Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.13124076G>ACA203267440OPTNc.964G>A (p.Glu322Lys)
c.946G>A (p.Glu316Lys)
c.793G>A (p.Glu265Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.13124076G>CCA203267443OPTNc.964G>C (p.Glu322Gln)
c.946G>C (p.Glu316Gln)
c.793G>C (p.Glu265Gln)
 dbSNP gnomAD v4
10g.13124076G=CA5410816OPTNc.964G= (p.Glu322=)
c.946G= (p.Glu316=)
c.793G= (p.Glu265=)
10g.13124076G>TCA376029093OPTNc.964G>T (p.Glu322Ter)
c.946G>T (p.Glu316Ter)
c.793G>T (p.Glu265Ter)
 dbSNP gnomAD v4
10g.13124077A>CCA376029094OPTNc.965A>C (p.Glu322Ala)
c.947A>C (p.Glu316Ala)
c.794A>C (p.Glu265Ala)
10g.13124077A>GCA376029095OPTNc.965A>G (p.Glu322Gly)
c.947A>G (p.Glu316Gly)
c.794A>G (p.Glu265Gly)
10g.13124077A>TCA376029096OPTNc.965A>T (p.Glu322Val)
c.947A>T (p.Glu316Val)
c.794A>T (p.Glu265Val)
 gnomAD v4
10g.13124078A>CCA376029097OPTNc.966A>C (p.Glu322Asp)
c.948A>C (p.Glu316Asp)
c.795A>C (p.Glu265Asp)
 gnomAD v4
10g.13124078A>GCA468239219OPTNc.966A>G (p.Glu322=)
c.948A>G (p.Glu316=)
c.795A>G (p.Glu265=)
10g.13124078A>TCA376029098OPTNc.966A>T (p.Glu322Asp)
c.948A>T (p.Glu316Asp)
c.795A>T (p.Glu265Asp)
10g.13124079G>ACA376029099OPTNc.967G>A (p.Ala323Thr)
c.949G>A (p.Ala317Thr)
c.796G>A (p.Ala266Thr)
10g.13124079G>CCA376029100OPTNc.967G>C (p.Ala323Pro)
c.949G>C (p.Ala317Pro)
c.796G>C (p.Ala266Pro)
 dbSNP gnomAD v4
10g.13124079G=CA1891467735OPTNc.967G= (p.Ala323=)
c.949G= (p.Ala317=)
c.796G= (p.Ala266=)
10g.13124079G>TCA376029101OPTNc.967G>T (p.Ala323Ser)
c.949G>T (p.Ala317Ser)
c.796G>T (p.Ala266Ser)
10g.13124080C>ACA376029104OPTNc.968C>A (p.Ala323Asp)
c.950C>A (p.Ala317Asp)
c.797C>A (p.Ala266Asp)
10g.13124080C=CA1891467751OPTNc.968C= (p.Ala323=)
c.950C= (p.Ala317=)
c.797C= (p.Ala266=)
10g.13124080C>GCA376029102OPTNc.968C>G (p.Ala323Gly)
c.950C>G (p.Ala317Gly)
c.797C>G (p.Ala266Gly)
 dbSNP
10g.13124080C>TCA376029103OPTNc.968C>T (p.Ala323Val)
c.950C>T (p.Ala317Val)
c.797C>T (p.Ala266Val)
 gnomAD v4
10g.13124081T>ACA468239225OPTNc.969T>A (p.Ala323=)
c.951T>A (p.Ala317=)
c.798T>A (p.Ala266=)
10g.13124081T>CCA468239227OPTNc.969T>C (p.Ala323=)
c.951T>C (p.Ala317=)
c.798T>C (p.Ala266=)
10g.13124081T>GCA468239228OPTNc.969T>G (p.Ala323=)
c.951T>G (p.Ala317=)
c.798T>G (p.Ala266=)
10g.13124082G>ACA376029105OPTNc.970G>A (p.Glu324Lys)
c.952G>A (p.Glu318Lys)
c.799G>A (p.Glu267Lys)
 gnomAD v4
10g.13124082G>CCA376029106OPTNc.970G>C (p.Glu324Gln)
c.952G>C (p.Glu318Gln)
c.799G>C (p.Glu267Gln)
 COSMIC
10g.13124082G>TCA376029107OPTNc.970G>T (p.Glu324Ter)
c.952G>T (p.Glu318Ter)
c.799G>T (p.Glu267Ter)
10g.13124083A>CCA376029108OPTNc.971A>C (p.Glu324Ala)
c.953A>C (p.Glu318Ala)
c.800A>C (p.Glu267Ala)
10g.13124083A>GCA376029109OPTNc.971A>G (p.Glu324Gly)
c.953A>G (p.Glu318Gly)
c.800A>G (p.Glu267Gly)
10g.13124083A>TCA376029110OPTNc.971A>T (p.Glu324Val)
c.953A>T (p.Glu318Val)
c.800A>T (p.Glu267Val)
10g.13124084G>ACA468239233OPTNc.972G>A (p.Glu324=)
c.954G>A (p.Glu318=)
c.801G>A (p.Glu267=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13124084G>CCA376029111OPTNc.972G>C (p.Glu324Asp)
c.954G>C (p.Glu318Asp)
c.801G>C (p.Glu267Asp)
10g.13124084G=CA1891467756OPTNc.972G= (p.Glu324=)
c.954G= (p.Glu318=)
c.801G= (p.Glu267=)
10g.13124084G>TCA376029112OPTNc.972G>T (p.Glu324Asp)
c.954G>T (p.Glu318Asp)
c.801G>T (p.Glu267Asp)
 gnomAD v4
10g.13124085C>ACA376029113OPTNc.973C>A (p.Leu325Ile)
c.955C>A (p.Leu319Ile)
c.802C>A (p.Leu268Ile)
 gnomAD v4
10g.13124085C>GCA376029114OPTNc.973C>G (p.Leu325Val)
c.955C>G (p.Leu319Val)
c.802C>G (p.Leu268Val)
10g.13124085C>TCA468239237OPTNc.973C>T (p.Leu325=)
c.955C>T (p.Leu319=)
c.802C>T (p.Leu268=)
 gnomAD v4
10g.13124086T>ACA376029116OPTNc.974T>A (p.Leu325Gln)
c.956T>A (p.Leu319Gln)
c.803T>A (p.Leu268Gln)
10g.13124086T>CCA376029117OPTNc.974T>C (p.Leu325Pro)
c.956T>C (p.Leu319Pro)
c.803T>C (p.Leu268Pro)
 gnomAD v4
10g.13124086T>GCA376029115OPTNc.974T>G (p.Leu325Arg)
c.956T>G (p.Leu319Arg)
c.803T>G (p.Leu268Arg)
10g.13124086_13124091delCA2786691592OPTNc.974_979del (p.Leu325_Lys327delinsGln)
c.956_961del (p.Leu319_Lys321delinsGln)
c.803_808del (p.Leu268_Lys270delinsGln)
10g.13124087A>CCA468239240OPTNc.975A>C (p.Leu325=)
c.957A>C (p.Leu319=)
c.804A>C (p.Leu268=)
10g.13124087A>GCA468239242OPTNc.975A>G (p.Leu325=)
c.957A>G (p.Leu319=)
c.804A>G (p.Leu268=)
10g.13124087A>TCA468239241OPTNc.975A>T (p.Leu325=)
c.957A>T (p.Leu319=)
c.804A>T (p.Leu268=)
10g.13124088A=CA1891467769OPTNc.976A= (p.Met326=)
c.958A= (p.Met320=)
c.805A= (p.Met269=)
10g.13124088A>CCA376029118OPTNc.976A>C (p.Met326Leu)
c.958A>C (p.Met320Leu)
c.805A>C (p.Met269Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.13124088A>GCA376029119OPTNc.976A>G (p.Met326Val)
c.958A>G (p.Met320Val)
c.805A>G (p.Met269Val)
10g.13124088A>TCA376029120OPTNc.976A>T (p.Met326Leu)
c.958A>T (p.Met320Leu)
c.805A>T (p.Met269Leu)
10g.13124089T>ACA376029121OPTNc.977T>A (p.Met326Lys)
c.959T>A (p.Met320Lys)
c.806T>A (p.Met269Lys)
10g.13124089T>CCA376029122OPTNc.977T>C (p.Met326Thr)
c.959T>C (p.Met320Thr)
c.806T>C (p.Met269Thr)
 gnomAD v4
10g.13124089T>GCA376029123OPTNc.977T>G (p.Met326Arg)
c.959T>G (p.Met320Arg)
c.806T>G (p.Met269Arg)
10g.13124089_13124092delinsTGAACA1891467773OPTNc.977_980delinsTGAA (p.Met326=)
c.959_962delinsTGAA (p.Met320=)
c.806_809delinsTGAA (p.Met269=)
10g.13124090G>ACA376029124OPTNc.978G>A (p.Met326Ile)
c.960G>A (p.Met320Ile)
c.807G>A (p.Met269Ile)
 dbSNP

Number of alleles fetched