Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
12g.51806703C>ACA480062276SCN8Ac.5217C>A (p.Pro1739=)
c.3281C>A
c.5094C>A (p.Pro1698=)
c.5250C>A (p.Pro1750=)
12g.51806703C>GCA480062279SCN8Ac.5217C>G (p.Pro1739=)
c.3281C>G
c.5094C>G (p.Pro1698=)
c.5250C>G (p.Pro1750=)
12g.51806703C>TCA480062278SCN8Ac.5217C>T (p.Pro1739=)
c.3281C>T
c.5094C>T (p.Pro1698=)
c.5250C>T (p.Pro1750=)
12g.51806704T>ACA384884589SCN8Ac.5218T>A (p.Ser1740Thr)
c.3282T>A
c.5095T>A (p.Ser1699Thr)
c.5251T>A (p.Ser1751Thr)
12g.51806704T>CCA384884592SCN8Ac.5218T>C (p.Ser1740Pro)
c.3282T>C
c.5095T>C (p.Ser1699Pro)
c.5251T>C (p.Ser1751Pro)
12g.51806704T>GCA384884596SCN8Ac.5218T>G (p.Ser1740Ala)
c.3282T>G
c.5095T>G (p.Ser1699Ala)
c.5251T>G (p.Ser1751Ala)
12g.51806705C>ACA384884602SCN8Ac.5219C>A (p.Ser1740Ter)
c.3283C>A
c.5096C>A (p.Ser1699Ter)
c.5252C>A (p.Ser1751Ter)
12g.51806705C>GCA384884604SCN8Ac.5219C>G (p.Ser1740Ter)
c.3283C>G
c.5096C>G (p.Ser1699Ter)
c.5252C>G (p.Ser1751Ter)
12g.51806705C>TCA384884606SCN8Ac.5219C>T (p.Ser1740Leu)
c.3283C>T
c.5096C>T (p.Ser1699Leu)
c.5252C>T (p.Ser1751Leu)
12g.51806706A=CA2036193548SCN8Ac.5220A= (p.Ser1740=)
c.3284A=
c.5097A= (p.Ser1699=)
c.5253A= (p.Ser1751=)
12g.51806706A>CCA480061818SCN8Ac.5220A>C (p.Ser1740=)
c.3284A>C
c.5097A>C (p.Ser1699=)
c.5253A>C (p.Ser1751=)
12g.51806706A>GCA6571900SCN8Ac.5220A>G (p.Ser1740=)
c.3284A>G
c.5097A>G (p.Ser1699=)
c.5253A>G (p.Ser1751=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806706A>TCA480061820SCN8Ac.5220A>T (p.Ser1740=)
c.3284A>T
c.5097A>T (p.Ser1699=)
c.5253A>T (p.Ser1751=)
12g.51806707G>ACA384884612SCN8Ac.5221G>A (p.Val1741Met)
c.3285G>A
c.5098G>A (p.Val1700Met)
c.5254G>A (p.Val1752Met)
12g.51806707G>CCA384884614SCN8Ac.5221G>C (p.Val1741Leu)
c.3285G>C
c.5098G>C (p.Val1700Leu)
c.5254G>C (p.Val1752Leu)
12g.51806707G>TCA384884616SCN8Ac.5221G>T (p.Val1741Leu)
c.3285G>T
c.5098G>T (p.Val1700Leu)
c.5254G>T (p.Val1752Leu)
12g.51806708T>ACA384884621SCN8Ac.5222T>A (p.Val1741Glu)
c.3286T>A
c.5099T>A (p.Val1700Glu)
c.5255T>A (p.Val1752Glu)
12g.51806708T>CCA384884624SCN8Ac.5222T>C (p.Val1741Ala)
c.3286T>C
c.5099T>C (p.Val1700Ala)
c.5255T>C (p.Val1752Ala)
12g.51806708T>GCA384884626SCN8Ac.5222T>G (p.Val1741Gly)
c.3286T>G
c.5099T>G (p.Val1700Gly)
c.5255T>G (p.Val1752Gly)
12g.51806709G>ACA480061822SCN8Ac.5223G>A (p.Val1741=)
c.3287G>A
c.5100G>A (p.Val1700=)
c.5256G>A (p.Val1752=)
12g.51806709G>CCA480061823SCN8Ac.5223G>C (p.Val1741=)
c.3287G>C
c.5100G>C (p.Val1700=)
c.5256G>C (p.Val1752=)
12g.51806709G>TCA480061824SCN8Ac.5223G>T (p.Val1741=)
c.3287G>T
c.5100G>T (p.Val1700=)
c.5256G>T (p.Val1752=)
12g.51806710G>ACA384884633SCN8Ac.5224G>A (p.Gly1742Ser)
c.3288G>A
c.5101G>A (p.Gly1701Ser)
c.5257G>A (p.Gly1753Ser)
12g.51806710G>CCA384884632SCN8Ac.5224G>C (p.Gly1742Arg)
c.3288G>C
c.5101G>C (p.Gly1701Arg)
c.5257G>C (p.Gly1753Arg)
 COSMIC COSMIC
12g.51806710G>TCA384884629SCN8Ac.5224G>T (p.Gly1742Cys)
c.3288G>T
c.5101G>T (p.Gly1701Cys)
c.5257G>T (p.Gly1753Cys)
12g.51806711G>ACA384884634SCN8Ac.5225G>A (p.Gly1742Asp)
c.3289G>A
c.5102G>A (p.Gly1701Asp)
c.5258G>A (p.Gly1753Asp)
12g.51806711G>CCA384884637SCN8Ac.5225G>C (p.Gly1742Ala)
c.3289G>C
c.5102G>C (p.Gly1701Ala)
c.5258G>C (p.Gly1753Ala)
 ClinVar dbSNP
12g.51806711G>TCA384884640SCN8Ac.5225G>T (p.Gly1742Val)
c.3289G>T
c.5102G>T (p.Gly1701Val)
c.5258G>T (p.Gly1753Val)
12g.51806712C>ACA480061830SCN8Ac.5226C>A (p.Gly1742=)
c.3290C>A
c.5103C>A (p.Gly1701=)
c.5259C>A (p.Gly1753=)
12g.51806712C>GCA480061827SCN8Ac.5226C>G (p.Gly1742=)
c.3290C>G
c.5103C>G (p.Gly1701=)
c.5259C>G (p.Gly1753=)
12g.51806712C>TCA480061829SCN8Ac.5226C>T (p.Gly1742=)
c.3290C>T
c.5103C>T (p.Gly1701=)
c.5259C>T (p.Gly1753=)
 gnomAD v4
12g.51806713A=CA2036193556SCN8Ac.5227A= (p.Ile1743=)
c.3291A=
c.5104A= (p.Ile1702=)
c.5260A= (p.Ile1754=)
12g.51806713A>CCA384884646SCN8Ac.5227A>C (p.Ile1743Leu)
c.3291A>C
c.5104A>C (p.Ile1702Leu)
c.5260A>C (p.Ile1754Leu)
12g.51806713A>GCA6571901SCN8Ac.5227A>G (p.Ile1743Val)
c.3291A>G
c.5104A>G (p.Ile1702Val)
c.5260A>G (p.Ile1754Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806713A>TCA384884648SCN8Ac.5227A>T (p.Ile1743Phe)
c.3291A>T
c.5104A>T (p.Ile1702Phe)
c.5260A>T (p.Ile1754Phe)
12g.51806713_51806716delinsATCTCA2036193560SCN8Ac.5227_5230delinsATCT (p.Ile1743=)
c.3291_3294delinsATCT
c.5104_5107delinsATCT (p.Ile1702=)
c.5260_5263delinsATCT (p.Ile1754=)
12g.51806714T>ACA384884651SCN8Ac.5228T>A (p.Ile1743Asn)
c.3292T>A
c.5105T>A (p.Ile1702Asn)
c.5261T>A (p.Ile1754Asn)
12g.51806714T>CCA384884662SCN8Ac.5228T>C (p.Ile1743Thr)
c.3292T>C
c.5105T>C (p.Ile1702Thr)
c.5261T>C (p.Ile1754Thr)
12g.51806714T>GCA384884665SCN8Ac.5228T>G (p.Ile1743Ser)
c.3292T>G
c.5105T>G (p.Ile1702Ser)
c.5261T>G (p.Ile1754Ser)
12g.51806721_51806723delCA605238641SCN8Ac.5235_5237del (p.Phe1746del)
c.3299_3301del
c.5112_5114del (p.Phe1705del)
c.5268_5270del (p.Phe1757del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51806715C>ACA6571902SCN8Ac.5229C>A (p.Ile1743=)
c.3293C>A
c.5106C>A (p.Ile1702=)
c.5262C>A (p.Ile1754=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806715C=CA2036193575SCN8Ac.5229C= (p.Ile1743=)
c.3293C=
c.5106C= (p.Ile1702=)
c.5262C= (p.Ile1754=)
12g.51806715C>GCA384884671SCN8Ac.5229C>G (p.Ile1743Met)
c.3293C>G
c.5106C>G (p.Ile1702Met)
c.5262C>G (p.Ile1754Met)
12g.51806715C>TCA480061834SCN8Ac.5229C>T (p.Ile1743=)
c.3293C>T
c.5106C>T (p.Ile1702=)
c.5262C>T (p.Ile1754=)
12g.51806716T>ACA384884674SCN8Ac.5230T>A (p.Phe1744Ile)
c.3294T>A
c.5107T>A (p.Phe1703Ile)
c.5263T>A (p.Phe1755Ile)
 dbSNP gnomAD v4
12g.51806716T>CCA384884676SCN8Ac.5230T>C (p.Phe1744Leu)
c.3294T>C
c.5107T>C (p.Phe1703Leu)
c.5263T>C (p.Phe1755Leu)
12g.51806716T>GCA384884689SCN8Ac.5230T>G (p.Phe1744Val)
c.3294T>G
c.5107T>G (p.Phe1703Val)
c.5263T>G (p.Phe1755Val)
12g.51806716T=CA2036193584SCN8Ac.5230T= (p.Phe1744=)
c.3294T=
c.5107T= (p.Phe1703=)
c.5263T= (p.Phe1755=)
12g.51806717T>ACA384884697SCN8Ac.5231T>A (p.Phe1744Tyr)
c.3295T>A
c.5108T>A (p.Phe1703Tyr)
c.5264T>A (p.Phe1755Tyr)
12g.51806717T>CCA384884694SCN8Ac.5231T>C (p.Phe1744Ser)
c.3295T>C
c.5108T>C (p.Phe1703Ser)
c.5264T>C (p.Phe1755Ser)
12g.51806717T>GCA384884692SCN8Ac.5231T>G (p.Phe1744Cys)
c.3295T>G
c.5108T>G (p.Phe1703Cys)
c.5264T>G (p.Phe1755Cys)
12g.51806718C>ACA384884702SCN8Ac.5232C>A (p.Phe1744Leu)
c.3296C>A
c.5109C>A (p.Phe1703Leu)
c.5265C>A (p.Phe1755Leu)
12g.51806718C=CA2036193587SCN8Ac.5232C= (p.Phe1744=)
c.3296C=
c.5109C= (p.Phe1703=)
c.5265C= (p.Phe1755=)
12g.51806718C>GCA384884701SCN8Ac.5232C>G (p.Phe1744Leu)
c.3296C>G
c.5109C>G (p.Phe1703Leu)
c.5265C>G (p.Phe1755Leu)
12g.51806718C>TCA480061839SCN8Ac.5232C>T (p.Phe1744=)
c.3296C>T
c.5109C>T (p.Phe1703=)
c.5265C>T (p.Phe1755=)
 ClinVar dbSNP
12g.51806719T>ACA384884707SCN8Ac.5233T>A (p.Phe1745Ile)
c.3297T>A
c.5110T>A (p.Phe1704Ile)
c.5266T>A (p.Phe1756Ile)
12g.51806719T>CCA384884712SCN8Ac.5233T>C (p.Phe1745Leu)
c.3297T>C
c.5110T>C (p.Phe1704Leu)
c.5266T>C (p.Phe1756Leu)
12g.51806719T>GCA384884715SCN8Ac.5233T>G (p.Phe1745Val)
c.3297T>G
c.5110T>G (p.Phe1704Val)
c.5266T>G (p.Phe1756Val)
12g.51806720T>ACA384884721SCN8Ac.5234T>A (p.Phe1745Tyr)
c.3298T>A
c.5111T>A (p.Phe1704Tyr)
c.5267T>A (p.Phe1756Tyr)
12g.51806720T>CCA384884725SCN8Ac.5234T>C (p.Phe1745Ser)
c.3298T>C
c.5111T>C (p.Phe1704Ser)
c.5267T>C (p.Phe1756Ser)
12g.51806720T>GCA384884727SCN8Ac.5234T>G (p.Phe1745Cys)
c.3298T>G
c.5111T>G (p.Phe1704Cys)
c.5267T>G (p.Phe1756Cys)
12g.51806721C>ACA384884742SCN8Ac.5235C>A (p.Phe1745Leu)
c.3299C>A
c.5112C>A (p.Phe1704Leu)
c.5268C>A (p.Phe1756Leu)
12g.51806721C>GCA384884748SCN8Ac.5235C>G (p.Phe1745Leu)
c.3299C>G
c.5112C>G (p.Phe1704Leu)
c.5268C>G (p.Phe1756Leu)
 gnomAD v4
12g.51806721C>TCA480061841SCN8Ac.5235C>T (p.Phe1745=)
c.3299C>T
c.5112C>T (p.Phe1704=)
c.5268C>T (p.Phe1756=)
12g.51806722T>ACA384884750SCN8Ac.5236T>A (p.Phe1746Ile)
c.3300T>A
c.5113T>A (p.Phe1705Ile)
c.5269T>A (p.Phe1757Ile)
12g.51806722T>CCA384884753SCN8Ac.5236T>C (p.Phe1746Leu)
c.3300T>C
c.5113T>C (p.Phe1705Leu)
c.5269T>C (p.Phe1757Leu)
12g.51806722T>GCA384884772SCN8Ac.5236T>G (p.Phe1746Val)
c.3300T>G
c.5113T>G (p.Phe1705Val)
c.5269T>G (p.Phe1757Val)
12g.51806723T>ACA384884779SCN8Ac.5237T>A (p.Phe1746Tyr)
c.3301T>A
c.5114T>A (p.Phe1705Tyr)
c.5270T>A (p.Phe1757Tyr)
12g.51806723T>CCA384884784SCN8Ac.5237T>C (p.Phe1746Ser)
c.3301T>C
c.5114T>C (p.Phe1705Ser)
c.5270T>C (p.Phe1757Ser)
12g.51806723T>GCA384884788SCN8Ac.5237T>G (p.Phe1746Cys)
c.3301T>G
c.5114T>G (p.Phe1705Cys)
c.5270T>G (p.Phe1757Cys)
12g.51806724T>ACA384884797SCN8Ac.5238T>A (p.Phe1746Leu)
c.3302T>A
c.5115T>A (p.Phe1705Leu)
c.5271T>A (p.Phe1757Leu)
12g.51806724T>CCA480061846SCN8Ac.5238T>C (p.Phe1746=)
c.3302T>C
c.5115T>C (p.Phe1705=)
c.5271T>C (p.Phe1757=)
12g.51806724T>GCA384884793SCN8Ac.5238T>G (p.Phe1746Leu)
c.3302T>G
c.5115T>G (p.Phe1705Leu)
c.5271T>G (p.Phe1757Leu)
12g.51806725G>ACA384884800SCN8Ac.5239G>A (p.Val1747Ile)
c.3303G>A
c.5116G>A (p.Val1706Ile)
c.5272G>A (p.Val1758Ile)
12g.51806725G>CCA384884804SCN8Ac.5239G>C (p.Val1747Leu)
c.3303G>C
c.5116G>C (p.Val1706Leu)
c.5272G>C (p.Val1758Leu)
12g.51806725G>TCA384884806SCN8Ac.5239G>T (p.Val1747Leu)
c.3303G>T
c.5116G>T (p.Val1706Leu)
c.5272G>T (p.Val1758Leu)
12g.51806726T>ACA384884814SCN8Ac.5240T>A (p.Val1747Glu)
c.3304T>A
c.5117T>A (p.Val1706Glu)
c.5273T>A (p.Val1758Glu)
12g.51806726T>CCA384884819SCN8Ac.5240T>C (p.Val1747Ala)
c.3304T>C
c.5117T>C (p.Val1706Ala)
c.5273T>C (p.Val1758Ala)
12g.51806726T>GCA384884821SCN8Ac.5240T>G (p.Val1747Gly)
c.3304T>G
c.5117T>G (p.Val1706Gly)
c.5273T>G (p.Val1758Gly)
12g.51806727A=CA2036193595SCN8Ac.5241A= (p.Val1747=)
c.3305A=
c.5118A= (p.Val1706=)
c.5274A= (p.Val1758=)
12g.51806727A>CCA480061850SCN8Ac.5241A>C (p.Val1747=)
c.3305A>C
c.5118A>C (p.Val1706=)
c.5274A>C (p.Val1758=)
12g.51806727A>GCA480061852SCN8Ac.5241A>G (p.Val1747=)
c.3305A>G
c.5118A>G (p.Val1706=)
c.5274A>G (p.Val1758=)
 dbSNP gnomAD v2
12g.51806727A>TCA480061853SCN8Ac.5241A>T (p.Val1747=)
c.3305A>T
c.5118A>T (p.Val1706=)
c.5274A>T (p.Val1758=)
12g.51806728A>CCA384884842SCN8Ac.5242A>C (p.Ser1748Arg)
c.3306A>C
c.5119A>C (p.Ser1707Arg)
c.5275A>C (p.Ser1759Arg)
12g.51806728A>GCA384884827SCN8Ac.5242A>G (p.Ser1748Gly)
c.3306A>G
c.5119A>G (p.Ser1707Gly)
c.5275A>G (p.Ser1759Gly)
12g.51806728A>TCA384884830SCN8Ac.5242A>T (p.Ser1748Cys)
c.3306A>T
c.5119A>T (p.Ser1707Cys)
c.5275A>T (p.Ser1759Cys)
12g.51806729G>ACA384884856SCN8Ac.5243G>A (p.Ser1748Asn)
c.3307G>A
c.5120G>A (p.Ser1707Asn)
c.5276G>A (p.Ser1759Asn)
12g.51806729G>CCA384884860SCN8Ac.5243G>C (p.Ser1748Thr)
c.3307G>C
c.5120G>C (p.Ser1707Thr)
c.5276G>C (p.Ser1759Thr)
12g.51806729G>TCA384884862SCN8Ac.5243G>T (p.Ser1748Ile)
c.3307G>T
c.5120G>T (p.Ser1707Ile)
c.5276G>T (p.Ser1759Ile)
12g.51806730C>ACA384884866SCN8Ac.5244C>A (p.Ser1748Arg)
c.3308C>A
c.5121C>A (p.Ser1707Arg)
c.5277C>A (p.Ser1759Arg)
12g.51806730C>GCA384884870SCN8Ac.5244C>G (p.Ser1748Arg)
c.3308C>G
c.5121C>G (p.Ser1707Arg)
c.5277C>G (p.Ser1759Arg)
12g.51806730C>TCA480061856SCN8Ac.5244C>T (p.Ser1748=)
c.3308C>T
c.5121C>T (p.Ser1707=)
c.5277C>T (p.Ser1759=)
12g.51806731T>ACA384884883SCN8Ac.5245T>A (p.Tyr1749Asn)
c.3309T>A
c.5122T>A (p.Tyr1708Asn)
c.5278T>A (p.Tyr1760Asn)
12g.51806731T>CCA384884877SCN8Ac.5245T>C (p.Tyr1749His)
c.3309T>C
c.5122T>C (p.Tyr1708His)
c.5278T>C (p.Tyr1760His)
12g.51806731T>GCA384884880SCN8Ac.5245T>G (p.Tyr1749Asp)
c.3309T>G
c.5122T>G (p.Tyr1708Asp)
c.5278T>G (p.Tyr1760Asp)
12g.51806732A>CCA384884890SCN8Ac.5246A>C (p.Tyr1749Ser)
c.3310A>C
c.5123A>C (p.Tyr1708Ser)
c.5279A>C (p.Tyr1760Ser)
12g.51806732A>GCA384884893SCN8Ac.5246A>G (p.Tyr1749Cys)
c.3310A>G
c.5123A>G (p.Tyr1708Cys)
c.5279A>G (p.Tyr1760Cys)
12g.51806732A>TCA384884897SCN8Ac.5246A>T (p.Tyr1749Phe)
c.3310A>T
c.5123A>T (p.Tyr1708Phe)
c.5279A>T (p.Tyr1760Phe)
12g.51806733C>ACA384884906SCN8Ac.5247C>A (p.Tyr1749Ter)
c.3311C>A
c.5124C>A (p.Tyr1708Ter)
c.5280C>A (p.Tyr1760Ter)
12g.51806733C>GCA384884910SCN8Ac.5247C>G (p.Tyr1749Ter)
c.3311C>G
c.5124C>G (p.Tyr1708Ter)
c.5280C>G (p.Tyr1760Ter)
12g.51806733C>TCA480061863SCN8Ac.5247C>T (p.Tyr1749=)
c.3311C>T
c.5124C>T (p.Tyr1708=)
c.5280C>T (p.Tyr1760=)
12g.51806734A=CA2036193600SCN8Ac.5248A= (p.Ile1750=)
c.3312A=
c.5125A= (p.Ile1709=)
c.5281A= (p.Ile1761=)
12g.51806734A>CCA384884915SCN8Ac.5248A>C (p.Ile1750Leu)
c.3312A>C
c.5125A>C (p.Ile1709Leu)
c.5281A>C (p.Ile1761Leu)
12g.51806734A>GCA384884918SCN8Ac.5248A>G (p.Ile1750Val)
c.3312A>G
c.5125A>G (p.Ile1709Val)
c.5281A>G (p.Ile1761Val)
 dbSNP gnomAD v4
12g.51806734A>TCA384884921SCN8Ac.5248A>T (p.Ile1750Phe)
c.3312A>T
c.5125A>T (p.Ile1709Phe)
c.5281A>T (p.Ile1761Phe)
12g.51806735T>ACA384884922SCN8Ac.5249T>A (p.Ile1750Asn)
c.3313T>A
c.5126T>A (p.Ile1709Asn)
c.5282T>A (p.Ile1761Asn)
12g.51806735T>CCA384884924SCN8Ac.5249T>C (p.Ile1750Thr)
c.3313T>C
c.5126T>C (p.Ile1709Thr)
c.5282T>C (p.Ile1761Thr)
12g.51806735T>GCA384884923SCN8Ac.5249T>G (p.Ile1750Ser)
c.3313T>G
c.5126T>G (p.Ile1709Ser)
c.5282T>G (p.Ile1761Ser)
12g.51806736C>ACA480061872SCN8Ac.5250C>A (p.Ile1750=)
c.3314C>A
c.5127C>A (p.Ile1709=)
c.5283C>A (p.Ile1761=)
12g.51806736C>GCA384884935SCN8Ac.5250C>G (p.Ile1750Met)
c.3314C>G
c.5127C>G (p.Ile1709Met)
c.5283C>G (p.Ile1761Met)
12g.51806736C>TCA480061874SCN8Ac.5250C>T (p.Ile1750=)
c.3314C>T
c.5127C>T (p.Ile1709=)
c.5283C>T (p.Ile1761=)
12g.51806737A>CCA384884940SCN8Ac.5251A>C (p.Ile1751Leu)
c.3315A>C
c.5128A>C (p.Ile1710Leu)
c.5284A>C (p.Ile1762Leu)
12g.51806737A>GCA384884943SCN8Ac.5251A>G (p.Ile1751Val)
c.3315A>G
c.5128A>G (p.Ile1710Val)
c.5284A>G (p.Ile1762Val)
 ClinVar
12g.51806737A>TCA384884946SCN8Ac.5251A>T (p.Ile1751Phe)
c.3315A>T
c.5128A>T (p.Ile1710Phe)
c.5284A>T (p.Ile1762Phe)
12g.51806738T>ACA384884949SCN8Ac.5252T>A (p.Ile1751Asn)
c.3316T>A
c.5129T>A (p.Ile1710Asn)
c.5285T>A (p.Ile1762Asn)
12g.51806738T>CCA384884953SCN8Ac.5252T>C (p.Ile1751Thr)
c.3316T>C
c.5129T>C (p.Ile1710Thr)
c.5285T>C (p.Ile1762Thr)
12g.51806738T>GCA384884951SCN8Ac.5252T>G (p.Ile1751Ser)
c.3316T>G
c.5129T>G (p.Ile1710Ser)
c.5285T>G (p.Ile1762Ser)
 COSMIC COSMIC
12g.51806739C>ACA480061880SCN8Ac.5253C>A (p.Ile1751=)
c.3317C>A
c.5130C>A (p.Ile1710=)
c.5286C>A (p.Ile1762=)
12g.51806739C>GCA384884956SCN8Ac.5253C>G (p.Ile1751Met)
c.3317C>G
c.5130C>G (p.Ile1710Met)
c.5286C>G (p.Ile1762Met)
12g.51806739C>TCA480061881SCN8Ac.5253C>T (p.Ile1751=)
c.3317C>T
c.5130C>T (p.Ile1710=)
c.5286C>T (p.Ile1762=)
12g.51806740A>CCA384884967SCN8Ac.5254A>C (p.Ile1752Leu)
c.3318A>C
c.5131A>C (p.Ile1711Leu)
c.5287A>C (p.Ile1763Leu)
12g.51806740A>GCA384884970SCN8Ac.5254A>G (p.Ile1752Val)
c.3318A>G
c.5131A>G (p.Ile1711Val)
c.5287A>G (p.Ile1763Val)
12g.51806740A>TCA384884972SCN8Ac.5254A>T (p.Ile1752Phe)
c.3318A>T
c.5131A>T (p.Ile1711Phe)
c.5287A>T (p.Ile1763Phe)
12g.51806741T>ACA384884975SCN8Ac.5255T>A (p.Ile1752Asn)
c.3319T>A
c.5132T>A (p.Ile1711Asn)
c.5288T>A (p.Ile1763Asn)
12g.51806741T>CCA384884978SCN8Ac.5255T>C (p.Ile1752Thr)
c.3319T>C
c.5132T>C (p.Ile1711Thr)
c.5288T>C (p.Ile1763Thr)
12g.51806741T>GCA384884981SCN8Ac.5255T>G (p.Ile1752Ser)
c.3319T>G
c.5132T>G (p.Ile1711Ser)
c.5288T>G (p.Ile1763Ser)
12g.51806742C>ACA480061889SCN8Ac.5256C>A (p.Ile1752=)
c.3320C>A
c.5133C>A (p.Ile1711=)
c.5289C>A (p.Ile1763=)
12g.51806742C>GCA384884987SCN8Ac.5256C>G (p.Ile1752Met)
c.3320C>G
c.5133C>G (p.Ile1711Met)
c.5289C>G (p.Ile1763Met)
 ClinVar
12g.51806742C>TCA480061888SCN8Ac.5256C>T (p.Ile1752=)
c.3320C>T
c.5133C>T (p.Ile1711=)
c.5289C>T (p.Ile1763=)
12g.51806743T>ACA384884994SCN8Ac.5257T>A (p.Ser1753Thr)
c.3321T>A
c.5134T>A (p.Ser1712Thr)
c.5290T>A (p.Ser1764Thr)
12g.51806743T>CCA384885002SCN8Ac.5257T>C (p.Ser1753Pro)
c.3321T>C
c.5134T>C (p.Ser1712Pro)
c.5290T>C (p.Ser1764Pro)
12g.51806743T>GCA384885004SCN8Ac.5257T>G (p.Ser1753Ala)
c.3321T>G
c.5134T>G (p.Ser1712Ala)
c.5290T>G (p.Ser1764Ala)
12g.51806744C>ACA384885013SCN8Ac.5258C>A (p.Ser1753Tyr)
c.3322C>A
c.5135C>A (p.Ser1712Tyr)
c.5291C>A (p.Ser1764Tyr)
12g.51806744C>GCA384885020SCN8Ac.5258C>G (p.Ser1753Cys)
c.3322C>G
c.5135C>G (p.Ser1712Cys)
c.5291C>G (p.Ser1764Cys)
12g.51806744C>TCA384885017SCN8Ac.5258C>T (p.Ser1753Phe)
c.3322C>T
c.5135C>T (p.Ser1712Phe)
c.5291C>T (p.Ser1764Phe)
12g.51806745T>ACA480061893SCN8Ac.5259T>A (p.Ser1753=)
c.3323T>A
c.5136T>A (p.Ser1712=)
c.5292T>A (p.Ser1764=)
12g.51806745T>CCA6571903SCN8Ac.5259T>C (p.Ser1753=)
c.3323T>C
c.5136T>C (p.Ser1712=)
c.5292T>C (p.Ser1764=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806745T>GCA480061894SCN8Ac.5259T>G (p.Ser1753=)
c.3323T>G
c.5136T>G (p.Ser1712=)
c.5292T>G (p.Ser1764=)
12g.51806745T=CA2036193609SCN8Ac.5259T= (p.Ser1753=)
c.3323T=
c.5136T= (p.Ser1712=)
c.5292T= (p.Ser1764=)
12g.51806746T>ACA384885035SCN8Ac.5260T>A (p.Phe1754Ile)
c.3324T>A
c.5137T>A (p.Phe1713Ile)
c.5293T>A (p.Phe1765Ile)
12g.51806746T>CCA384885029SCN8Ac.5260T>C (p.Phe1754Leu)
c.3324T>C
c.5137T>C (p.Phe1713Leu)
c.5293T>C (p.Phe1765Leu)
12g.51806746T>GCA384885032SCN8Ac.5260T>G (p.Phe1754Val)
c.3324T>G
c.5137T>G (p.Phe1713Val)
c.5293T>G (p.Phe1765Val)
12g.51806747T>ACA384885037SCN8Ac.5261T>A (p.Phe1754Tyr)
c.3325T>A
c.5138T>A (p.Phe1713Tyr)
c.5294T>A (p.Phe1765Tyr)
12g.51806747T>CCA384885040SCN8Ac.5261T>C (p.Phe1754Ser)
c.3325T>C
c.5138T>C (p.Phe1713Ser)
c.5294T>C (p.Phe1765Ser)
12g.51806747T>GCA384885042SCN8Ac.5261T>G (p.Phe1754Cys)
c.3325T>G
c.5138T>G (p.Phe1713Cys)
c.5294T>G (p.Phe1765Cys)
12g.51806748C>ACA384885045SCN8Ac.5262C>A (p.Phe1754Leu)
c.3326C>A
c.5139C>A (p.Phe1713Leu)
c.5295C>A (p.Phe1765Leu)
12g.51806748C>GCA384885046SCN8Ac.5262C>G (p.Phe1754Leu)
c.3326C>G
c.5139C>G (p.Phe1713Leu)
c.5295C>G (p.Phe1765Leu)
12g.51806748C>TCA480061904SCN8Ac.5262C>T (p.Phe1754=)
c.3326C>T
c.5139C>T (p.Phe1713=)
c.5295C>T (p.Phe1765=)
12g.51806749C>ACA384885047SCN8Ac.5263C>A (p.Leu1755Ile)
c.3327C>A
c.5140C>A (p.Leu1714Ile)
c.5296C>A (p.Leu1766Ile)
12g.51806749C>GCA384885050SCN8Ac.5263C>G (p.Leu1755Val)
c.3327C>G
c.5140C>G (p.Leu1714Val)
c.5296C>G (p.Leu1766Val)
12g.51806749C>TCA480061905SCN8Ac.5263C>T (p.Leu1755=)
c.3327C>T
c.5140C>T (p.Leu1714=)
c.5296C>T (p.Leu1766=)
12g.51806750T>ACA384885054SCN8Ac.5264T>A (p.Leu1755Gln)
c.3328T>A
c.5141T>A (p.Leu1714Gln)
c.5297T>A (p.Leu1766Gln)
12g.51806750T>CCA384885057SCN8Ac.5264T>C (p.Leu1755Pro)
c.3328T>C
c.5141T>C (p.Leu1714Pro)
c.5297T>C (p.Leu1766Pro)
12g.51806750T>GCA384885061SCN8Ac.5264T>G (p.Leu1755Arg)
c.3328T>G
c.5141T>G (p.Leu1714Arg)
c.5297T>G (p.Leu1766Arg)
12g.51806751A=CA2036193621SCN8Ac.5265A= (p.Leu1755=)
c.3329A=
c.5142A= (p.Leu1714=)
c.5298A= (p.Leu1766=)
12g.51806751A>CCA480061907SCN8Ac.5265A>C (p.Leu1755=)
c.3329A>C
c.5142A>C (p.Leu1714=)
c.5298A>C (p.Leu1766=)
12g.51806751A>GCA480061908SCN8Ac.5265A>G (p.Leu1755=)
c.3329A>G
c.5142A>G (p.Leu1714=)
c.5298A>G (p.Leu1766=)
 ClinVar dbSNP gnomAD v4
12g.51806751A>TCA480061909SCN8Ac.5265A>T (p.Leu1755=)
c.3329A>T
c.5142A>T (p.Leu1714=)
c.5298A>T (p.Leu1766=)
12g.51806752A=CA2036193628SCN8Ac.5266A= (p.Ile1756=)
c.3330A=
c.5143A= (p.Ile1715=)
c.5299A= (p.Ile1767=)
12g.51806752A>CCA384885070SCN8Ac.5266A>C (p.Ile1756Leu)
c.3330A>C
c.5143A>C (p.Ile1715Leu)
c.5299A>C (p.Ile1767Leu)
12g.51806752A>GCA384885066SCN8Ac.5266A>G (p.Ile1756Val)
c.3330A>G
c.5143A>G (p.Ile1715Val)
c.5299A>G (p.Ile1767Val)
 ClinVar dbSNP
12g.51806752A>TCA384885068SCN8Ac.5266A>T (p.Ile1756Phe)
c.3330A>T
c.5143A>T (p.Ile1715Phe)
c.5299A>T (p.Ile1767Phe)
12g.51806753T>ACA384885076SCN8Ac.5267T>A (p.Ile1756Asn)
c.3331T>A
c.5144T>A (p.Ile1715Asn)
c.5300T>A (p.Ile1767Asn)
12g.51806753T>CCA384885080SCN8Ac.5267T>C (p.Ile1756Thr)
c.3331T>C
c.5144T>C (p.Ile1715Thr)
c.5300T>C (p.Ile1767Thr)
12g.51806753T>GCA384885081SCN8Ac.5267T>G (p.Ile1756Ser)
c.3331T>G
c.5144T>G (p.Ile1715Ser)
c.5300T>G (p.Ile1767Ser)
 ClinVar
12g.51806754T>ACA480061916SCN8Ac.5268T>A (p.Ile1756=)
c.3332T>A
c.5145T>A (p.Ile1715=)
c.5301T>A (p.Ile1767=)
12g.51806754T>CCA480061917SCN8Ac.5268T>C (p.Ile1756=)
c.3332T>C
c.5145T>C (p.Ile1715=)
c.5301T>C (p.Ile1767=)
12g.51806754T>GCA384885084SCN8Ac.5268T>G (p.Ile1756Met)
c.3332T>G
c.5145T>G (p.Ile1715Met)
c.5301T>G (p.Ile1767Met)
12g.51806755G>ACA384885087SCN8Ac.5269G>A (p.Val1757Ile)
c.3333G>A
c.5146G>A (p.Val1716Ile)
c.5302G>A (p.Val1768Ile)
 ClinVar dbSNP
12g.51806755G>CCA384885090SCN8Ac.5269G>C (p.Val1757Leu)
c.3333G>C
c.5146G>C (p.Val1716Leu)
c.5302G>C (p.Val1768Leu)
12g.51806755G=CA2036193639SCN8Ac.5269G= (p.Val1757=)
c.3333G=
c.5146G= (p.Val1716=)
c.5302G= (p.Val1768=)
12g.51806755G>TCA384885093SCN8Ac.5269G>T (p.Val1757Phe)
c.3333G>T
c.5146G>T (p.Val1716Phe)
c.5302G>T (p.Val1768Phe)
12g.51806756T>ACA384885096SCN8Ac.5270T>A (p.Val1757Asp)
c.3334T>A
c.5147T>A (p.Val1716Asp)
c.5303T>A (p.Val1768Asp)
 ClinVar dbSNP
12g.51806756T>CCA384885110SCN8Ac.5270T>C (p.Val1757Ala)
c.3334T>C
c.5147T>C (p.Val1716Ala)
c.5303T>C (p.Val1768Ala)
12g.51806756T>GCA384885112SCN8Ac.5270T>G (p.Val1757Gly)
c.3334T>G
c.5147T>G (p.Val1716Gly)
c.5303T>G (p.Val1768Gly)
12g.51806756T=CA2036193656SCN8Ac.5270T= (p.Val1757=)
c.3334T=
c.5147T= (p.Val1716=)
c.5303T= (p.Val1768=)
12g.51806757C>ACA480061922SCN8Ac.5271C>A (p.Val1757=)
c.3335C>A
c.5148C>A (p.Val1716=)
c.5304C>A (p.Val1768=)
12g.51806757C=CA2036193665SCN8Ac.5271C= (p.Val1757=)
c.3335C=
c.5148C= (p.Val1716=)
c.5304C= (p.Val1768=)
12g.51806757C>GCA480061923SCN8Ac.5271C>G (p.Val1757=)
c.3335C>G
c.5148C>G (p.Val1716=)
c.5304C>G (p.Val1768=)
12g.51806757C>TCA6571904SCN8Ac.5271C>T (p.Val1757=)
c.3335C>T
c.5148C>T (p.Val1716=)
c.5304C>T (p.Val1768=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51806758G>ACA384885121SCN8Ac.5272G>A (p.Val1758Met)
c.3336G>A
c.5149G>A (p.Val1717Met)
c.5305G>A (p.Val1769Met)
 ClinVar dbSNP gnomAD v4
12g.51806758G>CCA384885124SCN8Ac.5272G>C (p.Val1758Leu)
c.3336G>C
c.5149G>C (p.Val1717Leu)
c.5305G>C (p.Val1769Leu)
12g.51806758G=CA2036193674SCN8Ac.5272G= (p.Val1758=)
c.3336G=
c.5149G= (p.Val1717=)
c.5305G= (p.Val1769=)
12g.51806758G>TCA384885116SCN8Ac.5272G>T (p.Val1758Leu)
c.3336G>T
c.5149G>T (p.Val1717Leu)
c.5305G>T (p.Val1769Leu)
12g.51806759T>ACA384885131SCN8Ac.5273T>A (p.Val1758Glu)
c.3337T>A
c.5150T>A (p.Val1717Glu)
c.5306T>A (p.Val1769Glu)
12g.51806759T>CCA384885133SCN8Ac.5273T>C (p.Val1758Ala)
c.3337T>C
c.5150T>C (p.Val1717Ala)
c.5306T>C (p.Val1769Ala)
 ClinVar
12g.51806759T>GCA384885134SCN8Ac.5273T>G (p.Val1758Gly)
c.3337T>G
c.5150T>G (p.Val1717Gly)
c.5306T>G (p.Val1769Gly)
12g.51806760G>ACA480061929SCN8Ac.5274G>A (p.Val1758=)
c.3338G>A
c.5151G>A (p.Val1717=)
c.5307G>A (p.Val1769=)
12g.51806760G>CCA480061931SCN8Ac.5274G>C (p.Val1758=)
c.3338G>C
c.5151G>C (p.Val1717=)
c.5307G>C (p.Val1769=)
12g.51806760G>TCA480061930SCN8Ac.5274G>T (p.Val1758=)
c.3338G>T
c.5151G>T (p.Val1717=)
c.5307G>T (p.Val1769=)
12g.51806761A>CCA384885136SCN8Ac.5275A>C (p.Asn1759His)
c.3339A>C
c.5152A>C (p.Asn1718His)
c.5308A>C (p.Asn1770His)
12g.51806761A>GCA384885137SCN8Ac.5275A>G (p.Asn1759Asp)
c.3339A>G
c.5152A>G (p.Asn1718Asp)
c.5308A>G (p.Asn1770Asp)
12g.51806761A>TCA384885138SCN8Ac.5275A>T (p.Asn1759Tyr)
c.3339A>T
c.5152A>T (p.Asn1718Tyr)
c.5308A>T (p.Asn1770Tyr)
12g.51806762A=CA2036193679SCN8Ac.5276A= (p.Asn1759=)
c.3340A=
c.5153A= (p.Asn1718=)
c.5309A= (p.Asn1770=)
12g.51806762A>CCA384885145SCN8Ac.5276A>C (p.Asn1759Thr)
c.3340A>C
c.5153A>C (p.Asn1718Thr)
c.5309A>C (p.Asn1770Thr)
12g.51806762A>GCA354191SCN8Ac.5276A>G (p.Asn1759Ser)
c.3340A>G
c.5153A>G (p.Asn1718Ser)
c.5309A>G (p.Asn1770Ser)
 ClinVar dbSNP
12g.51806762A>TCA384885143SCN8Ac.5276A>T (p.Asn1759Ile)
c.3340A>T
c.5153A>T (p.Asn1718Ile)
c.5309A>T (p.Asn1770Ile)
12g.51806763C>ACA384885150SCN8Ac.5277C>A (p.Asn1759Lys)
c.3341C>A
c.5154C>A (p.Asn1718Lys)
c.5310C>A (p.Asn1770Lys)
12g.51806763C>GCA384885151SCN8Ac.5277C>G (p.Asn1759Lys)
c.3341C>G
c.5154C>G (p.Asn1718Lys)
c.5310C>G (p.Asn1770Lys)
12g.51806763C>TCA480061934SCN8Ac.5277C>T (p.Asn1759=)
c.3341C>T
c.5154C>T (p.Asn1718=)
c.5310C>T (p.Asn1770=)
12g.51806764A=CA2036193689SCN8Ac.5278A= (p.Met1760=)
c.3342A=
c.5155A= (p.Met1719=)
c.5311A= (p.Met1771=)
12g.51806764A>CCA384885152SCN8Ac.5278A>C (p.Met1760Leu)
c.3342A>C
c.5155A>C (p.Met1719Leu)
c.5311A>C (p.Met1771Leu)
12g.51806764A>GCA384885154SCN8Ac.5278A>G (p.Met1760Val)
c.3342A>G
c.5155A>G (p.Met1719Val)
c.5311A>G (p.Met1771Val)
 ClinVar dbSNP
12g.51806764A>TCA384885156SCN8Ac.5278A>T (p.Met1760Leu)
c.3342A>T
c.5155A>T (p.Met1719Leu)
c.5311A>T (p.Met1771Leu)
12g.51806765T>ACA384885157SCN8Ac.5279T>A (p.Met1760Lys)
c.3343T>A
c.5156T>A (p.Met1719Lys)
c.5312T>A (p.Met1771Lys)
12g.51806765T>CCA384885161SCN8Ac.5279T>C (p.Met1760Thr)
c.3343T>C
c.5156T>C (p.Met1719Thr)
c.5312T>C (p.Met1771Thr)
 ClinVar dbSNP
12g.51806765T>GCA384885158SCN8Ac.5279T>G (p.Met1760Arg)
c.3343T>G
c.5156T>G (p.Met1719Arg)
c.5312T>G (p.Met1771Arg)
12g.51806765T=CA2036193699SCN8Ac.5279T= (p.Met1760=)
c.3343T=
c.5156T= (p.Met1719=)
c.5312T= (p.Met1771=)
12g.51806766G>ACA384885163SCN8Ac.5280G>A (p.Met1760Ile)
c.3344G>A
c.5157G>A (p.Met1719Ile)
c.5313G>A (p.Met1771Ile)
 ClinVar dbSNP
12g.51806766G>CCA384885164SCN8Ac.5280G>C (p.Met1760Ile)
c.3344G>C
c.5157G>C (p.Met1719Ile)
c.5313G>C (p.Met1771Ile)
 ClinVar COSMIC COSMIC
12g.51806766G=CA2036193711SCN8Ac.5280G= (p.Met1760=)
c.3344G=
c.5157G= (p.Met1719=)
c.5313G= (p.Met1771=)
12g.51806766G>TCA384885165SCN8Ac.5280G>T (p.Met1760Ile)
c.3344G>T
c.5157G>T (p.Met1719Ile)
c.5313G>T (p.Met1771Ile)
12g.51806767T>ACA384885168SCN8Ac.5281T>A (p.Tyr1761Asn)
c.3345T>A
c.5158T>A (p.Tyr1720Asn)
c.5314T>A (p.Tyr1772Asn)
12g.51806767T>CCA384885170SCN8Ac.5281T>C (p.Tyr1761His)
c.3345T>C
c.5158T>C (p.Tyr1720His)
c.5314T>C (p.Tyr1772His)
12g.51806767T>GCA384885171SCN8Ac.5281T>G (p.Tyr1761Asp)
c.3345T>G
c.5158T>G (p.Tyr1720Asp)
c.5314T>G (p.Tyr1772Asp)
12g.51806768A>CCA384885172SCN8Ac.5282A>C (p.Tyr1761Ser)
c.3346A>C
c.5159A>C (p.Tyr1720Ser)
c.5315A>C (p.Tyr1772Ser)
12g.51806768A>GCA384885173SCN8Ac.5282A>G (p.Tyr1761Cys)
c.3346A>G
c.5159A>G (p.Tyr1720Cys)
c.5315A>G (p.Tyr1772Cys)
 gnomAD v4
12g.51806768A>TCA384885174SCN8Ac.5282A>T (p.Tyr1761Phe)
c.3346A>T
c.5159A>T (p.Tyr1720Phe)
c.5315A>T (p.Tyr1772Phe)
12g.51806769C>ACA384885177SCN8Ac.5283C>A (p.Tyr1761Ter)
c.3347C>A
c.5160C>A (p.Tyr1720Ter)
c.5316C>A (p.Tyr1772Ter)
12g.51806769C=CA2036193718SCN8Ac.5283C= (p.Tyr1761=)
c.3347C=
c.5160C= (p.Tyr1720=)
c.5316C= (p.Tyr1772=)
12g.51806769C>GCA384885179SCN8Ac.5283C>G (p.Tyr1761Ter)
c.3347C>G
c.5160C>G (p.Tyr1720Ter)
c.5316C>G (p.Tyr1772Ter)
12g.51806769C>TCA6571905SCN8Ac.5283C>T (p.Tyr1761=)
c.3347C>T
c.5160C>T (p.Tyr1720=)
c.5316C>T (p.Tyr1772=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806770A>CCA384885184SCN8Ac.5284A>C (p.Ile1762Leu)
c.3348A>C
c.5161A>C (p.Ile1721Leu)
c.5317A>C (p.Ile1773Leu)
 ClinVar
12g.51806770A>GCA384885188SCN8Ac.5284A>G (p.Ile1762Val)
c.3348A>G
c.5161A>G (p.Ile1721Val)
c.5317A>G (p.Ile1773Val)
 ClinVar
12g.51806770A>TCA384885186SCN8Ac.5284A>T (p.Ile1762Phe)
c.3348A>T
c.5161A>T (p.Ile1721Phe)
c.5317A>T (p.Ile1773Phe)
 ClinVar dbSNP
12g.51806771T>ACA384885191SCN8Ac.5285T>A (p.Ile1762Asn)
c.3349T>A
c.5162T>A (p.Ile1721Asn)
c.5318T>A (p.Ile1773Asn)
12g.51806771T>CCA384885193SCN8Ac.5285T>C (p.Ile1762Thr)
c.3349T>C
c.5162T>C (p.Ile1721Thr)
c.5318T>C (p.Ile1773Thr)
12g.51806771T>GCA384885192SCN8Ac.5285T>G (p.Ile1762Ser)
c.3349T>G
c.5162T>G (p.Ile1721Ser)
c.5318T>G (p.Ile1773Ser)
12g.51806772T>ACA480061948SCN8Ac.5286T>A (p.Ile1762=)
c.3350T>A
c.5163T>A (p.Ile1721=)
c.5319T>A (p.Ile1773=)
12g.51806772T>CCA480061950SCN8Ac.5286T>C (p.Ile1762=)
c.3350T>C
c.5163T>C (p.Ile1721=)
c.5319T>C (p.Ile1773=)
12g.51806772T>GCA384885194SCN8Ac.5286T>G (p.Ile1762Met)
c.3350T>G
c.5163T>G (p.Ile1721Met)
c.5319T>G (p.Ile1773Met)
12g.51806773G>ACA384885195SCN8Ac.5287G>A (p.Ala1763Thr)
c.3351G>A
c.5164G>A (p.Ala1722Thr)
c.5320G>A (p.Ala1774Thr)
12g.51806773G>CCA384885196SCN8Ac.5287G>C (p.Ala1763Pro)
c.3351G>C
c.5164G>C (p.Ala1722Pro)
c.5320G>C (p.Ala1774Pro)
12g.51806773G>TCA384885197SCN8Ac.5287G>T (p.Ala1763Ser)
c.3351G>T
c.5164G>T (p.Ala1722Ser)
c.5320G>T (p.Ala1774Ser)
12g.51806774C>ACA384885198SCN8Ac.5288C>A (p.Ala1763Asp)
c.3352C>A
c.5165C>A (p.Ala1722Asp)
c.5321C>A (p.Ala1774Asp)
12g.51806774C>GCA384885199SCN8Ac.5288C>G (p.Ala1763Gly)
c.3352C>G
c.5165C>G (p.Ala1722Gly)
c.5321C>G (p.Ala1774Gly)
12g.51806774C>TCA384885200SCN8Ac.5288C>T (p.Ala1763Val)
c.3352C>T
c.5165C>T (p.Ala1722Val)
c.5321C>T (p.Ala1774Val)
12g.51806775C>ACA480061956SCN8Ac.5289C>A (p.Ala1763=)
c.3353C>A
c.5166C>A (p.Ala1722=)
c.5322C>A (p.Ala1774=)
12g.51806775C>GCA480061954SCN8Ac.5289C>G (p.Ala1763=)
c.3353C>G
c.5166C>G (p.Ala1722=)
c.5322C>G (p.Ala1774=)
12g.51806775C>TCA480061955SCN8Ac.5289C>T (p.Ala1763=)
c.3353C>T
c.5166C>T (p.Ala1722=)
c.5322C>T (p.Ala1774=)
 gnomAD v4
12g.51806776A>CCA384885201SCN8Ac.5290A>C (p.Ile1764Leu)
c.3354A>C
c.5167A>C (p.Ile1723Leu)
c.5323A>C (p.Ile1775Leu)
12g.51806776A>GCA384885203SCN8Ac.5290A>G (p.Ile1764Val)
c.3354A>G
c.5167A>G (p.Ile1723Val)
c.5323A>G (p.Ile1775Val)
12g.51806776A>TCA384885202SCN8Ac.5290A>T (p.Ile1764Phe)
c.3354A>T
c.5167A>T (p.Ile1723Phe)
c.5323A>T (p.Ile1775Phe)
 COSMIC COSMIC
12g.51806777T>ACA384885204SCN8Ac.5291T>A (p.Ile1764Asn)
c.3355T>A
c.5168T>A (p.Ile1723Asn)
c.5324T>A (p.Ile1775Asn)
12g.51806777T>CCA236327543SCN8Ac.5291T>C (p.Ile1764Thr)
c.3355T>C
c.5168T>C (p.Ile1723Thr)
c.5324T>C (p.Ile1775Thr)
 ClinVar dbSNP
12g.51806777T>GCA384885205SCN8Ac.5291T>G (p.Ile1764Ser)
c.3355T>G
c.5168T>G (p.Ile1723Ser)
c.5324T>G (p.Ile1775Ser)
12g.51806777T=CA2036193722SCN8Ac.5291T= (p.Ile1764=)
c.3355T=
c.5168T= (p.Ile1723=)
c.5324T= (p.Ile1775=)
12g.51806778C>ACA480061962SCN8Ac.5292C>A (p.Ile1764=)
c.3356C>A
c.5169C>A (p.Ile1723=)
c.5325C>A (p.Ile1775=)
12g.51806778C>GCA384885206SCN8Ac.5292C>G (p.Ile1764Met)
c.3356C>G
c.5169C>G (p.Ile1723Met)
c.5325C>G (p.Ile1775Met)
12g.51806778C>TCA480061964SCN8Ac.5292C>T (p.Ile1764=)
c.3356C>T
c.5169C>T (p.Ile1723=)
c.5325C>T (p.Ile1775=)
12g.51806779A>CCA384885207SCN8Ac.5293A>C (p.Ile1765Leu)
c.3357A>C
c.5170A>C (p.Ile1724Leu)
c.5326A>C (p.Ile1776Leu)
12g.51806779A>GCA384885209SCN8Ac.5293A>G (p.Ile1765Val)
c.3357A>G
c.5170A>G (p.Ile1724Val)
c.5326A>G (p.Ile1776Val)
12g.51806779A>TCA384885208SCN8Ac.5293A>T (p.Ile1765Phe)
c.3357A>T
c.5170A>T (p.Ile1724Phe)
c.5326A>T (p.Ile1776Phe)
12g.51806780T>ACA384885210SCN8Ac.5294T>A (p.Ile1765Asn)
c.3358T>A
c.5171T>A (p.Ile1724Asn)
c.5327T>A (p.Ile1776Asn)
12g.51806780T>CCA384885211SCN8Ac.5294T>C (p.Ile1765Thr)
c.3358T>C
c.5171T>C (p.Ile1724Thr)
c.5327T>C (p.Ile1776Thr)
12g.51806780T>GCA384885212SCN8Ac.5294T>G (p.Ile1765Ser)
c.3358T>G
c.5171T>G (p.Ile1724Ser)
c.5327T>G (p.Ile1776Ser)
12g.51806781C>ACA480061967SCN8Ac.5295C>A (p.Ile1765=)
c.3359C>A
c.5172C>A (p.Ile1724=)
c.5328C>A (p.Ile1776=)
12g.51806781C=CA2036193736SCN8Ac.5295C= (p.Ile1765=)
c.3359C=
c.5172C= (p.Ile1724=)
c.5328C= (p.Ile1776=)
12g.51806781C>GCA384885213SCN8Ac.5295C>G (p.Ile1765Met)
c.3359C>G
c.5172C>G (p.Ile1724Met)
c.5328C>G (p.Ile1776Met)
12g.51806781C>TCA6571906SCN8Ac.5295C>T (p.Ile1765=)
c.3359C>T
c.5172C>T (p.Ile1724=)
c.5328C>T (p.Ile1776=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806782C>ACA384885214SCN8Ac.5296C>A (p.Leu1766Met)
c.3360C>A
c.5173C>A (p.Leu1725Met)
c.5329C>A (p.Leu1777Met)
12g.51806782C>GCA384885215SCN8Ac.5296C>G (p.Leu1766Val)
c.3360C>G
c.5173C>G (p.Leu1725Val)
c.5329C>G (p.Leu1777Val)
12g.51806782C>TCA480061972SCN8Ac.5296C>T (p.Leu1766=)
c.3360C>T
c.5173C>T (p.Leu1725=)
c.5329C>T (p.Leu1777=)
12g.51806783T>ACA384885216SCN8Ac.5297T>A (p.Leu1766Gln)
c.3361T>A
c.5174T>A (p.Leu1725Gln)
c.5330T>A (p.Leu1777Gln)
12g.51806783T>CCA384885217SCN8Ac.5297T>C (p.Leu1766Pro)
c.3361T>C
c.5174T>C (p.Leu1725Pro)
c.5330T>C (p.Leu1777Pro)
12g.51806783T>GCA384885218SCN8Ac.5297T>G (p.Leu1766Arg)
c.3361T>G
c.5174T>G (p.Leu1725Arg)
c.5330T>G (p.Leu1777Arg)
 ClinVar dbSNP
12g.51806783T=CA2036193739SCN8Ac.5297T= (p.Leu1766=)
c.3361T=
c.5174T= (p.Leu1725=)
c.5330T= (p.Leu1777=)
12g.51806784G>ACA6571907SCN8Ac.5298G>A (p.Leu1766=)
c.3362G>A
c.5175G>A (p.Leu1725=)
c.5331G>A (p.Leu1777=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806784G>CCA480061975SCN8Ac.5298G>C (p.Leu1766=)
c.3362G>C
c.5175G>C (p.Leu1725=)
c.5331G>C (p.Leu1777=)
12g.51806784G=CA2036193741SCN8Ac.5298G= (p.Leu1766=)
c.3362G=
c.5175G= (p.Leu1725=)
c.5331G= (p.Leu1777=)
12g.51806784G>TCA480061976SCN8Ac.5298G>T (p.Leu1766=)
c.3362G>T
c.5175G>T (p.Leu1725=)
c.5331G>T (p.Leu1777=)
12g.51806785G>ACA384885219SCN8Ac.5299G>A (p.Glu1767Lys)
c.3363G>A
c.5176G>A (p.Glu1726Lys)
c.5332G>A (p.Glu1778Lys)
12g.51806785G>CCA384885221SCN8Ac.5299G>C (p.Glu1767Gln)
c.3363G>C
c.5176G>C (p.Glu1726Gln)
c.5332G>C (p.Glu1778Gln)
12g.51806785G=CA2036193746SCN8Ac.5299G= (p.Glu1767=)
c.3363G=
c.5176G= (p.Glu1726=)
c.5332G= (p.Glu1778=)
12g.51806785G>TCA384885220SCN8Ac.5299G>T (p.Glu1767Ter)
c.3363G>T
c.5176G>T (p.Glu1726Ter)
c.5332G>T (p.Glu1778Ter)
 dbSNP
12g.51806786A>CCA384885222SCN8Ac.5300A>C (p.Glu1767Ala)
c.3364A>C
c.5177A>C (p.Glu1726Ala)
c.5333A>C (p.Glu1778Ala)
12g.51806786A>GCA384885223SCN8Ac.5300A>G (p.Glu1767Gly)
c.3364A>G
c.5177A>G (p.Glu1726Gly)
c.5333A>G (p.Glu1778Gly)
12g.51806786A>TCA384885224SCN8Ac.5300A>T (p.Glu1767Val)
c.3364A>T
c.5177A>T (p.Glu1726Val)
c.5333A>T (p.Glu1778Val)
12g.51806787G>ACA480061979SCN8Ac.5301G>A (p.Glu1767=)
c.3365G>A
c.5178G>A (p.Glu1726=)
c.5334G>A (p.Glu1778=)
12g.51806787G>CCA384885225SCN8Ac.5301G>C (p.Glu1767Asp)
c.3365G>C
c.5178G>C (p.Glu1726Asp)
c.5334G>C (p.Glu1778Asp)
12g.51806787G>TCA384885226SCN8Ac.5301G>T (p.Glu1767Asp)
c.3365G>T
c.5178G>T (p.Glu1726Asp)
c.5334G>T (p.Glu1778Asp)
12g.51806788A=CA2036193753SCN8Ac.5302A= (p.Asn1768=)
c.3366A=
c.5179A= (p.Asn1727=)
c.5335A= (p.Asn1779=)
12g.51806788A>CCA384885227SCN8Ac.5302A>C (p.Asn1768His)
c.3366A>C
c.5179A>C (p.Asn1727His)
c.5335A>C (p.Asn1779His)
12g.51806788A>GCA128948SCN8Ac.5302A>G (p.Asn1768Asp)
c.3366A>G
c.5179A>G (p.Asn1727Asp)
c.5335A>G (p.Asn1779Asp)
 ClinVar dbSNP
12g.51806788A>TCA384885228SCN8Ac.5302A>T (p.Asn1768Tyr)
c.3366A>T
c.5179A>T (p.Asn1727Tyr)
c.5335A>T (p.Asn1779Tyr)
12g.51806789A>CCA384885229SCN8Ac.5303A>C (p.Asn1768Thr)
c.3367A>C
c.5180A>C (p.Asn1727Thr)
c.5336A>C (p.Asn1779Thr)
12g.51806789A>GCA384885230SCN8Ac.5303A>G (p.Asn1768Ser)
c.3367A>G
c.5180A>G (p.Asn1727Ser)
c.5336A>G (p.Asn1779Ser)
12g.51806789A>TCA384885231SCN8Ac.5303A>T (p.Asn1768Ile)
c.3367A>T
c.5180A>T (p.Asn1727Ile)
c.5336A>T (p.Asn1779Ile)
12g.51806790C>ACA384885233SCN8Ac.5304C>A (p.Asn1768Lys)
c.3368C>A
c.5181C>A (p.Asn1727Lys)
c.5337C>A (p.Asn1779Lys)
12g.51806790C=CA2036193763SCN8Ac.5304C= (p.Asn1768=)
c.3368C=
c.5181C= (p.Asn1727=)
c.5337C= (p.Asn1779=)
12g.51806790C>GCA384885232SCN8Ac.5304C>G (p.Asn1768Lys)
c.3368C>G
c.5181C>G (p.Asn1727Lys)
c.5337C>G (p.Asn1779Lys)
12g.51806790C>TCA6571908SCN8Ac.5304C>T (p.Asn1768=)
c.3368C>T
c.5181C>T (p.Asn1727=)
c.5337C>T (p.Asn1779=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806791T>ACA384885234SCN8Ac.5305T>A (p.Phe1769Ile)
c.3369T>A
c.5182T>A (p.Phe1728Ile)
c.5338T>A (p.Phe1780Ile)
12g.51806791T>CCA384885235SCN8Ac.5305T>C (p.Phe1769Leu)
c.3369T>C
c.5182T>C (p.Phe1728Leu)
c.5338T>C (p.Phe1780Leu)
 ClinVar dbSNP
12g.51806791T>GCA384885236SCN8Ac.5305T>G (p.Phe1769Val)
c.3369T>G
c.5182T>G (p.Phe1728Val)
c.5338T>G (p.Phe1780Val)
12g.51806792T>ACA384885237SCN8Ac.5306T>A (p.Phe1769Tyr)
c.3370T>A
c.5183T>A (p.Phe1728Tyr)
c.5339T>A (p.Phe1780Tyr)
12g.51806792T>CCA384885238SCN8Ac.5306T>C (p.Phe1769Ser)
c.3370T>C
c.5183T>C (p.Phe1728Ser)
c.5339T>C (p.Phe1780Ser)
12g.51806792T>GCA384885239SCN8Ac.5306T>G (p.Phe1769Cys)
c.3370T>G
c.5183T>G (p.Phe1728Cys)
c.5339T>G (p.Phe1780Cys)
 ClinVar

Number of alleles fetched