Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806688A>CCA480062232SCN8Ac.5202A>C (p.Gly1734=)
c.3266A>C
c.5079A>C (p.Gly1693=)
c.5235A>C (p.Gly1745=)
 gnomAD v4
12g.51806688A>GCA480062234SCN8Ac.5202A>G (p.Gly1734=)
c.3266A>G
c.5079A>G (p.Gly1693=)
c.5235A>G (p.Gly1745=)
12g.51806688A>TCA480062235SCN8Ac.5202A>T (p.Gly1734=)
c.3266A>T
c.5079A>T (p.Gly1693=)
c.5235A>T (p.Gly1745=)
12g.51806689G>ACA384884482SCN8Ac.5203G>A (p.Asp1735Asn)
c.3267G>A
c.5080G>A (p.Asp1694Asn)
c.5236G>A (p.Asp1746Asn)
12g.51806689G>CCA384884494SCN8Ac.5203G>C (p.Asp1735His)
c.3267G>C
c.5080G>C (p.Asp1694His)
c.5236G>C (p.Asp1746His)
12g.51806689G>TCA384884498SCN8Ac.5203G>T (p.Asp1735Tyr)
c.3267G>T
c.5080G>T (p.Asp1694Tyr)
c.5236G>T (p.Asp1746Tyr)
12g.51806690A>CCA384884506SCN8Ac.5204A>C (p.Asp1735Ala)
c.3268A>C
c.5081A>C (p.Asp1694Ala)
c.5237A>C (p.Asp1746Ala)
12g.51806690A>GCA384884509SCN8Ac.5204A>G (p.Asp1735Gly)
c.3268A>G
c.5081A>G (p.Asp1694Gly)
c.5237A>G (p.Asp1746Gly)
12g.51806690A>TCA384884504SCN8Ac.5204A>T (p.Asp1735Val)
c.3268A>T
c.5081A>T (p.Asp1694Val)
c.5237A>T (p.Asp1746Val)
12g.51806691T>ACA384884518SCN8Ac.5205T>A (p.Asp1735Glu)
c.3269T>A
c.5082T>A (p.Asp1694Glu)
c.5238T>A (p.Asp1746Glu)
12g.51806691T>CCA6571897SCN8Ac.5205T>C (p.Asp1735=)
c.3269T>C
c.5082T>C (p.Asp1694=)
c.5238T>C (p.Asp1746=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806691T>GCA384884517SCN8Ac.5205T>G (p.Asp1735Glu)
c.3269T>G
c.5082T>G (p.Asp1694Glu)
c.5238T>G (p.Asp1746Glu)
12g.51806691T=CA2036193525SCN8Ac.5205T= (p.Asp1735=)
c.3269T=
c.5082T= (p.Asp1694=)
c.5238T= (p.Asp1746=)
12g.51806692T>ACA384884520SCN8Ac.5206T>A (p.Cys1736Ser)
c.3270T>A
c.5083T>A (p.Cys1695Ser)
c.5239T>A (p.Cys1747Ser)
12g.51806692T>CCA384884524SCN8Ac.5206T>C (p.Cys1736Arg)
c.3270T>C
c.5083T>C (p.Cys1695Arg)
c.5239T>C (p.Cys1747Arg)
12g.51806692T>GCA384884527SCN8Ac.5206T>G (p.Cys1736Gly)
c.3270T>G
c.5083T>G (p.Cys1695Gly)
c.5239T>G (p.Cys1747Gly)
12g.51806693G>ACA384884533SCN8Ac.5207G>A (p.Cys1736Tyr)
c.3271G>A
c.5084G>A (p.Cys1695Tyr)
c.5240G>A (p.Cys1747Tyr)
12g.51806693G>CCA384884534SCN8Ac.5207G>C (p.Cys1736Ser)
c.3271G>C
c.5084G>C (p.Cys1695Ser)
c.5240G>C (p.Cys1747Ser)
12g.51806693G=CA2036193529SCN8Ac.5207G= (p.Cys1736=)
c.3271G=
c.5084G= (p.Cys1695=)
c.5240G= (p.Cys1747=)
12g.51806693G>TCA6571898SCN8Ac.5207G>T (p.Cys1736Phe)
c.3271G>T
c.5084G>T (p.Cys1695Phe)
c.5240G>T (p.Cys1747Phe)
 dbSNP ExAC gnomAD v2
12g.51806694T>ACA384884540SCN8Ac.5208T>A (p.Cys1736Ter)
c.3272T>A
c.5085T>A (p.Cys1695Ter)
c.5241T>A (p.Cys1747Ter)
 dbSNP
12g.51806694T>CCA480062248SCN8Ac.5208T>C (p.Cys1736=)
c.3272T>C
c.5085T>C (p.Cys1695=)
c.5241T>C (p.Cys1747=)
12g.51806694T>GCA384884543SCN8Ac.5208T>G (p.Cys1736Trp)
c.3272T>G
c.5085T>G (p.Cys1695Trp)
c.5241T>G (p.Cys1747Trp)
12g.51806694T=CA2036193532SCN8Ac.5208T= (p.Cys1736=)
c.3272T=
c.5085T= (p.Cys1695=)
c.5241T= (p.Cys1747=)
12g.51806695G>ACA384884546SCN8Ac.5209G>A (p.Gly1737Arg)
c.3273G>A
c.5086G>A (p.Gly1696Arg)
c.5242G>A (p.Gly1748Arg)
12g.51806695G>CCA384884547SCN8Ac.5209G>C (p.Gly1737Arg)
c.3273G>C
c.5086G>C (p.Gly1696Arg)
c.5242G>C (p.Gly1748Arg)
12g.51806695G>TCA384884548SCN8Ac.5209G>T (p.Gly1737Trp)
c.3273G>T
c.5086G>T (p.Gly1696Trp)
c.5242G>T (p.Gly1748Trp)
12g.51806696G>ACA384884552SCN8Ac.5210G>A (p.Gly1737Glu)
c.3274G>A
c.5087G>A (p.Gly1696Glu)
c.5243G>A (p.Gly1748Glu)
12g.51806696G>CCA384884554SCN8Ac.5210G>C (p.Gly1737Ala)
c.3274G>C
c.5087G>C (p.Gly1696Ala)
c.5243G>C (p.Gly1748Ala)
12g.51806696G>TCA384884553SCN8Ac.5210G>T (p.Gly1737Val)
c.3274G>T
c.5087G>T (p.Gly1696Val)
c.5243G>T (p.Gly1748Val)
12g.51806697G>ACA480062255SCN8Ac.5211G>A (p.Gly1737=)
c.3275G>A
c.5088G>A (p.Gly1696=)
c.5244G>A (p.Gly1748=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51806697G>CCA480062259SCN8Ac.5211G>C (p.Gly1737=)
c.3275G>C
c.5088G>C (p.Gly1696=)
c.5244G>C (p.Gly1748=)
12g.51806697G=CA2036193535SCN8Ac.5211G= (p.Gly1737=)
c.3275G=
c.5088G= (p.Gly1696=)
c.5244G= (p.Gly1748=)
12g.51806697G>TCA480062256SCN8Ac.5211G>T (p.Gly1737=)
c.3275G>T
c.5088G>T (p.Gly1696=)
c.5244G>T (p.Gly1748=)
12g.51806698A>CCA384884555SCN8Ac.5212A>C (p.Asn1738His)
c.3276A>C
c.5089A>C (p.Asn1697His)
c.5245A>C (p.Asn1749His)
12g.51806698A>GCA384884557SCN8Ac.5212A>G (p.Asn1738Asp)
c.3276A>G
c.5089A>G (p.Asn1697Asp)
c.5245A>G (p.Asn1749Asp)
12g.51806698A>TCA384884560SCN8Ac.5212A>T (p.Asn1738Tyr)
c.3276A>T
c.5089A>T (p.Asn1697Tyr)
c.5245A>T (p.Asn1749Tyr)
12g.51806699A=CA2036193542SCN8Ac.5213A= (p.Asn1738=)
c.3277A=
c.5090A= (p.Asn1697=)
c.5246A= (p.Asn1749=)
12g.51806699A>CCA384884561SCN8Ac.5213A>C (p.Asn1738Thr)
c.3277A>C
c.5090A>C (p.Asn1697Thr)
c.5246A>C (p.Asn1749Thr)
12g.51806699A>GCA6571899SCN8Ac.5213A>G (p.Asn1738Ser)
c.3277A>G
c.5090A>G (p.Asn1697Ser)
c.5246A>G (p.Asn1749Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806699A>TCA384884564SCN8Ac.5213A>T (p.Asn1738Ile)
c.3277A>T
c.5090A>T (p.Asn1697Ile)
c.5246A>T (p.Asn1749Ile)
12g.51806700C>ACA384884567SCN8Ac.5214C>A (p.Asn1738Lys)
c.3278C>A
c.5091C>A (p.Asn1697Lys)
c.5247C>A (p.Asn1749Lys)
12g.51806700C>GCA384884568SCN8Ac.5214C>G (p.Asn1738Lys)
c.3278C>G
c.5091C>G (p.Asn1697Lys)
c.5247C>G (p.Asn1749Lys)
12g.51806700C>TCA480062267SCN8Ac.5214C>T (p.Asn1738=)
c.3278C>T
c.5091C>T (p.Asn1697=)
c.5247C>T (p.Asn1749=)
12g.51806701C>ACA384884571SCN8Ac.5215C>A (p.Pro1739Thr)
c.3279C>A
c.5092C>A (p.Pro1698Thr)
c.5248C>A (p.Pro1750Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.51806701C>GCA384884572SCN8Ac.5215C>G (p.Pro1739Ala)
c.3279C>G
c.5092C>G (p.Pro1698Ala)
c.5248C>G (p.Pro1750Ala)
12g.51806701C>TCA384884575SCN8Ac.5215C>T (p.Pro1739Ser)
c.3279C>T
c.5092C>T (p.Pro1698Ser)
c.5248C>T (p.Pro1750Ser)
12g.51806702C>ACA384884584SCN8Ac.5216C>A (p.Pro1739His)
c.3280C>A
c.5093C>A (p.Pro1698His)
c.5249C>A (p.Pro1750His)
12g.51806702C>GCA384884585SCN8Ac.5216C>G (p.Pro1739Arg)
c.3280C>G
c.5093C>G (p.Pro1698Arg)
c.5249C>G (p.Pro1750Arg)
12g.51806702C>TCA384884581SCN8Ac.5216C>T (p.Pro1739Leu)
c.3280C>T
c.5093C>T (p.Pro1698Leu)
c.5249C>T (p.Pro1750Leu)
 COSMIC COSMIC

Number of alleles fetched