Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.13123977G>ACA2608268026OPTNc.883-18G>A (n.883-18G>A)
c.865-18G>A (n.865-18G>A)
c.712-18G>A (n.712-18G>A)
 gnomAD v4
10g.13123977G>TCA2608268027OPTNc.883-18G>T (n.883-18G>T)
c.865-18G>T (n.865-18G>T)
c.712-18G>T (n.712-18G>T)
 gnomAD v4
10g.13123978G=CA1891467511OPTNc.883-17G= (n.883-17G=)
c.865-17G= (n.865-17G=)
c.712-17G= (n.712-17G=)
10g.13123978G>TCA5410801OPTNc.883-17G>T (n.883-17G>T)
c.865-17G>T (n.865-17G>T)
c.712-17G>T (n.712-17G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13123982T>CCA2574491262OPTNc.883-13T>C (n.883-13T>C)
c.865-13T>C (n.865-13T>C)
c.712-13T>C (n.712-13T>C)
 gnomAD v4
10g.13123983C>ACA2608268028OPTNc.883-12C>A (n.883-12C>A)
c.865-12C>A (n.865-12C>A)
c.712-12C>A (n.712-12C>A)
 gnomAD v4
10g.13123984C>ACA2608268029OPTNc.883-11C>A (n.883-11C>A)
c.865-11C>A (n.865-11C>A)
c.712-11C>A (n.712-11C>A)
 gnomAD v4
10g.13123984C=CA1891467515OPTNc.883-11C= (n.883-11C=)
c.865-11C= (n.865-11C=)
c.712-11C= (n.712-11C=)
10g.13123984C>GCA1891467516OPTNc.883-11C>G (n.883-11C>G)
c.865-11C>G (n.865-11C>G)
c.712-11C>G (n.712-11C>G)
 dbSNP gnomAD v4
10g.13123985C>ACA2608268030OPTNc.883-10C>A (n.883-10C>A)
c.865-10C>A (n.865-10C>A)
c.712-10C>A (n.712-10C>A)
 gnomAD v4
10g.13123985C=CA1891467517OPTNc.883-10C= (n.883-10C=)
c.865-10C= (n.865-10C=)
c.712-10C= (n.712-10C=)
10g.13123985C>TCA5410802OPTNc.883-10C>T (n.883-10C>T)
c.865-10C>T (n.865-10C>T)
c.712-10C>T (n.712-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.13123986G>ACA5410803OPTNc.883-9G>A (n.883-9G>A)
c.865-9G>A (n.865-9G>A)
c.712-9G>A (n.712-9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13123986G=CA1891467519OPTNc.883-9G= (n.883-9G=)
c.865-9G= (n.865-9G=)
c.712-9G= (n.712-9G=)
10g.13123988A>GCA2608268031OPTNc.883-7A>G (n.883-7A>G)
c.865-7A>G (n.865-7A>G)
c.712-7A>G (n.712-7A>G)
 gnomAD v4
10g.13123988A>TCA2786691591OPTNc.883-7A>T (n.883-7A>T)
c.865-7A>T (n.865-7A>T)
c.712-7A>T (n.712-7A>T)
10g.13123989T>CCA915945848OPTNc.883-6T>C (n.883-6T>C)
c.865-6T>C (n.865-6T>C)
c.712-6T>C (n.712-6T>C)
 ClinVar dbSNP
10g.13123989T=CA1891467524OPTNc.883-6T= (n.883-6T=)
c.865-6T= (n.865-6T=)
c.712-6T= (n.712-6T=)
10g.13123990G>ACA2574491263OPTNc.883-5G>A (n.883-5G>A)
c.865-5G>A (n.865-5G>A)
c.712-5G>A (n.712-5G>A)
 ClinVar gnomAD v4
10g.13123992T>CCA925103542OPTNc.883-3T>C (n.883-3T>C)
c.865-3T>C (n.865-3T>C)
c.712-3T>C (n.712-3T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.13123992T=CA1891467529OPTNc.883-3T= (n.883-3T=)
c.865-3T= (n.865-3T=)
c.712-3T= (n.712-3T=)
10g.13123993A>CCA376028916OPTNc.883-2A>C (n.883-2A>C)
c.865-2A>C (n.865-2A>C)
c.712-2A>C (n.712-2A>C)
10g.13123993A>GCA376028918OPTNc.883-2A>G (n.883-2A>G)
c.865-2A>G (n.865-2A>G)
c.712-2A>G (n.712-2A>G)
 gnomAD v4
10g.13123993A>TCA376028917OPTNc.883-2A>T (n.883-2A>T)
c.865-2A>T (n.865-2A>T)
c.712-2A>T (n.712-2A>T)
10g.13123994G>ACA376028919OPTNc.883-1G>A (n.883-1G>A)
c.865-1G>A (n.865-1G>A)
c.712-1G>A (n.712-1G>A)
 gnomAD v4
10g.13123994G>CCA203267398OPTNc.883-1G>C (n.883-1G>C)
c.865-1G>C (n.865-1G>C)
c.712-1G>C (n.712-1G>C)
 dbSNP
10g.13123994G=CA1891467533OPTNc.883-1G= (n.883-1G=)
c.865-1G= (n.865-1G=)
c.712-1G= (n.712-1G=)
10g.13123994G>TCA203267401OPTNc.883-1G>T (n.883-1G>T)
c.865-1G>T (n.865-1G>T)
c.712-1G>T (n.712-1G>T)
 dbSNP
10g.13123995G>ACA376028920OPTNc.883G>A (p.Val295Ile)
c.865G>A (p.Val289Ile)
c.712G>A (p.Val238Ile)
10g.13123995G>CCA376028921OPTNc.883G>C (p.Val295Leu)
c.865G>C (p.Val289Leu)
c.712G>C (p.Val238Leu)
 COSMIC
10g.13123995G=CA1891467538OPTNc.883G= (p.Val295=)
c.865G= (p.Val289=)
c.712G= (p.Val238=)
10g.13123995G>TCA203267404OPTNc.883G>T (p.Val295Phe)
c.865G>T (p.Val289Phe)
c.712G>T (p.Val238Phe)
 dbSNP gnomAD v4
10g.13123996T>ACA376028922OPTNc.884T>A (p.Val295Asp)
c.866T>A (p.Val289Asp)
c.713T>A (p.Val238Asp)
10g.13123996T>CCA5410804OPTNc.884T>C (p.Val295Ala)
c.866T>C (p.Val289Ala)
c.713T>C (p.Val238Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13123996T>GCA376028923OPTNc.884T>G (p.Val295Gly)
c.866T>G (p.Val289Gly)
c.713T>G (p.Val238Gly)
10g.13123996T=CA1891467543OPTNc.884T= (p.Val295=)
c.866T= (p.Val289=)
c.713T= (p.Val238=)
10g.13123997T>ACA468239045OPTNc.885T>A (p.Val295=)
c.867T>A (p.Val289=)
c.714T>A (p.Val238=)
10g.13123997T>CCA5410805OPTNc.885T>C (p.Val295=)
c.867T>C (p.Val289=)
c.714T>C (p.Val238=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13123997T>GCA468239047OPTNc.885T>G (p.Val295=)
c.867T>G (p.Val289=)
c.714T>G (p.Val238=)
10g.13123997T=CA1891467556OPTNc.885T= (p.Val295=)
c.867T= (p.Val289=)
c.714T= (p.Val238=)
10g.13123998G>ACA376028924OPTNc.886G>A (p.Gly296Arg)
c.868G>A (p.Gly290Arg)
c.715G>A (p.Gly239Arg)
 gnomAD v4
10g.13123998G>CCA376028925OPTNc.886G>C (p.Gly296Arg)
c.868G>C (p.Gly290Arg)
c.715G>C (p.Gly239Arg)
10g.13123998G>TCA376028926OPTNc.886G>T (p.Gly296Ter)
c.868G>T (p.Gly290Ter)
c.715G>T (p.Gly239Ter)
10g.13123999G>ACA376028927OPTNc.887G>A (p.Gly296Glu)
c.869G>A (p.Gly290Glu)
c.716G>A (p.Gly239Glu)
10g.13123999G>CCA376028928OPTNc.887G>C (p.Gly296Ala)
c.869G>C (p.Gly290Ala)
c.716G>C (p.Gly239Ala)
10g.13123999G>TCA376028929OPTNc.887G>T (p.Gly296Val)
c.869G>T (p.Gly290Val)
c.716G>T (p.Gly239Val)
10g.13124000A>CCA468239051OPTNc.888A>C (p.Gly296=)
c.870A>C (p.Gly290=)
c.717A>C (p.Gly239=)
10g.13124000A>GCA468239052OPTNc.888A>G (p.Gly296=)
c.870A>G (p.Gly290=)
c.717A>G (p.Gly239=)
10g.13124000A>TCA468239053OPTNc.888A>T (p.Gly296=)
c.870A>T (p.Gly290=)
c.717A>T (p.Gly239=)
10g.13124001A>CCA376028932OPTNc.889A>C (p.Ser297Arg)
c.871A>C (p.Ser291Arg)
c.718A>C (p.Ser240Arg)

Number of alleles fetched