Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806589C>ACA480061963SCN8Ac.5103C>A (p.Ile1701=)
c.3167C>A
c.4980C>A (p.Ile1660=)
c.5136C>A (p.Ile1712=)
12g.51806589C>GCA384883335SCN8Ac.5103C>G (p.Ile1701Met)
c.3167C>G
c.4980C>G (p.Ile1660Met)
c.5136C>G (p.Ile1712Met)
12g.51806589C>TCA480061965SCN8Ac.5103C>T (p.Ile1701=)
c.3167C>T
c.4980C>T (p.Ile1660=)
c.5136C>T (p.Ile1712=)
12g.51806590A>CCA384883345SCN8Ac.5104A>C (p.Thr1702Pro)
c.3168A>C
c.4981A>C (p.Thr1661Pro)
c.5137A>C (p.Thr1713Pro)
12g.51806590A>GCA384883349SCN8Ac.5104A>G (p.Thr1702Ala)
c.3168A>G
c.4981A>G (p.Thr1661Ala)
c.5137A>G (p.Thr1713Ala)
12g.51806590A>TCA384883354SCN8Ac.5104A>T (p.Thr1702Ser)
c.3168A>T
c.4981A>T (p.Thr1661Ser)
c.5137A>T (p.Thr1713Ser)
12g.51806591C>ACA384883363SCN8Ac.5105C>A (p.Thr1702Lys)
c.3169C>A
c.4982C>A (p.Thr1661Lys)
c.5138C>A (p.Thr1713Lys)
12g.51806591C=CA2036193321SCN8Ac.5105C= (p.Thr1702=)
c.3169C=
c.4982C= (p.Thr1661=)
c.5138C= (p.Thr1713=)
12g.51806591C>GCA384883365SCN8Ac.5105C>G (p.Thr1702Arg)
c.3169C>G
c.4982C>G (p.Thr1661Arg)
c.5138C>G (p.Thr1713Arg)
12g.51806591C>TCA384883366SCN8Ac.5105C>T (p.Thr1702Ile)
c.3169C>T
c.4982C>T (p.Thr1661Ile)
c.5138C>T (p.Thr1713Ile)
12g.51806592A>CCA480061968SCN8Ac.5106A>C (p.Thr1702=)
c.3170A>C
c.4983A>C (p.Thr1661=)
c.5139A>C (p.Thr1713=)
12g.51806592A>GCA480061969SCN8Ac.5106A>G (p.Thr1702=)
c.3170A>G
c.4983A>G (p.Thr1661=)
c.5139A>G (p.Thr1713=)
12g.51806592A>TCA480061970SCN8Ac.5106A>T (p.Thr1702=)
c.3170A>T
c.4983A>T (p.Thr1661=)
c.5139A>T (p.Thr1713=)
12g.51806593dupCA2036193324SCN8Ac.5107dup (p.Thr1703AsnfsTer18)
c.3171dup
c.4984dup (p.Thr1662AsnfsTer18)
c.5140dup (p.Thr1714AsnfsTer18)
 dbSNP
12g.51806593A>CCA384883379SCN8Ac.5107A>C (p.Thr1703Pro)
c.3171A>C
c.4984A>C (p.Thr1662Pro)
c.5140A>C (p.Thr1714Pro)
12g.51806593A>GCA384883383SCN8Ac.5107A>G (p.Thr1703Ala)
c.3171A>G
c.4984A>G (p.Thr1662Ala)
c.5140A>G (p.Thr1714Ala)
 ClinVar
12g.51806593A>TCA384883374SCN8Ac.5107A>T (p.Thr1703Ser)
c.3171A>T
c.4984A>T (p.Thr1662Ser)
c.5140A>T (p.Thr1714Ser)
12g.51806594C>ACA384883388SCN8Ac.5108C>A (p.Thr1703Asn)
c.3172C>A
c.4985C>A (p.Thr1662Asn)
c.5141C>A (p.Thr1714Asn)
 ClinVar dbSNP
12g.51806594C>GCA384883389SCN8Ac.5108C>G (p.Thr1703Ser)
c.3172C>G
c.4985C>G (p.Thr1662Ser)
c.5141C>G (p.Thr1714Ser)
12g.51806594C>TCA384883393SCN8Ac.5108C>T (p.Thr1703Ile)
c.3172C>T
c.4985C>T (p.Thr1662Ile)
c.5141C>T (p.Thr1714Ile)
12g.51806595C>ACA480061978SCN8Ac.5109C>A (p.Thr1703=)
c.3173C>A
c.4986C>A (p.Thr1662=)
c.5142C>A (p.Thr1714=)
12g.51806595C>GCA480061980SCN8Ac.5109C>G (p.Thr1703=)
c.3173C>G
c.4986C>G (p.Thr1662=)
c.5142C>G (p.Thr1714=)
12g.51806595C>TCA480061981SCN8Ac.5109C>T (p.Thr1703=)
c.3173C>T
c.4986C>T (p.Thr1662=)
c.5142C>T (p.Thr1714=)
12g.51806596T>ACA384883405SCN8Ac.5110T>A (p.Ser1704Thr)
c.3174T>A
c.4987T>A (p.Ser1663Thr)
c.5143T>A (p.Ser1715Thr)
 ClinVar dbSNP COSMIC COSMIC
12g.51806596T>CCA384883406SCN8Ac.5110T>C (p.Ser1704Pro)
c.3174T>C
c.4987T>C (p.Ser1663Pro)
c.5143T>C (p.Ser1715Pro)
12g.51806596T>GCA384883409SCN8Ac.5110T>G (p.Ser1704Ala)
c.3174T>G
c.4987T>G (p.Ser1663Ala)
c.5143T>G (p.Ser1715Ala)
12g.51806597C>ACA384883428SCN8Ac.5111C>A (p.Ser1704Ter)
c.3175C>A
c.4988C>A (p.Ser1663Ter)
c.5144C>A (p.Ser1715Ter)
12g.51806597C>GCA384883430SCN8Ac.5111C>G (p.Ser1704Ter)
c.3175C>G
c.4988C>G (p.Ser1663Ter)
c.5144C>G (p.Ser1715Ter)
12g.51806597C>TCA384883432SCN8Ac.5111C>T (p.Ser1704Leu)
c.3175C>T
c.4988C>T (p.Ser1663Leu)
c.5144C>T (p.Ser1715Leu)
12g.51806598A=CA2036193332SCN8Ac.5112A= (p.Ser1704=)
c.3176A=
c.4989A= (p.Ser1663=)
c.5145A= (p.Ser1715=)
12g.51806598A>CCA480061985SCN8Ac.5112A>C (p.Ser1704=)
c.3176A>C
c.4989A>C (p.Ser1663=)
c.5145A>C (p.Ser1715=)
12g.51806598A>GCA6571889SCN8Ac.5112A>G (p.Ser1704=)
c.3176A>G
c.4989A>G (p.Ser1663=)
c.5145A>G (p.Ser1715=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806598A>TCA480061987SCN8Ac.5112A>T (p.Ser1704=)
c.3176A>T
c.4989A>T (p.Ser1663=)
c.5145A>T (p.Ser1715=)
 gnomAD v4
12g.51806599G>ACA384883442SCN8Ac.5113G>A (p.Ala1705Thr)
c.3177G>A
c.4990G>A (p.Ala1664Thr)
c.5146G>A (p.Ala1716Thr)
12g.51806599G>CCA384883443SCN8Ac.5113G>C (p.Ala1705Pro)
c.3177G>C
c.4990G>C (p.Ala1664Pro)
c.5146G>C (p.Ala1716Pro)
12g.51806599G>TCA384883444SCN8Ac.5113G>T (p.Ala1705Ser)
c.3177G>T
c.4990G>T (p.Ala1664Ser)
c.5146G>T (p.Ala1716Ser)
12g.51806600C>ACA384883458SCN8Ac.5114C>A (p.Ala1705Asp)
c.3178C>A
c.4991C>A (p.Ala1664Asp)
c.5147C>A (p.Ala1716Asp)
12g.51806600C>GCA384883454SCN8Ac.5114C>G (p.Ala1705Gly)
c.3178C>G
c.4991C>G (p.Ala1664Gly)
c.5147C>G (p.Ala1716Gly)
12g.51806600C>TCA384883451SCN8Ac.5114C>T (p.Ala1705Val)
c.3178C>T
c.4991C>T (p.Ala1664Val)
c.5147C>T (p.Ala1716Val)
12g.51806601T>ACA480061994SCN8Ac.5115T>A (p.Ala1705=)
c.3179T>A
c.4992T>A (p.Ala1664=)
c.5148T>A (p.Ala1716=)
12g.51806601T>CCA480061996SCN8Ac.5115T>C (p.Ala1705=)
c.3179T>C
c.4992T>C (p.Ala1664=)
c.5148T>C (p.Ala1716=)
12g.51806601T>GCA480061995SCN8Ac.5115T>G (p.Ala1705=)
c.3179T>G
c.4992T>G (p.Ala1664=)
c.5148T>G (p.Ala1716=)
12g.51806602G>ACA384883469SCN8Ac.5116G>A (p.Gly1706Ser)
c.3180G>A
c.4993G>A (p.Gly1665Ser)
c.5149G>A (p.Gly1717Ser)
12g.51806602G>CCA384883472SCN8Ac.5116G>C (p.Gly1706Arg)
c.3180G>C
c.4993G>C (p.Gly1665Arg)
c.5149G>C (p.Gly1717Arg)
12g.51806602G>TCA384883478SCN8Ac.5116G>T (p.Gly1706Cys)
c.3180G>T
c.4993G>T (p.Gly1665Cys)
c.5149G>T (p.Gly1717Cys)
12g.51806603G>ACA384883491SCN8Ac.5117G>A (p.Gly1706Asp)
c.3181G>A
c.4994G>A (p.Gly1665Asp)
c.5150G>A (p.Gly1717Asp)
12g.51806603G>CCA384883508SCN8Ac.5117G>C (p.Gly1706Ala)
c.3181G>C
c.4994G>C (p.Gly1665Ala)
c.5150G>C (p.Gly1717Ala)
12g.51806603G>TCA384883513SCN8Ac.5117G>T (p.Gly1706Val)
c.3181G>T
c.4994G>T (p.Gly1665Val)
c.5150G>T (p.Gly1717Val)
12g.51806604T>ACA480062001SCN8Ac.5118T>A (p.Gly1706=)
c.3182T>A
c.4995T>A (p.Gly1665=)
c.5151T>A (p.Gly1717=)
12g.51806604T>CCA6571890SCN8Ac.5118T>C (p.Gly1706=)
c.3182T>C
c.4995T>C (p.Gly1665=)
c.5151T>C (p.Gly1717=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched