Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.100091034G>ACA4373021COPS6c.535-4G>A (n.535-4G>A)
c.532-4G>A (n.532-4G>A)
c.172-4G>A (n.172-4G>A)
n.531G>A
n.342-4G>A
n.494G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.100091034G=CA1729380752COPS6c.535-4G= (n.535-4G=)
c.532-4G= (n.532-4G=)
c.172-4G= (n.172-4G=)
n.531G=
n.342-4G=
n.494G=
7g.100091035T>CCA4373022COPS6c.535-3T>C (n.535-3T>C)
c.532-3T>C (n.532-3T>C)
c.172-3T>C (n.172-3T>C)
n.532T>C
n.342-3T>C
n.495T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.100091035T=CA1729380753COPS6c.535-3T= (n.535-3T=)
c.532-3T= (n.532-3T=)
c.172-3T= (n.172-3T=)
n.532T=
n.342-3T=
n.495T=
7g.100091036A>CCA368433380COPS6c.535-2A>C (n.535-2A>C)
c.532-2A>C (n.532-2A>C)
c.172-2A>C (n.172-2A>C)
n.533A>C
n.342-2A>C
n.496A>C
7g.100091036A>GCA368433383COPS6c.535-2A>G (n.535-2A>G)
c.532-2A>G (n.532-2A>G)
c.172-2A>G (n.172-2A>G)
n.533A>G
n.342-2A>G
n.496A>G
7g.100091036A>TCA368433385COPS6c.535-2A>T (n.535-2A>T)
c.532-2A>T (n.532-2A>T)
c.172-2A>T (n.172-2A>T)
n.533A>T
n.342-2A>T
n.496A>T
7g.100091037G>ACA368433389COPS6c.535-1G>A (n.535-1G>A)
c.532-1G>A (n.532-1G>A)
c.172-1G>A (n.172-1G>A)
n.534G>A
n.342-1G>A
n.497G>A
7g.100091037G>CCA368433391COPS6c.535-1G>C (n.535-1G>C)
c.532-1G>C (n.532-1G>C)
c.172-1G>C (n.172-1G>C)
n.534G>C
n.342-1G>C
n.497G>C
7g.100091037G>TCA368433387COPS6c.535-1G>T (n.535-1G>T)
c.532-1G>T (n.532-1G>T)
c.172-1G>T (n.172-1G>T)
n.534G>T
n.342-1G>T
n.497G>T
7g.100091038G>ACA368433392COPS6c.535G>A (p.Ala179Thr)
c.532G>A (p.Ala178Thr)
c.172G>A (p.Ala58Thr)
n.535G>A
n.342G>A
n.498G>A
7g.100091038G>CCA368433394COPS6c.535G>C (p.Ala179Pro)
c.532G>C (p.Ala178Pro)
c.172G>C (p.Ala58Pro)
n.535G>C
n.342G>C
n.498G>C
7g.100091038G>TCA368433397COPS6c.535G>T (p.Ala179Ser)
c.532G>T (p.Ala178Ser)
c.172G>T (p.Ala58Ser)
n.535G>T
n.342G>T
n.498G>T
7g.100091039C>ACA368433400COPS6c.536C>A (p.Ala179Asp)
c.533C>A (p.Ala178Asp)
c.173C>A (p.Ala58Asp)
n.536C>A
n.343C>A
n.499C>A
7g.100091039C>GCA368433403COPS6c.536C>G (p.Ala179Gly)
c.533C>G (p.Ala178Gly)
c.173C>G (p.Ala58Gly)
n.536C>G
n.343C>G
n.499C>G
7g.100091039C>TCA368433409COPS6c.536C>T (p.Ala179Val)
c.533C>T (p.Ala178Val)
c.173C>T (p.Ala58Val)
n.536C>T
n.343C>T
n.499C>T
 gnomAD v4
7g.100091040C>ACA456699770COPS6c.537C>A (p.Ala179=)
c.534C>A (p.Ala178=)
c.174C>A (p.Ala58=)
n.537C>A
n.344C>A
n.500C>A
7g.100091040C=CA1729380754COPS6c.537C= (p.Ala179=)
c.534C= (p.Ala178=)
c.174C= (p.Ala58=)
n.537C=
n.344C=
n.500C=
7g.100091040C>GCA456699772COPS6c.537C>G (p.Ala179=)
c.534C>G (p.Ala178=)
c.174C>G (p.Ala58=)
n.537C>G
n.344C>G
n.500C>G
7g.100091040C>TCA4373023COPS6c.537C>T (p.Ala179=)
c.534C>T (p.Ala178=)
c.174C>T (p.Ala58=)
n.537C>T
n.344C>T
n.500C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.100091041A>CCA368433414COPS6c.538A>C (p.Thr180Pro)
c.535A>C (p.Thr179Pro)
c.175A>C (p.Thr59Pro)
n.538A>C
n.345A>C
n.501A>C
7g.100091041A>GCA368433415COPS6c.538A>G (p.Thr180Ala)
c.535A>G (p.Thr179Ala)
c.175A>G (p.Thr59Ala)
n.538A>G
n.345A>G
n.501A>G
7g.100091041A>TCA368433416COPS6c.538A>T (p.Thr180Ser)
c.535A>T (p.Thr179Ser)
c.175A>T (p.Thr59Ser)
n.538A>T
n.345A>T
n.501A>T
7g.100091042C>ACA368433417COPS6c.539C>A (p.Thr180Lys)
c.536C>A (p.Thr179Lys)
c.176C>A (p.Thr59Lys)
n.539C>A
n.346C>A
n.502C>A
7g.100091042C>GCA368433418COPS6c.539C>G (p.Thr180Arg)
c.536C>G (p.Thr179Arg)
c.176C>G (p.Thr59Arg)
n.539C>G
n.346C>G
n.502C>G
7g.100091042C>TCA368433420COPS6c.539C>T (p.Thr180Ile)
c.536C>T (p.Thr179Ile)
c.176C>T (p.Thr59Ile)
n.539C>T
n.346C>T
n.502C>T
7g.100091043A=CA1729380755COPS6c.540A= (p.Thr180=)
c.537A= (p.Thr179=)
c.177A= (p.Thr59=)
n.540A=
n.347A=
n.503A=
7g.100091043A>CCA456699776COPS6c.540A>C (p.Thr180=)
c.537A>C (p.Thr179=)
c.177A>C (p.Thr59=)
n.540A>C
n.347A>C
n.503A>C
7g.100091043A>GCA456699777COPS6c.540A>G (p.Thr180=)
c.537A>G (p.Thr179=)
c.177A>G (p.Thr59=)
n.540A>G
n.347A>G
n.503A>G
 dbSNP
7g.100091043A>TCA456699778COPS6c.540A>T (p.Thr180=)
c.537A>T (p.Thr179=)
c.177A>T (p.Thr59=)
n.540A>T
n.347A>T
n.503A>T
7g.100091044A=CA1729380756COPS6c.541A= (p.Met181=)
c.538A= (p.Met180=)
c.178A= (p.Met60=)
n.541A=
n.348A=
n.504A=
7g.100091044A>CCA368433422COPS6c.541A>C (p.Met181Leu)
c.538A>C (p.Met180Leu)
c.178A>C (p.Met60Leu)
n.541A>C
n.348A>C
n.504A>C
7g.100091044A>GCA368433427COPS6c.541A>G (p.Met181Val)
c.538A>G (p.Met180Val)
c.178A>G (p.Met60Val)
n.541A>G
n.348A>G
n.504A>G
 dbSNP gnomAD v2 gnomAD v4
7g.100091044A>TCA368433424COPS6c.541A>T (p.Met181Leu)
c.538A>T (p.Met180Leu)
c.178A>T (p.Met60Leu)
n.541A>T
n.348A>T
n.504A>T
7g.100091045T>ACA368433431COPS6c.542T>A (p.Met181Lys)
c.539T>A (p.Met180Lys)
c.179T>A (p.Met60Lys)
n.542T>A
n.349T>A
n.505T>A
7g.100091045T>CCA368433437COPS6c.542T>C (p.Met181Thr)
c.539T>C (p.Met180Thr)
c.179T>C (p.Met60Thr)
n.542T>C
n.349T>C
n.505T>C
7g.100091045T>GCA368433434COPS6c.542T>G (p.Met181Arg)
c.539T>G (p.Met180Arg)
c.179T>G (p.Met60Arg)
n.542T>G
n.349T>G
n.505T>G
7g.100091046G>ACA368433440COPS6c.543G>A (p.Met181Ile)
c.540G>A (p.Met180Ile)
c.180G>A (p.Met60Ile)
n.543G>A
n.350G>A
n.506G>A
7g.100091046G>CCA368433445COPS6c.543G>C (p.Met181Ile)
c.540G>C (p.Met180Ile)
c.180G>C (p.Met60Ile)
n.543G>C
n.350G>C
n.506G>C
7g.100091046G>TCA368433442COPS6c.543G>T (p.Met181Ile)
c.540G>T (p.Met180Ile)
c.180G>T (p.Met60Ile)
n.543G>T
n.350G>T
n.506G>T
7g.100091047C>ACA368433448COPS6c.544C>A (p.Leu182Met)
c.541C>A (p.Leu181Met)
c.181C>A (p.Leu61Met)
n.544C>A
n.351C>A
n.507C>A
7g.100091047C>GCA368433450COPS6c.544C>G (p.Leu182Val)
c.541C>G (p.Leu181Val)
c.181C>G (p.Leu61Val)
n.544C>G
n.351C>G
n.507C>G
7g.100091047C>TCA456699781COPS6c.544C>T (p.Leu182=)
c.541C>T (p.Leu181=)
c.181C>T (p.Leu61=)
n.544C>T
n.351C>T
n.507C>T
7g.100091048T>ACA368433452COPS6c.545T>A (p.Leu182Gln)
c.542T>A (p.Leu181Gln)
c.182T>A (p.Leu61Gln)
n.545T>A
n.352T>A
n.508T>A
7g.100091048T>CCA368433454COPS6c.545T>C (p.Leu182Pro)
c.542T>C (p.Leu181Pro)
c.182T>C (p.Leu61Pro)
n.545T>C
n.352T>C
n.508T>C
 gnomAD v4
7g.100091048T>GCA368433457COPS6c.545T>G (p.Leu182Arg)
c.542T>G (p.Leu181Arg)
c.182T>G (p.Leu61Arg)
n.545T>G
n.352T>G
n.508T>G
7g.100091049G>ACA456699782COPS6c.546G>A (p.Leu182=)
c.543G>A (p.Leu181=)
c.183G>A (p.Leu61=)
n.546G>A
n.353G>A
n.509G>A
 COSMIC
7g.100091049G>CCA456699783COPS6c.546G>C (p.Leu182=)
c.543G>C (p.Leu181=)
c.183G>C (p.Leu61=)
n.546G>C
n.353G>C
n.509G>C
7g.100091049G>TCA456699784COPS6c.546G>T (p.Leu182=)
c.543G>T (p.Leu181=)
c.183G>T (p.Leu61=)
n.546G>T
n.353G>T
n.509G>T
7g.100091050T>ACA368433461COPS6c.547T>A (p.Phe183Ile)
c.544T>A (p.Phe182Ile)
c.184T>A (p.Phe62Ile)
n.547T>A
n.354T>A
n.510T>A
7g.100091050T>CCA368433464COPS6c.547T>C (p.Phe183Leu)
c.544T>C (p.Phe182Leu)
c.184T>C (p.Phe62Leu)
n.547T>C
n.354T>C
n.510T>C
7g.100091050T>GCA368433465COPS6c.547T>G (p.Phe183Val)
c.544T>G (p.Phe182Val)
c.184T>G (p.Phe62Val)
n.547T>G
n.354T>G
n.510T>G
7g.100091051T>ACA368433468COPS6c.548T>A (p.Phe183Tyr)
c.545T>A (p.Phe182Tyr)
c.185T>A (p.Phe62Tyr)
n.548T>A
n.355T>A
n.511T>A
7g.100091051T>CCA368433471COPS6c.548T>C (p.Phe183Ser)
c.545T>C (p.Phe182Ser)
c.185T>C (p.Phe62Ser)
n.548T>C
n.355T>C
n.511T>C
7g.100091051T>GCA368433474COPS6c.548T>G (p.Phe183Cys)
c.545T>G (p.Phe182Cys)
c.185T>G (p.Phe62Cys)
n.548T>G
n.355T>G
n.511T>G
7g.100091052T>ACA368433483COPS6c.549T>A (p.Phe183Leu)
c.546T>A (p.Phe182Leu)
c.186T>A (p.Phe62Leu)
n.549T>A
n.356T>A
n.512T>A
7g.100091052T>CCA456699786COPS6c.549T>C (p.Phe183=)
c.546T>C (p.Phe182=)
c.186T>C (p.Phe62=)
n.549T>C
n.356T>C
n.512T>C
7g.100091052T>GCA368433477COPS6c.549T>G (p.Phe183Leu)
c.546T>G (p.Phe182Leu)
c.186T>G (p.Phe62Leu)
n.549T>G
n.356T>G
n.512T>G
7g.100091053G>ACA368433486COPS6c.550G>A (p.Ala184Thr)
c.547G>A (p.Ala183Thr)
c.187G>A (p.Ala63Thr)
n.550G>A
n.357G>A
n.513G>A
7g.100091053G>CCA368433487COPS6c.550G>C (p.Ala184Pro)
c.547G>C (p.Ala183Pro)
c.187G>C (p.Ala63Pro)
n.550G>C
n.357G>C
n.513G>C
7g.100091053G>TCA368433490COPS6c.550G>T (p.Ala184Ser)
c.547G>T (p.Ala183Ser)
c.187G>T (p.Ala63Ser)
n.550G>T
n.357G>T
n.513G>T
7g.100091054C>ACA4373024COPS6c.551C>A (p.Ala184Asp)
c.548C>A (p.Ala183Asp)
c.188C>A (p.Ala63Asp)
n.551C>A
n.358C>A
n.514C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.100091054C=CA1729380757COPS6c.551C= (p.Ala184=)
c.548C= (p.Ala183=)
c.188C= (p.Ala63=)
n.551C=
n.358C=
n.514C=
7g.100091054C>GCA368433502COPS6c.551C>G (p.Ala184Gly)
c.548C>G (p.Ala183Gly)
c.188C>G (p.Ala63Gly)
n.551C>G
n.358C>G
n.514C>G
7g.100091054C>TCA368433505COPS6c.551C>T (p.Ala184Val)
c.548C>T (p.Ala183Val)
c.188C>T (p.Ala63Val)
n.551C>T
n.358C>T
n.514C>T
7g.100091055T>ACA456699792COPS6c.552T>A (p.Ala184=)
c.549T>A (p.Ala183=)
c.189T>A (p.Ala63=)
n.552T>A
n.359T>A
n.515T>A
7g.100091055T>CCA456699791COPS6c.552T>C (p.Ala184=)
c.549T>C (p.Ala183=)
c.189T>C (p.Ala63=)
n.552T>C
n.359T>C
n.515T>C
7g.100091055T>GCA456699790COPS6c.552T>G (p.Ala184=)
c.549T>G (p.Ala183=)
c.189T>G (p.Ala63=)
n.552T>G
n.359T>G
n.515T>G
7g.100091056G>ACA368433509COPS6c.553G>A (p.Glu185Lys)
c.550G>A (p.Glu184Lys)
c.190G>A (p.Glu64Lys)
n.553G>A
n.360G>A
n.516G>A
7g.100091056G>CCA368433512COPS6c.553G>C (p.Glu185Gln)
c.550G>C (p.Glu184Gln)
c.190G>C (p.Glu64Gln)
n.553G>C
n.360G>C
n.516G>C
7g.100091056G>TCA368433514COPS6c.553G>T (p.Glu185Ter)
c.550G>T (p.Glu184Ter)
c.190G>T (p.Glu64Ter)
n.553G>T
n.360G>T
n.516G>T
7g.100091057A>CCA368433517COPS6c.554A>C (p.Glu185Ala)
c.551A>C (p.Glu184Ala)
c.191A>C (p.Glu64Ala)
n.554A>C
n.361A>C
n.517A>C
7g.100091057A>GCA368433520COPS6c.554A>G (p.Glu185Gly)
c.551A>G (p.Glu184Gly)
c.191A>G (p.Glu64Gly)
n.554A>G
n.361A>G
n.517A>G
7g.100091057A>TCA368433523COPS6c.554A>T (p.Glu185Val)
c.551A>T (p.Glu184Val)
c.191A>T (p.Glu64Val)
n.554A>T
n.361A>T
n.517A>T
7g.100091058G>ACA456699796COPS6c.555G>A (p.Glu185=)
c.552G>A (p.Glu184=)
c.192G>A (p.Glu64=)
n.555G>A
n.362G>A
n.518G>A
7g.100091058G>CCA368433526COPS6c.555G>C (p.Glu185Asp)
c.552G>C (p.Glu184Asp)
c.192G>C (p.Glu64Asp)
n.555G>C
n.362G>C
n.518G>C
7g.100091058G>TCA368433527COPS6c.555G>T (p.Glu185Asp)
c.552G>T (p.Glu184Asp)
c.192G>T (p.Glu64Asp)
n.555G>T
n.362G>T
n.518G>T
 COSMIC
7g.100091059C>ACA368433531COPS6c.556C>A (p.Leu186Met)
c.553C>A (p.Leu185Met)
c.193C>A (p.Leu65Met)
n.556C>A
n.363C>A
n.519C>A
7g.100091059C=CA1729380758COPS6c.556C= (p.Leu186=)
c.553C= (p.Leu185=)
c.193C= (p.Leu65=)
n.556C=
n.363C=
n.519C=
7g.100091059C>GCA368433533COPS6c.556C>G (p.Leu186Val)
c.553C>G (p.Leu185Val)
c.193C>G (p.Leu65Val)
n.556C>G
n.363C>G
n.519C>G
7g.100091059C>TCA456699799COPS6c.556C>T (p.Leu186=)
c.553C>T (p.Leu185=)
c.193C>T (p.Leu65=)
n.556C>T
n.363C>T
n.519C>T
 dbSNP gnomAD v2 gnomAD v4
7g.100091060T>ACA368433535COPS6c.557T>A (p.Leu186Gln)
c.554T>A (p.Leu185Gln)
c.194T>A (p.Leu65Gln)
n.557T>A
n.364T>A
n.520T>A
7g.100091060T>CCA368433538COPS6c.557T>C (p.Leu186Pro)
c.554T>C (p.Leu185Pro)
c.194T>C (p.Leu65Pro)
n.557T>C
n.364T>C
n.520T>C
7g.100091060T>GCA368433539COPS6c.557T>G (p.Leu186Arg)
c.554T>G (p.Leu185Arg)
c.194T>G (p.Leu65Arg)
n.557T>G
n.364T>G
n.520T>G
7g.100091061G>ACA456699804COPS6c.558G>A (p.Leu186=)
c.555G>A (p.Leu185=)
c.195G>A (p.Leu65=)
n.558G>A
n.365G>A
n.521G>A
 dbSNP gnomAD v3 gnomAD v4
7g.100091061G>CCA456699805COPS6c.558G>C (p.Leu186=)
c.555G>C (p.Leu185=)
c.195G>C (p.Leu65=)
n.558G>C
n.365G>C
n.521G>C
 dbSNP gnomAD v3 gnomAD v4
7g.100091061G=CA1729380759COPS6c.558G= (p.Leu186=)
c.555G= (p.Leu185=)
c.195G= (p.Leu65=)
n.558G=
n.365G=
n.521G=
7g.100091061G>TCA456699806COPS6c.558G>T (p.Leu186=)
c.555G>T (p.Leu185=)
c.195G>T (p.Leu65=)
n.558G>T
n.365G>T
n.521G>T
 gnomAD v4
7g.100091062A>CCA368433542COPS6c.559A>C (p.Thr187Pro)
c.556A>C (p.Thr186Pro)
c.196A>C (p.Thr66Pro)
n.559A>C
n.366A>C
n.522A>C
7g.100091062A>GCA368433547COPS6c.559A>G (p.Thr187Ala)
c.556A>G (p.Thr186Ala)
c.196A>G (p.Thr66Ala)
n.559A>G
n.366A>G
n.522A>G
 gnomAD v4
7g.100091062A>TCA368433548COPS6c.559A>T (p.Thr187Ser)
c.556A>T (p.Thr186Ser)
c.196A>T (p.Thr66Ser)
n.559A>T
n.366A>T
n.522A>T
7g.100091063C>ACA368433551COPS6c.560C>A (p.Thr187Asn)
c.557C>A (p.Thr186Asn)
c.197C>A (p.Thr66Asn)
n.560C>A
n.367C>A
n.523C>A
7g.100091063C>GCA368433553COPS6c.560C>G (p.Thr187Ser)
c.557C>G (p.Thr186Ser)
c.197C>G (p.Thr66Ser)
n.560C>G
n.367C>G
n.523C>G
7g.100091063C>TCA368433556COPS6c.560C>T (p.Thr187Ile)
c.557C>T (p.Thr186Ile)
c.197C>T (p.Thr66Ile)
n.560C>T
n.367C>T
n.523C>T
7g.100091064C>ACA456699808COPS6c.561C>A (p.Thr187=)
c.558C>A (p.Thr186=)
c.198C>A (p.Thr66=)
n.561C>A
n.368C>A
n.524C>A
7g.100091064C>GCA456699809COPS6c.561C>G (p.Thr187=)
c.558C>G (p.Thr186=)
c.198C>G (p.Thr66=)
n.561C>G
n.368C>G
n.524C>G
7g.100091064C>TCA456699811COPS6c.561C>T (p.Thr187=)
c.558C>T (p.Thr186=)
c.198C>T (p.Thr66=)
n.561C>T
n.368C>T
n.524C>T
7g.100091065T>ACA368433564COPS6c.562T>A (p.Tyr188Asn)
c.559T>A (p.Tyr187Asn)
c.199T>A (p.Tyr67Asn)
n.562T>A
n.369T>A
n.525T>A
7g.100091065T>CCA368433561COPS6c.562T>C (p.Tyr188His)
c.559T>C (p.Tyr187His)
c.199T>C (p.Tyr67His)
n.562T>C
n.369T>C
n.525T>C
 COSMIC
7g.100091065T>GCA368433559COPS6c.562T>G (p.Tyr188Asp)
c.559T>G (p.Tyr187Asp)
c.199T>G (p.Tyr67Asp)
n.562T>G
n.369T>G
n.525T>G
 gnomAD v4
7g.100091066A>CCA368433565COPS6c.563A>C (p.Tyr188Ser)
c.560A>C (p.Tyr187Ser)
c.200A>C (p.Tyr67Ser)
n.563A>C
n.370A>C
n.526A>C
7g.100091066A>GCA368433567COPS6c.563A>G (p.Tyr188Cys)
c.560A>G (p.Tyr187Cys)
c.200A>G (p.Tyr67Cys)
n.563A>G
n.370A>G
n.526A>G
7g.100091066A>TCA368433569COPS6c.563A>T (p.Tyr188Phe)
c.560A>T (p.Tyr187Phe)
c.200A>T (p.Tyr67Phe)
n.563A>T
n.370A>T
n.526A>T
7g.100091067C>ACA368433572COPS6c.564C>A (p.Tyr188Ter)
c.561C>A (p.Tyr187Ter)
c.201C>A (p.Tyr67Ter)
n.564C>A
n.371C>A
n.527C>A
7g.100091067C=CA1729380760COPS6c.564C= (p.Tyr188=)
c.561C= (p.Tyr187=)
c.201C= (p.Tyr67=)
n.564C=
n.371C=
n.527C=
7g.100091067C>GCA368433577COPS6c.564C>G (p.Tyr188Ter)
c.561C>G (p.Tyr187Ter)
c.201C>G (p.Tyr67Ter)
n.564C>G
n.371C>G
n.527C>G
7g.100091067C>TCA163197246COPS6c.564C>T (p.Tyr188=)
c.561C>T (p.Tyr187=)
c.201C>T (p.Tyr67=)
n.564C>T
n.371C>T
n.527C>T
 dbSNP
7g.100091068A>CCA368433582COPS6c.565A>C (p.Thr189Pro)
c.562A>C (p.Thr188Pro)
c.202A>C (p.Thr68Pro)
n.565A>C
n.372A>C
n.528A>C
7g.100091068A>GCA368433585COPS6c.565A>G (p.Thr189Ala)
c.562A>G (p.Thr188Ala)
c.202A>G (p.Thr68Ala)
n.565A>G
n.372A>G
n.528A>G
 gnomAD v4
7g.100091068A>TCA368433588COPS6c.565A>T (p.Thr189Ser)
c.562A>T (p.Thr188Ser)
c.202A>T (p.Thr68Ser)
n.565A>T
n.372A>T
n.528A>T
7g.100091069C>ACA368433592COPS6c.566C>A (p.Thr189Asn)
c.563C>A (p.Thr188Asn)
c.203C>A (p.Thr68Asn)
n.566C>A
n.373C>A
n.529C>A
7g.100091069C>GCA368433594COPS6c.566C>G (p.Thr189Ser)
c.563C>G (p.Thr188Ser)
c.203C>G (p.Thr68Ser)
n.566C>G
n.373C>G
n.529C>G
7g.100091069C>TCA368433597COPS6c.566C>T (p.Thr189Ile)
c.563C>T (p.Thr188Ile)
c.203C>T (p.Thr68Ile)
n.566C>T
n.373C>T
n.529C>T
7g.100091070T>ACA456699814COPS6c.567T>A (p.Thr189=)
c.564T>A (p.Thr188=)
c.204T>A (p.Thr68=)
n.567T>A
n.374T>A
n.530T>A
7g.100091070T>CCA456699815COPS6c.567T>C (p.Thr189=)
c.564T>C (p.Thr188=)
c.204T>C (p.Thr68=)
n.567T>C
n.374T>C
n.530T>C
7g.100091070T>GCA456699816COPS6c.567T>G (p.Thr189=)
c.564T>G (p.Thr188=)
c.204T>G (p.Thr68=)
n.567T>G
n.374T>G
n.530T>G
7g.100091071C>ACA368433600COPS6c.568C>A (p.Leu190Met)
c.565C>A (p.Leu189Met)
c.205C>A (p.Leu69Met)
n.568C>A
n.375C>A
n.531C>A
7g.100091071C=CA1729380761COPS6c.568C= (p.Leu190=)
c.565C= (p.Leu189=)
c.205C= (p.Leu69=)
n.568C=
n.375C=
n.531C=
7g.100091071C>GCA368433603COPS6c.568C>G (p.Leu190Val)
c.565C>G (p.Leu189Val)
c.205C>G (p.Leu69Val)
n.568C>G
n.375C>G
n.531C>G
7g.100091071C>TCA4373025COPS6c.568C>T (p.Leu190=)
c.565C>T (p.Leu189=)
c.205C>T (p.Leu69=)
n.568C>T
n.375C>T
n.531C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.100091072T>ACA368433611COPS6c.569T>A (p.Leu190Gln)
c.566T>A (p.Leu189Gln)
c.206T>A (p.Leu69Gln)
n.569T>A
n.376T>A
n.532T>A
7g.100091072T>CCA368433606COPS6c.569T>C (p.Leu190Pro)
c.566T>C (p.Leu189Pro)
c.206T>C (p.Leu69Pro)
n.569T>C
n.376T>C
n.532T>C
7g.100091072T>GCA368433608COPS6c.569T>G (p.Leu190Arg)
c.566T>G (p.Leu189Arg)
c.206T>G (p.Leu69Arg)
n.569T>G
n.376T>G
n.532T>G
7g.100091073G>ACA456699817COPS6c.570G>A (p.Leu190=)
c.567G>A (p.Leu189=)
c.207G>A (p.Leu69=)
n.570G>A
n.377G>A
n.533G>A
 dbSNP gnomAD v2 gnomAD v4
7g.100091073G>CCA456699818COPS6c.570G>C (p.Leu190=)
c.567G>C (p.Leu189=)
c.207G>C (p.Leu69=)
n.570G>C
n.377G>C
n.533G>C
7g.100091073G=CA1729380762COPS6c.570G= (p.Leu190=)
c.567G= (p.Leu189=)
c.207G= (p.Leu69=)
n.570G=
n.377G=
n.533G=
7g.100091073G>TCA456699819COPS6c.570G>T (p.Leu190=)
c.567G>T (p.Leu189=)
c.207G>T (p.Leu69=)
n.570G>T
n.377G>T
n.533G>T
7g.100091074G>ACA368433614COPS6c.571G>A (p.Ala191Thr)
c.568G>A (p.Ala190Thr)
c.208G>A (p.Ala70Thr)
n.571G>A
n.378G>A
n.534G>A
7g.100091074G>CCA368433617COPS6c.571G>C (p.Ala191Pro)
c.568G>C (p.Ala190Pro)
c.208G>C (p.Ala70Pro)
n.571G>C
n.378G>C
n.534G>C
7g.100091074G>TCA368433620COPS6c.571G>T (p.Ala191Ser)
c.568G>T (p.Ala190Ser)
c.208G>T (p.Ala70Ser)
n.571G>T
n.378G>T
n.534G>T
7g.100091075C>ACA368433627COPS6c.572C>A (p.Ala191Asp)
c.569C>A (p.Ala190Asp)
c.209C>A (p.Ala70Asp)
n.572C>A
n.379C>A
n.535C>A
 gnomAD v4
7g.100091075C>GCA368433625COPS6c.572C>G (p.Ala191Gly)
c.569C>G (p.Ala190Gly)
c.209C>G (p.Ala70Gly)
n.572C>G
n.379C>G
n.535C>G
7g.100091075C>TCA368433623COPS6c.572C>T (p.Ala191Val)
c.569C>T (p.Ala190Val)
c.209C>T (p.Ala70Val)
n.572C>T
n.379C>T
n.535C>T
7g.100091076C>ACA456699820COPS6c.573C>A (p.Ala191=)
c.570C>A (p.Ala190=)
c.210C>A (p.Ala70=)
n.573C>A
n.380C>A
n.536C>A
7g.100091076C>GCA456699821COPS6c.573C>G (p.Ala191=)
c.570C>G (p.Ala190=)
c.210C>G (p.Ala70=)
n.573C>G
n.380C>G
n.536C>G
7g.100091076C>TCA456699822COPS6c.573C>T (p.Ala191=)
c.570C>T (p.Ala190=)
c.210C>T (p.Ala70=)
n.573C>T
n.380C>T
n.536C>T
7g.100091078_100091079delCA645541462COPS6c.575_576del (p.Thr192ArgfsTer27)
c.572_573del (p.Thr191ArgfsTer27)
c.212_213del (p.Thr71ArgfsTer27)
n.575_576del
n.382_383del
n.538_539del
 COSMIC
7g.100091077A>CCA368433633COPS6c.574A>C (p.Thr192Pro)
c.571A>C (p.Thr191Pro)
c.211A>C (p.Thr71Pro)
n.574A>C
n.381A>C
n.537A>C
 gnomAD v4
7g.100091077A>GCA368433634COPS6c.574A>G (p.Thr192Ala)
c.571A>G (p.Thr191Ala)
c.211A>G (p.Thr71Ala)
n.574A>G
n.381A>G
n.537A>G
7g.100091077A>TCA368433638COPS6c.574A>T (p.Thr192Ser)
c.571A>T (p.Thr191Ser)
c.211A>T (p.Thr71Ser)
n.574A>T
n.381A>T
n.537A>T
7g.100091078C>ACA368433641COPS6c.575C>A (p.Thr192Lys)
c.572C>A (p.Thr191Lys)
c.212C>A (p.Thr71Lys)
n.575C>A
n.382C>A
n.538C>A
7g.100091078C>GCA368433644COPS6c.575C>G (p.Thr192Arg)
c.572C>G (p.Thr191Arg)
c.212C>G (p.Thr71Arg)
n.575C>G
n.382C>G
n.538C>G
7g.100091078C>TCA368433646COPS6c.575C>T (p.Thr192Ile)
c.572C>T (p.Thr191Ile)
c.212C>T (p.Thr71Ile)
n.575C>T
n.382C>T
n.538C>T
7g.100091079A>CCA456699825COPS6c.576A>C (p.Thr192=)
c.573A>C (p.Thr191=)
c.213A>C (p.Thr71=)
n.576A>C
n.383A>C
n.539A>C
7g.100091079A>GCA456699824COPS6c.576A>G (p.Thr192=)
c.573A>G (p.Thr191=)
c.213A>G (p.Thr71=)
n.576A>G
n.383A>G
n.539A>G
7g.100091079A>TCA456699823COPS6c.576A>T (p.Thr192=)
c.573A>T (p.Thr191=)
c.213A>T (p.Thr71=)
n.576A>T
n.383A>T
n.539A>T
7g.100091080G>ACA368433652COPS6c.577G>A (p.Glu193Lys)
c.574G>A (p.Glu192Lys)
c.214G>A (p.Glu72Lys)
n.577G>A
n.384G>A
n.540G>A
7g.100091080G>CCA368433655COPS6c.577G>C (p.Glu193Gln)
c.574G>C (p.Glu192Gln)
c.214G>C (p.Glu72Gln)
n.577G>C
n.384G>C
n.540G>C
7g.100091080G>TCA368433654COPS6c.577G>T (p.Glu193Ter)
c.574G>T (p.Glu192Ter)
c.214G>T (p.Glu72Ter)
n.577G>T
n.384G>T
n.540G>T
7g.100091081A>CCA368433658COPS6c.578A>C (p.Glu193Ala)
c.575A>C (p.Glu192Ala)
c.215A>C (p.Glu72Ala)
n.578A>C
n.385A>C
n.541A>C
7g.100091081A>GCA368433660COPS6c.578A>G (p.Glu193Gly)
c.575A>G (p.Glu192Gly)
c.215A>G (p.Glu72Gly)
n.578A>G
n.385A>G
n.541A>G
7g.100091081A>TCA368433661COPS6c.578A>T (p.Glu193Val)
c.575A>T (p.Glu192Val)
c.215A>T (p.Glu72Val)
n.578A>T
n.385A>T
n.541A>T
7g.100091082G>ACA4373026COPS6c.579G>A (p.Glu193=)
c.576G>A (p.Glu192=)
c.216G>A (p.Glu72=)
n.579G>A
n.386G>A
n.542G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.100091082G>CCA368433664COPS6c.579G>C (p.Glu193Asp)
c.576G>C (p.Glu192Asp)
c.216G>C (p.Glu72Asp)
n.579G>C
n.386G>C
n.542G>C
7g.100091082G=CA1729380763COPS6c.579G= (p.Glu193=)
c.576G= (p.Glu192=)
c.216G= (p.Glu72=)
n.579G=
n.386G=
n.542G=
7g.100091082G>TCA368433666COPS6c.579G>T (p.Glu193Asp)
c.576G>T (p.Glu192Asp)
c.216G>T (p.Glu72Asp)
n.579G>T
n.386G>T
n.542G>T
7g.100091083G>ACA368433667COPS6c.580G>A (p.Glu194Lys)
c.577G>A (p.Glu193Lys)
c.217G>A (p.Glu73Lys)
n.580G>A
n.387G>A
n.543G>A
7g.100091083G>CCA368433669COPS6c.580G>C (p.Glu194Gln)
c.577G>C (p.Glu193Gln)
c.217G>C (p.Glu73Gln)
n.580G>C
n.387G>C
n.543G>C
7g.100091083G>TCA368433671COPS6c.580G>T (p.Glu194Ter)
c.577G>T (p.Glu193Ter)
c.217G>T (p.Glu73Ter)
n.580G>T
n.387G>T
n.543G>T
7g.100091084A>CCA368433673COPS6c.581A>C (p.Glu194Ala)
c.578A>C (p.Glu193Ala)
c.218A>C (p.Glu73Ala)
n.581A>C
n.388A>C
n.544A>C
7g.100091084A>GCA368433675COPS6c.581A>G (p.Glu194Gly)
c.578A>G (p.Glu193Gly)
c.218A>G (p.Glu73Gly)
n.581A>G
n.388A>G
n.544A>G
7g.100091084A>TCA368433677COPS6c.581A>T (p.Glu194Val)
c.578A>T (p.Glu193Val)
c.218A>T (p.Glu73Val)
n.581A>T
n.388A>T
n.544A>T
7g.100091085A=CA1729380764COPS6c.582A= (p.Glu194=)
c.579A= (p.Glu193=)
c.219A= (p.Glu73=)
n.582A=
n.389A=
n.545A=
7g.100091085A>CCA368433679COPS6c.582A>C (p.Glu194Asp)
c.579A>C (p.Glu193Asp)
c.219A>C (p.Glu73Asp)
n.582A>C
n.389A>C
n.545A>C
7g.100091085A>GCA456699826COPS6c.582A>G (p.Glu194=)
c.579A>G (p.Glu193=)
c.219A>G (p.Glu73=)
n.582A>G
n.389A>G
n.545A>G
 dbSNP gnomAD v2 gnomAD v4
7g.100091085A>TCA368433680COPS6c.582A>T (p.Glu194Asp)
c.579A>T (p.Glu193Asp)
c.219A>T (p.Glu73Asp)
n.582A>T
n.389A>T
n.545A>T
7g.100091086G>ACA368433683COPS6c.583G>A (p.Ala195Thr)
c.580G>A (p.Ala194Thr)
c.220G>A (p.Ala74Thr)
n.583G>A
n.390G>A
n.546G>A
 gnomAD v4
7g.100091086G>CCA368433685COPS6c.583G>C (p.Ala195Pro)
c.580G>C (p.Ala194Pro)
c.220G>C (p.Ala74Pro)
n.583G>C
n.390G>C
n.546G>C
7g.100091086G>TCA368433686COPS6c.583G>T (p.Ala195Ser)
c.580G>T (p.Ala194Ser)
c.220G>T (p.Ala74Ser)
n.583G>T
n.390G>T
n.546G>T
7g.100091087C>ACA368433688COPS6c.584C>A (p.Ala195Glu)
c.581C>A (p.Ala194Glu)
c.221C>A (p.Ala74Glu)
n.584C>A
n.391C>A
n.547C>A
7g.100091087C=CA1729380765COPS6c.584C= (p.Ala195=)
c.581C= (p.Ala194=)
c.221C= (p.Ala74=)
n.584C=
n.391C=
n.547C=
7g.100091087C>GCA368433690COPS6c.584C>G (p.Ala195Gly)
c.581C>G (p.Ala194Gly)
c.221C>G (p.Ala74Gly)
n.584C>G
n.391C>G
n.547C>G
 gnomAD v4
7g.100091087C>TCA4373027COPS6c.584C>T (p.Ala195Val)
c.581C>T (p.Ala194Val)
c.221C>T (p.Ala74Val)
n.584C>T
n.391C>T
n.547C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.100091088G>ACA4373028COPS6c.585G>A (p.Ala195=)
c.582G>A (p.Ala194=)
c.222G>A (p.Ala74=)
n.585G>A
n.392G>A
n.548G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.100091088G>CCA456699827COPS6c.585G>C (p.Ala195=)
c.582G>C (p.Ala194=)
c.222G>C (p.Ala74=)
n.585G>C
n.392G>C
n.548G>C
7g.100091088G=CA1729380766COPS6c.585G= (p.Ala195=)
c.582G= (p.Ala194=)
c.222G= (p.Ala74=)
n.585G=
n.392G=
n.548G=
7g.100091088G>TCA456699828COPS6c.585G>T (p.Ala195=)
c.582G>T (p.Ala194=)
c.222G>T (p.Ala74=)
n.585G>T
n.392G>T
n.548G>T
7g.100091089G>ACA368433693COPS6c.586G>A (p.Glu196Lys)
c.583G>A (p.Glu195Lys)
c.223G>A (p.Glu75Lys)
n.586G>A
n.393G>A
n.549G>A
 COSMIC
7g.100091089G>CCA4373029COPS6c.586G>C (p.Glu196Gln)
c.583G>C (p.Glu195Gln)
c.223G>C (p.Glu75Gln)
n.586G>C
n.393G>C
n.549G>C
 dbSNP ExAC gnomAD v2
7g.100091089G=CA1729380767COPS6c.586G= (p.Glu196=)
c.583G= (p.Glu195=)
c.223G= (p.Glu75=)
n.586G=
n.393G=
n.549G=
7g.100091089G>TCA368433696COPS6c.586G>T (p.Glu196Ter)
c.583G>T (p.Glu195Ter)
c.223G>T (p.Glu75Ter)
n.586G>T
n.393G>T
n.549G>T
7g.100091090A>CCA368433697COPS6c.587A>C (p.Glu196Ala)
c.584A>C (p.Glu195Ala)
c.224A>C (p.Glu75Ala)
n.587A>C
n.394A>C
n.550A>C
7g.100091090A>GCA368433698COPS6c.587A>G (p.Glu196Gly)
c.584A>G (p.Glu195Gly)
c.224A>G (p.Glu75Gly)
n.587A>G
n.394A>G
n.550A>G
7g.100091090A>TCA368433701COPS6c.587A>T (p.Glu196Val)
c.584A>T (p.Glu195Val)
c.224A>T (p.Glu75Val)
n.587A>T
n.394A>T
n.550A>T
7g.100091091A>CCA368433707COPS6c.588A>C (p.Glu196Asp)
c.585A>C (p.Glu195Asp)
c.225A>C (p.Glu75Asp)
n.588A>C
n.395A>C
n.551A>C
7g.100091091A>GCA456699829COPS6c.588A>G (p.Glu196=)
c.585A>G (p.Glu195=)
c.225A>G (p.Glu75=)
n.588A>G
n.395A>G
n.551A>G
7g.100091091A>TCA368433706COPS6c.588A>T (p.Glu196Asp)
c.585A>T (p.Glu195Asp)
c.225A>T (p.Glu75Asp)
n.588A>T
n.395A>T
n.551A>T
7g.100091092C>ACA368433711COPS6c.589C>A (p.Arg197Ser)
c.586C>A (p.Arg196Ser)
c.226C>A (p.Arg76Ser)
n.589C>A
n.396C>A
n.552C>A
7g.100091092C=CA1729380768COPS6c.589C= (p.Arg197=)
c.586C= (p.Arg196=)
c.226C= (p.Arg76=)
n.589C=
n.396C=
n.552C=
7g.100091092C>GCA368433714COPS6c.589C>G (p.Arg197Gly)
c.586C>G (p.Arg196Gly)
c.226C>G (p.Arg76Gly)
n.589C>G
n.396C>G
n.552C>G
7g.100091092C>TCA368433717COPS6c.589C>T (p.Arg197Cys)
c.586C>T (p.Arg196Cys)
c.226C>T (p.Arg76Cys)
n.589C>T
n.396C>T
n.552C>T
 dbSNP gnomAD v2 gnomAD v4
7g.100091093G>ACA368433721COPS6c.590G>A (p.Arg197His)
c.587G>A (p.Arg196His)
c.227G>A (p.Arg76His)
n.590G>A
n.397G>A
n.553G>A
 dbSNP COSMIC
7g.100091093G>CCA368433726COPS6c.590G>C (p.Arg197Pro)
c.587G>C (p.Arg196Pro)
c.227G>C (p.Arg76Pro)
n.590G>C
n.397G>C
n.553G>C
7g.100091093G=CA1729380769COPS6c.590G= (p.Arg197=)
c.587G= (p.Arg196=)
c.227G= (p.Arg76=)
n.590G=
n.397G=
n.553G=
7g.100091093G>TCA368433729COPS6c.590G>T (p.Arg197Leu)
c.587G>T (p.Arg196Leu)
c.227G>T (p.Arg76Leu)
n.590G>T
n.397G>T
n.553G>T
7g.100091094C>ACA456699830COPS6c.591C>A (p.Arg197=)
c.588C>A (p.Arg196=)
c.228C>A (p.Arg76=)
n.591C>A
n.398C>A
n.554C>A
7g.100091094C=CA1729380770COPS6c.591C= (p.Arg197=)
c.588C= (p.Arg196=)
c.228C= (p.Arg76=)
n.591C=
n.398C=
n.554C=
7g.100091094C>GCA456699831COPS6c.591C>G (p.Arg197=)
c.588C>G (p.Arg196=)
c.228C>G (p.Arg76=)
n.591C>G
n.398C>G
n.554C>G
7g.100091094C>TCA163197265COPS6c.591C>T (p.Arg197=)
c.588C>T (p.Arg196=)
c.228C>T (p.Arg76=)
n.591C>T
n.398C>T
n.554C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.100091095A>CCA368433733COPS6c.592A>C (p.Ile198Leu)
c.589A>C (p.Ile197Leu)
c.229A>C (p.Ile77Leu)
n.592A>C
n.399A>C
n.555A>C
7g.100091095A>GCA368433736COPS6c.592A>G (p.Ile198Val)
c.589A>G (p.Ile197Val)
c.229A>G (p.Ile77Val)
n.592A>G
n.399A>G
n.555A>G
7g.100091095A>TCA368433739COPS6c.592A>T (p.Ile198Phe)
c.589A>T (p.Ile197Phe)
c.229A>T (p.Ile77Phe)
n.592A>T
n.399A>T
n.555A>T
7g.100091096T>ACA368433740COPS6c.593T>A (p.Ile198Asn)
c.590T>A (p.Ile197Asn)
c.230T>A (p.Ile77Asn)
n.593T>A
n.400T>A
n.556T>A
7g.100091096T>CCA368433744COPS6c.593T>C (p.Ile198Thr)
c.590T>C (p.Ile197Thr)
c.230T>C (p.Ile77Thr)
n.593T>C
n.400T>C
n.556T>C
 gnomAD v4
7g.100091096T>GCA368433747COPS6c.593T>G (p.Ile198Ser)
c.590T>G (p.Ile197Ser)
c.230T>G (p.Ile77Ser)
n.593T>G
n.400T>G
n.556T>G
7g.100091097T>ACA456699832COPS6c.594T>A (p.Ile198=)
c.591T>A (p.Ile197=)
c.231T>A (p.Ile77=)
n.594T>A
n.401T>A
n.557T>A
7g.100091097T>CCA456699833COPS6c.594T>C (p.Ile198=)
c.591T>C (p.Ile197=)
c.231T>C (p.Ile77=)
n.594T>C
n.401T>C
n.557T>C
7g.100091097T>GCA368433750COPS6c.594T>G (p.Ile198Met)
c.591T>G (p.Ile197Met)
c.231T>G (p.Ile77Met)
n.594T>G
n.401T>G
n.557T>G
7g.100091098G>ACA368433757COPS6c.595G>A (p.Gly199Ser)
c.592G>A (p.Gly198Ser)
c.232G>A (p.Gly78Ser)
n.595G>A
n.402G>A
n.558G>A
 gnomAD v4
7g.100091098G>CCA368433756COPS6c.595G>C (p.Gly199Arg)
c.592G>C (p.Gly198Arg)
c.232G>C (p.Gly78Arg)
n.595G>C
n.402G>C
n.558G>C
7g.100091098G>TCA368433753COPS6c.595G>T (p.Gly199Cys)
c.592G>T (p.Gly198Cys)
c.232G>T (p.Gly78Cys)
n.595G>T
n.402G>T
n.558G>T
7g.100091099G>ACA368433760COPS6c.596G>A (p.Gly199Asp)
c.593G>A (p.Gly198Asp)
c.233G>A (p.Gly78Asp)
n.596G>A
n.403G>A
n.559G>A
7g.100091099G>CCA368433765COPS6c.596G>C (p.Gly199Ala)
c.593G>C (p.Gly198Ala)
c.233G>C (p.Gly78Ala)
n.596G>C
n.403G>C
n.559G>C
7g.100091099G>TCA368433762COPS6c.596G>T (p.Gly199Val)
c.593G>T (p.Gly198Val)
c.233G>T (p.Gly78Val)
n.596G>T
n.403G>T
n.559G>T
7g.100091100T>ACA456699836COPS6c.597T>A (p.Gly199=)
c.594T>A (p.Gly198=)
c.234T>A (p.Gly78=)
n.597T>A
n.404T>A
n.560T>A
7g.100091100T>CCA456699834COPS6c.597T>C (p.Gly199=)
c.594T>C (p.Gly198=)
c.234T>C (p.Gly78=)
n.597T>C
n.404T>C
n.560T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.100091100T>GCA456699835COPS6c.597T>G (p.Gly199=)
c.594T>G (p.Gly198=)
c.234T>G (p.Gly78=)
n.597T>G
n.404T>G
n.560T>G
7g.100091100T=CA1729380771COPS6c.597T= (p.Gly199=)
c.594T= (p.Gly198=)
c.234T= (p.Gly78=)
n.597T=
n.404T=
n.560T=
7g.100091101G>ACA368433767COPS6c.598G>A (p.Val200Ile)
c.595G>A (p.Val199Ile)
c.235G>A (p.Val79Ile)
n.598G>A
n.405G>A
n.561G>A
7g.100091101G>CCA368433773COPS6c.598G>C (p.Val200Leu)
c.595G>C (p.Val199Leu)
c.235G>C (p.Val79Leu)
n.598G>C
n.405G>C
n.561G>C
7g.100091101G>TCA368433770COPS6c.598G>T (p.Val200Leu)
c.595G>T (p.Val199Leu)
c.235G>T (p.Val79Leu)
n.598G>T
n.405G>T
n.561G>T
 gnomAD v4
7g.100091102T>ACA368433776COPS6c.599T>A (p.Val200Glu)
c.596T>A (p.Val199Glu)
c.236T>A (p.Val79Glu)
n.599T>A
n.406T>A
n.562T>A
7g.100091102T>CCA368433780COPS6c.599T>C (p.Val200Ala)
c.596T>C (p.Val199Ala)
c.236T>C (p.Val79Ala)
n.599T>C
n.406T>C
n.562T>C
7g.100091102T>GCA368433778COPS6c.599T>G (p.Val200Gly)
c.596T>G (p.Val199Gly)
c.236T>G (p.Val79Gly)
n.599T>G
n.406T>G
n.562T>G
7g.100091103A=CA1729380772COPS6c.600A= (p.Val200=)
c.597A= (p.Val199=)
c.237A= (p.Val79=)
n.600A=
n.407A=
n.563A=
7g.100091103A>CCA456699837COPS6c.600A>C (p.Val200=)
c.597A>C (p.Val199=)
c.237A>C (p.Val79=)
n.600A>C
n.407A>C
n.563A>C
 dbSNP
7g.100091103A>GCA456699838COPS6c.600A>G (p.Val200=)
c.597A>G (p.Val199=)
c.237A>G (p.Val79=)
n.600A>G
n.407A>G
n.563A>G
 gnomAD v4
7g.100091103A>TCA456699839COPS6c.600A>T (p.Val200=)
c.597A>T (p.Val199=)
c.237A>T (p.Val79=)
n.600A>T
n.407A>T
n.563A>T
7g.100091104G>ACA368433784COPS6c.601G>A (p.Asp201Asn)
c.598G>A (p.Asp200Asn)
c.238G>A (p.Asp80Asn)
n.601G>A
n.408G>A
n.564G>A
7g.100091104G>CCA368433787COPS6c.601G>C (p.Asp201His)
c.598G>C (p.Asp200His)
c.238G>C (p.Asp80His)
n.601G>C
n.408G>C
n.564G>C
 COSMIC
7g.100091104G>TCA368433785COPS6c.601G>T (p.Asp201Tyr)
c.598G>T (p.Asp200Tyr)
c.238G>T (p.Asp80Tyr)
n.601G>T
n.408G>T
n.564G>T
7g.100091105A>CCA368433790COPS6c.602A>C (p.Asp201Ala)
c.599A>C (p.Asp200Ala)
c.239A>C (p.Asp80Ala)
n.602A>C
n.409A>C
n.565A>C
7g.100091105A>GCA368433796COPS6c.602A>G (p.Asp201Gly)
c.599A>G (p.Asp200Gly)
c.239A>G (p.Asp80Gly)
n.602A>G
n.409A>G
n.565A>G
7g.100091105A>TCA368433793COPS6c.602A>T (p.Asp201Val)
c.599A>T (p.Asp200Val)
c.239A>T (p.Asp80Val)
n.602A>T
n.409A>T
n.565A>T
7g.100091106C>ACA368433800COPS6c.603C>A (p.Asp201Glu)
c.600C>A (p.Asp200Glu)
c.240C>A (p.Asp80Glu)
n.603C>A
n.410C>A
n.566C>A
7g.100091106C>GCA368433802COPS6c.603C>G (p.Asp201Glu)
c.600C>G (p.Asp200Glu)
c.240C>G (p.Asp80Glu)
n.603C>G
n.410C>G
n.566C>G
7g.100091106C>TCA456699840COPS6c.603C>T (p.Asp201=)
c.600C>T (p.Asp200=)
c.240C>T (p.Asp80=)
n.603C>T
n.410C>T
n.566C>T
7g.100091107C>ACA368433804COPS6c.604C>A (p.His202Asn)
c.601C>A (p.His201Asn)
c.241C>A (p.His81Asn)
n.604C>A
n.411C>A
n.567C>A
7g.100091107C>GCA368433806COPS6c.604C>G (p.His202Asp)
c.601C>G (p.His201Asp)
c.241C>G (p.His81Asp)
n.604C>G
n.411C>G
n.567C>G
7g.100091107C>TCA368433808COPS6c.604C>T (p.His202Tyr)
c.601C>T (p.His201Tyr)
c.241C>T (p.His81Tyr)
n.604C>T
n.411C>T
n.567C>T
7g.100091108A>CCA368433813COPS6c.605A>C (p.His202Pro)
c.602A>C (p.His201Pro)
c.242A>C (p.His81Pro)
n.605A>C
n.412A>C
n.568A>C
7g.100091108A>GCA368433814COPS6c.605A>G (p.His202Arg)
c.602A>G (p.His201Arg)
c.242A>G (p.His81Arg)
n.605A>G
n.412A>G
n.568A>G
7g.100091108A>TCA368433816COPS6c.605A>T (p.His202Leu)
c.602A>T (p.His201Leu)
c.242A>T (p.His81Leu)
n.605A>T
n.412A>T
n.568A>T
7g.100091109C>ACA368433818COPS6c.606C>A (p.His202Gln)
c.603C>A (p.His201Gln)
c.243C>A (p.His81Gln)
n.606C>A
n.413C>A
n.569C>A
7g.100091109C=CA1729380773COPS6c.606C= (p.His202=)
c.603C= (p.His201=)
c.243C= (p.His81=)
n.606C=
n.413C=
n.569C=
7g.100091109C>GCA368433821COPS6c.606C>G (p.His202Gln)
c.603C>G (p.His201Gln)
c.243C>G (p.His81Gln)
n.606C>G
n.413C>G
n.569C>G
7g.100091109C>TCA4373030COPS6c.606C>T (p.His202=)
c.603C>T (p.His201=)
c.243C>T (p.His81=)
n.606C>T
n.413C>T
n.569C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.100091110G>ACA368433833COPS6c.607G>A (p.Val203Ile)
c.604G>A (p.Val202Ile)
c.244G>A (p.Val82Ile)
n.607G>A
n.414G>A
n.570G>A
 gnomAD v4
7g.100091110G>CCA368433827COPS6c.607G>C (p.Val203Leu)
c.604G>C (p.Val202Leu)
c.244G>C (p.Val82Leu)
n.607G>C
n.414G>C
n.570G>C
7g.100091110G>TCA368433829COPS6c.607G>T (p.Val203Leu)
c.604G>T (p.Val202Leu)
c.244G>T (p.Val82Leu)
n.607G>T
n.414G>T
n.570G>T
7g.100091110_100091111insGTGGCA2555723128COPS6c.607_608insGTGG (p.Val203GlyfsTer18)
c.604_605insGTGG (p.Val202GlyfsTer18)
c.244_245insGTGG (p.Val82GlyfsTer18)
n.607_608insGTGG
n.414_415insGTGG
n.570_571insGTGG
7g.100091111T>ACA368433836COPS6c.608T>A (p.Val203Glu)
c.605T>A (p.Val202Glu)
c.245T>A (p.Val82Glu)
n.608T>A
n.415T>A
n.571T>A
7g.100091111T>CCA368433839COPS6c.608T>C (p.Val203Ala)
c.605T>C (p.Val202Ala)
c.245T>C (p.Val82Ala)
n.608T>C
n.415T>C
n.571T>C
7g.100091111T>GCA368433842COPS6c.608T>G (p.Val203Gly)
c.605T>G (p.Val202Gly)
c.245T>G (p.Val82Gly)
n.608T>G
n.415T>G
n.571T>G
7g.100091112A>CCA456699841COPS6c.609A>C (p.Val203=)
c.606A>C (p.Val202=)
c.246A>C (p.Val82=)
n.609A>C
n.416A>C
n.572A>C
7g.100091112A>GCA456699842COPS6c.609A>G (p.Val203=)
c.606A>G (p.Val202=)
c.246A>G (p.Val82=)
n.609A>G
n.416A>G
n.572A>G
7g.100091112A>TCA456699843COPS6c.609A>T (p.Val203=)
c.606A>T (p.Val202=)
c.246A>T (p.Val82=)
n.609A>T
n.416A>T
n.572A>T
7g.100091113G>ACA368433844COPS6c.610G>A (p.Ala204Thr)
c.607G>A (p.Ala203Thr)
c.247G>A (p.Ala83Thr)
n.610G>A
n.417G>A
n.573G>A
7g.100091113G>CCA368433847COPS6c.610G>C (p.Ala204Pro)
c.607G>C (p.Ala203Pro)
c.247G>C (p.Ala83Pro)
n.610G>C
n.417G>C
n.573G>C
7g.100091113G>TCA368433849COPS6c.610G>T (p.Ala204Ser)
c.607G>T (p.Ala203Ser)
c.247G>T (p.Ala83Ser)
n.610G>T
n.417G>T
n.573G>T
7g.100091114C>ACA368433853COPS6c.611C>A (p.Ala204Asp)
c.608C>A (p.Ala203Asp)
c.248C>A (p.Ala83Asp)
n.611C>A
n.418C>A
n.574C>A
7g.100091114C>GCA368433855COPS6c.611C>G (p.Ala204Gly)
c.608C>G (p.Ala203Gly)
c.248C>G (p.Ala83Gly)
n.611C>G
n.418C>G
n.574C>G
7g.100091114C>TCA368433858COPS6c.611C>T (p.Ala204Val)
c.608C>T (p.Ala203Val)
c.248C>T (p.Ala83Val)
n.611C>T
n.418C>T
n.574C>T
7g.100091116delCA2553132318COPS6c.613del (p.Arg205GlufsTer2)
c.610del (p.Arg204GlufsTer2)
c.250del (p.Arg84GlufsTer2)
n.613del
n.420del
n.576del
7g.100091115C>ACA456699844COPS6c.612C>A (p.Ala204=)
c.609C>A (p.Ala203=)
c.249C>A (p.Ala83=)
n.612C>A
n.419C>A
n.575C>A
7g.100091115C=CA1729380774COPS6c.612C= (p.Ala204=)
c.609C= (p.Ala203=)
c.249C= (p.Ala83=)
n.612C=
n.419C=
n.575C=
7g.100091115C>GCA456699845COPS6c.612C>G (p.Ala204=)
c.609C>G (p.Ala203=)
c.249C>G (p.Ala83=)
n.612C>G
n.419C>G
n.575C>G
 dbSNP gnomAD v4
7g.100091115C>TCA4373031COPS6c.612C>T (p.Ala204=)
c.609C>T (p.Ala203=)
c.249C>T (p.Ala83=)
n.612C>T
n.419C>T
n.575C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.100091116C>ACA456699846COPS6c.613C>A (p.Arg205=)
c.610C>A (p.Arg204=)
c.250C>A (p.Arg84=)
n.613C>A
n.420C>A
n.576C>A
7g.100091116C>GCA368433864COPS6c.613C>G (p.Arg205Gly)
c.610C>G (p.Arg204Gly)
c.250C>G (p.Arg84Gly)
n.613C>G
n.420C>G
n.576C>G
 gnomAD v4
7g.100091116C>TCA368433862COPS6c.613C>T (p.Arg205Ter)
c.610C>T (p.Arg204Ter)
c.250C>T (p.Arg84Ter)
n.613C>T
n.420C>T
n.576C>T
7g.100091117G>ACA368433867COPS6c.614G>A (p.Arg205Gln)
c.611G>A (p.Arg204Gln)
c.251G>A (p.Arg84Gln)
n.614G>A
n.421G>A
n.577G>A
 gnomAD v4 COSMIC
7g.100091117G>CCA368433869COPS6c.614G>C (p.Arg205Pro)
c.611G>C (p.Arg204Pro)
c.251G>C (p.Arg84Pro)
n.614G>C
n.421G>C
n.577G>C
7g.100091117G>TCA368433871COPS6c.614G>T (p.Arg205Leu)
c.611G>T (p.Arg204Leu)
c.251G>T (p.Arg84Leu)
n.614G>T
n.421G>T
n.577G>T
7g.100091118A>CCA456699847COPS6c.615A>C (p.Arg205=)
c.612A>C (p.Arg204=)
c.252A>C (p.Arg84=)
n.615A>C
n.422A>C
n.578A>C
7g.100091118A>GCA456699848COPS6c.615A>G (p.Arg205=)
c.612A>G (p.Arg204=)
c.252A>G (p.Arg84=)
n.615A>G
n.422A>G
n.578A>G
7g.100091118A>TCA456699849COPS6c.615A>T (p.Arg205=)
c.612A>T (p.Arg204=)
c.252A>T (p.Arg84=)
n.615A>T
n.422A>T
n.578A>T
7g.100091119A>CCA368433874COPS6c.616A>C (p.Met206Leu)
c.613A>C (p.Met205Leu)
c.253A>C (p.Met85Leu)
n.616A>C
n.423A>C
n.579A>C
7g.100091119A>GCA368433876COPS6c.616A>G (p.Met206Val)
c.613A>G (p.Met205Val)
c.253A>G (p.Met85Val)
n.616A>G
n.423A>G
n.579A>G
 gnomAD v4
7g.100091119A>TCA368433878COPS6c.616A>T (p.Met206Leu)
c.613A>T (p.Met205Leu)
c.253A>T (p.Met85Leu)
n.616A>T
n.423A>T
n.579A>T
7g.100091120T>ACA368433880COPS6c.617T>A (p.Met206Lys)
c.614T>A (p.Met205Lys)
c.254T>A (p.Met85Lys)
n.617T>A
n.424T>A
n.580T>A
7g.100091120T>CCA368433881COPS6c.617T>C (p.Met206Thr)
c.614T>C (p.Met205Thr)
c.254T>C (p.Met85Thr)
n.617T>C
n.424T>C
n.580T>C
7g.100091120T>GCA368433883COPS6c.617T>G (p.Met206Arg)
c.614T>G (p.Met205Arg)
c.254T>G (p.Met85Arg)
n.617T>G
n.424T>G
n.580T>G
7g.100091121G>ACA368433887COPS6c.618G>A (p.Met206Ile)
c.615G>A (p.Met205Ile)
c.255G>A (p.Met85Ile)
n.618G>A
n.425G>A
n.581G>A
7g.100091121G>CCA368433889COPS6c.618G>C (p.Met206Ile)
c.615G>C (p.Met205Ile)
c.255G>C (p.Met85Ile)
n.618G>C
n.425G>C
n.581G>C
7g.100091121G>TCA368433891COPS6c.618G>T (p.Met206Ile)
c.615G>T (p.Met205Ile)
c.255G>T (p.Met85Ile)
n.618G>T
n.425G>T
n.581G>T
 COSMIC
7g.100091121_100091125delCA2544769927COPS6c.618_622del (p.Met206IlefsTer12)
c.615_619del (p.Met205IlefsTer12)
c.255_259del (p.Met85IlefsTer12)
n.618_622del
n.425_429del
n.581_585del
7g.100091122A>CCA368433900COPS6c.619A>C (p.Thr207Pro)
c.616A>C (p.Thr206Pro)
c.256A>C (p.Thr86Pro)
n.619A>C
n.426A>C
n.582A>C
7g.100091122A>GCA368433897COPS6c.619A>G (p.Thr207Ala)
c.616A>G (p.Thr206Ala)
c.256A>G (p.Thr86Ala)
n.619A>G
n.426A>G
n.582A>G
7g.100091122A>TCA368433894COPS6c.619A>T (p.Thr207Ser)
c.616A>T (p.Thr206Ser)
c.256A>T (p.Thr86Ser)
n.619A>T
n.426A>T
n.582A>T
7g.100091123C>ACA368433902COPS6c.620C>A (p.Thr207Lys)
c.617C>A (p.Thr206Lys)
c.257C>A (p.Thr86Lys)
n.620C>A
n.427C>A
n.583C>A
7g.100091123C>GCA368433905COPS6c.620C>G (p.Thr207Arg)
c.617C>G (p.Thr206Arg)
c.257C>G (p.Thr86Arg)
n.620C>G
n.427C>G
n.583C>G
7g.100091123C>TCA368433908COPS6c.620C>T (p.Thr207Ile)
c.617C>T (p.Thr206Ile)
c.257C>T (p.Thr86Ile)
n.620C>T
n.427C>T
n.583C>T
 dbSNP
7g.100091124A>CCA456881218COPS6c.621A>C (p.Thr207=)
c.618A>C (p.Thr206=)
c.258A>C (p.Thr86=)
n.621A>C
n.428A>C
n.584A>C
7g.100091124A>GCA456881219COPS6c.621A>G (p.Thr207=)
c.618A>G (p.Thr206=)
c.258A>G (p.Thr86=)
n.621A>G
n.428A>G
n.584A>G
7g.100091124A>TCA456881220COPS6c.621A>T (p.Thr207=)
c.618A>T (p.Thr206=)
c.258A>T (p.Thr86=)
n.621A>T
n.428A>T
n.584A>T
7g.100091125G>ACA368433910COPS6c.622G>A (p.Ala208Thr)
c.619G>A (p.Ala207Thr)
c.259G>A (p.Ala87Thr)
n.622G>A
n.429G>A
n.585G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.100091125G>CCA368433913COPS6c.622G>C (p.Ala208Pro)
c.619G>C (p.Ala207Pro)
c.259G>C (p.Ala87Pro)
n.622G>C
n.429G>C
n.585G>C
7g.100091125G=CA1729380775COPS6c.622G= (p.Ala208=)
c.619G= (p.Ala207=)
c.259G= (p.Ala87=)
n.622G=
n.429G=
n.585G=
7g.100091125G>TCA368433916COPS6c.622G>T (p.Ala208Ser)
c.619G>T (p.Ala207Ser)
c.259G>T (p.Ala87Ser)
n.622G>T
n.429G>T
n.585G>T
7g.100091126C>ACA368433917COPS6c.623C>A (p.Ala208Glu)
c.620C>A (p.Ala207Glu)
c.260C>A (p.Ala87Glu)
n.623C>A
n.430C>A
n.586C>A
7g.100091126C>GCA368433920COPS6c.623C>G (p.Ala208Gly)
c.620C>G (p.Ala207Gly)
c.260C>G (p.Ala87Gly)
n.623C>G
n.430C>G
n.586C>G
7g.100091126C>TCA368433923COPS6c.623C>T (p.Ala208Val)
c.620C>T (p.Ala207Val)
c.260C>T (p.Ala87Val)
n.623C>T
n.430C>T
n.586C>T
7g.100091127A>CCA456881221COPS6c.624A>C (p.Ala208=)
c.621A>C (p.Ala207=)
c.261A>C (p.Ala87=)
n.624A>C
n.431A>C
n.587A>C
7g.100091127A>GCA456881223COPS6c.624A>G (p.Ala208=)
c.621A>G (p.Ala207=)
c.261A>G (p.Ala87=)
n.624A>G
n.431A>G
n.587A>G
7g.100091127A>TCA456881222COPS6c.624A>T (p.Ala208=)
c.621A>T (p.Ala207=)
c.261A>T (p.Ala87=)
n.624A>T
n.431A>T
n.587A>T
7g.100091127_100091128insTTAAACA2570747032COPS6c.624_625insTTAAA (p.Thr209LeufsTer15)
c.621_622insTTAAA (p.Thr208LeufsTer15)
c.261_262insTTAAA (p.Thr88LeufsTer15)
n.624_625insTTAAA
n.431_432insTTAAA
n.587_588insTTAAA
7g.100091128A>CCA368433926COPS6c.625A>C (p.Thr209Pro)
c.622A>C (p.Thr208Pro)
c.262A>C (p.Thr88Pro)
n.625A>C
n.432A>C
n.588A>C
7g.100091128A>GCA368433928COPS6c.625A>G (p.Thr209Ala)
c.622A>G (p.Thr208Ala)
c.262A>G (p.Thr88Ala)
n.625A>G
n.432A>G
n.588A>G
7g.100091128A>TCA368433931COPS6c.625A>T (p.Thr209Ser)
c.622A>T (p.Thr208Ser)
c.262A>T (p.Thr88Ser)
n.625A>T
n.432A>T
n.588A>T
7g.100091129C>ACA368433939COPS6c.626C>A (p.Thr209Lys)
c.623C>A (p.Thr208Lys)
c.263C>A (p.Thr88Lys)
n.626C>A
n.433C>A
n.589C>A
7g.100091129C=CA1729380776COPS6c.626C= (p.Thr209=)
c.623C= (p.Thr208=)
c.263C= (p.Thr88=)
n.626C=
n.433C=
n.589C=
7g.100091129C>GCA368433937COPS6c.626C>G (p.Thr209Arg)
c.623C>G (p.Thr208Arg)
c.263C>G (p.Thr88Arg)
n.626C>G
n.433C>G
n.589C>G
7g.100091129C>TCA368433934COPS6c.626C>T (p.Thr209Ile)
c.623C>T (p.Thr208Ile)
c.263C>T (p.Thr88Ile)
n.626C>T
n.433C>T
n.589C>T
 dbSNP gnomAD v2 gnomAD v4
7g.100091130A>CCA456881224COPS6c.627A>C (p.Thr209=)
c.624A>C (p.Thr208=)
c.264A>C (p.Thr88=)
n.627A>C
n.434A>C
n.590A>C
7g.100091130A>GCA456881225COPS6c.627A>G (p.Thr209=)
c.624A>G (p.Thr208=)
c.264A>G (p.Thr88=)
n.627A>G
n.434A>G
n.590A>G
7g.100091130A>TCA456881226COPS6c.627A>T (p.Thr209=)
c.624A>T (p.Thr208=)
c.264A>T (p.Thr88=)
n.627A>T
n.434A>T
n.590A>T
7g.100091130_100091131delinsAGCA1729380777COPS6c.627_628delinsAG (p.Thr209=)
c.624_625delinsAG (p.Thr208=)
c.264_265delinsAG (p.Thr88=)
n.627_628delinsAG
n.434_435delinsAG
n.590_591delinsAG
7g.100091131G>ACA368433940COPS6c.628G>A (p.Gly210Ser)
c.625G>A (p.Gly209Ser)
c.265G>A (p.Gly89Ser)
n.628G>A
n.435G>A
n.591G>A
7g.100091131G>CCA368433943COPS6c.628G>C (p.Gly210Arg)
c.625G>C (p.Gly209Arg)
c.265G>C (p.Gly89Arg)
n.628G>C
n.435G>C
n.591G>C
7g.100091131G>TCA368433947COPS6c.628G>T (p.Gly210Cys)
c.625G>T (p.Gly209Cys)
c.265G>T (p.Gly89Cys)
n.628G>T
n.435G>T
n.591G>T
7g.100091132delCA1729380779COPS6c.629del (p.Gly210AlafsTer12)
c.626del (p.Gly209AlafsTer12)
c.266del (p.Gly89AlafsTer12)
n.629del
n.436del
n.592del
 dbSNP
7g.100091131_100091133delCA2511618328COPS6c.628_630del (p.Gly210del)
c.625_627del (p.Gly209del)
c.265_267del (p.Gly89del)
n.628_630del
n.435_437del
n.591_593del
7g.100091132G>ACA368433949COPS6c.629G>A (p.Gly210Asp)
c.626G>A (p.Gly209Asp)
c.266G>A (p.Gly89Asp)
n.629G>A
n.436G>A
n.592G>A
7g.100091132G>CCA368433951COPS6c.629G>C (p.Gly210Ala)
c.626G>C (p.Gly209Ala)
c.266G>C (p.Gly89Ala)
n.629G>C
n.436G>C
n.592G>C
7g.100091132G>TCA368433953COPS6c.629G>T (p.Gly210Val)
c.626G>T (p.Gly209Val)
c.266G>T (p.Gly89Val)
n.629G>T
n.436G>T
n.592G>T
7g.100091133C>ACA456881227COPS6c.630C>A (p.Gly210=)
c.627C>A (p.Gly209=)
c.267C>A (p.Gly89=)
n.630C>A
n.437C>A
n.593C>A
7g.100091133C>GCA456881228COPS6c.630C>G (p.Gly210=)
c.627C>G (p.Gly209=)
c.267C>G (p.Gly89=)
n.630C>G
n.437C>G
n.593C>G
7g.100091133C>TCA456881229COPS6c.630C>T (p.Gly210=)
c.627C>T (p.Gly209=)
c.267C>T (p.Gly89=)
n.630C>T
n.437C>T
n.593C>T
7g.100091134A=CA1729380783COPS6c.631A= (p.Ser211=)
c.628A= (p.Ser210=)
c.268A= (p.Ser90=)
n.631A=
n.438A=
n.594A=
7g.100091134A>CCA174533COPS6c.631A>C (p.Ser211Arg)
c.628A>C (p.Ser210Arg)
c.268A>C (p.Ser90Arg)
n.631A>C
n.438A>C
n.594A>C
 ClinVar dbSNP COSMIC
7g.100091134A>GCA368433957COPS6c.631A>G (p.Ser211Gly)
c.628A>G (p.Ser210Gly)
c.268A>G (p.Ser90Gly)
n.631A>G
n.438A>G
n.594A>G
 dbSNP gnomAD v2 gnomAD v4
7g.100091134A>TCA4373032COPS6c.631A>T (p.Ser211Cys)
c.628A>T (p.Ser210Cys)
c.268A>T (p.Ser90Cys)
n.631A>T
n.438A>T
n.594A>T
 dbSNP ExAC

Number of alleles fetched