Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74893202C>ACA393174404MPIc.552C>A (p.Ser184Arg)
c.487+400C>A (n.487+400C>A)
c.402C>A (p.Ser134Arg)
c.*448C>A (n.*448C>A)
c.492C>A (p.Ser164Arg)
c.255+1713C>A (n.255+1713C>A)
c.337+400C>A (n.337+400C>A)
c.510C>A (p.Ser170Arg)
c.448+400C>A (n.448+400C>A)
c.516C>A (p.Ser172Arg)
c.462C>A (p.Ser154Arg)
c.540C>A (p.Ser180Arg)
15g.74893202C=CA2187897266MPIc.552C= (p.Ser184=)
c.487+400C= (n.487+400C=)
c.402C= (p.Ser134=)
c.*448C= (n.*448C=)
c.492C= (p.Ser164=)
c.255+1713C= (n.255+1713C=)
c.337+400C= (n.337+400C=)
c.510C= (p.Ser170=)
c.448+400C= (n.448+400C=)
c.516C= (p.Ser172=)
c.462C= (p.Ser154=)
c.540C= (p.Ser180=)
15g.74893202C>GCA393174410MPIc.552C>G (p.Ser184Arg)
c.487+400C>G (n.487+400C>G)
c.402C>G (p.Ser134Arg)
c.*448C>G (n.*448C>G)
c.492C>G (p.Ser164Arg)
c.255+1713C>G (n.255+1713C>G)
c.337+400C>G (n.337+400C>G)
c.510C>G (p.Ser170Arg)
c.448+400C>G (n.448+400C>G)
c.516C>G (p.Ser172Arg)
c.462C>G (p.Ser154Arg)
c.540C>G (p.Ser180Arg)
 dbSNP gnomAD v3 gnomAD v4
15g.74893202C>TCA491491291MPIc.552C>T (p.Ser184=)
c.487+400C>T (n.487+400C>T)
c.402C>T (p.Ser134=)
c.*448C>T (n.*448C>T)
c.492C>T (p.Ser164=)
c.255+1713C>T (n.255+1713C>T)
c.337+400C>T (n.337+400C>T)
c.510C>T (p.Ser170=)
c.448+400C>T (n.448+400C>T)
c.516C>T (p.Ser172=)
c.462C>T (p.Ser154=)
c.540C>T (p.Ser180=)
15g.74893203C>ACA393174414MPIc.553C>A (p.His185Asn)
c.487+401C>A (n.487+401C>A)
c.403C>A (p.His135Asn)
c.*449C>A (n.*449C>A)
c.493C>A (p.His165Asn)
c.255+1714C>A (n.255+1714C>A)
c.337+401C>A (n.337+401C>A)
c.511C>A (p.His171Asn)
c.448+401C>A (n.448+401C>A)
c.517C>A (p.His173Asn)
c.463C>A (p.His155Asn)
c.541C>A (p.His181Asn)
15g.74893203C>GCA393174421MPIc.553C>G (p.His185Asp)
c.487+401C>G (n.487+401C>G)
c.403C>G (p.His135Asp)
c.*449C>G (n.*449C>G)
c.493C>G (p.His165Asp)
c.255+1714C>G (n.255+1714C>G)
c.337+401C>G (n.337+401C>G)
c.511C>G (p.His171Asp)
c.448+401C>G (n.448+401C>G)
c.517C>G (p.His173Asp)
c.463C>G (p.His155Asp)
c.541C>G (p.His181Asp)
15g.74893203C>TCA393174424MPIc.553C>T (p.His185Tyr)
c.487+401C>T (n.487+401C>T)
c.403C>T (p.His135Tyr)
c.*449C>T (n.*449C>T)
c.493C>T (p.His165Tyr)
c.255+1714C>T (n.255+1714C>T)
c.337+401C>T (n.337+401C>T)
c.511C>T (p.His171Tyr)
c.448+401C>T (n.448+401C>T)
c.517C>T (p.His173Tyr)
c.463C>T (p.His155Tyr)
c.541C>T (p.His181Tyr)
15g.74893204A>CCA393174427MPIc.554A>C (p.His185Pro)
c.487+402A>C (n.487+402A>C)
c.404A>C (p.His135Pro)
c.*450A>C (n.*450A>C)
c.494A>C (p.His165Pro)
c.255+1715A>C (n.255+1715A>C)
c.337+402A>C (n.337+402A>C)
c.512A>C (p.His171Pro)
c.448+402A>C (n.448+402A>C)
c.518A>C (p.His173Pro)
c.464A>C (p.His155Pro)
c.542A>C (p.His181Pro)
15g.74893204A>GCA393174429MPIc.554A>G (p.His185Arg)
c.487+402A>G (n.487+402A>G)
c.404A>G (p.His135Arg)
c.*450A>G (n.*450A>G)
c.494A>G (p.His165Arg)
c.255+1715A>G (n.255+1715A>G)
c.337+402A>G (n.337+402A>G)
c.512A>G (p.His171Arg)
c.448+402A>G (n.448+402A>G)
c.518A>G (p.His173Arg)
c.464A>G (p.His155Arg)
c.542A>G (p.His181Arg)
15g.74893204A>TCA393174431MPIc.554A>T (p.His185Leu)
c.487+402A>T (n.487+402A>T)
c.404A>T (p.His135Leu)
c.*450A>T (n.*450A>T)
c.494A>T (p.His165Leu)
c.255+1715A>T (n.255+1715A>T)
c.337+402A>T (n.337+402A>T)
c.512A>T (p.His171Leu)
c.448+402A>T (n.448+402A>T)
c.518A>T (p.His173Leu)
c.464A>T (p.His155Leu)
c.542A>T (p.His181Leu)
15g.74893205T>ACA393174434MPIc.555T>A (p.His185Gln)
c.487+403T>A (n.487+403T>A)
c.405T>A (p.His135Gln)
c.*451T>A (n.*451T>A)
c.495T>A (p.His165Gln)
c.255+1716T>A (n.255+1716T>A)
c.337+403T>A (n.337+403T>A)
c.513T>A (p.His171Gln)
c.448+403T>A (n.448+403T>A)
c.519T>A (p.His173Gln)
c.465T>A (p.His155Gln)
c.543T>A (p.His181Gln)
15g.74893205T>CCA16607142MPIc.555T>C (p.His185=)
c.487+403T>C (n.487+403T>C)
c.405T>C (p.His135=)
c.*451T>C (n.*451T>C)
c.495T>C (p.His165=)
c.255+1716T>C (n.255+1716T>C)
c.337+403T>C (n.337+403T>C)
c.513T>C (p.His171=)
c.448+403T>C (n.448+403T>C)
c.519T>C (p.His173=)
c.465T>C (p.His155=)
c.543T>C (p.His181=)
 ClinVar dbSNP
15g.74893205T>GCA393174437MPIc.555T>G (p.His185Gln)
c.487+403T>G (n.487+403T>G)
c.405T>G (p.His135Gln)
c.*451T>G (n.*451T>G)
c.495T>G (p.His165Gln)
c.255+1716T>G (n.255+1716T>G)
c.337+403T>G (n.337+403T>G)
c.513T>G (p.His171Gln)
c.448+403T>G (n.448+403T>G)
c.519T>G (p.His173Gln)
c.465T>G (p.His155Gln)
c.543T>G (p.His181Gln)
15g.74893205T=CA2187897269MPIc.555T= (p.His185=)
c.487+403T= (n.487+403T=)
c.405T= (p.His135=)
c.*451T= (n.*451T=)
c.495T= (p.His165=)
c.255+1716T= (n.255+1716T=)
c.337+403T= (n.337+403T=)
c.513T= (p.His171=)
c.448+403T= (n.448+403T=)
c.519T= (p.His173=)
c.465T= (p.His155=)
c.543T= (p.His181=)
15g.74893206G>ACA393174443MPIc.556G>A (p.Asp186Asn)
c.487+404G>A (n.487+404G>A)
c.406G>A (p.Asp136Asn)
c.*452G>A (n.*452G>A)
c.496G>A (p.Asp166Asn)
c.255+1717G>A (n.255+1717G>A)
c.337+404G>A (n.337+404G>A)
c.514G>A (p.Asp172Asn)
c.448+404G>A (n.448+404G>A)
c.520G>A (p.Asp174Asn)
c.466G>A (p.Asp156Asn)
c.544G>A (p.Asp182Asn)
 COSMIC
15g.74893206G>CCA393174446MPIc.556G>C (p.Asp186His)
c.487+404G>C (n.487+404G>C)
c.406G>C (p.Asp136His)
c.*452G>C (n.*452G>C)
c.496G>C (p.Asp166His)
c.255+1717G>C (n.255+1717G>C)
c.337+404G>C (n.337+404G>C)
c.514G>C (p.Asp172His)
c.448+404G>C (n.448+404G>C)
c.520G>C (p.Asp174His)
c.466G>C (p.Asp156His)
c.544G>C (p.Asp182His)
15g.74893206G=CA2187897271MPIc.556G= (p.Asp186=)
c.487+404G= (n.487+404G=)
c.406G= (p.Asp136=)
c.*452G= (n.*452G=)
c.496G= (p.Asp166=)
c.255+1717G= (n.255+1717G=)
c.337+404G= (n.337+404G=)
c.514G= (p.Asp172=)
c.448+404G= (n.448+404G=)
c.520G= (p.Asp174=)
c.466G= (p.Asp156=)
c.544G= (p.Asp182=)
15g.74893206G>TCA7662462MPIc.556G>T (p.Asp186Tyr)
c.487+404G>T (n.487+404G>T)
c.406G>T (p.Asp136Tyr)
c.*452G>T (n.*452G>T)
c.496G>T (p.Asp166Tyr)
c.255+1717G>T (n.255+1717G>T)
c.337+404G>T (n.337+404G>T)
c.514G>T (p.Asp172Tyr)
c.448+404G>T (n.448+404G>T)
c.520G>T (p.Asp174Tyr)
c.466G>T (p.Asp156Tyr)
c.544G>T (p.Asp182Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893207A>CCA393174449MPIc.557A>C (p.Asp186Ala)
c.487+405A>C (n.487+405A>C)
c.407A>C (p.Asp136Ala)
c.*453A>C (n.*453A>C)
c.497A>C (p.Asp166Ala)
c.255+1718A>C (n.255+1718A>C)
c.337+405A>C (n.337+405A>C)
c.515A>C (p.Asp172Ala)
c.448+405A>C (n.448+405A>C)
c.521A>C (p.Asp174Ala)
c.467A>C (p.Asp156Ala)
c.545A>C (p.Asp182Ala)
15g.74893207A>GCA393174455MPIc.557A>G (p.Asp186Gly)
c.487+405A>G (n.487+405A>G)
c.407A>G (p.Asp136Gly)
c.*453A>G (n.*453A>G)
c.497A>G (p.Asp166Gly)
c.255+1718A>G (n.255+1718A>G)
c.337+405A>G (n.337+405A>G)
c.515A>G (p.Asp172Gly)
c.448+405A>G (n.448+405A>G)
c.521A>G (p.Asp174Gly)
c.467A>G (p.Asp156Gly)
c.545A>G (p.Asp182Gly)
15g.74893207A>TCA393174452MPIc.557A>T (p.Asp186Val)
c.487+405A>T (n.487+405A>T)
c.407A>T (p.Asp136Val)
c.*453A>T (n.*453A>T)
c.497A>T (p.Asp166Val)
c.255+1718A>T (n.255+1718A>T)
c.337+405A>T (n.337+405A>T)
c.515A>T (p.Asp172Val)
c.448+405A>T (n.448+405A>T)
c.521A>T (p.Asp174Val)
c.467A>T (p.Asp156Val)
c.545A>T (p.Asp182Val)
15g.74893208C>ACA393174457MPIc.558C>A (p.Asp186Glu)
c.487+406C>A (n.487+406C>A)
c.408C>A (p.Asp136Glu)
c.*454C>A (n.*454C>A)
c.498C>A (p.Asp166Glu)
c.255+1719C>A (n.255+1719C>A)
c.337+406C>A (n.337+406C>A)
c.516C>A (p.Asp172Glu)
c.448+406C>A (n.448+406C>A)
c.522C>A (p.Asp174Glu)
c.468C>A (p.Asp156Glu)
c.546C>A (p.Asp182Glu)
 gnomAD v4
15g.74893208C>GCA393174459MPIc.558C>G (p.Asp186Glu)
c.487+406C>G (n.487+406C>G)
c.408C>G (p.Asp136Glu)
c.*454C>G (n.*454C>G)
c.498C>G (p.Asp166Glu)
c.255+1719C>G (n.255+1719C>G)
c.337+406C>G (n.337+406C>G)
c.516C>G (p.Asp172Glu)
c.448+406C>G (n.448+406C>G)
c.522C>G (p.Asp174Glu)
c.468C>G (p.Asp156Glu)
c.546C>G (p.Asp182Glu)
15g.74893208C>TCA491491292MPIc.558C>T (p.Asp186=)
c.487+406C>T (n.487+406C>T)
c.408C>T (p.Asp136=)
c.*454C>T (n.*454C>T)
c.498C>T (p.Asp166=)
c.255+1719C>T (n.255+1719C>T)
c.337+406C>T (n.337+406C>T)
c.516C>T (p.Asp172=)
c.448+406C>T (n.448+406C>T)
c.522C>T (p.Asp174=)
c.468C>T (p.Asp156=)
c.546C>T (p.Asp182=)
15g.74893209T>ACA393174462MPIc.559T>A (p.Ser187Thr)
c.487+407T>A (n.487+407T>A)
c.409T>A (p.Ser137Thr)
c.*455T>A (n.*455T>A)
c.499T>A (p.Ser167Thr)
c.255+1720T>A (n.255+1720T>A)
c.337+407T>A (n.337+407T>A)
c.517T>A (p.Ser173Thr)
c.448+407T>A (n.448+407T>A)
c.523T>A (p.Ser175Thr)
c.469T>A (p.Ser157Thr)
c.547T>A (p.Ser183Thr)
 dbSNP gnomAD v3 gnomAD v4
15g.74893209T>CCA393174465MPIc.559T>C (p.Ser187Pro)
c.487+407T>C (n.487+407T>C)
c.409T>C (p.Ser137Pro)
c.*455T>C (n.*455T>C)
c.499T>C (p.Ser167Pro)
c.255+1720T>C (n.255+1720T>C)
c.337+407T>C (n.337+407T>C)
c.517T>C (p.Ser173Pro)
c.448+407T>C (n.448+407T>C)
c.523T>C (p.Ser175Pro)
c.469T>C (p.Ser157Pro)
c.547T>C (p.Ser183Pro)
15g.74893209T>GCA393174468MPIc.559T>G (p.Ser187Ala)
c.487+407T>G (n.487+407T>G)
c.409T>G (p.Ser137Ala)
c.*455T>G (n.*455T>G)
c.499T>G (p.Ser167Ala)
c.255+1720T>G (n.255+1720T>G)
c.337+407T>G (n.337+407T>G)
c.517T>G (p.Ser173Ala)
c.448+407T>G (n.448+407T>G)
c.523T>G (p.Ser175Ala)
c.469T>G (p.Ser157Ala)
c.547T>G (p.Ser183Ala)
15g.74893209T=CA2187897273MPIc.559T= (p.Ser187=)
c.487+407T= (n.487+407T=)
c.409T= (p.Ser137=)
c.*455T= (n.*455T=)
c.499T= (p.Ser167=)
c.255+1720T= (n.255+1720T=)
c.337+407T= (n.337+407T=)
c.517T= (p.Ser173=)
c.448+407T= (n.448+407T=)
c.523T= (p.Ser175=)
c.469T= (p.Ser157=)
c.547T= (p.Ser183=)
15g.74893210C>ACA393174471MPIc.560C>A (p.Ser187Tyr)
c.487+408C>A (n.487+408C>A)
c.410C>A (p.Ser137Tyr)
c.*456C>A (n.*456C>A)
c.500C>A (p.Ser167Tyr)
c.255+1721C>A (n.255+1721C>A)
c.337+408C>A (n.337+408C>A)
c.518C>A (p.Ser173Tyr)
c.448+408C>A (n.448+408C>A)
c.524C>A (p.Ser175Tyr)
c.470C>A (p.Ser157Tyr)
c.548C>A (p.Ser183Tyr)
15g.74893210C=CA2187897275MPIc.560C= (p.Ser187=)
c.487+408C= (n.487+408C=)
c.410C= (p.Ser137=)
c.*456C= (n.*456C=)
c.500C= (p.Ser167=)
c.255+1721C= (n.255+1721C=)
c.337+408C= (n.337+408C=)
c.518C= (p.Ser173=)
c.448+408C= (n.448+408C=)
c.524C= (p.Ser175=)
c.470C= (p.Ser157=)
c.548C= (p.Ser183=)
15g.74893210C>GCA393174473MPIc.560C>G (p.Ser187Cys)
c.487+408C>G (n.487+408C>G)
c.410C>G (p.Ser137Cys)
c.*456C>G (n.*456C>G)
c.500C>G (p.Ser167Cys)
c.255+1721C>G (n.255+1721C>G)
c.337+408C>G (n.337+408C>G)
c.518C>G (p.Ser173Cys)
c.448+408C>G (n.448+408C>G)
c.524C>G (p.Ser175Cys)
c.470C>G (p.Ser157Cys)
c.548C>G (p.Ser183Cys)
15g.74893210C>TCA272823551MPIc.560C>T (p.Ser187Phe)
c.487+408C>T (n.487+408C>T)
c.410C>T (p.Ser137Phe)
c.*456C>T (n.*456C>T)
c.500C>T (p.Ser167Phe)
c.255+1721C>T (n.255+1721C>T)
c.337+408C>T (n.337+408C>T)
c.518C>T (p.Ser173Phe)
c.448+408C>T (n.448+408C>T)
c.524C>T (p.Ser175Phe)
c.470C>T (p.Ser157Phe)
c.548C>T (p.Ser183Phe)
 dbSNP gnomAD v4
15g.74893211C>ACA491491293MPIc.561C>A (p.Ser187=)
c.487+409C>A (n.487+409C>A)
c.411C>A (p.Ser137=)
c.*457C>A (n.*457C>A)
c.501C>A (p.Ser167=)
c.255+1722C>A (n.255+1722C>A)
c.337+409C>A (n.337+409C>A)
c.519C>A (p.Ser173=)
c.448+409C>A (n.448+409C>A)
c.525C>A (p.Ser175=)
c.471C>A (p.Ser157=)
c.549C>A (p.Ser183=)
15g.74893211C>GCA491491294MPIc.561C>G (p.Ser187=)
c.487+409C>G (n.487+409C>G)
c.411C>G (p.Ser137=)
c.*457C>G (n.*457C>G)
c.501C>G (p.Ser167=)
c.255+1722C>G (n.255+1722C>G)
c.337+409C>G (n.337+409C>G)
c.519C>G (p.Ser173=)
c.448+409C>G (n.448+409C>G)
c.525C>G (p.Ser175=)
c.471C>G (p.Ser157=)
c.549C>G (p.Ser183=)
15g.74893211C>TCA491491295MPIc.561C>T (p.Ser187=)
c.487+409C>T (n.487+409C>T)
c.411C>T (p.Ser137=)
c.*457C>T (n.*457C>T)
c.501C>T (p.Ser167=)
c.255+1722C>T (n.255+1722C>T)
c.337+409C>T (n.337+409C>T)
c.519C>T (p.Ser173=)
c.448+409C>T (n.448+409C>T)
c.525C>T (p.Ser175=)
c.471C>T (p.Ser157=)
c.549C>T (p.Ser183=)
15g.74893212C>ACA393174478MPIc.562C>A (p.Gln188Lys)
c.487+410C>A (n.487+410C>A)
c.412C>A (p.Gln138Lys)
c.*458C>A (n.*458C>A)
c.502C>A (p.Gln168Lys)
c.255+1723C>A (n.255+1723C>A)
c.337+410C>A (n.337+410C>A)
c.520C>A (p.Gln174Lys)
c.448+410C>A (n.448+410C>A)
c.526C>A (p.Gln176Lys)
c.472C>A (p.Gln158Lys)
c.550C>A (p.Gln184Lys)
15g.74893212C>GCA393174484MPIc.562C>G (p.Gln188Glu)
c.487+410C>G (n.487+410C>G)
c.412C>G (p.Gln138Glu)
c.*458C>G (n.*458C>G)
c.502C>G (p.Gln168Glu)
c.255+1723C>G (n.255+1723C>G)
c.337+410C>G (n.337+410C>G)
c.520C>G (p.Gln174Glu)
c.448+410C>G (n.448+410C>G)
c.526C>G (p.Gln176Glu)
c.472C>G (p.Gln158Glu)
c.550C>G (p.Gln184Glu)
15g.74893212C>TCA393174481MPIc.562C>T (p.Gln188Ter)
c.487+410C>T (n.487+410C>T)
c.412C>T (p.Gln138Ter)
c.*458C>T (n.*458C>T)
c.502C>T (p.Gln168Ter)
c.255+1723C>T (n.255+1723C>T)
c.337+410C>T (n.337+410C>T)
c.520C>T (p.Gln174Ter)
c.448+410C>T (n.448+410C>T)
c.526C>T (p.Gln176Ter)
c.472C>T (p.Gln158Ter)
c.550C>T (p.Gln184Ter)
15g.74893213A=CA2187897279MPIc.563A= (p.Gln188=)
c.487+411A= (n.487+411A=)
c.413A= (p.Gln138=)
c.*459A= (n.*459A=)
c.503A= (p.Gln168=)
c.255+1724A= (n.255+1724A=)
c.337+411A= (n.337+411A=)
c.521A= (p.Gln174=)
c.448+411A= (n.448+411A=)
c.527A= (p.Gln176=)
c.473A= (p.Gln158=)
c.551A= (p.Gln184=)
15g.74893213A>CCA393174487MPIc.563A>C (p.Gln188Pro)
c.487+411A>C (n.487+411A>C)
c.413A>C (p.Gln138Pro)
c.*459A>C (n.*459A>C)
c.503A>C (p.Gln168Pro)
c.255+1724A>C (n.255+1724A>C)
c.337+411A>C (n.337+411A>C)
c.521A>C (p.Gln174Pro)
c.448+411A>C (n.448+411A>C)
c.527A>C (p.Gln176Pro)
c.473A>C (p.Gln158Pro)
c.551A>C (p.Gln184Pro)
15g.74893213A>GCA7662463MPIc.563A>G (p.Gln188Arg)
c.487+411A>G (n.487+411A>G)
c.413A>G (p.Gln138Arg)
c.*459A>G (n.*459A>G)
c.503A>G (p.Gln168Arg)
c.255+1724A>G (n.255+1724A>G)
c.337+411A>G (n.337+411A>G)
c.521A>G (p.Gln174Arg)
c.448+411A>G (n.448+411A>G)
c.527A>G (p.Gln176Arg)
c.473A>G (p.Gln158Arg)
c.551A>G (p.Gln184Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893213A>TCA393174489MPIc.563A>T (p.Gln188Leu)
c.487+411A>T (n.487+411A>T)
c.413A>T (p.Gln138Leu)
c.*459A>T (n.*459A>T)
c.503A>T (p.Gln168Leu)
c.255+1724A>T (n.255+1724A>T)
c.337+411A>T (n.337+411A>T)
c.521A>T (p.Gln174Leu)
c.448+411A>T (n.448+411A>T)
c.527A>T (p.Gln176Leu)
c.473A>T (p.Gln158Leu)
c.551A>T (p.Gln184Leu)
15g.74893214G>ACA491491296MPIc.564G>A (p.Gln188=)
c.487+412G>A (n.487+412G>A)
c.414G>A (p.Gln138=)
c.*460G>A (n.*460G>A)
c.504G>A (p.Gln168=)
c.255+1725G>A (n.255+1725G>A)
c.337+412G>A (n.337+412G>A)
c.522G>A (p.Gln174=)
c.448+412G>A (n.448+412G>A)
c.528G>A (p.Gln176=)
c.474G>A (p.Gln158=)
c.552G>A (p.Gln184=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893214G>CCA393174490MPIc.564G>C (p.Gln188His)
c.487+412G>C (n.487+412G>C)
c.414G>C (p.Gln138His)
c.*460G>C (n.*460G>C)
c.504G>C (p.Gln168His)
c.255+1725G>C (n.255+1725G>C)
c.337+412G>C (n.337+412G>C)
c.522G>C (p.Gln174His)
c.448+412G>C (n.448+412G>C)
c.528G>C (p.Gln176His)
c.474G>C (p.Gln158His)
c.552G>C (p.Gln184His)
15g.74893214G=CA2187897280MPIc.564G= (p.Gln188=)
c.487+412G= (n.487+412G=)
c.414G= (p.Gln138=)
c.*460G= (n.*460G=)
c.504G= (p.Gln168=)
c.255+1725G= (n.255+1725G=)
c.337+412G= (n.337+412G=)
c.522G= (p.Gln174=)
c.448+412G= (n.448+412G=)
c.528G= (p.Gln176=)
c.474G= (p.Gln158=)
c.552G= (p.Gln184=)
15g.74893214G>TCA393174491MPIc.564G>T (p.Gln188His)
c.487+412G>T (n.487+412G>T)
c.414G>T (p.Gln138His)
c.*460G>T (n.*460G>T)
c.504G>T (p.Gln168His)
c.255+1725G>T (n.255+1725G>T)
c.337+412G>T (n.337+412G>T)
c.522G>T (p.Gln174His)
c.448+412G>T (n.448+412G>T)
c.528G>T (p.Gln176His)
c.474G>T (p.Gln158His)
c.552G>T (p.Gln184His)
15g.74893215G>ACA393174495MPIc.565G>A (p.Ala189Thr)
c.487+413G>A (n.487+413G>A)
c.415G>A (p.Ala139Thr)
c.*461G>A (n.*461G>A)
c.505G>A (p.Ala169Thr)
c.255+1726G>A (n.255+1726G>A)
c.337+413G>A (n.337+413G>A)
c.523G>A (p.Ala175Thr)
c.448+413G>A (n.448+413G>A)
c.529G>A (p.Ala177Thr)
c.475G>A (p.Ala159Thr)
c.553G>A (p.Ala185Thr)
15g.74893215G>CCA393174498MPIc.565G>C (p.Ala189Pro)
c.487+413G>C (n.487+413G>C)
c.415G>C (p.Ala139Pro)
c.*461G>C (n.*461G>C)
c.505G>C (p.Ala169Pro)
c.255+1726G>C (n.255+1726G>C)
c.337+413G>C (n.337+413G>C)
c.523G>C (p.Ala175Pro)
c.448+413G>C (n.448+413G>C)
c.529G>C (p.Ala177Pro)
c.475G>C (p.Ala159Pro)
c.553G>C (p.Ala185Pro)
15g.74893215G>TCA393174497MPIc.565G>T (p.Ala189Ser)
c.487+413G>T (n.487+413G>T)
c.415G>T (p.Ala139Ser)
c.*461G>T (n.*461G>T)
c.505G>T (p.Ala169Ser)
c.255+1726G>T (n.255+1726G>T)
c.337+413G>T (n.337+413G>T)
c.523G>T (p.Ala175Ser)
c.448+413G>T (n.448+413G>T)
c.529G>T (p.Ala177Ser)
c.475G>T (p.Ala159Ser)
c.553G>T (p.Ala185Ser)
15g.74893216C>ACA393174499MPIc.566C>A (p.Ala189Asp)
c.487+414C>A (n.487+414C>A)
c.416C>A (p.Ala139Asp)
c.*462C>A (n.*462C>A)
c.506C>A (p.Ala169Asp)
c.255+1727C>A (n.255+1727C>A)
c.337+414C>A (n.337+414C>A)
c.524C>A (p.Ala175Asp)
c.448+414C>A (n.448+414C>A)
c.530C>A (p.Ala177Asp)
c.476C>A (p.Ala159Asp)
c.554C>A (p.Ala185Asp)
15g.74893216C>GCA393174501MPIc.566C>G (p.Ala189Gly)
c.487+414C>G (n.487+414C>G)
c.416C>G (p.Ala139Gly)
c.*462C>G (n.*462C>G)
c.506C>G (p.Ala169Gly)
c.255+1727C>G (n.255+1727C>G)
c.337+414C>G (n.337+414C>G)
c.524C>G (p.Ala175Gly)
c.448+414C>G (n.448+414C>G)
c.530C>G (p.Ala177Gly)
c.476C>G (p.Ala159Gly)
c.554C>G (p.Ala185Gly)
15g.74893216C>TCA393174503MPIc.566C>T (p.Ala189Val)
c.487+414C>T (n.487+414C>T)
c.416C>T (p.Ala139Val)
c.*462C>T (n.*462C>T)
c.506C>T (p.Ala169Val)
c.255+1727C>T (n.255+1727C>T)
c.337+414C>T (n.337+414C>T)
c.524C>T (p.Ala175Val)
c.448+414C>T (n.448+414C>T)
c.530C>T (p.Ala177Val)
c.476C>T (p.Ala159Val)
c.554C>T (p.Ala185Val)
15g.74893217T>ACA491491299MPIc.567T>A (p.Ala189=)
c.487+415T>A (n.487+415T>A)
c.417T>A (p.Ala139=)
c.*463T>A (n.*463T>A)
c.507T>A (p.Ala169=)
c.255+1728T>A (n.255+1728T>A)
c.337+415T>A (n.337+415T>A)
c.525T>A (p.Ala175=)
c.448+415T>A (n.448+415T>A)
c.531T>A (p.Ala177=)
c.477T>A (p.Ala159=)
c.555T>A (p.Ala185=)
15g.74893217T>CCA491491298MPIc.567T>C (p.Ala189=)
c.487+415T>C (n.487+415T>C)
c.417T>C (p.Ala139=)
c.*463T>C (n.*463T>C)
c.507T>C (p.Ala169=)
c.255+1728T>C (n.255+1728T>C)
c.337+415T>C (n.337+415T>C)
c.525T>C (p.Ala175=)
c.448+415T>C (n.448+415T>C)
c.531T>C (p.Ala177=)
c.477T>C (p.Ala159=)
c.555T>C (p.Ala185=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893217T>GCA491491297MPIc.567T>G (p.Ala189=)
c.487+415T>G (n.487+415T>G)
c.417T>G (p.Ala139=)
c.*463T>G (n.*463T>G)
c.507T>G (p.Ala169=)
c.255+1728T>G (n.255+1728T>G)
c.337+415T>G (n.337+415T>G)
c.525T>G (p.Ala175=)
c.448+415T>G (n.448+415T>G)
c.531T>G (p.Ala177=)
c.477T>G (p.Ala159=)
c.555T>G (p.Ala185=)
15g.74893217T=CA2187897284MPIc.567T= (p.Ala189=)
c.487+415T= (n.487+415T=)
c.417T= (p.Ala139=)
c.*463T= (n.*463T=)
c.507T= (p.Ala169=)
c.255+1728T= (n.255+1728T=)
c.337+415T= (n.337+415T=)
c.525T= (p.Ala175=)
c.448+415T= (n.448+415T=)
c.531T= (p.Ala177=)
c.477T= (p.Ala159=)
c.555T= (p.Ala185=)
15g.74893218G>ACA393174505MPIc.568G>A (p.Val190Met)
c.487+416G>A (n.487+416G>A)
c.418G>A (p.Val140Met)
c.*464G>A (n.*464G>A)
c.508G>A (p.Val170Met)
c.255+1729G>A (n.255+1729G>A)
c.337+416G>A (n.337+416G>A)
c.526G>A
c.448+416G>A (n.448+416G>A)
c.532G>A (p.Val178Met)
c.478G>A (p.Val160Met)
c.556G>A (p.Val186Met)
15g.74893218G>CCA393174507MPIc.568G>C (p.Val190Leu)
c.487+416G>C (n.487+416G>C)
c.418G>C (p.Val140Leu)
c.*464G>C (n.*464G>C)
c.508G>C (p.Val170Leu)
c.255+1729G>C (n.255+1729G>C)
c.337+416G>C (n.337+416G>C)
c.526G>C
c.448+416G>C (n.448+416G>C)
c.532G>C (p.Val178Leu)
c.478G>C (p.Val160Leu)
c.556G>C (p.Val186Leu)
15g.74893218G>TCA393174509MPIc.568G>T (p.Val190Leu)
c.487+416G>T (n.487+416G>T)
c.418G>T (p.Val140Leu)
c.*464G>T (n.*464G>T)
c.508G>T (p.Val170Leu)
c.255+1729G>T (n.255+1729G>T)
c.337+416G>T (n.337+416G>T)
c.526G>T
c.448+416G>T (n.448+416G>T)
c.532G>T (p.Val178Leu)
c.478G>T (p.Val160Leu)
c.556G>T (p.Val186Leu)
15g.74893219T>ACA393174512MPIc.569T>A (p.Val190Glu)
c.487+417T>A (n.487+417T>A)
c.419T>A (p.Val140Glu)
c.*465T>A (n.*465T>A)
c.509T>A (p.Val170Glu)
c.255+1730T>A (n.255+1730T>A)
c.337+417T>A (n.337+417T>A)
c.527T>A
c.448+417T>A (n.448+417T>A)
c.533T>A (p.Val178Glu)
c.479T>A (p.Val160Glu)
c.557T>A (p.Val186Glu)
15g.74893219T>CCA393174514MPIc.569T>C (p.Val190Ala)
c.487+417T>C (n.487+417T>C)
c.419T>C (p.Val140Ala)
c.*465T>C (n.*465T>C)
c.509T>C (p.Val170Ala)
c.255+1730T>C (n.255+1730T>C)
c.337+417T>C (n.337+417T>C)
c.527T>C
c.448+417T>C (n.448+417T>C)
c.533T>C (p.Val178Ala)
c.479T>C (p.Val160Ala)
c.557T>C (p.Val186Ala)
15g.74893219T>GCA393174515MPIc.569T>G (p.Val190Gly)
c.487+417T>G (n.487+417T>G)
c.419T>G (p.Val140Gly)
c.*465T>G (n.*465T>G)
c.509T>G (p.Val170Gly)
c.255+1730T>G (n.255+1730T>G)
c.337+417T>G (n.337+417T>G)
c.527T>G
c.448+417T>G (n.448+417T>G)
c.533T>G (p.Val178Gly)
c.479T>G (p.Val160Gly)
c.557T>G (p.Val186Gly)
15g.74893220G>ACA491491300MPIc.570G>A (p.Val190=)
c.487+418G>A (n.487+418G>A)
c.420G>A (p.Val140=)
c.*466G>A (n.*466G>A)
c.510G>A (p.Val170=)
c.255+1731G>A (n.255+1731G>A)
c.337+418G>A (n.337+418G>A)
c.448+418G>A (n.448+418G>A)
c.534G>A (p.Val178=)
c.480G>A (p.Val160=)
c.558G>A (p.Val186=)
15g.74893220G>CCA491491301MPIc.570G>C (p.Val190=)
c.487+418G>C (n.487+418G>C)
c.420G>C (p.Val140=)
c.*466G>C (n.*466G>C)
c.510G>C (p.Val170=)
c.255+1731G>C (n.255+1731G>C)
c.337+418G>C (n.337+418G>C)
c.448+418G>C (n.448+418G>C)
c.534G>C (p.Val178=)
c.480G>C (p.Val160=)
c.558G>C (p.Val186=)
15g.74893220G>TCA491491302MPIc.570G>T (p.Val190=)
c.487+418G>T (n.487+418G>T)
c.420G>T (p.Val140=)
c.*466G>T (n.*466G>T)
c.510G>T (p.Val170=)
c.255+1731G>T (n.255+1731G>T)
c.337+418G>T (n.337+418G>T)
c.448+418G>T (n.448+418G>T)
c.534G>T (p.Val178=)
c.480G>T (p.Val160=)
c.558G>T (p.Val186=)
 gnomAD v4
15g.74893221G>ACA393174517MPIc.571G>A (p.Ala191Thr)
c.487+419G>A (n.487+419G>A)
c.421G>A (p.Ala141Thr)
c.*467G>A (n.*467G>A)
c.511G>A (p.Ala171Thr)
c.255+1732G>A (n.255+1732G>A)
c.337+419G>A (n.337+419G>A)
c.448+419G>A (n.448+419G>A)
c.535G>A (p.Ala179Thr)
c.481G>A (p.Ala161Thr)
c.559G>A (p.Ala187Thr)
15g.74893221G>CCA393174519MPIc.571G>C (p.Ala191Pro)
c.487+419G>C (n.487+419G>C)
c.421G>C (p.Ala141Pro)
c.*467G>C (n.*467G>C)
c.511G>C (p.Ala171Pro)
c.255+1732G>C (n.255+1732G>C)
c.337+419G>C (n.337+419G>C)
c.448+419G>C (n.448+419G>C)
c.535G>C (p.Ala179Pro)
c.481G>C (p.Ala161Pro)
c.559G>C (p.Ala187Pro)
15g.74893221G>TCA393174520MPIc.571G>T (p.Ala191Ser)
c.487+419G>T (n.487+419G>T)
c.421G>T (p.Ala141Ser)
c.*467G>T (n.*467G>T)
c.511G>T (p.Ala171Ser)
c.255+1732G>T (n.255+1732G>T)
c.337+419G>T (n.337+419G>T)
c.448+419G>T (n.448+419G>T)
c.535G>T (p.Ala179Ser)
c.481G>T (p.Ala161Ser)
c.559G>T (p.Ala187Ser)
15g.74893222C>ACA393174522MPIc.572C>A (p.Ala191Asp)
c.487+420C>A (n.487+420C>A)
c.422C>A (p.Ala141Asp)
c.*468C>A (n.*468C>A)
c.512C>A (p.Ala171Asp)
c.255+1733C>A (n.255+1733C>A)
c.337+420C>A (n.337+420C>A)
c.448+420C>A (n.448+420C>A)
c.536C>A (p.Ala179Asp)
c.482C>A (p.Ala161Asp)
c.560C>A (p.Ala187Asp)
15g.74893222C>GCA393174526MPIc.572C>G (p.Ala191Gly)
c.487+420C>G (n.487+420C>G)
c.422C>G (p.Ala141Gly)
c.*468C>G (n.*468C>G)
c.512C>G (p.Ala171Gly)
c.255+1733C>G (n.255+1733C>G)
c.337+420C>G (n.337+420C>G)
c.448+420C>G (n.448+420C>G)
c.536C>G (p.Ala179Gly)
c.482C>G (p.Ala161Gly)
c.560C>G (p.Ala187Gly)
15g.74893222C>TCA393174524MPIc.572C>T (p.Ala191Val)
c.487+420C>T (n.487+420C>T)
c.422C>T (p.Ala141Val)
c.*468C>T (n.*468C>T)
c.512C>T (p.Ala171Val)
c.255+1733C>T (n.255+1733C>T)
c.337+420C>T (n.337+420C>T)
c.448+420C>T (n.448+420C>T)
c.536C>T (p.Ala179Val)
c.482C>T (p.Ala161Val)
c.560C>T (p.Ala187Val)
15g.74893226_74893228delCA2629530441MPIc.576_578del (p.Ser193del)
c.487+424_487+426del (n.487+424_487+426del)
c.426_428del (p.Ser143del)
c.*472_*474del (n.*472_*474del)
c.516_518del (p.Ser173del)
c.255+1737_255+1739del (n.255+1737_255+1739del)
c.337+424_337+426del (n.337+424_337+426del)
c.448+424_448+426del (n.448+424_448+426del)
c.540_542del (p.Ser181del)
c.486_488del (p.Ser163del)
c.564_566del (p.Ser189del)
 gnomAD v4
15g.74893223C>ACA491491303MPIc.573C>A (p.Ala191=)
c.487+421C>A (n.487+421C>A)
c.423C>A (p.Ala141=)
c.*469C>A (n.*469C>A)
c.513C>A (p.Ala171=)
c.255+1734C>A (n.255+1734C>A)
c.337+421C>A (n.337+421C>A)
c.448+421C>A (n.448+421C>A)
c.537C>A (p.Ala179=)
c.483C>A (p.Ala161=)
c.561C>A (p.Ala187=)
15g.74893223C=CA2187897288MPIc.573C= (p.Ala191=)
c.487+421C= (n.487+421C=)
c.423C= (p.Ala141=)
c.*469C= (n.*469C=)
c.513C= (p.Ala171=)
c.255+1734C= (n.255+1734C=)
c.337+421C= (n.337+421C=)
c.448+421C= (n.448+421C=)
c.537C= (p.Ala179=)
c.483C= (p.Ala161=)
c.561C= (p.Ala187=)
15g.74893223C>GCA491491304MPIc.573C>G (p.Ala191=)
c.487+421C>G (n.487+421C>G)
c.423C>G (p.Ala141=)
c.*469C>G (n.*469C>G)
c.513C>G (p.Ala171=)
c.255+1734C>G (n.255+1734C>G)
c.337+421C>G (n.337+421C>G)
c.448+421C>G (n.448+421C>G)
c.537C>G (p.Ala179=)
c.483C>G (p.Ala161=)
c.561C>G (p.Ala187=)
15g.74893223C>TCA7662464MPIc.573C>T (p.Ala191=)
c.487+421C>T (n.487+421C>T)
c.423C>T (p.Ala141=)
c.*469C>T (n.*469C>T)
c.513C>T (p.Ala171=)
c.255+1734C>T (n.255+1734C>T)
c.337+421C>T (n.337+421C>T)
c.448+421C>T (n.448+421C>T)
c.537C>T (p.Ala179=)
c.483C>T (p.Ala161=)
c.561C>T (p.Ala187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893224T>ACA393174529MPIc.574T>A (p.Ser192Thr)
c.487+422T>A (n.487+422T>A)
c.424T>A (p.Ser142Thr)
c.*470T>A (n.*470T>A)
c.514T>A (p.Ser172Thr)
c.255+1735T>A (n.255+1735T>A)
c.337+422T>A (n.337+422T>A)
c.448+422T>A (n.448+422T>A)
c.538T>A (p.Ser180Thr)
c.484T>A (p.Ser162Thr)
c.562T>A (p.Ser188Thr)
15g.74893224T>CCA393174531MPIc.574T>C (p.Ser192Pro)
c.487+422T>C (n.487+422T>C)
c.424T>C (p.Ser142Pro)
c.*470T>C (n.*470T>C)
c.514T>C (p.Ser172Pro)
c.255+1735T>C (n.255+1735T>C)
c.337+422T>C (n.337+422T>C)
c.448+422T>C (n.448+422T>C)
c.538T>C (p.Ser180Pro)
c.484T>C (p.Ser162Pro)
c.562T>C (p.Ser188Pro)
 gnomAD v4
15g.74893224T>GCA393174533MPIc.574T>G (p.Ser192Ala)
c.487+422T>G (n.487+422T>G)
c.424T>G (p.Ser142Ala)
c.*470T>G (n.*470T>G)
c.514T>G (p.Ser172Ala)
c.255+1735T>G (n.255+1735T>G)
c.337+422T>G (n.337+422T>G)
c.448+422T>G (n.448+422T>G)
c.538T>G (p.Ser180Ala)
c.484T>G (p.Ser162Ala)
c.562T>G (p.Ser188Ala)
15g.74893225C>ACA393174535MPIc.575C>A (p.Ser192Tyr)
c.487+423C>A (n.487+423C>A)
c.425C>A (p.Ser142Tyr)
c.*471C>A (n.*471C>A)
c.515C>A (p.Ser172Tyr)
c.255+1736C>A (n.255+1736C>A)
c.337+423C>A (n.337+423C>A)
c.448+423C>A (n.448+423C>A)
c.539C>A (p.Ser180Tyr)
c.485C>A (p.Ser162Tyr)
c.563C>A (p.Ser188Tyr)
15g.74893225C>GCA393174537MPIc.575C>G (p.Ser192Cys)
c.487+423C>G (n.487+423C>G)
c.425C>G (p.Ser142Cys)
c.*471C>G (n.*471C>G)
c.515C>G (p.Ser172Cys)
c.255+1736C>G (n.255+1736C>G)
c.337+423C>G (n.337+423C>G)
c.448+423C>G (n.448+423C>G)
c.539C>G (p.Ser180Cys)
c.485C>G (p.Ser162Cys)
c.563C>G (p.Ser188Cys)
15g.74893225C>TCA393174539MPIc.575C>T (p.Ser192Phe)
c.487+423C>T (n.487+423C>T)
c.425C>T (p.Ser142Phe)
c.*471C>T (n.*471C>T)
c.515C>T (p.Ser172Phe)
c.255+1736C>T (n.255+1736C>T)
c.337+423C>T (n.337+423C>T)
c.448+423C>T (n.448+423C>T)
c.539C>T (p.Ser180Phe)
c.485C>T (p.Ser162Phe)
c.563C>T (p.Ser188Phe)
15g.74893226C>ACA491491305MPIc.576C>A (p.Ser192=)
c.487+424C>A (n.487+424C>A)
c.426C>A (p.Ser142=)
c.*472C>A (n.*472C>A)
c.516C>A (p.Ser172=)
c.255+1737C>A (n.255+1737C>A)
c.337+424C>A (n.337+424C>A)
c.448+424C>A (n.448+424C>A)
c.540C>A (p.Ser180=)
c.486C>A (p.Ser162=)
c.564C>A (p.Ser188=)
15g.74893226C=CA2187897292MPIc.576C= (p.Ser192=)
c.487+424C= (n.487+424C=)
c.426C= (p.Ser142=)
c.*472C= (n.*472C=)
c.516C= (p.Ser172=)
c.255+1737C= (n.255+1737C=)
c.337+424C= (n.337+424C=)
c.448+424C= (n.448+424C=)
c.540C= (p.Ser180=)
c.486C= (p.Ser162=)
c.564C= (p.Ser188=)
15g.74893226C>GCA491491306MPIc.576C>G (p.Ser192=)
c.487+424C>G (n.487+424C>G)
c.426C>G (p.Ser142=)
c.*472C>G (n.*472C>G)
c.516C>G (p.Ser172=)
c.255+1737C>G (n.255+1737C>G)
c.337+424C>G (n.337+424C>G)
c.448+424C>G (n.448+424C>G)
c.540C>G (p.Ser180=)
c.486C>G (p.Ser162=)
c.564C>G (p.Ser188=)
 ClinVar
15g.74893226C>TCA246057MPIc.576C>T (p.Ser192=)
c.487+424C>T (n.487+424C>T)
c.426C>T (p.Ser142=)
c.*472C>T (n.*472C>T)
c.516C>T (p.Ser172=)
c.255+1737C>T (n.255+1737C>T)
c.337+424C>T (n.337+424C>T)
c.448+424C>T (n.448+424C>T)
c.540C>T (p.Ser180=)
c.486C>T (p.Ser162=)
c.564C>T (p.Ser188=)
 ClinVar dbSNP
15g.74893227T>ACA272823563MPIc.577T>A (p.Ser193Thr)
c.487+425T>A (n.487+425T>A)
c.427T>A (p.Ser143Thr)
c.*473T>A (n.*473T>A)
c.517T>A (p.Ser173Thr)
c.255+1738T>A (n.255+1738T>A)
c.337+425T>A (n.337+425T>A)
c.448+425T>A (n.448+425T>A)
c.541T>A (p.Ser181Thr)
c.487T>A (p.Ser163Thr)
c.565T>A (p.Ser189Thr)
 dbSNP gnomAD v3 gnomAD v4
15g.74893227T>CCA393174543MPIc.577T>C (p.Ser193Pro)
c.487+425T>C (n.487+425T>C)
c.427T>C (p.Ser143Pro)
c.*473T>C (n.*473T>C)
c.517T>C (p.Ser173Pro)
c.255+1738T>C (n.255+1738T>C)
c.337+425T>C (n.337+425T>C)
c.448+425T>C (n.448+425T>C)
c.541T>C (p.Ser181Pro)
c.487T>C (p.Ser163Pro)
c.565T>C (p.Ser189Pro)
15g.74893227T>GCA393174545MPIc.577T>G (p.Ser193Ala)
c.487+425T>G (n.487+425T>G)
c.427T>G (p.Ser143Ala)
c.*473T>G (n.*473T>G)
c.517T>G (p.Ser173Ala)
c.255+1738T>G (n.255+1738T>G)
c.337+425T>G (n.337+425T>G)
c.448+425T>G (n.448+425T>G)
c.541T>G (p.Ser181Ala)
c.487T>G (p.Ser163Ala)
c.565T>G (p.Ser189Ala)
15g.74893227T=CA2187897298MPIc.577T= (p.Ser193=)
c.487+425T= (n.487+425T=)
c.427T= (p.Ser143=)
c.*473T= (n.*473T=)
c.517T= (p.Ser173=)
c.255+1738T= (n.255+1738T=)
c.337+425T= (n.337+425T=)
c.448+425T= (n.448+425T=)
c.541T= (p.Ser181=)
c.487T= (p.Ser163=)
c.565T= (p.Ser189=)
15g.74893228C>ACA393174546MPIc.578C>A (p.Ser193Tyr)
c.487+426C>A (n.487+426C>A)
c.428C>A (p.Ser143Tyr)
c.*474C>A (n.*474C>A)
c.518C>A (p.Ser173Tyr)
c.255+1739C>A (n.255+1739C>A)
c.337+426C>A (n.337+426C>A)
c.448+426C>A (n.448+426C>A)
c.542C>A (p.Ser181Tyr)
c.488C>A (p.Ser163Tyr)
c.566C>A (p.Ser189Tyr)
15g.74893228C>GCA393174548MPIc.578C>G (p.Ser193Cys)
c.487+426C>G (n.487+426C>G)
c.428C>G (p.Ser143Cys)
c.*474C>G (n.*474C>G)
c.518C>G (p.Ser173Cys)
c.255+1739C>G (n.255+1739C>G)
c.337+426C>G (n.337+426C>G)
c.448+426C>G (n.448+426C>G)
c.542C>G (p.Ser181Cys)
c.488C>G (p.Ser163Cys)
c.566C>G (p.Ser189Cys)
15g.74893228C>TCA393174550MPIc.578C>T (p.Ser193Phe)
c.487+426C>T (n.487+426C>T)
c.428C>T (p.Ser143Phe)
c.*474C>T (n.*474C>T)
c.518C>T (p.Ser173Phe)
c.255+1739C>T (n.255+1739C>T)
c.337+426C>T (n.337+426C>T)
c.448+426C>T (n.448+426C>T)
c.542C>T (p.Ser181Phe)
c.488C>T (p.Ser163Phe)
c.566C>T (p.Ser189Phe)
15g.74893229T>ACA491491307MPIc.579T>A (p.Ser193=)
c.487+427T>A (n.487+427T>A)
c.429T>A (p.Ser143=)
c.*475T>A (n.*475T>A)
c.519T>A (p.Ser173=)
c.255+1740T>A (n.255+1740T>A)
c.337+427T>A (n.337+427T>A)
c.448+427T>A (n.448+427T>A)
c.543T>A (p.Ser181=)
c.489T>A (p.Ser163=)
c.567T>A (p.Ser189=)
15g.74893229T>CCA491491308MPIc.579T>C (p.Ser193=)
c.487+427T>C (n.487+427T>C)
c.429T>C (p.Ser143=)
c.*475T>C (n.*475T>C)
c.519T>C (p.Ser173=)
c.255+1740T>C (n.255+1740T>C)
c.337+427T>C (n.337+427T>C)
c.448+427T>C (n.448+427T>C)
c.543T>C (p.Ser181=)
c.489T>C (p.Ser163=)
c.567T>C (p.Ser189=)
15g.74893229T>GCA491491309MPIc.579T>G (p.Ser193=)
c.487+427T>G (n.487+427T>G)
c.429T>G (p.Ser143=)
c.*475T>G (n.*475T>G)
c.519T>G (p.Ser173=)
c.255+1740T>G (n.255+1740T>G)
c.337+427T>G (n.337+427T>G)
c.448+427T>G (n.448+427T>G)
c.543T>G (p.Ser181=)
c.489T>G (p.Ser163=)
c.567T>G (p.Ser189=)
15g.74893230C>ACA393174552MPIc.580C>A (p.Leu194Met)
c.487+428C>A (n.487+428C>A)
c.430C>A (p.Leu144Met)
c.*476C>A (n.*476C>A)
c.520C>A (p.Leu174Met)
c.255+1741C>A (n.255+1741C>A)
c.337+428C>A (n.337+428C>A)
c.520C>A
c.448+428C>A (n.448+428C>A)
c.544C>A (p.Leu182Met)
c.490C>A (p.Leu164Met)
c.568C>A (p.Leu190Met)
15g.74893230C=CA2187897300MPIc.580C= (p.Leu194=)
c.487+428C= (n.487+428C=)
c.430C= (p.Leu144=)
c.*476C= (n.*476C=)
c.520C= (p.Leu174=)
c.255+1741C= (n.255+1741C=)
c.337+428C= (n.337+428C=)
c.520C=
c.448+428C= (n.448+428C=)
c.544C= (p.Leu182=)
c.490C= (p.Leu164=)
c.568C= (p.Leu190=)
15g.74893230C>GCA393174554MPIc.580C>G (p.Leu194Val)
c.487+428C>G (n.487+428C>G)
c.430C>G (p.Leu144Val)
c.*476C>G (n.*476C>G)
c.520C>G (p.Leu174Val)
c.255+1741C>G (n.255+1741C>G)
c.337+428C>G (n.337+428C>G)
c.520C>G
c.448+428C>G (n.448+428C>G)
c.544C>G (p.Leu182Val)
c.490C>G (p.Leu164Val)
c.568C>G (p.Leu190Val)
15g.74893230C>TCA491491310MPIc.580C>T (p.Leu194=)
c.487+428C>T (n.487+428C>T)
c.430C>T (p.Leu144=)
c.*476C>T (n.*476C>T)
c.520C>T (p.Leu174=)
c.255+1741C>T (n.255+1741C>T)
c.337+428C>T (n.337+428C>T)
c.520C>T
c.448+428C>T (n.448+428C>T)
c.544C>T (p.Leu182=)
c.490C>T (p.Leu164=)
c.568C>T (p.Leu190=)
 dbSNP gnomAD v2 gnomAD v4
15g.74893231T>ACA393174556MPIc.581T>A (p.Leu194Gln)
c.487+429T>A (n.487+429T>A)
c.431T>A (p.Leu144Gln)
c.*477T>A (n.*477T>A)
c.521T>A (p.Leu174Gln)
c.255+1742T>A (n.255+1742T>A)
c.337+429T>A (n.337+429T>A)
c.448+429T>A (n.448+429T>A)
c.545T>A (p.Leu182Gln)
c.491T>A (p.Leu164Gln)
c.569T>A (p.Leu190Gln)
15g.74893231T>CCA393174558MPIc.581T>C (p.Leu194Pro)
c.487+429T>C (n.487+429T>C)
c.431T>C (p.Leu144Pro)
c.*477T>C (n.*477T>C)
c.521T>C (p.Leu174Pro)
c.255+1742T>C (n.255+1742T>C)
c.337+429T>C (n.337+429T>C)
c.448+429T>C (n.448+429T>C)
c.545T>C (p.Leu182Pro)
c.491T>C (p.Leu164Pro)
c.569T>C (p.Leu190Pro)
 gnomAD v4
15g.74893231T>GCA393174560MPIc.581T>G (p.Leu194Arg)
c.487+429T>G (n.487+429T>G)
c.431T>G (p.Leu144Arg)
c.*477T>G (n.*477T>G)
c.521T>G (p.Leu174Arg)
c.255+1742T>G (n.255+1742T>G)
c.337+429T>G (n.337+429T>G)
c.448+429T>G (n.448+429T>G)
c.545T>G (p.Leu182Arg)
c.491T>G (p.Leu164Arg)
c.569T>G (p.Leu190Arg)
15g.74893232G>ACA491491313MPIc.582G>A (p.Leu194=)
c.487+430G>A (n.487+430G>A)
c.432G>A (p.Leu144=)
c.*478G>A (n.*478G>A)
c.522G>A (p.Leu174=)
c.255+1743G>A (n.255+1743G>A)
c.337+430G>A (n.337+430G>A)
c.448+430G>A (n.448+430G>A)
c.546G>A (p.Leu182=)
c.492G>A (p.Leu164=)
c.570G>A (p.Leu190=)
15g.74893232G>CCA491491312MPIc.582G>C (p.Leu194=)
c.487+430G>C (n.487+430G>C)
c.432G>C (p.Leu144=)
c.*478G>C (n.*478G>C)
c.522G>C (p.Leu174=)
c.255+1743G>C (n.255+1743G>C)
c.337+430G>C (n.337+430G>C)
c.448+430G>C (n.448+430G>C)
c.546G>C (p.Leu182=)
c.492G>C (p.Leu164=)
c.570G>C (p.Leu190=)
15g.74893232G>TCA491491311MPIc.582G>T (p.Leu194=)
c.487+430G>T (n.487+430G>T)
c.432G>T (p.Leu144=)
c.*478G>T (n.*478G>T)
c.522G>T (p.Leu174=)
c.255+1743G>T (n.255+1743G>T)
c.337+430G>T (n.337+430G>T)
c.448+430G>T (n.448+430G>T)
c.546G>T (p.Leu182=)
c.492G>T (p.Leu164=)
c.570G>T (p.Leu190=)
15g.74893233C>ACA393174561MPIc.583C>A (p.Gln195Lys)
c.487+431C>A (n.487+431C>A)
c.433C>A (p.Gln145Lys)
c.*479C>A (n.*479C>A)
c.523C>A (p.Gln175Lys)
c.255+1744C>A (n.255+1744C>A)
c.337+431C>A (n.337+431C>A)
c.448+431C>A (n.448+431C>A)
c.547C>A (p.Gln183Lys)
c.493C>A (p.Gln165Lys)
c.571C>A (p.Gln191Lys)
15g.74893233C>GCA393174563MPIc.583C>G (p.Gln195Glu)
c.487+431C>G (n.487+431C>G)
c.433C>G (p.Gln145Glu)
c.*479C>G (n.*479C>G)
c.523C>G (p.Gln175Glu)
c.255+1744C>G (n.255+1744C>G)
c.337+431C>G (n.337+431C>G)
c.448+431C>G (n.448+431C>G)
c.547C>G (p.Gln183Glu)
c.493C>G (p.Gln165Glu)
c.571C>G (p.Gln191Glu)
15g.74893233C>TCA393174565MPIc.583C>T (p.Gln195Ter)
c.487+431C>T (n.487+431C>T)
c.433C>T (p.Gln145Ter)
c.*479C>T (n.*479C>T)
c.523C>T (p.Gln175Ter)
c.255+1744C>T (n.255+1744C>T)
c.337+431C>T (n.337+431C>T)
c.448+431C>T (n.448+431C>T)
c.547C>T (p.Gln183Ter)
c.493C>T (p.Gln165Ter)
c.571C>T (p.Gln191Ter)
 gnomAD v4
15g.74893234A>CCA393174567MPIc.584A>C (p.Gln195Pro)
c.487+432A>C (n.487+432A>C)
c.434A>C (p.Gln145Pro)
c.*480A>C (n.*480A>C)
c.524A>C (p.Gln175Pro)
c.255+1745A>C (n.255+1745A>C)
c.337+432A>C (n.337+432A>C)
c.448+432A>C (n.448+432A>C)
c.548A>C (p.Gln183Pro)
c.494A>C (p.Gln165Pro)
c.572A>C (p.Gln191Pro)
15g.74893234A>GCA393174569MPIc.584A>G (p.Gln195Arg)
c.487+432A>G (n.487+432A>G)
c.434A>G (p.Gln145Arg)
c.*480A>G (n.*480A>G)
c.524A>G (p.Gln175Arg)
c.255+1745A>G (n.255+1745A>G)
c.337+432A>G (n.337+432A>G)
c.448+432A>G (n.448+432A>G)
c.548A>G (p.Gln183Arg)
c.494A>G (p.Gln165Arg)
c.572A>G (p.Gln191Arg)
15g.74893234A>TCA393174571MPIc.584A>T (p.Gln195Leu)
c.487+432A>T (n.487+432A>T)
c.434A>T (p.Gln145Leu)
c.*480A>T (n.*480A>T)
c.524A>T (p.Gln175Leu)
c.255+1745A>T (n.255+1745A>T)
c.337+432A>T (n.337+432A>T)
c.448+432A>T (n.448+432A>T)
c.548A>T (p.Gln183Leu)
c.494A>T (p.Gln165Leu)
c.572A>T (p.Gln191Leu)
15g.74893235G>ACA491491314MPIc.585G>A (p.Gln195=)
c.487+433G>A (n.487+433G>A)
c.435G>A (p.Gln145=)
c.*481G>A (n.*481G>A)
c.525G>A (p.Gln175=)
c.255+1746G>A (n.255+1746G>A)
c.337+433G>A (n.337+433G>A)
c.448+433G>A (n.448+433G>A)
c.549G>A (p.Gln183=)
c.495G>A (p.Gln165=)
c.573G>A (p.Gln191=)
15g.74893235G>CCA393174573MPIc.585G>C (p.Gln195His)
c.487+433G>C (n.487+433G>C)
c.435G>C (p.Gln145His)
c.*481G>C (n.*481G>C)
c.525G>C (p.Gln175His)
c.255+1746G>C (n.255+1746G>C)
c.337+433G>C (n.337+433G>C)
c.448+433G>C (n.448+433G>C)
c.549G>C (p.Gln183His)
c.495G>C (p.Gln165His)
c.573G>C (p.Gln191His)
15g.74893235G>TCA393174575MPIc.585G>T (p.Gln195His)
c.487+433G>T (n.487+433G>T)
c.435G>T (p.Gln145His)
c.*481G>T (n.*481G>T)
c.525G>T (p.Gln175His)
c.255+1746G>T (n.255+1746G>T)
c.337+433G>T (n.337+433G>T)
c.448+433G>T (n.448+433G>T)
c.549G>T (p.Gln183His)
c.495G>T (p.Gln165His)
c.573G>T (p.Gln191His)
15g.74893236A>CCA393174577MPIc.586A>C (p.Ser196Arg)
c.487+434A>C (n.487+434A>C)
c.436A>C (p.Ser146Arg)
c.*482A>C (n.*482A>C)
c.526A>C (p.Ser176Arg)
c.255+1747A>C (n.255+1747A>C)
c.337+434A>C (n.337+434A>C)
c.448+434A>C (n.448+434A>C)
c.550A>C (p.Ser184Arg)
c.496A>C (p.Ser166Arg)
c.574A>C (p.Ser192Arg)
15g.74893236A>GCA393174581MPIc.586A>G (p.Ser196Gly)
c.487+434A>G (n.487+434A>G)
c.436A>G (p.Ser146Gly)
c.*482A>G (n.*482A>G)
c.526A>G (p.Ser176Gly)
c.255+1747A>G (n.255+1747A>G)
c.337+434A>G (n.337+434A>G)
c.448+434A>G (n.448+434A>G)
c.550A>G (p.Ser184Gly)
c.496A>G (p.Ser166Gly)
c.574A>G (p.Ser192Gly)
15g.74893236A>TCA393174579MPIc.586A>T (p.Ser196Cys)
c.487+434A>T (n.487+434A>T)
c.436A>T (p.Ser146Cys)
c.*482A>T (n.*482A>T)
c.526A>T (p.Ser176Cys)
c.255+1747A>T (n.255+1747A>T)
c.337+434A>T (n.337+434A>T)
c.448+434A>T (n.448+434A>T)
c.550A>T (p.Ser184Cys)
c.496A>T (p.Ser166Cys)
c.574A>T (p.Ser192Cys)
15g.74893237G>ACA7662465MPIc.587G>A (p.Ser196Asn)
c.487+435G>A (n.487+435G>A)
c.437G>A (p.Ser146Asn)
c.*483G>A (n.*483G>A)
c.527G>A (p.Ser176Asn)
c.255+1748G>A (n.255+1748G>A)
c.337+435G>A (n.337+435G>A)
c.448+435G>A (n.448+435G>A)
c.551G>A (p.Ser184Asn)
c.497G>A (p.Ser166Asn)
c.575G>A (p.Ser192Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893237G>CCA393174586MPIc.587G>C (p.Ser196Thr)
c.487+435G>C (n.487+435G>C)
c.437G>C (p.Ser146Thr)
c.*483G>C (n.*483G>C)
c.527G>C (p.Ser176Thr)
c.255+1748G>C (n.255+1748G>C)
c.337+435G>C (n.337+435G>C)
c.448+435G>C (n.448+435G>C)
c.551G>C (p.Ser184Thr)
c.497G>C (p.Ser166Thr)
c.575G>C (p.Ser192Thr)
15g.74893237G=CA2187897303MPIc.587G= (p.Ser196=)
c.487+435G= (n.487+435G=)
c.437G= (p.Ser146=)
c.*483G= (n.*483G=)
c.527G= (p.Ser176=)
c.255+1748G= (n.255+1748G=)
c.337+435G= (n.337+435G=)
c.448+435G= (n.448+435G=)
c.551G= (p.Ser184=)
c.497G= (p.Ser166=)
c.575G= (p.Ser192=)
15g.74893237G>TCA393174584MPIc.587G>T (p.Ser196Ile)
c.487+435G>T (n.487+435G>T)
c.437G>T (p.Ser146Ile)
c.*483G>T (n.*483G>T)
c.527G>T (p.Ser176Ile)
c.255+1748G>T (n.255+1748G>T)
c.337+435G>T (n.337+435G>T)
c.448+435G>T (n.448+435G>T)
c.551G>T (p.Ser184Ile)
c.497G>T (p.Ser166Ile)
c.575G>T (p.Ser192Ile)
15g.74893238C>ACA393174588MPIc.588C>A (p.Ser196Arg)
c.487+436C>A (n.487+436C>A)
c.438C>A (p.Ser146Arg)
c.*484C>A (n.*484C>A)
c.528C>A (p.Ser176Arg)
c.255+1749C>A (n.255+1749C>A)
c.337+436C>A (n.337+436C>A)
c.448+436C>A (n.448+436C>A)
c.552C>A (p.Ser184Arg)
c.498C>A (p.Ser166Arg)
c.576C>A (p.Ser192Arg)
15g.74893238C>GCA393174589MPIc.588C>G (p.Ser196Arg)
c.487+436C>G (n.487+436C>G)
c.438C>G (p.Ser146Arg)
c.*484C>G (n.*484C>G)
c.528C>G (p.Ser176Arg)
c.255+1749C>G (n.255+1749C>G)
c.337+436C>G (n.337+436C>G)
c.448+436C>G (n.448+436C>G)
c.552C>G (p.Ser184Arg)
c.498C>G (p.Ser166Arg)
c.576C>G (p.Ser192Arg)
15g.74893238C>TCA491491315MPIc.588C>T (p.Ser196=)
c.487+436C>T (n.487+436C>T)
c.438C>T (p.Ser146=)
c.*484C>T (n.*484C>T)
c.528C>T (p.Ser176=)
c.255+1749C>T (n.255+1749C>T)
c.337+436C>T (n.337+436C>T)
c.448+436C>T (n.448+436C>T)
c.552C>T (p.Ser184=)
c.498C>T (p.Ser166=)
c.576C>T (p.Ser192=)
15g.74893239T>ACA393174592MPIc.589T>A (p.Cys197Ser)
c.487+437T>A (n.487+437T>A)
c.439T>A (p.Cys147Ser)
c.*485T>A (n.*485T>A)
c.529T>A (p.Cys177Ser)
c.255+1750T>A (n.255+1750T>A)
c.337+437T>A (n.337+437T>A)
c.448+437T>A (n.448+437T>A)
c.553T>A (p.Cys185Ser)
c.499T>A (p.Cys167Ser)
c.577T>A (p.Cys193Ser)
15g.74893239T>CCA393174594MPIc.589T>C (p.Cys197Arg)
c.487+437T>C (n.487+437T>C)
c.439T>C (p.Cys147Arg)
c.*485T>C (n.*485T>C)
c.529T>C (p.Cys177Arg)
c.255+1750T>C (n.255+1750T>C)
c.337+437T>C (n.337+437T>C)
c.448+437T>C (n.448+437T>C)
c.553T>C (p.Cys185Arg)
c.499T>C (p.Cys167Arg)
c.577T>C (p.Cys193Arg)
15g.74893239T>GCA393174596MPIc.589T>G (p.Cys197Gly)
c.487+437T>G (n.487+437T>G)
c.439T>G (p.Cys147Gly)
c.*485T>G (n.*485T>G)
c.529T>G (p.Cys177Gly)
c.255+1750T>G (n.255+1750T>G)
c.337+437T>G (n.337+437T>G)
c.448+437T>G (n.448+437T>G)
c.553T>G (p.Cys185Gly)
c.499T>G (p.Cys167Gly)
c.577T>G (p.Cys193Gly)
15g.74893240G>ACA393174598MPIc.590G>A (p.Cys197Tyr)
c.487+438G>A (n.487+438G>A)
c.440G>A (p.Cys147Tyr)
c.*486G>A (n.*486G>A)
c.530G>A (p.Cys177Tyr)
c.255+1751G>A (n.255+1751G>A)
c.337+438G>A (n.337+438G>A)
c.448+438G>A (n.448+438G>A)
c.554G>A (p.Cys185Tyr)
c.500G>A (p.Cys167Tyr)
c.578G>A (p.Cys193Tyr)
15g.74893240G>CCA393174600MPIc.590G>C (p.Cys197Ser)
c.487+438G>C (n.487+438G>C)
c.440G>C (p.Cys147Ser)
c.*486G>C (n.*486G>C)
c.530G>C (p.Cys177Ser)
c.255+1751G>C (n.255+1751G>C)
c.337+438G>C (n.337+438G>C)
c.448+438G>C (n.448+438G>C)
c.554G>C (p.Cys185Ser)
c.500G>C (p.Cys167Ser)
c.578G>C (p.Cys193Ser)
15g.74893240G>TCA393174602MPIc.590G>T (p.Cys197Phe)
c.487+438G>T (n.487+438G>T)
c.440G>T (p.Cys147Phe)
c.*486G>T (n.*486G>T)
c.530G>T (p.Cys177Phe)
c.255+1751G>T (n.255+1751G>T)
c.337+438G>T (n.337+438G>T)
c.448+438G>T (n.448+438G>T)
c.554G>T (p.Cys185Phe)
c.500G>T (p.Cys167Phe)
c.578G>T (p.Cys193Phe)
15g.74893241T>ACA393174604MPIc.591T>A (p.Cys197Ter)
c.487+439T>A (n.487+439T>A)
c.441T>A (p.Cys147Ter)
c.*487T>A (n.*487T>A)
c.531T>A (p.Cys177Ter)
c.255+1752T>A (n.255+1752T>A)
c.337+439T>A (n.337+439T>A)
c.448+439T>A (n.448+439T>A)
c.555T>A (p.Cys185Ter)
c.501T>A (p.Cys167Ter)
c.579T>A (p.Cys193Ter)
15g.74893241T>CCA491491316MPIc.591T>C (p.Cys197=)
c.487+439T>C (n.487+439T>C)
c.441T>C (p.Cys147=)
c.*487T>C (n.*487T>C)
c.531T>C (p.Cys177=)
c.255+1752T>C (n.255+1752T>C)
c.337+439T>C (n.337+439T>C)
c.448+439T>C (n.448+439T>C)
c.555T>C (p.Cys185=)
c.501T>C (p.Cys167=)
c.579T>C (p.Cys193=)
 ClinVar dbSNP
15g.74893241T>GCA393174606MPIc.591T>G (p.Cys197Trp)
c.487+439T>G (n.487+439T>G)
c.441T>G (p.Cys147Trp)
c.*487T>G (n.*487T>G)
c.531T>G (p.Cys177Trp)
c.255+1752T>G (n.255+1752T>G)
c.337+439T>G (n.337+439T>G)
c.448+439T>G (n.448+439T>G)
c.555T>G (p.Cys185Trp)
c.501T>G (p.Cys167Trp)
c.579T>G (p.Cys193Trp)
15g.74893243dupCA2739269588MPIc.593dup (p.Ser199LeufsTer7)
c.487+441dup (n.487+441dup)
c.443dup (p.Ser149LeufsTer7)
c.*489dup (n.*489dup)
c.533dup (p.Ser179LeufsTer7)
c.255+1754dup (n.255+1754dup)
c.337+441dup (n.337+441dup)
c.448+441dup (n.448+441dup)
c.503dup (p.Phe168=)
c.581dup (p.Ser195LeufsTer7)
 ClinVar
15g.74893242T>ACA393174612MPIc.592T>A (p.Phe198Ile)
c.487+440T>A (n.487+440T>A)
c.442T>A (p.Phe148Ile)
c.*488T>A (n.*488T>A)
c.532T>A (p.Phe178Ile)
c.255+1753T>A (n.255+1753T>A)
c.337+440T>A (n.337+440T>A)
c.448+440T>A (n.448+440T>A)
c.556T>A
c.502T>A (p.Phe168Ile)
c.580T>A (p.Phe194Ile)
15g.74893242T>CCA393174610MPIc.592T>C (p.Phe198Leu)
c.487+440T>C (n.487+440T>C)
c.442T>C (p.Phe148Leu)
c.*488T>C (n.*488T>C)
c.532T>C (p.Phe178Leu)
c.255+1753T>C (n.255+1753T>C)
c.337+440T>C (n.337+440T>C)
c.448+440T>C (n.448+440T>C)
c.556T>C
c.502T>C (p.Phe168Leu)
c.580T>C (p.Phe194Leu)
15g.74893242T>GCA393174608MPIc.592T>G (p.Phe198Val)
c.487+440T>G (n.487+440T>G)
c.442T>G (p.Phe148Val)
c.*488T>G (n.*488T>G)
c.532T>G (p.Phe178Val)
c.255+1753T>G (n.255+1753T>G)
c.337+440T>G (n.337+440T>G)
c.448+440T>G (n.448+440T>G)
c.556T>G
c.502T>G (p.Phe168Val)
c.580T>G (p.Phe194Val)
15g.74893243T>ACA393174614MPIc.593T>A (p.Phe198Tyr)
c.487+441T>A (n.487+441T>A)
c.443T>A (p.Phe148Tyr)
c.*489T>A (n.*489T>A)
c.533T>A (p.Phe178Tyr)
c.255+1754T>A (n.255+1754T>A)
c.337+441T>A (n.337+441T>A)
c.448+441T>A (n.448+441T>A)
c.503T>A (p.Phe168Tyr)
c.581T>A (p.Phe194Tyr)
15g.74893243T>CCA393174616MPIc.593T>C (p.Phe198Ser)
c.487+441T>C (n.487+441T>C)
c.443T>C (p.Phe148Ser)
c.*489T>C (n.*489T>C)
c.533T>C (p.Phe178Ser)
c.255+1754T>C (n.255+1754T>C)
c.337+441T>C (n.337+441T>C)
c.448+441T>C (n.448+441T>C)
c.503T>C (p.Phe168Ser)
c.581T>C (p.Phe194Ser)
15g.74893243T>GCA393174618MPIc.593T>G (p.Phe198Cys)
c.487+441T>G (n.487+441T>G)
c.443T>G (p.Phe148Cys)
c.*489T>G (n.*489T>G)
c.533T>G (p.Phe178Cys)
c.255+1754T>G (n.255+1754T>G)
c.337+441T>G (n.337+441T>G)
c.448+441T>G (n.448+441T>G)
c.503T>G (p.Phe168Cys)
c.581T>G (p.Phe194Cys)
15g.74893244C>ACA393174620MPIc.594C>A (p.Phe198Leu)
c.487+442C>A (n.487+442C>A)
c.444C>A (p.Phe148Leu)
c.*490C>A (n.*490C>A)
c.534C>A (p.Phe178Leu)
c.255+1755C>A (n.255+1755C>A)
c.337+442C>A (n.337+442C>A)
c.448+442C>A (n.448+442C>A)
c.504C>A (p.Phe168Leu)
c.582C>A (p.Phe194Leu)
 gnomAD v4
15g.74893244C=CA2187897308MPIc.594C= (p.Phe198=)
c.487+442C= (n.487+442C=)
c.444C= (p.Phe148=)
c.*490C= (n.*490C=)
c.534C= (p.Phe178=)
c.255+1755C= (n.255+1755C=)
c.337+442C= (n.337+442C=)
c.448+442C= (n.448+442C=)
c.504C= (p.Phe168=)
c.582C= (p.Phe194=)
15g.74893244C>GCA393174622MPIc.594C>G (p.Phe198Leu)
c.487+442C>G (n.487+442C>G)
c.444C>G (p.Phe148Leu)
c.*490C>G (n.*490C>G)
c.534C>G (p.Phe178Leu)
c.255+1755C>G (n.255+1755C>G)
c.337+442C>G (n.337+442C>G)
c.448+442C>G (n.448+442C>G)
c.504C>G (p.Phe168Leu)
c.582C>G (p.Phe194Leu)
15g.74893244C>TCA491491317MPIc.594C>T (p.Phe198=)
c.487+442C>T (n.487+442C>T)
c.444C>T (p.Phe148=)
c.*490C>T (n.*490C>T)
c.534C>T (p.Phe178=)
c.255+1755C>T (n.255+1755C>T)
c.337+442C>T (n.337+442C>T)
c.448+442C>T (n.448+442C>T)
c.504C>T (p.Phe168=)
c.582C>T (p.Phe194=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74893245T>ACA393174625MPIc.595T>A (p.Ser199Thr)
c.487+443T>A (n.487+443T>A)
c.445T>A (p.Ser149Thr)
c.*491T>A (n.*491T>A)
c.535T>A (p.Ser179Thr)
c.255+1756T>A (n.255+1756T>A)
c.337+443T>A (n.337+443T>A)
c.448+443T>A (n.448+443T>A)
c.505T>A
c.583T>A (p.Ser195Thr)
15g.74893245T>CCA393174626MPIc.595T>C (p.Ser199Pro)
c.487+443T>C (n.487+443T>C)
c.445T>C (p.Ser149Pro)
c.*491T>C (n.*491T>C)
c.535T>C (p.Ser179Pro)
c.255+1756T>C (n.255+1756T>C)
c.337+443T>C (n.337+443T>C)
c.448+443T>C (n.448+443T>C)
c.505T>C
c.583T>C (p.Ser195Pro)
15g.74893245T>GCA393174627MPIc.595T>G (p.Ser199Ala)
c.487+443T>G (n.487+443T>G)
c.445T>G (p.Ser149Ala)
c.*491T>G (n.*491T>G)
c.535T>G (p.Ser179Ala)
c.255+1756T>G (n.255+1756T>G)
c.337+443T>G (n.337+443T>G)
c.448+443T>G (n.448+443T>G)
c.505T>G
c.583T>G (p.Ser195Ala)
15g.74893246C>ACA393174628MPIc.596C>A (p.Ser199Tyr)
c.487+444C>A (n.487+444C>A)
c.446C>A (p.Ser149Tyr)
c.*492C>A (n.*492C>A)
c.536C>A (p.Ser179Tyr)
c.255+1757C>A (n.255+1757C>A)
c.337+444C>A (n.337+444C>A)
c.448+444C>A (n.448+444C>A)
c.584C>A (p.Ser195Tyr)
15g.74893246C>GCA393174629MPIc.596C>G (p.Ser199Cys)
c.487+444C>G (n.487+444C>G)
c.446C>G (p.Ser149Cys)
c.*492C>G (n.*492C>G)
c.536C>G (p.Ser179Cys)
c.255+1757C>G (n.255+1757C>G)
c.337+444C>G (n.337+444C>G)
c.448+444C>G (n.448+444C>G)
c.584C>G (p.Ser195Cys)
15g.74893246C>TCA393174630MPIc.596C>T (p.Ser199Phe)
c.487+444C>T (n.487+444C>T)
c.446C>T (p.Ser149Phe)
c.*492C>T (n.*492C>T)
c.536C>T (p.Ser179Phe)
c.255+1757C>T (n.255+1757C>T)
c.337+444C>T (n.337+444C>T)
c.448+444C>T (n.448+444C>T)
c.584C>T (p.Ser195Phe)
15g.74893247C>ACA491491318MPIc.597C>A (p.Ser199=)
c.487+445C>A (n.487+445C>A)
c.447C>A (p.Ser149=)
c.*493C>A (n.*493C>A)
c.537C>A (p.Ser179=)
c.255+1758C>A (n.255+1758C>A)
c.337+445C>A (n.337+445C>A)
c.448+445C>A (n.448+445C>A)
c.585C>A (p.Ser195=)
15g.74893247C=CA2187897311MPIc.597C= (p.Ser199=)
c.487+445C= (n.487+445C=)
c.447C= (p.Ser149=)
c.*493C= (n.*493C=)
c.537C= (p.Ser179=)
c.255+1758C= (n.255+1758C=)
c.337+445C= (n.337+445C=)
c.448+445C= (n.448+445C=)
c.585C= (p.Ser195=)
15g.74893247C>GCA491491319MPIc.597C>G (p.Ser199=)
c.487+445C>G (n.487+445C>G)
c.447C>G (p.Ser149=)
c.*493C>G (n.*493C>G)
c.537C>G (p.Ser179=)
c.255+1758C>G (n.255+1758C>G)
c.337+445C>G (n.337+445C>G)
c.448+445C>G (n.448+445C>G)
c.585C>G (p.Ser195=)
15g.74893247C>TCA491491320MPIc.597C>T (p.Ser199=)
c.487+445C>T (n.487+445C>T)
c.447C>T (p.Ser149=)
c.*493C>T (n.*493C>T)
c.537C>T (p.Ser179=)
c.255+1758C>T (n.255+1758C>T)
c.337+445C>T (n.337+445C>T)
c.448+445C>T (n.448+445C>T)
c.585C>T (p.Ser195=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893248C>ACA393174632MPIc.598C>A (p.His200Asn)
c.487+446C>A (n.487+446C>A)
c.448C>A (p.His150Asn)
c.*494C>A (n.*494C>A)
c.538C>A (p.His180Asn)
c.255+1759C>A (n.255+1759C>A)
c.337+446C>A (n.337+446C>A)
c.448+446C>A (n.448+446C>A)
c.586C>A (p.His196Asn)
15g.74893248C>GCA393174633MPIc.598C>G (p.His200Asp)
c.487+446C>G (n.487+446C>G)
c.448C>G (p.His150Asp)
c.*494C>G (n.*494C>G)
c.538C>G (p.His180Asp)
c.255+1759C>G (n.255+1759C>G)
c.337+446C>G (n.337+446C>G)
c.448+446C>G (n.448+446C>G)
c.586C>G (p.His196Asp)
15g.74893248C>TCA393174631MPIc.598C>T (p.His200Tyr)
c.487+446C>T (n.487+446C>T)
c.448C>T (p.His150Tyr)
c.*494C>T (n.*494C>T)
c.538C>T (p.His180Tyr)
c.255+1759C>T (n.255+1759C>T)
c.337+446C>T (n.337+446C>T)
c.448+446C>T (n.448+446C>T)
c.586C>T (p.His196Tyr)
15g.74893249_74893250delCA2629530469MPIc.599_600del (p.His200ProfsTer5)
c.487+447_487+448del (n.487+447_487+448del)
c.449_450del (p.His150ProfsTer5)
c.*495_*496del (n.*495_*496del)
c.539_540del (p.His180ProfsTer5)
c.255+1760_255+1761del (n.255+1760_255+1761del)
c.337+447_337+448del (n.337+447_337+448del)
c.448+447_448+448del (n.448+447_448+448del)
c.587_588del (p.His196ProfsTer5)
 gnomAD v4
15g.74893249A=CA2187897314MPIc.599A= (p.His200=)
c.487+447A= (n.487+447A=)
c.449A= (p.His150=)
c.*495A= (n.*495A=)
c.539A= (p.His180=)
c.255+1760A= (n.255+1760A=)
c.337+447A= (n.337+447A=)
c.448+447A= (n.448+447A=)
c.587A= (p.His196=)
15g.74893249A>CCA393174634MPIc.599A>C (p.His200Pro)
c.487+447A>C (n.487+447A>C)
c.449A>C (p.His150Pro)
c.*495A>C (n.*495A>C)
c.539A>C (p.His180Pro)
c.255+1760A>C (n.255+1760A>C)
c.337+447A>C (n.337+447A>C)
c.448+447A>C (n.448+447A>C)
c.587A>C (p.His196Pro)
15g.74893249A>GCA7662466MPIc.599A>G (p.His200Arg)
c.487+447A>G (n.487+447A>G)
c.449A>G (p.His150Arg)
c.*495A>G (n.*495A>G)
c.539A>G (p.His180Arg)
c.255+1760A>G (n.255+1760A>G)
c.337+447A>G (n.337+447A>G)
c.448+447A>G (n.448+447A>G)
c.587A>G (p.His196Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893249A>TCA393174635MPIc.599A>T (p.His200Leu)
c.487+447A>T (n.487+447A>T)
c.449A>T (p.His150Leu)
c.*495A>T (n.*495A>T)
c.539A>T (p.His180Leu)
c.255+1760A>T (n.255+1760A>T)
c.337+447A>T (n.337+447A>T)
c.448+447A>T (n.448+447A>T)
c.587A>T (p.His196Leu)
 gnomAD v4
15g.74893249_74893258delCA2575791692MPIc.599_608del (p.His200ArgfsTer15)
c.487+447_487+456del (n.487+447_487+456del)
c.449_458del (p.His150ArgfsTer15)
c.*495_*504del (n.*495_*504del)
c.539_548del (p.His180ArgfsTer15)
c.255+1760_255+1769del (n.255+1760_255+1769del)
c.337+447_337+456del (n.337+447_337+456del)
c.448+447_448+456del (n.448+447_448+456del)
c.587_596del (p.His196ArgfsTer15)
15g.74893250C>ACA7662467MPIc.600C>A (p.His200Gln)
c.487+448C>A (n.487+448C>A)
c.450C>A (p.His150Gln)
c.*496C>A (n.*496C>A)
c.540C>A (p.His180Gln)
c.255+1761C>A (n.255+1761C>A)
c.337+448C>A (n.337+448C>A)
c.448+448C>A (n.448+448C>A)
c.588C>A (p.His196Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893250C=CA2187897318MPIc.600C= (p.His200=)
c.487+448C= (n.487+448C=)
c.450C= (p.His150=)
c.*496C= (n.*496C=)
c.540C= (p.His180=)
c.255+1761C= (n.255+1761C=)
c.337+448C= (n.337+448C=)
c.448+448C= (n.448+448C=)
c.588C= (p.His196=)
15g.74893250C>GCA393174636MPIc.600C>G (p.His200Gln)
c.487+448C>G (n.487+448C>G)
c.450C>G (p.His150Gln)
c.*496C>G (n.*496C>G)
c.540C>G (p.His180Gln)
c.255+1761C>G (n.255+1761C>G)
c.337+448C>G (n.337+448C>G)
c.448+448C>G (n.448+448C>G)
c.588C>G (p.His196Gln)
15g.74893250C>TCA491491321MPIc.600C>T (p.His200=)
c.487+448C>T (n.487+448C>T)
c.450C>T (p.His150=)
c.*496C>T (n.*496C>T)
c.540C>T (p.His180=)
c.255+1761C>T (n.255+1761C>T)
c.337+448C>T (n.337+448C>T)
c.448+448C>T (n.448+448C>T)
c.588C>T (p.His196=)
 gnomAD v4
15g.74893251C>ACA393174637MPIc.601C>A (p.Leu201Met)
c.487+449C>A (n.487+449C>A)
c.451C>A (p.Leu151Met)
c.*497C>A (n.*497C>A)
c.541C>A (p.Leu181Met)
c.255+1762C>A (n.255+1762C>A)
c.337+449C>A (n.337+449C>A)
c.448+449C>A (n.448+449C>A)
c.589C>A (p.Leu197Met)
15g.74893251C>GCA393174638MPIc.601C>G (p.Leu201Val)
c.487+449C>G (n.487+449C>G)
c.451C>G (p.Leu151Val)
c.*497C>G (n.*497C>G)
c.541C>G (p.Leu181Val)
c.255+1762C>G (n.255+1762C>G)
c.337+449C>G (n.337+449C>G)
c.448+449C>G (n.448+449C>G)
c.589C>G (p.Leu197Val)
15g.74893251C>TCA491491322MPIc.601C>T (p.Leu201=)
c.487+449C>T (n.487+449C>T)
c.451C>T (p.Leu151=)
c.*497C>T (n.*497C>T)
c.541C>T (p.Leu181=)
c.255+1762C>T (n.255+1762C>T)
c.337+449C>T (n.337+449C>T)
c.448+449C>T (n.448+449C>T)
c.589C>T (p.Leu197=)
15g.74893252T>ACA393174639MPIc.602T>A (p.Leu201Gln)
c.487+450T>A (n.487+450T>A)
c.452T>A (p.Leu151Gln)
c.*498T>A (n.*498T>A)
c.542T>A (p.Leu181Gln)
c.255+1763T>A (n.255+1763T>A)
c.337+450T>A (n.337+450T>A)
c.448+450T>A (n.448+450T>A)
c.590T>A (p.Leu197Gln)
15g.74893252T>CCA393174641MPIc.602T>C (p.Leu201Pro)
c.487+450T>C (n.487+450T>C)
c.452T>C (p.Leu151Pro)
c.*498T>C (n.*498T>C)
c.542T>C (p.Leu181Pro)
c.255+1763T>C (n.255+1763T>C)
c.337+450T>C (n.337+450T>C)
c.448+450T>C (n.448+450T>C)
c.590T>C (p.Leu197Pro)
 ClinVar dbSNP
15g.74893252T>GCA393174640MPIc.602T>G (p.Leu201Arg)
c.487+450T>G (n.487+450T>G)
c.452T>G (p.Leu151Arg)
c.*498T>G (n.*498T>G)
c.542T>G (p.Leu181Arg)
c.255+1763T>G (n.255+1763T>G)
c.337+450T>G (n.337+450T>G)
c.448+450T>G (n.448+450T>G)
c.590T>G (p.Leu197Arg)
 dbSNP
15g.74893252T=CA2187897322MPIc.602T= (p.Leu201=)
c.487+450T= (n.487+450T=)
c.452T= (p.Leu151=)
c.*498T= (n.*498T=)
c.542T= (p.Leu181=)
c.255+1763T= (n.255+1763T=)
c.337+450T= (n.337+450T=)
c.448+450T= (n.448+450T=)
c.590T= (p.Leu197=)
15g.74893253G>ACA491491324MPIc.603G>A (p.Leu201=)
c.487+451G>A (n.487+451G>A)
c.453G>A (p.Leu151=)
c.*499G>A (n.*499G>A)
c.543G>A (p.Leu181=)
c.255+1764G>A (n.255+1764G>A)
c.337+451G>A (n.337+451G>A)
c.448+451G>A (n.448+451G>A)
c.591G>A (p.Leu197=)
15g.74893253G>CCA7662468MPIc.603G>C (p.Leu201=)
c.487+451G>C (n.487+451G>C)
c.453G>C (p.Leu151=)
c.*499G>C (n.*499G>C)
c.543G>C (p.Leu181=)
c.255+1764G>C (n.255+1764G>C)
c.337+451G>C (n.337+451G>C)
c.448+451G>C (n.448+451G>C)
c.591G>C (p.Leu197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893253G=CA2187897326MPIc.603G= (p.Leu201=)
c.487+451G= (n.487+451G=)
c.453G= (p.Leu151=)
c.*499G= (n.*499G=)
c.543G= (p.Leu181=)
c.255+1764G= (n.255+1764G=)
c.337+451G= (n.337+451G=)
c.448+451G= (n.448+451G=)
c.591G= (p.Leu197=)
15g.74893253G>TCA491491323MPIc.603G>T (p.Leu201=)
c.487+451G>T (n.487+451G>T)
c.453G>T (p.Leu151=)
c.*499G>T (n.*499G>T)
c.543G>T (p.Leu181=)
c.255+1764G>T (n.255+1764G>T)
c.337+451G>T (n.337+451G>T)
c.448+451G>T (n.448+451G>T)
c.591G>T (p.Leu197=)
15g.74893254A>CCA393174642MPIc.604A>C (p.Met202Leu)
c.487+452A>C (n.487+452A>C)
c.454A>C (p.Met152Leu)
c.*500A>C (n.*500A>C)
c.544A>C (p.Met182Leu)
c.255+1765A>C (n.255+1765A>C)
c.337+452A>C (n.337+452A>C)
c.448+452A>C (n.448+452A>C)
c.592A>C (p.Met198Leu)
15g.74893254A>GCA393174643MPIc.604A>G (p.Met202Val)
c.487+452A>G (n.487+452A>G)
c.454A>G (p.Met152Val)
c.*500A>G (n.*500A>G)
c.544A>G (p.Met182Val)
c.255+1765A>G (n.255+1765A>G)
c.337+452A>G (n.337+452A>G)
c.448+452A>G (n.448+452A>G)
c.592A>G (p.Met198Val)
15g.74893254A>TCA393174644MPIc.604A>T (p.Met202Leu)
c.487+452A>T (n.487+452A>T)
c.454A>T (p.Met152Leu)
c.*500A>T (n.*500A>T)
c.544A>T (p.Met182Leu)
c.255+1765A>T (n.255+1765A>T)
c.337+452A>T (n.337+452A>T)
c.448+452A>T (n.448+452A>T)
c.592A>T (p.Met198Leu)
15g.74893255T>ACA393174645MPIc.605T>A (p.Met202Lys)
c.487+453T>A (n.487+453T>A)
c.455T>A (p.Met152Lys)
c.*501T>A (n.*501T>A)
c.545T>A (p.Met182Lys)
c.255+1766T>A (n.255+1766T>A)
c.337+453T>A (n.337+453T>A)
c.448+453T>A (n.448+453T>A)
c.593T>A (p.Met198Lys)
15g.74893255T>CCA393174647MPIc.605T>C (p.Met202Thr)
c.487+453T>C (n.487+453T>C)
c.455T>C (p.Met152Thr)
c.*501T>C (n.*501T>C)
c.545T>C (p.Met182Thr)
c.255+1766T>C (n.255+1766T>C)
c.337+453T>C (n.337+453T>C)
c.448+453T>C (n.448+453T>C)
c.593T>C (p.Met198Thr)
15g.74893255T>GCA393174646MPIc.605T>G (p.Met202Arg)
c.487+453T>G (n.487+453T>G)
c.455T>G (p.Met152Arg)
c.*501T>G (n.*501T>G)
c.545T>G (p.Met182Arg)
c.255+1766T>G (n.255+1766T>G)
c.337+453T>G (n.337+453T>G)
c.448+453T>G (n.448+453T>G)
c.593T>G (p.Met198Arg)
 dbSNP gnomAD v4
15g.74893255T=CA2187897329MPIc.605T= (p.Met202=)
c.487+453T= (n.487+453T=)
c.455T= (p.Met152=)
c.*501T= (n.*501T=)
c.545T= (p.Met182=)
c.255+1766T= (n.255+1766T=)
c.337+453T= (n.337+453T=)
c.448+453T= (n.448+453T=)
c.593T= (p.Met198=)
15g.74893256G>ACA393174648MPIc.606G>A (p.Met202Ile)
c.487+454G>A (n.487+454G>A)
c.456G>A (p.Met152Ile)
c.*502G>A (n.*502G>A)
c.546G>A (p.Met182Ile)
c.255+1767G>A (n.255+1767G>A)
c.337+454G>A (n.337+454G>A)
c.448+454G>A (n.448+454G>A)
c.594G>A (p.Met198Ile)
15g.74893256G>CCA393174649MPIc.606G>C (p.Met202Ile)
c.487+454G>C (n.487+454G>C)
c.456G>C (p.Met152Ile)
c.*502G>C (n.*502G>C)
c.546G>C (p.Met182Ile)
c.255+1767G>C (n.255+1767G>C)
c.337+454G>C (n.337+454G>C)
c.448+454G>C (n.448+454G>C)
c.594G>C (p.Met198Ile)
15g.74893256G>TCA393174650MPIc.606G>T (p.Met202Ile)
c.487+454G>T (n.487+454G>T)
c.456G>T (p.Met152Ile)
c.*502G>T (n.*502G>T)
c.546G>T (p.Met182Ile)
c.255+1767G>T (n.255+1767G>T)
c.337+454G>T (n.337+454G>T)
c.448+454G>T (n.448+454G>T)
c.594G>T (p.Met198Ile)
15g.74893257A>CCA393174651MPIc.607A>C (p.Lys203Gln)
c.487+455A>C (n.487+455A>C)
c.457A>C (p.Lys153Gln)
c.*503A>C (n.*503A>C)
c.547A>C (p.Lys183Gln)
c.255+1768A>C (n.255+1768A>C)
c.337+455A>C (n.337+455A>C)
c.448+455A>C (n.448+455A>C)
c.595A>C (p.Lys199Gln)
15g.74893257A>GCA393174652MPIc.607A>G (p.Lys203Glu)
c.487+455A>G (n.487+455A>G)
c.457A>G (p.Lys153Glu)
c.*503A>G (n.*503A>G)
c.547A>G (p.Lys183Glu)
c.255+1768A>G (n.255+1768A>G)
c.337+455A>G (n.337+455A>G)
c.448+455A>G (n.448+455A>G)
c.595A>G (p.Lys199Glu)
 gnomAD v4
15g.74893257A>TCA393174653MPIc.607A>T (p.Lys203Ter)
c.487+455A>T (n.487+455A>T)
c.457A>T (p.Lys153Ter)
c.*503A>T (n.*503A>T)
c.547A>T (p.Lys183Ter)
c.255+1768A>T (n.255+1768A>T)
c.337+455A>T (n.337+455A>T)
c.448+455A>T (n.448+455A>T)
c.595A>T (p.Lys199Ter)
15g.74893258A>CCA393174654MPIc.608A>C (p.Lys203Thr)
c.487+456A>C (n.487+456A>C)
c.458A>C (p.Lys153Thr)
c.*504A>C (n.*504A>C)
c.548A>C (p.Lys183Thr)
c.255+1769A>C (n.255+1769A>C)
c.337+456A>C (n.337+456A>C)
c.448+456A>C (n.448+456A>C)
c.596A>C (p.Lys199Thr)
15g.74893258A>GCA393174655MPIc.608A>G (p.Lys203Arg)
c.487+456A>G (n.487+456A>G)
c.458A>G (p.Lys153Arg)
c.*504A>G (n.*504A>G)
c.548A>G (p.Lys183Arg)
c.255+1769A>G (n.255+1769A>G)
c.337+456A>G (n.337+456A>G)
c.448+456A>G (n.448+456A>G)
c.596A>G (p.Lys199Arg)
15g.74893258A>TCA393174656MPIc.608A>T (p.Lys203Met)
c.487+456A>T (n.487+456A>T)
c.458A>T (p.Lys153Met)
c.*504A>T (n.*504A>T)
c.548A>T (p.Lys183Met)
c.255+1769A>T (n.255+1769A>T)
c.337+456A>T (n.337+456A>T)
c.448+456A>T (n.448+456A>T)
c.596A>T (p.Lys199Met)
15g.74893259G>ACA491491325MPIc.609G>A (p.Lys203=)
c.487+457G>A (n.487+457G>A)
c.459G>A (p.Lys153=)
c.*505G>A (n.*505G>A)
c.549G>A (p.Lys183=)
c.255+1770G>A (n.255+1770G>A)
c.337+457G>A (n.337+457G>A)
c.448+457G>A (n.448+457G>A)
c.597G>A (p.Lys199=)
15g.74893259G>CCA393174657MPIc.609G>C (p.Lys203Asn)
c.487+457G>C (n.487+457G>C)
c.459G>C (p.Lys153Asn)
c.*505G>C (n.*505G>C)
c.549G>C (p.Lys183Asn)
c.255+1770G>C (n.255+1770G>C)
c.337+457G>C (n.337+457G>C)
c.448+457G>C (n.448+457G>C)
c.597G>C (p.Lys199Asn)
15g.74893259G=CA2187897335MPIc.609G= (p.Lys203=)
c.487+457G= (n.487+457G=)
c.459G= (p.Lys153=)
c.*505G= (n.*505G=)
c.549G= (p.Lys183=)
c.255+1770G= (n.255+1770G=)
c.337+457G= (n.337+457G=)
c.448+457G= (n.448+457G=)
c.597G= (p.Lys199=)
15g.74893259G>TCA7662469MPIc.609G>T (p.Lys203Asn)
c.487+457G>T (n.487+457G>T)
c.459G>T (p.Lys153Asn)
c.*505G>T (n.*505G>T)
c.549G>T (p.Lys183Asn)
c.255+1770G>T (n.255+1770G>T)
c.337+457G>T (n.337+457G>T)
c.448+457G>T (n.448+457G>T)
c.597G>T (p.Lys199Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893262_74893265delCA2697549218MPIc.612_615del (p.Ser204ArgfsTer13)
c.487+460_487+463del (n.487+460_487+463del)
c.462_465del (p.Ser154ArgfsTer13)
c.*508_*511del (n.*508_*511del)
c.552_555del (p.Ser184ArgfsTer13)
c.255+1773_255+1776del (n.255+1773_255+1776del)
c.337+460_337+463del (n.337+460_337+463del)
c.448+460_448+463del (n.448+460_448+463del)
c.600_603del (p.Ser200ArgfsTer13)
 ClinVar
15g.74893260A>CCA393174660MPIc.610A>C (p.Ser204Arg)
c.487+458A>C (n.487+458A>C)
c.460A>C (p.Ser154Arg)
c.*506A>C (n.*506A>C)
c.550A>C (p.Ser184Arg)
c.255+1771A>C (n.255+1771A>C)
c.337+458A>C (n.337+458A>C)
c.448+458A>C (n.448+458A>C)
c.598A>C (p.Ser200Arg)
15g.74893260A>GCA393174659MPIc.610A>G (p.Ser204Gly)
c.487+458A>G (n.487+458A>G)
c.460A>G (p.Ser154Gly)
c.*506A>G (n.*506A>G)
c.550A>G (p.Ser184Gly)
c.255+1771A>G (n.255+1771A>G)
c.337+458A>G (n.337+458A>G)
c.448+458A>G (n.448+458A>G)
c.598A>G (p.Ser200Gly)
15g.74893260A>TCA393174658MPIc.610A>T (p.Ser204Cys)
c.487+458A>T (n.487+458A>T)
c.460A>T (p.Ser154Cys)
c.*506A>T (n.*506A>T)
c.550A>T (p.Ser184Cys)
c.255+1771A>T (n.255+1771A>T)
c.337+458A>T (n.337+458A>T)
c.448+458A>T (n.448+458A>T)
c.598A>T (p.Ser200Cys)
15g.74893261G>ACA7662471MPIc.611G>A (p.Ser204Asn)
c.487+459G>A (n.487+459G>A)
c.461G>A (p.Ser154Asn)
c.*507G>A (n.*507G>A)
c.551G>A (p.Ser184Asn)
c.255+1772G>A (n.255+1772G>A)
c.337+459G>A (n.337+459G>A)
c.448+459G>A (n.448+459G>A)
c.599G>A (p.Ser200Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893261G>CCA393174661MPIc.611G>C (p.Ser204Thr)
c.487+459G>C (n.487+459G>C)
c.461G>C (p.Ser154Thr)
c.*507G>C (n.*507G>C)
c.551G>C (p.Ser184Thr)
c.255+1772G>C (n.255+1772G>C)
c.337+459G>C (n.337+459G>C)
c.448+459G>C (n.448+459G>C)
c.599G>C (p.Ser200Thr)
15g.74893261G=CA2187897337MPIc.611G= (p.Ser204=)
c.487+459G= (n.487+459G=)
c.461G= (p.Ser154=)
c.*507G= (n.*507G=)
c.551G= (p.Ser184=)
c.255+1772G= (n.255+1772G=)
c.337+459G= (n.337+459G=)
c.448+459G= (n.448+459G=)
c.599G= (p.Ser200=)
15g.74893261G>TCA7662470MPIc.611G>T (p.Ser204Ile)
c.487+459G>T (n.487+459G>T)
c.461G>T (p.Ser154Ile)
c.*507G>T (n.*507G>T)
c.551G>T (p.Ser184Ile)
c.255+1772G>T (n.255+1772G>T)
c.337+459G>T (n.337+459G>T)
c.448+459G>T (n.448+459G>T)
c.599G>T (p.Ser200Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893262T>ACA393174662MPIc.612T>A (p.Ser204Arg)
c.487+460T>A (n.487+460T>A)
c.462T>A (p.Ser154Arg)
c.*508T>A (n.*508T>A)
c.552T>A (p.Ser184Arg)
c.255+1773T>A (n.255+1773T>A)
c.337+460T>A (n.337+460T>A)
c.448+460T>A (n.448+460T>A)
c.600T>A (p.Ser200Arg)
15g.74893262T>CCA491491326MPIc.612T>C (p.Ser204=)
c.487+460T>C (n.487+460T>C)
c.462T>C (p.Ser154=)
c.*508T>C (n.*508T>C)
c.552T>C (p.Ser184=)
c.255+1773T>C (n.255+1773T>C)
c.337+460T>C (n.337+460T>C)
c.448+460T>C (n.448+460T>C)
c.600T>C (p.Ser200=)
15g.74893262T>GCA10605239MPIc.612T>G (p.Ser204Arg)
c.487+460T>G (n.487+460T>G)
c.462T>G (p.Ser154Arg)
c.*508T>G (n.*508T>G)
c.552T>G (p.Ser184Arg)
c.255+1773T>G (n.255+1773T>G)
c.337+460T>G (n.337+460T>G)
c.448+460T>G (n.448+460T>G)
c.600T>G (p.Ser200Arg)
 ClinVar dbSNP
15g.74893262T=CA2187897341MPIc.612T= (p.Ser204=)
c.487+460T= (n.487+460T=)
c.462T= (p.Ser154=)
c.*508T= (n.*508T=)
c.552T= (p.Ser184=)
c.255+1773T= (n.255+1773T=)
c.337+460T= (n.337+460T=)
c.448+460T= (n.448+460T=)
c.600T= (p.Ser200=)
15g.74893263G>ACA393174663MPIc.613G>A (p.Glu205Lys)
c.487+461G>A (n.487+461G>A)
c.463G>A (p.Glu155Lys)
c.*509G>A (n.*509G>A)
c.553G>A (p.Glu185Lys)
c.255+1774G>A (n.255+1774G>A)
c.337+461G>A (n.337+461G>A)
c.448+461G>A (n.448+461G>A)
c.601G>A (p.Glu201Lys)
 gnomAD v4
15g.74893263G>CCA393174664MPIc.613G>C (p.Glu205Gln)
c.487+461G>C (n.487+461G>C)
c.463G>C (p.Glu155Gln)
c.*509G>C (n.*509G>C)
c.553G>C (p.Glu185Gln)
c.255+1774G>C (n.255+1774G>C)
c.337+461G>C (n.337+461G>C)
c.448+461G>C (n.448+461G>C)
c.601G>C (p.Glu201Gln)
15g.74893263G>TCA393174665MPIc.613G>T (p.Glu205Ter)
c.487+461G>T (n.487+461G>T)
c.463G>T (p.Glu155Ter)
c.*509G>T (n.*509G>T)
c.553G>T (p.Glu185Ter)
c.255+1774G>T (n.255+1774G>T)
c.337+461G>T (n.337+461G>T)
c.448+461G>T (n.448+461G>T)
c.601G>T (p.Glu201Ter)
 ClinVar gnomAD v4
15g.74893263_74893266delinsGAGACA2187897344MPIc.613_616delinsGAGA (p.Glu205=)
c.487+461_487+464delinsGAGA (n.487+461_487+464delinsGAGA)
c.463_466delinsGAGA (p.Glu155=)
c.*509_*512delinsGAGA (n.*509_*512delinsGAGA)
c.553_556delinsGAGA (p.Glu185=)
c.255+1774_255+1777delinsGAGA (n.255+1774_255+1777delinsGAGA)
c.337+461_337+464delinsGAGA (n.337+461_337+464delinsGAGA)
c.448+461_448+464delinsGAGA (n.448+461_448+464delinsGAGA)
c.601_604delinsGAGA (p.Glu201=)
15g.74893264A>CCA393174666MPIc.614A>C (p.Glu205Ala)
c.487+462A>C (n.487+462A>C)
c.464A>C (p.Glu155Ala)
c.*510A>C (n.*510A>C)
c.554A>C (p.Glu185Ala)
c.255+1775A>C (n.255+1775A>C)
c.337+462A>C (n.337+462A>C)
c.448+462A>C (n.448+462A>C)
c.602A>C (p.Glu201Ala)
15g.74893264A>GCA393174667MPIc.614A>G (p.Glu205Gly)
c.487+462A>G (n.487+462A>G)
c.464A>G (p.Glu155Gly)
c.*510A>G (n.*510A>G)
c.554A>G (p.Glu185Gly)
c.255+1775A>G (n.255+1775A>G)
c.337+462A>G (n.337+462A>G)
c.448+462A>G (n.448+462A>G)
c.602A>G (p.Glu201Gly)
15g.74893264A>TCA393174668MPIc.614A>T (p.Glu205Val)
c.487+462A>T (n.487+462A>T)
c.464A>T (p.Glu155Val)
c.*510A>T (n.*510A>T)
c.554A>T (p.Glu185Val)
c.255+1775A>T (n.255+1775A>T)
c.337+462A>T (n.337+462A>T)
c.448+462A>T (n.448+462A>T)
c.602A>T (p.Glu201Val)
15g.74893269_74893271delCA7662472MPIc.619_621del (p.Lys207del)
c.487+467_487+469del (n.487+467_487+469del)
c.469_471del (p.Lys157del)
c.*515_*517del (n.*515_*517del)
c.559_561del (p.Lys187del)
c.255+1780_255+1782del (n.255+1780_255+1782del)
c.337+467_337+469del (n.337+467_337+469del)
c.448+467_448+469del (n.448+467_448+469del)
c.607_609del (p.Lys203del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893265G>ACA491491327MPIc.615G>A (p.Glu205=)
c.487+463G>A (n.487+463G>A)
c.465G>A (p.Glu155=)
c.*511G>A (n.*511G>A)
c.555G>A (p.Glu185=)
c.255+1776G>A (n.255+1776G>A)
c.337+463G>A (n.337+463G>A)
c.448+463G>A (n.448+463G>A)
c.603G>A (p.Glu201=)
15g.74893265G>CCA393174669MPIc.615G>C (p.Glu205Asp)
c.487+463G>C (n.487+463G>C)
c.465G>C (p.Glu155Asp)
c.*511G>C (n.*511G>C)
c.555G>C (p.Glu185Asp)
c.255+1776G>C (n.255+1776G>C)
c.337+463G>C (n.337+463G>C)
c.448+463G>C (n.448+463G>C)
c.603G>C (p.Glu201Asp)
15g.74893265G=CA2187897350MPIc.615G= (p.Glu205=)
c.487+463G= (n.487+463G=)
c.465G= (p.Glu155=)
c.*511G= (n.*511G=)
c.555G= (p.Glu185=)
c.255+1776G= (n.255+1776G=)
c.337+463G= (n.337+463G=)
c.448+463G= (n.448+463G=)
c.603G= (p.Glu201=)
15g.74893265G>TCA393174670MPIc.615G>T (p.Glu205Asp)
c.487+463G>T (n.487+463G>T)
c.465G>T (p.Glu155Asp)
c.*511G>T (n.*511G>T)
c.555G>T (p.Glu185Asp)
c.255+1776G>T (n.255+1776G>T)
c.337+463G>T (n.337+463G>T)
c.448+463G>T (n.448+463G>T)
c.603G>T (p.Glu201Asp)
 dbSNP gnomAD v4
15g.74893266A>CCA393174671MPIc.616A>C (p.Lys206Gln)
c.487+464A>C (n.487+464A>C)
c.466A>C (p.Lys156Gln)
c.*512A>C (n.*512A>C)
c.556A>C (p.Lys186Gln)
c.255+1777A>C (n.255+1777A>C)
c.337+464A>C (n.337+464A>C)
c.448+464A>C (n.448+464A>C)
c.604A>C (p.Lys202Gln)
15g.74893266A>GCA393174672MPIc.616A>G (p.Lys206Glu)
c.487+464A>G (n.487+464A>G)
c.466A>G (p.Lys156Glu)
c.*512A>G (n.*512A>G)
c.556A>G (p.Lys186Glu)
c.255+1777A>G (n.255+1777A>G)
c.337+464A>G (n.337+464A>G)
c.448+464A>G (n.448+464A>G)
c.604A>G (p.Lys202Glu)
15g.74893266A>TCA393174673MPIc.616A>T (p.Lys206Ter)
c.487+464A>T (n.487+464A>T)
c.466A>T (p.Lys156Ter)
c.*512A>T (n.*512A>T)
c.556A>T (p.Lys186Ter)
c.255+1777A>T (n.255+1777A>T)
c.337+464A>T (n.337+464A>T)
c.448+464A>T (n.448+464A>T)
c.604A>T (p.Lys202Ter)
15g.74893267A>CCA393174676MPIc.617A>C (p.Lys206Thr)
c.487+465A>C (n.487+465A>C)
c.467A>C (p.Lys156Thr)
c.*513A>C (n.*513A>C)
c.557A>C (p.Lys186Thr)
c.255+1778A>C (n.255+1778A>C)
c.337+465A>C (n.337+465A>C)
c.448+465A>C (n.448+465A>C)
c.605A>C (p.Lys202Thr)
 gnomAD v4
15g.74893267A>GCA393174674MPIc.617A>G (p.Lys206Arg)
c.487+465A>G (n.487+465A>G)
c.467A>G (p.Lys156Arg)
c.*513A>G (n.*513A>G)
c.557A>G (p.Lys186Arg)
c.255+1778A>G (n.255+1778A>G)
c.337+465A>G (n.337+465A>G)
c.448+465A>G (n.448+465A>G)
c.605A>G (p.Lys202Arg)
15g.74893267A>TCA393174675MPIc.617A>T (p.Lys206Met)
c.487+465A>T (n.487+465A>T)
c.467A>T (p.Lys156Met)
c.*513A>T (n.*513A>T)
c.557A>T (p.Lys186Met)
c.255+1778A>T (n.255+1778A>T)
c.337+465A>T (n.337+465A>T)
c.448+465A>T (n.448+465A>T)
c.605A>T (p.Lys202Met)
15g.74893268G>ACA7662473MPIc.618G>A (p.Lys206=)
c.487+466G>A (n.487+466G>A)
c.468G>A (p.Lys156=)
c.*514G>A (n.*514G>A)
c.558G>A (p.Lys186=)
c.255+1779G>A (n.255+1779G>A)
c.337+466G>A (n.337+466G>A)
c.448+466G>A (n.448+466G>A)
c.606G>A (p.Lys202=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893268G>CCA393174677MPIc.618G>C (p.Lys206Asn)
c.487+466G>C (n.487+466G>C)
c.468G>C (p.Lys156Asn)
c.*514G>C (n.*514G>C)
c.558G>C (p.Lys186Asn)
c.255+1779G>C (n.255+1779G>C)
c.337+466G>C (n.337+466G>C)
c.448+466G>C (n.448+466G>C)
c.606G>C (p.Lys202Asn)
15g.74893268G=CA2187897353MPIc.618G= (p.Lys206=)
c.487+466G= (n.487+466G=)
c.468G= (p.Lys156=)
c.*514G= (n.*514G=)
c.558G= (p.Lys186=)
c.255+1779G= (n.255+1779G=)
c.337+466G= (n.337+466G=)
c.448+466G= (n.448+466G=)
c.606G= (p.Lys202=)
15g.74893268G>TCA393174678MPIc.618G>T (p.Lys206Asn)
c.487+466G>T (n.487+466G>T)
c.468G>T (p.Lys156Asn)
c.*514G>T (n.*514G>T)
c.558G>T (p.Lys186Asn)
c.255+1779G>T (n.255+1779G>T)
c.337+466G>T (n.337+466G>T)
c.448+466G>T (n.448+466G>T)
c.606G>T (p.Lys202Asn)
15g.74893269A=CA2187897359MPIc.619A= (p.Lys207=)
c.487+467A= (n.487+467A=)
c.469A= (p.Lys157=)
c.*515A= (n.*515A=)
c.559A= (p.Lys187=)
c.255+1780A= (n.255+1780A=)
c.337+467A= (n.337+467A=)
c.448+467A= (n.448+467A=)
c.607A= (p.Lys203=)
15g.74893269A>CCA393174679MPIc.619A>C (p.Lys207Gln)
c.487+467A>C (n.487+467A>C)
c.469A>C (p.Lys157Gln)
c.*515A>C (n.*515A>C)
c.559A>C (p.Lys187Gln)
c.255+1780A>C (n.255+1780A>C)
c.337+467A>C (n.337+467A>C)
c.448+467A>C (n.448+467A>C)
c.607A>C (p.Lys203Gln)
15g.74893269A>GCA7662474MPIc.619A>G (p.Lys207Glu)
c.487+467A>G (n.487+467A>G)
c.469A>G (p.Lys157Glu)
c.*515A>G (n.*515A>G)
c.559A>G (p.Lys187Glu)
c.255+1780A>G (n.255+1780A>G)
c.337+467A>G (n.337+467A>G)
c.448+467A>G (n.448+467A>G)
c.607A>G (p.Lys203Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893269A>TCA393174680MPIc.619A>T (p.Lys207Ter)
c.487+467A>T (n.487+467A>T)
c.469A>T (p.Lys157Ter)
c.*515A>T (n.*515A>T)
c.559A>T (p.Lys187Ter)
c.255+1780A>T (n.255+1780A>T)
c.337+467A>T (n.337+467A>T)
c.448+467A>T (n.448+467A>T)
c.607A>T (p.Lys203Ter)
15g.74893270A=CA2187897363MPIc.620A= (p.Lys207=)
c.487+468A= (n.487+468A=)
c.470A= (p.Lys157=)
c.*516A= (n.*516A=)
c.560A= (p.Lys187=)
c.255+1781A= (n.255+1781A=)
c.337+468A= (n.337+468A=)
c.448+468A= (n.448+468A=)
c.608A= (p.Lys203=)
15g.74893270A>CCA393174681MPIc.620A>C (p.Lys207Thr)
c.487+468A>C (n.487+468A>C)
c.470A>C (p.Lys157Thr)
c.*516A>C (n.*516A>C)
c.560A>C (p.Lys187Thr)
c.255+1781A>C (n.255+1781A>C)
c.337+468A>C (n.337+468A>C)
c.448+468A>C (n.448+468A>C)
c.608A>C (p.Lys203Thr)
15g.74893270A>GCA393174682MPIc.620A>G (p.Lys207Arg)
c.487+468A>G (n.487+468A>G)
c.470A>G (p.Lys157Arg)
c.*516A>G (n.*516A>G)
c.560A>G (p.Lys187Arg)
c.255+1781A>G (n.255+1781A>G)
c.337+468A>G (n.337+468A>G)
c.448+468A>G (n.448+468A>G)
c.608A>G (p.Lys203Arg)
15g.74893270A>TCA7662475MPIc.620A>T (p.Lys207Met)
c.487+468A>T (n.487+468A>T)
c.470A>T (p.Lys157Met)
c.*516A>T (n.*516A>T)
c.560A>T (p.Lys187Met)
c.255+1781A>T (n.255+1781A>T)
c.337+468A>T (n.337+468A>T)
c.448+468A>T (n.448+468A>T)
c.608A>T (p.Lys203Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893270_74893273delinsAGGTCA2187897364MPIc.620_623delinsAGGT (p.Lys207=)
c.487+468_487+471delinsAGGT (n.487+468_487+471delinsAGGT)
c.470_473delinsAGGT (p.Lys157=)
c.*516_*519delinsAGGT (n.*516_*519delinsAGGT)
c.560_563delinsAGGT (p.Lys187=)
c.255+1781_255+1784delinsAGGT (n.255+1781_255+1784delinsAGGT)
c.337+468_337+471delinsAGGT (n.337+468_337+471delinsAGGT)
c.448+468_448+471delinsAGGT (n.448+468_448+471delinsAGGT)
c.608_611delinsAGGT (p.Lys203=)
15g.74893271G>ACA491491328MPIc.621G>A (p.Lys207=)
c.487+469G>A (n.487+469G>A)
c.471G>A (p.Lys157=)
c.*517G>A (n.*517G>A)
c.561G>A (p.Lys187=)
c.255+1782G>A (n.255+1782G>A)
c.337+469G>A (n.337+469G>A)
c.448+469G>A (n.448+469G>A)
c.609G>A (p.Lys203=)
15g.74893271G>CCA393174683MPIc.621G>C (p.Lys207Asn)
c.487+469G>C (n.487+469G>C)
c.471G>C (p.Lys157Asn)
c.*517G>C (n.*517G>C)
c.561G>C (p.Lys187Asn)
c.255+1782G>C (n.255+1782G>C)
c.337+469G>C (n.337+469G>C)
c.448+469G>C (n.448+469G>C)
c.609G>C (p.Lys203Asn)
15g.74893271G>TCA393174684MPIc.621G>T (p.Lys207Asn)
c.487+469G>T (n.487+469G>T)
c.471G>T (p.Lys157Asn)
c.*517G>T (n.*517G>T)
c.561G>T (p.Lys187Asn)
c.255+1782G>T (n.255+1782G>T)
c.337+469G>T (n.337+469G>T)
c.448+469G>T (n.448+469G>T)
c.609G>T (p.Lys203Asn)
15g.74893279_74893281delCA619413234MPIc.629_631del (p.Val210del)
c.487+477_487+479del (n.487+477_487+479del)
c.479_481del (p.Val160del)
c.*525_*527del (n.*525_*527del)
c.569_571del (p.Val190del)
c.255+1790_255+1792del (n.255+1790_255+1792del)
c.337+477_337+479del (n.337+477_337+479del)
c.448+477_448+479del (n.448+477_448+479del)
c.617_619del (p.Val206del)
 dbSNP gnomAD v2 gnomAD v4
15g.74893276_74893281delCA2629530513MPIc.626_631del (p.Val209_Val210del)
c.487+474_487+479del (n.487+474_487+479del)
c.476_481del (p.Val159_Val160del)
c.*522_*527del (n.*522_*527del)
c.566_571del (p.Val189_Val190del)
c.255+1787_255+1792del (n.255+1787_255+1792del)
c.337+474_337+479del (n.337+474_337+479del)
c.448+474_448+479del (n.448+474_448+479del)
c.614_619del (p.Val205_Val206del)
 gnomAD v4
15g.74893272G>ACA393174688MPIc.622G>A (p.Val208Met)
c.487+470G>A (n.487+470G>A)
c.472G>A (p.Val158Met)
c.*518G>A (n.*518G>A)
c.562G>A (p.Val188Met)
c.255+1783G>A (n.255+1783G>A)
c.337+470G>A (n.337+470G>A)
c.448+470G>A (n.448+470G>A)
c.610G>A (p.Val204Met)
 gnomAD v4
15g.74893272G>CCA393174686MPIc.622G>C (p.Val208Leu)
c.487+470G>C (n.487+470G>C)
c.472G>C (p.Val158Leu)
c.*518G>C (n.*518G>C)
c.562G>C (p.Val188Leu)
c.255+1783G>C (n.255+1783G>C)
c.337+470G>C (n.337+470G>C)
c.448+470G>C (n.448+470G>C)
c.610G>C (p.Val204Leu)
15g.74893272G=CA2187897369MPIc.622G= (p.Val208=)
c.487+470G= (n.487+470G=)
c.472G= (p.Val158=)
c.*518G= (n.*518G=)
c.562G= (p.Val188=)
c.255+1783G= (n.255+1783G=)
c.337+470G= (n.337+470G=)
c.448+470G= (n.448+470G=)
c.610G= (p.Val204=)
15g.74893272G>TCA393174685MPIc.622G>T (p.Val208Leu)
c.487+470G>T (n.487+470G>T)
c.472G>T (p.Val158Leu)
c.*518G>T (n.*518G>T)
c.562G>T (p.Val188Leu)
c.255+1783G>T (n.255+1783G>T)
c.337+470G>T (n.337+470G>T)
c.448+470G>T (n.448+470G>T)
c.610G>T (p.Val204Leu)
 dbSNP gnomAD v4
15g.74893273T>ACA393174690MPIc.623T>A (p.Val208Glu)
c.487+471T>A (n.487+471T>A)
c.473T>A (p.Val158Glu)
c.*519T>A (n.*519T>A)
c.563T>A (p.Val188Glu)
c.255+1784T>A (n.255+1784T>A)
c.337+471T>A (n.337+471T>A)
c.448+471T>A (n.448+471T>A)
c.611T>A (p.Val204Glu)
15g.74893273T>CCA393174692MPIc.623T>C (p.Val208Ala)
c.487+471T>C (n.487+471T>C)
c.473T>C (p.Val158Ala)
c.*519T>C (n.*519T>C)
c.563T>C (p.Val188Ala)
c.255+1784T>C (n.255+1784T>C)
c.337+471T>C (n.337+471T>C)
c.448+471T>C (n.448+471T>C)
c.611T>C (p.Val204Ala)
 gnomAD v4
15g.74893273T>GCA393174694MPIc.623T>G (p.Val208Gly)
c.487+471T>G (n.487+471T>G)
c.473T>G (p.Val158Gly)
c.*519T>G (n.*519T>G)
c.563T>G (p.Val188Gly)
c.255+1784T>G (n.255+1784T>G)
c.337+471T>G (n.337+471T>G)
c.448+471T>G (n.448+471T>G)
c.611T>G (p.Val204Gly)
 gnomAD v4
15g.74893274G>ACA491491329MPIc.624G>A (p.Val208=)
c.487+472G>A (n.487+472G>A)
c.474G>A (p.Val158=)
c.*520G>A (n.*520G>A)
c.564G>A (p.Val188=)
c.255+1785G>A (n.255+1785G>A)
c.337+472G>A (n.337+472G>A)
c.448+472G>A (n.448+472G>A)
c.612G>A (p.Val204=)
15g.74893274G>CCA491491330MPIc.624G>C (p.Val208=)
c.487+472G>C (n.487+472G>C)
c.474G>C (p.Val158=)
c.*520G>C (n.*520G>C)
c.564G>C (p.Val188=)
c.255+1785G>C (n.255+1785G>C)
c.337+472G>C (n.337+472G>C)
c.448+472G>C (n.448+472G>C)
c.612G>C (p.Val204=)
15g.74893274G>TCA491491331MPIc.624G>T (p.Val208=)
c.487+472G>T (n.487+472G>T)
c.474G>T (p.Val158=)
c.*520G>T (n.*520G>T)
c.564G>T (p.Val188=)
c.255+1785G>T (n.255+1785G>T)
c.337+472G>T (n.337+472G>T)
c.448+472G>T (n.448+472G>T)
c.612G>T (p.Val204=)
15g.74893275G>ACA393174696MPIc.625G>A (p.Val209Met)
c.487+473G>A (n.487+473G>A)
c.475G>A (p.Val159Met)
c.*521G>A (n.*521G>A)
c.565G>A (p.Val189Met)
c.255+1786G>A (n.255+1786G>A)
c.337+473G>A (n.337+473G>A)
c.448+473G>A (n.448+473G>A)
c.613G>A (p.Val205Met)
15g.74893275G>CCA393174698MPIc.625G>C (p.Val209Leu)
c.487+473G>C (n.487+473G>C)
c.475G>C (p.Val159Leu)
c.*521G>C (n.*521G>C)
c.565G>C (p.Val189Leu)
c.255+1786G>C (n.255+1786G>C)
c.337+473G>C (n.337+473G>C)
c.448+473G>C (n.448+473G>C)
c.613G>C (p.Val205Leu)
15g.74893275G>TCA393174700MPIc.625G>T (p.Val209Leu)
c.487+473G>T (n.487+473G>T)
c.475G>T (p.Val159Leu)
c.*521G>T (n.*521G>T)
c.565G>T (p.Val189Leu)
c.255+1786G>T (n.255+1786G>T)
c.337+473G>T (n.337+473G>T)
c.448+473G>T (n.448+473G>T)
c.613G>T (p.Val205Leu)
15g.74893276T>ACA393174702MPIc.626T>A (p.Val209Glu)
c.487+474T>A (n.487+474T>A)
c.476T>A (p.Val159Glu)
c.*522T>A (n.*522T>A)
c.566T>A (p.Val189Glu)
c.255+1787T>A (n.255+1787T>A)
c.337+474T>A (n.337+474T>A)
c.448+474T>A (n.448+474T>A)
c.614T>A (p.Val205Glu)
15g.74893276T>CCA393174704MPIc.626T>C (p.Val209Ala)
c.487+474T>C (n.487+474T>C)
c.476T>C (p.Val159Ala)
c.*522T>C (n.*522T>C)
c.566T>C (p.Val189Ala)
c.255+1787T>C (n.255+1787T>C)
c.337+474T>C (n.337+474T>C)
c.448+474T>C (n.448+474T>C)
c.614T>C (p.Val205Ala)
 gnomAD v4
15g.74893276T>GCA393174706MPIc.626T>G (p.Val209Gly)
c.487+474T>G (n.487+474T>G)
c.476T>G (p.Val159Gly)
c.*522T>G (n.*522T>G)
c.566T>G (p.Val189Gly)
c.255+1787T>G (n.255+1787T>G)
c.337+474T>G (n.337+474T>G)
c.448+474T>G (n.448+474T>G)
c.614T>G (p.Val205Gly)
15g.74893277G>ACA491491332MPIc.627G>A (p.Val209=)
c.487+475G>A (n.487+475G>A)
c.477G>A (p.Val159=)
c.*523G>A (n.*523G>A)
c.567G>A (p.Val189=)
c.255+1788G>A (n.255+1788G>A)
c.337+475G>A (n.337+475G>A)
c.448+475G>A (n.448+475G>A)
c.615G>A (p.Val205=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.74893277G>CCA491491333MPIc.627G>C (p.Val209=)
c.487+475G>C (n.487+475G>C)
c.477G>C (p.Val159=)
c.*523G>C (n.*523G>C)
c.567G>C (p.Val189=)
c.255+1788G>C (n.255+1788G>C)
c.337+475G>C (n.337+475G>C)
c.448+475G>C (n.448+475G>C)
c.615G>C (p.Val205=)
15g.74893277G=CA2187897371MPIc.627G= (p.Val209=)
c.487+475G= (n.487+475G=)
c.477G= (p.Val159=)
c.*523G= (n.*523G=)
c.567G= (p.Val189=)
c.255+1788G= (n.255+1788G=)
c.337+475G= (n.337+475G=)
c.448+475G= (n.448+475G=)
c.615G= (p.Val205=)
15g.74893277G>TCA272823597MPIc.627G>T (p.Val209=)
c.487+475G>T (n.487+475G>T)
c.477G>T (p.Val159=)
c.*523G>T (n.*523G>T)
c.567G>T (p.Val189=)
c.255+1788G>T (n.255+1788G>T)
c.337+475G>T (n.337+475G>T)
c.448+475G>T (n.448+475G>T)
c.615G>T (p.Val205=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893278G>ACA7662476MPIc.628G>A (p.Val210Met)
c.487+476G>A (n.487+476G>A)
c.478G>A (p.Val160Met)
c.*524G>A (n.*524G>A)
c.568G>A (p.Val190Met)
c.255+1789G>A (n.255+1789G>A)
c.337+476G>A (n.337+476G>A)
c.448+476G>A (n.448+476G>A)
c.616G>A (p.Val206Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893278G>CCA393174709MPIc.628G>C (p.Val210Leu)
c.487+476G>C (n.487+476G>C)
c.478G>C (p.Val160Leu)
c.*524G>C (n.*524G>C)
c.568G>C (p.Val190Leu)
c.255+1789G>C (n.255+1789G>C)
c.337+476G>C (n.337+476G>C)
c.448+476G>C (n.448+476G>C)
c.616G>C (p.Val206Leu)
15g.74893278G=CA2187897378MPIc.628G= (p.Val210=)
c.487+476G= (n.487+476G=)
c.478G= (p.Val160=)
c.*524G= (n.*524G=)
c.568G= (p.Val190=)
c.255+1789G= (n.255+1789G=)
c.337+476G= (n.337+476G=)
c.448+476G= (n.448+476G=)
c.616G= (p.Val206=)
15g.74893278G>TCA393174711MPIc.628G>T (p.Val210Leu)
c.487+476G>T (n.487+476G>T)
c.478G>T (p.Val160Leu)
c.*524G>T (n.*524G>T)
c.568G>T (p.Val190Leu)
c.255+1789G>T (n.255+1789G>T)
c.337+476G>T (n.337+476G>T)
c.448+476G>T (n.448+476G>T)
c.616G>T (p.Val206Leu)
15g.74893278_74893279delinsGTCA2187897379MPIc.628_629delinsGT (p.Val210=)
c.487+476_487+477delinsGT (n.487+476_487+477delinsGT)
c.478_479delinsGT (p.Val160=)
c.*524_*525delinsGT (n.*524_*525delinsGT)
c.568_569delinsGT (p.Val190=)
c.255+1789_255+1790delinsGT (n.255+1789_255+1790delinsGT)
c.337+476_337+477delinsGT (n.337+476_337+477delinsGT)
c.448+476_448+477delinsGT (n.448+476_448+477delinsGT)
c.616_617delinsGT (p.Val206=)
15g.74893279_74893280delCA912992715MPIc.629_630del (p.Val210GlyfsTer?)
c.487+477_487+478del (n.487+477_487+478del)
c.479_480del (p.Val160GlyfsTer?)
c.*525_*526del (n.*525_*526del)
c.569_570del (p.Val190GlyfsTer?)
c.255+1790_255+1791del (n.255+1790_255+1791del)
c.337+477_337+478del (n.337+477_337+478del)
c.448+477_448+478del (n.448+477_448+478del)
c.617_618del (p.Val206GlyfsTer?)
15g.74893279delCA658825000MPIc.629del (p.Val210GlyfsTer8)
c.487+477del (n.487+477del)
c.479del (p.Val160GlyfsTer8)
c.*525del (n.*525del)
c.569del (p.Val190GlyfsTer8)
c.255+1790del (n.255+1790del)
c.337+477del (n.337+477del)
c.448+477del (n.448+477del)
c.617del (p.Val206GlyfsTer8)
 ClinVar dbSNP
15g.74893279T>ACA393174717MPIc.629T>A (p.Val210Glu)
c.487+477T>A (n.487+477T>A)
c.479T>A (p.Val160Glu)
c.*525T>A (n.*525T>A)
c.569T>A (p.Val190Glu)
c.255+1790T>A (n.255+1790T>A)
c.337+477T>A (n.337+477T>A)
c.448+477T>A (n.448+477T>A)
c.617T>A (p.Val206Glu)
15g.74893279T>CCA393174715MPIc.629T>C (p.Val210Ala)
c.487+477T>C (n.487+477T>C)
c.479T>C (p.Val160Ala)
c.*525T>C (n.*525T>C)
c.569T>C (p.Val190Ala)
c.255+1790T>C (n.255+1790T>C)
c.337+477T>C (n.337+477T>C)
c.448+477T>C (n.448+477T>C)
c.617T>C (p.Val206Ala)
15g.74893279T>GCA393174713MPIc.629T>G (p.Val210Gly)
c.487+477T>G (n.487+477T>G)
c.479T>G (p.Val160Gly)
c.*525T>G (n.*525T>G)
c.569T>G (p.Val190Gly)
c.255+1790T>G (n.255+1790T>G)
c.337+477T>G (n.337+477T>G)
c.448+477T>G (n.448+477T>G)
c.617T>G (p.Val206Gly)
15g.74893279_74893280delinsTGCA2187897385MPIc.629_630delinsTG (p.Val210=)
c.487+477_487+478delinsTG (n.487+477_487+478delinsTG)
c.479_480delinsTG (p.Val160=)
c.*525_*526delinsTG (n.*525_*526delinsTG)
c.569_570delinsTG (p.Val190=)
c.255+1790_255+1791delinsTG (n.255+1790_255+1791delinsTG)
c.337+477_337+478delinsTG (n.337+477_337+478delinsTG)
c.448+477_448+478delinsTG (n.448+477_448+478delinsTG)
c.617_618delinsTG (p.Val206=)
15g.74893280G>ACA7662477MPIc.630G>A (p.Val210=)
c.487+478G>A (n.487+478G>A)
c.480G>A (p.Val160=)
c.*526G>A (n.*526G>A)
c.570G>A (p.Val190=)
c.255+1791G>A (n.255+1791G>A)
c.337+478G>A (n.337+478G>A)
c.448+478G>A (n.448+478G>A)
c.618G>A (p.Val206=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893280G>CCA491491334MPIc.630G>C (p.Val210=)
c.487+478G>C (n.487+478G>C)
c.480G>C (p.Val160=)
c.*526G>C (n.*526G>C)
c.570G>C (p.Val190=)
c.255+1791G>C (n.255+1791G>C)
c.337+478G>C (n.337+478G>C)
c.448+478G>C (n.448+478G>C)
c.618G>C (p.Val206=)
15g.74893280G=CA2187897390MPIc.630G= (p.Val210=)
c.487+478G= (n.487+478G=)
c.480G= (p.Val160=)
c.*526G= (n.*526G=)
c.570G= (p.Val190=)
c.255+1791G= (n.255+1791G=)
c.337+478G= (n.337+478G=)
c.448+478G= (n.448+478G=)
c.618G= (p.Val206=)
15g.74893280G>TCA491491335MPIc.630G>T (p.Val210=)
c.487+478G>T (n.487+478G>T)
c.480G>T (p.Val160=)
c.*526G>T (n.*526G>T)
c.570G>T (p.Val190=)
c.255+1791G>T (n.255+1791G>T)
c.337+478G>T (n.337+478G>T)
c.448+478G>T (n.448+478G>T)
c.618G>T (p.Val206=)
15g.74893281delCA715704554MPIc.631del (p.Glu211AsnfsTer7)
c.487+479del (n.487+479del)
c.481del (p.Glu161AsnfsTer7)
c.*527del (n.*527del)
c.571del (p.Glu191AsnfsTer7)
c.255+1792del (n.255+1792del)
c.337+479del (n.337+479del)
c.448+479del (n.448+479del)
c.619del (p.Glu207AsnfsTer7)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.74893281G>ACA7662478MPIc.631G>A (p.Glu211Lys)
c.487+479G>A (n.487+479G>A)
c.481G>A (p.Glu161Lys)
c.*527G>A (n.*527G>A)
c.571G>A (p.Glu191Lys)
c.255+1792G>A (n.255+1792G>A)
c.337+479G>A (n.337+479G>A)
c.448+479G>A (n.448+479G>A)
c.619G>A (p.Glu207Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893281G>CCA393174720MPIc.631G>C (p.Glu211Gln)
c.487+479G>C (n.487+479G>C)
c.481G>C (p.Glu161Gln)
c.*527G>C (n.*527G>C)
c.571G>C (p.Glu191Gln)
c.255+1792G>C (n.255+1792G>C)
c.337+479G>C (n.337+479G>C)
c.448+479G>C (n.448+479G>C)
c.619G>C (p.Glu207Gln)
15g.74893281G=CA2187897395MPIc.631G= (p.Glu211=)
c.487+479G= (n.487+479G=)
c.481G= (p.Glu161=)
c.*527G= (n.*527G=)
c.571G= (p.Glu191=)
c.255+1792G= (n.255+1792G=)
c.337+479G= (n.337+479G=)
c.448+479G= (n.448+479G=)
c.619G= (p.Glu207=)
15g.74893281G>TCA393174722MPIc.631G>T (p.Glu211Ter)
c.487+479G>T (n.487+479G>T)
c.481G>T (p.Glu161Ter)
c.*527G>T (n.*527G>T)
c.571G>T (p.Glu191Ter)
c.255+1792G>T (n.255+1792G>T)
c.337+479G>T (n.337+479G>T)
c.448+479G>T (n.448+479G>T)
c.619G>T (p.Glu207Ter)
15g.74893282A>CCA393174724MPIc.632A>C (p.Glu211Ala)
c.487+480A>C (n.487+480A>C)
c.482A>C (p.Glu161Ala)
c.*528A>C (n.*528A>C)
c.572A>C (p.Glu191Ala)
c.255+1793A>C (n.255+1793A>C)
c.337+480A>C (n.337+480A>C)
c.448+480A>C (n.448+480A>C)
c.620A>C (p.Glu207Ala)
15g.74893282A>GCA393174726MPIc.632A>G (p.Glu211Gly)
c.487+480A>G (n.487+480A>G)
c.482A>G (p.Glu161Gly)
c.*528A>G (n.*528A>G)
c.572A>G (p.Glu191Gly)
c.255+1793A>G (n.255+1793A>G)
c.337+480A>G (n.337+480A>G)
c.448+480A>G (n.448+480A>G)
c.620A>G (p.Glu207Gly)
15g.74893282A>TCA393174727MPIc.632A>T (p.Glu211Val)
c.487+480A>T (n.487+480A>T)
c.482A>T (p.Glu161Val)
c.*528A>T (n.*528A>T)
c.572A>T (p.Glu191Val)
c.255+1793A>T (n.255+1793A>T)
c.337+480A>T (n.337+480A>T)
c.448+480A>T (n.448+480A>T)
c.620A>T (p.Glu207Val)
15g.74893283A>CCA393174729MPIc.633A>C (p.Glu211Asp)
c.487+481A>C (n.487+481A>C)
c.483A>C (p.Glu161Asp)
c.*529A>C (n.*529A>C)
c.573A>C (p.Glu191Asp)
c.255+1794A>C (n.255+1794A>C)
c.337+481A>C (n.337+481A>C)
c.448+481A>C (n.448+481A>C)
c.621A>C (p.Glu207Asp)
15g.74893283A>GCA491491336MPIc.633A>G (p.Glu211=)
c.487+481A>G (n.487+481A>G)
c.483A>G (p.Glu161=)
c.*529A>G (n.*529A>G)
c.573A>G (p.Glu191=)
c.255+1794A>G (n.255+1794A>G)
c.337+481A>G (n.337+481A>G)
c.448+481A>G (n.448+481A>G)
c.621A>G (p.Glu207=)
 ClinVar dbSNP
15g.74893283A>TCA393174731MPIc.633A>T (p.Glu211Asp)
c.487+481A>T (n.487+481A>T)
c.483A>T (p.Glu161Asp)
c.*529A>T (n.*529A>T)
c.573A>T (p.Glu191Asp)
c.255+1794A>T (n.255+1794A>T)
c.337+481A>T (n.337+481A>T)
c.448+481A>T (n.448+481A>T)
c.621A>T (p.Glu207Asp)
15g.74893284C>ACA393174733MPIc.634C>A (p.Gln212Lys)
c.487+482C>A (n.487+482C>A)
c.484C>A (p.Gln162Lys)
c.*530C>A (n.*530C>A)
c.574C>A (p.Gln192Lys)
c.255+1795C>A (n.255+1795C>A)
c.337+482C>A (n.337+482C>A)
c.448+482C>A (n.448+482C>A)
c.622C>A (p.Gln208Lys)
 gnomAD v4
15g.74893284C=CA2187897401MPIc.634C= (p.Gln212=)
c.487+482C= (n.487+482C=)
c.484C= (p.Gln162=)
c.*530C= (n.*530C=)
c.574C= (p.Gln192=)
c.255+1795C= (n.255+1795C=)
c.337+482C= (n.337+482C=)
c.448+482C= (n.448+482C=)
c.622C= (p.Gln208=)
15g.74893284C>GCA393174734MPIc.634C>G (p.Gln212Glu)
c.487+482C>G (n.487+482C>G)
c.484C>G (p.Gln162Glu)
c.*530C>G (n.*530C>G)
c.574C>G (p.Gln192Glu)
c.255+1795C>G (n.255+1795C>G)
c.337+482C>G (n.337+482C>G)
c.448+482C>G (n.448+482C>G)
c.622C>G (p.Gln208Glu)
 dbSNP gnomAD v2 gnomAD v4
15g.74893284C>TCA7662479MPIc.634C>T (p.Gln212Ter)
c.487+482C>T (n.487+482C>T)
c.484C>T (p.Gln162Ter)
c.*530C>T (n.*530C>T)
c.574C>T (p.Gln192Ter)
c.255+1795C>T (n.255+1795C>T)
c.337+482C>T (n.337+482C>T)
c.448+482C>T (n.448+482C>T)
c.622C>T (p.Gln208Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893285A>CCA393174742MPIc.635A>C (p.Gln212Pro)
c.487+483A>C (n.487+483A>C)
c.485A>C (p.Gln162Pro)
c.*531A>C (n.*531A>C)
c.575A>C (p.Gln192Pro)
c.255+1796A>C (n.255+1796A>C)
c.337+483A>C (n.337+483A>C)
c.448+483A>C (n.448+483A>C)
c.623A>C (p.Gln208Pro)
15g.74893285A>GCA393174740MPIc.635A>G (p.Gln212Arg)
c.487+483A>G (n.487+483A>G)
c.485A>G (p.Gln162Arg)
c.*531A>G (n.*531A>G)
c.575A>G (p.Gln192Arg)
c.255+1796A>G (n.255+1796A>G)
c.337+483A>G (n.337+483A>G)
c.448+483A>G (n.448+483A>G)
c.623A>G (p.Gln208Arg)
15g.74893285A>TCA393174738MPIc.635A>T (p.Gln212Leu)
c.487+483A>T (n.487+483A>T)
c.485A>T (p.Gln162Leu)
c.*531A>T (n.*531A>T)
c.575A>T (p.Gln192Leu)
c.255+1796A>T (n.255+1796A>T)
c.337+483A>T (n.337+483A>T)
c.448+483A>T (n.448+483A>T)
c.623A>T (p.Gln208Leu)
15g.74893286G>ACA491491337MPIc.636G>A (p.Gln212=)
c.487+484G>A (n.487+484G>A)
c.486G>A (p.Gln162=)
c.*532G>A (n.*532G>A)
c.576G>A (p.Gln192=)
c.255+1797G>A (n.255+1797G>A)
c.337+484G>A (n.337+484G>A)
c.448+484G>A (n.448+484G>A)
c.624G>A (p.Gln208=)
15g.74893286G>CCA393174744MPIc.636G>C (p.Gln212His)
c.487+484G>C (n.487+484G>C)
c.486G>C (p.Gln162His)
c.*532G>C (n.*532G>C)
c.576G>C (p.Gln192His)
c.255+1797G>C (n.255+1797G>C)
c.337+484G>C (n.337+484G>C)
c.448+484G>C (n.448+484G>C)
c.624G>C (p.Gln208His)
15g.74893286G>TCA393174746MPIc.636G>T (p.Gln212His)
c.487+484G>T (n.487+484G>T)
c.486G>T (p.Gln162His)
c.*532G>T (n.*532G>T)
c.576G>T (p.Gln192His)
c.255+1797G>T (n.255+1797G>T)
c.337+484G>T (n.337+484G>T)
c.448+484G>T (n.448+484G>T)
c.624G>T (p.Gln208His)
15g.74893287C>ACA393174747MPIc.637C>A (p.Leu213Ile)
c.487+485C>A (n.487+485C>A)
c.487C>A (p.Leu163Ile)
c.*533C>A (n.*533C>A)
c.577C>A (p.Leu193Ile)
c.255+1798C>A (n.255+1798C>A)
c.337+485C>A (n.337+485C>A)
c.448+485C>A (n.448+485C>A)
c.625C>A (p.Leu209Ile)
15g.74893287C>GCA393174749MPIc.637C>G (p.Leu213Val)
c.487+485C>G (n.487+485C>G)
c.487C>G (p.Leu163Val)
c.*533C>G (n.*533C>G)
c.577C>G (p.Leu193Val)
c.255+1798C>G (n.255+1798C>G)
c.337+485C>G (n.337+485C>G)
c.448+485C>G (n.448+485C>G)
c.625C>G (p.Leu209Val)
15g.74893287C>TCA393174750MPIc.637C>T (p.Leu213Phe)
c.487+485C>T (n.487+485C>T)
c.487C>T (p.Leu163Phe)
c.*533C>T (n.*533C>T)
c.577C>T (p.Leu193Phe)
c.255+1798C>T (n.255+1798C>T)
c.337+485C>T (n.337+485C>T)
c.448+485C>T (n.448+485C>T)
c.625C>T (p.Leu209Phe)
 gnomAD v4
15g.74893288T>ACA393174752MPIc.638T>A (p.Leu213His)
c.487+486T>A (n.487+486T>A)
c.488T>A (p.Leu163His)
c.*534T>A (n.*534T>A)
c.578T>A (p.Leu193His)
c.255+1799T>A (n.255+1799T>A)
c.337+486T>A (n.337+486T>A)
c.448+486T>A (n.448+486T>A)
c.626T>A (p.Leu209His)
15g.74893288T>CCA393174754MPIc.638T>C (p.Leu213Pro)
c.487+486T>C (n.487+486T>C)
c.488T>C (p.Leu163Pro)
c.*534T>C (n.*534T>C)
c.578T>C (p.Leu193Pro)
c.255+1799T>C (n.255+1799T>C)
c.337+486T>C (n.337+486T>C)
c.448+486T>C (n.448+486T>C)
c.626T>C (p.Leu209Pro)
15g.74893288T>GCA393174755MPIc.638T>G (p.Leu213Arg)
c.487+486T>G (n.487+486T>G)
c.488T>G (p.Leu163Arg)
c.*534T>G (n.*534T>G)
c.578T>G (p.Leu193Arg)
c.255+1799T>G (n.255+1799T>G)
c.337+486T>G (n.337+486T>G)
c.448+486T>G (n.448+486T>G)
c.626T>G (p.Leu209Arg)
15g.74893289C>ACA491491338MPIc.639C>A (p.Leu213=)
c.487+487C>A (n.487+487C>A)
c.489C>A (p.Leu163=)
c.*535C>A (n.*535C>A)
c.579C>A (p.Leu193=)
c.255+1800C>A (n.255+1800C>A)
c.337+487C>A (n.337+487C>A)
c.448+487C>A (n.448+487C>A)
c.627C>A (p.Leu209=)
15g.74893289C=CA2187897407MPIc.639C= (p.Leu213=)
c.487+487C= (n.487+487C=)
c.489C= (p.Leu163=)
c.*535C= (n.*535C=)
c.579C= (p.Leu193=)
c.255+1800C= (n.255+1800C=)
c.337+487C= (n.337+487C=)
c.448+487C= (n.448+487C=)
c.627C= (p.Leu209=)
15g.74893289C>GCA491491339MPIc.639C>G (p.Leu213=)
c.487+487C>G (n.487+487C>G)
c.489C>G (p.Leu163=)
c.*535C>G (n.*535C>G)
c.579C>G (p.Leu193=)
c.255+1800C>G (n.255+1800C>G)
c.337+487C>G (n.337+487C>G)
c.448+487C>G (n.448+487C>G)
c.627C>G (p.Leu209=)
15g.74893289C>TCA7662480MPIc.639C>T (p.Leu213=)
c.487+487C>T (n.487+487C>T)
c.489C>T (p.Leu163=)
c.*535C>T (n.*535C>T)
c.579C>T (p.Leu193=)
c.255+1800C>T (n.255+1800C>T)
c.337+487C>T (n.337+487C>T)
c.448+487C>T (n.448+487C>T)
c.627C>T (p.Leu209=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893290A=CA2187897413MPIc.640A= (p.Asn214=)
c.487+488A= (n.487+488A=)
c.490A= (p.Asn164=)
c.*536A= (n.*536A=)
c.580A= (p.Asn194=)
c.255+1801A= (n.255+1801A=)
c.337+488A= (n.337+488A=)
c.448+488A= (n.448+488A=)
c.628A= (p.Asn210=)
15g.74893290A>CCA393174759MPIc.640A>C (p.Asn214His)
c.487+488A>C (n.487+488A>C)
c.490A>C (p.Asn164His)
c.*536A>C (n.*536A>C)
c.580A>C (p.Asn194His)
c.255+1801A>C (n.255+1801A>C)
c.337+488A>C (n.337+488A>C)
c.448+488A>C (n.448+488A>C)
c.628A>C (p.Asn210His)
 gnomAD v4
15g.74893290A>GCA393174761MPIc.640A>G (p.Asn214Asp)
c.487+488A>G (n.487+488A>G)
c.490A>G (p.Asn164Asp)
c.*536A>G (n.*536A>G)
c.580A>G (p.Asn194Asp)
c.255+1801A>G (n.255+1801A>G)
c.337+488A>G (n.337+488A>G)
c.448+488A>G (n.448+488A>G)
c.628A>G (p.Asn210Asp)
15g.74893290A>TCA7662481MPIc.640A>T (p.Asn214Tyr)
c.487+488A>T (n.487+488A>T)
c.490A>T (p.Asn164Tyr)
c.*536A>T (n.*536A>T)
c.580A>T (p.Asn194Tyr)
c.255+1801A>T (n.255+1801A>T)
c.337+488A>T (n.337+488A>T)
c.448+488A>T (n.448+488A>T)
c.628A>T (p.Asn210Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893291A=CA2187897415MPIc.641A= (p.Asn214=)
c.487+489A= (n.487+489A=)
c.491A= (p.Asn164=)
c.*537A= (n.*537A=)
c.581A= (p.Asn194=)
c.255+1802A= (n.255+1802A=)
c.337+489A= (n.337+489A=)
c.448+489A= (n.448+489A=)
c.629A= (p.Asn210=)
15g.74893291A>CCA393174764MPIc.641A>C (p.Asn214Thr)
c.487+489A>C (n.487+489A>C)
c.491A>C (p.Asn164Thr)
c.*537A>C (n.*537A>C)
c.581A>C (p.Asn194Thr)
c.255+1802A>C (n.255+1802A>C)
c.337+489A>C (n.337+489A>C)
c.448+489A>C (n.448+489A>C)
c.629A>C (p.Asn210Thr)
15g.74893291A>GCA393174766MPIc.641A>G (p.Asn214Ser)
c.487+489A>G (n.487+489A>G)
c.491A>G (p.Asn164Ser)
c.*537A>G (n.*537A>G)
c.581A>G (p.Asn194Ser)
c.255+1802A>G (n.255+1802A>G)
c.337+489A>G (n.337+489A>G)
c.448+489A>G (n.448+489A>G)
c.629A>G (p.Asn210Ser)
 dbSNP gnomAD v2 gnomAD v4
15g.74893291A>TCA393174768MPIc.641A>T (p.Asn214Ile)
c.487+489A>T (n.487+489A>T)
c.491A>T (p.Asn164Ile)
c.*537A>T (n.*537A>T)
c.581A>T (p.Asn194Ile)
c.255+1802A>T (n.255+1802A>T)
c.337+489A>T (n.337+489A>T)
c.448+489A>T (n.448+489A>T)
c.629A>T (p.Asn210Ile)
15g.74893292C>ACA393174772MPIc.642C>A (p.Asn214Lys)
c.487+490C>A (n.487+490C>A)
c.492C>A (p.Asn164Lys)
c.*538C>A (n.*538C>A)
c.582C>A (p.Asn194Lys)
c.255+1803C>A (n.255+1803C>A)
c.337+490C>A (n.337+490C>A)
c.448+490C>A (n.448+490C>A)
c.630C>A (p.Asn210Lys)
 gnomAD v4
15g.74893292C>GCA393174770MPIc.642C>G (p.Asn214Lys)
c.487+490C>G (n.487+490C>G)
c.492C>G (p.Asn164Lys)
c.*538C>G (n.*538C>G)
c.582C>G (p.Asn194Lys)
c.255+1803C>G (n.255+1803C>G)
c.337+490C>G (n.337+490C>G)
c.448+490C>G (n.448+490C>G)
c.630C>G (p.Asn210Lys)
15g.74893292C>TCA491491340MPIc.642C>T (p.Asn214=)
c.487+490C>T (n.487+490C>T)
c.492C>T (p.Asn164=)
c.*538C>T (n.*538C>T)
c.582C>T (p.Asn194=)
c.255+1803C>T (n.255+1803C>T)
c.337+490C>T (n.337+490C>T)
c.448+490C>T (n.448+490C>T)
c.630C>T (p.Asn210=)
15g.74893293C>ACA393174774MPIc.643C>A (p.Leu215Met)
c.487+491C>A (n.487+491C>A)
c.493C>A (p.Leu165Met)
c.*539C>A (n.*539C>A)
c.583C>A (p.Leu195Met)
c.255+1804C>A (n.255+1804C>A)
c.337+491C>A (n.337+491C>A)
c.448+491C>A (n.448+491C>A)
c.631C>A (p.Leu211Met)
15g.74893293C=CA2187897417MPIc.643C= (p.Leu215=)
c.487+491C= (n.487+491C=)
c.493C= (p.Leu165=)
c.*539C= (n.*539C=)
c.583C= (p.Leu195=)
c.255+1804C= (n.255+1804C=)
c.337+491C= (n.337+491C=)
c.448+491C= (n.448+491C=)
c.631C= (p.Leu211=)
15g.74893293C>GCA393174776MPIc.643C>G (p.Leu215Val)
c.487+491C>G (n.487+491C>G)
c.493C>G (p.Leu165Val)
c.*539C>G (n.*539C>G)
c.583C>G (p.Leu195Val)
c.255+1804C>G (n.255+1804C>G)
c.337+491C>G (n.337+491C>G)
c.448+491C>G (n.448+491C>G)
c.631C>G (p.Leu211Val)
15g.74893293C>TCA491491341MPIc.643C>T (p.Leu215=)
c.487+491C>T (n.487+491C>T)
c.493C>T (p.Leu165=)
c.*539C>T (n.*539C>T)
c.583C>T (p.Leu195=)
c.255+1804C>T (n.255+1804C>T)
c.337+491C>T (n.337+491C>T)
c.448+491C>T (n.448+491C>T)
c.631C>T (p.Leu211=)
 ClinVar dbSNP COSMIC
15g.74893294T>ACA393174779MPIc.644T>A (p.Leu215Gln)
c.487+492T>A (n.487+492T>A)
c.494T>A (p.Leu165Gln)
c.*540T>A (n.*540T>A)
c.584T>A (p.Leu195Gln)
c.255+1805T>A (n.255+1805T>A)
c.337+492T>A (n.337+492T>A)
c.448+492T>A (n.448+492T>A)
c.632T>A (p.Leu211Gln)
15g.74893294T>CCA393174780MPIc.644T>C (p.Leu215Pro)
c.487+492T>C (n.487+492T>C)
c.494T>C (p.Leu165Pro)
c.*540T>C (n.*540T>C)
c.584T>C (p.Leu195Pro)
c.255+1805T>C (n.255+1805T>C)
c.337+492T>C (n.337+492T>C)
c.448+492T>C (n.448+492T>C)
c.632T>C (p.Leu211Pro)
15g.74893294T>GCA393174782MPIc.644T>G (p.Leu215Arg)
c.487+492T>G (n.487+492T>G)
c.494T>G (p.Leu165Arg)
c.*540T>G (n.*540T>G)
c.584T>G (p.Leu195Arg)
c.255+1805T>G (n.255+1805T>G)
c.337+492T>G (n.337+492T>G)
c.448+492T>G (n.448+492T>G)
c.632T>G (p.Leu211Arg)
15g.74893295G>ACA491491342MPIc.645G>A (p.Leu215=)
c.487+493G>A (n.487+493G>A)
c.495G>A (p.Leu165=)
c.*541G>A (n.*541G>A)
c.585G>A (p.Leu195=)
c.255+1806G>A (n.255+1806G>A)
c.337+493G>A (n.337+493G>A)
c.448+493G>A (n.448+493G>A)
c.633G>A (p.Leu211=)
15g.74893295G>CCA491491343MPIc.645G>C (p.Leu215=)
c.487+493G>C (n.487+493G>C)
c.495G>C (p.Leu165=)
c.*541G>C (n.*541G>C)
c.585G>C (p.Leu195=)
c.255+1806G>C (n.255+1806G>C)
c.337+493G>C (n.337+493G>C)
c.448+493G>C (n.448+493G>C)
c.633G>C (p.Leu211=)
 gnomAD v4
15g.74893295G>TCA491491344MPIc.645G>T (p.Leu215=)
c.487+493G>T (n.487+493G>T)
c.495G>T (p.Leu165=)
c.*541G>T (n.*541G>T)
c.585G>T (p.Leu195=)
c.255+1806G>T (n.255+1806G>T)
c.337+493G>T (n.337+493G>T)
c.448+493G>T (n.448+493G>T)
c.633G>T (p.Leu211=)
15g.74893297_74893300delCA2573151154MPIc.647_650del (p.Leu216Ter)
c.487+495_487+498del (n.487+495_487+498del)
c.497_500del (p.Leu166Ter)
c.*543_*546del (n.*543_*546del)
c.587_590del (p.Leu196Ter)
c.255+1808_255+1811del (n.255+1808_255+1811del)
c.337+495_337+498del (n.337+495_337+498del)
c.448+495_448+498del (n.448+495_448+498del)
c.635_638del (p.Leu212Ter)
 ClinVar dbSNP
15g.74893296T>ACA393174784MPIc.646T>A (p.Leu216Met)
c.487+494T>A (n.487+494T>A)
c.496T>A (p.Leu166Met)
c.*542T>A (n.*542T>A)
c.586T>A (p.Leu196Met)
c.255+1807T>A (n.255+1807T>A)
c.337+494T>A (n.337+494T>A)
c.448+494T>A (n.448+494T>A)
c.634T>A (p.Leu212Met)
15g.74893296T>CCA491491345MPIc.646T>C (p.Leu216=)
c.487+494T>C (n.487+494T>C)
c.496T>C (p.Leu166=)
c.*542T>C (n.*542T>C)
c.586T>C (p.Leu196=)
c.255+1807T>C (n.255+1807T>C)
c.337+494T>C (n.337+494T>C)
c.448+494T>C (n.448+494T>C)
c.634T>C (p.Leu212=)
 gnomAD v4
15g.74893296T>GCA393174786MPIc.646T>G (p.Leu216Val)
c.487+494T>G (n.487+494T>G)
c.496T>G (p.Leu166Val)
c.*542T>G (n.*542T>G)
c.586T>G (p.Leu196Val)
c.255+1807T>G (n.255+1807T>G)
c.337+494T>G (n.337+494T>G)
c.448+494T>G (n.448+494T>G)
c.634T>G (p.Leu212Val)
15g.74893297T>ACA393174788MPIc.647T>A (p.Leu216Ter)
c.487+495T>A (n.487+495T>A)
c.497T>A (p.Leu166Ter)
c.*543T>A (n.*543T>A)
c.587T>A (p.Leu196Ter)
c.255+1808T>A (n.255+1808T>A)
c.337+495T>A (n.337+495T>A)
c.448+495T>A (n.448+495T>A)
c.635T>A (p.Leu212Ter)
15g.74893297T>CCA393174790MPIc.647T>C (p.Leu216Ser)
c.487+495T>C (n.487+495T>C)
c.497T>C (p.Leu166Ser)
c.*543T>C (n.*543T>C)
c.587T>C (p.Leu196Ser)
c.255+1808T>C (n.255+1808T>C)
c.337+495T>C (n.337+495T>C)
c.448+495T>C (n.448+495T>C)
c.635T>C (p.Leu212Ser)
15g.74893297T>GCA393174792MPIc.647T>G (p.Leu216Trp)
c.487+495T>G (n.487+495T>G)
c.497T>G (p.Leu166Trp)
c.*543T>G (n.*543T>G)
c.587T>G (p.Leu196Trp)
c.255+1808T>G (n.255+1808T>G)
c.337+495T>G (n.337+495T>G)
c.448+495T>G (n.448+495T>G)
c.635T>G (p.Leu212Trp)
15g.74893298G>ACA491491346MPIc.648G>A (p.Leu216=)
c.487+496G>A (n.487+496G>A)
c.498G>A (p.Leu166=)
c.*544G>A (n.*544G>A)
c.588G>A (p.Leu196=)
c.255+1809G>A (n.255+1809G>A)
c.337+496G>A (n.337+496G>A)
c.448+496G>A (n.448+496G>A)
c.636G>A (p.Leu212=)
15g.74893298G>CCA393174794MPIc.648G>C (p.Leu216Phe)
c.487+496G>C (n.487+496G>C)
c.498G>C (p.Leu166Phe)
c.*544G>C (n.*544G>C)
c.588G>C (p.Leu196Phe)
c.255+1809G>C (n.255+1809G>C)
c.337+496G>C (n.337+496G>C)
c.448+496G>C (n.448+496G>C)
c.636G>C (p.Leu212Phe)
15g.74893298G>TCA393174796MPIc.648G>T (p.Leu216Phe)
c.487+496G>T (n.487+496G>T)
c.498G>T (p.Leu166Phe)
c.*544G>T (n.*544G>T)
c.588G>T (p.Leu196Phe)
c.255+1809G>T (n.255+1809G>T)
c.337+496G>T (n.337+496G>T)
c.448+496G>T (n.448+496G>T)
c.636G>T (p.Leu212Phe)
15g.74893299G>ACA393174800MPIc.649G>A (p.Val217Met)
c.487+497G>A (n.487+497G>A)
c.499G>A (p.Val167Met)
c.*545G>A (n.*545G>A)
c.589G>A (p.Val197Met)
c.255+1810G>A (n.255+1810G>A)
c.337+497G>A (n.337+497G>A)
c.448+497G>A (n.448+497G>A)
c.637G>A (p.Val213Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893299G>CCA7662482MPIc.649G>C (p.Val217Leu)
c.487+497G>C (n.487+497G>C)
c.499G>C (p.Val167Leu)
c.*545G>C (n.*545G>C)
c.589G>C (p.Val197Leu)
c.255+1810G>C (n.255+1810G>C)
c.337+497G>C (n.337+497G>C)
c.448+497G>C (n.448+497G>C)
c.637G>C (p.Val213Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893299G=CA2187897421MPIc.649G= (p.Val217=)
c.487+497G= (n.487+497G=)
c.499G= (p.Val167=)
c.*545G= (n.*545G=)
c.589G= (p.Val197=)
c.255+1810G= (n.255+1810G=)
c.337+497G= (n.337+497G=)
c.448+497G= (n.448+497G=)
c.637G= (p.Val213=)
15g.74893299G>TCA393174798MPIc.649G>T (p.Val217Leu)
c.487+497G>T (n.487+497G>T)
c.499G>T (p.Val167Leu)
c.*545G>T (n.*545G>T)
c.589G>T (p.Val197Leu)
c.255+1810G>T (n.255+1810G>T)
c.337+497G>T (n.337+497G>T)
c.448+497G>T (n.448+497G>T)
c.637G>T (p.Val213Leu)
15g.74893300T>ACA393174802MPIc.650T>A (p.Val217Glu)
c.487+498T>A (n.487+498T>A)
c.500T>A (p.Val167Glu)
c.*546T>A (n.*546T>A)
c.590T>A (p.Val197Glu)
c.255+1811T>A (n.255+1811T>A)
c.337+498T>A (n.337+498T>A)
c.448+498T>A (n.448+498T>A)
c.638T>A (p.Val213Glu)
15g.74893300T>CCA393174804MPIc.650T>C (p.Val217Ala)
c.487+498T>C (n.487+498T>C)
c.500T>C (p.Val167Ala)
c.*546T>C (n.*546T>C)
c.590T>C (p.Val197Ala)
c.255+1811T>C (n.255+1811T>C)
c.337+498T>C (n.337+498T>C)
c.448+498T>C (n.448+498T>C)
c.638T>C (p.Val213Ala)
15g.74893300T>GCA393174806MPIc.650T>G (p.Val217Gly)
c.487+498T>G (n.487+498T>G)
c.500T>G (p.Val167Gly)
c.*546T>G (n.*546T>G)
c.590T>G (p.Val197Gly)
c.255+1811T>G (n.255+1811T>G)
c.337+498T>G (n.337+498T>G)
c.448+498T>G (n.448+498T>G)
c.638T>G (p.Val213Gly)
 gnomAD v4
15g.74893301G>ACA7662483MPIc.651G>A (p.Val217=)
c.487+499G>A (n.487+499G>A)
c.501G>A (p.Val167=)
c.*547G>A (n.*547G>A)
c.591G>A (p.Val197=)
c.255+1812G>A (n.255+1812G>A)
c.337+499G>A (n.337+499G>A)
c.448+499G>A (n.448+499G>A)
c.639G>A (p.Val213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893301G>CCA491491347MPIc.651G>C (p.Val217=)
c.487+499G>C (n.487+499G>C)
c.501G>C (p.Val167=)
c.*547G>C (n.*547G>C)
c.591G>C (p.Val197=)
c.255+1812G>C (n.255+1812G>C)
c.337+499G>C (n.337+499G>C)
c.448+499G>C (n.448+499G>C)
c.639G>C (p.Val213=)
15g.74893301G=CA2187897424MPIc.651G= (p.Val217=)
c.487+499G= (n.487+499G=)
c.501G= (p.Val167=)
c.*547G= (n.*547G=)
c.591G= (p.Val197=)
c.255+1812G= (n.255+1812G=)
c.337+499G= (n.337+499G=)
c.448+499G= (n.448+499G=)
c.639G= (p.Val213=)
15g.74893301G>TCA491491348MPIc.651G>T (p.Val217=)
c.487+499G>T (n.487+499G>T)
c.501G>T (p.Val167=)
c.*547G>T (n.*547G>T)
c.591G>T (p.Val197=)
c.255+1812G>T (n.255+1812G>T)
c.337+499G>T (n.337+499G>T)
c.448+499G>T (n.448+499G>T)
c.639G>T (p.Val213=)
15g.74893302A=CA2187897429MPIc.652A= (p.Lys218=)
c.487+500A= (n.487+500A=)
c.502A= (p.Lys168=)
c.*548A= (n.*548A=)
c.592A= (p.Lys198=)
c.255+1813A= (n.255+1813A=)
c.337+500A= (n.337+500A=)
c.448+500A= (n.448+500A=)
c.640A= (p.Lys214=)
15g.74893302A>CCA393174808MPIc.652A>C (p.Lys218Gln)
c.487+500A>C (n.487+500A>C)
c.502A>C (p.Lys168Gln)
c.*548A>C (n.*548A>C)
c.592A>C (p.Lys198Gln)
c.255+1813A>C (n.255+1813A>C)
c.337+500A>C (n.337+500A>C)
c.448+500A>C (n.448+500A>C)
c.640A>C (p.Lys214Gln)
15g.74893302A>GCA393174810MPIc.652A>G (p.Lys218Glu)
c.487+500A>G (n.487+500A>G)
c.502A>G (p.Lys168Glu)
c.*548A>G (n.*548A>G)
c.592A>G (p.Lys198Glu)
c.255+1813A>G (n.255+1813A>G)
c.337+500A>G (n.337+500A>G)
c.448+500A>G (n.448+500A>G)
c.640A>G (p.Lys214Glu)
15g.74893302A>TCA16041749MPIc.652A>T (p.Lys218Ter)
c.487+500A>T (n.487+500A>T)
c.502A>T (p.Lys168Ter)
c.*548A>T (n.*548A>T)
c.592A>T (p.Lys198Ter)
c.255+1813A>T (n.255+1813A>T)
c.337+500A>T (n.337+500A>T)
c.448+500A>T (n.448+500A>T)
c.640A>T (p.Lys214Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched