCA480062039SCN8Ac.5595G>T (p.Leu1865=)
c.5472G>T (p.Leu1824=)
c.5628G>T (p.Leu1876=)
12g.51807082C>ACA480062040SCN8Ac.5596C>A (p.Arg1866=)
c.5473C>A (p.Arg1825=)
c.5629C>A (p.Arg1877=)
12g.51807082C=CA2036194443SCN8Ac.5596C= (p.Arg1866=)
c.5473C= (p.Arg1825=)
c.5629C= (p.Arg1877=)
12g.51807082C>GCA384887867SCN8Ac.5596C>G (p.Arg1866Gly)
c.5473C>G (p.Arg1825Gly)
c.5629C>G (p.Arg1877Gly)
12g.51807082C>TCA384887871SCN8Ac.5596C>T (p.Arg1866Trp)
c.5473C>T (p.Arg1825Trp)
c.5629C>T (p.Arg1877Trp)
 ClinVar dbSNP COSMIC COSMIC
12g.51807083G>ACA384887889SCN8Ac.5597G>A (p.Arg1866Gln)
c.5474G>A (p.Arg1825Gln)
c.5630G>A (p.Arg1877Gln)
 ClinVar dbSNP
12g.51807083G>CCA384887887SCN8Ac.5597G>C (p.Arg1866Pro)
c.5474G>C (p.Arg1825Pro)
c.5630G>C (p.Arg1877Pro)
12g.51807083G=CA2036194462SCN8Ac.5597G= (p.Arg1866=)
c.5474G= (p.Arg1825=)
c.5630G= (p.Arg1877=)
12g.51807083G>TCA384887875SCN8Ac.5597G>T (p.Arg1866Leu)
c.5474G>T (p.Arg1825Leu)
c.5630G>T (p.Arg1877Leu)
12g.51807084delCA2573053704SCN8Ac.5598del (p.Gln1867SerfsTer?)
c.5475del (p.Gln1826SerfsTer?)
c.5631del (p.Gln1878SerfsTer?)
 ClinVar dbSNP
12g.51807084G>ACA236327727SCN8Ac.5598G>A (p.Arg1866=)
c.5475G>A (p.Arg1825=)
c.5631G>A (p.Arg1877=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51807084G>CCA480062043SCN8Ac.5598G>C (p.Arg1866=)
c.5475G>C (p.Arg1825=)
c.5631G>C (p.Arg1877=)
12g.51807084G=CA2036194465SCN8Ac.5598G= (p.Arg1866=)
c.5475G= (p.Arg1825=)
c.5631G= (p.Arg1877=)
12g.51807084G>TCA480062044SCN8Ac.5598G>T (p.Arg1866=)
c.5475G>T (p.Arg1825=)
c.5631G>T (p.Arg1877=)
12g.51807085C>ACA384887902SCN8Ac.5599C>A (p.Gln1867Lys)
c.5476C>A (p.Gln1826Lys)
c.5632C>A (p.Gln1878Lys)
12g.51807085C>GCA384887906SCN8Ac.5599C>G (p.Gln1867Glu)
c.5476C>G (p.Gln1826Glu)
c.5632C>G (p.Gln1878Glu)
12g.51807085C>TCA384887908SCN8Ac.5599C>T (p.Gln1867Ter)
c.5476C>T (p.Gln1826Ter)
c.5632C>T (p.Gln1878Ter)
12g.51807086A>CCA384887913SCN8Ac.5600A>C (p.Gln1867Pro)
c.5477A>C (p.Gln1826Pro)
c.5633A>C (p.Gln1878Pro)
12g.51807086A>GCA384887917SCN8Ac.5600A>G (p.Gln1867Arg)
c.5477A>G (p.Gln1826Arg)
c.5633A>G (p.Gln1878Arg)
12g.51807086A>TCA384887920SCN8Ac.5600A>T (p.Gln1867Leu)
c.5477A>T (p.Gln1826Leu)
c.5633A>T (p.Gln1878Leu)
12g.51807087G>ACA318243SCN8Ac.5601G>A (p.Gln1867=)
c.5478G>A (p.Gln1826=)
c.5634G>A (p.Gln1878=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807087G>CCA384887924SCN8Ac.5601G>C (p.Gln1867His)
c.5478G>C (p.Gln1826His)
c.5634G>C (p.Gln1878His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807087G=CA2036194471SCN8Ac.5601G= (p.Gln1867=)
c.5478G= (p.Gln1826=)
c.5634G= (p.Gln1878=)
12g.51807087G>TCA384887925SCN8Ac.5601G>T (p.Gln1867His)
c.5478G>T (p.Gln1826His)
c.5634G>T (p.Gln1878His)
12g.51807088C>ACA384887926SCN8Ac.5602C>A (p.Gln1868Lys)
c.5479C>A (p.Gln1827Lys)
c.5635C>A (p.Gln1879Lys)
12g.51807088C>GCA384887927SCN8Ac.5602C>G (p.Gln1868Glu)
c.5479C>G (p.Gln1827Glu)
c.5635C>G (p.Gln1879Glu)
12g.51807088C>TCA384887928SCN8Ac.5602C>T (p.Gln1868Ter)
c.5479C>T (p.Gln1827Ter)
c.5635C>T (p.Gln1879Ter)
12g.51807089A>CCA384887941SCN8Ac.5603A>C (p.Gln1868Pro)
c.5480A>C (p.Gln1827Pro)
c.5636A>C (p.Gln1879Pro)
 ClinVar
12g.51807089A>GCA384887960SCN8Ac.5603A>G (p.Gln1868Arg)
c.5480A>G (p.Gln1827Arg)
c.5636A>G (p.Gln1879Arg)
12g.51807089A>TCA384887930SCN8Ac.5603A>T (p.Gln1868Leu)
c.5480A>T (p.Gln1827Leu)
c.5636A>T (p.Gln1879Leu)
12g.51807090G>ACA480062053SCN8Ac.5604G>A (p.Gln1868=)
c.5481G>A (p.Gln1827=)
c.5637G>A (p.Gln1879=)
12g.51807090G>CCA384887971SCN8Ac.5604G>C (p.Gln1868His)
c.5481G>C (p.Gln1827His)
c.5637G>C (p.Gln1879His)
12g.51807090G>TCA384887968SCN8Ac.5604G>T (p.Gln1868His)
c.5481G>T (p.Gln1827His)
c.5637G>T (p.Gln1879His)
12g.51807091A>CCA384887978SCN8Ac.5605A>C (p.Met1869Leu)
c.5482A>C (p.Met1828Leu)
c.5638A>C (p.Met1880Leu)
12g.51807091A>GCA384887974SCN8Ac.5605A>G (p.Met1869Val)
c.5482A>G (p.Met1828Val)
c.5638A>G (p.Met1880Val)
 ClinVar dbSNP
12g.51807091A>TCA384887975SCN8Ac.5605A>T (p.Met1869Leu)
c.5482A>T (p.Met1828Leu)
c.5638A>T (p.Met1880Leu)
12g.51807092T>ACA384887986SCN8Ac.5606T>A (p.Met1869Lys)
c.5483T>A (p.Met1828Lys)
c.5639T>A (p.Met1880Lys)
12g.51807092T>CCA16619566SCN8Ac.5606T>C (p.Met1869Thr)
c.5483T>C (p.Met1828Thr)
c.5639T>C (p.Met1880Thr)
 ClinVar dbSNP
12g.51807092T>GCA384887987SCN8Ac.5606T>G (p.Met1869Arg)
c.5483T>G (p.Met1828Arg)
c.5639T>G (p.Met1880Arg)
12g.51807092T=CA2036194479SCN8Ac.5606T= (p.Met1869=)
c.5483T= (p.Met1828=)
c.5639T= (p.Met1880=)
12g.51807093G>ACA384887991SCN8Ac.5607G>A (p.Met1869Ile)
c.5484G>A (p.Met1828Ile)
c.5640G>A (p.Met1880Ile)
 ClinVar dbSNP
12g.51807093G>CCA384887993SCN8Ac.5607G>C (p.Met1869Ile)
c.5484G>C (p.Met1828Ile)
c.5640G>C (p.Met1880Ile)
12g.51807093G=CA2036194486SCN8Ac.5607G= (p.Met1869=)
c.5484G= (p.Met1828=)
c.5640G= (p.Met1880=)
12g.51807093G>TCA384887996SCN8Ac.5607G>T (p.Met1869Ile)
c.5484G>T (p.Met1828Ile)
c.5640G>T (p.Met1880Ile)
12g.51807094delCA2697559274SCN8Ac.5608del (p.Glu1870LysfsTer?)
c.5485del (p.Glu1829LysfsTer?)
c.5641del (p.Glu1881LysfsTer?)
 ClinVar
12g.51807094G>ACA384888000SCN8Ac.5608G>A (p.Glu1870Lys)
c.5485G>A (p.Glu1829Lys)
c.5641G>A (p.Glu1881Lys)
12g.51807094G>CCA384888002SCN8Ac.5608G>C (p.Glu1870Gln)
c.5485G>C (p.Glu1829Gln)
c.5641G>C (p.Glu1881Gln)
12g.51807094G=CA2036194497SCN8Ac.5608G= (p.Glu1870=)
c.5485G= (p.Glu1829=)
c.5641G= (p.Glu1881=)
12g.51807094G>TCA384888003SCN8Ac.5608G>T (p.Glu1870Ter)
c.5485G>T (p.Glu1829Ter)
c.5641G>T (p.Glu1881Ter)
 dbSNP
12g.51807095A>CCA384888013SCN8Ac.5609A>C (p.Glu1870Ala)
c.5486A>C (p.Glu1829Ala)
c.5642A>C (p.Glu1881Ala)
12g.51807095A>GCA384888011SCN8Ac.5609A>G (p.Glu1870Gly)
c.5486A>G (p.Glu1829Gly)
c.5642A>G (p.Glu1881Gly)
12g.51807095A>TCA384888007SCN8Ac.5609A>T (p.Glu1870Val)
c.5486A>T (p.Glu1829Val)
c.5642A>T (p.Glu1881Val)
12g.51807096A=CA2036194505SCN8Ac.5610A= (p.Glu1870=)
c.5487A= (p.Glu1829=)
c.5643A= (p.Glu1881=)
12g.51807096A>CCA384888017SCN8Ac.5610A>C (p.Glu1870Asp)
c.5487A>C (p.Glu1829Asp)
c.5643A>C (p.Glu1881Asp)
12g.51807096A>GCA480062067SCN8Ac.5610A>G (p.Glu1870=)
c.5487A>G (p.Glu1829=)
c.5643A>G (p.Glu1881=)
 gnomAD v3 gnomAD v4
12g.51807096A>TCA10586301SCN8Ac.5610A>T (p.Glu1870Asp)
c.5487A>T (p.Glu1829Asp)
c.5643A>T (p.Glu1881Asp)
 ClinVar dbSNP
12g.51807097G>ACA384888031SCN8Ac.5611G>A (p.Glu1871Lys)
c.5488G>A (p.Glu1830Lys)
c.5644G>A (p.Glu1882Lys)
12g.51807097G>CCA384888034SCN8Ac.5611G>C (p.Glu1871Gln)
c.5488G>C (p.Glu1830Gln)
c.5644G>C (p.Glu1882Gln)
12g.51807097G=CA2036194514SCN8Ac.5611G= (p.Glu1871=)
c.5488G= (p.Glu1830=)
c.5644G= (p.Glu1882=)
12g.51807097G>TCA384888037SCN8Ac.5611G>T (p.Glu1871Ter)
c.5488G>T (p.Glu1830Ter)
c.5644G>T (p.Glu1882Ter)
 dbSNP
12g.51807098A>CCA384888040SCN8Ac.5612A>C (p.Glu1871Ala)
c.5489A>C (p.Glu1830Ala)
c.5645A>C (p.Glu1882Ala)
12g.51807098A>GCA384888042SCN8Ac.5612A>G (p.Glu1871Gly)
c.5489A>G (p.Glu1830Gly)
c.5645A>G (p.Glu1882Gly)
12g.51807098A>TCA384888046SCN8Ac.5612A>T (p.Glu1871Val)
c.5489A>T (p.Glu1830Val)
c.5645A>T (p.Glu1882Val)
12g.51807099G>ACA480062072SCN8Ac.5613G>A (p.Glu1871=)
c.5490G>A (p.Glu1830=)
c.5646G>A (p.Glu1882=)
 gnomAD v4
12g.51807099G>CCA384888049SCN8Ac.5613G>C (p.Glu1871Asp)
c.5490G>C (p.Glu1830Asp)
c.5646G>C (p.Glu1882Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807099G=CA2036194518SCN8Ac.5613G= (p.Glu1871=)
c.5490G= (p.Glu1830=)
c.5646G= (p.Glu1882=)
12g.51807099G>TCA384888052SCN8Ac.5613G>T (p.Glu1871Asp)
c.5490G>T (p.Glu1830Asp)
c.5646G>T (p.Glu1882Asp)
12g.51807100C>ACA480062074SCN8Ac.5614C>A (p.Arg1872=)
c.5491C>A (p.Arg1831=)
c.5647C>A (p.Arg1883=)
12g.51807100C=CA2036194535SCN8Ac.5614C= (p.Arg1872=)
c.5491C= (p.Arg1831=)
c.5647C= (p.Arg1883=)
12g.51807100C>GCA384888065SCN8Ac.5614C>G (p.Arg1872Gly)
c.5491C>G (p.Arg1831Gly)
c.5647C>G (p.Arg1883Gly)
 ClinVar dbSNP
12g.51807100C>TCA318300SCN8Ac.5614C>T (p.Arg1872Trp)
c.5491C>T (p.Arg1831Trp)
c.5647C>T (p.Arg1883Trp)
 ClinVar dbSNP COSMIC COSMIC
12g.51807101G>ACA10586302SCN8Ac.5615G>A (p.Arg1872Gln)
c.5492G>A (p.Arg1831Gln)
c.5648G>A (p.Arg1883Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51807101G>CCA384888077SCN8Ac.5615G>C (p.Arg1872Pro)
c.5492G>C (p.Arg1831Pro)
c.5648G>C (p.Arg1883Pro)
12g.51807101G=CA2036194555SCN8Ac.5615G= (p.Arg1872=)
c.5492G= (p.Arg1831=)
c.5648G= (p.Arg1883=)
12g.51807101G>TCA318301SCN8Ac.5615G>T (p.Arg1872Leu)
c.5492G>T (p.Arg1831Leu)
c.5648G>T (p.Arg1883Leu)
 ClinVar dbSNP
12g.51807102G>ACA480062079SCN8Ac.5616G>A (p.Arg1872=)
c.5493G>A (p.Arg1831=)
c.5649G>A (p.Arg1883=)
12g.51807102G>CCA480062077SCN8Ac.5616G>C (p.Arg1872=)
c.5493G>C (p.Arg1831=)
c.5649G>C (p.Arg1883=)
12g.51807102G>TCA480062076SCN8Ac.5616G>T (p.Arg1872=)
c.5493G>T (p.Arg1831=)
c.5649G>T (p.Arg1883=)
12g.51807103T>ACA384888082SCN8Ac.5617T>A (p.Phe1873Ile)
c.5494T>A (p.Phe1832Ile)
c.5650T>A (p.Phe1884Ile)
12g.51807103T>CCA384888086SCN8Ac.5617T>C (p.Phe1873Leu)
c.5494T>C (p.Phe1832Leu)
c.5650T>C (p.Phe1884Leu)
12g.51807103T>GCA384888088SCN8Ac.5617T>G (p.Phe1873Val)
c.5494T>G (p.Phe1832Val)
c.5650T>G (p.Phe1884Val)
 dbSNP
12g.51807103T=CA2036194568SCN8Ac.5617T= (p.Phe1873=)
c.5494T= (p.Phe1832=)
c.5650T= (p.Phe1884=)
12g.51807104T>ACA384888092SCN8Ac.5618T>A (p.Phe1873Tyr)
c.5495T>A (p.Phe1832Tyr)
c.5651T>A (p.Phe1884Tyr)
12g.51807104T>CCA384888095SCN8Ac.5618T>C (p.Phe1873Ser)
c.5495T>C (p.Phe1832Ser)
c.5651T>C (p.Phe1884Ser)
12g.51807104T>GCA384888097SCN8Ac.5618T>G (p.Phe1873Cys)
c.5495T>G (p.Phe1832Cys)
c.5651T>G (p.Phe1884Cys)
12g.51807105_51807107dupCA2697559275SCN8Ac.5619_5621dup (p.Val1874_Ala1875insVal)
c.5496_5498dup (p.Val1833_Ala1834insVal)
c.5652_5654dup (p.Val1885_Ala1886insVal)
 ClinVar
12g.51807105C>ACA384888102SCN8Ac.5619C>A (p.Phe1873Leu)
c.5496C>A (p.Phe1832Leu)
c.5652C>A (p.Phe1884Leu)
12g.51807105C=CA2036194583SCN8Ac.5619C= (p.Phe1873=)
c.5496C= (p.Phe1832=)
c.5652C= (p.Phe1884=)
12g.51807105C>GCA384888106SCN8Ac.5619C>G (p.Phe1873Leu)
c.5496C>G (p.Phe1832Leu)
c.5652C>G (p.Phe1884Leu)
12g.51807105C>TCA6571932SCN8Ac.5619C>T (p.Phe1873=)
c.5496C>T (p.Phe1832=)
c.5652C>T (p.Phe1884=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807106G>ACA6571933SCN8Ac.5620G>A (p.Val1874Met)
c.5497G>A (p.Val1833Met)
c.5653G>A (p.Val1885Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807106G>CCA384888120SCN8Ac.5620G>C (p.Val1874Leu)
c.5497G>C (p.Val1833Leu)
c.5653G>C (p.Val1885Leu)
 ClinVar dbSNP gnomAD v4
12g.51807106G=CA2036194596SCN8Ac.5620G= (p.Val1874=)
c.5497G= (p.Val1833=)
c.5653G= (p.Val1885=)
12g.51807106G>TCA384888123SCN8Ac.5620G>T (p.Val1874Leu)
c.5497G>T (p.Val1833Leu)
c.5653G>T (p.Val1885Leu)
12g.51807107T>ACA384888132SCN8Ac.5621T>A (p.Val1874Glu)
c.5498T>A (p.Val1833Glu)
c.5654T>A (p.Val1885Glu)
12g.51807107T>CCA384888134SCN8Ac.5621T>C (p.Val1874Ala)
c.5498T>C (p.Val1833Ala)
c.5654T>C (p.Val1885Ala)
12g.51807107T>GCA384888128SCN8Ac.5621T>G (p.Val1874Gly)
c.5498T>G (p.Val1833Gly)
c.5654T>G (p.Val1885Gly)
 ClinVar dbSNP
12g.51807107T=CA2036194606SCN8Ac.5621T= (p.Val1874=)
c.5498T= (p.Val1833=)
c.5654T= (p.Val1885=)
12g.51807108G>ACA480062087SCN8Ac.5622G>A (p.Val1874=)
c.5499G>A (p.Val1833=)
c.5655G>A (p.Val1885=)
12g.51807108G>CCA480062089SCN8Ac.5622G>C (p.Val1874=)
c.5499G>C (p.Val1833=)
c.5655G>C (p.Val1885=)
12g.51807108G>TCA480062091SCN8Ac.5622G>T (p.Val1874=)
c.5499G>T (p.Val1833=)
c.5655G>T (p.Val1885=)
12g.51807109G>ACA384888142SCN8Ac.5623G>A (p.Ala1875Thr)
c.5500G>A (p.Ala1834Thr)
c.5656G>A (p.Ala1886Thr)
 dbSNP gnomAD v2 COSMIC COSMIC
12g.51807109G>CCA384888157SCN8Ac.5623G>C (p.Ala1875Pro)
c.5500G>C (p.Ala1834Pro)
c.5656G>C (p.Ala1886Pro)
12g.51807109G=CA2036194615SCN8Ac.5623G= (p.Ala1875=)
c.5500G= (p.Ala1834=)
c.5656G= (p.Ala1886=)
12g.51807109G>TCA384888161SCN8Ac.5623G>T (p.Ala1875Ser)
c.5500G>T (p.Ala1834Ser)
c.5656G>T (p.Ala1886Ser)
 gnomAD v4
12g.51807110C>ACA384888165SCN8Ac.5624C>A (p.Ala1875Glu)
c.5501C>A (p.Ala1834Glu)
c.5657C>A (p.Ala1886Glu)
12g.51807110C=CA2036194636SCN8Ac.5624C= (p.Ala1875=)
c.5501C= (p.Ala1834=)
c.5657C= (p.Ala1886=)
12g.51807110C>GCA384888167SCN8Ac.5624C>G (p.Ala1875Gly)
c.5501C>G (p.Ala1834Gly)
c.5657C>G (p.Ala1886Gly)
12g.51807110C>TCA236327758SCN8Ac.5624C>T (p.Ala1875Val)
c.5501C>T (p.Ala1834Val)
c.5657C>T (p.Ala1886Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51807111A=CA2036194641SCN8Ac.5625A= (p.Ala1875=)
c.5502A= (p.Ala1834=)
c.5658A= (p.Ala1886=)
12g.51807111A>CCA480062093SCN8Ac.5625A>C (p.Ala1875=)
c.5502A>C (p.Ala1834=)
c.5658A>C (p.Ala1886=)
12g.51807111A>GCA480062094SCN8Ac.5625A>G (p.Ala1875=)
c.5502A>G (p.Ala1834=)
c.5658A>G (p.Ala1886=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807111A>TCA480062095SCN8Ac.5625A>T (p.Ala1875=)
c.5502A>T (p.Ala1834=)
c.5658A>T (p.Ala1886=)
12g.51807112T>ACA384888178SCN8Ac.5626T>A (p.Ser1876Thr)
c.5503T>A (p.Ser1835Thr)
c.5659T>A (p.Ser1887Thr)
 gnomAD v4
12g.51807112T>CCA384888180SCN8Ac.5626T>C (p.Ser1876Pro)
c.5503T>C (p.Ser1835Pro)
c.5659T>C (p.Ser1887Pro)
12g.51807112T>GCA384888179SCN8Ac.5626T>G (p.Ser1876Ala)
c.5503T>G (p.Ser1835Ala)
c.5659T>G (p.Ser1887Ala)
12g.51807113C>ACA384888182SCN8Ac.5627C>A (p.Ser1876Tyr)
c.5504C>A (p.Ser1835Tyr)
c.5660C>A (p.Ser1887Tyr)
12g.51807113C>GCA384888184SCN8Ac.5627C>G (p.Ser1876Cys)
c.5504C>G (p.Ser1835Cys)
c.5660C>G (p.Ser1887Cys)
12g.51807113C>TCA384888193SCN8Ac.5627C>T (p.Ser1876Phe)
c.5504C>T (p.Ser1835Phe)
c.5660C>T (p.Ser1887Phe)
12g.51807114C>ACA480062101SCN8Ac.5628C>A (p.Ser1876=)
c.5505C>A (p.Ser1835=)
c.5661C>A (p.Ser1887=)
12g.51807114C=CA2036194646SCN8Ac.5628C= (p.Ser1876=)
c.5505C= (p.Ser1835=)
c.5661C= (p.Ser1887=)
12g.51807114C>GCA480062102SCN8Ac.5628C>G (p.Ser1876=)
c.5505C>G (p.Ser1835=)
c.5661C>G (p.Ser1887=)
12g.51807114C>TCA6571934SCN8Ac.5628C>T (p.Ser1876=)
c.5505C>T (p.Ser1835=)
c.5661C>T (p.Ser1887=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807115A>CCA384888206SCN8Ac.5629A>C (p.Asn1877His)
c.5506A>C (p.Asn1836His)
c.5662A>C (p.Asn1888His)
12g.51807115A>GCA384888202SCN8Ac.5629A>G (p.Asn1877Asp)
c.5506A>G (p.Asn1836Asp)
c.5662A>G (p.Asn1888Asp)
 gnomAD v4
12g.51807115A>TCA384888198SCN8Ac.5629A>T (p.Asn1877Tyr)
c.5506A>T (p.Asn1836Tyr)
c.5662A>T (p.Asn1888Tyr)
12g.51807116A=CA2036194651SCN8Ac.5630A= (p.Asn1877=)
c.5507A= (p.Asn1836=)
c.5663A= (p.Asn1888=)
12g.51807116A>CCA384888210SCN8Ac.5630A>C (p.Asn1877Thr)
c.5507A>C (p.Asn1836Thr)
c.5663A>C (p.Asn1888Thr)
12g.51807116A>GCA289040SCN8Ac.5630A>G (p.Asn1877Ser)
c.5507A>G (p.Asn1836Ser)
c.5663A>G (p.Asn1888Ser)
 ClinVar dbSNP
12g.51807116A>TCA384888214SCN8Ac.5630A>T (p.Asn1877Ile)
c.5507A>T (p.Asn1836Ile)
c.5663A>T (p.Asn1888Ile)
12g.51807117T>ACA384888217SCN8Ac.5631T>A (p.Asn1877Lys)
c.5508T>A (p.Asn1836Lys)
c.5664T>A (p.Asn1888Lys)
12g.51807117T>CCA480062105SCN8Ac.5631T>C (p.Asn1877=)
c.5508T>C (p.Asn1836=)
c.5664T>C (p.Asn1888=)
12g.51807117T>GCA384888219SCN8Ac.5631T>G (p.Asn1877Lys)
c.5508T>G (p.Asn1836Lys)
c.5664T>G (p.Asn1888Lys)
12g.51807118C>ACA384888221SCN8Ac.5632C>A (p.Pro1878Thr)
c.5509C>A (p.Pro1837Thr)
c.5665C>A (p.Pro1889Thr)
12g.51807118C>GCA384888225SCN8Ac.5632C>G (p.Pro1878Ala)
c.5509C>G (p.Pro1837Ala)
c.5665C>G (p.Pro1889Ala)
12g.51807118C>TCA384888226SCN8Ac.5632C>T (p.Pro1878Ser)
c.5509C>T (p.Pro1837Ser)
c.5665C>T (p.Pro1889Ser)
 COSMIC COSMIC
12g.51807119C>ACA384888227SCN8Ac.5633C>A (p.Pro1878His)
c.5510C>A (p.Pro1837His)
c.5666C>A (p.Pro1889His)
12g.51807119C>GCA384888230SCN8Ac.5633C>G (p.Pro1878Arg)
c.5510C>G (p.Pro1837Arg)
c.5666C>G (p.Pro1889Arg)
 ClinVar
12g.51807119C>TCA384888231SCN8Ac.5633C>T (p.Pro1878Leu)
c.5510C>T (p.Pro1837Leu)
c.5666C>T (p.Pro1889Leu)
12g.51807120T>ACA480062111SCN8Ac.5634T>A (p.Pro1878=)
c.5511T>A (p.Pro1837=)
c.5667T>A (p.Pro1889=)
12g.51807120T>CCA480062116SCN8Ac.5634T>C (p.Pro1878=)
c.5511T>C (p.Pro1837=)
c.5667T>C (p.Pro1889=)
12g.51807120T>GCA480062113SCN8Ac.5634T>G (p.Pro1878=)
c.5511T>G (p.Pro1837=)
c.5667T>G (p.Pro1889=)
12g.51807121T>ACA384888235SCN8Ac.5635T>A (p.Ser1879Thr)
c.5512T>A (p.Ser1838Thr)
c.5668T>A (p.Ser1890Thr)
12g.51807121T>CCA384888238SCN8Ac.5635T>C (p.Ser1879Pro)
c.5512T>C (p.Ser1838Pro)
c.5668T>C (p.Ser1890Pro)
12g.51807121T>GCA384888240SCN8Ac.5635T>G (p.Ser1879Ala)
c.5512T>G (p.Ser1838Ala)
c.5668T>G (p.Ser1890Ala)
12g.51807122C>ACA384888251SCN8Ac.5636C>A (p.Ser1879Tyr)
c.5513C>A (p.Ser1838Tyr)
c.5669C>A (p.Ser1890Tyr)
 ClinVar
12g.51807122C>GCA384888243SCN8Ac.5636C>G (p.Ser1879Cys)
c.5513C>G (p.Ser1838Cys)
c.5669C>G (p.Ser1890Cys)
12g.51807122C>TCA384888247SCN8Ac.5636C>T (p.Ser1879Phe)
c.5513C>T (p.Ser1838Phe)
c.5669C>T (p.Ser1890Phe)
 ClinVar COSMIC COSMIC
12g.51807123C>ACA480062125SCN8Ac.5637C>A (p.Ser1879=)
c.5514C>A (p.Ser1838=)
c.5670C>A (p.Ser1890=)
12g.51807123C>GCA480062126SCN8Ac.5637C>G (p.Ser1879=)
c.5514C>G (p.Ser1838=)
c.5670C>G (p.Ser1890=)
12g.51807123C>TCA480062127SCN8Ac.5637C>T (p.Ser1879=)
c.5514C>T (p.Ser1838=)
c.5670C>T (p.Ser1890=)
12g.51807124A=CA2036194654SCN8Ac.5638A= (p.Lys1880=)
c.5515A= (p.Lys1839=)
c.5671A= (p.Lys1891=)
12g.51807124A>CCA384888253SCN8Ac.5638A>C (p.Lys1880Gln)
c.5515A>C (p.Lys1839Gln)
c.5671A>C (p.Lys1891Gln)
12g.51807124A>GCA384888255SCN8Ac.5638A>G (p.Lys1880Glu)
c.5515A>G (p.Lys1839Glu)
c.5671A>G (p.Lys1891Glu)
 ClinVar dbSNP
12g.51807124A>TCA384888257SCN8Ac.5638A>T (p.Lys1880Ter)
c.5515A>T (p.Lys1839Ter)
c.5671A>T (p.Lys1891Ter)
 dbSNP
12g.51807125_51807126dupCA2618842115SCN8Ac.5639_5640dup (p.Val1881LysfsTer?)
c.5516_5517dup (p.Val1840LysfsTer?)
c.5672_5673dup (p.Val1892LysfsTer?)
 gnomAD v4
12g.51807125A=CA2036194662SCN8Ac.5639A= (p.Lys1880=)
c.5516A= (p.Lys1839=)
c.5672A= (p.Lys1891=)
12g.51807125A>CCA384888258SCN8Ac.5639A>C (p.Lys1880Thr)
c.5516A>C (p.Lys1839Thr)
c.5672A>C (p.Lys1891Thr)
 ClinVar dbSNP
12g.51807125A>GCA384888260SCN8Ac.5639A>G (p.Lys1880Arg)
c.5516A>G (p.Lys1839Arg)
c.5672A>G (p.Lys1891Arg)
12g.51807125A>TCA384888262SCN8Ac.5639A>T (p.Lys1880Ile)
c.5516A>T (p.Lys1839Ile)
c.5672A>T (p.Lys1891Ile)
12g.51807126A=CA2036194673SCN8Ac.5640A= (p.Lys1880=)
c.5517A= (p.Lys1839=)
c.5673A= (p.Lys1891=)
12g.51807126A>CCA384888264SCN8Ac.5640A>C (p.Lys1880Asn)
c.5517A>C (p.Lys1839Asn)
c.5673A>C (p.Lys1891Asn)
 ClinVar dbSNP
12g.51807126A>GCA480062129SCN8Ac.5640A>G (p.Lys1880=)
c.5517A>G (p.Lys1839=)
c.5673A>G (p.Lys1891=)
 gnomAD v4
12g.51807126A>TCA384888267SCN8Ac.5640A>T (p.Lys1880Asn)
c.5517A>T (p.Lys1839Asn)
c.5673A>T (p.Lys1891Asn)
12g.51807127G>ACA384888270SCN8Ac.5641G>A (p.Val1881Met)
c.5518G>A (p.Val1840Met)
c.5674G>A (p.Val1892Met)
12g.51807127G>CCA384888274SCN8Ac.5641G>C (p.Val1881Leu)
c.5518G>C (p.Val1840Leu)
c.5674G>C (p.Val1892Leu)
12g.51807127G>TCA384888276SCN8Ac.5641G>T (p.Val1881Leu)
c.5518G>T (p.Val1840Leu)
c.5674G>T (p.Val1892Leu)
12g.51807128T>ACA384888280SCN8Ac.5642T>A (p.Val1881Glu)
c.5519T>A (p.Val1840Glu)
c.5675T>A (p.Val1892Glu)
12g.51807128T>CCA384888282SCN8Ac.5642T>C (p.Val1881Ala)
c.5519T>C (p.Val1840Ala)
c.5675T>C (p.Val1892Ala)
 ClinVar gnomAD v4
12g.51807128T>GCA384888278SCN8Ac.5642T>G (p.Val1881Gly)
c.5519T>G (p.Val1840Gly)
c.5675T>G (p.Val1892Gly)
12g.51807129G>ACA480062134SCN8Ac.5643G>A (p.Val1881=)
c.5520G>A (p.Val1840=)
c.5676G>A (p.Val1892=)
12g.51807129G>CCA480062136SCN8Ac.5643G>C (p.Val1881=)
c.5520G>C (p.Val1840=)
c.5676G>C (p.Val1892=)
12g.51807129G>TCA480062138SCN8Ac.5643G>T (p.Val1881=)
c.5520G>T (p.Val1840=)
c.5676G>T (p.Val1892=)
12g.51807130T>ACA384888284SCN8Ac.5644T>A (p.Ser1882Thr)
c.5521T>A (p.Ser1841Thr)
c.5677T>A (p.Ser1893Thr)
12g.51807130T>CCA384888285SCN8Ac.5644T>C (p.Ser1882Pro)
c.5521T>C (p.Ser1841Pro)
c.5677T>C (p.Ser1893Pro)
 ClinVar dbSNP
12g.51807130T>GCA384888286SCN8Ac.5644T>G (p.Ser1882Ala)
c.5521T>G (p.Ser1841Ala)
c.5677T>G (p.Ser1893Ala)
12g.51807131C>ACA384888287SCN8Ac.5645C>A (p.Ser1882Tyr)
c.5522C>A (p.Ser1841Tyr)
c.5678C>A (p.Ser1893Tyr)
 ClinVar dbSNP
12g.51807131C=CA2036194688SCN8Ac.5645C= (p.Ser1882=)
c.5522C= (p.Ser1841=)
c.5678C= (p.Ser1893=)
12g.51807131C>GCA384888288SCN8Ac.5645C>G (p.Ser1882Cys)
c.5522C>G (p.Ser1841Cys)
c.5678C>G (p.Ser1893Cys)
12g.51807131C>TCA384888291SCN8Ac.5645C>T (p.Ser1882Phe)
c.5522C>T (p.Ser1841Phe)
c.5678C>T (p.Ser1893Phe)
 ClinVar

Number of alleles fetched