Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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)
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)

Number of alleles fetched