Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.27926099C>ACA7438771OCA2c.2079+28G>T (n.2079+28G>T)
c.2007+28G>T (n.2007+28G>T)
c.2103+28G>T (n.2103+28G>T)
c.2031+28G>T (n.2031+28G>T)
c.1965+28G>T (n.1965+28G>T)
c.1908+28G>T (n.1908+28G>T)
dbSNP ExAC gnomAD v2
15g.27926099C=CA2166365034OCA2c.2079+28G= (n.2079+28G=)
c.2007+28G= (n.2007+28G=)
c.2103+28G= (n.2103+28G=)
c.2031+28G= (n.2031+28G=)
c.1965+28G= (n.1965+28G=)
c.1908+28G= (n.1908+28G=)
15g.27926099C>TCA2627379617OCA2c.2079+28G>A (n.2079+28G>A)
c.2007+28G>A (n.2007+28G>A)
c.2103+28G>A (n.2103+28G>A)
c.2031+28G>A (n.2031+28G>A)
c.1965+28G>A (n.1965+28G>A)
c.1908+28G>A (n.1908+28G>A)
gnomAD v4
15g.27926101A>GCA2571258396OCA2c.2079+26T>C (n.2079+26T>C)
c.2007+26T>C (n.2007+26T>C)
c.2103+26T>C (n.2103+26T>C)
c.2031+26T>C (n.2031+26T>C)
c.1965+26T>C (n.1965+26T>C)
c.1908+26T>C (n.1908+26T>C)
gnomAD v4
15g.27926102T>CCA2627379618OCA2c.2079+25A>G (n.2079+25A>G)
c.2007+25A>G (n.2007+25A>G)
c.2103+25A>G (n.2103+25A>G)
c.2031+25A>G (n.2031+25A>G)
c.1965+25A>G (n.1965+25A>G)
c.1908+25A>G (n.1908+25A>G)
gnomAD v4
15g.27926104T>ACA7438772OCA2c.2079+23A>T (n.2079+23A>T)
c.2007+23A>T (n.2007+23A>T)
c.2103+23A>T (n.2103+23A>T)
c.2031+23A>T (n.2031+23A>T)
c.1965+23A>T (n.1965+23A>T)
c.1908+23A>T (n.1908+23A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926104T>CCA7438773OCA2c.2079+23A>G (n.2079+23A>G)
c.2007+23A>G (n.2007+23A>G)
c.2103+23A>G (n.2103+23A>G)
c.2031+23A>G (n.2031+23A>G)
c.1965+23A>G (n.1965+23A>G)
c.1908+23A>G (n.1908+23A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926104T>GCA711677730OCA2c.2079+23A>C (n.2079+23A>C)
c.2007+23A>C (n.2007+23A>C)
c.2103+23A>C (n.2103+23A>C)
c.2031+23A>C (n.2031+23A>C)
c.1965+23A>C (n.1965+23A>C)
c.1908+23A>C (n.1908+23A>C)
dbSNP
15g.27926104T=CA2166365035OCA2c.2079+23A= (n.2079+23A=)
c.2007+23A= (n.2007+23A=)
c.2103+23A= (n.2103+23A=)
c.2031+23A= (n.2031+23A=)
c.1965+23A= (n.1965+23A=)
c.1908+23A= (n.1908+23A=)
15g.27926105G>ACA2627379619OCA2c.2079+22C>T (n.2079+22C>T)
c.2007+22C>T (n.2007+22C>T)
c.2103+22C>T (n.2103+22C>T)
c.2031+22C>T (n.2031+22C>T)
c.1965+22C>T (n.1965+22C>T)
c.1908+22C>T (n.1908+22C>T)
gnomAD v4
15g.27926105G>TCA2627379620OCA2c.2079+22C>A (n.2079+22C>A)
c.2007+22C>A (n.2007+22C>A)
c.2103+22C>A (n.2103+22C>A)
c.2031+22C>A (n.2031+22C>A)
c.1965+22C>A (n.1965+22C>A)
c.1908+22C>A (n.1908+22C>A)
gnomAD v4
15g.27926106G>ACA616704961OCA2c.2079+21C>T (n.2079+21C>T)
c.2007+21C>T (n.2007+21C>T)
c.2103+21C>T (n.2103+21C>T)
c.2031+21C>T (n.2031+21C>T)
c.1965+21C>T (n.1965+21C>T)
c.1908+21C>T (n.1908+21C>T)
dbSNP gnomAD v2 gnomAD v4
15g.27926106G=CA2166365036OCA2c.2079+21C= (n.2079+21C=)
c.2007+21C= (n.2007+21C=)
c.2103+21C= (n.2103+21C=)
c.2031+21C= (n.2031+21C=)
c.1965+21C= (n.1965+21C=)
c.1908+21C= (n.1908+21C=)
15g.27926107C=CA2166365037OCA2c.2079+20G= (n.2079+20G=)
c.2007+20G= (n.2007+20G=)
c.2103+20G= (n.2103+20G=)
c.2031+20G= (n.2031+20G=)
c.1965+20G= (n.1965+20G=)
c.1908+20G= (n.1908+20G=)
15g.27926107C>TCA616704962OCA2c.2079+20G>A (n.2079+20G>A)
c.2007+20G>A (n.2007+20G>A)
c.2103+20G>A (n.2103+20G>A)
c.2031+20G>A (n.2031+20G>A)
c.1965+20G>A (n.1965+20G>A)
c.1908+20G>A (n.1908+20G>A)
dbSNP gnomAD v2
15g.27926108A=CA2166365038OCA2c.2079+19T= (n.2079+19T=)
c.2007+19T= (n.2007+19T=)
c.2103+19T= (n.2103+19T=)
c.2031+19T= (n.2031+19T=)
c.1965+19T= (n.1965+19T=)
c.1908+19T= (n.1908+19T=)
15g.27926108A>GCA2166365039OCA2c.2079+19T>C (n.2079+19T>C)
c.2007+19T>C (n.2007+19T>C)
c.2103+19T>C (n.2103+19T>C)
c.2031+19T>C (n.2031+19T>C)
c.1965+19T>C (n.1965+19T>C)
c.1908+19T>C (n.1908+19T>C)
dbSNP
15g.27926109A=CA2166365040OCA2c.2079+18T= (n.2079+18T=)
c.2007+18T= (n.2007+18T=)
c.2103+18T= (n.2103+18T=)
c.2031+18T= (n.2031+18T=)
c.1965+18T= (n.1965+18T=)
c.1908+18T= (n.1908+18T=)
15g.27926109A>GCA7438774OCA2c.2079+18T>C (n.2079+18T>C)
c.2007+18T>C (n.2007+18T>C)
c.2103+18T>C (n.2103+18T>C)
c.2031+18T>C (n.2031+18T>C)
c.1965+18T>C (n.1965+18T>C)
c.1908+18T>C (n.1908+18T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926112delCA2575652943OCA2c.2079+15del (n.2079+15del)
c.2007+15del (n.2007+15del)
c.2103+15del (n.2103+15del)
c.2031+15del (n.2031+15del)
c.1965+15del (n.1965+15del)
c.1908+15del (n.1908+15del)
gnomAD v4
15g.27926112G>ACA2627379621OCA2c.2079+15C>T (n.2079+15C>T)
c.2007+15C>T (n.2007+15C>T)
c.2103+15C>T (n.2103+15C>T)
c.2031+15C>T (n.2031+15C>T)
c.1965+15C>T (n.1965+15C>T)
c.1908+15C>T (n.1908+15C>T)
gnomAD v4
15g.27926112G>CCA616704963OCA2c.2079+15C>G (n.2079+15C>G)
c.2007+15C>G (n.2007+15C>G)
c.2103+15C>G (n.2103+15C>G)
c.2031+15C>G (n.2031+15C>G)
c.1965+15C>G (n.1965+15C>G)
c.1908+15C>G (n.1908+15C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27926112G=CA2166365041OCA2c.2079+15C= (n.2079+15C=)
c.2007+15C= (n.2007+15C=)
c.2103+15C= (n.2103+15C=)
c.2031+15C= (n.2031+15C=)
c.1965+15C= (n.1965+15C=)
c.1908+15C= (n.1908+15C=)
15g.27926112G>TCA2166365042OCA2c.2079+15C>A (n.2079+15C>A)
c.2007+15C>A (n.2007+15C>A)
c.2103+15C>A (n.2103+15C>A)
c.2031+15C>A (n.2031+15C>A)
c.1965+15C>A (n.1965+15C>A)
c.1908+15C>A (n.1908+15C>A)
dbSNP
15g.27926115C>TCA2627379622OCA2c.2079+12G>A (n.2079+12G>A)
c.2007+12G>A (n.2007+12G>A)
c.2103+12G>A (n.2103+12G>A)
c.2031+12G>A (n.2031+12G>A)
c.1965+12G>A (n.1965+12G>A)
c.1908+12G>A (n.1908+12G>A)
ClinVar gnomAD v4
15g.27926116T>CCA968017976OCA2c.2079+11A>G (n.2079+11A>G)
c.2007+11A>G (n.2007+11A>G)
c.2103+11A>G (n.2103+11A>G)
c.2031+11A>G (n.2031+11A>G)
c.1965+11A>G (n.1965+11A>G)
c.1908+11A>G (n.1908+11A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27926116T=CA2166365043OCA2c.2079+11A= (n.2079+11A=)
c.2007+11A= (n.2007+11A=)
c.2103+11A= (n.2103+11A=)
c.2031+11A= (n.2031+11A=)
c.1965+11A= (n.1965+11A=)
c.1908+11A= (n.1908+11A=)
15g.27926118A>CCA2627379623OCA2c.2079+9T>G (n.2079+9T>G)
c.2007+9T>G (n.2007+9T>G)
c.2103+9T>G (n.2103+9T>G)
c.2031+9T>G (n.2031+9T>G)
c.1965+9T>G (n.1965+9T>G)
c.1908+9T>G (n.1908+9T>G)
gnomAD v4
15g.27926120A>GCA2739278385OCA2c.2079+7T>C (n.2079+7T>C)
c.2007+7T>C (n.2007+7T>C)
c.2103+7T>C (n.2103+7T>C)
c.2031+7T>C (n.2031+7T>C)
c.1965+7T>C (n.1965+7T>C)
c.1908+7T>C (n.1908+7T>C)
ClinVar
15g.27926122C>ACA616704964OCA2c.2079+5G>T (n.2079+5G>T)
c.2007+5G>T (n.2007+5G>T)
c.2103+5G>T (n.2103+5G>T)
c.2031+5G>T (n.2031+5G>T)
c.1965+5G>T (n.1965+5G>T)
c.1908+5G>T (n.1908+5G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27926122C=CA2166365044OCA2c.2079+5G= (n.2079+5G=)
c.2007+5G= (n.2007+5G=)
c.2103+5G= (n.2103+5G=)
c.2031+5G= (n.2031+5G=)
c.1965+5G= (n.1965+5G=)
c.1908+5G= (n.1908+5G=)
15g.27926122C>TCA7438775OCA2c.2079+5G>A (n.2079+5G>A)
c.2007+5G>A (n.2007+5G>A)
c.2103+5G>A (n.2103+5G>A)
c.2031+5G>A (n.2031+5G>A)
c.1965+5G>A (n.1965+5G>A)
c.1908+5G>A (n.1908+5G>A)
dbSNP ExAC gnomAD v2
15g.27926123T>ACA2695219756OCA2c.2079+4A>T (n.2079+4A>T)
c.2007+4A>T (n.2007+4A>T)
c.2103+4A>T (n.2103+4A>T)
c.2031+4A>T (n.2031+4A>T)
c.1965+4A>T (n.1965+4A>T)
c.1908+4A>T (n.1908+4A>T)
15g.27926123T>GCA2573150603OCA2c.2079+4A>C (n.2079+4A>C)
c.2007+4A>C (n.2007+4A>C)
c.2103+4A>C (n.2103+4A>C)
c.2031+4A>C (n.2031+4A>C)
c.1965+4A>C (n.1965+4A>C)
c.1908+4A>C (n.1908+4A>C)
ClinVar dbSNP gnomAD v4
15g.27926124T>CCA2573150604OCA2c.2079+3A>G (n.2079+3A>G)
c.2007+3A>G (n.2007+3A>G)
c.2103+3A>G (n.2103+3A>G)
c.2031+3A>G (n.2031+3A>G)
c.1965+3A>G (n.1965+3A>G)
c.1908+3A>G (n.1908+3A>G)
ClinVar dbSNP
15g.27926125A>CCA391360804OCA2c.2079+2T>G (n.2079+2T>G)
c.2007+2T>G (n.2007+2T>G)
c.2103+2T>G (n.2103+2T>G)
c.2031+2T>G (n.2031+2T>G)
c.1965+2T>G (n.1965+2T>G)
c.1908+2T>G (n.1908+2T>G)
15g.27926125A>GCA391360800OCA2c.2079+2T>C (n.2079+2T>C)
c.2007+2T>C (n.2007+2T>C)
c.2103+2T>C (n.2103+2T>C)
c.2031+2T>C (n.2031+2T>C)
c.1965+2T>C (n.1965+2T>C)
c.1908+2T>C (n.1908+2T>C)
15g.27926125A>TCA391360802OCA2c.2079+2T>A (n.2079+2T>A)
c.2007+2T>A (n.2007+2T>A)
c.2103+2T>A (n.2103+2T>A)
c.2031+2T>A (n.2031+2T>A)
c.1965+2T>A (n.1965+2T>A)
c.1908+2T>A (n.1908+2T>A)
15g.27926126C>ACA391360807OCA2c.2079+1G>T (n.2079+1G>T)
c.2007+1G>T (n.2007+1G>T)
c.2103+1G>T (n.2103+1G>T)
c.2031+1G>T (n.2031+1G>T)
c.1965+1G>T (n.1965+1G>T)
c.1908+1G>T (n.1908+1G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27926126C=CA2166365045OCA2c.2079+1G= (n.2079+1G=)
c.2007+1G= (n.2007+1G=)
c.2103+1G= (n.2103+1G=)
c.2031+1G= (n.2031+1G=)
c.1965+1G= (n.1965+1G=)
c.1908+1G= (n.1908+1G=)
15g.27926126C>GCA391360809OCA2c.2079+1G>C (n.2079+1G>C)
c.2007+1G>C (n.2007+1G>C)
c.2103+1G>C (n.2103+1G>C)
c.2031+1G>C (n.2031+1G>C)
c.1965+1G>C (n.1965+1G>C)
c.1908+1G>C (n.1908+1G>C)
15g.27926126C>TCA391360811OCA2c.2079+1G>A (n.2079+1G>A)
c.2007+1G>A (n.2007+1G>A)
c.2103+1G>A (n.2103+1G>A)
c.2031+1G>A (n.2031+1G>A)
c.1965+1G>A (n.1965+1G>A)
c.1908+1G>A (n.1908+1G>A)
ClinVar
15g.27926127C>ACA391360813OCA2c.2079G>T (p.Glu693Asp)
c.2007G>T (p.Glu669Asp)
c.2103G>T (p.Glu701Asp)
c.2031G>T (p.Glu677Asp)
c.1965G>T (p.Glu655Asp)
c.1908G>T (p.Glu636Asp)
15g.27926127C=CA2166365046OCA2c.2079G= (p.Glu693=)
c.2007G= (p.Glu669=)
c.2103G= (p.Glu701=)
c.2031G= (p.Glu677=)
c.1965G= (p.Glu655=)
c.1908G= (p.Glu636=)
15g.27926127C>GCA391360815OCA2c.2079G>C (p.Glu693Asp)
c.2007G>C (p.Glu669Asp)
c.2103G>C (p.Glu701Asp)
c.2031G>C (p.Glu677Asp)
c.1965G>C (p.Glu655Asp)
c.1908G>C (p.Glu636Asp)
15g.27926127C>TCA488959248OCA2c.2079G>A (p.Glu693=)
c.2007G>A (p.Glu669=)
c.2103G>A (p.Glu701=)
c.2031G>A (p.Glu677=)
c.1965G>A (p.Glu655=)
c.1908G>A (p.Glu636=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27926128T>ACA391360816OCA2c.2078A>T (p.Glu693Val)
c.2006A>T (p.Glu669Val)
c.2102A>T (p.Glu701Val)
c.2030A>T (p.Glu677Val)
c.1964A>T (p.Glu655Val)
c.1907A>T (p.Glu636Val)
dbSNP gnomAD v4 COSMIC
15g.27926128T>CCA391360817OCA2c.2078A>G (p.Glu693Gly)
c.2006A>G (p.Glu669Gly)
c.2102A>G (p.Glu701Gly)
c.2030A>G (p.Glu677Gly)
c.1964A>G (p.Glu655Gly)
c.1907A>G (p.Glu636Gly)
15g.27926128T>GCA391360818OCA2c.2078A>C (p.Glu693Ala)
c.2006A>C (p.Glu669Ala)
c.2102A>C (p.Glu701Ala)
c.2030A>C (p.Glu677Ala)
c.1964A>C (p.Glu655Ala)
c.1907A>C (p.Glu636Ala)
15g.27926128T=CA2166365047OCA2c.2078A= (p.Glu693=)
c.2006A= (p.Glu669=)
c.2102A= (p.Glu701=)
c.2030A= (p.Glu677=)
c.1964A= (p.Glu655=)
c.1907A= (p.Glu636=)
15g.27926129C>ACA391360822OCA2c.2077G>T (p.Glu693Ter)
c.2005G>T (p.Glu669Ter)
c.2101G>T (p.Glu701Ter)
c.2029G>T (p.Glu677Ter)
c.1963G>T (p.Glu655Ter)
c.1906G>T (p.Glu636Ter)
15g.27926129C>GCA391360824OCA2c.2077G>C (p.Glu693Gln)
c.2005G>C (p.Glu669Gln)
c.2101G>C (p.Glu701Gln)
c.2029G>C (p.Glu677Gln)
c.1963G>C (p.Glu655Gln)
c.1906G>C (p.Glu636Gln)
15g.27926129C>TCA391360825OCA2c.2077G>A (p.Glu693Lys)
c.2005G>A (p.Glu669Lys)
c.2101G>A (p.Glu701Lys)
c.2029G>A (p.Glu677Lys)
c.1963G>A (p.Glu655Lys)
c.1906G>A (p.Glu636Lys)
15g.27926130C>ACA391360830OCA2c.2076G>T (p.Met692Ile)
c.2004G>T (p.Met668Ile)
c.2100G>T (p.Met700Ile)
c.2028G>T (p.Met676Ile)
c.1962G>T (p.Met654Ile)
c.1905G>T (p.Met635Ile)
15g.27926130C=CA2166365048OCA2c.2076G= (p.Met692=)
c.2004G= (p.Met668=)
c.2100G= (p.Met700=)
c.2028G= (p.Met676=)
c.1962G= (p.Met654=)
c.1905G= (p.Met635=)
15g.27926130C>GCA391360827OCA2c.2076G>C (p.Met692Ile)
c.2004G>C (p.Met668Ile)
c.2100G>C (p.Met700Ile)
c.2028G>C (p.Met676Ile)
c.1962G>C (p.Met654Ile)
c.1905G>C (p.Met635Ile)
15g.27926130C>TCA391360826OCA2c.2076G>A (p.Met692Ile)
c.2004G>A (p.Met668Ile)
c.2100G>A (p.Met700Ile)
c.2028G>A (p.Met676Ile)
c.1962G>A (p.Met654Ile)
c.1905G>A (p.Met635Ile)
dbSNP gnomAD v2 gnomAD v4
15g.27926131A>CCA391360835OCA2c.2075T>G (p.Met692Arg)
c.2003T>G (p.Met668Arg)
c.2099T>G (p.Met700Arg)
c.2027T>G (p.Met676Arg)
c.1961T>G (p.Met654Arg)
c.1904T>G (p.Met635Arg)
15g.27926131A>GCA391360843OCA2c.2075T>C (p.Met692Thr)
c.2003T>C (p.Met668Thr)
c.2099T>C (p.Met700Thr)
c.2027T>C (p.Met676Thr)
c.1961T>C (p.Met654Thr)
c.1904T>C (p.Met635Thr)
15g.27926131A>TCA391360845OCA2c.2075T>A (p.Met692Lys)
c.2003T>A (p.Met668Lys)
c.2099T>A (p.Met700Lys)
c.2027T>A (p.Met676Lys)
c.1961T>A (p.Met654Lys)
c.1904T>A (p.Met635Lys)
15g.27926132T>ACA391360849OCA2c.2074A>T (p.Met692Leu)
c.2002A>T (p.Met668Leu)
c.2098A>T (p.Met700Leu)
c.2026A>T (p.Met676Leu)
c.1960A>T (p.Met654Leu)
c.1903A>T (p.Met635Leu)
dbSNP gnomAD v3 gnomAD v4
15g.27926132T>CCA391360851OCA2c.2074A>G (p.Met692Val)
c.2002A>G (p.Met668Val)
c.2098A>G (p.Met700Val)
c.2026A>G (p.Met676Val)
c.1960A>G (p.Met654Val)
c.1903A>G (p.Met635Val)
dbSNP
15g.27926132T>GCA391360852OCA2c.2074A>C (p.Met692Leu)
c.2002A>C (p.Met668Leu)
c.2098A>C (p.Met700Leu)
c.2026A>C (p.Met676Leu)
c.1960A>C (p.Met654Leu)
c.1903A>C (p.Met635Leu)
15g.27926132T=CA2166365049OCA2c.2074A= (p.Met692=)
c.2002A= (p.Met668=)
c.2098A= (p.Met700=)
c.2026A= (p.Met676=)
c.1960A= (p.Met654=)
c.1903A= (p.Met635=)
15g.27926133C>ACA488959249OCA2c.2073G>T (p.Leu691=)
c.2001G>T (p.Leu667=)
c.2097G>T (p.Leu699=)
c.2025G>T (p.Leu675=)
c.1959G>T (p.Leu653=)
c.1902G>T (p.Leu634=)
15g.27926133C=CA2166365050OCA2c.2073G= (p.Leu691=)
c.2001G= (p.Leu667=)
c.2097G= (p.Leu699=)
c.2025G= (p.Leu675=)
c.1959G= (p.Leu653=)
c.1902G= (p.Leu634=)
15g.27926133C>GCA488959250OCA2c.2073G>C (p.Leu691=)
c.2001G>C (p.Leu667=)
c.2097G>C (p.Leu699=)
c.2025G>C (p.Leu675=)
c.1959G>C (p.Leu653=)
c.1902G>C (p.Leu634=)
15g.27926133C>TCA7438776OCA2c.2073G>A (p.Leu691=)
c.2001G>A (p.Leu667=)
c.2097G>A (p.Leu699=)
c.2025G>A (p.Leu675=)
c.1959G>A (p.Leu653=)
c.1902G>A (p.Leu634=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926134A>CCA391360856OCA2c.2072T>G (p.Leu691Arg)
c.2000T>G (p.Leu667Arg)
c.2096T>G (p.Leu699Arg)
c.2024T>G (p.Leu675Arg)
c.1958T>G (p.Leu653Arg)
c.1901T>G (p.Leu634Arg)
15g.27926134A>GCA391360859OCA2c.2072T>C (p.Leu691Pro)
c.2000T>C (p.Leu667Pro)
c.2096T>C (p.Leu699Pro)
c.2024T>C (p.Leu675Pro)
c.1958T>C (p.Leu653Pro)
c.1901T>C (p.Leu634Pro)
15g.27926134A>TCA391360861OCA2c.2072T>A (p.Leu691Gln)
c.2000T>A (p.Leu667Gln)
c.2096T>A (p.Leu699Gln)
c.2024T>A (p.Leu675Gln)
c.1958T>A (p.Leu653Gln)
c.1901T>A (p.Leu634Gln)
15g.27926135G>ACA7438777OCA2c.2071C>T (p.Leu691=)
c.1999C>T (p.Leu667=)
c.2095C>T (p.Leu699=)
c.2023C>T (p.Leu675=)
c.1957C>T (p.Leu653=)
c.1900C>T (p.Leu634=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926135G>CCA391360867OCA2c.2071C>G (p.Leu691Val)
c.1999C>G (p.Leu667Val)
c.2095C>G (p.Leu699Val)
c.2023C>G (p.Leu675Val)
c.1957C>G (p.Leu653Val)
c.1900C>G (p.Leu634Val)
15g.27926135G=CA2166365051OCA2c.2071C= (p.Leu691=)
c.1999C= (p.Leu667=)
c.2095C= (p.Leu699=)
c.2023C= (p.Leu675=)
c.1957C= (p.Leu653=)
c.1900C= (p.Leu634=)
15g.27926135G>TCA391360869OCA2c.2071C>A (p.Leu691Met)
c.1999C>A (p.Leu667Met)
c.2095C>A (p.Leu699Met)
c.2023C>A (p.Leu675Met)
c.1957C>A (p.Leu653Met)
c.1900C>A (p.Leu634Met)
15g.27926136A>CCA488959251OCA2c.2070T>G (p.Val690=)
c.1998T>G (p.Val666=)
c.2094T>G (p.Val698=)
c.2022T>G (p.Val674=)
c.1956T>G (p.Val652=)
c.1899T>G (p.Val633=)
15g.27926136A>GCA488959253OCA2c.2070T>C (p.Val690=)
c.1998T>C (p.Val666=)
c.2094T>C (p.Val698=)
c.2022T>C (p.Val674=)
c.1956T>C (p.Val652=)
c.1899T>C (p.Val633=)
15g.27926136A>TCA488959252OCA2c.2070T>A (p.Val690=)
c.1998T>A (p.Val666=)
c.2094T>A (p.Val698=)
c.2022T>A (p.Val674=)
c.1956T>A (p.Val652=)
c.1899T>A (p.Val633=)
15g.27926137A=CA2166365052OCA2c.2069T= (p.Val690=)
c.1997T= (p.Val666=)
c.2093T= (p.Val698=)
c.2021T= (p.Val674=)
c.1955T= (p.Val652=)
c.1898T= (p.Val633=)
15g.27926137A>CCA391360879OCA2c.2069T>G (p.Val690Gly)
c.1997T>G (p.Val666Gly)
c.2093T>G (p.Val698Gly)
c.2021T>G (p.Val674Gly)
c.1955T>G (p.Val652Gly)
c.1898T>G (p.Val633Gly)
15g.27926137A>GCA391360876OCA2c.2069T>C (p.Val690Ala)
c.1997T>C (p.Val666Ala)
c.2093T>C (p.Val698Ala)
c.2021T>C (p.Val674Ala)
c.1955T>C (p.Val652Ala)
c.1898T>C (p.Val633Ala)
ClinVar dbSNP gnomAD v4
15g.27926137A>TCA391360873OCA2c.2069T>A (p.Val690Asp)
c.1997T>A (p.Val666Asp)
c.2093T>A (p.Val698Asp)
c.2021T>A (p.Val674Asp)
c.1955T>A (p.Val652Asp)
c.1898T>A (p.Val633Asp)
15g.27926138C>ACA391360888OCA2c.2068G>T (p.Val690Phe)
c.1996G>T (p.Val666Phe)
c.2092G>T (p.Val698Phe)
c.2020G>T (p.Val674Phe)
c.1954G>T (p.Val652Phe)
c.1897G>T (p.Val633Phe)
dbSNP
15g.27926138C=CA2166365053OCA2c.2068G= (p.Val690=)
c.1996G= (p.Val666=)
c.2092G= (p.Val698=)
c.2020G= (p.Val674=)
c.1954G= (p.Val652=)
c.1897G= (p.Val633=)
15g.27926138C>GCA391360892OCA2c.2068G>C (p.Val690Leu)
c.1996G>C (p.Val666Leu)
c.2092G>C (p.Val698Leu)
c.2020G>C (p.Val674Leu)
c.1954G>C (p.Val652Leu)
c.1897G>C (p.Val633Leu)
gnomAD v4
15g.27926138C>TCA391360894OCA2c.2068G>A (p.Val690Ile)
c.1996G>A (p.Val666Ile)
c.2092G>A (p.Val698Ile)
c.2020G>A (p.Val674Ile)
c.1954G>A (p.Val652Ile)
c.1897G>A (p.Val633Ile)
15g.27926139A>CCA391360898OCA2c.2067T>G (p.Phe689Leu)
c.1995T>G (p.Phe665Leu)
c.2091T>G (p.Phe697Leu)
c.2019T>G (p.Phe673Leu)
c.1953T>G (p.Phe651Leu)
c.1896T>G (p.Phe632Leu)
15g.27926139A>GCA488959254OCA2c.2067T>C (p.Phe689=)
c.1995T>C (p.Phe665=)
c.2091T>C (p.Phe697=)
c.2019T>C (p.Phe673=)
c.1953T>C (p.Phe651=)
c.1896T>C (p.Phe632=)
gnomAD v4
15g.27926139A>TCA391360901OCA2c.2067T>A (p.Phe689Leu)
c.1995T>A (p.Phe665Leu)
c.2091T>A (p.Phe697Leu)
c.2019T>A (p.Phe673Leu)
c.1953T>A (p.Phe651Leu)
c.1896T>A (p.Phe632Leu)
15g.27926140A>CCA391360904OCA2c.2066T>G (p.Phe689Cys)
c.1994T>G (p.Phe665Cys)
c.2090T>G (p.Phe697Cys)
c.2018T>G (p.Phe673Cys)
c.1952T>G (p.Phe651Cys)
c.1895T>G (p.Phe632Cys)
15g.27926140A>GCA391360907OCA2c.2066T>C (p.Phe689Ser)
c.1994T>C (p.Phe665Ser)
c.2090T>C (p.Phe697Ser)
c.2018T>C (p.Phe673Ser)
c.1952T>C (p.Phe651Ser)
c.1895T>C (p.Phe632Ser)
15g.27926140A>TCA391360909OCA2c.2066T>A (p.Phe689Tyr)
c.1994T>A (p.Phe665Tyr)
c.2090T>A (p.Phe697Tyr)
c.2018T>A (p.Phe673Tyr)
c.1952T>A (p.Phe651Tyr)
c.1895T>A (p.Phe632Tyr)
15g.27926141A>CCA391360912OCA2c.2065T>G (p.Phe689Val)
c.1993T>G (p.Phe665Val)
c.2089T>G (p.Phe697Val)
c.2017T>G (p.Phe673Val)
c.1951T>G (p.Phe651Val)
c.1894T>G (p.Phe632Val)
15g.27926141A>GCA391360915OCA2c.2065T>C (p.Phe689Leu)
c.1993T>C (p.Phe665Leu)
c.2089T>C (p.Phe697Leu)
c.2017T>C (p.Phe673Leu)
c.1951T>C (p.Phe651Leu)
c.1894T>C (p.Phe632Leu)
15g.27926141A>TCA391360917OCA2c.2065T>A (p.Phe689Ile)
c.1993T>A (p.Phe665Ile)
c.2089T>A (p.Phe697Ile)
c.2017T>A (p.Phe673Ile)
c.1951T>A (p.Phe651Ile)
c.1894T>A (p.Phe632Ile)
15g.27926142G>ACA488959255OCA2c.2064C>T (p.Leu688=)
c.1992C>T (p.Leu664=)
c.2088C>T (p.Leu696=)
c.2016C>T (p.Leu672=)
c.1950C>T (p.Leu650=)
c.1893C>T (p.Leu631=)
ClinVar
15g.27926142G>CCA488959256OCA2c.2064C>G (p.Leu688=)
c.1992C>G (p.Leu664=)
c.2088C>G (p.Leu696=)
c.2016C>G (p.Leu672=)
c.1950C>G (p.Leu650=)
c.1893C>G (p.Leu631=)
gnomAD v4
15g.27926142G>TCA488959257OCA2c.2064C>A (p.Leu688=)
c.1992C>A (p.Leu664=)
c.2088C>A (p.Leu696=)
c.2016C>A (p.Leu672=)
c.1950C>A (p.Leu650=)
c.1893C>A (p.Leu631=)
15g.27926143A=CA2166365054OCA2c.2063T= (p.Leu688=)
c.1991T= (p.Leu664=)
c.2087T= (p.Leu696=)
c.2015T= (p.Leu672=)
c.1949T= (p.Leu650=)
c.1892T= (p.Leu631=)
15g.27926143A>CCA391360919OCA2c.2063T>G (p.Leu688Arg)
c.1991T>G (p.Leu664Arg)
c.2087T>G (p.Leu696Arg)
c.2015T>G (p.Leu672Arg)
c.1949T>G (p.Leu650Arg)
c.1892T>G (p.Leu631Arg)
15g.27926143A>GCA7438778OCA2c.2063T>C (p.Leu688Pro)
c.1991T>C (p.Leu664Pro)
c.2087T>C (p.Leu696Pro)
c.2015T>C (p.Leu672Pro)
c.1949T>C (p.Leu650Pro)
c.1892T>C (p.Leu631Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926143A>TCA391360926OCA2c.2063T>A (p.Leu688His)
c.1991T>A (p.Leu664His)
c.2087T>A (p.Leu696His)
c.2015T>A (p.Leu672His)
c.1949T>A (p.Leu650His)
c.1892T>A (p.Leu631His)
15g.27926144G>ACA391360936OCA2c.2062C>T (p.Leu688Phe)
c.1990C>T (p.Leu664Phe)
c.2086C>T (p.Leu696Phe)
c.2014C>T (p.Leu672Phe)
c.1948C>T (p.Leu650Phe)
c.1891C>T (p.Leu631Phe)
ClinVar
15g.27926144G>CCA391360933OCA2c.2062C>G (p.Leu688Val)
c.1990C>G (p.Leu664Val)
c.2086C>G (p.Leu696Val)
c.2014C>G (p.Leu672Val)
c.1948C>G (p.Leu650Val)
c.1891C>G (p.Leu631Val)
15g.27926144G>TCA391360929OCA2c.2062C>A (p.Leu688Ile)
c.1990C>A (p.Leu664Ile)
c.2086C>A (p.Leu696Ile)
c.2014C>A (p.Leu672Ile)
c.1948C>A (p.Leu650Ile)
c.1891C>A (p.Leu631Ile)
15g.27926145C>ACA488959258OCA2c.2061G>T (p.Ala687=)
c.1989G>T (p.Ala663=)
c.2085G>T (p.Ala695=)
c.2013G>T (p.Ala671=)
c.1947G>T (p.Ala649=)
c.1890G>T (p.Ala630=)
COSMIC
15g.27926145C=CA2166365055OCA2c.2061G= (p.Ala687=)
c.1989G= (p.Ala663=)
c.2085G= (p.Ala695=)
c.2013G= (p.Ala671=)
c.1947G= (p.Ala649=)
c.1890G= (p.Ala630=)
15g.27926145C>GCA488959259OCA2c.2061G>C (p.Ala687=)
c.1989G>C (p.Ala663=)
c.2085G>C (p.Ala695=)
c.2013G>C (p.Ala671=)
c.1947G>C (p.Ala649=)
c.1890G>C (p.Ala630=)
15g.27926145C>TCA7438779OCA2c.2061G>A (p.Ala687=)
c.1989G>A (p.Ala663=)
c.2085G>A (p.Ala695=)
c.2013G>A (p.Ala671=)
c.1947G>A (p.Ala649=)
c.1890G>A (p.Ala630=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27926145_27926148dupCA2627379624OCA2c.2058_2061dup (p.Leu688SerfsTer?)
c.1986_1989dup (p.Leu664SerfsTer?)
c.2082_2085dup (p.Leu696SerfsTer?)
c.2010_2013dup (p.Leu672SerfsTer?)
c.1944_1947dup (p.Leu650SerfsTer?)
c.2082_2085dup (p.Leu696SerfsTer19)
c.1887_1890dup (p.Leu631SerfsTer?)
gnomAD v4
15g.27926146G>ACA7438780OCA2c.2060C>T (p.Ala687Val)
c.1988C>T (p.Ala663Val)
c.2084C>T (p.Ala695Val)
c.2012C>T (p.Ala671Val)
c.1946C>T (p.Ala649Val)
c.1889C>T (p.Ala630Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27926146G>CCA391360943OCA2c.2060C>G (p.Ala687Gly)
c.1988C>G (p.Ala663Gly)
c.2084C>G (p.Ala695Gly)
c.2012C>G (p.Ala671Gly)
c.1946C>G (p.Ala649Gly)
c.1889C>G (p.Ala630Gly)
15g.27926146G=CA2166365056OCA2c.2060C= (p.Ala687=)
c.1988C= (p.Ala663=)
c.2084C= (p.Ala695=)
c.2012C= (p.Ala671=)
c.1946C= (p.Ala649=)
c.1889C= (p.Ala630=)
15g.27926146G>TCA391360946OCA2c.2060C>A (p.Ala687Glu)
c.1988C>A (p.Ala663Glu)
c.2084C>A (p.Ala695Glu)
c.2012C>A (p.Ala671Glu)
c.1946C>A (p.Ala649Glu)
c.1889C>A (p.Ala630Glu)
dbSNP gnomAD v4
15g.27926147C>ACA391360948OCA2c.2059G>T (p.Ala687Ser)
c.1987G>T (p.Ala663Ser)
c.2083G>T (p.Ala695Ser)
c.2011G>T (p.Ala671Ser)
c.1945G>T (p.Ala649Ser)
c.1888G>T (p.Ala630Ser)
15g.27926147C=CA2166365057OCA2c.2059G= (p.Ala687=)
c.1987G= (p.Ala663=)
c.2083G= (p.Ala695=)
c.2011G= (p.Ala671=)
c.1945G= (p.Ala649=)
c.1888G= (p.Ala630=)
15g.27926147C>GCA391360951OCA2c.2059G>C (p.Ala687Pro)
c.1987G>C (p.Ala663Pro)
c.2083G>C (p.Ala695Pro)
c.2011G>C (p.Ala671Pro)
c.1945G>C (p.Ala649Pro)
c.1888G>C (p.Ala630Pro)
15g.27926147C>TCA391360952OCA2c.2059G>A (p.Ala687Thr)
c.1987G>A (p.Ala663Thr)
c.2083G>A (p.Ala695Thr)
c.2011G>A (p.Ala671Thr)
c.1945G>A (p.Ala649Thr)
c.1888G>A (p.Ala630Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27926148T>ACA7438782OCA2c.2058A>T (p.Ala686=)
c.1986A>T (p.Ala662=)
c.2082A>T (p.Ala694=)
c.2010A>T (p.Ala670=)
c.1944A>T (p.Ala648=)
c.1887A>T (p.Ala629=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926148T>CCA488959260OCA2c.2058A>G (p.Ala686=)
c.1986A>G (p.Ala662=)
c.2082A>G (p.Ala694=)
c.2010A>G (p.Ala670=)
c.1944A>G (p.Ala648=)
c.1887A>G (p.Ala629=)
15g.27926148T>GCA7438781OCA2c.2058A>C (p.Ala686=)
c.1986A>C (p.Ala662=)
c.2082A>C (p.Ala694=)
c.2010A>C (p.Ala670=)
c.1944A>C (p.Ala648=)
c.1887A>C (p.Ala629=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926148T=CA2166365058OCA2c.2058A= (p.Ala686=)
c.1986A= (p.Ala662=)
c.2082A= (p.Ala694=)
c.2010A= (p.Ala670=)
c.1944A= (p.Ala648=)
c.1887A= (p.Ala629=)
15g.27926149G>ACA267867140OCA2c.2057C>T (p.Ala686Val)
c.1985C>T (p.Ala662Val)
c.2081C>T (p.Ala694Val)
c.2009C>T (p.Ala670Val)
c.1943C>T (p.Ala648Val)
c.1886C>T (p.Ala629Val)
dbSNP gnomAD v3 gnomAD v4
15g.27926149G>CCA391360963OCA2c.2057C>G (p.Ala686Gly)
c.1985C>G (p.Ala662Gly)
c.2081C>G (p.Ala694Gly)
c.2009C>G (p.Ala670Gly)
c.1943C>G (p.Ala648Gly)
c.1886C>G (p.Ala629Gly)
15g.27926149G=CA2166365059OCA2c.2057C= (p.Ala686=)
c.1985C= (p.Ala662=)
c.2081C= (p.Ala694=)
c.2009C= (p.Ala670=)
c.1943C= (p.Ala648=)
c.1886C= (p.Ala629=)
15g.27926149G>TCA391360968OCA2c.2057C>A (p.Ala686Glu)
c.1985C>A (p.Ala662Glu)
c.2081C>A (p.Ala694Glu)
c.2009C>A (p.Ala670Glu)
c.1943C>A (p.Ala648Glu)
c.1886C>A (p.Ala629Glu)
dbSNP gnomAD v2 gnomAD v4
15g.27926150C>ACA391360973OCA2c.2056G>T (p.Ala686Ser)
c.1984G>T (p.Ala662Ser)
c.2080G>T (p.Ala694Ser)
c.2008G>T (p.Ala670Ser)
c.1942G>T (p.Ala648Ser)
c.1885G>T (p.Ala629Ser)
15g.27926150C>GCA391360971OCA2c.2056G>C (p.Ala686Pro)
c.1984G>C (p.Ala662Pro)
c.2080G>C (p.Ala694Pro)
c.2008G>C (p.Ala670Pro)
c.1942G>C (p.Ala648Pro)
c.1885G>C (p.Ala629Pro)
15g.27926150C>TCA391360970OCA2c.2056G>A (p.Ala686Thr)
c.1984G>A (p.Ala662Thr)
c.2080G>A (p.Ala694Thr)
c.2008G>A (p.Ala670Thr)
c.1942G>A (p.Ala648Thr)
c.1885G>A (p.Ala629Thr)
15g.27926150_27926151delinsCACA2166365060OCA2c.2055_2056delinsTG (p.Phe685=)
c.1983_1984delinsTG (p.Phe661=)
c.2079_2080delinsTG (p.Phe693=)
c.2007_2008delinsTG (p.Phe669=)
c.1941_1942delinsTG (p.Phe647=)
c.1884_1885delinsTG (p.Phe628=)
15g.27926151A>CCA391360983OCA2c.2055T>G (p.Phe685Leu)
c.1983T>G (p.Phe661Leu)
c.2079T>G (p.Phe693Leu)
c.2007T>G (p.Phe669Leu)
c.1941T>G (p.Phe647Leu)
c.1884T>G (p.Phe628Leu)
15g.27926151A>GCA488959261OCA2c.2055T>C (p.Phe685=)
c.1983T>C (p.Phe661=)
c.2079T>C (p.Phe693=)
c.2007T>C (p.Phe669=)
c.1941T>C (p.Phe647=)
c.1884T>C (p.Phe628=)
15g.27926151A>TCA391360986OCA2c.2055T>A (p.Phe685Leu)
c.1983T>A (p.Phe661Leu)
c.2079T>A (p.Phe693Leu)
c.2007T>A (p.Phe669Leu)
c.1941T>A (p.Phe647Leu)
c.1884T>A (p.Phe628Leu)
15g.27926156dupCA7438784OCA2c.2055dup (p.Ala686CysfsTer?)
c.1983dup (p.Ala662CysfsTer?)
c.2079dup (p.Ala694CysfsTer?)
c.2007dup (p.Ala670CysfsTer?)
c.1941dup (p.Ala648CysfsTer?)
c.2079dup (p.Ala694CysfsTer20)
c.1884dup (p.Ala629CysfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926156delCA7438783OCA2c.2055del (p.Phe685LeufsTer7)
c.1983del (p.Phe661LeufsTer7)
c.2079del (p.Phe693LeufsTer7)
c.2007del (p.Phe669LeufsTer7)
c.1941del (p.Phe647LeufsTer7)
c.1884del (p.Phe628LeufsTer7)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926152A>CCA391360994OCA2c.2054T>G (p.Phe685Cys)
c.1982T>G (p.Phe661Cys)
c.2078T>G (p.Phe693Cys)
c.2006T>G (p.Phe669Cys)
c.1940T>G (p.Phe647Cys)
c.1883T>G (p.Phe628Cys)
15g.27926152A>GCA391360997OCA2c.2054T>C (p.Phe685Ser)
c.1982T>C (p.Phe661Ser)
c.2078T>C (p.Phe693Ser)
c.2006T>C (p.Phe669Ser)
c.1940T>C (p.Phe647Ser)
c.1883T>C (p.Phe628Ser)
15g.27926152A>TCA391360999OCA2c.2054T>A (p.Phe685Tyr)
c.1982T>A (p.Phe661Tyr)
c.2078T>A (p.Phe693Tyr)
c.2006T>A (p.Phe669Tyr)
c.1940T>A (p.Phe647Tyr)
c.1883T>A (p.Phe628Tyr)
15g.27926153A=CA2166365061OCA2c.2053T= (p.Phe685=)
c.1981T= (p.Phe661=)
c.2077T= (p.Phe693=)
c.2005T= (p.Phe669=)
c.1939T= (p.Phe647=)
c.1882T= (p.Phe628=)
15g.27926153A>CCA391361001OCA2c.2053T>G (p.Phe685Val)
c.1981T>G (p.Phe661Val)
c.2077T>G (p.Phe693Val)
c.2005T>G (p.Phe669Val)
c.1939T>G (p.Phe647Val)
c.1882T>G (p.Phe628Val)
15g.27926153A>GCA267867154OCA2c.2053T>C (p.Phe685Leu)
c.1981T>C (p.Phe661Leu)
c.2077T>C (p.Phe693Leu)
c.2005T>C (p.Phe669Leu)
c.1939T>C (p.Phe647Leu)
c.1882T>C (p.Phe628Leu)
dbSNP
15g.27926153A>TCA391361006OCA2c.2053T>A (p.Phe685Ile)
c.1981T>A (p.Phe661Ile)
c.2077T>A (p.Phe693Ile)
c.2005T>A (p.Phe669Ile)
c.1939T>A (p.Phe647Ile)
c.1882T>A (p.Phe628Ile)
15g.27926153_27926155delinsAAACA2166365062OCA2c.2051_2053delinsTTT (p.Phe684=)
c.1979_1981delinsTTT (p.Phe660=)
c.2075_2077delinsTTT (p.Phe692=)
c.2003_2005delinsTTT (p.Phe668=)
c.1937_1939delinsTTT (p.Phe646=)
c.1880_1882delinsTTT (p.Phe627=)
15g.27926154A>CCA391361008OCA2c.2052T>G (p.Phe684Leu)
c.1980T>G (p.Phe660Leu)
c.2076T>G (p.Phe692Leu)
c.2004T>G (p.Phe668Leu)
c.1938T>G (p.Phe646Leu)
c.1881T>G (p.Phe627Leu)
15g.27926154A>GCA488959262OCA2c.2052T>C (p.Phe684=)
c.1980T>C (p.Phe660=)
c.2076T>C (p.Phe692=)
c.2004T>C (p.Phe668=)
c.1938T>C (p.Phe646=)
c.1881T>C (p.Phe627=)
15g.27926154A>TCA391361011OCA2c.2052T>A (p.Phe684Leu)
c.1980T>A (p.Phe660Leu)
c.2076T>A (p.Phe692Leu)
c.2004T>A (p.Phe668Leu)
c.1938T>A (p.Phe646Leu)
c.1881T>A (p.Phe627Leu)
15g.27926154_27926155delinsCCA915946478OCA2c.2051_2052delinsG (p.Phe684CysfsTer8)
c.1979_1980delinsG (p.Phe660CysfsTer8)
c.2075_2076delinsG (p.Phe692CysfsTer8)
c.2003_2004delinsG (p.Phe668CysfsTer8)
c.1937_1938delinsG (p.Phe646CysfsTer8)
c.1880_1881delinsG (p.Phe627CysfsTer8)
ClinVar dbSNP
15g.27926155A=CA2166365063OCA2c.2051T= (p.Phe684=)
c.1979T= (p.Phe660=)
c.2075T= (p.Phe692=)
c.2003T= (p.Phe668=)
c.1937T= (p.Phe646=)
c.1880T= (p.Phe627=)
15g.27926155A>CCA7438785OCA2c.2051T>G (p.Phe684Cys)
c.1979T>G (p.Phe660Cys)
c.2075T>G (p.Phe692Cys)
c.2003T>G (p.Phe668Cys)
c.1937T>G (p.Phe646Cys)
c.1880T>G (p.Phe627Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926155A>GCA391361017OCA2c.2051T>C (p.Phe684Ser)
c.1979T>C (p.Phe660Ser)
c.2075T>C (p.Phe692Ser)
c.2003T>C (p.Phe668Ser)
c.1937T>C (p.Phe646Ser)
c.1880T>C (p.Phe627Ser)
dbSNP gnomAD v2 gnomAD v4
15g.27926155A>TCA391361015OCA2c.2051T>A (p.Phe684Tyr)
c.1979T>A (p.Phe660Tyr)
c.2075T>A (p.Phe692Tyr)
c.2003T>A (p.Phe668Tyr)
c.1937T>A (p.Phe646Tyr)
c.1880T>A (p.Phe627Tyr)
15g.27926156A=CA2166365064OCA2c.2050T= (p.Phe684=)
c.1978T= (p.Phe660=)
c.2074T= (p.Phe692=)
c.2002T= (p.Phe668=)
c.1936T= (p.Phe646=)
c.1879T= (p.Phe627=)
15g.27926156A>CCA391361020OCA2c.2050T>G (p.Phe684Val)
c.1978T>G (p.Phe660Val)
c.2074T>G (p.Phe692Val)
c.2002T>G (p.Phe668Val)
c.1936T>G (p.Phe646Val)
c.1879T>G (p.Phe627Val)
15g.27926156A>GCA391361024OCA2c.2050T>C (p.Phe684Leu)
c.1978T>C (p.Phe660Leu)
c.2074T>C (p.Phe692Leu)
c.2002T>C (p.Phe668Leu)
c.1936T>C (p.Phe646Leu)
c.1879T>C (p.Phe627Leu)
15g.27926156A>TCA7438786OCA2c.2050T>A (p.Phe684Ile)
c.1978T>A (p.Phe660Ile)
c.2074T>A (p.Phe692Ile)
c.2002T>A (p.Phe668Ile)
c.1936T>A (p.Phe646Ile)
c.1879T>A (p.Phe627Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926156_27926157insGCA7438787OCA2c.2049_2050insC (p.Phe684LeufsTer?)
c.1977_1978insC (p.Phe660LeufsTer?)
c.2073_2074insC (p.Phe692LeufsTer?)
c.2001_2002insC (p.Phe668LeufsTer?)
c.1935_1936insC (p.Phe646LeufsTer?)
c.2073_2074insC (p.Phe692LeufsTer22)
c.1878_1879insC (p.Phe627LeufsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926157C>ACA488959264OCA2c.2049G>T (p.Leu683=)
c.1977G>T (p.Leu659=)
c.2073G>T (p.Leu691=)
c.2001G>T (p.Leu667=)
c.1935G>T (p.Leu645=)
c.1878G>T (p.Leu626=)
15g.27926157C>GCA488959265OCA2c.2049G>C (p.Leu683=)
c.1977G>C (p.Leu659=)
c.2073G>C (p.Leu691=)
c.2001G>C (p.Leu667=)
c.1935G>C (p.Leu645=)
c.1878G>C (p.Leu626=)
15g.27926157C>TCA488959263OCA2c.2049G>A (p.Leu683=)
c.1977G>A (p.Leu659=)
c.2073G>A (p.Leu691=)
c.2001G>A (p.Leu667=)
c.1935G>A (p.Leu645=)
c.1878G>A (p.Leu626=)
15g.27926158A=CA2166365065OCA2c.2048T= (p.Leu683=)
c.1976T= (p.Leu659=)
c.2072T= (p.Leu691=)
c.2000T= (p.Leu667=)
c.1934T= (p.Leu645=)
c.1877T= (p.Leu626=)
15g.27926158A>CCA391361027OCA2c.2048T>G (p.Leu683Arg)
c.1976T>G (p.Leu659Arg)
c.2072T>G (p.Leu691Arg)
c.2000T>G (p.Leu667Arg)
c.1934T>G (p.Leu645Arg)
c.1877T>G (p.Leu626Arg)
15g.27926158A>GCA7438788OCA2c.2048T>C (p.Leu683Pro)
c.1976T>C (p.Leu659Pro)
c.2072T>C (p.Leu691Pro)
c.2000T>C (p.Leu667Pro)
c.1934T>C (p.Leu645Pro)
c.1877T>C (p.Leu626Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926158A>TCA391361029OCA2c.2048T>A (p.Leu683Gln)
c.1976T>A (p.Leu659Gln)
c.2072T>A (p.Leu691Gln)
c.2000T>A (p.Leu667Gln)
c.1934T>A (p.Leu645Gln)
c.1877T>A (p.Leu626Gln)
15g.27926159G>ACA488959266OCA2c.2047C>T (p.Leu683=)
c.1975C>T (p.Leu659=)
c.2071C>T (p.Leu691=)
c.1999C>T (p.Leu667=)
c.1933C>T (p.Leu645=)
c.1876C>T (p.Leu626=)
15g.27926159G>CCA391361031OCA2c.2047C>G (p.Leu683Val)
c.1975C>G (p.Leu659Val)
c.2071C>G (p.Leu691Val)
c.1999C>G (p.Leu667Val)
c.1933C>G (p.Leu645Val)
c.1876C>G (p.Leu626Val)
15g.27926159G>TCA391361033OCA2c.2047C>A (p.Leu683Met)
c.1975C>A (p.Leu659Met)
c.2071C>A (p.Leu691Met)
c.1999C>A (p.Leu667Met)
c.1933C>A (p.Leu645Met)
c.1876C>A (p.Leu626Met)
15g.27926160A>CCA488959267OCA2c.2046T>G (p.Leu682=)
c.1974T>G (p.Leu658=)
c.2070T>G (p.Leu690=)
c.1998T>G (p.Leu666=)
c.1932T>G (p.Leu644=)
c.1875T>G (p.Leu625=)
15g.27926160A>GCA488959268OCA2c.2046T>C (p.Leu682=)
c.1974T>C (p.Leu658=)
c.2070T>C (p.Leu690=)
c.1998T>C (p.Leu666=)
c.1932T>C (p.Leu644=)
c.1875T>C (p.Leu625=)
15g.27926160A>TCA488959269OCA2c.2046T>A (p.Leu682=)
c.1974T>A (p.Leu658=)
c.2070T>A (p.Leu690=)
c.1998T>A (p.Leu666=)
c.1932T>A (p.Leu644=)
c.1875T>A (p.Leu625=)
15g.27926161A=CA2166365066OCA2c.2045T= (p.Leu682=)
c.1973T= (p.Leu658=)
c.2069T= (p.Leu690=)
c.1997T= (p.Leu666=)
c.1931T= (p.Leu644=)
c.1874T= (p.Leu625=)
15g.27926161A>CCA391361035OCA2c.2045T>G (p.Leu682Arg)
c.1973T>G (p.Leu658Arg)
c.2069T>G (p.Leu690Arg)
c.1997T>G (p.Leu666Arg)
c.1931T>G (p.Leu644Arg)
c.1874T>G (p.Leu625Arg)
15g.27926161A>GCA391361037OCA2c.2045T>C (p.Leu682Pro)
c.1973T>C (p.Leu658Pro)
c.2069T>C (p.Leu690Pro)
c.1997T>C (p.Leu666Pro)
c.1931T>C (p.Leu644Pro)
c.1874T>C (p.Leu625Pro)
dbSNP gnomAD v3 gnomAD v4
15g.27926161A>TCA391361039OCA2c.2045T>A (p.Leu682His)
c.1973T>A (p.Leu658His)
c.2069T>A (p.Leu690His)
c.1997T>A (p.Leu666His)
c.1931T>A (p.Leu644His)
c.1874T>A (p.Leu625His)
15g.27926162G>ACA391361041OCA2c.2044C>T (p.Leu682Phe)
c.1972C>T (p.Leu658Phe)
c.2068C>T (p.Leu690Phe)
c.1996C>T (p.Leu666Phe)
c.1930C>T (p.Leu644Phe)
c.1873C>T (p.Leu625Phe)
15g.27926162G>CCA391361042OCA2c.2044C>G (p.Leu682Val)
c.1972C>G (p.Leu658Val)
c.2068C>G (p.Leu690Val)
c.1996C>G (p.Leu666Val)
c.1930C>G (p.Leu644Val)
c.1873C>G (p.Leu625Val)
gnomAD v4
15g.27926162G>TCA391361044OCA2c.2044C>A (p.Leu682Ile)
c.1972C>A (p.Leu658Ile)
c.2068C>A (p.Leu690Ile)
c.1996C>A (p.Leu666Ile)
c.1930C>A (p.Leu644Ile)
c.1873C>A (p.Leu625Ile)
15g.27926164delCA488959270OCA2c.2044del (p.Leu682PhefsTer10)
c.1972del (p.Leu658PhefsTer10)
c.2068del (p.Leu690PhefsTer10)
c.1996del (p.Leu666PhefsTer10)
c.1930del (p.Leu644PhefsTer10)
c.1873del (p.Leu625PhefsTer10)
15g.27926163G>ACA488959271OCA2c.2043C>T (p.Thr681=)
c.1971C>T (p.Thr657=)
c.2067C>T (p.Thr689=)
c.1995C>T (p.Thr665=)
c.1929C>T (p.Thr643=)
c.1872C>T (p.Thr624=)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27926163G>CCA7438789OCA2c.2043C>G (p.Thr681=)
c.1971C>G (p.Thr657=)
c.2067C>G (p.Thr689=)
c.1995C>G (p.Thr665=)
c.1929C>G (p.Thr643=)
c.1872C>G (p.Thr624=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926163G=CA2166365067OCA2c.2043C= (p.Thr681=)
c.1971C= (p.Thr657=)
c.2067C= (p.Thr689=)
c.1995C= (p.Thr665=)
c.1929C= (p.Thr643=)
c.1872C= (p.Thr624=)
15g.27926163G>TCA7438790OCA2c.2043C>A (p.Thr681=)
c.1971C>A (p.Thr657=)
c.2067C>A (p.Thr689=)
c.1995C>A (p.Thr665=)
c.1929C>A (p.Thr643=)
c.1872C>A (p.Thr624=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926164G>ACA391361050OCA2c.2042C>T (p.Thr681Ile)
c.1970C>T (p.Thr657Ile)
c.2066C>T (p.Thr689Ile)
c.1994C>T (p.Thr665Ile)
c.1928C>T (p.Thr643Ile)
c.1871C>T (p.Thr624Ile)
15g.27926164G>CCA391361051OCA2c.2042C>G (p.Thr681Ser)
c.1970C>G (p.Thr657Ser)
c.2066C>G (p.Thr689Ser)
c.1994C>G (p.Thr665Ser)
c.1928C>G (p.Thr643Ser)
c.1871C>G (p.Thr624Ser)
dbSNP
15g.27926164G=CA2166365068OCA2c.2042C= (p.Thr681=)
c.1970C= (p.Thr657=)
c.2066C= (p.Thr689=)
c.1994C= (p.Thr665=)
c.1928C= (p.Thr643=)
c.1871C= (p.Thr624=)
15g.27926164G>TCA391361053OCA2c.2042C>A (p.Thr681Asn)
c.1970C>A (p.Thr657Asn)
c.2066C>A (p.Thr689Asn)
c.1994C>A (p.Thr665Asn)
c.1928C>A (p.Thr643Asn)
c.1871C>A (p.Thr624Asn)
15g.27926165T>ACA391361056OCA2c.2041A>T (p.Thr681Ser)
c.1969A>T (p.Thr657Ser)
c.2065A>T (p.Thr689Ser)
c.1993A>T (p.Thr665Ser)
c.1927A>T (p.Thr643Ser)
c.1870A>T (p.Thr624Ser)
15g.27926165T>CCA391361057OCA2c.2041A>G (p.Thr681Ala)
c.1969A>G (p.Thr657Ala)
c.2065A>G (p.Thr689Ala)
c.1993A>G (p.Thr665Ala)
c.1927A>G (p.Thr643Ala)
c.1870A>G (p.Thr624Ala)
15g.27926165T>GCA391361060OCA2c.2041A>C (p.Thr681Pro)
c.1969A>C (p.Thr657Pro)
c.2065A>C (p.Thr689Pro)
c.1993A>C (p.Thr665Pro)
c.1927A>C (p.Thr643Pro)
c.1870A>C (p.Thr624Pro)
15g.27926166delCA2730411292OCA2c.2041del (p.Thr681ProfsTer11)
c.1969del (p.Thr657ProfsTer11)
c.2065del (p.Thr689ProfsTer11)
c.1993del (p.Thr665ProfsTer11)
c.1927del (p.Thr643ProfsTer11)
c.1870del (p.Thr624ProfsTer11)
dbSNP
15g.27926166T>ACA488959272OCA2c.2040A>T (p.Ala680=)
c.1968A>T (p.Ala656=)
c.2064A>T (p.Ala688=)
c.1992A>T (p.Ala664=)
c.1926A>T (p.Ala642=)
c.1869A>T (p.Ala623=)
15g.27926166T>CCA488959274OCA2c.2040A>G (p.Ala680=)
c.1968A>G (p.Ala656=)
c.2064A>G (p.Ala688=)
c.1992A>G (p.Ala664=)
c.1926A>G (p.Ala642=)
c.1869A>G (p.Ala623=)
15g.27926166T>GCA488959273OCA2c.2040A>C (p.Ala680=)
c.1968A>C (p.Ala656=)
c.2064A>C (p.Ala688=)
c.1992A>C (p.Ala664=)
c.1926A>C (p.Ala642=)
c.1869A>C (p.Ala623=)
15g.27926167G>ACA391361062OCA2c.2039C>T (p.Ala680Val)
c.1967C>T (p.Ala656Val)
c.2063C>T (p.Ala688Val)
c.1991C>T (p.Ala664Val)
c.1925C>T (p.Ala642Val)
c.1868C>T (p.Ala623Val)
gnomAD v4
15g.27926167G>CCA391361064OCA2c.2039C>G (p.Ala680Gly)
c.1967C>G (p.Ala656Gly)
c.2063C>G (p.Ala688Gly)
c.1991C>G (p.Ala664Gly)
c.1925C>G (p.Ala642Gly)
c.1868C>G (p.Ala623Gly)
15g.27926167G>TCA391361066OCA2c.2039C>A (p.Ala680Glu)
c.1967C>A (p.Ala656Glu)
c.2063C>A (p.Ala688Glu)
c.1991C>A (p.Ala664Glu)
c.1925C>A (p.Ala642Glu)
c.1868C>A (p.Ala623Glu)
gnomAD v4
15g.27926167_27926174delinsCTACA2695197228OCA2c.2032_2039delinsTAG (p.Glu678Ter)
c.1960_1967delinsTAG (p.Glu654Ter)
c.2056_2063delinsTAG (p.Glu686Ter)
c.1984_1991delinsTAG (p.Glu662Ter)
c.1918_1925delinsTAG (p.Glu640Ter)
c.1861_1868delinsTAG (p.Glu621Ter)
ClinVar
15g.27926168C>ACA391361068OCA2c.2038G>T (p.Ala680Ser)
c.1966G>T (p.Ala656Ser)
c.2062G>T (p.Ala688Ser)
c.1990G>T (p.Ala664Ser)
c.1924G>T (p.Ala642Ser)
c.1867G>T (p.Ala623Ser)
15g.27926168C>GCA391361070OCA2c.2038G>C (p.Ala680Pro)
c.1966G>C (p.Ala656Pro)
c.2062G>C (p.Ala688Pro)
c.1990G>C (p.Ala664Pro)
c.1924G>C (p.Ala642Pro)
c.1867G>C (p.Ala623Pro)
15g.27926168C>TCA391361071OCA2c.2038G>A (p.Ala680Thr)
c.1966G>A (p.Ala656Thr)
c.2062G>A (p.Ala688Thr)
c.1990G>A (p.Ala664Thr)
c.1924G>A (p.Ala642Thr)
c.1867G>A (p.Ala623Thr)
15g.27926170delCA2627379631OCA2c.2038del (p.Ala680GlnfsTer12)
c.1966del (p.Ala656GlnfsTer12)
c.2062del (p.Ala688GlnfsTer12)
c.1990del (p.Ala664GlnfsTer12)
c.1924del (p.Ala642GlnfsTer12)
c.1867del (p.Ala623GlnfsTer12)
gnomAD v4
15g.27926169C>ACA391361073OCA2c.2037G>T (p.Trp679Cys)
c.1965G>T (p.Trp655Cys)
c.2061G>T (p.Trp687Cys)
c.1989G>T (p.Trp663Cys)
c.1923G>T (p.Trp641Cys)
c.1866G>T (p.Trp622Cys)
dbSNP
15g.27926169C=CA2166365069OCA2c.2037G= (p.Trp679=)
c.1965G= (p.Trp655=)
c.2061G= (p.Trp687=)
c.1989G= (p.Trp663=)
c.1923G= (p.Trp641=)
c.1866G= (p.Trp622=)
15g.27926169C>GCA251639OCA2c.2037G>C (p.Trp679Cys)
c.1965G>C (p.Trp655Cys)
c.2061G>C (p.Trp687Cys)
c.1989G>C (p.Trp663Cys)
c.1923G>C (p.Trp641Cys)
c.1866G>C (p.Trp622Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926169C>TCA391361075OCA2c.2037G>A (p.Trp679Ter)
c.1965G>A (p.Trp655Ter)
c.2061G>A (p.Trp687Ter)
c.1989G>A (p.Trp663Ter)
c.1923G>A (p.Trp641Ter)
c.1866G>A (p.Trp622Ter)
15g.27926170C>ACA391361077OCA2c.2036G>T (p.Trp679Leu)
c.1964G>T (p.Trp655Leu)
c.2060G>T (p.Trp687Leu)
c.1988G>T (p.Trp663Leu)
c.1922G>T (p.Trp641Leu)
c.1865G>T (p.Trp622Leu)
dbSNP
15g.27926170C=CA2166365070OCA2c.2036G= (p.Trp679=)
c.1964G= (p.Trp655=)
c.2060G= (p.Trp687=)
c.1988G= (p.Trp663=)
c.1922G= (p.Trp641=)
c.1865G= (p.Trp622=)
15g.27926170C>GCA391361079OCA2c.2036G>C (p.Trp679Ser)
c.1964G>C (p.Trp655Ser)
c.2060G>C (p.Trp687Ser)
c.1988G>C (p.Trp663Ser)
c.1922G>C (p.Trp641Ser)
c.1865G>C (p.Trp622Ser)
15g.27926170C>TCA391361081OCA2c.2036G>A (p.Trp679Ter)
c.1964G>A (p.Trp655Ter)
c.2060G>A (p.Trp687Ter)
c.1988G>A (p.Trp663Ter)
c.1922G>A (p.Trp641Ter)
c.1865G>A (p.Trp622Ter)
dbSNP gnomAD v3 gnomAD v4
15g.27926171A=CA2166365071OCA2c.2035T= (p.Trp679=)
c.1963T= (p.Trp655=)
c.2059T= (p.Trp687=)
c.1987T= (p.Trp663=)
c.1921T= (p.Trp641=)
c.1864T= (p.Trp622=)
15g.27926171A>CCA391361083OCA2c.2035T>G (p.Trp679Gly)
c.1963T>G (p.Trp655Gly)
c.2059T>G (p.Trp687Gly)
c.1987T>G (p.Trp663Gly)
c.1921T>G (p.Trp641Gly)
c.1864T>G (p.Trp622Gly)
15g.27926171A>GCA7438791OCA2c.2035T>C (p.Trp679Arg)
c.1963T>C (p.Trp655Arg)
c.2059T>C (p.Trp687Arg)
c.1987T>C (p.Trp663Arg)
c.1921T>C (p.Trp641Arg)
c.1864T>C (p.Trp622Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926171A>TCA391361086OCA2c.2035T>A (p.Trp679Arg)
c.1963T>A (p.Trp655Arg)
c.2059T>A (p.Trp687Arg)
c.1987T>A (p.Trp663Arg)
c.1921T>A (p.Trp641Arg)
c.1864T>A (p.Trp622Arg)
15g.27926172T>ACA391361087OCA2c.2034A>T (p.Glu678Asp)
c.1962A>T (p.Glu654Asp)
c.2058A>T (p.Glu686Asp)
c.1986A>T (p.Glu662Asp)
c.1920A>T (p.Glu640Asp)
c.1863A>T (p.Glu621Asp)
15g.27926172T>CCA488959275OCA2c.2034A>G (p.Glu678=)
c.1962A>G (p.Glu654=)
c.2058A>G (p.Glu686=)
c.1986A>G (p.Glu662=)
c.1920A>G (p.Glu640=)
c.1863A>G (p.Glu621=)
15g.27926172T>GCA391361089OCA2c.2034A>C (p.Glu678Asp)
c.1962A>C (p.Glu654Asp)
c.2058A>C (p.Glu686Asp)
c.1986A>C (p.Glu662Asp)
c.1920A>C (p.Glu640Asp)
c.1863A>C (p.Glu621Asp)
15g.27926173T>ACA391361092OCA2c.2033A>T (p.Glu678Val)
c.1961A>T (p.Glu654Val)
c.2057A>T (p.Glu686Val)
c.1985A>T (p.Glu662Val)
c.1919A>T (p.Glu640Val)
c.1862A>T (p.Glu621Val)
15g.27926173T>CCA391361097OCA2c.2033A>G (p.Glu678Gly)
c.1961A>G (p.Glu654Gly)
c.2057A>G (p.Glu686Gly)
c.1985A>G (p.Glu662Gly)
c.1919A>G (p.Glu640Gly)
c.1862A>G (p.Glu621Gly)
15g.27926173T>GCA391361098OCA2c.2033A>C (p.Glu678Ala)
c.1961A>C (p.Glu654Ala)
c.2057A>C (p.Glu686Ala)
c.1985A>C (p.Glu662Ala)
c.1919A>C (p.Glu640Ala)
c.1862A>C (p.Glu621Ala)
15g.27926174C>ACA391361105OCA2c.2032G>T (p.Glu678Ter)
c.1960G>T (p.Glu654Ter)
c.2056G>T (p.Glu686Ter)
c.1984G>T (p.Glu662Ter)
c.1918G>T (p.Glu640Ter)
c.1861G>T (p.Glu621Ter)
15g.27926174C=CA2166365072OCA2c.2032G= (p.Glu678=)
c.1960G= (p.Glu654=)
c.2056G= (p.Glu686=)
c.1984G= (p.Glu662=)
c.1918G= (p.Glu640=)
c.1861G= (p.Glu621=)
15g.27926174C>GCA391361103OCA2c.2032G>C (p.Glu678Gln)
c.1960G>C (p.Glu654Gln)
c.2056G>C (p.Glu686Gln)
c.1984G>C (p.Glu662Gln)
c.1918G>C (p.Glu640Gln)
c.1861G>C (p.Glu621Gln)
15g.27926174C>TCA391361101OCA2c.2032G>A (p.Glu678Lys)
c.1960G>A (p.Glu654Lys)
c.2056G>A (p.Glu686Lys)
c.1984G>A (p.Glu662Lys)
c.1918G>A (p.Glu640Lys)
c.1861G>A (p.Glu621Lys)
dbSNP gnomAD v4
15g.27926175C>ACA488959276OCA2c.2031G>T (p.Val677=)
c.1959G>T (p.Val653=)
c.2055G>T (p.Val685=)
c.1983G>T (p.Val661=)
c.1917G>T (p.Val639=)
c.1860G>T (p.Val620=)
15g.27926175C=CA2166365073OCA2c.2031G= (p.Val677=)
c.1959G= (p.Val653=)
c.2055G= (p.Val685=)
c.1983G= (p.Val661=)
c.1917G= (p.Val639=)
c.1860G= (p.Val620=)
15g.27926175C>GCA488959277OCA2c.2031G>C (p.Val677=)
c.1959G>C (p.Val653=)
c.2055G>C (p.Val685=)
c.1983G>C (p.Val661=)
c.1917G>C (p.Val639=)
c.1860G>C (p.Val620=)
15g.27926175C>TCA488959278OCA2c.2031G>A (p.Val677=)
c.1959G>A (p.Val653=)
c.2055G>A (p.Val685=)
c.1983G>A (p.Val661=)
c.1917G>A (p.Val639=)
c.1860G>A (p.Val620=)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27926176A>CCA391361108OCA2c.2030T>G (p.Val677Gly)
c.1958T>G (p.Val653Gly)
c.2054T>G (p.Val685Gly)
c.1982T>G (p.Val661Gly)
c.1916T>G (p.Val639Gly)
c.1859T>G (p.Val620Gly)
15g.27926176A>GCA391361109OCA2c.2030T>C (p.Val677Ala)
c.1958T>C (p.Val653Ala)
c.2054T>C (p.Val685Ala)
c.1982T>C (p.Val661Ala)
c.1916T>C (p.Val639Ala)
c.1859T>C (p.Val620Ala)
ClinVar dbSNP gnomAD v4
15g.27926176A>TCA391361110OCA2c.2030T>A (p.Val677Glu)
c.1958T>A (p.Val653Glu)
c.2054T>A (p.Val685Glu)
c.1982T>A (p.Val661Glu)
c.1916T>A (p.Val639Glu)
c.1859T>A (p.Val620Glu)
15g.27926177C>ACA391361113OCA2c.2029G>T (p.Val677Leu)
c.1957G>T (p.Val653Leu)
c.2053G>T (p.Val685Leu)
c.1981G>T (p.Val661Leu)
c.1915G>T (p.Val639Leu)
c.1858G>T (p.Val620Leu)
15g.27926177C=CA2166365074OCA2c.2029G= (p.Val677=)
c.1957G= (p.Val653=)
c.2053G= (p.Val685=)
c.1981G= (p.Val661=)
c.1915G= (p.Val639=)
c.1858G= (p.Val620=)
15g.27926177C>GCA391361115OCA2c.2029G>C (p.Val677Leu)
c.1957G>C (p.Val653Leu)
c.2053G>C (p.Val685Leu)
c.1981G>C (p.Val661Leu)
c.1915G>C (p.Val639Leu)
c.1858G>C (p.Val620Leu)
15g.27926177C>TCA391361117OCA2c.2029G>A (p.Val677Met)
c.1957G>A (p.Val653Met)
c.2053G>A (p.Val685Met)
c.1981G>A (p.Val661Met)
c.1915G>A (p.Val639Met)
c.1858G>A (p.Val620Met)
dbSNP gnomAD v3 gnomAD v4
15g.27926178T>ACA391361120OCA2c.2028A>T (p.Arg676Ser)
c.1956A>T (p.Arg652Ser)
c.2052A>T (p.Arg684Ser)
c.1980A>T (p.Arg660Ser)
c.1914A>T (p.Arg638Ser)
c.1857A>T (p.Arg619Ser)
15g.27926178T>CCA488959279OCA2c.2028A>G (p.Arg676=)
c.1956A>G (p.Arg652=)
c.2052A>G (p.Arg684=)
c.1980A>G (p.Arg660=)
c.1914A>G (p.Arg638=)
c.1857A>G (p.Arg619=)
15g.27926178T>GCA391361121OCA2c.2028A>C (p.Arg676Ser)
c.1956A>C (p.Arg652Ser)
c.2052A>C (p.Arg684Ser)
c.1980A>C (p.Arg660Ser)
c.1914A>C (p.Arg638Ser)
c.1857A>C (p.Arg619Ser)
15g.27926178_27926179delinsTCCA2166365075OCA2c.2027_2028delinsGA (p.Arg676=)
c.1955_1956delinsGA (p.Arg652=)
c.2051_2052delinsGA (p.Arg684=)
c.1979_1980delinsGA (p.Arg660=)
c.1913_1914delinsGA (p.Arg638=)
c.1856_1857delinsGA (p.Arg619=)
15g.27926179delCA616704970OCA2c.2027del (p.Arg676LysfsTer16)
c.1955del (p.Arg652LysfsTer16)
c.2051del (p.Arg684LysfsTer16)
c.1979del (p.Arg660LysfsTer16)
c.1913del (p.Arg638LysfsTer16)
c.1856del (p.Arg619LysfsTer16)
dbSNP gnomAD v2 gnomAD v4
15g.27926179C>ACA391361124OCA2c.2027G>T (p.Arg676Ile)
c.1955G>T (p.Arg652Ile)
c.2051G>T (p.Arg684Ile)
c.1979G>T (p.Arg660Ile)
c.1913G>T (p.Arg638Ile)
c.1856G>T (p.Arg619Ile)
gnomAD v4
15g.27926179C>GCA391361125OCA2c.2027G>C (p.Arg676Thr)
c.1955G>C (p.Arg652Thr)
c.2051G>C (p.Arg684Thr)
c.1979G>C (p.Arg660Thr)
c.1913G>C (p.Arg638Thr)
c.1856G>C (p.Arg619Thr)
15g.27926179C>TCA391361126OCA2c.2027G>A (p.Arg676Lys)
c.1955G>A (p.Arg652Lys)
c.2051G>A (p.Arg684Lys)
c.1979G>A (p.Arg660Lys)
c.1913G>A (p.Arg638Lys)
c.1856G>A (p.Arg619Lys)
15g.27926180T>ACA391361128OCA2c.2026A>T (p.Arg676Ter)
c.1954A>T (p.Arg652Ter)
c.2050A>T (p.Arg684Ter)
c.1978A>T (p.Arg660Ter)
c.1912A>T (p.Arg638Ter)
c.1855A>T (p.Arg619Ter)
15g.27926180T>CCA391361130OCA2c.2026A>G (p.Arg676Gly)
c.1954A>G (p.Arg652Gly)
c.2050A>G (p.Arg684Gly)
c.1978A>G (p.Arg660Gly)
c.1912A>G (p.Arg638Gly)
c.1855A>G (p.Arg619Gly)
gnomAD v4 COSMIC
15g.27926180T>GCA488959280OCA2c.2026A>C (p.Arg676=)
c.1954A>C (p.Arg652=)
c.2050A>C (p.Arg684=)
c.1978A>C (p.Arg660=)
c.1912A>C (p.Arg638=)
c.1855A>C (p.Arg619=)
15g.27926181G>ACA488959281OCA2c.2025C>T (p.His675=)
c.1953C>T (p.His651=)
c.2049C>T (p.His683=)
c.1977C>T (p.His659=)
c.1911C>T (p.His637=)
c.1854C>T (p.His618=)
15g.27926181G>CCA391361133OCA2c.2025C>G (p.His675Gln)
c.1953C>G (p.His651Gln)
c.2049C>G (p.His683Gln)
c.1977C>G (p.His659Gln)
c.1911C>G (p.His637Gln)
c.1854C>G (p.His618Gln)
15g.27926181G>TCA391361131OCA2c.2025C>A (p.His675Gln)
c.1953C>A (p.His651Gln)
c.2049C>A (p.His683Gln)
c.1977C>A (p.His659Gln)
c.1911C>A (p.His637Gln)
c.1854C>A (p.His618Gln)
15g.27926182T>ACA391361135OCA2c.2024A>T (p.His675Leu)
c.1952A>T (p.His651Leu)
c.2048A>T (p.His683Leu)
c.1976A>T (p.His659Leu)
c.1910A>T (p.His637Leu)
c.1853A>T (p.His618Leu)
15g.27926182T>CCA391361138OCA2c.2024A>G (p.His675Arg)
c.1952A>G (p.His651Arg)
c.2048A>G (p.His683Arg)
c.1976A>G (p.His659Arg)
c.1910A>G (p.His637Arg)
c.1853A>G (p.His618Arg)
15g.27926182T>GCA391361136OCA2c.2024A>C (p.His675Pro)
c.1952A>C (p.His651Pro)
c.2048A>C (p.His683Pro)
c.1976A>C (p.His659Pro)
c.1910A>C (p.His637Pro)
c.1853A>C (p.His618Pro)
15g.27926183G>ACA391361140OCA2c.2023C>T (p.His675Tyr)
c.1951C>T (p.His651Tyr)
c.2047C>T (p.His683Tyr)
c.1975C>T (p.His659Tyr)
c.1909C>T (p.His637Tyr)
c.1852C>T (p.His618Tyr)
gnomAD v4
15g.27926183G>CCA391361143OCA2c.2023C>G (p.His675Asp)
c.1951C>G (p.His651Asp)
c.2047C>G (p.His683Asp)
c.1975C>G (p.His659Asp)
c.1909C>G (p.His637Asp)
c.1852C>G (p.His618Asp)
15g.27926183G>TCA391361142OCA2c.2023C>A (p.His675Asn)
c.1951C>A (p.His651Asn)
c.2047C>A (p.His683Asn)
c.1975C>A (p.His659Asn)
c.1909C>A (p.His637Asn)
c.1852C>A (p.His618Asn)
15g.27926184T>ACA488959282OCA2c.2022A>T (p.Leu674=)
c.1950A>T (p.Leu650=)
c.2046A>T (p.Leu682=)
c.1974A>T (p.Leu658=)
c.1908A>T (p.Leu636=)
c.1851A>T (p.Leu617=)
15g.27926184T>CCA7438792OCA2c.2022A>G (p.Leu674=)
c.1950A>G (p.Leu650=)
c.2046A>G (p.Leu682=)
c.1974A>G (p.Leu658=)
c.1908A>G (p.Leu636=)
c.1851A>G (p.Leu617=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926184T>GCA488959283OCA2c.2022A>C (p.Leu674=)
c.1950A>C (p.Leu650=)
c.2046A>C (p.Leu682=)
c.1974A>C (p.Leu658=)
c.1908A>C (p.Leu636=)
c.1851A>C (p.Leu617=)
15g.27926184T=CA2166365076OCA2c.2022A= (p.Leu674=)
c.1950A= (p.Leu650=)
c.2046A= (p.Leu682=)
c.1974A= (p.Leu658=)
c.1908A= (p.Leu636=)
c.1851A= (p.Leu617=)
15g.27926185A>CCA391361152OCA2c.2021T>G (p.Leu674Arg)
c.1949T>G (p.Leu650Arg)
c.2045T>G (p.Leu682Arg)
c.1973T>G (p.Leu658Arg)
c.1907T>G (p.Leu636Arg)
c.1850T>G (p.Leu617Arg)
15g.27926185A>GCA391361148OCA2c.2021T>C (p.Leu674Pro)
c.1949T>C (p.Leu650Pro)
c.2045T>C (p.Leu682Pro)
c.1973T>C (p.Leu658Pro)
c.1907T>C (p.Leu636Pro)
c.1850T>C (p.Leu617Pro)
15g.27926185A>TCA391361150OCA2c.2021T>A (p.Leu674Gln)
c.1949T>A (p.Leu650Gln)
c.2045T>A (p.Leu682Gln)
c.1973T>A (p.Leu658Gln)
c.1907T>A (p.Leu636Gln)
c.1850T>A (p.Leu617Gln)
gnomAD v4
15g.27926185dupCA2166365077OCA2c.2021dup (p.His675ThrfsTer?)
c.1949dup (p.His651ThrfsTer?)
c.2045dup (p.His683ThrfsTer?)
c.1973dup (p.His659ThrfsTer?)
c.1907dup (p.His637ThrfsTer?)
c.1850dup (p.His618ThrfsTer?)
dbSNP
15g.27926186G>ACA488959284OCA2c.2020C>T (p.Leu674=)
c.1948C>T (p.Leu650=)
c.2044C>T (p.Leu682=)
c.1972C>T (p.Leu658=)
c.1906C>T (p.Leu636=)
c.1849C>T (p.Leu617=)
15g.27926186G>CCA241133OCA2c.2020C>G (p.Leu674Val)
c.1948C>G (p.Leu650Val)
c.2044C>G (p.Leu682Val)
c.1972C>G (p.Leu658Val)
c.1906C>G (p.Leu636Val)
c.1849C>G (p.Leu617Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926186G=CA2166365078OCA2c.2020C= (p.Leu674=)
c.1948C= (p.Leu650=)
c.2044C= (p.Leu682=)
c.1972C= (p.Leu658=)
c.1906C= (p.Leu636=)
c.1849C= (p.Leu617=)
15g.27926186G>TCA391361154OCA2c.2020C>A (p.Leu674Ile)
c.1948C>A (p.Leu650Ile)
c.2044C>A (p.Leu682Ile)
c.1972C>A (p.Leu658Ile)
c.1906C>A (p.Leu636Ile)
c.1849C>A (p.Leu617Ile)
dbSNP gnomAD v3 gnomAD v4
15g.27926187A>CCA391361157OCA2c.2019T>G (p.Ile673Met)
c.1947T>G (p.Ile649Met)
c.2043T>G (p.Ile681Met)
c.1971T>G (p.Ile657Met)
c.1905T>G (p.Ile635Met)
c.1848T>G (p.Ile616Met)
15g.27926187A>GCA488959285OCA2c.2019T>C (p.Ile673=)
c.1947T>C (p.Ile649=)
c.2043T>C (p.Ile681=)
c.1971T>C (p.Ile657=)
c.1905T>C (p.Ile635=)
c.1848T>C (p.Ile616=)
15g.27926187A>TCA488959286OCA2c.2019T>A (p.Ile673=)
c.1947T>A (p.Ile649=)
c.2043T>A (p.Ile681=)
c.1971T>A (p.Ile657=)
c.1905T>A (p.Ile635=)
c.1848T>A (p.Ile616=)
15g.27926188A>CCA391361159OCA2c.2018T>G (p.Ile673Ser)
c.1946T>G (p.Ile649Ser)
c.2042T>G (p.Ile681Ser)
c.1970T>G (p.Ile657Ser)
c.1904T>G (p.Ile635Ser)
c.1847T>G (p.Ile616Ser)
15g.27926188A>GCA391361161OCA2c.2018T>C (p.Ile673Thr)
c.1946T>C (p.Ile649Thr)
c.2042T>C (p.Ile681Thr)
c.1970T>C (p.Ile657Thr)
c.1904T>C (p.Ile635Thr)
c.1847T>C (p.Ile616Thr)
15g.27926188A>TCA391361163OCA2c.2018T>A (p.Ile673Asn)
c.1946T>A (p.Ile649Asn)
c.2042T>A (p.Ile681Asn)
c.1970T>A (p.Ile657Asn)
c.1904T>A (p.Ile635Asn)
c.1847T>A (p.Ile616Asn)
ClinVar
15g.27926189T>ACA391361165OCA2c.2017A>T (p.Ile673Phe)
c.1945A>T (p.Ile649Phe)
c.2041A>T (p.Ile681Phe)
c.1969A>T (p.Ile657Phe)
c.1903A>T (p.Ile635Phe)
c.1846A>T (p.Ile616Phe)
15g.27926189T>CCA391361167OCA2c.2017A>G (p.Ile673Val)
c.1945A>G (p.Ile649Val)
c.2041A>G (p.Ile681Val)
c.1969A>G (p.Ile657Val)
c.1903A>G (p.Ile635Val)
c.1846A>G (p.Ile616Val)
dbSNP gnomAD v2 gnomAD v4
15g.27926189T>GCA391361169OCA2c.2017A>C (p.Ile673Leu)
c.1945A>C (p.Ile649Leu)
c.2041A>C (p.Ile681Leu)
c.1969A>C (p.Ile657Leu)
c.1903A>C (p.Ile635Leu)
c.1846A>C (p.Ile616Leu)
15g.27926189T=CA2166365079OCA2c.2017A= (p.Ile673=)
c.1945A= (p.Ile649=)
c.2041A= (p.Ile681=)
c.1969A= (p.Ile657=)
c.1903A= (p.Ile635=)
c.1846A= (p.Ile616=)
15g.27926190T>ACA488959287OCA2c.2016A>T (p.Ile672=)
c.1944A>T (p.Ile648=)
c.2040A>T (p.Ile680=)
c.1968A>T (p.Ile656=)
c.1902A>T (p.Ile634=)
c.1845A>T (p.Ile615=)
15g.27926190T>CCA391361171OCA2c.2016A>G (p.Ile672Met)
c.1944A>G (p.Ile648Met)
c.2040A>G (p.Ile680Met)
c.1968A>G (p.Ile656Met)
c.1902A>G (p.Ile634Met)
c.1845A>G (p.Ile615Met)
dbSNP gnomAD v4
15g.27926190T>GCA488959288OCA2c.2016A>C (p.Ile672=)
c.1944A>C (p.Ile648=)
c.2040A>C (p.Ile680=)
c.1968A>C (p.Ile656=)
c.1902A>C (p.Ile634=)
c.1845A>C (p.Ile615=)
15g.27926190T=CA2166365080OCA2c.2016A= (p.Ile672=)
c.1944A= (p.Ile648=)
c.2040A= (p.Ile680=)
c.1968A= (p.Ile656=)
c.1902A= (p.Ile634=)
c.1845A= (p.Ile615=)
15g.27926190_27926192delinsACA2695197229OCA2c.2014_2016delinsT (p.Ile672TyrfsTer?)
c.1942_1944delinsT (p.Ile648TyrfsTer?)
c.2038_2040delinsT (p.Ile680TyrfsTer?)
c.1966_1968delinsT (p.Ile656TyrfsTer?)
c.1900_1902delinsT (p.Ile634TyrfsTer?)
c.1843_1845delinsT (p.Ile615TyrfsTer?)
ClinVar
15g.27926191A>CCA391361181OCA2c.2015T>G (p.Ile672Arg)
c.1943T>G (p.Ile648Arg)
c.2039T>G (p.Ile680Arg)
c.1967T>G (p.Ile656Arg)
c.1901T>G (p.Ile634Arg)
c.1844T>G (p.Ile615Arg)
15g.27926191A>GCA391361177OCA2c.2015T>C (p.Ile672Thr)
c.1943T>C (p.Ile648Thr)
c.2039T>C (p.Ile680Thr)
c.1967T>C (p.Ile656Thr)
c.1901T>C (p.Ile634Thr)
c.1844T>C (p.Ile615Thr)
15g.27926191A>TCA391361179OCA2c.2015T>A (p.Ile672Lys)
c.1943T>A (p.Ile648Lys)
c.2039T>A (p.Ile680Lys)
c.1967T>A (p.Ile656Lys)
c.1901T>A (p.Ile634Lys)
c.1844T>A (p.Ile615Lys)
15g.27926192_27926196delCA2739278386OCA2c.2011_2015del (p.Glu671AsnfsTer?)
c.1939_1943del (p.Glu647AsnfsTer?)
c.2035_2039del (p.Glu679AsnfsTer?)
c.1963_1967del (p.Glu655AsnfsTer?)
c.1897_1901del (p.Glu633AsnfsTer?)
c.1840_1844del (p.Glu614AsnfsTer?)
ClinVar
15g.27926192T>ACA391361184OCA2c.2014A>T (p.Ile672Leu)
c.1942A>T (p.Ile648Leu)
c.2038A>T (p.Ile680Leu)
c.1966A>T (p.Ile656Leu)
c.1900A>T (p.Ile634Leu)
c.1843A>T (p.Ile615Leu)
15g.27926192T>CCA391361186OCA2c.2014A>G (p.Ile672Val)
c.1942A>G (p.Ile648Val)
c.2038A>G (p.Ile680Val)
c.1966A>G (p.Ile656Val)
c.1900A>G (p.Ile634Val)
c.1843A>G (p.Ile615Val)
dbSNP gnomAD v4
15g.27926192T>GCA391361188OCA2c.2014A>C (p.Ile672Leu)
c.1942A>C (p.Ile648Leu)
c.2038A>C (p.Ile680Leu)
c.1966A>C (p.Ile656Leu)
c.1900A>C (p.Ile634Leu)
c.1843A>C (p.Ile615Leu)
15g.27926192T=CA2166365081OCA2c.2014A= (p.Ile672=)
c.1942A= (p.Ile648=)
c.2038A= (p.Ile680=)
c.1966A= (p.Ile656=)
c.1900A= (p.Ile634=)
c.1843A= (p.Ile615=)
15g.27926193C>ACA391361190OCA2c.2013G>T (p.Glu671Asp)
c.1941G>T (p.Glu647Asp)
c.2037G>T (p.Glu679Asp)
c.1965G>T (p.Glu655Asp)
c.1899G>T (p.Glu633Asp)
c.1842G>T (p.Glu614Asp)
15g.27926193C>GCA391361192OCA2c.2013G>C (p.Glu671Asp)
c.1941G>C (p.Glu647Asp)
c.2037G>C (p.Glu679Asp)
c.1965G>C (p.Glu655Asp)
c.1899G>C (p.Glu633Asp)
c.1842G>C (p.Glu614Asp)
15g.27926193C>TCA488959290OCA2c.2013G>A (p.Glu671=)
c.1941G>A (p.Glu647=)
c.2037G>A (p.Glu679=)
c.1965G>A (p.Glu655=)
c.1899G>A (p.Glu633=)
c.1842G>A (p.Glu614=)
gnomAD v4
15g.27926194T>ACA277382OCA2c.2012A>T (p.Glu671Val)
c.1940A>T (p.Glu647Val)
c.2036A>T (p.Glu679Val)
c.1964A>T (p.Glu655Val)
c.1898A>T (p.Glu633Val)
c.1841A>T (p.Glu614Val)
ClinVar dbSNP
15g.27926194T>CCA391361195OCA2c.2012A>G (p.Glu671Gly)
c.1940A>G (p.Glu647Gly)
c.2036A>G (p.Glu679Gly)
c.1964A>G (p.Glu655Gly)
c.1898A>G (p.Glu633Gly)
c.1841A>G (p.Glu614Gly)
dbSNP gnomAD v2 gnomAD v4
15g.27926194T>GCA391361198OCA2c.2012A>C (p.Glu671Ala)
c.1940A>C (p.Glu647Ala)
c.2036A>C (p.Glu679Ala)
c.1964A>C (p.Glu655Ala)
c.1898A>C (p.Glu633Ala)
c.1841A>C (p.Glu614Ala)
gnomAD v4
15g.27926194T=CA2166365082OCA2c.2012A= (p.Glu671=)
c.1940A= (p.Glu647=)
c.2036A= (p.Glu679=)
c.1964A= (p.Glu655=)
c.1898A= (p.Glu633=)
c.1841A= (p.Glu614=)
15g.27926195C>ACA391361200OCA2c.2011G>T (p.Glu671Ter)
c.1939G>T (p.Glu647Ter)
c.2035G>T (p.Glu679Ter)
c.1963G>T (p.Glu655Ter)
c.1897G>T (p.Glu633Ter)
c.1840G>T (p.Glu614Ter)
15g.27926195C>GCA391361201OCA2c.2011G>C (p.Glu671Gln)
c.1939G>C (p.Glu647Gln)
c.2035G>C (p.Glu679Gln)
c.1963G>C (p.Glu655Gln)
c.1897G>C (p.Glu633Gln)
c.1840G>C (p.Glu614Gln)
15g.27926195C>TCA391361203OCA2c.2011G>A (p.Glu671Lys)
c.1939G>A (p.Glu647Lys)
c.2035G>A (p.Glu679Lys)
c.1963G>A (p.Glu655Lys)
c.1897G>A (p.Glu633Lys)
c.1840G>A (p.Glu614Lys)
gnomAD v4
15g.27926196A=CA2166365083OCA2c.2010T= (p.Phe670=)
c.1938T= (p.Phe646=)
c.2034T= (p.Phe678=)
c.1962T= (p.Phe654=)
c.1896T= (p.Phe632=)
c.1839T= (p.Phe613=)
15g.27926196A>CCA391361211OCA2c.2010T>G (p.Phe670Leu)
c.1938T>G (p.Phe646Leu)
c.2034T>G (p.Phe678Leu)
c.1962T>G (p.Phe654Leu)
c.1896T>G (p.Phe632Leu)
c.1839T>G (p.Phe613Leu)
15g.27926196A>GCA7438793OCA2c.2010T>C (p.Phe670=)
c.1938T>C (p.Phe646=)
c.2034T>C (p.Phe678=)
c.1962T>C (p.Phe654=)
c.1896T>C (p.Phe632=)
c.1839T>C (p.Phe613=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926196A>TCA391361207OCA2c.2010T>A (p.Phe670Leu)
c.1938T>A (p.Phe646Leu)
c.2034T>A (p.Phe678Leu)
c.1962T>A (p.Phe654Leu)
c.1896T>A (p.Phe632Leu)
c.1839T>A (p.Phe613Leu)
15g.27926197A>CCA391361213OCA2c.2009T>G (p.Phe670Cys)
c.1937T>G (p.Phe646Cys)
c.2033T>G (p.Phe678Cys)
c.1961T>G (p.Phe654Cys)
c.1895T>G (p.Phe632Cys)
c.1838T>G (p.Phe613Cys)
15g.27926197A>GCA391361215OCA2c.2009T>C (p.Phe670Ser)
c.1937T>C (p.Phe646Ser)
c.2033T>C (p.Phe678Ser)
c.1961T>C (p.Phe654Ser)
c.1895T>C (p.Phe632Ser)
c.1838T>C (p.Phe613Ser)
15g.27926197A>TCA391361217OCA2c.2009T>A (p.Phe670Tyr)
c.1937T>A (p.Phe646Tyr)
c.2033T>A (p.Phe678Tyr)
c.1961T>A (p.Phe654Tyr)
c.1895T>A (p.Phe632Tyr)
c.1838T>A (p.Phe613Tyr)
15g.27926198A>CCA391361219OCA2c.2008T>G (p.Phe670Val)
c.1936T>G (p.Phe646Val)
c.2032T>G (p.Phe678Val)
c.1960T>G (p.Phe654Val)
c.1894T>G (p.Phe632Val)
c.1837T>G (p.Phe613Val)
15g.27926198A>GCA391361220OCA2c.2008T>C (p.Phe670Leu)
c.1936T>C (p.Phe646Leu)
c.2032T>C (p.Phe678Leu)
c.1960T>C (p.Phe654Leu)
c.1894T>C (p.Phe632Leu)
c.1837T>C (p.Phe613Leu)
15g.27926198A>TCA391361221OCA2c.2008T>A (p.Phe670Ile)
c.1936T>A (p.Phe646Ile)
c.2032T>A (p.Phe678Ile)
c.1960T>A (p.Phe654Ile)
c.1894T>A (p.Phe632Ile)
c.1837T>A (p.Phe613Ile)
15g.27926199A>CCA391361222OCA2c.2007T>G (p.Asp669Glu)
c.1935T>G (p.Asp645Glu)
c.2031T>G (p.Asp677Glu)
c.1959T>G (p.Asp653Glu)
c.1893T>G (p.Asp631Glu)
c.1836T>G (p.Asp612Glu)
15g.27926199A>GCA488959291OCA2c.2007T>C (p.Asp669=)
c.1935T>C (p.Asp645=)
c.2031T>C (p.Asp677=)
c.1959T>C (p.Asp653=)
c.1893T>C (p.Asp631=)
c.1836T>C (p.Asp612=)
ClinVar gnomAD v4
15g.27926199A>TCA391361225OCA2c.2007T>A (p.Asp669Glu)
c.1935T>A (p.Asp645Glu)
c.2031T>A (p.Asp677Glu)
c.1959T>A (p.Asp653Glu)
c.1893T>A (p.Asp631Glu)
c.1836T>A (p.Asp612Glu)

Number of alleles fetched