Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74695789delCA2275147011CD300LF,RAB37c.656del (p.Lys219ArgfsTer?)
c.702del (p.Gly235AlafsTer?)
c.72+24131del (n.72+24131del)
c.552del (p.Gly185AlafsTer?)
c.687del (p.Gly230AlafsTer?)
n.479+24131del
c.*31del (n.*31del)
c.665del (p.Lys222ArgfsTer?)
c.701del (p.Lys234ArgfsTer?)
c.633del (p.Gly212AlafsTer?)
n.828del
c.788del (p.Lys263ArgfsTer?)
c.779del (p.Lys260ArgfsTer?)
c.743del (p.Lys248ArgfsTer?)
c.734del (p.Lys245ArgfsTer?)
c.710del (p.Lys237ArgfsTer?)
c.765del (p.Gly256AlafsTer?)
c.756del (p.Gly253AlafsTer?)
c.720del (p.Gly241AlafsTer?)
c.713del (p.Lys238ArgfsTer?)
c.768del (p.Gly257AlafsTer?)
c.759del (p.Gly254AlafsTer?)
c.711del (p.Gly238AlafsTer?)
c.690del (p.Gly231AlafsTer?)
c.678del (p.Gly227AlafsTer?)
n.751del
 dbSNP
17g.74695789T>ACA400935063CD300LF,RAB37c.653A>T (p.Gln218Leu)
c.699A>T (p.Ala233=)
c.72+24131T>A (n.72+24131T>A)
c.549A>T (p.Ala183=)
c.684A>T (p.Ala228=)
n.479+24131T>A
c.*28A>T (n.*28A>T)
c.662A>T (p.Gln221Leu)
c.698A>T (p.Gln233Leu)
c.630A>T (p.Ala210=)
n.825A>T
c.785A>T (p.Gln262Leu)
c.776A>T (p.Gln259Leu)
c.740A>T (p.Gln247Leu)
c.731A>T (p.Gln244Leu)
c.707A>T (p.Gln236Leu)
c.762A>T (p.Ala254=)
c.753A>T (p.Ala251=)
c.717A>T (p.Ala239=)
c.710A>T (p.Gln237Leu)
c.765A>T (p.Ala255=)
c.756A>T (p.Ala252=)
c.708A>T (p.Ala236=)
c.687A>T (p.Ala229=)
c.675A>T (p.Ala225=)
n.748A>T
 dbSNP
17g.74695789T>CCA8749759CD300LF,RAB37c.653A>G (p.Gln218Arg)
c.699A>G (p.Ala233=)
c.72+24131T>C (n.72+24131T>C)
c.549A>G (p.Ala183=)
c.684A>G (p.Ala228=)
n.479+24131T>C
c.*28A>G (n.*28A>G)
c.662A>G (p.Gln221Arg)
c.698A>G (p.Gln233Arg)
c.630A>G (p.Ala210=)
n.825A>G
c.785A>G (p.Gln262Arg)
c.776A>G (p.Gln259Arg)
c.740A>G (p.Gln247Arg)
c.731A>G (p.Gln244Arg)
c.707A>G (p.Gln236Arg)
c.762A>G (p.Ala254=)
c.753A>G (p.Ala251=)
c.717A>G (p.Ala239=)
c.710A>G (p.Gln237Arg)
c.765A>G (p.Ala255=)
c.756A>G (p.Ala252=)
c.708A>G (p.Ala236=)
c.687A>G (p.Ala229=)
c.675A>G (p.Ala225=)
n.748A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695789T>GCA400935064CD300LF,RAB37c.653A>C (p.Gln218Pro)
c.699A>C (p.Ala233=)
c.72+24131T>G (n.72+24131T>G)
c.549A>C (p.Ala183=)
c.684A>C (p.Ala228=)
n.479+24131T>G
c.*28A>C (n.*28A>C)
c.662A>C (p.Gln221Pro)
c.698A>C (p.Gln233Pro)
c.630A>C (p.Ala210=)
n.825A>C
c.785A>C (p.Gln262Pro)
c.776A>C (p.Gln259Pro)
c.740A>C (p.Gln247Pro)
c.731A>C (p.Gln244Pro)
c.707A>C (p.Gln236Pro)
c.762A>C (p.Ala254=)
c.753A>C (p.Ala251=)
c.717A>C (p.Ala239=)
c.710A>C (p.Gln237Pro)
c.765A>C (p.Ala255=)
c.756A>C (p.Ala252=)
c.708A>C (p.Ala236=)
c.687A>C (p.Ala229=)
c.675A>C (p.Ala225=)
n.748A>C
 dbSNP gnomAD v4
17g.74695789T=CA2275147012CD300LF,RAB37c.653A= (p.Gln218=)
c.699A= (p.Ala233=)
c.72+24131T= (n.72+24131T=)
c.549A= (p.Ala183=)
c.684A= (p.Ala228=)
n.479+24131T=
c.*28A= (n.*28A=)
c.662A= (p.Gln221=)
c.698A= (p.Gln233=)
c.630A= (p.Ala210=)
n.825A=
c.785A= (p.Gln262=)
c.776A= (p.Gln259=)
c.740A= (p.Gln247=)
c.731A= (p.Gln244=)
c.707A= (p.Gln236=)
c.762A= (p.Ala254=)
c.753A= (p.Ala251=)
c.717A= (p.Ala239=)
c.710A= (p.Gln237=)
c.765A= (p.Ala255=)
c.756A= (p.Ala252=)
c.708A= (p.Ala236=)
c.687A= (p.Ala229=)
c.675A= (p.Ala225=)
n.748A=
17g.74695789_74695790insCCA2810416961CD300LF,RAB37c.652_653insG (p.Gln218ArgfsTer13)
c.698_699insG (p.Gly235ArgfsTer?)
c.72+24131_72+24132insC (n.72+24131_72+24132insC)
c.548_549insG (p.Gly185ArgfsTer?)
c.683_684insG (p.Gly230ArgfsTer?)
n.479+24131_479+24132insC
c.*27_*28insG (n.*27_*28insG)
c.661_662insG (p.Gln221ArgfsTer13)
c.697_698insG (p.Gln233ArgfsTer13)
c.629_630insG (p.Gly212ArgfsTer?)
n.824_825insG
c.784_785insG (p.Gln262ArgfsTer13)
c.775_776insG (p.Gln259ArgfsTer13)
c.739_740insG (p.Gln247ArgfsTer13)
c.730_731insG (p.Gln244ArgfsTer13)
c.706_707insG (p.Gln236ArgfsTer13)
c.761_762insG (p.Gly256ArgfsTer?)
c.752_753insG (p.Gly253ArgfsTer?)
c.716_717insG (p.Gly241ArgfsTer?)
c.709_710insG (p.Gln237ArgfsTer13)
c.764_765insG (p.Gly257ArgfsTer?)
c.755_756insG (p.Gly254ArgfsTer?)
c.707_708insG (p.Gly238ArgfsTer?)
c.686_687insG (p.Gly231ArgfsTer?)
c.674_675insG (p.Gly227ArgfsTer?)
n.747_748insG
17g.74695790G>ACA8749760CD300LF,RAB37c.652C>T (p.Gln218Ter)
c.698C>T (p.Ala233Val)
c.72+24132G>A (n.72+24132G>A)
c.548C>T (p.Ala183Val)
c.683C>T (p.Ala228Val)
n.479+24132G>A
c.*27C>T (n.*27C>T)
c.661C>T (p.Gln221Ter)
c.697C>T (p.Gln233Ter)
c.629C>T (p.Ala210Val)
n.824C>T
c.784C>T (p.Gln262Ter)
c.775C>T (p.Gln259Ter)
c.739C>T (p.Gln247Ter)
c.730C>T (p.Gln244Ter)
c.706C>T (p.Gln236Ter)
c.761C>T (p.Ala254Val)
c.752C>T (p.Ala251Val)
c.716C>T (p.Ala239Val)
c.709C>T (p.Gln237Ter)
c.764C>T (p.Ala255Val)
c.755C>T (p.Ala252Val)
c.707C>T (p.Ala236Val)
c.686C>T (p.Ala229Val)
c.674C>T (p.Ala225Val)
n.747C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695790G>CCA400935066CD300LF,RAB37c.652C>G (p.Gln218Glu)
c.698C>G (p.Ala233Gly)
c.72+24132G>C (n.72+24132G>C)
c.548C>G (p.Ala183Gly)
c.683C>G (p.Ala228Gly)
n.479+24132G>C
c.*27C>G (n.*27C>G)
c.661C>G (p.Gln221Glu)
c.697C>G (p.Gln233Glu)
c.629C>G (p.Ala210Gly)
n.824C>G
c.784C>G (p.Gln262Glu)
c.775C>G (p.Gln259Glu)
c.739C>G (p.Gln247Glu)
c.730C>G (p.Gln244Glu)
c.706C>G (p.Gln236Glu)
c.761C>G (p.Ala254Gly)
c.752C>G (p.Ala251Gly)
c.716C>G (p.Ala239Gly)
c.709C>G (p.Gln237Glu)
c.764C>G (p.Ala255Gly)
c.755C>G (p.Ala252Gly)
c.707C>G (p.Ala236Gly)
c.686C>G (p.Ala229Gly)
c.674C>G (p.Ala225Gly)
n.747C>G
17g.74695790G=CA2275147013CD300LF,RAB37c.652C= (p.Gln218=)
c.698C= (p.Ala233=)
c.72+24132G= (n.72+24132G=)
c.548C= (p.Ala183=)
c.683C= (p.Ala228=)
n.479+24132G=
c.*27C= (n.*27C=)
c.661C= (p.Gln221=)
c.697C= (p.Gln233=)
c.629C= (p.Ala210=)
n.824C=
c.784C= (p.Gln262=)
c.775C= (p.Gln259=)
c.739C= (p.Gln247=)
c.730C= (p.Gln244=)
c.706C= (p.Gln236=)
c.761C= (p.Ala254=)
c.752C= (p.Ala251=)
c.716C= (p.Ala239=)
c.709C= (p.Gln237=)
c.764C= (p.Ala255=)
c.755C= (p.Ala252=)
c.707C= (p.Ala236=)
c.686C= (p.Ala229=)
c.674C= (p.Ala225=)
n.747C=
17g.74695790G>TCA400935065CD300LF,RAB37c.652C>A (p.Gln218Lys)
c.698C>A (p.Ala233Glu)
c.72+24132G>T (n.72+24132G>T)
c.548C>A (p.Ala183Glu)
c.683C>A (p.Ala228Glu)
n.479+24132G>T
c.*27C>A (n.*27C>A)
c.661C>A (p.Gln221Lys)
c.697C>A (p.Gln233Lys)
c.629C>A (p.Ala210Glu)
n.824C>A
c.784C>A (p.Gln262Lys)
c.775C>A (p.Gln259Lys)
c.739C>A (p.Gln247Lys)
c.730C>A (p.Gln244Lys)
c.706C>A (p.Gln236Lys)
c.761C>A (p.Ala254Glu)
c.752C>A (p.Ala251Glu)
c.716C>A (p.Ala239Glu)
c.709C>A (p.Gln237Lys)
c.764C>A (p.Ala255Glu)
c.755C>A (p.Ala252Glu)
c.707C>A (p.Ala236Glu)
c.686C>A (p.Ala229Glu)
c.674C>A (p.Ala225Glu)
n.747C>A
17g.74695791C>ACA400935067CD300LF,RAB37c.651G>T (p.Pro217=)
c.697G>T (p.Ala233Ser)
c.72+24133C>A (n.72+24133C>A)
c.547G>T (p.Ala183Ser)
c.682G>T (p.Ala228Ser)
n.479+24133C>A
c.*26G>T (n.*26G>T)
c.660G>T (p.Pro220=)
c.696G>T (p.Pro232=)
c.628G>T (p.Ala210Ser)
n.823G>T
c.783G>T (p.Pro261=)
c.774G>T (p.Pro258=)
c.738G>T (p.Pro246=)
c.729G>T (p.Pro243=)
c.705G>T (p.Pro235=)
c.760G>T (p.Ala254Ser)
c.751G>T (p.Ala251Ser)
c.715G>T (p.Ala239Ser)
c.708G>T (p.Pro236=)
c.763G>T (p.Ala255Ser)
c.754G>T (p.Ala252Ser)
c.706G>T (p.Ala236Ser)
c.685G>T (p.Ala229Ser)
c.673G>T (p.Ala225Ser)
n.746G>T
17g.74695791C=CA2275147014CD300LF,RAB37c.651G= (p.Pro217=)
c.697G= (p.Ala233=)
c.72+24133C= (n.72+24133C=)
c.547G= (p.Ala183=)
c.682G= (p.Ala228=)
n.479+24133C=
c.*26G= (n.*26G=)
c.660G= (p.Pro220=)
c.696G= (p.Pro232=)
c.628G= (p.Ala210=)
n.823G=
c.783G= (p.Pro261=)
c.774G= (p.Pro258=)
c.738G= (p.Pro246=)
c.729G= (p.Pro243=)
c.705G= (p.Pro235=)
c.760G= (p.Ala254=)
c.751G= (p.Ala251=)
c.715G= (p.Ala239=)
c.708G= (p.Pro236=)
c.763G= (p.Ala255=)
c.754G= (p.Ala252=)
c.706G= (p.Ala236=)
c.685G= (p.Ala229=)
c.673G= (p.Ala225=)
n.746G=
17g.74695791C>GCA400935068CD300LF,RAB37c.651G>C (p.Pro217=)
c.697G>C (p.Ala233Pro)
c.72+24133C>G (n.72+24133C>G)
c.547G>C (p.Ala183Pro)
c.682G>C (p.Ala228Pro)
n.479+24133C>G
c.*26G>C (n.*26G>C)
c.660G>C (p.Pro220=)
c.696G>C (p.Pro232=)
c.628G>C (p.Ala210Pro)
n.823G>C
c.783G>C (p.Pro261=)
c.774G>C (p.Pro258=)
c.738G>C (p.Pro246=)
c.729G>C (p.Pro243=)
c.705G>C (p.Pro235=)
c.760G>C (p.Ala254Pro)
c.751G>C (p.Ala251Pro)
c.715G>C (p.Ala239Pro)
c.708G>C (p.Pro236=)
c.763G>C (p.Ala255Pro)
c.754G>C (p.Ala252Pro)
c.706G>C (p.Ala236Pro)
c.685G>C (p.Ala229Pro)
c.673G>C (p.Ala225Pro)
n.746G>C
 gnomAD v4
17g.74695791C>TCA8749761CD300LF,RAB37c.651G>A (p.Pro217=)
c.697G>A (p.Ala233Thr)
c.72+24133C>T (n.72+24133C>T)
c.547G>A (p.Ala183Thr)
c.682G>A (p.Ala228Thr)
n.479+24133C>T
c.*26G>A (n.*26G>A)
c.660G>A (p.Pro220=)
c.696G>A (p.Pro232=)
c.628G>A (p.Ala210Thr)
n.823G>A
c.783G>A (p.Pro261=)
c.774G>A (p.Pro258=)
c.738G>A (p.Pro246=)
c.729G>A (p.Pro243=)
c.705G>A (p.Pro235=)
c.760G>A (p.Ala254Thr)
c.751G>A (p.Ala251Thr)
c.715G>A (p.Ala239Thr)
c.708G>A (p.Pro236=)
c.763G>A (p.Ala255Thr)
c.754G>A (p.Ala252Thr)
c.706G>A (p.Ala236Thr)
c.685G>A (p.Ala229Thr)
c.673G>A (p.Ala225Thr)
n.746G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695792G>ACA8749762CD300LF,RAB37c.650C>T (p.Pro217Leu)
c.696C>T (p.Pro232=)
c.72+24134G>A (n.72+24134G>A)
c.546C>T (p.Pro182=)
c.681C>T (p.Pro227=)
n.479+24134G>A
c.*25C>T (n.*25C>T)
c.659C>T (p.Pro220Leu)
c.695C>T (p.Pro232Leu)
c.627C>T (p.Pro209=)
n.822C>T
c.782C>T (p.Pro261Leu)
c.773C>T (p.Pro258Leu)
c.737C>T (p.Pro246Leu)
c.728C>T (p.Pro243Leu)
c.704C>T (p.Pro235Leu)
c.759C>T (p.Pro253=)
c.750C>T (p.Pro250=)
c.714C>T (p.Pro238=)
c.707C>T (p.Pro236Leu)
c.762C>T (p.Pro254=)
c.753C>T (p.Pro251=)
c.705C>T (p.Pro235=)
c.684C>T (p.Pro228=)
c.672C>T (p.Pro224=)
n.745C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695792G>CCA400935069CD300LF,RAB37c.650C>G (p.Pro217Arg)
c.696C>G (p.Pro232=)
c.72+24134G>C (n.72+24134G>C)
c.546C>G (p.Pro182=)
c.681C>G (p.Pro227=)
n.479+24134G>C
c.*25C>G (n.*25C>G)
c.659C>G (p.Pro220Arg)
c.695C>G (p.Pro232Arg)
c.627C>G (p.Pro209=)
n.822C>G
c.782C>G (p.Pro261Arg)
c.773C>G (p.Pro258Arg)
c.737C>G (p.Pro246Arg)
c.728C>G (p.Pro243Arg)
c.704C>G (p.Pro235Arg)
c.759C>G (p.Pro253=)
c.750C>G (p.Pro250=)
c.714C>G (p.Pro238=)
c.707C>G (p.Pro236Arg)
c.762C>G (p.Pro254=)
c.753C>G (p.Pro251=)
c.705C>G (p.Pro235=)
c.684C>G (p.Pro228=)
c.672C>G (p.Pro224=)
n.745C>G
17g.74695792G=CA2275147015CD300LF,RAB37c.650C= (p.Pro217=)
c.696C= (p.Pro232=)
c.72+24134G= (n.72+24134G=)
c.546C= (p.Pro182=)
c.681C= (p.Pro227=)
n.479+24134G=
c.*25C= (n.*25C=)
c.659C= (p.Pro220=)
c.695C= (p.Pro232=)
c.627C= (p.Pro209=)
n.822C=
c.782C= (p.Pro261=)
c.773C= (p.Pro258=)
c.737C= (p.Pro246=)
c.728C= (p.Pro243=)
c.704C= (p.Pro235=)
c.759C= (p.Pro253=)
c.750C= (p.Pro250=)
c.714C= (p.Pro238=)
c.707C= (p.Pro236=)
c.762C= (p.Pro254=)
c.753C= (p.Pro251=)
c.705C= (p.Pro235=)
c.684C= (p.Pro228=)
c.672C= (p.Pro224=)
n.745C=
17g.74695792G>TCA400935070CD300LF,RAB37c.650C>A (p.Pro217Gln)
c.696C>A (p.Pro232=)
c.72+24134G>T (n.72+24134G>T)
c.546C>A (p.Pro182=)
c.681C>A (p.Pro227=)
n.479+24134G>T
c.*25C>A (n.*25C>A)
c.659C>A (p.Pro220Gln)
c.695C>A (p.Pro232Gln)
c.627C>A (p.Pro209=)
n.822C>A
c.782C>A (p.Pro261Gln)
c.773C>A (p.Pro258Gln)
c.737C>A (p.Pro246Gln)
c.728C>A (p.Pro243Gln)
c.704C>A (p.Pro235Gln)
c.759C>A (p.Pro253=)
c.750C>A (p.Pro250=)
c.714C>A (p.Pro238=)
c.707C>A (p.Pro236Gln)
c.762C>A (p.Pro254=)
c.753C>A (p.Pro251=)
c.705C>A (p.Pro235=)
c.684C>A (p.Pro228=)
c.672C>A (p.Pro224=)
n.745C>A
17g.74695793G>ACA400935071CD300LF,RAB37c.649C>T (p.Pro217Ser)
c.695C>T (p.Pro232Leu)
c.72+24135G>A (n.72+24135G>A)
c.545C>T (p.Pro182Leu)
c.680C>T (p.Pro227Leu)
n.479+24135G>A
c.*24C>T (n.*24C>T)
c.658C>T (p.Pro220Ser)
c.694C>T (p.Pro232Ser)
c.626C>T (p.Pro209Leu)
n.821C>T
c.781C>T (p.Pro261Ser)
c.772C>T (p.Pro258Ser)
c.736C>T (p.Pro246Ser)
c.727C>T (p.Pro243Ser)
c.703C>T (p.Pro235Ser)
c.758C>T (p.Pro253Leu)
c.749C>T (p.Pro250Leu)
c.713C>T (p.Pro238Leu)
c.706C>T (p.Pro236Ser)
c.761C>T (p.Pro254Leu)
c.752C>T (p.Pro251Leu)
c.704C>T (p.Pro235Leu)
c.683C>T (p.Pro228Leu)
c.671C>T (p.Pro224Leu)
n.744C>T
17g.74695793G>CCA400935072CD300LF,RAB37c.649C>G (p.Pro217Ala)
c.695C>G (p.Pro232Arg)
c.72+24135G>C (n.72+24135G>C)
c.545C>G (p.Pro182Arg)
c.680C>G (p.Pro227Arg)
n.479+24135G>C
c.*24C>G (n.*24C>G)
c.658C>G (p.Pro220Ala)
c.694C>G (p.Pro232Ala)
c.626C>G (p.Pro209Arg)
n.821C>G
c.781C>G (p.Pro261Ala)
c.772C>G (p.Pro258Ala)
c.736C>G (p.Pro246Ala)
c.727C>G (p.Pro243Ala)
c.703C>G (p.Pro235Ala)
c.758C>G (p.Pro253Arg)
c.749C>G (p.Pro250Arg)
c.713C>G (p.Pro238Arg)
c.706C>G (p.Pro236Ala)
c.761C>G (p.Pro254Arg)
c.752C>G (p.Pro251Arg)
c.704C>G (p.Pro235Arg)
c.683C>G (p.Pro228Arg)
c.671C>G (p.Pro224Arg)
n.744C>G
17g.74695793G=CA2275147016CD300LF,RAB37c.649C= (p.Pro217=)
c.695C= (p.Pro232=)
c.72+24135G= (n.72+24135G=)
c.545C= (p.Pro182=)
c.680C= (p.Pro227=)
n.479+24135G=
c.*24C= (n.*24C=)
c.658C= (p.Pro220=)
c.694C= (p.Pro232=)
c.626C= (p.Pro209=)
n.821C=
c.781C= (p.Pro261=)
c.772C= (p.Pro258=)
c.736C= (p.Pro246=)
c.727C= (p.Pro243=)
c.703C= (p.Pro235=)
c.758C= (p.Pro253=)
c.749C= (p.Pro250=)
c.713C= (p.Pro238=)
c.706C= (p.Pro236=)
c.761C= (p.Pro254=)
c.752C= (p.Pro251=)
c.704C= (p.Pro235=)
c.683C= (p.Pro228=)
c.671C= (p.Pro224=)
n.744C=
17g.74695793G>TCA8749763CD300LF,RAB37c.649C>A (p.Pro217Thr)
c.695C>A (p.Pro232His)
c.72+24135G>T (n.72+24135G>T)
c.545C>A (p.Pro182His)
c.680C>A (p.Pro227His)
n.479+24135G>T
c.*24C>A (n.*24C>A)
c.658C>A (p.Pro220Thr)
c.694C>A (p.Pro232Thr)
c.626C>A (p.Pro209His)
n.821C>A
c.781C>A (p.Pro261Thr)
c.772C>A (p.Pro258Thr)
c.736C>A (p.Pro246Thr)
c.727C>A (p.Pro243Thr)
c.703C>A (p.Pro235Thr)
c.758C>A (p.Pro253His)
c.749C>A (p.Pro250His)
c.713C>A (p.Pro238His)
c.706C>A (p.Pro236Thr)
c.761C>A (p.Pro254His)
c.752C>A (p.Pro251His)
c.704C>A (p.Pro235His)
c.683C>A (p.Pro228His)
c.671C>A (p.Pro224His)
n.744C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695793_74695794insTACA986273774CD300LF,RAB37c.648_649insTA (p.Pro217TyrfsTer?)
c.694_695insTA (p.Pro232LeufsTer?)
c.72+24135_72+24136insTA (n.72+24135_72+24136insTA)
c.544_545insTA (p.Pro182LeufsTer?)
c.679_680insTA (p.Pro227LeufsTer?)
n.479+24135_479+24136insTA
c.*23_*24insTA (n.*23_*24insTA)
c.657_658insTA (p.Pro220TyrfsTer?)
c.693_694insTA (p.Pro232TyrfsTer?)
c.625_626insTA (p.Pro209LeufsTer?)
n.820_821insTA
c.780_781insTA (p.Pro261TyrfsTer?)
c.771_772insTA (p.Pro258TyrfsTer?)
c.735_736insTA (p.Pro246TyrfsTer?)
c.726_727insTA (p.Pro243TyrfsTer?)
c.702_703insTA (p.Pro235TyrfsTer?)
c.757_758insTA (p.Pro253LeufsTer?)
c.748_749insTA (p.Pro250LeufsTer?)
c.712_713insTA (p.Pro238LeufsTer?)
c.705_706insTA (p.Pro236TyrfsTer?)
c.760_761insTA (p.Pro254LeufsTer?)
c.751_752insTA (p.Pro251LeufsTer?)
c.703_704insTA (p.Pro235LeufsTer?)
c.682_683insTA (p.Pro228LeufsTer?)
c.670_671insTA (p.Pro224LeufsTer?)
n.743_744insTA
 dbSNP gnomAD v3 gnomAD v4
17g.74695794G>ACA400935073CD300LF,RAB37c.648C>T (p.Ser216=)
c.694C>T (p.Pro232Ser)
c.72+24136G>A (n.72+24136G>A)
c.544C>T (p.Pro182Ser)
c.679C>T (p.Pro227Ser)
n.479+24136G>A
c.*23C>T (n.*23C>T)
c.657C>T (p.Ser219=)
c.693C>T (p.Ser231=)
c.625C>T (p.Pro209Ser)
n.820C>T
c.780C>T (p.Ser260=)
c.771C>T (p.Ser257=)
c.735C>T (p.Ser245=)
c.726C>T (p.Ser242=)
c.702C>T (p.Ser234=)
c.757C>T (p.Pro253Ser)
c.748C>T (p.Pro250Ser)
c.712C>T (p.Pro238Ser)
c.705C>T (p.Ser235=)
c.760C>T (p.Pro254Ser)
c.751C>T (p.Pro251Ser)
c.703C>T (p.Pro235Ser)
c.682C>T (p.Pro228Ser)
c.670C>T (p.Pro224Ser)
n.743C>T
 gnomAD v4
17g.74695794G>CCA400935074CD300LF,RAB37c.648C>G (p.Ser216=)
c.694C>G (p.Pro232Ala)
c.72+24136G>C (n.72+24136G>C)
c.544C>G (p.Pro182Ala)
c.679C>G (p.Pro227Ala)
n.479+24136G>C
c.*23C>G (n.*23C>G)
c.657C>G (p.Ser219=)
c.693C>G (p.Ser231=)
c.625C>G (p.Pro209Ala)
n.820C>G
c.780C>G (p.Ser260=)
c.771C>G (p.Ser257=)
c.735C>G (p.Ser245=)
c.726C>G (p.Ser242=)
c.702C>G (p.Ser234=)
c.757C>G (p.Pro253Ala)
c.748C>G (p.Pro250Ala)
c.712C>G (p.Pro238Ala)
c.705C>G (p.Ser235=)
c.760C>G (p.Pro254Ala)
c.751C>G (p.Pro251Ala)
c.703C>G (p.Pro235Ala)
c.682C>G (p.Pro228Ala)
c.670C>G (p.Pro224Ala)
n.743C>G
17g.74695794G>TCA400935075CD300LF,RAB37c.648C>A (p.Ser216=)
c.694C>A (p.Pro232Thr)
c.72+24136G>T (n.72+24136G>T)
c.544C>A (p.Pro182Thr)
c.679C>A (p.Pro227Thr)
n.479+24136G>T
c.*23C>A (n.*23C>A)
c.657C>A (p.Ser219=)
c.693C>A (p.Ser231=)
c.625C>A (p.Pro209Thr)
n.820C>A
c.780C>A (p.Ser260=)
c.771C>A (p.Ser257=)
c.735C>A (p.Ser245=)
c.726C>A (p.Ser242=)
c.702C>A (p.Ser234=)
c.757C>A (p.Pro253Thr)
c.748C>A (p.Pro250Thr)
c.712C>A (p.Pro238Thr)
c.705C>A (p.Ser235=)
c.760C>A (p.Pro254Thr)
c.751C>A (p.Pro251Thr)
c.703C>A (p.Pro235Thr)
c.682C>A (p.Pro228Thr)
c.670C>A (p.Pro224Thr)
n.743C>A
17g.74695795G>ACA400935078CD300LF,RAB37c.647C>T (p.Ser216Phe)
c.693C>T (p.Leu231=)
c.72+24137G>A (n.72+24137G>A)
c.543C>T (p.Leu181=)
c.678C>T (p.Leu226=)
n.479+24137G>A
c.*22C>T (n.*22C>T)
c.656C>T (p.Ser219Phe)
c.692C>T (p.Ser231Phe)
c.624C>T (p.Leu208=)
n.819C>T
c.779C>T (p.Ser260Phe)
c.770C>T (p.Ser257Phe)
c.734C>T (p.Ser245Phe)
c.725C>T (p.Ser242Phe)
c.701C>T (p.Ser234Phe)
c.756C>T (p.Leu252=)
c.747C>T (p.Leu249=)
c.711C>T (p.Leu237=)
c.704C>T (p.Ser235Phe)
c.759C>T (p.Leu253=)
c.750C>T (p.Leu250=)
c.702C>T (p.Leu234=)
c.681C>T (p.Leu227=)
c.669C>T (p.Leu223=)
n.742C>T
 dbSNP
17g.74695795G>CCA400935077CD300LF,RAB37c.647C>G (p.Ser216Cys)
c.693C>G (p.Leu231=)
c.72+24137G>C (n.72+24137G>C)
c.543C>G (p.Leu181=)
c.678C>G (p.Leu226=)
n.479+24137G>C
c.*22C>G (n.*22C>G)
c.656C>G (p.Ser219Cys)
c.692C>G (p.Ser231Cys)
c.624C>G (p.Leu208=)
n.819C>G
c.779C>G (p.Ser260Cys)
c.770C>G (p.Ser257Cys)
c.734C>G (p.Ser245Cys)
c.725C>G (p.Ser242Cys)
c.701C>G (p.Ser234Cys)
c.756C>G (p.Leu252=)
c.747C>G (p.Leu249=)
c.711C>G (p.Leu237=)
c.704C>G (p.Ser235Cys)
c.759C>G (p.Leu253=)
c.750C>G (p.Leu250=)
c.702C>G (p.Leu234=)
c.681C>G (p.Leu227=)
c.669C>G (p.Leu223=)
n.742C>G
 dbSNP gnomAD v3 gnomAD v4
17g.74695795G=CA2275147017CD300LF,RAB37c.647C= (p.Ser216=)
c.693C= (p.Leu231=)
c.72+24137G= (n.72+24137G=)
c.543C= (p.Leu181=)
c.678C= (p.Leu226=)
n.479+24137G=
c.*22C= (n.*22C=)
c.656C= (p.Ser219=)
c.692C= (p.Ser231=)
c.624C= (p.Leu208=)
n.819C=
c.779C= (p.Ser260=)
c.770C= (p.Ser257=)
c.734C= (p.Ser245=)
c.725C= (p.Ser242=)
c.701C= (p.Ser234=)
c.756C= (p.Leu252=)
c.747C= (p.Leu249=)
c.711C= (p.Leu237=)
c.704C= (p.Ser235=)
c.759C= (p.Leu253=)
c.750C= (p.Leu250=)
c.702C= (p.Leu234=)
c.681C= (p.Leu227=)
c.669C= (p.Leu223=)
n.742C=
17g.74695795G>TCA400935076CD300LF,RAB37c.647C>A (p.Ser216Tyr)
c.693C>A (p.Leu231=)
c.72+24137G>T (n.72+24137G>T)
c.543C>A (p.Leu181=)
c.678C>A (p.Leu226=)
n.479+24137G>T
c.*22C>A (n.*22C>A)
c.656C>A (p.Ser219Tyr)
c.692C>A (p.Ser231Tyr)
c.624C>A (p.Leu208=)
n.819C>A
c.779C>A (p.Ser260Tyr)
c.770C>A (p.Ser257Tyr)
c.734C>A (p.Ser245Tyr)
c.725C>A (p.Ser242Tyr)
c.701C>A (p.Ser234Tyr)
c.756C>A (p.Leu252=)
c.747C>A (p.Leu249=)
c.711C>A (p.Leu237=)
c.704C>A (p.Ser235Tyr)
c.759C>A (p.Leu253=)
c.750C>A (p.Leu250=)
c.702C>A (p.Leu234=)
c.681C>A (p.Leu227=)
c.669C>A (p.Leu223=)
n.742C>A
17g.74695796A>CCA400935079CD300LF,RAB37c.646T>G (p.Ser216Ala)
c.692T>G (p.Leu231Arg)
c.72+24138A>C (n.72+24138A>C)
c.542T>G (p.Leu181Arg)
c.677T>G (p.Leu226Arg)
n.479+24138A>C
c.*21T>G (n.*21T>G)
c.655T>G (p.Ser219Ala)
c.691T>G (p.Ser231Ala)
c.623T>G (p.Leu208Arg)
n.818T>G
c.778T>G (p.Ser260Ala)
c.769T>G (p.Ser257Ala)
c.733T>G (p.Ser245Ala)
c.724T>G (p.Ser242Ala)
c.700T>G (p.Ser234Ala)
c.755T>G (p.Leu252Arg)
c.746T>G (p.Leu249Arg)
c.710T>G (p.Leu237Arg)
c.703T>G (p.Ser235Ala)
c.758T>G (p.Leu253Arg)
c.749T>G (p.Leu250Arg)
c.701T>G (p.Leu234Arg)
c.680T>G (p.Leu227Arg)
c.668T>G (p.Leu223Arg)
n.741T>G
17g.74695796A>GCA400935080CD300LF,RAB37c.646T>C (p.Ser216Pro)
c.692T>C (p.Leu231Pro)
c.72+24138A>G (n.72+24138A>G)
c.542T>C (p.Leu181Pro)
c.677T>C (p.Leu226Pro)
n.479+24138A>G
c.*21T>C (n.*21T>C)
c.655T>C (p.Ser219Pro)
c.691T>C (p.Ser231Pro)
c.623T>C (p.Leu208Pro)
n.818T>C
c.778T>C (p.Ser260Pro)
c.769T>C (p.Ser257Pro)
c.733T>C (p.Ser245Pro)
c.724T>C (p.Ser242Pro)
c.700T>C (p.Ser234Pro)
c.755T>C (p.Leu252Pro)
c.746T>C (p.Leu249Pro)
c.710T>C (p.Leu237Pro)
c.703T>C (p.Ser235Pro)
c.758T>C (p.Leu253Pro)
c.749T>C (p.Leu250Pro)
c.701T>C (p.Leu234Pro)
c.680T>C (p.Leu227Pro)
c.668T>C (p.Leu223Pro)
n.741T>C
17g.74695796A>TCA400935081CD300LF,RAB37c.646T>A (p.Ser216Thr)
c.692T>A (p.Leu231His)
c.72+24138A>T (n.72+24138A>T)
c.542T>A (p.Leu181His)
c.677T>A (p.Leu226His)
n.479+24138A>T
c.*21T>A (n.*21T>A)
c.655T>A (p.Ser219Thr)
c.691T>A (p.Ser231Thr)
c.623T>A (p.Leu208His)
n.818T>A
c.778T>A (p.Ser260Thr)
c.769T>A (p.Ser257Thr)
c.733T>A (p.Ser245Thr)
c.724T>A (p.Ser242Thr)
c.700T>A (p.Ser234Thr)
c.755T>A (p.Leu252His)
c.746T>A (p.Leu249His)
c.710T>A (p.Leu237His)
c.703T>A (p.Ser235Thr)
c.758T>A (p.Leu253His)
c.749T>A (p.Leu250His)
c.701T>A (p.Leu234His)
c.680T>A (p.Leu227His)
c.668T>A (p.Leu223His)
n.741T>A
17g.74695796_74695800delinsAGGTTCA2275147018CD300LF,RAB37c.642_646delinsAACCT (p.Gly214=)
c.688_692delinsAACCT (p.Asn230=)
c.72+24138_72+24142delinsAGGTT (n.72+24138_72+24142delinsAGGTT)
c.538_542delinsAACCT (p.Asn180=)
c.673_677delinsAACCT (p.Asn225=)
n.479+24138_479+24142delinsAGGTT
c.*17_*21delinsAACCT (n.*17_*21delinsAACCT)
c.651_655delinsAACCT (p.Gly217=)
c.687_691delinsAACCT (p.Gly229=)
c.619_623delinsAACCT (p.Asn207=)
n.814_818delinsAACCT
c.774_778delinsAACCT (p.Gly258=)
c.765_769delinsAACCT (p.Gly255=)
c.729_733delinsAACCT (p.Gly243=)
c.720_724delinsAACCT (p.Gly240=)
c.696_700delinsAACCT (p.Gly232=)
c.751_755delinsAACCT (p.Asn251=)
c.742_746delinsAACCT (p.Asn248=)
c.706_710delinsAACCT (p.Asn236=)
c.699_703delinsAACCT (p.Gly233=)
c.754_758delinsAACCT (p.Asn252=)
c.745_749delinsAACCT (p.Asn249=)
c.697_701delinsAACCT (p.Asn233=)
c.676_680delinsAACCT (p.Asn226=)
c.664_668delinsAACCT (p.Asn222=)
n.737_741delinsAACCT
17g.74695797G>ACA400935082CD300LF,RAB37c.645C>T (p.Thr215=)
c.691C>T (p.Leu231Phe)
c.72+24139G>A (n.72+24139G>A)
c.541C>T (p.Leu181Phe)
c.676C>T (p.Leu226Phe)
n.479+24139G>A
c.*20C>T (n.*20C>T)
c.654C>T (p.Thr218=)
c.690C>T (p.Thr230=)
c.622C>T (p.Leu208Phe)
n.817C>T
c.777C>T (p.Thr259=)
c.768C>T (p.Thr256=)
c.732C>T (p.Thr244=)
c.723C>T (p.Thr241=)
c.699C>T (p.Thr233=)
c.754C>T (p.Leu252Phe)
c.745C>T (p.Leu249Phe)
c.709C>T (p.Leu237Phe)
c.702C>T (p.Thr234=)
c.757C>T (p.Leu253Phe)
c.748C>T (p.Leu250Phe)
c.700C>T (p.Leu234Phe)
c.679C>T (p.Leu227Phe)
c.667C>T (p.Leu223Phe)
n.740C>T
 gnomAD v4
17g.74695797G>CCA400935083CD300LF,RAB37c.645C>G (p.Thr215=)
c.691C>G (p.Leu231Val)
c.72+24139G>C (n.72+24139G>C)
c.541C>G (p.Leu181Val)
c.676C>G (p.Leu226Val)
n.479+24139G>C
c.*20C>G (n.*20C>G)
c.654C>G (p.Thr218=)
c.690C>G (p.Thr230=)
c.622C>G (p.Leu208Val)
n.817C>G
c.777C>G (p.Thr259=)
c.768C>G (p.Thr256=)
c.732C>G (p.Thr244=)
c.723C>G (p.Thr241=)
c.699C>G (p.Thr233=)
c.754C>G (p.Leu252Val)
c.745C>G (p.Leu249Val)
c.709C>G (p.Leu237Val)
c.702C>G (p.Thr234=)
c.757C>G (p.Leu253Val)
c.748C>G (p.Leu250Val)
c.700C>G (p.Leu234Val)
c.679C>G (p.Leu227Val)
c.667C>G (p.Leu223Val)
n.740C>G
17g.74695797G>TCA400935084CD300LF,RAB37c.645C>A (p.Thr215=)
c.691C>A (p.Leu231Ile)
c.72+24139G>T (n.72+24139G>T)
c.541C>A (p.Leu181Ile)
c.676C>A (p.Leu226Ile)
n.479+24139G>T
c.*20C>A (n.*20C>A)
c.654C>A (p.Thr218=)
c.690C>A (p.Thr230=)
c.622C>A (p.Leu208Ile)
n.817C>A
c.777C>A (p.Thr259=)
c.768C>A (p.Thr256=)
c.732C>A (p.Thr244=)
c.723C>A (p.Thr241=)
c.699C>A (p.Thr233=)
c.754C>A (p.Leu252Ile)
c.745C>A (p.Leu249Ile)
c.709C>A (p.Leu237Ile)
c.702C>A (p.Thr234=)
c.757C>A (p.Leu253Ile)
c.748C>A (p.Leu250Ile)
c.700C>A (p.Leu234Ile)
c.679C>A (p.Leu227Ile)
c.667C>A (p.Leu223Ile)
n.740C>A
17g.74695797_74695800delCA986273780CD300LF,RAB37c.642_645del (p.Thr215ProfsTer?)
c.688_691del (p.Asn230SerfsTer?)
c.72+24139_72+24142del (n.72+24139_72+24142del)
c.538_541del (p.Asn180SerfsTer?)
c.673_676del (p.Asn225SerfsTer?)
n.479+24139_479+24142del
c.*17_*20del (n.*17_*20del)
c.651_654del (p.Thr218ProfsTer?)
c.687_690del (p.Thr230ProfsTer?)
c.619_622del (p.Asn207SerfsTer?)
n.814_817del
c.774_777del (p.Thr259ProfsTer?)
c.765_768del (p.Thr256ProfsTer?)
c.729_732del (p.Thr244ProfsTer?)
c.720_723del (p.Thr241ProfsTer?)
c.696_699del (p.Thr233ProfsTer?)
c.751_754del (p.Asn251SerfsTer?)
c.742_745del (p.Asn248SerfsTer?)
c.706_709del (p.Asn236SerfsTer?)
c.699_702del (p.Thr234ProfsTer?)
c.754_757del (p.Asn252SerfsTer?)
c.745_748del (p.Asn249SerfsTer?)
c.697_700del (p.Asn233SerfsTer?)
c.676_679del (p.Asn226SerfsTer?)
c.664_667del (p.Asn222SerfsTer?)
n.737_740del
 dbSNP gnomAD v3 gnomAD v4
17g.74695798G>ACA400935085CD300LF,RAB37c.644C>T (p.Thr215Ile)
c.690C>T (p.Asn230=)
c.72+24140G>A (n.72+24140G>A)
c.540C>T (p.Asn180=)
c.675C>T (p.Asn225=)
n.479+24140G>A
c.*19C>T (n.*19C>T)
c.653C>T (p.Thr218Ile)
c.689C>T (p.Thr230Ile)
c.621C>T (p.Asn207=)
n.816C>T
c.776C>T (p.Thr259Ile)
c.767C>T (p.Thr256Ile)
c.731C>T (p.Thr244Ile)
c.722C>T (p.Thr241Ile)
c.698C>T (p.Thr233Ile)
c.753C>T (p.Asn251=)
c.744C>T (p.Asn248=)
c.708C>T (p.Asn236=)
c.701C>T (p.Thr234Ile)
c.756C>T (p.Asn252=)
c.747C>T (p.Asn249=)
c.699C>T (p.Asn233=)
c.678C>T (p.Asn226=)
c.666C>T (p.Asn222=)
n.739C>T
17g.74695798G>CCA400935086CD300LF,RAB37c.644C>G (p.Thr215Ser)
c.690C>G (p.Asn230Lys)
c.72+24140G>C (n.72+24140G>C)
c.540C>G (p.Asn180Lys)
c.675C>G (p.Asn225Lys)
n.479+24140G>C
c.*19C>G (n.*19C>G)
c.653C>G (p.Thr218Ser)
c.689C>G (p.Thr230Ser)
c.621C>G (p.Asn207Lys)
n.816C>G
c.776C>G (p.Thr259Ser)
c.767C>G (p.Thr256Ser)
c.731C>G (p.Thr244Ser)
c.722C>G (p.Thr241Ser)
c.698C>G (p.Thr233Ser)
c.753C>G (p.Asn251Lys)
c.744C>G (p.Asn248Lys)
c.708C>G (p.Asn236Lys)
c.701C>G (p.Thr234Ser)
c.756C>G (p.Asn252Lys)
c.747C>G (p.Asn249Lys)
c.699C>G (p.Asn233Lys)
c.678C>G (p.Asn226Lys)
c.666C>G (p.Asn222Lys)
n.739C>G
17g.74695798G=CA2275147019CD300LF,RAB37c.644C= (p.Thr215=)
c.690C= (p.Asn230=)
c.72+24140G= (n.72+24140G=)
c.540C= (p.Asn180=)
c.675C= (p.Asn225=)
n.479+24140G=
c.*19C= (n.*19C=)
c.653C= (p.Thr218=)
c.689C= (p.Thr230=)
c.621C= (p.Asn207=)
n.816C=
c.776C= (p.Thr259=)
c.767C= (p.Thr256=)
c.731C= (p.Thr244=)
c.722C= (p.Thr241=)
c.698C= (p.Thr233=)
c.753C= (p.Asn251=)
c.744C= (p.Asn248=)
c.708C= (p.Asn236=)
c.701C= (p.Thr234=)
c.756C= (p.Asn252=)
c.747C= (p.Asn249=)
c.699C= (p.Asn233=)
c.678C= (p.Asn226=)
c.666C= (p.Asn222=)
n.739C=
17g.74695798G>TCA400935087CD300LF,RAB37c.644C>A (p.Thr215Asn)
c.690C>A (p.Asn230Lys)
c.72+24140G>T (n.72+24140G>T)
c.540C>A (p.Asn180Lys)
c.675C>A (p.Asn225Lys)
n.479+24140G>T
c.*19C>A (n.*19C>A)
c.653C>A (p.Thr218Asn)
c.689C>A (p.Thr230Asn)
c.621C>A (p.Asn207Lys)
n.816C>A
c.776C>A (p.Thr259Asn)
c.767C>A (p.Thr256Asn)
c.731C>A (p.Thr244Asn)
c.722C>A (p.Thr241Asn)
c.698C>A (p.Thr233Asn)
c.753C>A (p.Asn251Lys)
c.744C>A (p.Asn248Lys)
c.708C>A (p.Asn236Lys)
c.701C>A (p.Thr234Asn)
c.756C>A (p.Asn252Lys)
c.747C>A (p.Asn249Lys)
c.699C>A (p.Asn233Lys)
c.678C>A (p.Asn226Lys)
c.666C>A (p.Asn222Lys)
n.739C>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695799T>ACA400935088CD300LF,RAB37c.643A>T (p.Thr215Ser)
c.689A>T (p.Asn230Ile)
c.72+24141T>A (n.72+24141T>A)
c.539A>T (p.Asn180Ile)
c.674A>T (p.Asn225Ile)
n.479+24141T>A
c.*18A>T (n.*18A>T)
c.652A>T (p.Thr218Ser)
c.688A>T (p.Thr230Ser)
c.620A>T (p.Asn207Ile)
n.815A>T
c.775A>T (p.Thr259Ser)
c.766A>T (p.Thr256Ser)
c.730A>T (p.Thr244Ser)
c.721A>T (p.Thr241Ser)
c.697A>T (p.Thr233Ser)
c.752A>T (p.Asn251Ile)
c.743A>T (p.Asn248Ile)
c.707A>T (p.Asn236Ile)
c.700A>T (p.Thr234Ser)
c.755A>T (p.Asn252Ile)
c.746A>T (p.Asn249Ile)
c.698A>T (p.Asn233Ile)
c.677A>T (p.Asn226Ile)
c.665A>T (p.Asn222Ile)
n.738A>T
17g.74695799T>CCA8749764CD300LF,RAB37c.643A>G (p.Thr215Ala)
c.689A>G (p.Asn230Ser)
c.72+24141T>C (n.72+24141T>C)
c.539A>G (p.Asn180Ser)
c.674A>G (p.Asn225Ser)
n.479+24141T>C
c.*18A>G (n.*18A>G)
c.652A>G (p.Thr218Ala)
c.688A>G (p.Thr230Ala)
c.620A>G (p.Asn207Ser)
n.815A>G
c.775A>G (p.Thr259Ala)
c.766A>G (p.Thr256Ala)
c.730A>G (p.Thr244Ala)
c.721A>G (p.Thr241Ala)
c.697A>G (p.Thr233Ala)
c.752A>G (p.Asn251Ser)
c.743A>G (p.Asn248Ser)
c.707A>G (p.Asn236Ser)
c.700A>G (p.Thr234Ala)
c.755A>G (p.Asn252Ser)
c.746A>G (p.Asn249Ser)
c.698A>G (p.Asn233Ser)
c.677A>G (p.Asn226Ser)
c.665A>G (p.Asn222Ser)
n.738A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695799T>GCA400935089CD300LF,RAB37c.643A>C (p.Thr215Pro)
c.689A>C (p.Asn230Thr)
c.72+24141T>G (n.72+24141T>G)
c.539A>C (p.Asn180Thr)
c.674A>C (p.Asn225Thr)
n.479+24141T>G
c.*18A>C (n.*18A>C)
c.652A>C (p.Thr218Pro)
c.688A>C (p.Thr230Pro)
c.620A>C (p.Asn207Thr)
n.815A>C
c.775A>C (p.Thr259Pro)
c.766A>C (p.Thr256Pro)
c.730A>C (p.Thr244Pro)
c.721A>C (p.Thr241Pro)
c.697A>C (p.Thr233Pro)
c.752A>C (p.Asn251Thr)
c.743A>C (p.Asn248Thr)
c.707A>C (p.Asn236Thr)
c.700A>C (p.Thr234Pro)
c.755A>C (p.Asn252Thr)
c.746A>C (p.Asn249Thr)
c.698A>C (p.Asn233Thr)
c.677A>C (p.Asn226Thr)
c.665A>C (p.Asn222Thr)
n.738A>C
17g.74695799T=CA2275147020CD300LF,RAB37c.643A= (p.Thr215=)
c.689A= (p.Asn230=)
c.72+24141T= (n.72+24141T=)
c.539A= (p.Asn180=)
c.674A= (p.Asn225=)
n.479+24141T=
c.*18A= (n.*18A=)
c.652A= (p.Thr218=)
c.688A= (p.Thr230=)
c.620A= (p.Asn207=)
n.815A=
c.775A= (p.Thr259=)
c.766A= (p.Thr256=)
c.730A= (p.Thr244=)
c.721A= (p.Thr241=)
c.697A= (p.Thr233=)
c.752A= (p.Asn251=)
c.743A= (p.Asn248=)
c.707A= (p.Asn236=)
c.700A= (p.Thr234=)
c.755A= (p.Asn252=)
c.746A= (p.Asn249=)
c.698A= (p.Asn233=)
c.677A= (p.Asn226=)
c.665A= (p.Asn222=)
n.738A=
17g.74695800T>ACA400935092CD300LF,RAB37c.642A>T (p.Gly214=)
c.688A>T (p.Asn230Tyr)
c.72+24142T>A (n.72+24142T>A)
c.538A>T (p.Asn180Tyr)
c.673A>T (p.Asn225Tyr)
n.479+24142T>A
c.*17A>T (n.*17A>T)
c.651A>T (p.Gly217=)
c.687A>T (p.Gly229=)
c.619A>T (p.Asn207Tyr)
n.814A>T
c.774A>T (p.Gly258=)
c.765A>T (p.Gly255=)
c.729A>T (p.Gly243=)
c.720A>T (p.Gly240=)
c.696A>T (p.Gly232=)
c.751A>T (p.Asn251Tyr)
c.742A>T (p.Asn248Tyr)
c.706A>T (p.Asn236Tyr)
c.699A>T (p.Gly233=)
c.754A>T (p.Asn252Tyr)
c.745A>T (p.Asn249Tyr)
c.697A>T (p.Asn233Tyr)
c.676A>T (p.Asn226Tyr)
c.664A>T (p.Asn222Tyr)
n.737A>T
17g.74695800T>CCA400935091CD300LF,RAB37c.642A>G (p.Gly214=)
c.688A>G (p.Asn230Asp)
c.72+24142T>C (n.72+24142T>C)
c.538A>G (p.Asn180Asp)
c.673A>G (p.Asn225Asp)
n.479+24142T>C
c.*17A>G (n.*17A>G)
c.651A>G (p.Gly217=)
c.687A>G (p.Gly229=)
c.619A>G (p.Asn207Asp)
n.814A>G
c.774A>G (p.Gly258=)
c.765A>G (p.Gly255=)
c.729A>G (p.Gly243=)
c.720A>G (p.Gly240=)
c.696A>G (p.Gly232=)
c.751A>G (p.Asn251Asp)
c.742A>G (p.Asn248Asp)
c.706A>G (p.Asn236Asp)
c.699A>G (p.Gly233=)
c.754A>G (p.Asn252Asp)
c.745A>G (p.Asn249Asp)
c.697A>G (p.Asn233Asp)
c.676A>G (p.Asn226Asp)
c.664A>G (p.Asn222Asp)
n.737A>G
17g.74695800T>GCA400935090CD300LF,RAB37c.642A>C (p.Gly214=)
c.688A>C (p.Asn230His)
c.72+24142T>G (n.72+24142T>G)
c.538A>C (p.Asn180His)
c.673A>C (p.Asn225His)
n.479+24142T>G
c.*17A>C (n.*17A>C)
c.651A>C (p.Gly217=)
c.687A>C (p.Gly229=)
c.619A>C (p.Asn207His)
n.814A>C
c.774A>C (p.Gly258=)
c.765A>C (p.Gly255=)
c.729A>C (p.Gly243=)
c.720A>C (p.Gly240=)
c.696A>C (p.Gly232=)
c.751A>C (p.Asn251His)
c.742A>C (p.Asn248His)
c.706A>C (p.Asn236His)
c.699A>C (p.Gly233=)
c.754A>C (p.Asn252His)
c.745A>C (p.Asn249His)
c.697A>C (p.Asn233His)
c.676A>C (p.Asn226His)
c.664A>C (p.Asn222His)
n.737A>C
17g.74695801C>ACA400935093CD300LF,RAB37c.641G>T (p.Gly214Val)
c.687G>T (p.Arg229=)
c.72+24143C>A (n.72+24143C>A)
c.537G>T (p.Arg179=)
c.672G>T (p.Arg224=)
n.479+24143C>A
c.*16G>T (n.*16G>T)
c.650G>T (p.Gly217Val)
c.686G>T (p.Gly229Val)
c.618G>T (p.Arg206=)
n.813G>T
c.773G>T (p.Gly258Val)
c.764G>T (p.Gly255Val)
c.728G>T (p.Gly243Val)
c.719G>T (p.Gly240Val)
c.695G>T (p.Gly232Val)
c.750G>T (p.Arg250=)
c.741G>T (p.Arg247=)
c.705G>T (p.Arg235=)
c.698G>T (p.Gly233Val)
c.753G>T (p.Arg251=)
c.744G>T (p.Arg248=)
c.696G>T (p.Arg232=)
c.675G>T (p.Arg225=)
c.663G>T (p.Arg221=)
n.736G>T
17g.74695801C=CA2275147021CD300LF,RAB37c.641G= (p.Gly214=)
c.687G= (p.Arg229=)
c.72+24143C= (n.72+24143C=)
c.537G= (p.Arg179=)
c.672G= (p.Arg224=)
n.479+24143C=
c.*16G= (n.*16G=)
c.650G= (p.Gly217=)
c.686G= (p.Gly229=)
c.618G= (p.Arg206=)
n.813G=
c.773G= (p.Gly258=)
c.764G= (p.Gly255=)
c.728G= (p.Gly243=)
c.719G= (p.Gly240=)
c.695G= (p.Gly232=)
c.750G= (p.Arg250=)
c.741G= (p.Arg247=)
c.705G= (p.Arg235=)
c.698G= (p.Gly233=)
c.753G= (p.Arg251=)
c.744G= (p.Arg248=)
c.696G= (p.Arg232=)
c.675G= (p.Arg225=)
c.663G= (p.Arg221=)
n.736G=
17g.74695801C>GCA400935095CD300LF,RAB37c.641G>C (p.Gly214Ala)
c.687G>C (p.Arg229=)
c.72+24143C>G (n.72+24143C>G)
c.537G>C (p.Arg179=)
c.672G>C (p.Arg224=)
n.479+24143C>G
c.*16G>C (n.*16G>C)
c.650G>C (p.Gly217Ala)
c.686G>C (p.Gly229Ala)
c.618G>C (p.Arg206=)
n.813G>C
c.773G>C (p.Gly258Ala)
c.764G>C (p.Gly255Ala)
c.728G>C (p.Gly243Ala)
c.719G>C (p.Gly240Ala)
c.695G>C (p.Gly232Ala)
c.750G>C (p.Arg250=)
c.741G>C (p.Arg247=)
c.705G>C (p.Arg235=)
c.698G>C (p.Gly233Ala)
c.753G>C (p.Arg251=)
c.744G>C (p.Arg248=)
c.696G>C (p.Arg232=)
c.675G>C (p.Arg225=)
c.663G>C (p.Arg221=)
n.736G>C
 dbSNP
17g.74695801C>TCA400935094CD300LF,RAB37c.641G>A (p.Gly214Glu)
c.687G>A (p.Arg229=)
c.72+24143C>T (n.72+24143C>T)
c.537G>A (p.Arg179=)
c.672G>A (p.Arg224=)
n.479+24143C>T
c.*16G>A (n.*16G>A)
c.650G>A (p.Gly217Glu)
c.686G>A (p.Gly229Glu)
c.618G>A (p.Arg206=)
n.813G>A
c.773G>A (p.Gly258Glu)
c.764G>A (p.Gly255Glu)
c.728G>A (p.Gly243Glu)
c.719G>A (p.Gly240Glu)
c.695G>A (p.Gly232Glu)
c.750G>A (p.Arg250=)
c.741G>A (p.Arg247=)
c.705G>A (p.Arg235=)
c.698G>A (p.Gly233Glu)
c.753G>A (p.Arg251=)
c.744G>A (p.Arg248=)
c.696G>A (p.Arg232=)
c.675G>A (p.Arg225=)
c.663G>A (p.Arg221=)
n.736G>A
17g.74695801_74695802delCA2810416962CD300LF,RAB37c.640_641del (p.Gly214AsnfsTer16)
c.686_687del (p.Arg229GlnfsTer?)
c.72+24143_72+24144del (n.72+24143_72+24144del)
c.536_537del (p.Arg179GlnfsTer?)
c.671_672del (p.Arg224GlnfsTer?)
n.479+24143_479+24144del
c.*15_*16del (n.*15_*16del)
c.649_650del (p.Gly217AsnfsTer16)
c.685_686del (p.Gly229AsnfsTer16)
c.617_618del (p.Arg206GlnfsTer?)
n.812_813del
c.772_773del (p.Gly258AsnfsTer16)
c.763_764del (p.Gly255AsnfsTer16)
c.727_728del (p.Gly243AsnfsTer16)
c.718_719del (p.Gly240AsnfsTer16)
c.694_695del (p.Gly232AsnfsTer16)
c.749_750del (p.Arg250GlnfsTer?)
c.740_741del (p.Arg247GlnfsTer?)
c.704_705del (p.Arg235GlnfsTer?)
c.697_698del (p.Gly233AsnfsTer16)
c.752_753del (p.Arg251GlnfsTer?)
c.743_744del (p.Arg248GlnfsTer?)
c.695_696del (p.Arg232GlnfsTer?)
c.674_675del (p.Arg225GlnfsTer?)
c.662_663del (p.Arg221GlnfsTer?)
n.735_736del
17g.74695802C>ACA400935096CD300LF,RAB37c.640G>T (p.Gly214Ter)
c.686G>T (p.Arg229Leu)
c.72+24144C>A (n.72+24144C>A)
c.536G>T (p.Arg179Leu)
c.671G>T (p.Arg224Leu)
n.479+24144C>A
c.*15G>T (n.*15G>T)
c.649G>T (p.Gly217Ter)
c.685G>T (p.Gly229Ter)
c.617G>T (p.Arg206Leu)
n.812G>T
c.772G>T (p.Gly258Ter)
c.763G>T (p.Gly255Ter)
c.727G>T (p.Gly243Ter)
c.718G>T (p.Gly240Ter)
c.694G>T (p.Gly232Ter)
c.749G>T (p.Arg250Leu)
c.740G>T (p.Arg247Leu)
c.704G>T (p.Arg235Leu)
c.697G>T (p.Gly233Ter)
c.752G>T (p.Arg251Leu)
c.743G>T (p.Arg248Leu)
c.695G>T (p.Arg232Leu)
c.674G>T (p.Arg225Leu)
c.662G>T (p.Arg221Leu)
n.735G>T
17g.74695802C=CA2275147022CD300LF,RAB37c.640G= (p.Gly214=)
c.686G= (p.Arg229=)
c.72+24144C= (n.72+24144C=)
c.536G= (p.Arg179=)
c.671G= (p.Arg224=)
n.479+24144C=
c.*15G= (n.*15G=)
c.649G= (p.Gly217=)
c.685G= (p.Gly229=)
c.617G= (p.Arg206=)
n.812G=
c.772G= (p.Gly258=)
c.763G= (p.Gly255=)
c.727G= (p.Gly243=)
c.718G= (p.Gly240=)
c.694G= (p.Gly232=)
c.749G= (p.Arg250=)
c.740G= (p.Arg247=)
c.704G= (p.Arg235=)
c.697G= (p.Gly233=)
c.752G= (p.Arg251=)
c.743G= (p.Arg248=)
c.695G= (p.Arg232=)
c.674G= (p.Arg225=)
c.662G= (p.Arg221=)
n.735G=
17g.74695802C>GCA400935097CD300LF,RAB37c.640G>C (p.Gly214Arg)
c.686G>C (p.Arg229Pro)
c.72+24144C>G (n.72+24144C>G)
c.536G>C (p.Arg179Pro)
c.671G>C (p.Arg224Pro)
n.479+24144C>G
c.*15G>C (n.*15G>C)
c.649G>C (p.Gly217Arg)
c.685G>C (p.Gly229Arg)
c.617G>C (p.Arg206Pro)
n.812G>C
c.772G>C (p.Gly258Arg)
c.763G>C (p.Gly255Arg)
c.727G>C (p.Gly243Arg)
c.718G>C (p.Gly240Arg)
c.694G>C (p.Gly232Arg)
c.749G>C (p.Arg250Pro)
c.740G>C (p.Arg247Pro)
c.704G>C (p.Arg235Pro)
c.697G>C (p.Gly233Arg)
c.752G>C (p.Arg251Pro)
c.743G>C (p.Arg248Pro)
c.695G>C (p.Arg232Pro)
c.674G>C (p.Arg225Pro)
c.662G>C (p.Arg221Pro)
n.735G>C
17g.74695802C>TCA8749765CD300LF,RAB37c.640G>A (p.Gly214Arg)
c.686G>A (p.Arg229Gln)
c.72+24144C>T (n.72+24144C>T)
c.536G>A (p.Arg179Gln)
c.671G>A (p.Arg224Gln)
n.479+24144C>T
c.*15G>A (n.*15G>A)
c.649G>A (p.Gly217Arg)
c.685G>A (p.Gly229Arg)
c.617G>A (p.Arg206Gln)
n.812G>A
c.772G>A (p.Gly258Arg)
c.763G>A (p.Gly255Arg)
c.727G>A (p.Gly243Arg)
c.718G>A (p.Gly240Arg)
c.694G>A (p.Gly232Arg)
c.749G>A (p.Arg250Gln)
c.740G>A (p.Arg247Gln)
c.704G>A (p.Arg235Gln)
c.697G>A (p.Gly233Arg)
c.752G>A (p.Arg251Gln)
c.743G>A (p.Arg248Gln)
c.695G>A (p.Arg232Gln)
c.674G>A (p.Arg225Gln)
c.662G>A (p.Arg221Gln)
n.735G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695803G>ACA8749766CD300LF,RAB37c.639C>T (p.Ala213=)
c.685C>T (p.Arg229Trp)
c.72+24145G>A (n.72+24145G>A)
c.535C>T (p.Arg179Trp)
c.670C>T (p.Arg224Trp)
n.479+24145G>A
c.*14C>T (n.*14C>T)
c.648C>T (p.Ala216=)
c.684C>T (p.Ala228=)
c.616C>T (p.Arg206Trp)
n.811C>T
c.771C>T (p.Ala257=)
c.762C>T (p.Ala254=)
c.726C>T (p.Ala242=)
c.717C>T (p.Ala239=)
c.693C>T (p.Ala231=)
c.748C>T (p.Arg250Trp)
c.739C>T (p.Arg247Trp)
c.703C>T (p.Arg235Trp)
c.696C>T (p.Ala232=)
c.751C>T (p.Arg251Trp)
c.742C>T (p.Arg248Trp)
c.694C>T (p.Arg232Trp)
c.673C>T (p.Arg225Trp)
c.661C>T (p.Arg221Trp)
n.734C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695803G>CCA8749767CD300LF,RAB37c.639C>G (p.Ala213=)
c.685C>G (p.Arg229Gly)
c.72+24145G>C (n.72+24145G>C)
c.535C>G (p.Arg179Gly)
c.670C>G (p.Arg224Gly)
n.479+24145G>C
c.*14C>G (n.*14C>G)
c.648C>G (p.Ala216=)
c.684C>G (p.Ala228=)
c.616C>G (p.Arg206Gly)
n.811C>G
c.771C>G (p.Ala257=)
c.762C>G (p.Ala254=)
c.726C>G (p.Ala242=)
c.717C>G (p.Ala239=)
c.693C>G (p.Ala231=)
c.748C>G (p.Arg250Gly)
c.739C>G (p.Arg247Gly)
c.703C>G (p.Arg235Gly)
c.696C>G (p.Ala232=)
c.751C>G (p.Arg251Gly)
c.742C>G (p.Arg248Gly)
c.694C>G (p.Arg232Gly)
c.673C>G (p.Arg225Gly)
c.661C>G (p.Arg221Gly)
n.734C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695803G=CA2275147023CD300LF,RAB37c.639C= (p.Ala213=)
c.685C= (p.Arg229=)
c.72+24145G= (n.72+24145G=)
c.535C= (p.Arg179=)
c.670C= (p.Arg224=)
n.479+24145G=
c.*14C= (n.*14C=)
c.648C= (p.Ala216=)
c.684C= (p.Ala228=)
c.616C= (p.Arg206=)
n.811C=
c.771C= (p.Ala257=)
c.762C= (p.Ala254=)
c.726C= (p.Ala242=)
c.717C= (p.Ala239=)
c.693C= (p.Ala231=)
c.748C= (p.Arg250=)
c.739C= (p.Arg247=)
c.703C= (p.Arg235=)
c.696C= (p.Ala232=)
c.751C= (p.Arg251=)
c.742C= (p.Arg248=)
c.694C= (p.Arg232=)
c.673C= (p.Arg225=)
c.661C= (p.Arg221=)
n.734C=
17g.74695803G>TCA501745345CD300LF,RAB37c.639C>A (p.Ala213=)
c.685C>A (p.Arg229=)
c.72+24145G>T (n.72+24145G>T)
c.535C>A (p.Arg179=)
c.670C>A (p.Arg224=)
n.479+24145G>T
c.*14C>A (n.*14C>A)
c.648C>A (p.Ala216=)
c.684C>A (p.Ala228=)
c.616C>A (p.Arg206=)
n.811C>A
c.771C>A (p.Ala257=)
c.762C>A (p.Ala254=)
c.726C>A (p.Ala242=)
c.717C>A (p.Ala239=)
c.693C>A (p.Ala231=)
c.748C>A (p.Arg250=)
c.739C>A (p.Arg247=)
c.703C>A (p.Arg235=)
c.696C>A (p.Ala232=)
c.751C>A (p.Arg251=)
c.742C>A (p.Arg248=)
c.694C>A (p.Arg232=)
c.673C>A (p.Arg225=)
c.661C>A (p.Arg221=)
n.734C>A
 gnomAD v4
17g.74695804G>ACA400935098CD300LF,RAB37c.638C>T (p.Ala213Val)
c.684C>T (p.Gly228=)
c.72+24146G>A (n.72+24146G>A)
c.534C>T (p.Gly178=)
c.669C>T (p.Gly223=)
n.479+24146G>A
c.*13C>T (n.*13C>T)
c.647C>T (p.Ala216Val)
c.683C>T (p.Ala228Val)
c.615C>T (p.Gly205=)
n.810C>T
c.770C>T (p.Ala257Val)
c.761C>T (p.Ala254Val)
c.725C>T (p.Ala242Val)
c.716C>T (p.Ala239Val)
c.692C>T (p.Ala231Val)
c.747C>T (p.Gly249=)
c.738C>T (p.Gly246=)
c.702C>T (p.Gly234=)
c.695C>T (p.Ala232Val)
c.750C>T (p.Gly250=)
c.741C>T (p.Gly247=)
c.693C>T (p.Gly231=)
c.672C>T (p.Gly224=)
c.660C>T (p.Gly220=)
n.733C>T
17g.74695804G>CCA400935099CD300LF,RAB37c.638C>G (p.Ala213Gly)
c.684C>G (p.Gly228=)
c.72+24146G>C (n.72+24146G>C)
c.534C>G (p.Gly178=)
c.669C>G (p.Gly223=)
n.479+24146G>C
c.*13C>G (n.*13C>G)
c.647C>G (p.Ala216Gly)
c.683C>G (p.Ala228Gly)
c.615C>G (p.Gly205=)
n.810C>G
c.770C>G (p.Ala257Gly)
c.761C>G (p.Ala254Gly)
c.725C>G (p.Ala242Gly)
c.716C>G (p.Ala239Gly)
c.692C>G (p.Ala231Gly)
c.747C>G (p.Gly249=)
c.738C>G (p.Gly246=)
c.702C>G (p.Gly234=)
c.695C>G (p.Ala232Gly)
c.750C>G (p.Gly250=)
c.741C>G (p.Gly247=)
c.693C>G (p.Gly231=)
c.672C>G (p.Gly224=)
c.660C>G (p.Gly220=)
n.733C>G
17g.74695804G>TCA400935100CD300LF,RAB37c.638C>A (p.Ala213Asp)
c.684C>A (p.Gly228=)
c.72+24146G>T (n.72+24146G>T)
c.534C>A (p.Gly178=)
c.669C>A (p.Gly223=)
n.479+24146G>T
c.*13C>A (n.*13C>A)
c.647C>A (p.Ala216Asp)
c.683C>A (p.Ala228Asp)
c.615C>A (p.Gly205=)
n.810C>A
c.770C>A (p.Ala257Asp)
c.761C>A (p.Ala254Asp)
c.725C>A (p.Ala242Asp)
c.716C>A (p.Ala239Asp)
c.692C>A (p.Ala231Asp)
c.747C>A (p.Gly249=)
c.738C>A (p.Gly246=)
c.702C>A (p.Gly234=)
c.695C>A (p.Ala232Asp)
c.750C>A (p.Gly250=)
c.741C>A (p.Gly247=)
c.693C>A (p.Gly231=)
c.672C>A (p.Gly224=)
c.660C>A (p.Gly220=)
n.733C>A
17g.74695805C>ACA400935101CD300LF,RAB37c.637G>T (p.Ala213Ser)
c.683G>T (p.Gly228Val)
c.72+24147C>A (n.72+24147C>A)
c.533G>T (p.Gly178Val)
c.668G>T (p.Gly223Val)
n.479+24147C>A
c.*12G>T (n.*12G>T)
c.646G>T (p.Ala216Ser)
c.682G>T (p.Ala228Ser)
c.614G>T (p.Gly205Val)
n.809G>T
c.769G>T (p.Ala257Ser)
c.760G>T (p.Ala254Ser)
c.724G>T (p.Ala242Ser)
c.715G>T (p.Ala239Ser)
c.691G>T (p.Ala231Ser)
c.746G>T (p.Gly249Val)
c.737G>T (p.Gly246Val)
c.701G>T (p.Gly234Val)
c.694G>T (p.Ala232Ser)
c.749G>T (p.Gly250Val)
c.740G>T (p.Gly247Val)
c.692G>T (p.Gly231Val)
c.671G>T (p.Gly224Val)
c.659G>T (p.Gly220Val)
n.732G>T
 gnomAD v4
17g.74695805C>GCA400935102CD300LF,RAB37c.637G>C (p.Ala213Pro)
c.683G>C (p.Gly228Ala)
c.72+24147C>G (n.72+24147C>G)
c.533G>C (p.Gly178Ala)
c.668G>C (p.Gly223Ala)
n.479+24147C>G
c.*12G>C (n.*12G>C)
c.646G>C (p.Ala216Pro)
c.682G>C (p.Ala228Pro)
c.614G>C (p.Gly205Ala)
n.809G>C
c.769G>C (p.Ala257Pro)
c.760G>C (p.Ala254Pro)
c.724G>C (p.Ala242Pro)
c.715G>C (p.Ala239Pro)
c.691G>C (p.Ala231Pro)
c.746G>C (p.Gly249Ala)
c.737G>C (p.Gly246Ala)
c.701G>C (p.Gly234Ala)
c.694G>C (p.Ala232Pro)
c.749G>C (p.Gly250Ala)
c.740G>C (p.Gly247Ala)
c.692G>C (p.Gly231Ala)
c.671G>C (p.Gly224Ala)
c.659G>C (p.Gly220Ala)
n.732G>C
17g.74695805C>TCA400935103CD300LF,RAB37c.637G>A (p.Ala213Thr)
c.683G>A (p.Gly228Asp)
c.72+24147C>T (n.72+24147C>T)
c.533G>A (p.Gly178Asp)
c.668G>A (p.Gly223Asp)
n.479+24147C>T
c.*12G>A (n.*12G>A)
c.646G>A (p.Ala216Thr)
c.682G>A (p.Ala228Thr)
c.614G>A (p.Gly205Asp)
n.809G>A
c.769G>A (p.Ala257Thr)
c.760G>A (p.Ala254Thr)
c.724G>A (p.Ala242Thr)
c.715G>A (p.Ala239Thr)
c.691G>A (p.Ala231Thr)
c.746G>A (p.Gly249Asp)
c.737G>A (p.Gly246Asp)
c.701G>A (p.Gly234Asp)
c.694G>A (p.Ala232Thr)
c.749G>A (p.Gly250Asp)
c.740G>A (p.Gly247Asp)
c.692G>A (p.Gly231Asp)
c.671G>A (p.Gly224Asp)
c.659G>A (p.Gly220Asp)
n.732G>A
 COSMIC COSMIC COSMIC
17g.74695806C>ACA400935104CD300LF,RAB37c.636G>T (p.Leu212=)
c.682G>T (p.Gly228Cys)
c.72+24148C>A (n.72+24148C>A)
c.532G>T (p.Gly178Cys)
c.667G>T (p.Gly223Cys)
n.479+24148C>A
c.*11G>T (n.*11G>T)
c.645G>T (p.Leu215=)
c.681G>T (p.Leu227=)
c.613G>T (p.Gly205Cys)
n.808G>T
c.768G>T (p.Leu256=)
c.759G>T (p.Leu253=)
c.723G>T (p.Leu241=)
c.714G>T (p.Leu238=)
c.690G>T (p.Leu230=)
c.745G>T (p.Gly249Cys)
c.736G>T (p.Gly246Cys)
c.700G>T (p.Gly234Cys)
c.693G>T (p.Leu231=)
c.748G>T (p.Gly250Cys)
c.739G>T (p.Gly247Cys)
c.691G>T (p.Gly231Cys)
c.670G>T (p.Gly224Cys)
c.658G>T (p.Gly220Cys)
n.731G>T
17g.74695806C>GCA400935105CD300LF,RAB37c.636G>C (p.Leu212=)
c.682G>C (p.Gly228Arg)
c.72+24148C>G (n.72+24148C>G)
c.532G>C (p.Gly178Arg)
c.667G>C (p.Gly223Arg)
n.479+24148C>G
c.*11G>C (n.*11G>C)
c.645G>C (p.Leu215=)
c.681G>C (p.Leu227=)
c.613G>C (p.Gly205Arg)
n.808G>C
c.768G>C (p.Leu256=)
c.759G>C (p.Leu253=)
c.723G>C (p.Leu241=)
c.714G>C (p.Leu238=)
c.690G>C (p.Leu230=)
c.745G>C (p.Gly249Arg)
c.736G>C (p.Gly246Arg)
c.700G>C (p.Gly234Arg)
c.693G>C (p.Leu231=)
c.748G>C (p.Gly250Arg)
c.739G>C (p.Gly247Arg)
c.691G>C (p.Gly231Arg)
c.670G>C (p.Gly224Arg)
c.658G>C (p.Gly220Arg)
n.731G>C
17g.74695806C>TCA400935106CD300LF,RAB37c.636G>A (p.Leu212=)
c.682G>A (p.Gly228Ser)
c.72+24148C>T (n.72+24148C>T)
c.532G>A (p.Gly178Ser)
c.667G>A (p.Gly223Ser)
n.479+24148C>T
c.*11G>A (n.*11G>A)
c.645G>A (p.Leu215=)
c.681G>A (p.Leu227=)
c.613G>A (p.Gly205Ser)
n.808G>A
c.768G>A (p.Leu256=)
c.759G>A (p.Leu253=)
c.723G>A (p.Leu241=)
c.714G>A (p.Leu238=)
c.690G>A (p.Leu230=)
c.745G>A (p.Gly249Ser)
c.736G>A (p.Gly246Ser)
c.700G>A (p.Gly234Ser)
c.693G>A (p.Leu231=)
c.748G>A (p.Gly250Ser)
c.739G>A (p.Gly247Ser)
c.691G>A (p.Gly231Ser)
c.670G>A (p.Gly224Ser)
c.658G>A (p.Gly220Ser)
n.731G>A
17g.74695807A>CCA400935107CD300LF,RAB37c.635T>G (p.Leu212Arg)
c.681T>G (p.Ala227=)
c.72+24149A>C (n.72+24149A>C)
c.531T>G (p.Ala177=)
c.666T>G (p.Ala222=)
n.479+24149A>C
c.*10T>G (n.*10T>G)
c.644T>G (p.Leu215Arg)
c.680T>G (p.Leu227Arg)
c.612T>G (p.Ala204=)
n.807T>G
c.767T>G (p.Leu256Arg)
c.758T>G (p.Leu253Arg)
c.722T>G (p.Leu241Arg)
c.713T>G (p.Leu238Arg)
c.689T>G (p.Leu230Arg)
c.744T>G (p.Ala248=)
c.735T>G (p.Ala245=)
c.699T>G (p.Ala233=)
c.692T>G (p.Leu231Arg)
c.747T>G (p.Ala249=)
c.738T>G (p.Ala246=)
c.690T>G (p.Ala230=)
c.669T>G (p.Ala223=)
c.657T>G (p.Ala219=)
n.730T>G
17g.74695807A>GCA400935108CD300LF,RAB37c.635T>C (p.Leu212Pro)
c.681T>C (p.Ala227=)
c.72+24149A>G (n.72+24149A>G)
c.531T>C (p.Ala177=)
c.666T>C (p.Ala222=)
n.479+24149A>G
c.*10T>C (n.*10T>C)
c.644T>C (p.Leu215Pro)
c.680T>C (p.Leu227Pro)
c.612T>C (p.Ala204=)
n.807T>C
c.767T>C (p.Leu256Pro)
c.758T>C (p.Leu253Pro)
c.722T>C (p.Leu241Pro)
c.713T>C (p.Leu238Pro)
c.689T>C (p.Leu230Pro)
c.744T>C (p.Ala248=)
c.735T>C (p.Ala245=)
c.699T>C (p.Ala233=)
c.692T>C (p.Leu231Pro)
c.747T>C (p.Ala249=)
c.738T>C (p.Ala246=)
c.690T>C (p.Ala230=)
c.669T>C (p.Ala223=)
c.657T>C (p.Ala219=)
n.730T>C
17g.74695807A>TCA400935109CD300LF,RAB37c.635T>A (p.Leu212Gln)
c.681T>A (p.Ala227=)
c.72+24149A>T (n.72+24149A>T)
c.531T>A (p.Ala177=)
c.666T>A (p.Ala222=)
n.479+24149A>T
c.*10T>A (n.*10T>A)
c.644T>A (p.Leu215Gln)
c.680T>A (p.Leu227Gln)
c.612T>A (p.Ala204=)
n.807T>A
c.767T>A (p.Leu256Gln)
c.758T>A (p.Leu253Gln)
c.722T>A (p.Leu241Gln)
c.713T>A (p.Leu238Gln)
c.689T>A (p.Leu230Gln)
c.744T>A (p.Ala248=)
c.735T>A (p.Ala245=)
c.699T>A (p.Ala233=)
c.692T>A (p.Leu231Gln)
c.747T>A (p.Ala249=)
c.738T>A (p.Ala246=)
c.690T>A (p.Ala230=)
c.669T>A (p.Ala223=)
c.657T>A (p.Ala219=)
n.730T>A
17g.74695808G>ACA400935110CD300LF,RAB37c.634C>T (p.Leu212=)
c.680C>T (p.Ala227Val)
c.72+24150G>A (n.72+24150G>A)
c.530C>T (p.Ala177Val)
c.665C>T (p.Ala222Val)
n.479+24150G>A
c.*9C>T (n.*9C>T)
c.643C>T (p.Leu215=)
c.679C>T (p.Leu227=)
c.611C>T (p.Ala204Val)
n.806C>T
c.766C>T (p.Leu256=)
c.757C>T (p.Leu253=)
c.721C>T (p.Leu241=)
c.712C>T (p.Leu238=)
c.688C>T (p.Leu230=)
c.743C>T (p.Ala248Val)
c.734C>T (p.Ala245Val)
c.698C>T (p.Ala233Val)
c.691C>T (p.Leu231=)
c.746C>T (p.Ala249Val)
c.737C>T (p.Ala246Val)
c.689C>T (p.Ala230Val)
c.668C>T (p.Ala223Val)
c.656C>T (p.Ala219Val)
n.729C>T
17g.74695808G>CCA400935112CD300LF,RAB37c.634C>G (p.Leu212Val)
c.680C>G (p.Ala227Gly)
c.72+24150G>C (n.72+24150G>C)
c.530C>G (p.Ala177Gly)
c.665C>G (p.Ala222Gly)
n.479+24150G>C
c.*9C>G (n.*9C>G)
c.643C>G (p.Leu215Val)
c.679C>G (p.Leu227Val)
c.611C>G (p.Ala204Gly)
n.806C>G
c.766C>G (p.Leu256Val)
c.757C>G (p.Leu253Val)
c.721C>G (p.Leu241Val)
c.712C>G (p.Leu238Val)
c.688C>G (p.Leu230Val)
c.743C>G (p.Ala248Gly)
c.734C>G (p.Ala245Gly)
c.698C>G (p.Ala233Gly)
c.691C>G (p.Leu231Val)
c.746C>G (p.Ala249Gly)
c.737C>G (p.Ala246Gly)
c.689C>G (p.Ala230Gly)
c.668C>G (p.Ala223Gly)
c.656C>G (p.Ala219Gly)
n.729C>G
17g.74695808G=CA2275147024CD300LF,RAB37c.634C= (p.Leu212=)
c.680C= (p.Ala227=)
c.72+24150G= (n.72+24150G=)
c.530C= (p.Ala177=)
c.665C= (p.Ala222=)
n.479+24150G=
c.*9C= (n.*9C=)
c.643C= (p.Leu215=)
c.679C= (p.Leu227=)
c.611C= (p.Ala204=)
n.806C=
c.766C= (p.Leu256=)
c.757C= (p.Leu253=)
c.721C= (p.Leu241=)
c.712C= (p.Leu238=)
c.688C= (p.Leu230=)
c.743C= (p.Ala248=)
c.734C= (p.Ala245=)
c.698C= (p.Ala233=)
c.691C= (p.Leu231=)
c.746C= (p.Ala249=)
c.737C= (p.Ala246=)
c.689C= (p.Ala230=)
c.668C= (p.Ala223=)
c.656C= (p.Ala219=)
n.729C=
17g.74695808G>TCA400935111CD300LF,RAB37c.634C>A (p.Leu212Met)
c.680C>A (p.Ala227Asp)
c.72+24150G>T (n.72+24150G>T)
c.530C>A (p.Ala177Asp)
c.665C>A (p.Ala222Asp)
n.479+24150G>T
c.*9C>A (n.*9C>A)
c.643C>A (p.Leu215Met)
c.679C>A (p.Leu227Met)
c.611C>A (p.Ala204Asp)
n.806C>A
c.766C>A (p.Leu256Met)
c.757C>A (p.Leu253Met)
c.721C>A (p.Leu241Met)
c.712C>A (p.Leu238Met)
c.688C>A (p.Leu230Met)
c.743C>A (p.Ala248Asp)
c.734C>A (p.Ala245Asp)
c.698C>A (p.Ala233Asp)
c.691C>A (p.Leu231Met)
c.746C>A (p.Ala249Asp)
c.737C>A (p.Ala246Asp)
c.689C>A (p.Ala230Asp)
c.668C>A (p.Ala223Asp)
c.656C>A (p.Ala219Asp)
n.729C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695809C>ACA400935113CD300LF,RAB37c.633G>T (p.Gln211His)
c.679G>T (p.Ala227Ser)
c.72+24151C>A (n.72+24151C>A)
c.529G>T (p.Ala177Ser)
c.664G>T (p.Ala222Ser)
n.479+24151C>A
c.*8G>T (n.*8G>T)
c.642G>T (p.Gln214His)
c.678G>T (p.Gln226His)
c.610G>T (p.Ala204Ser)
n.805G>T
c.765G>T (p.Gln255His)
c.756G>T (p.Gln252His)
c.720G>T (p.Gln240His)
c.711G>T (p.Gln237His)
c.687G>T (p.Gln229His)
c.742G>T (p.Ala248Ser)
c.733G>T (p.Ala245Ser)
c.697G>T (p.Ala233Ser)
c.690G>T (p.Gln230His)
c.745G>T (p.Ala249Ser)
c.736G>T (p.Ala246Ser)
c.688G>T (p.Ala230Ser)
c.667G>T (p.Ala223Ser)
c.655G>T (p.Ala219Ser)
n.728G>T
17g.74695809C=CA2275147025CD300LF,RAB37c.633G= (p.Gln211=)
c.679G= (p.Ala227=)
c.72+24151C= (n.72+24151C=)
c.529G= (p.Ala177=)
c.664G= (p.Ala222=)
n.479+24151C=
c.*8G= (n.*8G=)
c.642G= (p.Gln214=)
c.678G= (p.Gln226=)
c.610G= (p.Ala204=)
n.805G=
c.765G= (p.Gln255=)
c.756G= (p.Gln252=)
c.720G= (p.Gln240=)
c.711G= (p.Gln237=)
c.687G= (p.Gln229=)
c.742G= (p.Ala248=)
c.733G= (p.Ala245=)
c.697G= (p.Ala233=)
c.690G= (p.Gln230=)
c.745G= (p.Ala249=)
c.736G= (p.Ala246=)
c.688G= (p.Ala230=)
c.667G= (p.Ala223=)
c.655G= (p.Ala219=)
n.728G=
17g.74695809C>GCA400935114CD300LF,RAB37c.633G>C (p.Gln211His)
c.679G>C (p.Ala227Pro)
c.72+24151C>G (n.72+24151C>G)
c.529G>C (p.Ala177Pro)
c.664G>C (p.Ala222Pro)
n.479+24151C>G
c.*8G>C (n.*8G>C)
c.642G>C (p.Gln214His)
c.678G>C (p.Gln226His)
c.610G>C (p.Ala204Pro)
n.805G>C
c.765G>C (p.Gln255His)
c.756G>C (p.Gln252His)
c.720G>C (p.Gln240His)
c.711G>C (p.Gln237His)
c.687G>C (p.Gln229His)
c.742G>C (p.Ala248Pro)
c.733G>C (p.Ala245Pro)
c.697G>C (p.Ala233Pro)
c.690G>C (p.Gln230His)
c.745G>C (p.Ala249Pro)
c.736G>C (p.Ala246Pro)
c.688G>C (p.Ala230Pro)
c.667G>C (p.Ala223Pro)
c.655G>C (p.Ala219Pro)
n.728G>C
17g.74695809C>TCA400935115CD300LF,RAB37c.633G>A (p.Gln211=)
c.679G>A (p.Ala227Thr)
c.72+24151C>T (n.72+24151C>T)
c.529G>A (p.Ala177Thr)
c.664G>A (p.Ala222Thr)
n.479+24151C>T
c.*8G>A (n.*8G>A)
c.642G>A (p.Gln214=)
c.678G>A (p.Gln226=)
c.610G>A (p.Ala204Thr)
n.805G>A
c.765G>A (p.Gln255=)
c.756G>A (p.Gln252=)
c.720G>A (p.Gln240=)
c.711G>A (p.Gln237=)
c.687G>A (p.Gln229=)
c.742G>A (p.Ala248Thr)
c.733G>A (p.Ala245Thr)
c.697G>A (p.Ala233Thr)
c.690G>A (p.Gln230=)
c.745G>A (p.Ala249Thr)
c.736G>A (p.Ala246Thr)
c.688G>A (p.Ala230Thr)
c.667G>A (p.Ala223Thr)
c.655G>A (p.Ala219Thr)
n.728G>A
 dbSNP gnomAD v4
17g.74695810T>ACA400935116CD300LF,RAB37c.632A>T (p.Gln211Leu)
c.678A>T (p.Ala226=)
c.72+24152T>A (n.72+24152T>A)
c.528A>T (p.Ala176=)
c.663A>T (p.Ala221=)
n.479+24152T>A
c.*7A>T (n.*7A>T)
c.641A>T (p.Gln214Leu)
c.677A>T (p.Gln226Leu)
c.609A>T (p.Ala203=)
n.804A>T
c.764A>T (p.Gln255Leu)
c.755A>T (p.Gln252Leu)
c.719A>T (p.Gln240Leu)
c.710A>T (p.Gln237Leu)
c.686A>T (p.Gln229Leu)
c.741A>T (p.Ala247=)
c.732A>T (p.Ala244=)
c.696A>T (p.Ala232=)
c.689A>T (p.Gln230Leu)
c.744A>T (p.Ala248=)
c.735A>T (p.Ala245=)
c.687A>T (p.Ala229=)
c.666A>T (p.Ala222=)
c.654A>T (p.Ala218=)
n.727A>T
17g.74695810T>CCA8749768CD300LF,RAB37c.632A>G (p.Gln211Arg)
c.678A>G (p.Ala226=)
c.72+24152T>C (n.72+24152T>C)
c.528A>G (p.Ala176=)
c.663A>G (p.Ala221=)
n.479+24152T>C
c.*7A>G (n.*7A>G)
c.641A>G (p.Gln214Arg)
c.677A>G (p.Gln226Arg)
c.609A>G (p.Ala203=)
n.804A>G
c.764A>G (p.Gln255Arg)
c.755A>G (p.Gln252Arg)
c.719A>G (p.Gln240Arg)
c.710A>G (p.Gln237Arg)
c.686A>G (p.Gln229Arg)
c.741A>G (p.Ala247=)
c.732A>G (p.Ala244=)
c.696A>G (p.Ala232=)
c.689A>G (p.Gln230Arg)
c.744A>G (p.Ala248=)
c.735A>G (p.Ala245=)
c.687A>G (p.Ala229=)
c.666A>G (p.Ala222=)
c.654A>G (p.Ala218=)
n.727A>G
 dbSNP ExAC
17g.74695810T>GCA400935117CD300LF,RAB37c.632A>C (p.Gln211Pro)
c.678A>C (p.Ala226=)
c.72+24152T>G (n.72+24152T>G)
c.528A>C (p.Ala176=)
c.663A>C (p.Ala221=)
n.479+24152T>G
c.*7A>C (n.*7A>C)
c.641A>C (p.Gln214Pro)
c.677A>C (p.Gln226Pro)
c.609A>C (p.Ala203=)
n.804A>C
c.764A>C (p.Gln255Pro)
c.755A>C (p.Gln252Pro)
c.719A>C (p.Gln240Pro)
c.710A>C (p.Gln237Pro)
c.686A>C (p.Gln229Pro)
c.741A>C (p.Ala247=)
c.732A>C (p.Ala244=)
c.696A>C (p.Ala232=)
c.689A>C (p.Gln230Pro)
c.744A>C (p.Ala248=)
c.735A>C (p.Ala245=)
c.687A>C (p.Ala229=)
c.666A>C (p.Ala222=)
c.654A>C (p.Ala218=)
n.727A>C
17g.74695810T=CA2275147026CD300LF,RAB37c.632A= (p.Gln211=)
c.678A= (p.Ala226=)
c.72+24152T= (n.72+24152T=)
c.528A= (p.Ala176=)
c.663A= (p.Ala221=)
n.479+24152T=
c.*7A= (n.*7A=)
c.641A= (p.Gln214=)
c.677A= (p.Gln226=)
c.609A= (p.Ala203=)
n.804A=
c.764A= (p.Gln255=)
c.755A= (p.Gln252=)
c.719A= (p.Gln240=)
c.710A= (p.Gln237=)
c.686A= (p.Gln229=)
c.741A= (p.Ala247=)
c.732A= (p.Ala244=)
c.696A= (p.Ala232=)
c.689A= (p.Gln230=)
c.744A= (p.Ala248=)
c.735A= (p.Ala245=)
c.687A= (p.Ala229=)
c.666A= (p.Ala222=)
c.654A= (p.Ala218=)
n.727A=
17g.74695811G>ACA400935118CD300LF,RAB37c.631C>T (p.Gln211Ter)
c.677C>T (p.Ala226Val)
c.72+24153G>A (n.72+24153G>A)
c.527C>T (p.Ala176Val)
c.662C>T (p.Ala221Val)
n.479+24153G>A
c.*6C>T (n.*6C>T)
c.640C>T (p.Gln214Ter)
c.676C>T (p.Gln226Ter)
c.608C>T (p.Ala203Val)
n.803C>T
c.763C>T (p.Gln255Ter)
c.754C>T (p.Gln252Ter)
c.718C>T (p.Gln240Ter)
c.709C>T (p.Gln237Ter)
c.685C>T (p.Gln229Ter)
c.740C>T (p.Ala247Val)
c.731C>T (p.Ala244Val)
c.695C>T (p.Ala232Val)
c.688C>T (p.Gln230Ter)
c.743C>T (p.Ala248Val)
c.734C>T (p.Ala245Val)
c.686C>T (p.Ala229Val)
c.665C>T (p.Ala222Val)
c.653C>T (p.Ala218Val)
n.726C>T
 gnomAD v4
17g.74695811G>CCA400935119CD300LF,RAB37c.631C>G (p.Gln211Glu)
c.677C>G (p.Ala226Gly)
c.72+24153G>C (n.72+24153G>C)
c.527C>G (p.Ala176Gly)
c.662C>G (p.Ala221Gly)
n.479+24153G>C
c.*6C>G (n.*6C>G)
c.640C>G (p.Gln214Glu)
c.676C>G (p.Gln226Glu)
c.608C>G (p.Ala203Gly)
n.803C>G
c.763C>G (p.Gln255Glu)
c.754C>G (p.Gln252Glu)
c.718C>G (p.Gln240Glu)
c.709C>G (p.Gln237Glu)
c.685C>G (p.Gln229Glu)
c.740C>G (p.Ala247Gly)
c.731C>G (p.Ala244Gly)
c.695C>G (p.Ala232Gly)
c.688C>G (p.Gln230Glu)
c.743C>G (p.Ala248Gly)
c.734C>G (p.Ala245Gly)
c.686C>G (p.Ala229Gly)
c.665C>G (p.Ala222Gly)
c.653C>G (p.Ala218Gly)
n.726C>G
17g.74695811G=CA2275147027CD300LF,RAB37c.631C= (p.Gln211=)
c.677C= (p.Ala226=)
c.72+24153G= (n.72+24153G=)
c.527C= (p.Ala176=)
c.662C= (p.Ala221=)
n.479+24153G=
c.*6C= (n.*6C=)
c.640C= (p.Gln214=)
c.676C= (p.Gln226=)
c.608C= (p.Ala203=)
n.803C=
c.763C= (p.Gln255=)
c.754C= (p.Gln252=)
c.718C= (p.Gln240=)
c.709C= (p.Gln237=)
c.685C= (p.Gln229=)
c.740C= (p.Ala247=)
c.731C= (p.Ala244=)
c.695C= (p.Ala232=)
c.688C= (p.Gln230=)
c.743C= (p.Ala248=)
c.734C= (p.Ala245=)
c.686C= (p.Ala229=)
c.665C= (p.Ala222=)
c.653C= (p.Ala218=)
n.726C=
17g.74695811G>TCA400935120CD300LF,RAB37c.631C>A (p.Gln211Lys)
c.677C>A (p.Ala226Glu)
c.72+24153G>T (n.72+24153G>T)
c.527C>A (p.Ala176Glu)
c.662C>A (p.Ala221Glu)
n.479+24153G>T
c.*6C>A (n.*6C>A)
c.640C>A (p.Gln214Lys)
c.676C>A (p.Gln226Lys)
c.608C>A (p.Ala203Glu)
n.803C>A
c.763C>A (p.Gln255Lys)
c.754C>A (p.Gln252Lys)
c.718C>A (p.Gln240Lys)
c.709C>A (p.Gln237Lys)
c.685C>A (p.Gln229Lys)
c.740C>A (p.Ala247Glu)
c.731C>A (p.Ala244Glu)
c.695C>A (p.Ala232Glu)
c.688C>A (p.Gln230Lys)
c.743C>A (p.Ala248Glu)
c.734C>A (p.Ala245Glu)
c.686C>A (p.Ala229Glu)
c.665C>A (p.Ala222Glu)
c.653C>A (p.Ala218Glu)
n.726C>A
 dbSNP
17g.74695812C>ACA400935122CD300LF,RAB37c.630G>T (p.Leu210=)
c.676G>T (p.Ala226Ser)
c.72+24154C>A (n.72+24154C>A)
c.526G>T (p.Ala176Ser)
c.661G>T (p.Ala221Ser)
n.479+24154C>A
c.*5G>T (n.*5G>T)
c.639G>T (p.Leu213=)
c.675G>T (p.Leu225=)
c.607G>T (p.Ala203Ser)
n.802G>T
c.762G>T (p.Leu254=)
c.753G>T (p.Leu251=)
c.717G>T (p.Leu239=)
c.708G>T (p.Leu236=)
c.684G>T (p.Leu228=)
c.739G>T (p.Ala247Ser)
c.730G>T (p.Ala244Ser)
c.694G>T (p.Ala232Ser)
c.687G>T (p.Leu229=)
c.742G>T (p.Ala248Ser)
c.733G>T (p.Ala245Ser)
c.685G>T (p.Ala229Ser)
c.664G>T (p.Ala222Ser)
c.652G>T (p.Ala218Ser)
n.725G>T
17g.74695812C=CA2275147028CD300LF,RAB37c.630G= (p.Leu210=)
c.676G= (p.Ala226=)
c.72+24154C= (n.72+24154C=)
c.526G= (p.Ala176=)
c.661G= (p.Ala221=)
n.479+24154C=
c.*5G= (n.*5G=)
c.639G= (p.Leu213=)
c.675G= (p.Leu225=)
c.607G= (p.Ala203=)
n.802G=
c.762G= (p.Leu254=)
c.753G= (p.Leu251=)
c.717G= (p.Leu239=)
c.708G= (p.Leu236=)
c.684G= (p.Leu228=)
c.739G= (p.Ala247=)
c.730G= (p.Ala244=)
c.694G= (p.Ala232=)
c.687G= (p.Leu229=)
c.742G= (p.Ala248=)
c.733G= (p.Ala245=)
c.685G= (p.Ala229=)
c.664G= (p.Ala222=)
c.652G= (p.Ala218=)
n.725G=
17g.74695812C>GCA400935123CD300LF,RAB37c.630G>C (p.Leu210=)
c.676G>C (p.Ala226Pro)
c.72+24154C>G (n.72+24154C>G)
c.526G>C (p.Ala176Pro)
c.661G>C (p.Ala221Pro)
n.479+24154C>G
c.*5G>C (n.*5G>C)
c.639G>C (p.Leu213=)
c.675G>C (p.Leu225=)
c.607G>C (p.Ala203Pro)
n.802G>C
c.762G>C (p.Leu254=)
c.753G>C (p.Leu251=)
c.717G>C (p.Leu239=)
c.708G>C (p.Leu236=)
c.684G>C (p.Leu228=)
c.739G>C (p.Ala247Pro)
c.730G>C (p.Ala244Pro)
c.694G>C (p.Ala232Pro)
c.687G>C (p.Leu229=)
c.742G>C (p.Ala248Pro)
c.733G>C (p.Ala245Pro)
c.685G>C (p.Ala229Pro)
c.664G>C (p.Ala222Pro)
c.652G>C (p.Ala218Pro)
n.725G>C
17g.74695812C>TCA400935121CD300LF,RAB37c.630G>A (p.Leu210=)
c.676G>A (p.Ala226Thr)
c.72+24154C>T (n.72+24154C>T)
c.526G>A (p.Ala176Thr)
c.661G>A (p.Ala221Thr)
n.479+24154C>T
c.*5G>A (n.*5G>A)
c.639G>A (p.Leu213=)
c.675G>A (p.Leu225=)
c.607G>A (p.Ala203Thr)
n.802G>A
c.762G>A (p.Leu254=)
c.753G>A (p.Leu251=)
c.717G>A (p.Leu239=)
c.708G>A (p.Leu236=)
c.684G>A (p.Leu228=)
c.739G>A (p.Ala247Thr)
c.730G>A (p.Ala244Thr)
c.694G>A (p.Ala232Thr)
c.687G>A (p.Leu229=)
c.742G>A (p.Ala248Thr)
c.733G>A (p.Ala245Thr)
c.685G>A (p.Ala229Thr)
c.664G>A (p.Ala222Thr)
c.652G>A (p.Ala218Thr)
n.725G>A
 dbSNP gnomAD v2
17g.74695813A=CA2275147029CD300LF,RAB37c.629T= (p.Leu210=)
c.675T= (p.Pro225=)
c.72+24155A= (n.72+24155A=)
c.525T= (p.Pro175=)
c.660T= (p.Pro220=)
n.479+24155A=
c.*4T= (n.*4T=)
c.638T= (p.Leu213=)
c.674T= (p.Leu225=)
c.606T= (p.Pro202=)
n.801T=
c.761T= (p.Leu254=)
c.752T= (p.Leu251=)
c.716T= (p.Leu239=)
c.707T= (p.Leu236=)
c.683T= (p.Leu228=)
c.738T= (p.Pro246=)
c.729T= (p.Pro243=)
c.693T= (p.Pro231=)
c.686T= (p.Leu229=)
c.741T= (p.Pro247=)
c.732T= (p.Pro244=)
c.684T= (p.Pro228=)
c.663T= (p.Pro221=)
c.651T= (p.Pro217=)
n.724T=
17g.74695813A>CCA8749769CD300LF,RAB37c.629T>G (p.Leu210Arg)
c.675T>G (p.Pro225=)
c.72+24155A>C (n.72+24155A>C)
c.525T>G (p.Pro175=)
c.660T>G (p.Pro220=)
n.479+24155A>C
c.*4T>G (n.*4T>G)
c.638T>G (p.Leu213Arg)
c.674T>G (p.Leu225Arg)
c.606T>G (p.Pro202=)
n.801T>G
c.761T>G (p.Leu254Arg)
c.752T>G (p.Leu251Arg)
c.716T>G (p.Leu239Arg)
c.707T>G (p.Leu236Arg)
c.683T>G (p.Leu228Arg)
c.738T>G (p.Pro246=)
c.729T>G (p.Pro243=)
c.693T>G (p.Pro231=)
c.686T>G (p.Leu229Arg)
c.741T>G (p.Pro247=)
c.732T>G (p.Pro244=)
c.684T>G (p.Pro228=)
c.663T>G (p.Pro221=)
c.651T>G (p.Pro217=)
n.724T>G
 dbSNP ExAC gnomAD v2
17g.74695813A>GCA400935124CD300LF,RAB37c.629T>C (p.Leu210Pro)
c.675T>C (p.Pro225=)
c.72+24155A>G (n.72+24155A>G)
c.525T>C (p.Pro175=)
c.660T>C (p.Pro220=)
n.479+24155A>G
c.*4T>C (n.*4T>C)
c.638T>C (p.Leu213Pro)
c.674T>C (p.Leu225Pro)
c.606T>C (p.Pro202=)
n.801T>C
c.761T>C (p.Leu254Pro)
c.752T>C (p.Leu251Pro)
c.716T>C (p.Leu239Pro)
c.707T>C (p.Leu236Pro)
c.683T>C (p.Leu228Pro)
c.738T>C (p.Pro246=)
c.729T>C (p.Pro243=)
c.693T>C (p.Pro231=)
c.686T>C (p.Leu229Pro)
c.741T>C (p.Pro247=)
c.732T>C (p.Pro244=)
c.684T>C (p.Pro228=)
c.663T>C (p.Pro221=)
c.651T>C (p.Pro217=)
n.724T>C
17g.74695813A>TCA400935125CD300LF,RAB37c.629T>A (p.Leu210Gln)
c.675T>A (p.Pro225=)
c.72+24155A>T (n.72+24155A>T)
c.525T>A (p.Pro175=)
c.660T>A (p.Pro220=)
n.479+24155A>T
c.*4T>A (n.*4T>A)
c.638T>A (p.Leu213Gln)
c.674T>A (p.Leu225Gln)
c.606T>A (p.Pro202=)
n.801T>A
c.761T>A (p.Leu254Gln)
c.752T>A (p.Leu251Gln)
c.716T>A (p.Leu239Gln)
c.707T>A (p.Leu236Gln)
c.683T>A (p.Leu228Gln)
c.738T>A (p.Pro246=)
c.729T>A (p.Pro243=)
c.693T>A (p.Pro231=)
c.686T>A (p.Leu229Gln)
c.741T>A (p.Pro247=)
c.732T>A (p.Pro244=)
c.684T>A (p.Pro228=)
c.663T>A (p.Pro221=)
c.651T>A (p.Pro217=)
n.724T>A
 dbSNP gnomAD v2 gnomAD v4
17g.74695814G>ACA400935126CD300LF,RAB37c.628C>T (p.Leu210=)
c.674C>T (p.Pro225Leu)
c.72+24156G>A (n.72+24156G>A)
c.524C>T (p.Pro175Leu)
c.659C>T (p.Pro220Leu)
n.479+24156G>A
c.*3C>T (n.*3C>T)
c.637C>T (p.Leu213=)
c.673C>T (p.Leu225=)
c.605C>T (p.Pro202Leu)
n.800C>T
c.760C>T (p.Leu254=)
c.751C>T (p.Leu251=)
c.715C>T (p.Leu239=)
c.706C>T (p.Leu236=)
c.682C>T (p.Leu228=)
c.737C>T (p.Pro246Leu)
c.728C>T (p.Pro243Leu)
c.692C>T (p.Pro231Leu)
c.685C>T (p.Leu229=)
c.740C>T (p.Pro247Leu)
c.731C>T (p.Pro244Leu)
c.683C>T (p.Pro228Leu)
c.662C>T (p.Pro221Leu)
c.650C>T (p.Pro217Leu)
n.723C>T
 dbSNP
17g.74695814G>CCA400935127CD300LF,RAB37c.628C>G (p.Leu210Val)
c.674C>G (p.Pro225Arg)
c.72+24156G>C (n.72+24156G>C)
c.524C>G (p.Pro175Arg)
c.659C>G (p.Pro220Arg)
n.479+24156G>C
c.*3C>G (n.*3C>G)
c.637C>G (p.Leu213Val)
c.673C>G (p.Leu225Val)
c.605C>G (p.Pro202Arg)
n.800C>G
c.760C>G (p.Leu254Val)
c.751C>G (p.Leu251Val)
c.715C>G (p.Leu239Val)
c.706C>G (p.Leu236Val)
c.682C>G (p.Leu228Val)
c.737C>G (p.Pro246Arg)
c.728C>G (p.Pro243Arg)
c.692C>G (p.Pro231Arg)
c.685C>G (p.Leu229Val)
c.740C>G (p.Pro247Arg)
c.731C>G (p.Pro244Arg)
c.683C>G (p.Pro228Arg)
c.662C>G (p.Pro221Arg)
c.650C>G (p.Pro217Arg)
n.723C>G
17g.74695814G=CA2275147030CD300LF,RAB37c.628C= (p.Leu210=)
c.674C= (p.Pro225=)
c.72+24156G= (n.72+24156G=)
c.524C= (p.Pro175=)
c.659C= (p.Pro220=)
n.479+24156G=
c.*3C= (n.*3C=)
c.637C= (p.Leu213=)
c.673C= (p.Leu225=)
c.605C= (p.Pro202=)
n.800C=
c.760C= (p.Leu254=)
c.751C= (p.Leu251=)
c.715C= (p.Leu239=)
c.706C= (p.Leu236=)
c.682C= (p.Leu228=)
c.737C= (p.Pro246=)
c.728C= (p.Pro243=)
c.692C= (p.Pro231=)
c.685C= (p.Leu229=)
c.740C= (p.Pro247=)
c.731C= (p.Pro244=)
c.683C= (p.Pro228=)
c.662C= (p.Pro221=)
c.650C= (p.Pro217=)
n.723C=
17g.74695814G>TCA400935128CD300LF,RAB37c.628C>A (p.Leu210Met)
c.674C>A (p.Pro225His)
c.72+24156G>T (n.72+24156G>T)
c.524C>A (p.Pro175His)
c.659C>A (p.Pro220His)
n.479+24156G>T
c.*3C>A (n.*3C>A)
c.637C>A (p.Leu213Met)
c.673C>A (p.Leu225Met)
c.605C>A (p.Pro202His)
n.800C>A
c.760C>A (p.Leu254Met)
c.751C>A (p.Leu251Met)
c.715C>A (p.Leu239Met)
c.706C>A (p.Leu236Met)
c.682C>A (p.Leu228Met)
c.737C>A (p.Pro246His)
c.728C>A (p.Pro243His)
c.692C>A (p.Pro231His)
c.685C>A (p.Leu229Met)
c.740C>A (p.Pro247His)
c.731C>A (p.Pro244His)
c.683C>A (p.Pro228His)
c.662C>A (p.Pro221His)
c.650C>A (p.Pro217His)
n.723C>A
17g.74695815G>ACA400935129CD300LF,RAB37c.627C>T (p.Thr209=)
c.673C>T (p.Pro225Ser)
c.72+24157G>A (n.72+24157G>A)
c.523C>T (p.Pro175Ser)
c.658C>T (p.Pro220Ser)
n.479+24157G>A
c.*2C>T (n.*2C>T)
c.636C>T (p.Thr212=)
c.672C>T (p.Thr224=)
c.604C>T (p.Pro202Ser)
n.799C>T
c.759C>T (p.Thr253=)
c.750C>T (p.Thr250=)
c.714C>T (p.Thr238=)
c.705C>T (p.Thr235=)
c.681C>T (p.Thr227=)
c.736C>T (p.Pro246Ser)
c.727C>T (p.Pro243Ser)
c.691C>T (p.Pro231Ser)
c.684C>T (p.Thr228=)
c.739C>T (p.Pro247Ser)
c.730C>T (p.Pro244Ser)
c.682C>T (p.Pro228Ser)
c.661C>T (p.Pro221Ser)
c.649C>T (p.Pro217Ser)
n.722C>T
17g.74695815G>CCA400935130CD300LF,RAB37c.627C>G (p.Thr209=)
c.673C>G (p.Pro225Ala)
c.72+24157G>C (n.72+24157G>C)
c.523C>G (p.Pro175Ala)
c.658C>G (p.Pro220Ala)
n.479+24157G>C
c.*2C>G (n.*2C>G)
c.636C>G (p.Thr212=)
c.672C>G (p.Thr224=)
c.604C>G (p.Pro202Ala)
n.799C>G
c.759C>G (p.Thr253=)
c.750C>G (p.Thr250=)
c.714C>G (p.Thr238=)
c.705C>G (p.Thr235=)
c.681C>G (p.Thr227=)
c.736C>G (p.Pro246Ala)
c.727C>G (p.Pro243Ala)
c.691C>G (p.Pro231Ala)
c.684C>G (p.Thr228=)
c.739C>G (p.Pro247Ala)
c.730C>G (p.Pro244Ala)
c.682C>G (p.Pro228Ala)
c.661C>G (p.Pro221Ala)
c.649C>G (p.Pro217Ala)
n.722C>G
 gnomAD v4
17g.74695815G>TCA400935131CD300LF,RAB37c.627C>A (p.Thr209=)
c.673C>A (p.Pro225Thr)
c.72+24157G>T (n.72+24157G>T)
c.523C>A (p.Pro175Thr)
c.658C>A (p.Pro220Thr)
n.479+24157G>T
c.*2C>A (n.*2C>A)
c.636C>A (p.Thr212=)
c.672C>A (p.Thr224=)
c.604C>A (p.Pro202Thr)
n.799C>A
c.759C>A (p.Thr253=)
c.750C>A (p.Thr250=)
c.714C>A (p.Thr238=)
c.705C>A (p.Thr235=)
c.681C>A (p.Thr227=)
c.736C>A (p.Pro246Thr)
c.727C>A (p.Pro243Thr)
c.691C>A (p.Pro231Thr)
c.684C>A (p.Thr228=)
c.739C>A (p.Pro247Thr)
c.730C>A (p.Pro244Thr)
c.682C>A (p.Pro228Thr)
c.661C>A (p.Pro221Thr)
c.649C>A (p.Pro217Thr)
n.722C>A
 gnomAD v4
17g.74695816G>ACA400935132CD300LF,RAB37c.626C>T (p.Thr209Ile)
c.672C>T (p.Asp224=)
c.72+24158G>A (n.72+24158G>A)
c.522C>T (p.Asp174=)
c.657C>T (p.Asp219=)
n.479+24158G>A
c.*1C>T (n.*1C>T)
c.635C>T (p.Thr212Ile)
c.671C>T (p.Thr224Ile)
c.603C>T (p.Asp201=)
n.798C>T
c.758C>T (p.Thr253Ile)
c.749C>T (p.Thr250Ile)
c.713C>T (p.Thr238Ile)
c.704C>T (p.Thr235Ile)
c.680C>T (p.Thr227Ile)
c.735C>T (p.Asp245=)
c.726C>T (p.Asp242=)
c.690C>T (p.Asp230=)
c.683C>T (p.Thr228Ile)
c.738C>T (p.Asp246=)
c.729C>T (p.Asp243=)
c.681C>T (p.Asp227=)
c.660C>T (p.Asp220=)
c.648C>T (p.Asp216=)
n.721C>T
17g.74695816G>CCA400935133CD300LF,RAB37c.626C>G (p.Thr209Ser)
c.672C>G (p.Asp224Glu)
c.72+24158G>C (n.72+24158G>C)
c.522C>G (p.Asp174Glu)
c.657C>G (p.Asp219Glu)
n.479+24158G>C
c.*1C>G (n.*1C>G)
c.635C>G (p.Thr212Ser)
c.671C>G (p.Thr224Ser)
c.603C>G (p.Asp201Glu)
n.798C>G
c.758C>G (p.Thr253Ser)
c.749C>G (p.Thr250Ser)
c.713C>G (p.Thr238Ser)
c.704C>G (p.Thr235Ser)
c.680C>G (p.Thr227Ser)
c.735C>G (p.Asp245Glu)
c.726C>G (p.Asp242Glu)
c.690C>G (p.Asp230Glu)
c.683C>G (p.Thr228Ser)
c.738C>G (p.Asp246Glu)
c.729C>G (p.Asp243Glu)
c.681C>G (p.Asp227Glu)
c.660C>G (p.Asp220Glu)
c.648C>G (p.Asp216Glu)
n.721C>G
 COSMIC COSMIC COSMIC
17g.74695816G>TCA400935134CD300LF,RAB37c.626C>A (p.Thr209Asn)
c.672C>A (p.Asp224Glu)
c.72+24158G>T (n.72+24158G>T)
c.522C>A (p.Asp174Glu)
c.657C>A (p.Asp219Glu)
n.479+24158G>T
c.*1C>A (n.*1C>A)
c.635C>A (p.Thr212Asn)
c.671C>A (p.Thr224Asn)
c.603C>A (p.Asp201Glu)
n.798C>A
c.758C>A (p.Thr253Asn)
c.749C>A (p.Thr250Asn)
c.713C>A (p.Thr238Asn)
c.704C>A (p.Thr235Asn)
c.680C>A (p.Thr227Asn)
c.735C>A (p.Asp245Glu)
c.726C>A (p.Asp242Glu)
c.690C>A (p.Asp230Glu)
c.683C>A (p.Thr228Asn)
c.738C>A (p.Asp246Glu)
c.729C>A (p.Asp243Glu)
c.681C>A (p.Asp227Glu)
c.660C>A (p.Asp220Glu)
c.648C>A (p.Asp216Glu)
n.721C>A
 gnomAD v4
17g.74695817T>ACA400935137CD300LF,RAB37c.625A>T (p.Thr209Ser)
c.671A>T (p.Asp224Val)
c.72+24159T>A (n.72+24159T>A)
c.521A>T (p.Asp174Val)
c.656A>T (p.Asp219Val)
n.479+24159T>A
c.498A>T (p.Ter166Cys)
c.634A>T (p.Thr212Ser)
c.670A>T (p.Thr224Ser)
c.602A>T (p.Asp201Val)
n.797A>T
c.757A>T (p.Thr253Ser)
c.748A>T (p.Thr250Ser)
c.712A>T (p.Thr238Ser)
c.703A>T (p.Thr235Ser)
c.679A>T (p.Thr227Ser)
c.734A>T (p.Asp245Val)
c.725A>T (p.Asp242Val)
c.689A>T (p.Asp230Val)
c.682A>T (p.Thr228Ser)
c.737A>T (p.Asp246Val)
c.728A>T (p.Asp243Val)
c.680A>T (p.Asp227Val)
c.659A>T (p.Asp220Val)
c.647A>T (p.Asp216Val)
n.720A>T
17g.74695817T>CCA400935135CD300LF,RAB37c.625A>G (p.Thr209Ala)
c.671A>G (p.Asp224Gly)
c.72+24159T>C (n.72+24159T>C)
c.521A>G (p.Asp174Gly)
c.656A>G (p.Asp219Gly)
n.479+24159T>C
c.498A>G (p.Ter166Trp)
c.634A>G (p.Thr212Ala)
c.670A>G (p.Thr224Ala)
c.602A>G (p.Asp201Gly)
n.797A>G
c.757A>G (p.Thr253Ala)
c.748A>G (p.Thr250Ala)
c.712A>G (p.Thr238Ala)
c.703A>G (p.Thr235Ala)
c.679A>G (p.Thr227Ala)
c.734A>G (p.Asp245Gly)
c.725A>G (p.Asp242Gly)
c.689A>G (p.Asp230Gly)
c.682A>G (p.Thr228Ala)
c.737A>G (p.Asp246Gly)
c.728A>G (p.Asp243Gly)
c.680A>G (p.Asp227Gly)
c.659A>G (p.Asp220Gly)
c.647A>G (p.Asp216Gly)
n.720A>G
17g.74695817T>GCA400935136CD300LF,RAB37c.625A>C (p.Thr209Pro)
c.671A>C (p.Asp224Ala)
c.72+24159T>G (n.72+24159T>G)
c.521A>C (p.Asp174Ala)
c.656A>C (p.Asp219Ala)
n.479+24159T>G
c.498A>C (p.Ter166Cys)
c.634A>C (p.Thr212Pro)
c.670A>C (p.Thr224Pro)
c.602A>C (p.Asp201Ala)
n.797A>C
c.757A>C (p.Thr253Pro)
c.748A>C (p.Thr250Pro)
c.712A>C (p.Thr238Pro)
c.703A>C (p.Thr235Pro)
c.679A>C (p.Thr227Pro)
c.734A>C (p.Asp245Ala)
c.725A>C (p.Asp242Ala)
c.689A>C (p.Asp230Ala)
c.682A>C (p.Thr228Pro)
c.737A>C (p.Asp246Ala)
c.728A>C (p.Asp243Ala)
c.680A>C (p.Asp227Ala)
c.659A>C (p.Asp220Ala)
c.647A>C (p.Asp216Ala)
n.720A>C
 dbSNP
17g.74695817T=CA2275147031CD300LF,RAB37c.625A= (p.Thr209=)
c.671A= (p.Asp224=)
c.72+24159T= (n.72+24159T=)
c.521A= (p.Asp174=)
c.656A= (p.Asp219=)
n.479+24159T=
c.498A= (p.Ter166=)
c.634A= (p.Thr212=)
c.670A= (p.Thr224=)
c.602A= (p.Asp201=)
n.797A=
c.757A= (p.Thr253=)
c.748A= (p.Thr250=)
c.712A= (p.Thr238=)
c.703A= (p.Thr235=)
c.679A= (p.Thr227=)
c.734A= (p.Asp245=)
c.725A= (p.Asp242=)
c.689A= (p.Asp230=)
c.682A= (p.Thr228=)
c.737A= (p.Asp246=)
c.728A= (p.Asp243=)
c.680A= (p.Asp227=)
c.659A= (p.Asp220=)
c.647A= (p.Asp216=)
n.720A=
17g.74695818C>ACA400935138CD300LF,RAB37c.624G>T (p.Leu208=)
c.670G>T (p.Asp224Tyr)
c.72+24160C>A (n.72+24160C>A)
c.520G>T (p.Asp174Tyr)
c.655G>T (p.Asp219Tyr)
n.479+24160C>A
c.497G>T (p.Ter166Leu)
c.633G>T (p.Leu211=)
c.669G>T (p.Leu223=)
c.601G>T (p.Asp201Tyr)
n.796G>T
c.756G>T (p.Leu252=)
c.747G>T (p.Leu249=)
c.711G>T (p.Leu237=)
c.702G>T (p.Leu234=)
c.678G>T (p.Leu226=)
c.733G>T (p.Asp245Tyr)
c.724G>T (p.Asp242Tyr)
c.688G>T (p.Asp230Tyr)
c.681G>T (p.Leu227=)
c.736G>T (p.Asp246Tyr)
c.727G>T (p.Asp243Tyr)
c.679G>T (p.Asp227Tyr)
c.658G>T (p.Asp220Tyr)
c.646G>T (p.Asp216Tyr)
n.719G>T
 dbSNP gnomAD v4
17g.74695818C=CA2275147032CD300LF,RAB37c.624G= (p.Leu208=)
c.670G= (p.Asp224=)
c.72+24160C= (n.72+24160C=)
c.520G= (p.Asp174=)
c.655G= (p.Asp219=)
n.479+24160C=
c.497G= (p.Ter166=)
c.633G= (p.Leu211=)
c.669G= (p.Leu223=)
c.601G= (p.Asp201=)
n.796G=
c.756G= (p.Leu252=)
c.747G= (p.Leu249=)
c.711G= (p.Leu237=)
c.702G= (p.Leu234=)
c.678G= (p.Leu226=)
c.733G= (p.Asp245=)
c.724G= (p.Asp242=)
c.688G= (p.Asp230=)
c.681G= (p.Leu227=)
c.736G= (p.Asp246=)
c.727G= (p.Asp243=)
c.679G= (p.Asp227=)
c.658G= (p.Asp220=)
c.646G= (p.Asp216=)
n.719G=
17g.74695818C>GCA400935139CD300LF,RAB37c.624G>C (p.Leu208=)
c.670G>C (p.Asp224His)
c.72+24160C>G (n.72+24160C>G)
c.520G>C (p.Asp174His)
c.655G>C (p.Asp219His)
n.479+24160C>G
c.497G>C (p.Ter166Ser)
c.633G>C (p.Leu211=)
c.669G>C (p.Leu223=)
c.601G>C (p.Asp201His)
n.796G>C
c.756G>C (p.Leu252=)
c.747G>C (p.Leu249=)
c.711G>C (p.Leu237=)
c.702G>C (p.Leu234=)
c.678G>C (p.Leu226=)
c.733G>C (p.Asp245His)
c.724G>C (p.Asp242His)
c.688G>C (p.Asp230His)
c.681G>C (p.Leu227=)
c.736G>C (p.Asp246His)
c.727G>C (p.Asp243His)
c.679G>C (p.Asp227His)
c.658G>C (p.Asp220His)
c.646G>C (p.Asp216His)
n.719G>C
17g.74695818C>TCA8749770CD300LF,RAB37c.624G>A (p.Leu208=)
c.670G>A (p.Asp224Asn)
c.72+24160C>T (n.72+24160C>T)
c.520G>A (p.Asp174Asn)
c.655G>A (p.Asp219Asn)
n.479+24160C>T
c.497G>A (p.Ter166=)
c.633G>A (p.Leu211=)
c.669G>A (p.Leu223=)
c.601G>A (p.Asp201Asn)
n.796G>A
c.756G>A (p.Leu252=)
c.747G>A (p.Leu249=)
c.711G>A (p.Leu237=)
c.702G>A (p.Leu234=)
c.678G>A (p.Leu226=)
c.733G>A (p.Asp245Asn)
c.724G>A (p.Asp242Asn)
c.688G>A (p.Asp230Asn)
c.681G>A (p.Leu227=)
c.736G>A (p.Asp246Asn)
c.727G>A (p.Asp243Asn)
c.679G>A (p.Asp227Asn)
c.658G>A (p.Asp220Asn)
c.646G>A (p.Asp216Asn)
n.719G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695819A>CCA400935140CD300LF,RAB37c.623T>G (p.Leu208Arg)
c.669T>G (p.Pro223=)
c.72+24161A>C (n.72+24161A>C)
c.519T>G (p.Pro173=)
c.654T>G (p.Pro218=)
n.479+24161A>C
c.496T>G (p.Ter166Gly)
c.632T>G (p.Leu211Arg)
c.668T>G (p.Leu223Arg)
c.600T>G (p.Pro200=)
n.795T>G
c.755T>G (p.Leu252Arg)
c.746T>G (p.Leu249Arg)
c.710T>G (p.Leu237Arg)
c.701T>G (p.Leu234Arg)
c.677T>G (p.Leu226Arg)
c.732T>G (p.Pro244=)
c.723T>G (p.Pro241=)
c.687T>G (p.Pro229=)
c.680T>G (p.Leu227Arg)
c.735T>G (p.Pro245=)
c.726T>G (p.Pro242=)
c.678T>G (p.Pro226=)
c.657T>G (p.Pro219=)
c.645T>G (p.Pro215=)
n.718T>G
17g.74695819A>GCA400935141CD300LF,RAB37c.623T>C (p.Leu208Pro)
c.669T>C (p.Pro223=)
c.72+24161A>G (n.72+24161A>G)
c.519T>C (p.Pro173=)
c.654T>C (p.Pro218=)
n.479+24161A>G
c.496T>C (p.Ter166Arg)
c.632T>C (p.Leu211Pro)
c.668T>C (p.Leu223Pro)
c.600T>C (p.Pro200=)
n.795T>C
c.755T>C (p.Leu252Pro)
c.746T>C (p.Leu249Pro)
c.710T>C (p.Leu237Pro)
c.701T>C (p.Leu234Pro)
c.677T>C (p.Leu226Pro)
c.732T>C (p.Pro244=)
c.723T>C (p.Pro241=)
c.687T>C (p.Pro229=)
c.680T>C (p.Leu227Pro)
c.735T>C (p.Pro245=)
c.726T>C (p.Pro242=)
c.678T>C (p.Pro226=)
c.657T>C (p.Pro219=)
c.645T>C (p.Pro215=)
n.718T>C
17g.74695819A>TCA400935142CD300LF,RAB37c.623T>A (p.Leu208Gln)
c.669T>A (p.Pro223=)
c.72+24161A>T (n.72+24161A>T)
c.519T>A (p.Pro173=)
c.654T>A (p.Pro218=)
n.479+24161A>T
c.496T>A (p.Ter166Arg)
c.632T>A (p.Leu211Gln)
c.668T>A (p.Leu223Gln)
c.600T>A (p.Pro200=)
n.795T>A
c.755T>A (p.Leu252Gln)
c.746T>A (p.Leu249Gln)
c.710T>A (p.Leu237Gln)
c.701T>A (p.Leu234Gln)
c.677T>A (p.Leu226Gln)
c.732T>A (p.Pro244=)
c.723T>A (p.Pro241=)
c.687T>A (p.Pro229=)
c.680T>A (p.Leu227Gln)
c.735T>A (p.Pro245=)
c.726T>A (p.Pro242=)
c.678T>A (p.Pro226=)
c.657T>A (p.Pro219=)
c.645T>A (p.Pro215=)
n.718T>A
17g.74695819_74695824delCA2639711896CD300LF,RAB37c.618_623del (p.Asp207_Leu208del)
c.664_669del (p.Arg222_Pro223del)
c.72+24161_72+24166del (n.72+24161_72+24166del)
c.514_519del (p.Arg172_Pro173del)
c.649_654del (p.Arg217_Pro218del)
n.479+24161_479+24166del
c.491_496del (p.Gln164_Ter166delinsArg)
c.627_632del (p.Asp210_Leu211del)
c.663_668del (p.Asp222_Leu223del)
c.595_600del (p.Arg199_Pro200del)
n.790_795del
c.750_755del (p.Asp251_Leu252del)
c.741_746del (p.Asp248_Leu249del)
c.705_710del (p.Asp236_Leu237del)
c.696_701del (p.Asp233_Leu234del)
c.672_677del (p.Asp225_Leu226del)
c.727_732del (p.Arg243_Pro244del)
c.718_723del (p.Arg240_Pro241del)
c.682_687del (p.Arg228_Pro229del)
c.675_680del (p.Asp226_Leu227del)
c.730_735del (p.Arg244_Pro245del)
c.721_726del (p.Arg241_Pro242del)
c.673_678del (p.Arg225_Pro226del)
c.652_657del (p.Arg218_Pro219del)
c.640_645del (p.Arg214_Pro215del)
n.713_718del
 gnomAD v4
17g.74695820G>ACA400935143CD300LF,RAB37c.622C>T (p.Leu208=)
c.668C>T (p.Pro223Leu)
c.72+24162G>A (n.72+24162G>A)
c.518C>T (p.Pro173Leu)
c.653C>T (p.Pro218Leu)
n.479+24162G>A
c.495C>T (p.Thr165=)
c.631C>T (p.Leu211=)
c.667C>T (p.Leu223=)
c.599C>T (p.Pro200Leu)
n.794C>T
c.754C>T (p.Leu252=)
c.745C>T (p.Leu249=)
c.709C>T (p.Leu237=)
c.700C>T (p.Leu234=)
c.676C>T (p.Leu226=)
c.731C>T (p.Pro244Leu)
c.722C>T (p.Pro241Leu)
c.686C>T (p.Pro229Leu)
c.679C>T (p.Leu227=)
c.734C>T (p.Pro245Leu)
c.725C>T (p.Pro242Leu)
c.677C>T (p.Pro226Leu)
c.656C>T (p.Pro219Leu)
c.644C>T (p.Pro215Leu)
n.717C>T
 gnomAD v4
17g.74695820G>CCA400935144CD300LF,RAB37c.622C>G (p.Leu208Val)
c.668C>G (p.Pro223Arg)
c.72+24162G>C (n.72+24162G>C)
c.518C>G (p.Pro173Arg)
c.653C>G (p.Pro218Arg)
n.479+24162G>C
c.495C>G (p.Thr165=)
c.631C>G (p.Leu211Val)
c.667C>G (p.Leu223Val)
c.599C>G (p.Pro200Arg)
n.794C>G
c.754C>G (p.Leu252Val)
c.745C>G (p.Leu249Val)
c.709C>G (p.Leu237Val)
c.700C>G (p.Leu234Val)
c.676C>G (p.Leu226Val)
c.731C>G (p.Pro244Arg)
c.722C>G (p.Pro241Arg)
c.686C>G (p.Pro229Arg)
c.679C>G (p.Leu227Val)
c.734C>G (p.Pro245Arg)
c.725C>G (p.Pro242Arg)
c.677C>G (p.Pro226Arg)
c.656C>G (p.Pro219Arg)
c.644C>G (p.Pro215Arg)
n.717C>G
17g.74695820G>TCA400935145CD300LF,RAB37c.622C>A (p.Leu208Met)
c.668C>A (p.Pro223His)
c.72+24162G>T (n.72+24162G>T)
c.518C>A (p.Pro173His)
c.653C>A (p.Pro218His)
n.479+24162G>T
c.495C>A (p.Thr165=)
c.631C>A (p.Leu211Met)
c.667C>A (p.Leu223Met)
c.599C>A (p.Pro200His)
n.794C>A
c.754C>A (p.Leu252Met)
c.745C>A (p.Leu249Met)
c.709C>A (p.Leu237Met)
c.700C>A (p.Leu234Met)
c.676C>A (p.Leu226Met)
c.731C>A (p.Pro244His)
c.722C>A (p.Pro241His)
c.686C>A (p.Pro229His)
c.679C>A (p.Leu227Met)
c.734C>A (p.Pro245His)
c.725C>A (p.Pro242His)
c.677C>A (p.Pro226His)
c.656C>A (p.Pro219His)
c.644C>A (p.Pro215His)
n.717C>A
17g.74695821G>ACA400935146CD300LF,RAB37c.621C>T (p.Asp207=)
c.667C>T (p.Pro223Ser)
c.72+24163G>A (n.72+24163G>A)
c.517C>T (p.Pro173Ser)
c.652C>T (p.Pro218Ser)
n.479+24163G>A
c.494C>T (p.Thr165Ile)
c.630C>T (p.Asp210=)
c.666C>T (p.Asp222=)
c.598C>T (p.Pro200Ser)
n.793C>T
c.753C>T (p.Asp251=)
c.744C>T (p.Asp248=)
c.708C>T (p.Asp236=)
c.699C>T (p.Asp233=)
c.675C>T (p.Asp225=)
c.730C>T (p.Pro244Ser)
c.721C>T (p.Pro241Ser)
c.685C>T (p.Pro229Ser)
c.678C>T (p.Asp226=)
c.733C>T (p.Pro245Ser)
c.724C>T (p.Pro242Ser)
c.676C>T (p.Pro226Ser)
c.655C>T (p.Pro219Ser)
c.643C>T (p.Pro215Ser)
n.716C>T
17g.74695821G>CCA400935147CD300LF,RAB37c.621C>G (p.Asp207Glu)
c.667C>G (p.Pro223Ala)
c.72+24163G>C (n.72+24163G>C)
c.517C>G (p.Pro173Ala)
c.652C>G (p.Pro218Ala)
n.479+24163G>C
c.494C>G (p.Thr165Ser)
c.630C>G (p.Asp210Glu)
c.666C>G (p.Asp222Glu)
c.598C>G (p.Pro200Ala)
n.793C>G
c.753C>G (p.Asp251Glu)
c.744C>G (p.Asp248Glu)
c.708C>G (p.Asp236Glu)
c.699C>G (p.Asp233Glu)
c.675C>G (p.Asp225Glu)
c.730C>G (p.Pro244Ala)
c.721C>G (p.Pro241Ala)
c.685C>G (p.Pro229Ala)
c.678C>G (p.Asp226Glu)
c.733C>G (p.Pro245Ala)
c.724C>G (p.Pro242Ala)
c.676C>G (p.Pro226Ala)
c.655C>G (p.Pro219Ala)
c.643C>G (p.Pro215Ala)
n.716C>G
17g.74695821G>TCA400935148CD300LF,RAB37c.621C>A (p.Asp207Glu)
c.667C>A (p.Pro223Thr)
c.72+24163G>T (n.72+24163G>T)
c.517C>A (p.Pro173Thr)
c.652C>A (p.Pro218Thr)
n.479+24163G>T
c.494C>A (p.Thr165Asn)
c.630C>A (p.Asp210Glu)
c.666C>A (p.Asp222Glu)
c.598C>A (p.Pro200Thr)
n.793C>A
c.753C>A (p.Asp251Glu)
c.744C>A (p.Asp248Glu)
c.708C>A (p.Asp236Glu)
c.699C>A (p.Asp233Glu)
c.675C>A (p.Asp225Glu)
c.730C>A (p.Pro244Thr)
c.721C>A (p.Pro241Thr)
c.685C>A (p.Pro229Thr)
c.678C>A (p.Asp226Glu)
c.733C>A (p.Pro245Thr)
c.724C>A (p.Pro242Thr)
c.676C>A (p.Pro226Thr)
c.655C>A (p.Pro219Thr)
c.643C>A (p.Pro215Thr)
n.716C>A
 gnomAD v4
17g.74695822T>ACA8749771CD300LF,RAB37c.620A>T (p.Asp207Val)
c.666A>T (p.Arg222Ser)
c.72+24164T>A (n.72+24164T>A)
c.516A>T (p.Arg172Ser)
c.651A>T (p.Arg217Ser)
n.479+24164T>A
c.493A>T (p.Thr165Ser)
c.629A>T (p.Asp210Val)
c.665A>T (p.Asp222Val)
c.597A>T (p.Arg199Ser)
n.792A>T
c.752A>T (p.Asp251Val)
c.743A>T (p.Asp248Val)
c.707A>T (p.Asp236Val)
c.698A>T (p.Asp233Val)
c.674A>T (p.Asp225Val)
c.729A>T (p.Arg243Ser)
c.720A>T (p.Arg240Ser)
c.684A>T (p.Arg228Ser)
c.677A>T (p.Asp226Val)
c.732A>T (p.Arg244Ser)
c.723A>T (p.Arg241Ser)
c.675A>T (p.Arg225Ser)
c.654A>T (p.Arg218Ser)
c.642A>T (p.Arg214Ser)
n.715A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695822T>CCA400935150CD300LF,RAB37c.620A>G (p.Asp207Gly)
c.666A>G (p.Arg222=)
c.72+24164T>C (n.72+24164T>C)
c.516A>G (p.Arg172=)
c.651A>G (p.Arg217=)
n.479+24164T>C
c.493A>G (p.Thr165Ala)
c.629A>G (p.Asp210Gly)
c.665A>G (p.Asp222Gly)
c.597A>G (p.Arg199=)
n.792A>G
c.752A>G (p.Asp251Gly)
c.743A>G (p.Asp248Gly)
c.707A>G (p.Asp236Gly)
c.698A>G (p.Asp233Gly)
c.674A>G (p.Asp225Gly)
c.729A>G (p.Arg243=)
c.720A>G (p.Arg240=)
c.684A>G (p.Arg228=)
c.677A>G (p.Asp226Gly)
c.732A>G (p.Arg244=)
c.723A>G (p.Arg241=)
c.675A>G (p.Arg225=)
c.654A>G (p.Arg218=)
c.642A>G (p.Arg214=)
n.715A>G
17g.74695822T>GCA400935149CD300LF,RAB37c.620A>C (p.Asp207Ala)
c.666A>C (p.Arg222Ser)
c.72+24164T>G (n.72+24164T>G)
c.516A>C (p.Arg172Ser)
c.651A>C (p.Arg217Ser)
n.479+24164T>G
c.493A>C (p.Thr165Pro)
c.629A>C (p.Asp210Ala)
c.665A>C (p.Asp222Ala)
c.597A>C (p.Arg199Ser)
n.792A>C
c.752A>C (p.Asp251Ala)
c.743A>C (p.Asp248Ala)
c.707A>C (p.Asp236Ala)
c.698A>C (p.Asp233Ala)
c.674A>C (p.Asp225Ala)
c.729A>C (p.Arg243Ser)
c.720A>C (p.Arg240Ser)
c.684A>C (p.Arg228Ser)
c.677A>C (p.Asp226Ala)
c.732A>C (p.Arg244Ser)
c.723A>C (p.Arg241Ser)
c.675A>C (p.Arg225Ser)
c.654A>C (p.Arg218Ser)
c.642A>C (p.Arg214Ser)
n.715A>C
17g.74695822T=CA2275147033CD300LF,RAB37c.620A= (p.Asp207=)
c.666A= (p.Arg222=)
c.72+24164T= (n.72+24164T=)
c.516A= (p.Arg172=)
c.651A= (p.Arg217=)
n.479+24164T=
c.493A= (p.Thr165=)
c.629A= (p.Asp210=)
c.665A= (p.Asp222=)
c.597A= (p.Arg199=)
n.792A=
c.752A= (p.Asp251=)
c.743A= (p.Asp248=)
c.707A= (p.Asp236=)
c.698A= (p.Asp233=)
c.674A= (p.Asp225=)
c.729A= (p.Arg243=)
c.720A= (p.Arg240=)
c.684A= (p.Arg228=)
c.677A= (p.Asp226=)
c.732A= (p.Arg244=)
c.723A= (p.Arg241=)
c.675A= (p.Arg225=)
c.654A= (p.Arg218=)
c.642A= (p.Arg214=)
n.715A=
17g.74695823C>ACA400935153CD300LF,RAB37c.619G>T (p.Asp207Tyr)
c.665G>T (p.Arg222Ile)
c.72+24165C>A (n.72+24165C>A)
c.515G>T (p.Arg172Ile)
c.650G>T (p.Arg217Ile)
n.479+24165C>A
c.492G>T (p.Gln164His)
c.628G>T (p.Asp210Tyr)
c.664G>T (p.Asp222Tyr)
c.596G>T (p.Arg199Ile)
n.791G>T
c.751G>T (p.Asp251Tyr)
c.742G>T (p.Asp248Tyr)
c.706G>T (p.Asp236Tyr)
c.697G>T (p.Asp233Tyr)
c.673G>T (p.Asp225Tyr)
c.728G>T (p.Arg243Ile)
c.719G>T (p.Arg240Ile)
c.683G>T (p.Arg228Ile)
c.676G>T (p.Asp226Tyr)
c.731G>T (p.Arg244Ile)
c.722G>T (p.Arg241Ile)
c.674G>T (p.Arg225Ile)
c.653G>T (p.Arg218Ile)
c.641G>T (p.Arg214Ile)
n.714G>T
17g.74695823C>GCA400935151CD300LF,RAB37c.619G>C (p.Asp207His)
c.665G>C (p.Arg222Thr)
c.72+24165C>G (n.72+24165C>G)
c.515G>C (p.Arg172Thr)
c.650G>C (p.Arg217Thr)
n.479+24165C>G
c.492G>C (p.Gln164His)
c.628G>C (p.Asp210His)
c.664G>C (p.Asp222His)
c.596G>C (p.Arg199Thr)
n.791G>C
c.751G>C (p.Asp251His)
c.742G>C (p.Asp248His)
c.706G>C (p.Asp236His)
c.697G>C (p.Asp233His)
c.673G>C (p.Asp225His)
c.728G>C (p.Arg243Thr)
c.719G>C (p.Arg240Thr)
c.683G>C (p.Arg228Thr)
c.676G>C (p.Asp226His)
c.731G>C (p.Arg244Thr)
c.722G>C (p.Arg241Thr)
c.674G>C (p.Arg225Thr)
c.653G>C (p.Arg218Thr)
c.641G>C (p.Arg214Thr)
n.714G>C
17g.74695823C>TCA400935152CD300LF,RAB37c.619G>A (p.Asp207Asn)
c.665G>A (p.Arg222Lys)
c.72+24165C>T (n.72+24165C>T)
c.515G>A (p.Arg172Lys)
c.650G>A (p.Arg217Lys)
n.479+24165C>T
c.492G>A (p.Gln164=)
c.628G>A (p.Asp210Asn)
c.664G>A (p.Asp222Asn)
c.596G>A (p.Arg199Lys)
n.791G>A
c.751G>A (p.Asp251Asn)
c.742G>A (p.Asp248Asn)
c.706G>A (p.Asp236Asn)
c.697G>A (p.Asp233Asn)
c.673G>A (p.Asp225Asn)
c.728G>A (p.Arg243Lys)
c.719G>A (p.Arg240Lys)
c.683G>A (p.Arg228Lys)
c.676G>A (p.Asp226Asn)
c.731G>A (p.Arg244Lys)
c.722G>A (p.Arg241Lys)
c.674G>A (p.Arg225Lys)
c.653G>A (p.Arg218Lys)
c.641G>A (p.Arg214Lys)
n.714G>A
17g.74695824T>ACA400935154CD300LF,RAB37c.618A>T (p.Ala206=)
c.664A>T (p.Arg222Ter)
c.72+24166T>A (n.72+24166T>A)
c.514A>T (p.Arg172Ter)
c.649A>T (p.Arg217Ter)
n.479+24166T>A
c.491A>T (p.Gln164Leu)
c.627A>T (p.Ala209=)
c.663A>T (p.Ala221=)
c.595A>T (p.Arg199Ter)
n.790A>T
c.750A>T (p.Ala250=)
c.741A>T (p.Ala247=)
c.705A>T (p.Ala235=)
c.696A>T (p.Ala232=)
c.672A>T (p.Ala224=)
c.727A>T (p.Arg243Ter)
c.718A>T (p.Arg240Ter)
c.682A>T (p.Arg228Ter)
c.675A>T (p.Ala225=)
c.730A>T (p.Arg244Ter)
c.721A>T (p.Arg241Ter)
c.673A>T (p.Arg225Ter)
c.652A>T (p.Arg218Ter)
c.640A>T (p.Arg214Ter)
n.713A>T
17g.74695824T>CCA400935155CD300LF,RAB37c.618A>G (p.Ala206=)
c.664A>G (p.Arg222Gly)
c.72+24166T>C (n.72+24166T>C)
c.514A>G (p.Arg172Gly)
c.649A>G (p.Arg217Gly)
n.479+24166T>C
c.491A>G (p.Gln164Arg)
c.627A>G (p.Ala209=)
c.663A>G (p.Ala221=)
c.595A>G (p.Arg199Gly)
n.790A>G
c.750A>G (p.Ala250=)
c.741A>G (p.Ala247=)
c.705A>G (p.Ala235=)
c.696A>G (p.Ala232=)
c.672A>G (p.Ala224=)
c.727A>G (p.Arg243Gly)
c.718A>G (p.Arg240Gly)
c.682A>G (p.Arg228Gly)
c.675A>G (p.Ala225=)
c.730A>G (p.Arg244Gly)
c.721A>G (p.Arg241Gly)
c.673A>G (p.Arg225Gly)
c.652A>G (p.Arg218Gly)
c.640A>G (p.Arg214Gly)
n.713A>G
17g.74695824T>GCA501745347CD300LF,RAB37c.618A>C (p.Ala206=)
c.664A>C (p.Arg222=)
c.72+24166T>G (n.72+24166T>G)
c.514A>C (p.Arg172=)
c.649A>C (p.Arg217=)
n.479+24166T>G
c.491A>C (p.Gln164Pro)
c.627A>C (p.Ala209=)
c.663A>C (p.Ala221=)
c.595A>C (p.Arg199=)
n.790A>C
c.750A>C (p.Ala250=)
c.741A>C (p.Ala247=)
c.705A>C (p.Ala235=)
c.696A>C (p.Ala232=)
c.672A>C (p.Ala224=)
c.727A>C (p.Arg243=)
c.718A>C (p.Arg240=)
c.682A>C (p.Arg228=)
c.675A>C (p.Ala225=)
c.730A>C (p.Arg244=)
c.721A>C (p.Arg241=)
c.673A>C (p.Arg225=)
c.652A>C (p.Arg218=)
c.640A>C (p.Arg214=)
n.713A>C
17g.74695825G>ACA400935156CD300LF,RAB37c.617C>T (p.Ala206Val)
c.663C>T (p.Cys221=)
c.72+24167G>A (n.72+24167G>A)
c.513C>T (p.Cys171=)
c.648C>T (p.Cys216=)
n.479+24167G>A
c.490C>T (p.Gln164Ter)
c.626C>T (p.Ala209Val)
c.662C>T (p.Ala221Val)
c.594C>T (p.Cys198=)
n.789C>T
c.749C>T (p.Ala250Val)
c.740C>T (p.Ala247Val)
c.704C>T (p.Ala235Val)
c.695C>T (p.Ala232Val)
c.671C>T (p.Ala224Val)
c.726C>T (p.Cys242=)
c.717C>T (p.Cys239=)
c.681C>T (p.Cys227=)
c.674C>T (p.Ala225Val)
c.729C>T (p.Cys243=)
c.720C>T (p.Cys240=)
c.672C>T (p.Cys224=)
c.651C>T (p.Cys217=)
c.639C>T (p.Cys213=)
n.712C>T
17g.74695825G>CCA400935157CD300LF,RAB37c.617C>G (p.Ala206Gly)
c.663C>G (p.Cys221Trp)
c.72+24167G>C (n.72+24167G>C)
c.513C>G (p.Cys171Trp)
c.648C>G (p.Cys216Trp)
n.479+24167G>C
c.490C>G (p.Gln164Glu)
c.626C>G (p.Ala209Gly)
c.662C>G (p.Ala221Gly)
c.594C>G (p.Cys198Trp)
n.789C>G
c.749C>G (p.Ala250Gly)
c.740C>G (p.Ala247Gly)
c.704C>G (p.Ala235Gly)
c.695C>G (p.Ala232Gly)
c.671C>G (p.Ala224Gly)
c.726C>G (p.Cys242Trp)
c.717C>G (p.Cys239Trp)
c.681C>G (p.Cys227Trp)
c.674C>G (p.Ala225Gly)
c.729C>G (p.Cys243Trp)
c.720C>G (p.Cys240Trp)
c.672C>G (p.Cys224Trp)
c.651C>G (p.Cys217Trp)
c.639C>G (p.Cys213Trp)
n.712C>G
17g.74695825G=CA2275147034CD300LF,RAB37c.617C= (p.Ala206=)
c.663C= (p.Cys221=)
c.72+24167G= (n.72+24167G=)
c.513C= (p.Cys171=)
c.648C= (p.Cys216=)
n.479+24167G=
c.490C= (p.Gln164=)
c.626C= (p.Ala209=)
c.662C= (p.Ala221=)
c.594C= (p.Cys198=)
n.789C=
c.749C= (p.Ala250=)
c.740C= (p.Ala247=)
c.704C= (p.Ala235=)
c.695C= (p.Ala232=)
c.671C= (p.Ala224=)
c.726C= (p.Cys242=)
c.717C= (p.Cys239=)
c.681C= (p.Cys227=)
c.674C= (p.Ala225=)
c.729C= (p.Cys243=)
c.720C= (p.Cys240=)
c.672C= (p.Cys224=)
c.651C= (p.Cys217=)
c.639C= (p.Cys213=)
n.712C=
17g.74695825G>TCA400935158CD300LF,RAB37c.617C>A (p.Ala206Glu)
c.663C>A (p.Cys221Ter)
c.72+24167G>T (n.72+24167G>T)
c.513C>A (p.Cys171Ter)
c.648C>A (p.Cys216Ter)
n.479+24167G>T
c.490C>A (p.Gln164Lys)
c.626C>A (p.Ala209Glu)
c.662C>A (p.Ala221Glu)
c.594C>A (p.Cys198Ter)
n.789C>A
c.749C>A (p.Ala250Glu)
c.740C>A (p.Ala247Glu)
c.704C>A (p.Ala235Glu)
c.695C>A (p.Ala232Glu)
c.671C>A (p.Ala224Glu)
c.726C>A (p.Cys242Ter)
c.717C>A (p.Cys239Ter)
c.681C>A (p.Cys227Ter)
c.674C>A (p.Ala225Glu)
c.729C>A (p.Cys243Ter)
c.720C>A (p.Cys240Ter)
c.672C>A (p.Cys224Ter)
c.651C>A (p.Cys217Ter)
c.639C>A (p.Cys213Ter)
n.712C>A
 dbSNP gnomAD v2
17g.74695826C>ACA400935159CD300LF,RAB37c.616G>T (p.Ala206Ser)
c.662G>T (p.Cys221Phe)
c.72+24168C>A (n.72+24168C>A)
c.512G>T (p.Cys171Phe)
c.647G>T (p.Cys216Phe)
n.479+24168C>A
c.489G>T (p.Met163Ile)
c.625G>T (p.Ala209Ser)
c.661G>T (p.Ala221Ser)
c.593G>T (p.Cys198Phe)
n.788G>T
c.748G>T (p.Ala250Ser)
c.739G>T (p.Ala247Ser)
c.703G>T (p.Ala235Ser)
c.694G>T (p.Ala232Ser)
c.670G>T (p.Ala224Ser)
c.725G>T (p.Cys242Phe)
c.716G>T (p.Cys239Phe)
c.680G>T (p.Cys227Phe)
c.673G>T (p.Ala225Ser)
c.728G>T (p.Cys243Phe)
c.719G>T (p.Cys240Phe)
c.671G>T (p.Cys224Phe)
c.650G>T (p.Cys217Phe)
c.638G>T (p.Cys213Phe)
n.711G>T
17g.74695826C=CA2275147035CD300LF,RAB37c.616G= (p.Ala206=)
c.662G= (p.Cys221=)
c.72+24168C= (n.72+24168C=)
c.512G= (p.Cys171=)
c.647G= (p.Cys216=)
n.479+24168C=
c.489G= (p.Met163=)
c.625G= (p.Ala209=)
c.661G= (p.Ala221=)
c.593G= (p.Cys198=)
n.788G=
c.748G= (p.Ala250=)
c.739G= (p.Ala247=)
c.703G= (p.Ala235=)
c.694G= (p.Ala232=)
c.670G= (p.Ala224=)
c.725G= (p.Cys242=)
c.716G= (p.Cys239=)
c.680G= (p.Cys227=)
c.673G= (p.Ala225=)
c.728G= (p.Cys243=)
c.719G= (p.Cys240=)
c.671G= (p.Cys224=)
c.650G= (p.Cys217=)
c.638G= (p.Cys213=)
n.711G=
17g.74695826C>GCA400935160CD300LF,RAB37c.616G>C (p.Ala206Pro)
c.662G>C (p.Cys221Ser)
c.72+24168C>G (n.72+24168C>G)
c.512G>C (p.Cys171Ser)
c.647G>C (p.Cys216Ser)
n.479+24168C>G
c.489G>C (p.Met163Ile)
c.625G>C (p.Ala209Pro)
c.661G>C (p.Ala221Pro)
c.593G>C (p.Cys198Ser)
n.788G>C
c.748G>C (p.Ala250Pro)
c.739G>C (p.Ala247Pro)
c.703G>C (p.Ala235Pro)
c.694G>C (p.Ala232Pro)
c.670G>C (p.Ala224Pro)
c.725G>C (p.Cys242Ser)
c.716G>C (p.Cys239Ser)
c.680G>C (p.Cys227Ser)
c.673G>C (p.Ala225Pro)
c.728G>C (p.Cys243Ser)
c.719G>C (p.Cys240Ser)
c.671G>C (p.Cys224Ser)
c.650G>C (p.Cys217Ser)
c.638G>C (p.Cys213Ser)
n.711G>C
17g.74695826C>TCA400935161CD300LF,RAB37c.616G>A (p.Ala206Thr)
c.662G>A (p.Cys221Tyr)
c.72+24168C>T (n.72+24168C>T)
c.512G>A (p.Cys171Tyr)
c.647G>A (p.Cys216Tyr)
n.479+24168C>T
c.489G>A (p.Met163Ile)
c.625G>A (p.Ala209Thr)
c.661G>A (p.Ala221Thr)
c.593G>A (p.Cys198Tyr)
n.788G>A
c.748G>A (p.Ala250Thr)
c.739G>A (p.Ala247Thr)
c.703G>A (p.Ala235Thr)
c.694G>A (p.Ala232Thr)
c.670G>A (p.Ala224Thr)
c.725G>A (p.Cys242Tyr)
c.716G>A (p.Cys239Tyr)
c.680G>A (p.Cys227Tyr)
c.673G>A (p.Ala225Thr)
c.728G>A (p.Cys243Tyr)
c.719G>A (p.Cys240Tyr)
c.671G>A (p.Cys224Tyr)
c.650G>A (p.Cys217Tyr)
c.638G>A (p.Cys213Tyr)
n.711G>A
 dbSNP
17g.74695827A=CA2275147036CD300LF,RAB37c.615T= (p.Tyr205=)
c.661T= (p.Cys221=)
c.72+24169A= (n.72+24169A=)
c.511T= (p.Cys171=)
c.646T= (p.Cys216=)
n.479+24169A=
c.488T= (p.Met163=)
c.624T= (p.Tyr208=)
c.660T= (p.Tyr220=)
c.592T= (p.Cys198=)
n.787T=
c.747T= (p.Tyr249=)
c.738T= (p.Tyr246=)
c.702T= (p.Tyr234=)
c.693T= (p.Tyr231=)
c.669T= (p.Tyr223=)
c.724T= (p.Cys242=)
c.715T= (p.Cys239=)
c.679T= (p.Cys227=)
c.672T= (p.Tyr224=)
c.727T= (p.Cys243=)
c.718T= (p.Cys240=)
c.670T= (p.Cys224=)
c.649T= (p.Cys217=)
c.637T= (p.Cys213=)
n.710T=
17g.74695827A>CCA400935162CD300LF,RAB37c.615T>G (p.Tyr205Ter)
c.661T>G (p.Cys221Gly)
c.72+24169A>C (n.72+24169A>C)
c.511T>G (p.Cys171Gly)
c.646T>G (p.Cys216Gly)
n.479+24169A>C
c.488T>G (p.Met163Arg)
c.624T>G (p.Tyr208Ter)
c.660T>G (p.Tyr220Ter)
c.592T>G (p.Cys198Gly)
n.787T>G
c.747T>G (p.Tyr249Ter)
c.738T>G (p.Tyr246Ter)
c.702T>G (p.Tyr234Ter)
c.693T>G (p.Tyr231Ter)
c.669T>G (p.Tyr223Ter)
c.724T>G (p.Cys242Gly)
c.715T>G (p.Cys239Gly)
c.679T>G (p.Cys227Gly)
c.672T>G (p.Tyr224Ter)
c.727T>G (p.Cys243Gly)
c.718T>G (p.Cys240Gly)
c.670T>G (p.Cys224Gly)
c.649T>G (p.Cys217Gly)
c.637T>G (p.Cys213Gly)
n.710T>G
17g.74695827A>GCA400935163CD300LF,RAB37c.615T>C (p.Tyr205=)
c.661T>C (p.Cys221Arg)
c.72+24169A>G (n.72+24169A>G)
c.511T>C (p.Cys171Arg)
c.646T>C (p.Cys216Arg)
n.479+24169A>G
c.488T>C (p.Met163Thr)
c.624T>C (p.Tyr208=)
c.660T>C (p.Tyr220=)
c.592T>C (p.Cys198Arg)
n.787T>C
c.747T>C (p.Tyr249=)
c.738T>C (p.Tyr246=)
c.702T>C (p.Tyr234=)
c.693T>C (p.Tyr231=)
c.669T>C (p.Tyr223=)
c.724T>C (p.Cys242Arg)
c.715T>C (p.Cys239Arg)
c.679T>C (p.Cys227Arg)
c.672T>C (p.Tyr224=)
c.727T>C (p.Cys243Arg)
c.718T>C (p.Cys240Arg)
c.670T>C (p.Cys224Arg)
c.649T>C (p.Cys217Arg)
c.637T>C (p.Cys213Arg)
n.710T>C
 dbSNP
17g.74695827A>TCA400935164CD300LF,RAB37c.615T>A (p.Tyr205Ter)
c.661T>A (p.Cys221Ser)
c.72+24169A>T (n.72+24169A>T)
c.511T>A (p.Cys171Ser)
c.646T>A (p.Cys216Ser)
n.479+24169A>T
c.488T>A (p.Met163Lys)
c.624T>A (p.Tyr208Ter)
c.660T>A (p.Tyr220Ter)
c.592T>A (p.Cys198Ser)
n.787T>A
c.747T>A (p.Tyr249Ter)
c.738T>A (p.Tyr246Ter)
c.702T>A (p.Tyr234Ter)
c.693T>A (p.Tyr231Ter)
c.669T>A (p.Tyr223Ter)
c.724T>A (p.Cys242Ser)
c.715T>A (p.Cys239Ser)
c.679T>A (p.Cys227Ser)
c.672T>A (p.Tyr224Ter)
c.727T>A (p.Cys243Ser)
c.718T>A (p.Cys240Ser)
c.670T>A (p.Cys224Ser)
c.649T>A (p.Cys217Ser)
c.637T>A (p.Cys213Ser)
n.710T>A
17g.74695828T>ACA400935165CD300LF,RAB37c.614A>T (p.Tyr205Phe)
c.660A>T (p.Leu220=)
c.72+24170T>A (n.72+24170T>A)
c.510A>T (p.Leu170=)
c.645A>T (p.Leu215=)
n.479+24170T>A
c.487A>T (p.Met163Leu)
c.623A>T (p.Tyr208Phe)
c.659A>T (p.Tyr220Phe)
c.591A>T (p.Leu197=)
n.786A>T
c.746A>T (p.Tyr249Phe)
c.737A>T (p.Tyr246Phe)
c.701A>T (p.Tyr234Phe)
c.692A>T (p.Tyr231Phe)
c.668A>T (p.Tyr223Phe)
c.723A>T (p.Leu241=)
c.714A>T (p.Leu238=)
c.678A>T (p.Leu226=)
c.671A>T (p.Tyr224Phe)
c.726A>T (p.Leu242=)
c.717A>T (p.Leu239=)
c.669A>T (p.Leu223=)
c.648A>T (p.Leu216=)
c.636A>T (p.Leu212=)
n.709A>T
17g.74695828T>CCA8749772CD300LF,RAB37c.614A>G (p.Tyr205Cys)
c.660A>G (p.Leu220=)
c.72+24170T>C (n.72+24170T>C)
c.510A>G (p.Leu170=)
c.645A>G (p.Leu215=)
n.479+24170T>C
c.487A>G (p.Met163Val)
c.623A>G (p.Tyr208Cys)
c.659A>G (p.Tyr220Cys)
c.591A>G (p.Leu197=)
n.786A>G
c.746A>G (p.Tyr249Cys)
c.737A>G (p.Tyr246Cys)
c.701A>G (p.Tyr234Cys)
c.692A>G (p.Tyr231Cys)
c.668A>G (p.Tyr223Cys)
c.723A>G (p.Leu241=)
c.714A>G (p.Leu238=)
c.678A>G (p.Leu226=)
c.671A>G (p.Tyr224Cys)
c.726A>G (p.Leu242=)
c.717A>G (p.Leu239=)
c.669A>G (p.Leu223=)
c.648A>G (p.Leu216=)
c.636A>G (p.Leu212=)
n.709A>G
 dbSNP ExAC gnomAD v2
17g.74695828T>GCA400935166CD300LF,RAB37c.614A>C (p.Tyr205Ser)
c.660A>C (p.Leu220=)
c.72+24170T>G (n.72+24170T>G)
c.510A>C (p.Leu170=)
c.645A>C (p.Leu215=)
n.479+24170T>G
c.487A>C (p.Met163Leu)
c.623A>C (p.Tyr208Ser)
c.659A>C (p.Tyr220Ser)
c.591A>C (p.Leu197=)
n.786A>C
c.746A>C (p.Tyr249Ser)
c.737A>C (p.Tyr246Ser)
c.701A>C (p.Tyr234Ser)
c.692A>C (p.Tyr231Ser)
c.668A>C (p.Tyr223Ser)
c.723A>C (p.Leu241=)
c.714A>C (p.Leu238=)
c.678A>C (p.Leu226=)
c.671A>C (p.Tyr224Ser)
c.726A>C (p.Leu242=)
c.717A>C (p.Leu239=)
c.669A>C (p.Leu223=)
c.648A>C (p.Leu216=)
c.636A>C (p.Leu212=)
n.709A>C
 dbSNP gnomAD v3 gnomAD v4
17g.74695828T=CA2275147037CD300LF,RAB37c.614A= (p.Tyr205=)
c.660A= (p.Leu220=)
c.72+24170T= (n.72+24170T=)
c.510A= (p.Leu170=)
c.645A= (p.Leu215=)
n.479+24170T=
c.487A= (p.Met163=)
c.623A= (p.Tyr208=)
c.659A= (p.Tyr220=)
c.591A= (p.Leu197=)
n.786A=
c.746A= (p.Tyr249=)
c.737A= (p.Tyr246=)
c.701A= (p.Tyr234=)
c.692A= (p.Tyr231=)
c.668A= (p.Tyr223=)
c.723A= (p.Leu241=)
c.714A= (p.Leu238=)
c.678A= (p.Leu226=)
c.671A= (p.Tyr224=)
c.726A= (p.Leu242=)
c.717A= (p.Leu239=)
c.669A= (p.Leu223=)
c.648A= (p.Leu216=)
c.636A= (p.Leu212=)
n.709A=
17g.74695829A=CA2275147038CD300LF,RAB37c.613T= (p.Tyr205=)
c.659T= (p.Leu220=)
c.72+24171A= (n.72+24171A=)
c.509T= (p.Leu170=)
c.644T= (p.Leu215=)
n.479+24171A=
c.486T= (p.Ala162=)
c.622T= (p.Tyr208=)
c.658T= (p.Tyr220=)
c.590T= (p.Leu197=)
n.785T=
c.745T= (p.Tyr249=)
c.736T= (p.Tyr246=)
c.700T= (p.Tyr234=)
c.691T= (p.Tyr231=)
c.667T= (p.Tyr223=)
c.722T= (p.Leu241=)
c.713T= (p.Leu238=)
c.677T= (p.Leu226=)
c.670T= (p.Tyr224=)
c.725T= (p.Leu242=)
c.716T= (p.Leu239=)
c.668T= (p.Leu223=)
c.647T= (p.Leu216=)
c.635T= (p.Leu212=)
n.708T=
17g.74695829A>CCA400935167CD300LF,RAB37c.613T>G (p.Tyr205Asp)
c.659T>G (p.Leu220Arg)
c.72+24171A>C (n.72+24171A>C)
c.509T>G (p.Leu170Arg)
c.644T>G (p.Leu215Arg)
n.479+24171A>C
c.486T>G (p.Ala162=)
c.622T>G (p.Tyr208Asp)
c.658T>G (p.Tyr220Asp)
c.590T>G (p.Leu197Arg)
n.785T>G
c.745T>G (p.Tyr249Asp)
c.736T>G (p.Tyr246Asp)
c.700T>G (p.Tyr234Asp)
c.691T>G (p.Tyr231Asp)
c.667T>G (p.Tyr223Asp)
c.722T>G (p.Leu241Arg)
c.713T>G (p.Leu238Arg)
c.677T>G (p.Leu226Arg)
c.670T>G (p.Tyr224Asp)
c.725T>G (p.Leu242Arg)
c.716T>G (p.Leu239Arg)
c.668T>G (p.Leu223Arg)
c.647T>G (p.Leu216Arg)
c.635T>G (p.Leu212Arg)
n.708T>G
17g.74695829A>GCA400935168CD300LF,RAB37c.613T>C (p.Tyr205His)
c.659T>C (p.Leu220Pro)
c.72+24171A>G (n.72+24171A>G)
c.509T>C (p.Leu170Pro)
c.644T>C (p.Leu215Pro)
n.479+24171A>G
c.486T>C (p.Ala162=)
c.622T>C (p.Tyr208His)
c.658T>C (p.Tyr220His)
c.590T>C (p.Leu197Pro)
n.785T>C
c.745T>C (p.Tyr249His)
c.736T>C (p.Tyr246His)
c.700T>C (p.Tyr234His)
c.691T>C (p.Tyr231His)
c.667T>C (p.Tyr223His)
c.722T>C (p.Leu241Pro)
c.713T>C (p.Leu238Pro)
c.677T>C (p.Leu226Pro)
c.670T>C (p.Tyr224His)
c.725T>C (p.Leu242Pro)
c.716T>C (p.Leu239Pro)
c.668T>C (p.Leu223Pro)
c.647T>C (p.Leu216Pro)
c.635T>C (p.Leu212Pro)
n.708T>C
 dbSNP gnomAD v2 gnomAD v4
17g.74695829A>TCA400935169CD300LF,RAB37c.613T>A (p.Tyr205Asn)
c.659T>A (p.Leu220Gln)
c.72+24171A>T (n.72+24171A>T)
c.509T>A (p.Leu170Gln)
c.644T>A (p.Leu215Gln)
n.479+24171A>T
c.486T>A (p.Ala162=)
c.622T>A (p.Tyr208Asn)
c.658T>A (p.Tyr220Asn)
c.590T>A (p.Leu197Gln)
n.785T>A
c.745T>A (p.Tyr249Asn)
c.736T>A (p.Tyr246Asn)
c.700T>A (p.Tyr234Asn)
c.691T>A (p.Tyr231Asn)
c.667T>A (p.Tyr223Asn)
c.722T>A (p.Leu241Gln)
c.713T>A (p.Leu238Gln)
c.677T>A (p.Leu226Gln)
c.670T>A (p.Tyr224Asn)
c.725T>A (p.Leu242Gln)
c.716T>A (p.Leu239Gln)
c.668T>A (p.Leu223Gln)
c.647T>A (p.Leu216Gln)
c.635T>A (p.Leu212Gln)
n.708T>A
17g.74695830G>ACA501745348CD300LF,RAB37c.612C>T (p.Cys204=)
c.658C>T (p.Leu220=)
c.72+24172G>A (n.72+24172G>A)
c.508C>T (p.Leu170=)
c.643C>T (p.Leu215=)
n.479+24172G>A
c.485C>T (p.Ala162Val)
c.621C>T (p.Cys207=)
c.657C>T (p.Cys219=)
c.589C>T (p.Leu197=)
n.784C>T
c.744C>T (p.Cys248=)
c.735C>T (p.Cys245=)
c.699C>T (p.Cys233=)
c.690C>T (p.Cys230=)
c.666C>T (p.Cys222=)
c.721C>T (p.Leu241=)
c.712C>T (p.Leu238=)
c.676C>T (p.Leu226=)
c.669C>T (p.Cys223=)
c.724C>T (p.Leu242=)
c.715C>T (p.Leu239=)
c.667C>T (p.Leu223=)
c.646C>T (p.Leu216=)
c.634C>T (p.Leu212=)
n.707C>T
 dbSNP gnomAD v4
17g.74695830G>CCA400935170CD300LF,RAB37c.612C>G (p.Cys204Trp)
c.658C>G (p.Leu220Val)
c.72+24172G>C (n.72+24172G>C)
c.508C>G (p.Leu170Val)
c.643C>G (p.Leu215Val)
n.479+24172G>C
c.485C>G (p.Ala162Gly)
c.621C>G (p.Cys207Trp)
c.657C>G (p.Cys219Trp)
c.589C>G (p.Leu197Val)
n.784C>G
c.744C>G (p.Cys248Trp)
c.735C>G (p.Cys245Trp)
c.699C>G (p.Cys233Trp)
c.690C>G (p.Cys230Trp)
c.666C>G (p.Cys222Trp)
c.721C>G (p.Leu241Val)
c.712C>G (p.Leu238Val)
c.676C>G (p.Leu226Val)
c.669C>G (p.Cys223Trp)
c.724C>G (p.Leu242Val)
c.715C>G (p.Leu239Val)
c.667C>G (p.Leu223Val)
c.646C>G (p.Leu216Val)
c.634C>G (p.Leu212Val)
n.707C>G
17g.74695830G=CA2275147039CD300LF,RAB37c.612C= (p.Cys204=)
c.658C= (p.Leu220=)
c.72+24172G= (n.72+24172G=)
c.508C= (p.Leu170=)
c.643C= (p.Leu215=)
n.479+24172G=
c.485C= (p.Ala162=)
c.621C= (p.Cys207=)
c.657C= (p.Cys219=)
c.589C= (p.Leu197=)
n.784C=
c.744C= (p.Cys248=)
c.735C= (p.Cys245=)
c.699C= (p.Cys233=)
c.690C= (p.Cys230=)
c.666C= (p.Cys222=)
c.721C= (p.Leu241=)
c.712C= (p.Leu238=)
c.676C= (p.Leu226=)
c.669C= (p.Cys223=)
c.724C= (p.Leu242=)
c.715C= (p.Leu239=)
c.667C= (p.Leu223=)
c.646C= (p.Leu216=)
c.634C= (p.Leu212=)
n.707C=
17g.74695830G>TCA400935171CD300LF,RAB37c.612C>A (p.Cys204Ter)
c.658C>A (p.Leu220Ile)
c.72+24172G>T (n.72+24172G>T)
c.508C>A (p.Leu170Ile)
c.643C>A (p.Leu215Ile)
n.479+24172G>T
c.485C>A (p.Ala162Asp)
c.621C>A (p.Cys207Ter)
c.657C>A (p.Cys219Ter)
c.589C>A (p.Leu197Ile)
n.784C>A
c.744C>A (p.Cys248Ter)
c.735C>A (p.Cys245Ter)
c.699C>A (p.Cys233Ter)
c.690C>A (p.Cys230Ter)
c.666C>A (p.Cys222Ter)
c.721C>A (p.Leu241Ile)
c.712C>A (p.Leu238Ile)
c.676C>A (p.Leu226Ile)
c.669C>A (p.Cys223Ter)
c.724C>A (p.Leu242Ile)
c.715C>A (p.Leu239Ile)
c.667C>A (p.Leu223Ile)
c.646C>A (p.Leu216Ile)
c.634C>A (p.Leu212Ile)
n.707C>A
 gnomAD v4
17g.74695831C>ACA400935172CD300LF,RAB37c.611G>T (p.Cys204Phe)
c.657G>T (p.Leu219=)
c.72+24173C>A (n.72+24173C>A)
c.507G>T (p.Leu169=)
c.642G>T (p.Leu214=)
n.479+24173C>A
c.484G>T (p.Ala162Ser)
c.620G>T (p.Cys207Phe)
c.656G>T (p.Cys219Phe)
c.588G>T (p.Leu196=)
n.783G>T
c.743G>T (p.Cys248Phe)
c.734G>T (p.Cys245Phe)
c.698G>T (p.Cys233Phe)
c.689G>T (p.Cys230Phe)
c.665G>T (p.Cys222Phe)
c.720G>T (p.Leu240=)
c.711G>T (p.Leu237=)
c.675G>T (p.Leu225=)
c.668G>T (p.Cys223Phe)
c.723G>T (p.Leu241=)
c.714G>T (p.Leu238=)
c.666G>T (p.Leu222=)
c.645G>T (p.Leu215=)
c.633G>T (p.Leu211=)
n.706G>T
17g.74695831C>GCA400935173CD300LF,RAB37c.611G>C (p.Cys204Ser)
c.657G>C (p.Leu219=)
c.72+24173C>G (n.72+24173C>G)
c.507G>C (p.Leu169=)
c.642G>C (p.Leu214=)
n.479+24173C>G
c.484G>C (p.Ala162Pro)
c.620G>C (p.Cys207Ser)
c.656G>C (p.Cys219Ser)
c.588G>C (p.Leu196=)
n.783G>C
c.743G>C (p.Cys248Ser)
c.734G>C (p.Cys245Ser)
c.698G>C (p.Cys233Ser)
c.689G>C (p.Cys230Ser)
c.665G>C (p.Cys222Ser)
c.720G>C (p.Leu240=)
c.711G>C (p.Leu237=)
c.675G>C (p.Leu225=)
c.668G>C (p.Cys223Ser)
c.723G>C (p.Leu241=)
c.714G>C (p.Leu238=)
c.666G>C (p.Leu222=)
c.645G>C (p.Leu215=)
c.633G>C (p.Leu211=)
n.706G>C
17g.74695831C>TCA400935174CD300LF,RAB37c.611G>A (p.Cys204Tyr)
c.657G>A (p.Leu219=)
c.72+24173C>T (n.72+24173C>T)
c.507G>A (p.Leu169=)
c.642G>A (p.Leu214=)
n.479+24173C>T
c.484G>A (p.Ala162Thr)
c.620G>A (p.Cys207Tyr)
c.656G>A (p.Cys219Tyr)
c.588G>A (p.Leu196=)
n.783G>A
c.743G>A (p.Cys248Tyr)
c.734G>A (p.Cys245Tyr)
c.698G>A (p.Cys233Tyr)
c.689G>A (p.Cys230Tyr)
c.665G>A (p.Cys222Tyr)
c.720G>A (p.Leu240=)
c.711G>A (p.Leu237=)
c.675G>A (p.Leu225=)
c.668G>A (p.Cys223Tyr)
c.723G>A (p.Leu241=)
c.714G>A (p.Leu238=)
c.666G>A (p.Leu222=)
c.645G>A (p.Leu215=)
c.633G>A (p.Leu211=)
n.706G>A
17g.74695832A=CA2275147040CD300LF,RAB37c.610T= (p.Cys204=)
c.656T= (p.Leu219=)
c.72+24174A= (n.72+24174A=)
c.506T= (p.Leu169=)
c.641T= (p.Leu214=)
n.479+24174A=
c.483T= (p.Ser161=)
c.619T= (p.Cys207=)
c.655T= (p.Cys219=)
c.587T= (p.Leu196=)
n.782T=
c.742T= (p.Cys248=)
c.733T= (p.Cys245=)
c.697T= (p.Cys233=)
c.688T= (p.Cys230=)
c.664T= (p.Cys222=)
c.719T= (p.Leu240=)
c.710T= (p.Leu237=)
c.674T= (p.Leu225=)
c.667T= (p.Cys223=)
c.722T= (p.Leu241=)
c.713T= (p.Leu238=)
c.665T= (p.Leu222=)
c.644T= (p.Leu215=)
c.632T= (p.Leu211=)
n.705T=
17g.74695832A>CCA400935175CD300LF,RAB37c.610T>G (p.Cys204Gly)
c.656T>G (p.Leu219Arg)
c.72+24174A>C (n.72+24174A>C)
c.506T>G (p.Leu169Arg)
c.641T>G (p.Leu214Arg)
n.479+24174A>C
c.483T>G (p.Ser161=)
c.619T>G (p.Cys207Gly)
c.655T>G (p.Cys219Gly)
c.587T>G (p.Leu196Arg)
n.782T>G
c.742T>G (p.Cys248Gly)
c.733T>G (p.Cys245Gly)
c.697T>G (p.Cys233Gly)
c.688T>G (p.Cys230Gly)
c.664T>G (p.Cys222Gly)
c.719T>G (p.Leu240Arg)
c.710T>G (p.Leu237Arg)
c.674T>G (p.Leu225Arg)
c.667T>G (p.Cys223Gly)
c.722T>G (p.Leu241Arg)
c.713T>G (p.Leu238Arg)
c.665T>G (p.Leu222Arg)
c.644T>G (p.Leu215Arg)
c.632T>G (p.Leu211Arg)
n.705T>G
17g.74695832A>GCA400935176CD300LF,RAB37c.610T>C (p.Cys204Arg)
c.656T>C (p.Leu219Pro)
c.72+24174A>G (n.72+24174A>G)
c.506T>C (p.Leu169Pro)
c.641T>C (p.Leu214Pro)
n.479+24174A>G
c.483T>C (p.Ser161=)
c.619T>C (p.Cys207Arg)
c.655T>C (p.Cys219Arg)
c.587T>C (p.Leu196Pro)
n.782T>C
c.742T>C (p.Cys248Arg)
c.733T>C (p.Cys245Arg)
c.697T>C (p.Cys233Arg)
c.688T>C (p.Cys230Arg)
c.664T>C (p.Cys222Arg)
c.719T>C (p.Leu240Pro)
c.710T>C (p.Leu237Pro)
c.674T>C (p.Leu225Pro)
c.667T>C (p.Cys223Arg)
c.722T>C (p.Leu241Pro)
c.713T>C (p.Leu238Pro)
c.665T>C (p.Leu222Pro)
c.644T>C (p.Leu215Pro)
c.632T>C (p.Leu211Pro)
n.705T>C
 dbSNP
17g.74695832A>TCA400935177CD300LF,RAB37c.610T>A (p.Cys204Ser)
c.656T>A (p.Leu219Gln)
c.72+24174A>T (n.72+24174A>T)
c.506T>A (p.Leu169Gln)
c.641T>A (p.Leu214Gln)
n.479+24174A>T
c.483T>A (p.Ser161=)
c.619T>A (p.Cys207Ser)
c.655T>A (p.Cys219Ser)
c.587T>A (p.Leu196Gln)
n.782T>A
c.742T>A (p.Cys248Ser)
c.733T>A (p.Cys245Ser)
c.697T>A (p.Cys233Ser)
c.688T>A (p.Cys230Ser)
c.664T>A (p.Cys222Ser)
c.719T>A (p.Leu240Gln)
c.710T>A (p.Leu237Gln)
c.674T>A (p.Leu225Gln)
c.667T>A (p.Cys223Ser)
c.722T>A (p.Leu241Gln)
c.713T>A (p.Leu238Gln)
c.665T>A (p.Leu222Gln)
c.644T>A (p.Leu215Gln)
c.632T>A (p.Leu211Gln)
n.705T>A
 gnomAD v4
17g.74695833G>ACA501745349CD300LF,RAB37c.609C>T (p.Leu203=)
c.655C>T (p.Leu219=)
c.72+24175G>A (n.72+24175G>A)
c.505C>T (p.Leu169=)
c.640C>T (p.Leu214=)
n.479+24175G>A
c.482C>T (p.Ser161Phe)
c.618C>T (p.Leu206=)
c.654C>T (p.Leu218=)
c.586C>T (p.Leu196=)
n.781C>T
c.741C>T (p.Leu247=)
c.732C>T (p.Leu244=)
c.696C>T (p.Leu232=)
c.687C>T (p.Leu229=)
c.663C>T (p.Leu221=)
c.718C>T (p.Leu240=)
c.709C>T (p.Leu237=)
c.673C>T (p.Leu225=)
c.666C>T (p.Leu222=)
c.721C>T (p.Leu241=)
c.712C>T (p.Leu238=)
c.664C>T (p.Leu222=)
c.643C>T (p.Leu215=)
c.631C>T (p.Leu211=)
n.704C>T
17g.74695833G>CCA400935179CD300LF,RAB37c.609C>G (p.Leu203=)
c.655C>G (p.Leu219Val)
c.72+24175G>C (n.72+24175G>C)
c.505C>G (p.Leu169Val)
c.640C>G (p.Leu214Val)
n.479+24175G>C
c.482C>G (p.Ser161Cys)
c.618C>G (p.Leu206=)
c.654C>G (p.Leu218=)
c.586C>G (p.Leu196Val)
n.781C>G
c.741C>G (p.Leu247=)
c.732C>G (p.Leu244=)
c.696C>G (p.Leu232=)
c.687C>G (p.Leu229=)
c.663C>G (p.Leu221=)
c.718C>G (p.Leu240Val)
c.709C>G (p.Leu237Val)
c.673C>G (p.Leu225Val)
c.666C>G (p.Leu222=)
c.721C>G (p.Leu241Val)
c.712C>G (p.Leu238Val)
c.664C>G (p.Leu222Val)
c.643C>G (p.Leu215Val)
c.631C>G (p.Leu211Val)
n.704C>G
17g.74695833G>TCA400935178CD300LF,RAB37c.609C>A (p.Leu203=)
c.655C>A (p.Leu219Met)
c.72+24175G>T (n.72+24175G>T)
c.505C>A (p.Leu169Met)
c.640C>A (p.Leu214Met)
n.479+24175G>T
c.482C>A (p.Ser161Tyr)
c.618C>A (p.Leu206=)
c.654C>A (p.Leu218=)
c.586C>A (p.Leu196Met)
n.781C>A
c.741C>A (p.Leu247=)
c.732C>A (p.Leu244=)
c.696C>A (p.Leu232=)
c.687C>A (p.Leu229=)
c.663C>A (p.Leu221=)
c.718C>A (p.Leu240Met)
c.709C>A (p.Leu237Met)
c.673C>A (p.Leu225Met)
c.666C>A (p.Leu222=)
c.721C>A (p.Leu241Met)
c.712C>A (p.Leu238Met)
c.664C>A (p.Leu222Met)
c.643C>A (p.Leu215Met)
c.631C>A (p.Leu211Met)
n.704C>A
17g.74695834A>CCA400935180CD300LF,RAB37c.608T>G (p.Leu203Arg)
c.654T>G (p.Pro218=)
c.72+24176A>C (n.72+24176A>C)
c.504T>G (p.Pro168=)
c.639T>G (p.Pro213=)
n.479+24176A>C
c.481T>G (p.Ser161Ala)
c.617T>G (p.Leu206Arg)
c.653T>G (p.Leu218Arg)
c.585T>G (p.Pro195=)
n.780T>G
c.740T>G (p.Leu247Arg)
c.731T>G (p.Leu244Arg)
c.695T>G (p.Leu232Arg)
c.686T>G (p.Leu229Arg)
c.662T>G (p.Leu221Arg)
c.717T>G (p.Pro239=)
c.708T>G (p.Pro236=)
c.672T>G (p.Pro224=)
c.665T>G (p.Leu222Arg)
c.720T>G (p.Pro240=)
c.711T>G (p.Pro237=)
c.663T>G (p.Pro221=)
c.642T>G (p.Pro214=)
c.630T>G (p.Pro210=)
n.703T>G
17g.74695834A>GCA400935182CD300LF,RAB37c.608T>C (p.Leu203Pro)
c.654T>C (p.Pro218=)
c.72+24176A>G (n.72+24176A>G)
c.504T>C (p.Pro168=)
c.639T>C (p.Pro213=)
n.479+24176A>G
c.481T>C (p.Ser161Pro)
c.617T>C (p.Leu206Pro)
c.653T>C (p.Leu218Pro)
c.585T>C (p.Pro195=)
n.780T>C
c.740T>C (p.Leu247Pro)
c.731T>C (p.Leu244Pro)
c.695T>C (p.Leu232Pro)
c.686T>C (p.Leu229Pro)
c.662T>C (p.Leu221Pro)
c.717T>C (p.Pro239=)
c.708T>C (p.Pro236=)
c.672T>C (p.Pro224=)
c.665T>C (p.Leu222Pro)
c.720T>C (p.Pro240=)
c.711T>C (p.Pro237=)
c.663T>C (p.Pro221=)
c.642T>C (p.Pro214=)
c.630T>C (p.Pro210=)
n.703T>C
17g.74695834A>TCA400935181CD300LF,RAB37c.608T>A (p.Leu203His)
c.654T>A (p.Pro218=)
c.72+24176A>T (n.72+24176A>T)
c.504T>A (p.Pro168=)
c.639T>A (p.Pro213=)
n.479+24176A>T
c.481T>A (p.Ser161Thr)
c.617T>A (p.Leu206His)
c.653T>A (p.Leu218His)
c.585T>A (p.Pro195=)
n.780T>A
c.740T>A (p.Leu247His)
c.731T>A (p.Leu244His)
c.695T>A (p.Leu232His)
c.686T>A (p.Leu229His)
c.662T>A (p.Leu221His)
c.717T>A (p.Pro239=)
c.708T>A (p.Pro236=)
c.672T>A (p.Pro224=)
c.665T>A (p.Leu222His)
c.720T>A (p.Pro240=)
c.711T>A (p.Pro237=)
c.663T>A (p.Pro221=)
c.642T>A (p.Pro214=)
c.630T>A (p.Pro210=)
n.703T>A
17g.74695835G>ACA400935183CD300LF,RAB37c.607C>T (p.Leu203Phe)
c.653C>T (p.Pro218Leu)
c.72+24177G>A (n.72+24177G>A)
c.503C>T (p.Pro168Leu)
c.638C>T (p.Pro213Leu)
n.479+24177G>A
c.480C>T (p.Thr160=)
c.616C>T (p.Leu206Phe)
c.652C>T (p.Leu218Phe)
c.584C>T (p.Pro195Leu)
n.779C>T
c.739C>T (p.Leu247Phe)
c.730C>T (p.Leu244Phe)
c.694C>T (p.Leu232Phe)
c.685C>T (p.Leu229Phe)
c.661C>T (p.Leu221Phe)
c.716C>T (p.Pro239Leu)
c.707C>T (p.Pro236Leu)
c.671C>T (p.Pro224Leu)
c.664C>T (p.Leu222Phe)
c.719C>T (p.Pro240Leu)
c.710C>T (p.Pro237Leu)
c.662C>T (p.Pro221Leu)
c.641C>T (p.Pro214Leu)
c.629C>T (p.Pro210Leu)
n.702C>T
17g.74695835G>CCA400935184CD300LF,RAB37c.607C>G (p.Leu203Val)
c.653C>G (p.Pro218Arg)
c.72+24177G>C (n.72+24177G>C)
c.503C>G (p.Pro168Arg)
c.638C>G (p.Pro213Arg)
n.479+24177G>C
c.480C>G (p.Thr160=)
c.616C>G (p.Leu206Val)
c.652C>G (p.Leu218Val)
c.584C>G (p.Pro195Arg)
n.779C>G
c.739C>G (p.Leu247Val)
c.730C>G (p.Leu244Val)
c.694C>G (p.Leu232Val)
c.685C>G (p.Leu229Val)
c.661C>G (p.Leu221Val)
c.716C>G (p.Pro239Arg)
c.707C>G (p.Pro236Arg)
c.671C>G (p.Pro224Arg)
c.664C>G (p.Leu222Val)
c.719C>G (p.Pro240Arg)
c.710C>G (p.Pro237Arg)
c.662C>G (p.Pro221Arg)
c.641C>G (p.Pro214Arg)
c.629C>G (p.Pro210Arg)
n.702C>G
17g.74695835G=CA2275147041CD300LF,RAB37c.607C= (p.Leu203=)
c.653C= (p.Pro218=)
c.72+24177G= (n.72+24177G=)
c.503C= (p.Pro168=)
c.638C= (p.Pro213=)
n.479+24177G=
c.480C= (p.Thr160=)
c.616C= (p.Leu206=)
c.652C= (p.Leu218=)
c.584C= (p.Pro195=)
n.779C=
c.739C= (p.Leu247=)
c.730C= (p.Leu244=)
c.694C= (p.Leu232=)
c.685C= (p.Leu229=)
c.661C= (p.Leu221=)
c.716C= (p.Pro239=)
c.707C= (p.Pro236=)
c.671C= (p.Pro224=)
c.664C= (p.Leu222=)
c.719C= (p.Pro240=)
c.710C= (p.Pro237=)
c.662C= (p.Pro221=)
c.641C= (p.Pro214=)
c.629C= (p.Pro210=)
n.702C=
17g.74695835G>TCA8749773CD300LF,RAB37c.607C>A (p.Leu203Ile)
c.653C>A (p.Pro218His)
c.72+24177G>T (n.72+24177G>T)
c.503C>A (p.Pro168His)
c.638C>A (p.Pro213His)
n.479+24177G>T
c.480C>A (p.Thr160=)
c.616C>A (p.Leu206Ile)
c.652C>A (p.Leu218Ile)
c.584C>A (p.Pro195His)
n.779C>A
c.739C>A (p.Leu247Ile)
c.730C>A (p.Leu244Ile)
c.694C>A (p.Leu232Ile)
c.685C>A (p.Leu229Ile)
c.661C>A (p.Leu221Ile)
c.716C>A (p.Pro239His)
c.707C>A (p.Pro236His)
c.671C>A (p.Pro224His)
c.664C>A (p.Leu222Ile)
c.719C>A (p.Pro240His)
c.710C>A (p.Pro237His)
c.662C>A (p.Pro221His)
c.641C>A (p.Pro214His)
c.629C>A (p.Pro210His)
n.702C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.74695836G>ACA400935185CD300LF,RAB37c.606C>T (p.Asp202=)
c.652C>T (p.Pro218Ser)
c.72+24178G>A (n.72+24178G>A)
c.502C>T (p.Pro168Ser)
c.637C>T (p.Pro213Ser)
n.479+24178G>A
c.479C>T (p.Thr160Ile)
c.615C>T (p.Asp205=)
c.651C>T (p.Asp217=)
c.583C>T (p.Pro195Ser)
n.778C>T
c.738C>T (p.Asp246=)
c.729C>T (p.Asp243=)
c.693C>T (p.Asp231=)
c.684C>T (p.Asp228=)
c.660C>T (p.Asp220=)
c.715C>T (p.Pro239Ser)
c.706C>T (p.Pro236Ser)
c.670C>T (p.Pro224Ser)
c.663C>T (p.Asp221=)
c.718C>T (p.Pro240Ser)
c.709C>T (p.Pro237Ser)
c.661C>T (p.Pro221Ser)
c.640C>T (p.Pro214Ser)
c.628C>T (p.Pro210Ser)
n.701C>T
17g.74695836G>CCA400935186CD300LF,RAB37c.606C>G (p.Asp202Glu)
c.652C>G (p.Pro218Ala)
c.72+24178G>C (n.72+24178G>C)
c.502C>G (p.Pro168Ala)
c.637C>G (p.Pro213Ala)
n.479+24178G>C
c.479C>G (p.Thr160Ser)
c.615C>G (p.Asp205Glu)
c.651C>G (p.Asp217Glu)
c.583C>G (p.Pro195Ala)
n.778C>G
c.738C>G (p.Asp246Glu)
c.729C>G (p.Asp243Glu)
c.693C>G (p.Asp231Glu)
c.684C>G (p.Asp228Glu)
c.660C>G (p.Asp220Glu)
c.715C>G (p.Pro239Ala)
c.706C>G (p.Pro236Ala)
c.670C>G (p.Pro224Ala)
c.663C>G (p.Asp221Glu)
c.718C>G (p.Pro240Ala)
c.709C>G (p.Pro237Ala)
c.661C>G (p.Pro221Ala)
c.640C>G (p.Pro214Ala)
c.628C>G (p.Pro210Ala)
n.701C>G
17g.74695836G=CA2275147042CD300LF,RAB37c.606C= (p.Asp202=)
c.652C= (p.Pro218=)
c.72+24178G= (n.72+24178G=)
c.502C= (p.Pro168=)
c.637C= (p.Pro213=)
n.479+24178G=
c.479C= (p.Thr160=)
c.615C= (p.Asp205=)
c.651C= (p.Asp217=)
c.583C= (p.Pro195=)
n.778C=
c.738C= (p.Asp246=)
c.729C= (p.Asp243=)
c.693C= (p.Asp231=)
c.684C= (p.Asp228=)
c.660C= (p.Asp220=)
c.715C= (p.Pro239=)
c.706C= (p.Pro236=)
c.670C= (p.Pro224=)
c.663C= (p.Asp221=)
c.718C= (p.Pro240=)
c.709C= (p.Pro237=)
c.661C= (p.Pro221=)
c.640C= (p.Pro214=)
c.628C= (p.Pro210=)
n.701C=
17g.74695836G>TCA400935187CD300LF,RAB37c.606C>A (p.Asp202Glu)
c.652C>A (p.Pro218Thr)
c.72+24178G>T (n.72+24178G>T)
c.502C>A (p.Pro168Thr)
c.637C>A (p.Pro213Thr)
n.479+24178G>T
c.479C>A (p.Thr160Asn)
c.615C>A (p.Asp205Glu)
c.651C>A (p.Asp217Glu)
c.583C>A (p.Pro195Thr)
n.778C>A
c.738C>A (p.Asp246Glu)
c.729C>A (p.Asp243Glu)
c.693C>A (p.Asp231Glu)
c.684C>A (p.Asp228Glu)
c.660C>A (p.Asp220Glu)
c.715C>A (p.Pro239Thr)
c.706C>A (p.Pro236Thr)
c.670C>A (p.Pro224Thr)
c.663C>A (p.Asp221Glu)
c.718C>A (p.Pro240Thr)
c.709C>A (p.Pro237Thr)
c.661C>A (p.Pro221Thr)
c.640C>A (p.Pro214Thr)
c.628C>A (p.Pro210Thr)
n.701C>A
 dbSNP
17g.74695837T>ACA400935188CD300LF,RAB37c.605A>T (p.Asp202Val)
c.651A>T (p.Arg217=)
c.72+24179T>A (n.72+24179T>A)
c.501A>T (p.Arg167=)
c.636A>T (p.Arg212=)
n.479+24179T>A
c.478A>T (p.Thr160Ser)
c.614A>T (p.Asp205Val)
c.650A>T (p.Asp217Val)
c.582A>T (p.Arg194=)
n.777A>T
c.737A>T (p.Asp246Val)
c.728A>T (p.Asp243Val)
c.692A>T (p.Asp231Val)
c.683A>T (p.Asp228Val)
c.659A>T (p.Asp220Val)
c.714A>T (p.Arg238=)
c.705A>T (p.Arg235=)
c.669A>T (p.Arg223=)
c.662A>T (p.Asp221Val)
c.717A>T (p.Arg239=)
c.708A>T (p.Arg236=)
c.660A>T (p.Arg220=)
c.639A>T (p.Arg213=)
c.627A>T (p.Arg209=)
n.700A>T
17g.74695837T>CCA400935189CD300LF,RAB37c.605A>G (p.Asp202Gly)
c.651A>G (p.Arg217=)
c.72+24179T>C (n.72+24179T>C)
c.501A>G (p.Arg167=)
c.636A>G (p.Arg212=)
n.479+24179T>C
c.478A>G (p.Thr160Ala)
c.614A>G (p.Asp205Gly)
c.650A>G (p.Asp217Gly)
c.582A>G (p.Arg194=)
n.777A>G
c.737A>G (p.Asp246Gly)
c.728A>G (p.Asp243Gly)
c.692A>G (p.Asp231Gly)
c.683A>G (p.Asp228Gly)
c.659A>G (p.Asp220Gly)
c.714A>G (p.Arg238=)
c.705A>G (p.Arg235=)
c.669A>G (p.Arg223=)
c.662A>G (p.Asp221Gly)
c.717A>G (p.Arg239=)
c.708A>G (p.Arg236=)
c.660A>G (p.Arg220=)
c.639A>G (p.Arg213=)
c.627A>G (p.Arg209=)
n.700A>G
17g.74695837T>GCA400935190CD300LF,RAB37c.605A>C (p.Asp202Ala)
c.651A>C (p.Arg217=)
c.72+24179T>G (n.72+24179T>G)
c.501A>C (p.Arg167=)
c.636A>C (p.Arg212=)
n.479+24179T>G
c.478A>C (p.Thr160Pro)
c.614A>C (p.Asp205Ala)
c.650A>C (p.Asp217Ala)
c.582A>C (p.Arg194=)
n.777A>C
c.737A>C (p.Asp246Ala)
c.728A>C (p.Asp243Ala)
c.692A>C (p.Asp231Ala)
c.683A>C (p.Asp228Ala)
c.659A>C (p.Asp220Ala)
c.714A>C (p.Arg238=)
c.705A>C (p.Arg235=)
c.669A>C (p.Arg223=)
c.662A>C (p.Asp221Ala)
c.717A>C (p.Arg239=)
c.708A>C (p.Arg236=)
c.660A>C (p.Arg220=)
c.639A>C (p.Arg213=)
c.627A>C (p.Arg209=)
n.700A>C
17g.74695838C>ACA400935191CD300LF,RAB37c.604G>T (p.Asp202Tyr)
c.650G>T (p.Arg217Leu)
c.72+24180C>A (n.72+24180C>A)
c.500G>T (p.Arg167Leu)
c.635G>T (p.Arg212Leu)
n.479+24180C>A
c.477G>T (p.Ala159=)
c.613G>T (p.Asp205Tyr)
c.649G>T (p.Asp217Tyr)
c.581G>T (p.Arg194Leu)
n.776G>T
c.736G>T (p.Asp246Tyr)
c.727G>T (p.Asp243Tyr)
c.691G>T (p.Asp231Tyr)
c.682G>T (p.Asp228Tyr)
c.658G>T (p.Asp220Tyr)
c.713G>T (p.Arg238Leu)
c.704G>T (p.Arg235Leu)
c.668G>T (p.Arg223Leu)
c.661G>T (p.Asp221Tyr)
c.716G>T (p.Arg239Leu)
c.707G>T (p.Arg236Leu)
c.659G>T (p.Arg220Leu)
c.638G>T (p.Arg213Leu)
c.626G>T (p.Arg209Leu)
n.699G>T
17g.74695838C=CA2275147043CD300LF,RAB37c.604G= (p.Asp202=)
c.650G= (p.Arg217=)
c.72+24180C= (n.72+24180C=)
c.500G= (p.Arg167=)
c.635G= (p.Arg212=)
n.479+24180C=
c.477G= (p.Ala159=)
c.613G= (p.Asp205=)
c.649G= (p.Asp217=)
c.581G= (p.Arg194=)
n.776G=
c.736G= (p.Asp246=)
c.727G= (p.Asp243=)
c.691G= (p.Asp231=)
c.682G= (p.Asp228=)
c.658G= (p.Asp220=)
c.713G= (p.Arg238=)
c.704G= (p.Arg235=)
c.668G= (p.Arg223=)
c.661G= (p.Asp221=)
c.716G= (p.Arg239=)
c.707G= (p.Arg236=)
c.659G= (p.Arg220=)
c.638G= (p.Arg213=)
c.626G= (p.Arg209=)
n.699G=
17g.74695838C>GCA400935192CD300LF,RAB37c.604G>C (p.Asp202His)
c.650G>C (p.Arg217Pro)
c.72+24180C>G (n.72+24180C>G)
c.500G>C (p.Arg167Pro)
c.635G>C (p.Arg212Pro)
n.479+24180C>G
c.477G>C (p.Ala159=)
c.613G>C (p.Asp205His)
c.649G>C (p.Asp217His)
c.581G>C (p.Arg194Pro)
n.776G>C
c.736G>C (p.Asp246His)
c.727G>C (p.Asp243His)
c.691G>C (p.Asp231His)
c.682G>C (p.Asp228His)
c.658G>C (p.Asp220His)
c.713G>C (p.Arg238Pro)
c.704G>C (p.Arg235Pro)
c.668G>C (p.Arg223Pro)
c.661G>C (p.Asp221His)
c.716G>C (p.Arg239Pro)
c.707G>C (p.Arg236Pro)
c.659G>C (p.Arg220Pro)
c.638G>C (p.Arg213Pro)
c.626G>C (p.Arg209Pro)
n.699G>C
 dbSNP
17g.74695838C>TCA8749774CD300LF,RAB37c.604G>A (p.Asp202Asn)
c.650G>A (p.Arg217Gln)
c.72+24180C>T (n.72+24180C>T)
c.500G>A (p.Arg167Gln)
c.635G>A (p.Arg212Gln)
n.479+24180C>T
c.477G>A (p.Ala159=)
c.613G>A (p.Asp205Asn)
c.649G>A (p.Asp217Asn)
c.581G>A (p.Arg194Gln)
n.776G>A
c.736G>A (p.Asp246Asn)
c.727G>A (p.Asp243Asn)
c.691G>A (p.Asp231Asn)
c.682G>A (p.Asp228Asn)
c.658G>A (p.Asp220Asn)
c.713G>A (p.Arg238Gln)
c.704G>A (p.Arg235Gln)
c.668G>A (p.Arg223Gln)
c.661G>A (p.Asp221Asn)
c.716G>A (p.Arg239Gln)
c.707G>A (p.Arg236Gln)
c.659G>A (p.Arg220Gln)
c.638G>A (p.Arg213Gln)
c.626G>A (p.Arg209Gln)
n.699G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695839G>ACA8749775CD300LF,RAB37c.603C>T (p.Gly201=)
c.649C>T (p.Arg217Ter)
c.72+24181G>A (n.72+24181G>A)
c.499C>T (p.Arg167Ter)
c.634C>T (p.Arg212Ter)
n.479+24181G>A
c.476C>T (p.Ala159Val)
c.612C>T (p.Gly204=)
c.648C>T (p.Gly216=)
c.580C>T (p.Arg194Ter)
n.775C>T
c.735C>T (p.Gly245=)
c.726C>T (p.Gly242=)
c.690C>T (p.Gly230=)
c.681C>T (p.Gly227=)
c.657C>T (p.Gly219=)
c.712C>T (p.Arg238Ter)
c.703C>T (p.Arg235Ter)
c.667C>T (p.Arg223Ter)
c.660C>T (p.Gly220=)
c.715C>T (p.Arg239Ter)
c.706C>T (p.Arg236Ter)
c.658C>T (p.Arg220Ter)
c.637C>T (p.Arg213Ter)
c.625C>T (p.Arg209Ter)
n.698C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695839G>CCA400935193CD300LF,RAB37c.603C>G (p.Gly201=)
c.649C>G (p.Arg217Gly)
c.72+24181G>C (n.72+24181G>C)
c.499C>G (p.Arg167Gly)
c.634C>G (p.Arg212Gly)
n.479+24181G>C
c.476C>G (p.Ala159Gly)
c.612C>G (p.Gly204=)
c.648C>G (p.Gly216=)
c.580C>G (p.Arg194Gly)
n.775C>G
c.735C>G (p.Gly245=)
c.726C>G (p.Gly242=)
c.690C>G (p.Gly230=)
c.681C>G (p.Gly227=)
c.657C>G (p.Gly219=)
c.712C>G (p.Arg238Gly)
c.703C>G (p.Arg235Gly)
c.667C>G (p.Arg223Gly)
c.660C>G (p.Gly220=)
c.715C>G (p.Arg239Gly)
c.706C>G (p.Arg236Gly)
c.658C>G (p.Arg220Gly)
c.637C>G (p.Arg213Gly)
c.625C>G (p.Arg209Gly)
n.698C>G
17g.74695839G=CA2275147044CD300LF,RAB37c.603C= (p.Gly201=)
c.649C= (p.Arg217=)
c.72+24181G= (n.72+24181G=)
c.499C= (p.Arg167=)
c.634C= (p.Arg212=)
n.479+24181G=
c.476C= (p.Ala159=)
c.612C= (p.Gly204=)
c.648C= (p.Gly216=)
c.580C= (p.Arg194=)
n.775C=
c.735C= (p.Gly245=)
c.726C= (p.Gly242=)
c.690C= (p.Gly230=)
c.681C= (p.Gly227=)
c.657C= (p.Gly219=)
c.712C= (p.Arg238=)
c.703C= (p.Arg235=)
c.667C= (p.Arg223=)
c.660C= (p.Gly220=)
c.715C= (p.Arg239=)
c.706C= (p.Arg236=)
c.658C= (p.Arg220=)
c.637C= (p.Arg213=)
c.625C= (p.Arg209=)
n.698C=
17g.74695839G>TCA501745350CD300LF,RAB37c.603C>A (p.Gly201=)
c.649C>A (p.Arg217=)
c.72+24181G>T (n.72+24181G>T)
c.499C>A (p.Arg167=)
c.634C>A (p.Arg212=)
n.479+24181G>T
c.476C>A (p.Ala159Glu)
c.612C>A (p.Gly204=)
c.648C>A (p.Gly216=)
c.580C>A (p.Arg194=)
n.775C>A
c.735C>A (p.Gly245=)
c.726C>A (p.Gly242=)
c.690C>A (p.Gly230=)
c.681C>A (p.Gly227=)
c.657C>A (p.Gly219=)
c.712C>A (p.Arg238=)
c.703C>A (p.Arg235=)
c.667C>A (p.Arg223=)
c.660C>A (p.Gly220=)
c.715C>A (p.Arg239=)
c.706C>A (p.Arg236=)
c.658C>A (p.Arg220=)
c.637C>A (p.Arg213=)
c.625C>A (p.Arg209=)
n.698C>A
17g.74695840C>ACA400935194CD300LF,RAB37c.602G>T (p.Gly201Val)
c.648G>T (p.Gly216=)
c.72+24182C>A (n.72+24182C>A)
c.498G>T (p.Gly166=)
c.633G>T (p.Gly211=)
n.479+24182C>A
c.475G>T (p.Ala159Ser)
c.611G>T (p.Gly204Val)
c.647G>T (p.Gly216Val)
c.579G>T (p.Gly193=)
n.774G>T
c.734G>T (p.Gly245Val)
c.725G>T (p.Gly242Val)
c.689G>T (p.Gly230Val)
c.680G>T (p.Gly227Val)
c.656G>T (p.Gly219Val)
c.711G>T (p.Gly237=)
c.702G>T (p.Gly234=)
c.666G>T (p.Gly222=)
c.659G>T (p.Gly220Val)
c.714G>T (p.Gly238=)
c.705G>T (p.Gly235=)
c.657G>T (p.Gly219=)
c.636G>T (p.Gly212=)
c.624G>T (p.Gly208=)
n.697G>T
17g.74695840C>GCA400935195CD300LF,RAB37c.602G>C (p.Gly201Ala)
c.648G>C (p.Gly216=)
c.72+24182C>G (n.72+24182C>G)
c.498G>C (p.Gly166=)
c.633G>C (p.Gly211=)
n.479+24182C>G
c.475G>C (p.Ala159Pro)
c.611G>C (p.Gly204Ala)
c.647G>C (p.Gly216Ala)
c.579G>C (p.Gly193=)
n.774G>C
c.734G>C (p.Gly245Ala)
c.725G>C (p.Gly242Ala)
c.689G>C (p.Gly230Ala)
c.680G>C (p.Gly227Ala)
c.656G>C (p.Gly219Ala)
c.711G>C (p.Gly237=)
c.702G>C (p.Gly234=)
c.666G>C (p.Gly222=)
c.659G>C (p.Gly220Ala)
c.714G>C (p.Gly238=)
c.705G>C (p.Gly235=)
c.657G>C (p.Gly219=)
c.636G>C (p.Gly212=)
c.624G>C (p.Gly208=)
n.697G>C
17g.74695840C>TCA400935196CD300LF,RAB37c.602G>A (p.Gly201Asp)
c.648G>A (p.Gly216=)
c.72+24182C>T (n.72+24182C>T)
c.498G>A (p.Gly166=)
c.633G>A (p.Gly211=)
n.479+24182C>T
c.475G>A (p.Ala159Thr)
c.611G>A (p.Gly204Asp)
c.647G>A (p.Gly216Asp)
c.579G>A (p.Gly193=)
n.774G>A
c.734G>A (p.Gly245Asp)
c.725G>A (p.Gly242Asp)
c.689G>A (p.Gly230Asp)
c.680G>A (p.Gly227Asp)
c.656G>A (p.Gly219Asp)
c.711G>A (p.Gly237=)
c.702G>A (p.Gly234=)
c.666G>A (p.Gly222=)
c.659G>A (p.Gly220Asp)
c.714G>A (p.Gly238=)
c.705G>A (p.Gly235=)
c.657G>A (p.Gly219=)
c.636G>A (p.Gly212=)
c.624G>A (p.Gly208=)
n.697G>A
 gnomAD v4
17g.74695841C>ACA400935197CD300LF,RAB37c.601G>T (p.Gly201Cys)
c.647G>T (p.Gly216Val)
c.72+24183C>A (n.72+24183C>A)
c.497G>T (p.Gly166Val)
c.632G>T (p.Gly211Val)
n.479+24183C>A
c.474G>T (p.Arg158Ser)
c.610G>T (p.Gly204Cys)
c.646G>T (p.Gly216Cys)
c.578G>T (p.Gly193Val)
n.773G>T
c.733G>T (p.Gly245Cys)
c.724G>T (p.Gly242Cys)
c.688G>T (p.Gly230Cys)
c.679G>T (p.Gly227Cys)
c.655G>T (p.Gly219Cys)
c.710G>T (p.Gly237Val)
c.701G>T (p.Gly234Val)
c.665G>T (p.Gly222Val)
c.658G>T (p.Gly220Cys)
c.713G>T (p.Gly238Val)
c.704G>T (p.Gly235Val)
c.656G>T (p.Gly219Val)
c.635G>T (p.Gly212Val)
c.623G>T (p.Gly208Val)
n.696G>T
17g.74695841C=CA2275147045CD300LF,RAB37c.601G= (p.Gly201=)
c.647G= (p.Gly216=)
c.72+24183C= (n.72+24183C=)
c.497G= (p.Gly166=)
c.632G= (p.Gly211=)
n.479+24183C=
c.474G= (p.Arg158=)
c.610G= (p.Gly204=)
c.646G= (p.Gly216=)
c.578G= (p.Gly193=)
n.773G=
c.733G= (p.Gly245=)
c.724G= (p.Gly242=)
c.688G= (p.Gly230=)
c.679G= (p.Gly227=)
c.655G= (p.Gly219=)
c.710G= (p.Gly237=)
c.701G= (p.Gly234=)
c.665G= (p.Gly222=)
c.658G= (p.Gly220=)
c.713G= (p.Gly238=)
c.704G= (p.Gly235=)
c.656G= (p.Gly219=)
c.635G= (p.Gly212=)
c.623G= (p.Gly208=)
n.696G=
17g.74695841C>GCA400935198CD300LF,RAB37c.601G>C (p.Gly201Arg)
c.647G>C (p.Gly216Ala)
c.72+24183C>G (n.72+24183C>G)
c.497G>C (p.Gly166Ala)
c.632G>C (p.Gly211Ala)
n.479+24183C>G
c.474G>C (p.Arg158Ser)
c.610G>C (p.Gly204Arg)
c.646G>C (p.Gly216Arg)
c.578G>C (p.Gly193Ala)
n.773G>C
c.733G>C (p.Gly245Arg)
c.724G>C (p.Gly242Arg)
c.688G>C (p.Gly230Arg)
c.679G>C (p.Gly227Arg)
c.655G>C (p.Gly219Arg)
c.710G>C (p.Gly237Ala)
c.701G>C (p.Gly234Ala)
c.665G>C (p.Gly222Ala)
c.658G>C (p.Gly220Arg)
c.713G>C (p.Gly238Ala)
c.704G>C (p.Gly235Ala)
c.656G>C (p.Gly219Ala)
c.635G>C (p.Gly212Ala)
c.623G>C (p.Gly208Ala)
n.696G>C
17g.74695841C>TCA400935199CD300LF,RAB37c.601G>A (p.Gly201Ser)
c.647G>A (p.Gly216Glu)
c.72+24183C>T (n.72+24183C>T)
c.497G>A (p.Gly166Glu)
c.632G>A (p.Gly211Glu)
n.479+24183C>T
c.474G>A (p.Arg158=)
c.610G>A (p.Gly204Ser)
c.646G>A (p.Gly216Ser)
c.578G>A (p.Gly193Glu)
n.773G>A
c.733G>A (p.Gly245Ser)
c.724G>A (p.Gly242Ser)
c.688G>A (p.Gly230Ser)
c.679G>A (p.Gly227Ser)
c.655G>A (p.Gly219Ser)
c.710G>A (p.Gly237Glu)
c.701G>A (p.Gly234Glu)
c.665G>A (p.Gly222Glu)
c.658G>A (p.Gly220Ser)
c.713G>A (p.Gly238Glu)
c.704G>A (p.Gly235Glu)
c.656G>A (p.Gly219Glu)
c.635G>A (p.Gly212Glu)
c.623G>A (p.Gly208Glu)
n.696G>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695842C>ACA400935200CD300LF,RAB37c.600G>T (p.Glu200Asp)
c.646G>T (p.Gly216Trp)
c.72+24184C>A (n.72+24184C>A)
c.496G>T (p.Gly166Trp)
c.631G>T (p.Gly211Trp)
n.479+24184C>A
c.473G>T (p.Arg158Met)
c.609G>T (p.Glu203Asp)
c.645G>T (p.Glu215Asp)
c.577G>T (p.Gly193Trp)
n.772G>T
c.732G>T (p.Glu244Asp)
c.723G>T (p.Glu241Asp)
c.687G>T (p.Glu229Asp)
c.678G>T (p.Glu226Asp)
c.654G>T (p.Glu218Asp)
c.709G>T (p.Gly237Trp)
c.700G>T (p.Gly234Trp)
c.664G>T (p.Gly222Trp)
c.657G>T (p.Glu219Asp)
c.712G>T (p.Gly238Trp)
c.703G>T (p.Gly235Trp)
c.655G>T (p.Gly219Trp)
c.634G>T (p.Gly212Trp)
c.622G>T (p.Gly208Trp)
n.695G>T
17g.74695842C=CA2275147046CD300LF,RAB37c.600G= (p.Glu200=)
c.646G= (p.Gly216=)
c.72+24184C= (n.72+24184C=)
c.496G= (p.Gly166=)
c.631G= (p.Gly211=)
n.479+24184C=
c.473G= (p.Arg158=)
c.609G= (p.Glu203=)
c.645G= (p.Glu215=)
c.577G= (p.Gly193=)
n.772G=
c.732G= (p.Glu244=)
c.723G= (p.Glu241=)
c.687G= (p.Glu229=)
c.678G= (p.Glu226=)
c.654G= (p.Glu218=)
c.709G= (p.Gly237=)
c.700G= (p.Gly234=)
c.664G= (p.Gly222=)
c.657G= (p.Glu219=)
c.712G= (p.Gly238=)
c.703G= (p.Gly235=)
c.655G= (p.Gly219=)
c.634G= (p.Gly212=)
c.622G= (p.Gly208=)
n.695G=
17g.74695842C>GCA400935201CD300LF,RAB37c.600G>C (p.Glu200Asp)
c.646G>C (p.Gly216Arg)
c.72+24184C>G (n.72+24184C>G)
c.496G>C (p.Gly166Arg)
c.631G>C (p.Gly211Arg)
n.479+24184C>G
c.473G>C (p.Arg158Thr)
c.609G>C (p.Glu203Asp)
c.645G>C (p.Glu215Asp)
c.577G>C (p.Gly193Arg)
n.772G>C
c.732G>C (p.Glu244Asp)
c.723G>C (p.Glu241Asp)
c.687G>C (p.Glu229Asp)
c.678G>C (p.Glu226Asp)
c.654G>C (p.Glu218Asp)
c.709G>C (p.Gly237Arg)
c.700G>C (p.Gly234Arg)
c.664G>C (p.Gly222Arg)
c.657G>C (p.Glu219Asp)
c.712G>C (p.Gly238Arg)
c.703G>C (p.Gly235Arg)
c.655G>C (p.Gly219Arg)
c.634G>C (p.Gly212Arg)
c.622G>C (p.Gly208Arg)
n.695G>C
17g.74695842C>TCA8749776CD300LF,RAB37c.600G>A (p.Glu200=)
c.646G>A (p.Gly216Arg)
c.72+24184C>T (n.72+24184C>T)
c.496G>A (p.Gly166Arg)
c.631G>A (p.Gly211Arg)
n.479+24184C>T
c.473G>A (p.Arg158Lys)
c.609G>A (p.Glu203=)
c.645G>A (p.Glu215=)
c.577G>A (p.Gly193Arg)
n.772G>A
c.732G>A (p.Glu244=)
c.723G>A (p.Glu241=)
c.687G>A (p.Glu229=)
c.678G>A (p.Glu226=)
c.654G>A (p.Glu218=)
c.709G>A (p.Gly237Arg)
c.700G>A (p.Gly234Arg)
c.664G>A (p.Gly222Arg)
c.657G>A (p.Glu219=)
c.712G>A (p.Gly238Arg)
c.703G>A (p.Gly235Arg)
c.655G>A (p.Gly219Arg)
c.634G>A (p.Gly212Arg)
c.622G>A (p.Gly208Arg)
n.695G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695843T>ACA400935202CD300LF,RAB37c.599A>T (p.Glu200Val)
c.645A>T (p.Gly215=)
c.72+24185T>A (n.72+24185T>A)
c.495A>T (p.Gly165=)
c.630A>T (p.Gly210=)
n.479+24185T>A
c.472A>T (p.Arg158Trp)
c.608A>T (p.Glu203Val)
c.644A>T (p.Glu215Val)
c.576A>T (p.Gly192=)
n.771A>T
c.731A>T (p.Glu244Val)
c.722A>T (p.Glu241Val)
c.686A>T (p.Glu229Val)
c.677A>T (p.Glu226Val)
c.653A>T (p.Glu218Val)
c.708A>T (p.Gly236=)
c.699A>T (p.Gly233=)
c.663A>T (p.Gly221=)
c.656A>T (p.Glu219Val)
c.711A>T (p.Gly237=)
c.702A>T (p.Gly234=)
c.654A>T (p.Gly218=)
c.633A>T (p.Gly211=)
c.621A>T (p.Gly207=)
n.694A>T
17g.74695843T>CCA400935203CD300LF,RAB37c.599A>G (p.Glu200Gly)
c.645A>G (p.Gly215=)
c.72+24185T>C (n.72+24185T>C)
c.495A>G (p.Gly165=)
c.630A>G (p.Gly210=)
n.479+24185T>C
c.472A>G (p.Arg158Gly)
c.608A>G (p.Glu203Gly)
c.644A>G (p.Glu215Gly)
c.576A>G (p.Gly192=)
n.771A>G
c.731A>G (p.Glu244Gly)
c.722A>G (p.Glu241Gly)
c.686A>G (p.Glu229Gly)
c.677A>G (p.Glu226Gly)
c.653A>G (p.Glu218Gly)
c.708A>G (p.Gly236=)
c.699A>G (p.Gly233=)
c.663A>G (p.Gly221=)
c.656A>G (p.Glu219Gly)
c.711A>G (p.Gly237=)
c.702A>G (p.Gly234=)
c.654A>G (p.Gly218=)
c.633A>G (p.Gly211=)
c.621A>G (p.Gly207=)
n.694A>G
17g.74695843T>GCA400935204CD300LF,RAB37c.599A>C (p.Glu200Ala)
c.645A>C (p.Gly215=)
c.72+24185T>G (n.72+24185T>G)
c.495A>C (p.Gly165=)
c.630A>C (p.Gly210=)
n.479+24185T>G
c.472A>C (p.Arg158=)
c.608A>C (p.Glu203Ala)
c.644A>C (p.Glu215Ala)
c.576A>C (p.Gly192=)
n.771A>C
c.731A>C (p.Glu244Ala)
c.722A>C (p.Glu241Ala)
c.686A>C (p.Glu229Ala)
c.677A>C (p.Glu226Ala)
c.653A>C (p.Glu218Ala)
c.708A>C (p.Gly236=)
c.699A>C (p.Gly233=)
c.663A>C (p.Gly221=)
c.656A>C (p.Glu219Ala)
c.711A>C (p.Gly237=)
c.702A>C (p.Gly234=)
c.654A>C (p.Gly218=)
c.633A>C (p.Gly211=)
c.621A>C (p.Gly207=)
n.694A>C
17g.74695844C>ACA400935207CD300LF,RAB37c.598G>T (p.Glu200Ter)
c.644G>T (p.Gly215Val)
c.72+24186C>A (n.72+24186C>A)
c.494G>T (p.Gly165Val)
c.629G>T (p.Gly210Val)
n.479+24186C>A
c.471G>T (p.Trp157Cys)
c.607G>T (p.Glu203Ter)
c.643G>T (p.Glu215Ter)
c.575G>T (p.Gly192Val)
n.770G>T
c.730G>T (p.Glu244Ter)
c.721G>T (p.Glu241Ter)
c.685G>T (p.Glu229Ter)
c.676G>T (p.Glu226Ter)
c.652G>T (p.Glu218Ter)
c.707G>T (p.Gly236Val)
c.698G>T (p.Gly233Val)
c.662G>T (p.Gly221Val)
c.655G>T (p.Glu219Ter)
c.710G>T (p.Gly237Val)
c.701G>T (p.Gly234Val)
c.653G>T (p.Gly218Val)
c.632G>T (p.Gly211Val)
c.620G>T (p.Gly207Val)
n.693G>T
17g.74695844C>GCA400935206CD300LF,RAB37c.598G>C (p.Glu200Gln)
c.644G>C (p.Gly215Ala)
c.72+24186C>G (n.72+24186C>G)
c.494G>C (p.Gly165Ala)
c.629G>C (p.Gly210Ala)
n.479+24186C>G
c.471G>C (p.Trp157Cys)
c.607G>C (p.Glu203Gln)
c.643G>C (p.Glu215Gln)
c.575G>C (p.Gly192Ala)
n.770G>C
c.730G>C (p.Glu244Gln)
c.721G>C (p.Glu241Gln)
c.685G>C (p.Glu229Gln)
c.676G>C (p.Glu226Gln)
c.652G>C (p.Glu218Gln)
c.707G>C (p.Gly236Ala)
c.698G>C (p.Gly233Ala)
c.662G>C (p.Gly221Ala)
c.655G>C (p.Glu219Gln)
c.710G>C (p.Gly237Ala)
c.701G>C (p.Gly234Ala)
c.653G>C (p.Gly218Ala)
c.632G>C (p.Gly211Ala)
c.620G>C (p.Gly207Ala)
n.693G>C
17g.74695844C>TCA400935205CD300LF,RAB37c.598G>A (p.Glu200Lys)
c.644G>A (p.Gly215Glu)
c.72+24186C>T (n.72+24186C>T)
c.494G>A (p.Gly165Glu)
c.629G>A (p.Gly210Glu)
n.479+24186C>T
c.471G>A (p.Trp157Ter)
c.607G>A (p.Glu203Lys)
c.643G>A (p.Glu215Lys)
c.575G>A (p.Gly192Glu)
n.770G>A
c.730G>A (p.Glu244Lys)
c.721G>A (p.Glu241Lys)
c.685G>A (p.Glu229Lys)
c.676G>A (p.Glu226Lys)
c.652G>A (p.Glu218Lys)
c.707G>A (p.Gly236Glu)
c.698G>A (p.Gly233Glu)
c.662G>A (p.Gly221Glu)
c.655G>A (p.Glu219Lys)
c.710G>A (p.Gly237Glu)
c.701G>A (p.Gly234Glu)
c.653G>A (p.Gly218Glu)
c.632G>A (p.Gly211Glu)
c.620G>A (p.Gly207Glu)
n.693G>A
17g.74695845C>ACA400935208CD300LF,RAB37c.597G>T (p.Leu199=)
c.643G>T (p.Gly215Ter)
c.72+24187C>A (n.72+24187C>A)
c.493G>T (p.Gly165Ter)
c.628G>T (p.Gly210Ter)
n.479+24187C>A
c.470G>T (p.Trp157Leu)
c.606G>T (p.Leu202=)
c.642G>T (p.Leu214=)
c.574G>T (p.Gly192Ter)
n.769G>T
c.729G>T (p.Leu243=)
c.720G>T (p.Leu240=)
c.684G>T (p.Leu228=)
c.675G>T (p.Leu225=)
c.651G>T (p.Leu217=)
c.706G>T (p.Gly236Ter)
c.697G>T (p.Gly233Ter)
c.661G>T (p.Gly221Ter)
c.654G>T (p.Leu218=)
c.709G>T (p.Gly237Ter)
c.700G>T (p.Gly234Ter)
c.652G>T (p.Gly218Ter)
c.631G>T (p.Gly211Ter)
c.619G>T (p.Gly207Ter)
n.692G>T
17g.74695845C>GCA400935210CD300LF,RAB37c.597G>C (p.Leu199=)
c.643G>C (p.Gly215Arg)
c.72+24187C>G (n.72+24187C>G)
c.493G>C (p.Gly165Arg)
c.628G>C (p.Gly210Arg)
n.479+24187C>G
c.470G>C (p.Trp157Ser)
c.606G>C (p.Leu202=)
c.642G>C (p.Leu214=)
c.574G>C (p.Gly192Arg)
n.769G>C
c.729G>C (p.Leu243=)
c.720G>C (p.Leu240=)
c.684G>C (p.Leu228=)
c.675G>C (p.Leu225=)
c.651G>C (p.Leu217=)
c.706G>C (p.Gly236Arg)
c.697G>C (p.Gly233Arg)
c.661G>C (p.Gly221Arg)
c.654G>C (p.Leu218=)
c.709G>C (p.Gly237Arg)
c.700G>C (p.Gly234Arg)
c.652G>C (p.Gly218Arg)
c.631G>C (p.Gly211Arg)
c.619G>C (p.Gly207Arg)
n.692G>C
17g.74695845C>TCA400935209CD300LF,RAB37c.597G>A (p.Leu199=)
c.643G>A (p.Gly215Arg)
c.72+24187C>T (n.72+24187C>T)
c.493G>A (p.Gly165Arg)
c.628G>A (p.Gly210Arg)
n.479+24187C>T
c.470G>A (p.Trp157Ter)
c.606G>A (p.Leu202=)
c.642G>A (p.Leu214=)
c.574G>A (p.Gly192Arg)
n.769G>A
c.729G>A (p.Leu243=)
c.720G>A (p.Leu240=)
c.684G>A (p.Leu228=)
c.675G>A (p.Leu225=)
c.651G>A (p.Leu217=)
c.706G>A (p.Gly236Arg)
c.697G>A (p.Gly233Arg)
c.661G>A (p.Gly221Arg)
c.654G>A (p.Leu218=)
c.709G>A (p.Gly237Arg)
c.700G>A (p.Gly234Arg)
c.652G>A (p.Gly218Arg)
c.631G>A (p.Gly211Arg)
c.619G>A (p.Gly207Arg)
n.692G>A
 gnomAD v4
17g.74695846delCA2810416963CD300LF,RAB37c.596del (p.Leu199ArgfsTer10)
c.642del (p.Gly215GlufsTer?)
c.72+24188del (n.72+24188del)
c.492del (p.Gly165GlufsTer?)
c.627del (p.Gly210GlufsTer?)
n.479+24188del
c.469del (p.Trp157GlyfsTer?)
c.605del (p.Leu202ArgfsTer10)
c.641del (p.Leu214ArgfsTer10)
c.573del (p.Gly192GlufsTer?)
n.768del
c.728del (p.Leu243ArgfsTer10)
c.719del (p.Leu240ArgfsTer10)
c.683del (p.Leu228ArgfsTer10)
c.674del (p.Leu225ArgfsTer10)
c.650del (p.Leu217ArgfsTer10)
c.705del (p.Gly236GlufsTer?)
c.696del (p.Gly233GlufsTer?)
c.660del (p.Gly221GlufsTer?)
c.653del (p.Leu218ArgfsTer10)
c.708del (p.Gly237GlufsTer?)
c.699del (p.Gly234GlufsTer?)
c.651del (p.Gly218GlufsTer?)
c.630del (p.Gly211GlufsTer?)
c.618del (p.Gly207GlufsTer?)
n.691del
17g.74695846A=CA2275147047CD300LF,RAB37c.596T= (p.Leu199=)
c.642T= (p.Pro214=)
c.72+24188A= (n.72+24188A=)
c.492T= (p.Pro164=)
c.627T= (p.Pro209=)
n.479+24188A=
c.469T= (p.Trp157=)
c.605T= (p.Leu202=)
c.641T= (p.Leu214=)
c.573T= (p.Pro191=)
n.768T=
c.728T= (p.Leu243=)
c.719T= (p.Leu240=)
c.683T= (p.Leu228=)
c.674T= (p.Leu225=)
c.650T= (p.Leu217=)
c.705T= (p.Pro235=)
c.696T= (p.Pro232=)
c.660T= (p.Pro220=)
c.653T= (p.Leu218=)
c.708T= (p.Pro236=)
c.699T= (p.Pro233=)
c.651T= (p.Pro217=)
c.630T= (p.Pro210=)
c.618T= (p.Pro206=)
n.691T=
17g.74695846A>CCA400935211CD300LF,RAB37c.596T>G (p.Leu199Arg)
c.642T>G (p.Pro214=)
c.72+24188A>C (n.72+24188A>C)
c.492T>G (p.Pro164=)
c.627T>G (p.Pro209=)
n.479+24188A>C
c.469T>G (p.Trp157Gly)
c.605T>G (p.Leu202Arg)
c.641T>G (p.Leu214Arg)
c.573T>G (p.Pro191=)
n.768T>G
c.728T>G (p.Leu243Arg)
c.719T>G (p.Leu240Arg)
c.683T>G (p.Leu228Arg)
c.674T>G (p.Leu225Arg)
c.650T>G (p.Leu217Arg)
c.705T>G (p.Pro235=)
c.696T>G (p.Pro232=)
c.660T>G (p.Pro220=)
c.653T>G (p.Leu218Arg)
c.708T>G (p.Pro236=)
c.699T>G (p.Pro233=)
c.651T>G (p.Pro217=)
c.630T>G (p.Pro210=)
c.618T>G (p.Pro206=)
n.691T>G
17g.74695846A>GCA400935212CD300LF,RAB37c.596T>C (p.Leu199Pro)
c.642T>C (p.Pro214=)
c.72+24188A>G (n.72+24188A>G)
c.492T>C (p.Pro164=)
c.627T>C (p.Pro209=)
n.479+24188A>G
c.469T>C (p.Trp157Arg)
c.605T>C (p.Leu202Pro)
c.641T>C (p.Leu214Pro)
c.573T>C (p.Pro191=)
n.768T>C
c.728T>C (p.Leu243Pro)
c.719T>C (p.Leu240Pro)
c.683T>C (p.Leu228Pro)
c.674T>C (p.Leu225Pro)
c.650T>C (p.Leu217Pro)
c.705T>C (p.Pro235=)
c.696T>C (p.Pro232=)
c.660T>C (p.Pro220=)
c.653T>C (p.Leu218Pro)
c.708T>C (p.Pro236=)
c.699T>C (p.Pro233=)
c.651T>C (p.Pro217=)
c.630T>C (p.Pro210=)
c.618T>C (p.Pro206=)
n.691T>C
17g.74695846A>TCA8749777CD300LF,RAB37c.596T>A (p.Leu199Gln)
c.642T>A (p.Pro214=)
c.72+24188A>T (n.72+24188A>T)
c.492T>A (p.Pro164=)
c.627T>A (p.Pro209=)
n.479+24188A>T
c.469T>A (p.Trp157Arg)
c.605T>A (p.Leu202Gln)
c.641T>A (p.Leu214Gln)
c.573T>A (p.Pro191=)
n.768T>A
c.728T>A (p.Leu243Gln)
c.719T>A (p.Leu240Gln)
c.683T>A (p.Leu228Gln)
c.674T>A (p.Leu225Gln)
c.650T>A (p.Leu217Gln)
c.705T>A (p.Pro235=)
c.696T>A (p.Pro232=)
c.660T>A (p.Pro220=)
c.653T>A (p.Leu218Gln)
c.708T>A (p.Pro236=)
c.699T>A (p.Pro233=)
c.651T>A (p.Pro217=)
c.630T>A (p.Pro210=)
c.618T>A (p.Pro206=)
n.691T>A
 dbSNP ExAC gnomAD v4
17g.74695847G>ACA400935213CD300LF,RAB37c.595C>T (p.Leu199=)
c.641C>T (p.Pro214Leu)
c.72+24189G>A (n.72+24189G>A)
c.491C>T (p.Pro164Leu)
c.626C>T (p.Pro209Leu)
n.479+24189G>A
c.468C>T (p.Pro156=)
c.604C>T (p.Leu202=)
c.640C>T (p.Leu214=)
c.572C>T (p.Pro191Leu)
n.767C>T
c.727C>T (p.Leu243=)
c.718C>T (p.Leu240=)
c.682C>T (p.Leu228=)
c.673C>T (p.Leu225=)
c.649C>T (p.Leu217=)
c.704C>T (p.Pro235Leu)
c.695C>T (p.Pro232Leu)
c.659C>T (p.Pro220Leu)
c.652C>T (p.Leu218=)
c.707C>T (p.Pro236Leu)
c.698C>T (p.Pro233Leu)
c.650C>T (p.Pro217Leu)
c.629C>T (p.Pro210Leu)
c.617C>T (p.Pro206Leu)
n.690C>T
17g.74695847G>CCA400935214CD300LF,RAB37c.595C>G (p.Leu199Val)
c.641C>G (p.Pro214Arg)
c.72+24189G>C (n.72+24189G>C)
c.491C>G (p.Pro164Arg)
c.626C>G (p.Pro209Arg)
n.479+24189G>C
c.468C>G (p.Pro156=)
c.604C>G (p.Leu202Val)
c.640C>G (p.Leu214Val)
c.572C>G (p.Pro191Arg)
n.767C>G
c.727C>G (p.Leu243Val)
c.718C>G (p.Leu240Val)
c.682C>G (p.Leu228Val)
c.673C>G (p.Leu225Val)
c.649C>G (p.Leu217Val)
c.704C>G (p.Pro235Arg)
c.695C>G (p.Pro232Arg)
c.659C>G (p.Pro220Arg)
c.652C>G (p.Leu218Val)
c.707C>G (p.Pro236Arg)
c.698C>G (p.Pro233Arg)
c.650C>G (p.Pro217Arg)
c.629C>G (p.Pro210Arg)
c.617C>G (p.Pro206Arg)
n.690C>G
17g.74695847G>TCA400935215CD300LF,RAB37c.595C>A (p.Leu199Met)
c.641C>A (p.Pro214His)
c.72+24189G>T (n.72+24189G>T)
c.491C>A (p.Pro164His)
c.626C>A (p.Pro209His)
n.479+24189G>T
c.468C>A (p.Pro156=)
c.604C>A (p.Leu202Met)
c.640C>A (p.Leu214Met)
c.572C>A (p.Pro191His)
n.767C>A
c.727C>A (p.Leu243Met)
c.718C>A (p.Leu240Met)
c.682C>A (p.Leu228Met)
c.673C>A (p.Leu225Met)
c.649C>A (p.Leu217Met)
c.704C>A (p.Pro235His)
c.695C>A (p.Pro232His)
c.659C>A (p.Pro220His)
c.652C>A (p.Leu218Met)
c.707C>A (p.Pro236His)
c.698C>A (p.Pro233His)
c.650C>A (p.Pro217His)
c.629C>A (p.Pro210His)
c.617C>A (p.Pro206His)
n.690C>A
17g.74695850delCA2576380763CD300LF,RAB37c.595del (p.Leu199TrpfsTer10)
c.641del (p.Pro214LeufsTer?)
c.72+24192del (n.72+24192del)
c.491del (p.Pro164LeufsTer?)
c.626del (p.Pro209LeufsTer?)
n.479+24192del
c.468del (p.Trp157GlyfsTer?)
c.604del (p.Leu202TrpfsTer10)
c.640del (p.Leu214TrpfsTer10)
c.572del (p.Pro191LeufsTer?)
n.767del
c.727del (p.Leu243TrpfsTer10)
c.718del (p.Leu240TrpfsTer10)
c.682del (p.Leu228TrpfsTer10)
c.673del (p.Leu225TrpfsTer10)
c.649del (p.Leu217TrpfsTer10)
c.704del (p.Pro235LeufsTer?)
c.695del (p.Pro232LeufsTer?)
c.659del (p.Pro220LeufsTer?)
c.652del (p.Leu218TrpfsTer10)
c.707del (p.Pro236LeufsTer?)
c.698del (p.Pro233LeufsTer?)
c.650del (p.Pro217LeufsTer?)
c.629del (p.Pro210LeufsTer?)
c.617del (p.Pro206LeufsTer?)
n.690del
17g.74695848G>ACA400935216CD300LF,RAB37c.594C>T (p.Pro198=)
c.640C>T (p.Pro214Ser)
c.72+24190G>A (n.72+24190G>A)
c.490C>T (p.Pro164Ser)
c.625C>T (p.Pro209Ser)
n.479+24190G>A
c.467C>T (p.Pro156Leu)
c.603C>T (p.Pro201=)
c.639C>T (p.Pro213=)
c.571C>T (p.Pro191Ser)
n.766C>T
c.726C>T (p.Pro242=)
c.717C>T (p.Pro239=)
c.681C>T (p.Pro227=)
c.672C>T (p.Pro224=)
c.648C>T (p.Pro216=)
c.703C>T (p.Pro235Ser)
c.694C>T (p.Pro232Ser)
c.658C>T (p.Pro220Ser)
c.651C>T (p.Pro217=)
c.706C>T (p.Pro236Ser)
c.697C>T (p.Pro233Ser)
c.649C>T (p.Pro217Ser)
c.628C>T (p.Pro210Ser)
c.616C>T (p.Pro206Ser)
n.689C>T
 COSMIC COSMIC COSMIC
17g.74695848G>CCA400935217CD300LF,RAB37c.594C>G (p.Pro198=)
c.640C>G (p.Pro214Ala)
c.72+24190G>C (n.72+24190G>C)
c.490C>G (p.Pro164Ala)
c.625C>G (p.Pro209Ala)
n.479+24190G>C
c.467C>G (p.Pro156Arg)
c.603C>G (p.Pro201=)
c.639C>G (p.Pro213=)
c.571C>G (p.Pro191Ala)
n.766C>G
c.726C>G (p.Pro242=)
c.717C>G (p.Pro239=)
c.681C>G (p.Pro227=)
c.672C>G (p.Pro224=)
c.648C>G (p.Pro216=)
c.703C>G (p.Pro235Ala)
c.694C>G (p.Pro232Ala)
c.658C>G (p.Pro220Ala)
c.651C>G (p.Pro217=)
c.706C>G (p.Pro236Ala)
c.697C>G (p.Pro233Ala)
c.649C>G (p.Pro217Ala)
c.628C>G (p.Pro210Ala)
c.616C>G (p.Pro206Ala)
n.689C>G
17g.74695848G>TCA400935218CD300LF,RAB37c.594C>A (p.Pro198=)
c.640C>A (p.Pro214Thr)
c.72+24190G>T (n.72+24190G>T)
c.490C>A (p.Pro164Thr)
c.625C>A (p.Pro209Thr)
n.479+24190G>T
c.467C>A (p.Pro156His)
c.603C>A (p.Pro201=)
c.639C>A (p.Pro213=)
c.571C>A (p.Pro191Thr)
n.766C>A
c.726C>A (p.Pro242=)
c.717C>A (p.Pro239=)
c.681C>A (p.Pro227=)
c.672C>A (p.Pro224=)
c.648C>A (p.Pro216=)
c.703C>A (p.Pro235Thr)
c.694C>A (p.Pro232Thr)
c.658C>A (p.Pro220Thr)
c.651C>A (p.Pro217=)
c.706C>A (p.Pro236Thr)
c.697C>A (p.Pro233Thr)
c.649C>A (p.Pro217Thr)
c.628C>A (p.Pro210Thr)
c.616C>A (p.Pro206Thr)
n.689C>A
17g.74695849G>ACA400935219CD300LF,RAB37c.593C>T (p.Pro198Leu)
c.639C>T (p.Ala213=)
c.72+24191G>A (n.72+24191G>A)
c.489C>T (p.Ala163=)
c.624C>T (p.Ala208=)
n.479+24191G>A
c.466C>T (p.Pro156Ser)
c.602C>T (p.Pro201Leu)
c.638C>T (p.Pro213Leu)
c.570C>T (p.Ala190=)
n.765C>T
c.725C>T (p.Pro242Leu)
c.716C>T (p.Pro239Leu)
c.680C>T (p.Pro227Leu)
c.671C>T (p.Pro224Leu)
c.647C>T (p.Pro216Leu)
c.702C>T (p.Ala234=)
c.693C>T (p.Ala231=)
c.657C>T (p.Ala219=)
c.650C>T (p.Pro217Leu)
c.705C>T (p.Ala235=)
c.696C>T (p.Ala232=)
c.648C>T (p.Ala216=)
c.627C>T (p.Ala209=)
c.615C>T (p.Ala205=)
n.688C>T
 gnomAD v4
17g.74695849G>CCA400935220CD300LF,RAB37c.593C>G (p.Pro198Arg)
c.639C>G (p.Ala213=)
c.72+24191G>C (n.72+24191G>C)
c.489C>G (p.Ala163=)
c.624C>G (p.Ala208=)
n.479+24191G>C
c.466C>G (p.Pro156Ala)
c.602C>G (p.Pro201Arg)
c.638C>G (p.Pro213Arg)
c.570C>G (p.Ala190=)
n.765C>G
c.725C>G (p.Pro242Arg)
c.716C>G (p.Pro239Arg)
c.680C>G (p.Pro227Arg)
c.671C>G (p.Pro224Arg)
c.647C>G (p.Pro216Arg)
c.702C>G (p.Ala234=)
c.693C>G (p.Ala231=)
c.657C>G (p.Ala219=)
c.650C>G (p.Pro217Arg)
c.705C>G (p.Ala235=)
c.696C>G (p.Ala232=)
c.648C>G (p.Ala216=)
c.627C>G (p.Ala209=)
c.615C>G (p.Ala205=)
n.688C>G
17g.74695849G>TCA400935221CD300LF,RAB37c.593C>A (p.Pro198His)
c.639C>A (p.Ala213=)
c.72+24191G>T (n.72+24191G>T)
c.489C>A (p.Ala163=)
c.624C>A (p.Ala208=)
n.479+24191G>T
c.466C>A (p.Pro156Thr)
c.602C>A (p.Pro201His)
c.638C>A (p.Pro213His)
c.570C>A (p.Ala190=)
n.765C>A
c.725C>A (p.Pro242His)
c.716C>A (p.Pro239His)
c.680C>A (p.Pro227His)
c.671C>A (p.Pro224His)
c.647C>A (p.Pro216His)
c.702C>A (p.Ala234=)
c.693C>A (p.Ala231=)
c.657C>A (p.Ala219=)
c.650C>A (p.Pro217His)
c.705C>A (p.Ala235=)
c.696C>A (p.Ala232=)
c.648C>A (p.Ala216=)
c.627C>A (p.Ala209=)
c.615C>A (p.Ala205=)
n.688C>A
17g.74695850G>ACA8749778CD300LF,RAB37c.592C>T (p.Pro198Ser)
c.638C>T (p.Ala213Val)
c.72+24192G>A (n.72+24192G>A)
c.488C>T (p.Ala163Val)
c.623C>T (p.Ala208Val)
n.479+24192G>A
c.465C>T (p.Ser155=)
c.601C>T (p.Pro201Ser)
c.637C>T (p.Pro213Ser)
c.569C>T (p.Ala190Val)
n.764C>T
c.724C>T (p.Pro242Ser)
c.715C>T (p.Pro239Ser)
c.679C>T (p.Pro227Ser)
c.670C>T (p.Pro224Ser)
c.646C>T (p.Pro216Ser)
c.701C>T (p.Ala234Val)
c.692C>T (p.Ala231Val)
c.656C>T (p.Ala219Val)
c.649C>T (p.Pro217Ser)
c.704C>T (p.Ala235Val)
c.695C>T (p.Ala232Val)
c.647C>T (p.Ala216Val)
c.626C>T (p.Ala209Val)
c.614C>T (p.Ala205Val)
n.687C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695850G>CCA400935222CD300LF,RAB37c.592C>G (p.Pro198Ala)
c.638C>G (p.Ala213Gly)
c.72+24192G>C (n.72+24192G>C)
c.488C>G (p.Ala163Gly)
c.623C>G (p.Ala208Gly)
n.479+24192G>C
c.465C>G (p.Ser155Arg)
c.601C>G (p.Pro201Ala)
c.637C>G (p.Pro213Ala)
c.569C>G (p.Ala190Gly)
n.764C>G
c.724C>G (p.Pro242Ala)
c.715C>G (p.Pro239Ala)
c.679C>G (p.Pro227Ala)
c.670C>G (p.Pro224Ala)
c.646C>G (p.Pro216Ala)
c.701C>G (p.Ala234Gly)
c.692C>G (p.Ala231Gly)
c.656C>G (p.Ala219Gly)
c.649C>G (p.Pro217Ala)
c.704C>G (p.Ala235Gly)
c.695C>G (p.Ala232Gly)
c.647C>G (p.Ala216Gly)
c.626C>G (p.Ala209Gly)
c.614C>G (p.Ala205Gly)
n.687C>G
17g.74695850G=CA2275147048CD300LF,RAB37c.592C= (p.Pro198=)
c.638C= (p.Ala213=)
c.72+24192G= (n.72+24192G=)
c.488C= (p.Ala163=)
c.623C= (p.Ala208=)
n.479+24192G=
c.465C= (p.Ser155=)
c.601C= (p.Pro201=)
c.637C= (p.Pro213=)
c.569C= (p.Ala190=)
n.764C=
c.724C= (p.Pro242=)
c.715C= (p.Pro239=)
c.679C= (p.Pro227=)
c.670C= (p.Pro224=)
c.646C= (p.Pro216=)
c.701C= (p.Ala234=)
c.692C= (p.Ala231=)
c.656C= (p.Ala219=)
c.649C= (p.Pro217=)
c.704C= (p.Ala235=)
c.695C= (p.Ala232=)
c.647C= (p.Ala216=)
c.626C= (p.Ala209=)
c.614C= (p.Ala205=)
n.687C=
17g.74695850G>TCA400935223CD300LF,RAB37c.592C>A (p.Pro198Thr)
c.638C>A (p.Ala213Asp)
c.72+24192G>T (n.72+24192G>T)
c.488C>A (p.Ala163Asp)
c.623C>A (p.Ala208Asp)
n.479+24192G>T
c.465C>A (p.Ser155Arg)
c.601C>A (p.Pro201Thr)
c.637C>A (p.Pro213Thr)
c.569C>A (p.Ala190Asp)
n.764C>A
c.724C>A (p.Pro242Thr)
c.715C>A (p.Pro239Thr)
c.679C>A (p.Pro227Thr)
c.670C>A (p.Pro224Thr)
c.646C>A (p.Pro216Thr)
c.701C>A (p.Ala234Asp)
c.692C>A (p.Ala231Asp)
c.656C>A (p.Ala219Asp)
c.649C>A (p.Pro217Thr)
c.704C>A (p.Ala235Asp)
c.695C>A (p.Ala232Asp)
c.647C>A (p.Ala216Asp)
c.626C>A (p.Ala209Asp)
c.614C>A (p.Ala205Asp)
n.687C>A
 dbSNP
17g.74695851C>ACA400935224CD300LF,RAB37c.591G>T (p.Gln197His)
c.637G>T (p.Ala213Ser)
c.72+24193C>A (n.72+24193C>A)
c.487G>T (p.Ala163Ser)
c.622G>T (p.Ala208Ser)
n.479+24193C>A
c.464G>T (p.Ser155Ile)
c.600G>T (p.Gln200His)
c.636G>T (p.Gln212His)
c.568G>T (p.Ala190Ser)
n.763G>T
c.723G>T (p.Gln241His)
c.714G>T (p.Gln238His)
c.678G>T (p.Gln226His)
c.669G>T (p.Gln223His)
c.645G>T (p.Gln215His)
c.700G>T (p.Ala234Ser)
c.691G>T (p.Ala231Ser)
c.655G>T (p.Ala219Ser)
c.648G>T (p.Gln216His)
c.703G>T (p.Ala235Ser)
c.694G>T (p.Ala232Ser)
c.646G>T (p.Ala216Ser)
c.625G>T (p.Ala209Ser)
c.613G>T (p.Ala205Ser)
n.686G>T
17g.74695851C=CA2275147049CD300LF,RAB37c.591G= (p.Gln197=)
c.637G= (p.Ala213=)
c.72+24193C= (n.72+24193C=)
c.487G= (p.Ala163=)
c.622G= (p.Ala208=)
n.479+24193C=
c.464G= (p.Ser155=)
c.600G= (p.Gln200=)
c.636G= (p.Gln212=)
c.568G= (p.Ala190=)
n.763G=
c.723G= (p.Gln241=)
c.714G= (p.Gln238=)
c.678G= (p.Gln226=)
c.669G= (p.Gln223=)
c.645G= (p.Gln215=)
c.700G= (p.Ala234=)
c.691G= (p.Ala231=)
c.655G= (p.Ala219=)
c.648G= (p.Gln216=)
c.703G= (p.Ala235=)
c.694G= (p.Ala232=)
c.646G= (p.Ala216=)
c.625G= (p.Ala209=)
c.613G= (p.Ala205=)
n.686G=
17g.74695851C>GCA400935225CD300LF,RAB37c.591G>C (p.Gln197His)
c.637G>C (p.Ala213Pro)
c.72+24193C>G (n.72+24193C>G)
c.487G>C (p.Ala163Pro)
c.622G>C (p.Ala208Pro)
n.479+24193C>G
c.464G>C (p.Ser155Thr)
c.600G>C (p.Gln200His)
c.636G>C (p.Gln212His)
c.568G>C (p.Ala190Pro)
n.763G>C
c.723G>C (p.Gln241His)
c.714G>C (p.Gln238His)
c.678G>C (p.Gln226His)
c.669G>C (p.Gln223His)
c.645G>C (p.Gln215His)
c.700G>C (p.Ala234Pro)
c.691G>C (p.Ala231Pro)
c.655G>C (p.Ala219Pro)
c.648G>C (p.Gln216His)
c.703G>C (p.Ala235Pro)
c.694G>C (p.Ala232Pro)
c.646G>C (p.Ala216Pro)
c.625G>C (p.Ala209Pro)
c.613G>C (p.Ala205Pro)
n.686G>C
17g.74695851C>TCA8749779CD300LF,RAB37c.591G>A (p.Gln197=)
c.637G>A (p.Ala213Thr)
c.72+24193C>T (n.72+24193C>T)
c.487G>A (p.Ala163Thr)
c.622G>A (p.Ala208Thr)
n.479+24193C>T
c.464G>A (p.Ser155Asn)
c.600G>A (p.Gln200=)
c.636G>A (p.Gln212=)
c.568G>A (p.Ala190Thr)
n.763G>A
c.723G>A (p.Gln241=)
c.714G>A (p.Gln238=)
c.678G>A (p.Gln226=)
c.669G>A (p.Gln223=)
c.645G>A (p.Gln215=)
c.700G>A (p.Ala234Thr)
c.691G>A (p.Ala231Thr)
c.655G>A (p.Ala219Thr)
c.648G>A (p.Gln216=)
c.703G>A (p.Ala235Thr)
c.694G>A (p.Ala232Thr)
c.646G>A (p.Ala216Thr)
c.625G>A (p.Ala209Thr)
c.613G>A (p.Ala205Thr)
n.686G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695852T>ACA400935226CD300LF,RAB37c.590A>T (p.Gln197Leu)
c.636A>T (p.Ala212=)
c.72+24194T>A (n.72+24194T>A)
c.486A>T (p.Ala162=)
c.621A>T (p.Ala207=)
n.479+24194T>A
c.463A>T (p.Ser155Cys)
c.599A>T (p.Gln200Leu)
c.635A>T (p.Gln212Leu)
c.567A>T (p.Ala189=)
n.762A>T
c.722A>T (p.Gln241Leu)
c.713A>T (p.Gln238Leu)
c.677A>T (p.Gln226Leu)
c.668A>T (p.Gln223Leu)
c.644A>T (p.Gln215Leu)
c.699A>T (p.Ala233=)
c.690A>T (p.Ala230=)
c.654A>T (p.Ala218=)
c.647A>T (p.Gln216Leu)
c.702A>T (p.Ala234=)
c.693A>T (p.Ala231=)
c.645A>T (p.Ala215=)
c.624A>T (p.Ala208=)
c.612A>T (p.Ala204=)
n.685A>T
17g.74695852T>CCA400935227CD300LF,RAB37c.590A>G (p.Gln197Arg)
c.636A>G (p.Ala212=)
c.72+24194T>C (n.72+24194T>C)
c.486A>G (p.Ala162=)
c.621A>G (p.Ala207=)
n.479+24194T>C
c.463A>G (p.Ser155Gly)
c.599A>G (p.Gln200Arg)
c.635A>G (p.Gln212Arg)
c.567A>G (p.Ala189=)
n.762A>G
c.722A>G (p.Gln241Arg)
c.713A>G (p.Gln238Arg)
c.677A>G (p.Gln226Arg)
c.668A>G (p.Gln223Arg)
c.644A>G (p.Gln215Arg)
c.699A>G (p.Ala233=)
c.690A>G (p.Ala230=)
c.654A>G (p.Ala218=)
c.647A>G (p.Gln216Arg)
c.702A>G (p.Ala234=)
c.693A>G (p.Ala231=)
c.645A>G (p.Ala215=)
c.624A>G (p.Ala208=)
c.612A>G (p.Ala204=)
n.685A>G
17g.74695852T>GCA400935228CD300LF,RAB37c.590A>C (p.Gln197Pro)
c.636A>C (p.Ala212=)
c.72+24194T>G (n.72+24194T>G)
c.486A>C (p.Ala162=)
c.621A>C (p.Ala207=)
n.479+24194T>G
c.463A>C (p.Ser155Arg)
c.599A>C (p.Gln200Pro)
c.635A>C (p.Gln212Pro)
c.567A>C (p.Ala189=)
n.762A>C
c.722A>C (p.Gln241Pro)
c.713A>C (p.Gln238Pro)
c.677A>C (p.Gln226Pro)
c.668A>C (p.Gln223Pro)
c.644A>C (p.Gln215Pro)
c.699A>C (p.Ala233=)
c.690A>C (p.Ala230=)
c.654A>C (p.Ala218=)
c.647A>C (p.Gln216Pro)
c.702A>C (p.Ala234=)
c.693A>C (p.Ala231=)
c.645A>C (p.Ala215=)
c.624A>C (p.Ala208=)
c.612A>C (p.Ala204=)
n.685A>C
17g.74695853G>ACA400935229CD300LF,RAB37c.589C>T (p.Gln197Ter)
c.635C>T (p.Ala212Val)
c.72+24195G>A (n.72+24195G>A)
c.485C>T (p.Ala162Val)
c.620C>T (p.Ala207Val)
n.479+24195G>A
c.462C>T (p.Cys154=)
c.598C>T (p.Gln200Ter)
c.634C>T (p.Gln212Ter)
c.566C>T (p.Ala189Val)
n.761C>T
c.721C>T (p.Gln241Ter)
c.712C>T (p.Gln238Ter)
c.676C>T (p.Gln226Ter)
c.667C>T (p.Gln223Ter)
c.643C>T (p.Gln215Ter)
c.698C>T (p.Ala233Val)
c.689C>T (p.Ala230Val)
c.653C>T (p.Ala218Val)
c.646C>T (p.Gln216Ter)
c.701C>T (p.Ala234Val)
c.692C>T (p.Ala231Val)
c.644C>T (p.Ala215Val)
c.623C>T (p.Ala208Val)
c.611C>T (p.Ala204Val)
n.684C>T
 dbSNP gnomAD v4
17g.74695853G>CCA400935230CD300LF,RAB37c.589C>G (p.Gln197Glu)
c.635C>G (p.Ala212Gly)
c.72+24195G>C (n.72+24195G>C)
c.485C>G (p.Ala162Gly)
c.620C>G (p.Ala207Gly)
n.479+24195G>C
c.462C>G (p.Cys154Trp)
c.598C>G (p.Gln200Glu)
c.634C>G (p.Gln212Glu)
c.566C>G (p.Ala189Gly)
n.761C>G
c.721C>G (p.Gln241Glu)
c.712C>G (p.Gln238Glu)
c.676C>G (p.Gln226Glu)
c.667C>G (p.Gln223Glu)
c.643C>G (p.Gln215Glu)
c.698C>G (p.Ala233Gly)
c.689C>G (p.Ala230Gly)
c.653C>G (p.Ala218Gly)
c.646C>G (p.Gln216Glu)
c.701C>G (p.Ala234Gly)
c.692C>G (p.Ala231Gly)
c.644C>G (p.Ala215Gly)
c.623C>G (p.Ala208Gly)
c.611C>G (p.Ala204Gly)
n.684C>G
17g.74695853G=CA2275147050CD300LF,RAB37c.589C= (p.Gln197=)
c.635C= (p.Ala212=)
c.72+24195G= (n.72+24195G=)
c.485C= (p.Ala162=)
c.620C= (p.Ala207=)
n.479+24195G=
c.462C= (p.Cys154=)
c.598C= (p.Gln200=)
c.634C= (p.Gln212=)
c.566C= (p.Ala189=)
n.761C=
c.721C= (p.Gln241=)
c.712C= (p.Gln238=)
c.676C= (p.Gln226=)
c.667C= (p.Gln223=)
c.643C= (p.Gln215=)
c.698C= (p.Ala233=)
c.689C= (p.Ala230=)
c.653C= (p.Ala218=)
c.646C= (p.Gln216=)
c.701C= (p.Ala234=)
c.692C= (p.Ala231=)
c.644C= (p.Ala215=)
c.623C= (p.Ala208=)
c.611C= (p.Ala204=)
n.684C=
17g.74695853G>TCA400935231CD300LF,RAB37c.589C>A (p.Gln197Lys)
c.635C>A (p.Ala212Glu)
c.72+24195G>T (n.72+24195G>T)
c.485C>A (p.Ala162Glu)
c.620C>A (p.Ala207Glu)
n.479+24195G>T
c.462C>A (p.Cys154Ter)
c.598C>A (p.Gln200Lys)
c.634C>A (p.Gln212Lys)
c.566C>A (p.Ala189Glu)
n.761C>A
c.721C>A (p.Gln241Lys)
c.712C>A (p.Gln238Lys)
c.676C>A (p.Gln226Lys)
c.667C>A (p.Gln223Lys)
c.643C>A (p.Gln215Lys)
c.698C>A (p.Ala233Glu)
c.689C>A (p.Ala230Glu)
c.653C>A (p.Ala218Glu)
c.646C>A (p.Gln216Lys)
c.701C>A (p.Ala234Glu)
c.692C>A (p.Ala231Glu)
c.644C>A (p.Ala215Glu)
c.623C>A (p.Ala208Glu)
c.611C>A (p.Ala204Glu)
n.684C>A
17g.74695854C>ACA400935232CD300LF,RAB37c.588G>T (p.Leu196=)
c.634G>T (p.Ala212Ser)
c.72+24196C>A (n.72+24196C>A)
c.484G>T (p.Ala162Ser)
c.619G>T (p.Ala207Ser)
n.479+24196C>A
c.461G>T (p.Cys154Phe)
c.597G>T (p.Leu199=)
c.633G>T (p.Leu211=)
c.565G>T (p.Ala189Ser)
n.760G>T
c.720G>T (p.Leu240=)
c.711G>T (p.Leu237=)
c.675G>T (p.Leu225=)
c.666G>T (p.Leu222=)
c.642G>T (p.Leu214=)
c.697G>T (p.Ala233Ser)
c.688G>T (p.Ala230Ser)
c.652G>T (p.Ala218Ser)
c.645G>T (p.Leu215=)
c.700G>T (p.Ala234Ser)
c.691G>T (p.Ala231Ser)
c.643G>T (p.Ala215Ser)
c.622G>T (p.Ala208Ser)
c.610G>T (p.Ala204Ser)
n.683G>T
17g.74695854C>GCA400935233CD300LF,RAB37c.588G>C (p.Leu196=)
c.634G>C (p.Ala212Pro)
c.72+24196C>G (n.72+24196C>G)
c.484G>C (p.Ala162Pro)
c.619G>C (p.Ala207Pro)
n.479+24196C>G
c.461G>C (p.Cys154Ser)
c.597G>C (p.Leu199=)
c.633G>C (p.Leu211=)
c.565G>C (p.Ala189Pro)
n.760G>C
c.720G>C (p.Leu240=)
c.711G>C (p.Leu237=)
c.675G>C (p.Leu225=)
c.666G>C (p.Leu222=)
c.642G>C (p.Leu214=)
c.697G>C (p.Ala233Pro)
c.688G>C (p.Ala230Pro)
c.652G>C (p.Ala218Pro)
c.645G>C (p.Leu215=)
c.700G>C (p.Ala234Pro)
c.691G>C (p.Ala231Pro)
c.643G>C (p.Ala215Pro)
c.622G>C (p.Ala208Pro)
c.610G>C (p.Ala204Pro)
n.683G>C
17g.74695854C>TCA400935234CD300LF,RAB37c.588G>A (p.Leu196=)
c.634G>A (p.Ala212Thr)
c.72+24196C>T (n.72+24196C>T)
c.484G>A (p.Ala162Thr)
c.619G>A (p.Ala207Thr)
n.479+24196C>T
c.461G>A (p.Cys154Tyr)
c.597G>A (p.Leu199=)
c.633G>A (p.Leu211=)
c.565G>A (p.Ala189Thr)
n.760G>A
c.720G>A (p.Leu240=)
c.711G>A (p.Leu237=)
c.675G>A (p.Leu225=)
c.666G>A (p.Leu222=)
c.642G>A (p.Leu214=)
c.697G>A (p.Ala233Thr)
c.688G>A (p.Ala230Thr)
c.652G>A (p.Ala218Thr)
c.645G>A (p.Leu215=)
c.700G>A (p.Ala234Thr)
c.691G>A (p.Ala231Thr)
c.643G>A (p.Ala215Thr)
c.622G>A (p.Ala208Thr)
c.610G>A (p.Ala204Thr)
n.683G>A
17g.74695855A>CCA400935236CD300LF,RAB37c.587T>G (p.Leu196Arg)
c.633T>G (p.Thr211=)
c.72+24197A>C (n.72+24197A>C)
c.483T>G (p.Thr161=)
c.618T>G (p.Thr206=)
n.479+24197A>C
c.460T>G (p.Cys154Gly)
c.596T>G (p.Leu199Arg)
c.632T>G (p.Leu211Arg)
c.564T>G (p.Thr188=)
n.759T>G
c.719T>G (p.Leu240Arg)
c.710T>G (p.Leu237Arg)
c.674T>G (p.Leu225Arg)
c.665T>G (p.Leu222Arg)
c.641T>G (p.Leu214Arg)
c.696T>G (p.Thr232=)
c.687T>G (p.Thr229=)
c.651T>G (p.Thr217=)
c.644T>G (p.Leu215Arg)
c.699T>G (p.Thr233=)
c.690T>G (p.Thr230=)
c.642T>G (p.Thr214=)
c.621T>G (p.Thr207=)
c.609T>G (p.Thr203=)
n.682T>G
17g.74695855A>GCA400935237CD300LF,RAB37c.587T>C (p.Leu196Pro)
c.633T>C (p.Thr211=)
c.72+24197A>G (n.72+24197A>G)
c.483T>C (p.Thr161=)
c.618T>C (p.Thr206=)
n.479+24197A>G
c.460T>C (p.Cys154Arg)
c.596T>C (p.Leu199Pro)
c.632T>C (p.Leu211Pro)
c.564T>C (p.Thr188=)
n.759T>C
c.719T>C (p.Leu240Pro)
c.710T>C (p.Leu237Pro)
c.674T>C (p.Leu225Pro)
c.665T>C (p.Leu222Pro)
c.641T>C (p.Leu214Pro)
c.696T>C (p.Thr232=)
c.687T>C (p.Thr229=)
c.651T>C (p.Thr217=)
c.644T>C (p.Leu215Pro)
c.699T>C (p.Thr233=)
c.690T>C (p.Thr230=)
c.642T>C (p.Thr214=)
c.621T>C (p.Thr207=)
c.609T>C (p.Thr203=)
n.682T>C
17g.74695855A>TCA400935235CD300LF,RAB37c.587T>A (p.Leu196Gln)
c.633T>A (p.Thr211=)
c.72+24197A>T (n.72+24197A>T)
c.483T>A (p.Thr161=)
c.618T>A (p.Thr206=)
n.479+24197A>T
c.460T>A (p.Cys154Ser)
c.596T>A (p.Leu199Gln)
c.632T>A (p.Leu211Gln)
c.564T>A (p.Thr188=)
n.759T>A
c.719T>A (p.Leu240Gln)
c.710T>A (p.Leu237Gln)
c.674T>A (p.Leu225Gln)
c.665T>A (p.Leu222Gln)
c.641T>A (p.Leu214Gln)
c.696T>A (p.Thr232=)
c.687T>A (p.Thr229=)
c.651T>A (p.Thr217=)
c.644T>A (p.Leu215Gln)
c.699T>A (p.Thr233=)
c.690T>A (p.Thr230=)
c.642T>A (p.Thr214=)
c.621T>A (p.Thr207=)
c.609T>A (p.Thr203=)
n.682T>A
17g.74695856G>ACA293928576CD300LF,RAB37c.586C>T (p.Leu196=)
c.632C>T (p.Thr211Ile)
c.72+24198G>A (n.72+24198G>A)
c.482C>T (p.Thr161Ile)
c.617C>T (p.Thr206Ile)
n.479+24198G>A
c.459C>T (p.Tyr153=)
c.595C>T (p.Leu199=)
c.631C>T (p.Leu211=)
c.563C>T (p.Thr188Ile)
n.758C>T
c.718C>T (p.Leu240=)
c.709C>T (p.Leu237=)
c.673C>T (p.Leu225=)
c.664C>T (p.Leu222=)
c.640C>T (p.Leu214=)
c.695C>T (p.Thr232Ile)
c.686C>T (p.Thr229Ile)
c.650C>T (p.Thr217Ile)
c.643C>T (p.Leu215=)
c.698C>T (p.Thr233Ile)
c.689C>T (p.Thr230Ile)
c.641C>T (p.Thr214Ile)
c.620C>T (p.Thr207Ile)
c.608C>T (p.Thr203Ile)
n.681C>T
 dbSNP
17g.74695856G>CCA400935238CD300LF,RAB37c.586C>G (p.Leu196Val)
c.632C>G (p.Thr211Ser)
c.72+24198G>C (n.72+24198G>C)
c.482C>G (p.Thr161Ser)
c.617C>G (p.Thr206Ser)
n.479+24198G>C
c.459C>G (p.Tyr153Ter)
c.595C>G (p.Leu199Val)
c.631C>G (p.Leu211Val)
c.563C>G (p.Thr188Ser)
n.758C>G
c.718C>G (p.Leu240Val)
c.709C>G (p.Leu237Val)
c.673C>G (p.Leu225Val)
c.664C>G (p.Leu222Val)
c.640C>G (p.Leu214Val)
c.695C>G (p.Thr232Ser)
c.686C>G (p.Thr229Ser)
c.650C>G (p.Thr217Ser)
c.643C>G (p.Leu215Val)
c.698C>G (p.Thr233Ser)
c.689C>G (p.Thr230Ser)
c.641C>G (p.Thr214Ser)
c.620C>G (p.Thr207Ser)
c.608C>G (p.Thr203Ser)
n.681C>G
17g.74695856G=CA2275147051CD300LF,RAB37c.586C= (p.Leu196=)
c.632C= (p.Thr211=)
c.72+24198G= (n.72+24198G=)
c.482C= (p.Thr161=)
c.617C= (p.Thr206=)
n.479+24198G=
c.459C= (p.Tyr153=)
c.595C= (p.Leu199=)
c.631C= (p.Leu211=)
c.563C= (p.Thr188=)
n.758C=
c.718C= (p.Leu240=)
c.709C= (p.Leu237=)
c.673C= (p.Leu225=)
c.664C= (p.Leu222=)
c.640C= (p.Leu214=)
c.695C= (p.Thr232=)
c.686C= (p.Thr229=)
c.650C= (p.Thr217=)
c.643C= (p.Leu215=)
c.698C= (p.Thr233=)
c.689C= (p.Thr230=)
c.641C= (p.Thr214=)
c.620C= (p.Thr207=)
c.608C= (p.Thr203=)
n.681C=
17g.74695856G>TCA400935239CD300LF,RAB37c.586C>A (p.Leu196Met)
c.632C>A (p.Thr211Asn)
c.72+24198G>T (n.72+24198G>T)
c.482C>A (p.Thr161Asn)
c.617C>A (p.Thr206Asn)
n.479+24198G>T
c.459C>A (p.Tyr153Ter)
c.595C>A (p.Leu199Met)
c.631C>A (p.Leu211Met)
c.563C>A (p.Thr188Asn)
n.758C>A
c.718C>A (p.Leu240Met)
c.709C>A (p.Leu237Met)
c.673C>A (p.Leu225Met)
c.664C>A (p.Leu222Met)
c.640C>A (p.Leu214Met)
c.695C>A (p.Thr232Asn)
c.686C>A (p.Thr229Asn)
c.650C>A (p.Thr217Asn)
c.643C>A (p.Leu215Met)
c.698C>A (p.Thr233Asn)
c.689C>A (p.Thr230Asn)
c.641C>A (p.Thr214Asn)
c.620C>A (p.Thr207Asn)
c.608C>A (p.Thr203Asn)
n.681C>A
17g.74695857T>ACA400935240CD300LF,RAB37c.585A>T (p.Val195=)
c.631A>T (p.Thr211Ser)
c.72+24199T>A (n.72+24199T>A)
c.481A>T (p.Thr161Ser)
c.616A>T (p.Thr206Ser)
n.479+24199T>A
c.458A>T (p.Tyr153Phe)
c.594A>T (p.Val198=)
c.630A>T (p.Val210=)
c.562A>T (p.Thr188Ser)
n.757A>T
c.717A>T (p.Val239=)
c.708A>T (p.Val236=)
c.672A>T (p.Val224=)
c.663A>T (p.Val221=)
c.639A>T (p.Val213=)
c.694A>T (p.Thr232Ser)
c.685A>T (p.Thr229Ser)
c.649A>T (p.Thr217Ser)
c.642A>T (p.Val214=)
c.697A>T (p.Thr233Ser)
c.688A>T (p.Thr230Ser)
c.640A>T (p.Thr214Ser)
c.619A>T (p.Thr207Ser)
c.607A>T (p.Thr203Ser)
n.680A>T
17g.74695857T>CCA400935241CD300LF,RAB37c.585A>G (p.Val195=)
c.631A>G (p.Thr211Ala)
c.72+24199T>C (n.72+24199T>C)
c.481A>G (p.Thr161Ala)
c.616A>G (p.Thr206Ala)
n.479+24199T>C
c.458A>G (p.Tyr153Cys)
c.594A>G (p.Val198=)
c.630A>G (p.Val210=)
c.562A>G (p.Thr188Ala)
n.757A>G
c.717A>G (p.Val239=)
c.708A>G (p.Val236=)
c.672A>G (p.Val224=)
c.663A>G (p.Val221=)
c.639A>G (p.Val213=)
c.694A>G (p.Thr232Ala)
c.685A>G (p.Thr229Ala)
c.649A>G (p.Thr217Ala)
c.642A>G (p.Val214=)
c.697A>G (p.Thr233Ala)
c.688A>G (p.Thr230Ala)
c.640A>G (p.Thr214Ala)
c.619A>G (p.Thr207Ala)
c.607A>G (p.Thr203Ala)
n.680A>G
 dbSNP
17g.74695857T>GCA400935242CD300LF,RAB37c.585A>C (p.Val195=)
c.631A>C (p.Thr211Pro)
c.72+24199T>G (n.72+24199T>G)
c.481A>C (p.Thr161Pro)
c.616A>C (p.Thr206Pro)
n.479+24199T>G
c.458A>C (p.Tyr153Ser)
c.594A>C (p.Val198=)
c.630A>C (p.Val210=)
c.562A>C (p.Thr188Pro)
n.757A>C
c.717A>C (p.Val239=)
c.708A>C (p.Val236=)
c.672A>C (p.Val224=)
c.663A>C (p.Val221=)
c.639A>C (p.Val213=)
c.694A>C (p.Thr232Pro)
c.685A>C (p.Thr229Pro)
c.649A>C (p.Thr217Pro)
c.642A>C (p.Val214=)
c.697A>C (p.Thr233Pro)
c.688A>C (p.Thr230Pro)
c.640A>C (p.Thr214Pro)
c.619A>C (p.Thr207Pro)
c.607A>C (p.Thr203Pro)
n.680A>C
17g.74695858A>CCA400935243CD300LF,RAB37c.584T>G (p.Val195Gly)
c.630T>G (p.Gly210=)
c.72+24200A>C (n.72+24200A>C)
c.480T>G (p.Gly160=)
c.615T>G (p.Gly205=)
n.479+24200A>C
c.457T>G (p.Tyr153Asp)
c.593T>G (p.Val198Gly)
c.629T>G (p.Val210Gly)
c.561T>G (p.Gly187=)
n.756T>G
c.716T>G (p.Val239Gly)
c.707T>G (p.Val236Gly)
c.671T>G (p.Val224Gly)
c.662T>G (p.Val221Gly)
c.638T>G (p.Val213Gly)
c.693T>G (p.Gly231=)
c.684T>G (p.Gly228=)
c.648T>G (p.Gly216=)
c.641T>G (p.Val214Gly)
c.696T>G (p.Gly232=)
c.687T>G (p.Gly229=)
c.639T>G (p.Gly213=)
c.618T>G (p.Gly206=)
c.606T>G (p.Gly202=)
n.679T>G
17g.74695858A>GCA400935244CD300LF,RAB37c.584T>C (p.Val195Ala)
c.630T>C (p.Gly210=)
c.72+24200A>G (n.72+24200A>G)
c.480T>C (p.Gly160=)
c.615T>C (p.Gly205=)
n.479+24200A>G
c.457T>C (p.Tyr153His)
c.593T>C (p.Val198Ala)
c.629T>C (p.Val210Ala)
c.561T>C (p.Gly187=)
n.756T>C
c.716T>C (p.Val239Ala)
c.707T>C (p.Val236Ala)
c.671T>C (p.Val224Ala)
c.662T>C (p.Val221Ala)
c.638T>C (p.Val213Ala)
c.693T>C (p.Gly231=)
c.684T>C (p.Gly228=)
c.648T>C (p.Gly216=)
c.641T>C (p.Val214Ala)
c.696T>C (p.Gly232=)
c.687T>C (p.Gly229=)
c.639T>C (p.Gly213=)
c.618T>C (p.Gly206=)
c.606T>C (p.Gly202=)
n.679T>C
 gnomAD v4 COSMIC COSMIC COSMIC
17g.74695858A>TCA400935245CD300LF,RAB37c.584T>A (p.Val195Glu)
c.630T>A (p.Gly210=)
c.72+24200A>T (n.72+24200A>T)
c.480T>A (p.Gly160=)
c.615T>A (p.Gly205=)
n.479+24200A>T
c.457T>A (p.Tyr153Asn)
c.593T>A (p.Val198Glu)
c.629T>A (p.Val210Glu)
c.561T>A (p.Gly187=)
n.756T>A
c.716T>A (p.Val239Glu)
c.707T>A (p.Val236Glu)
c.671T>A (p.Val224Glu)
c.662T>A (p.Val221Glu)
c.638T>A (p.Val213Glu)
c.693T>A (p.Gly231=)
c.684T>A (p.Gly228=)
c.648T>A (p.Gly216=)
c.641T>A (p.Val214Glu)
c.696T>A (p.Gly232=)
c.687T>A (p.Gly229=)
c.639T>A (p.Gly213=)
c.618T>A (p.Gly206=)
c.606T>A (p.Gly202=)
n.679T>A
17g.74695859C>ACA8749780CD300LF,RAB37c.583G>T (p.Val195Leu)
c.629G>T (p.Gly210Val)
c.72+24201C>A (n.72+24201C>A)
c.479G>T (p.Gly160Val)
c.614G>T (p.Gly205Val)
n.479+24201C>A
c.456G>T (p.Arg152Ser)
c.592G>T (p.Val198Leu)
c.628G>T (p.Val210Leu)
c.560G>T (p.Gly187Val)
n.755G>T
c.715G>T (p.Val239Leu)
c.706G>T (p.Val236Leu)
c.670G>T (p.Val224Leu)
c.661G>T (p.Val221Leu)
c.637G>T (p.Val213Leu)
c.692G>T (p.Gly231Val)
c.683G>T (p.Gly228Val)
c.647G>T (p.Gly216Val)
c.640G>T (p.Val214Leu)
c.695G>T (p.Gly232Val)
c.686G>T (p.Gly229Val)
c.638G>T (p.Gly213Val)
c.617G>T (p.Gly206Val)
c.605G>T (p.Gly202Val)
n.678G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695859C=CA2275147052CD300LF,RAB37c.583G= (p.Val195=)
c.629G= (p.Gly210=)
c.72+24201C= (n.72+24201C=)
c.479G= (p.Gly160=)
c.614G= (p.Gly205=)
n.479+24201C=
c.456G= (p.Arg152=)
c.592G= (p.Val198=)
c.628G= (p.Val210=)
c.560G= (p.Gly187=)
n.755G=
c.715G= (p.Val239=)
c.706G= (p.Val236=)
c.670G= (p.Val224=)
c.661G= (p.Val221=)
c.637G= (p.Val213=)
c.692G= (p.Gly231=)
c.683G= (p.Gly228=)
c.647G= (p.Gly216=)
c.640G= (p.Val214=)
c.695G= (p.Gly232=)
c.686G= (p.Gly229=)
c.638G= (p.Gly213=)
c.617G= (p.Gly206=)
c.605G= (p.Gly202=)
n.678G=
17g.74695859C>GCA400935246CD300LF,RAB37c.583G>C (p.Val195Leu)
c.629G>C (p.Gly210Ala)
c.72+24201C>G (n.72+24201C>G)
c.479G>C (p.Gly160Ala)
c.614G>C (p.Gly205Ala)
n.479+24201C>G
c.456G>C (p.Arg152Ser)
c.592G>C (p.Val198Leu)
c.628G>C (p.Val210Leu)
c.560G>C (p.Gly187Ala)
n.755G>C
c.715G>C (p.Val239Leu)
c.706G>C (p.Val236Leu)
c.670G>C (p.Val224Leu)
c.661G>C (p.Val221Leu)
c.637G>C (p.Val213Leu)
c.692G>C (p.Gly231Ala)
c.683G>C (p.Gly228Ala)
c.647G>C (p.Gly216Ala)
c.640G>C (p.Val214Leu)
c.695G>C (p.Gly232Ala)
c.686G>C (p.Gly229Ala)
c.638G>C (p.Gly213Ala)
c.617G>C (p.Gly206Ala)
c.605G>C (p.Gly202Ala)
n.678G>C
17g.74695859C>TCA400935247CD300LF,RAB37c.583G>A (p.Val195Ile)
c.629G>A (p.Gly210Asp)
c.72+24201C>T (n.72+24201C>T)
c.479G>A (p.Gly160Asp)
c.614G>A (p.Gly205Asp)
n.479+24201C>T
c.456G>A (p.Arg152=)
c.592G>A (p.Val198Ile)
c.628G>A (p.Val210Ile)
c.560G>A (p.Gly187Asp)
n.755G>A
c.715G>A (p.Val239Ile)
c.706G>A (p.Val236Ile)
c.670G>A (p.Val224Ile)
c.661G>A (p.Val221Ile)
c.637G>A (p.Val213Ile)
c.692G>A (p.Gly231Asp)
c.683G>A (p.Gly228Asp)
c.647G>A (p.Gly216Asp)
c.640G>A (p.Val214Ile)
c.695G>A (p.Gly232Asp)
c.686G>A (p.Gly229Asp)
c.638G>A (p.Gly213Asp)
c.617G>A (p.Gly206Asp)
c.605G>A (p.Gly202Asp)
n.678G>A
17g.74695860C>ACA400935249CD300LF,RAB37c.583-1G>T (n.583-1G>T)
c.629-1G>T (n.629-1G>T)
c.72+24202C>A (n.72+24202C>A)
c.479-1G>T (n.479-1G>T)
c.614-1G>T (n.614-1G>T)
n.479+24202C>A
c.456-1G>T (n.456-1G>T)
c.592-1G>T (n.592-1G>T)
c.628-1G>T (n.628-1G>T)
c.560-1G>T (n.560-1G>T)
n.755-1G>T
c.715-1G>T (n.715-1G>T)
c.706-1G>T (n.706-1G>T)
c.670-1G>T (n.670-1G>T)
c.661-1G>T (n.661-1G>T)
c.637-1G>T (n.637-1G>T)
c.692-1G>T (n.692-1G>T)
c.683-1G>T (n.683-1G>T)
c.647-1G>T (n.647-1G>T)
c.640-1G>T (n.640-1G>T)
c.695-1G>T (n.695-1G>T)
c.686-1G>T (n.686-1G>T)
c.638-1G>T (n.638-1G>T)
c.617-1G>T (n.617-1G>T)
c.605-1G>T (n.605-1G>T)
n.678-1G>T
17g.74695860C=CA2275147053CD300LF,RAB37c.583-1G= (n.583-1G=)
c.629-1G= (n.629-1G=)
c.72+24202C= (n.72+24202C=)
c.479-1G= (n.479-1G=)
c.614-1G= (n.614-1G=)
n.479+24202C=
c.456-1G= (n.456-1G=)
c.592-1G= (n.592-1G=)
c.628-1G= (n.628-1G=)
c.560-1G= (n.560-1G=)
n.755-1G=
c.715-1G= (n.715-1G=)
c.706-1G= (n.706-1G=)
c.670-1G= (n.670-1G=)
c.661-1G= (n.661-1G=)
c.637-1G= (n.637-1G=)
c.692-1G= (n.692-1G=)
c.683-1G= (n.683-1G=)
c.647-1G= (n.647-1G=)
c.640-1G= (n.640-1G=)
c.695-1G= (n.695-1G=)
c.686-1G= (n.686-1G=)
c.638-1G= (n.638-1G=)
c.617-1G= (n.617-1G=)
c.605-1G= (n.605-1G=)
n.678-1G=
17g.74695860C>GCA400935250CD300LF,RAB37c.583-1G>C (n.583-1G>C)
c.629-1G>C (n.629-1G>C)
c.72+24202C>G (n.72+24202C>G)
c.479-1G>C (n.479-1G>C)
c.614-1G>C (n.614-1G>C)
n.479+24202C>G
c.456-1G>C (n.456-1G>C)
c.592-1G>C (n.592-1G>C)
c.628-1G>C (n.628-1G>C)
c.560-1G>C (n.560-1G>C)
n.755-1G>C
c.715-1G>C (n.715-1G>C)
c.706-1G>C (n.706-1G>C)
c.670-1G>C (n.670-1G>C)
c.661-1G>C (n.661-1G>C)
c.637-1G>C (n.637-1G>C)
c.692-1G>C (n.692-1G>C)
c.683-1G>C (n.683-1G>C)
c.647-1G>C (n.647-1G>C)
c.640-1G>C (n.640-1G>C)
c.695-1G>C (n.695-1G>C)
c.686-1G>C (n.686-1G>C)
c.638-1G>C (n.638-1G>C)
c.617-1G>C (n.617-1G>C)
c.605-1G>C (n.605-1G>C)
n.678-1G>C
 gnomAD v4
17g.74695860C>TCA400935248CD300LF,RAB37c.583-1G>A (n.583-1G>A)
c.629-1G>A (n.629-1G>A)
c.72+24202C>T (n.72+24202C>T)
c.479-1G>A (n.479-1G>A)
c.614-1G>A (n.614-1G>A)
n.479+24202C>T
c.456-1G>A (n.456-1G>A)
c.592-1G>A (n.592-1G>A)
c.628-1G>A (n.628-1G>A)
c.560-1G>A (n.560-1G>A)
n.755-1G>A
c.715-1G>A (n.715-1G>A)
c.706-1G>A (n.706-1G>A)
c.670-1G>A (n.670-1G>A)
c.661-1G>A (n.661-1G>A)
c.637-1G>A (n.637-1G>A)
c.692-1G>A (n.692-1G>A)
c.683-1G>A (n.683-1G>A)
c.647-1G>A (n.647-1G>A)
c.640-1G>A (n.640-1G>A)
c.695-1G>A (n.695-1G>A)
c.686-1G>A (n.686-1G>A)
c.638-1G>A (n.638-1G>A)
c.617-1G>A (n.617-1G>A)
c.605-1G>A (n.605-1G>A)
n.678-1G>A
 dbSNP gnomAD v2 gnomAD v4
17g.74695861T>ACA400935251CD300LF,RAB37c.583-2A>T (n.583-2A>T)
c.629-2A>T (n.629-2A>T)
c.72+24203T>A (n.72+24203T>A)
c.479-2A>T (n.479-2A>T)
c.614-2A>T (n.614-2A>T)
n.479+24203T>A
c.456-2A>T (n.456-2A>T)
c.592-2A>T (n.592-2A>T)
c.628-2A>T (n.628-2A>T)
c.560-2A>T (n.560-2A>T)
n.755-2A>T
c.715-2A>T (n.715-2A>T)
c.706-2A>T (n.706-2A>T)
c.670-2A>T (n.670-2A>T)
c.661-2A>T (n.661-2A>T)
c.637-2A>T (n.637-2A>T)
c.692-2A>T (n.692-2A>T)
c.683-2A>T (n.683-2A>T)
c.647-2A>T (n.647-2A>T)
c.640-2A>T (n.640-2A>T)
c.695-2A>T (n.695-2A>T)
c.686-2A>T (n.686-2A>T)
c.638-2A>T (n.638-2A>T)
c.617-2A>T (n.617-2A>T)
c.605-2A>T (n.605-2A>T)
n.678-2A>T
17g.74695861T>CCA400935252CD300LF,RAB37c.583-2A>G (n.583-2A>G)
c.629-2A>G (n.629-2A>G)
c.72+24203T>C (n.72+24203T>C)
c.479-2A>G (n.479-2A>G)
c.614-2A>G (n.614-2A>G)
n.479+24203T>C
c.456-2A>G (n.456-2A>G)
c.592-2A>G (n.592-2A>G)
c.628-2A>G (n.628-2A>G)
c.560-2A>G (n.560-2A>G)
n.755-2A>G
c.715-2A>G (n.715-2A>G)
c.706-2A>G (n.706-2A>G)
c.670-2A>G (n.670-2A>G)
c.661-2A>G (n.661-2A>G)
c.637-2A>G (n.637-2A>G)
c.692-2A>G (n.692-2A>G)
c.683-2A>G (n.683-2A>G)
c.647-2A>G (n.647-2A>G)
c.640-2A>G (n.640-2A>G)
c.695-2A>G (n.695-2A>G)
c.686-2A>G (n.686-2A>G)
c.638-2A>G (n.638-2A>G)
c.617-2A>G (n.617-2A>G)
c.605-2A>G (n.605-2A>G)
n.678-2A>G
 dbSNP
17g.74695861T>GCA400935253CD300LF,RAB37c.583-2A>C (n.583-2A>C)
c.629-2A>C (n.629-2A>C)
c.72+24203T>G (n.72+24203T>G)
c.479-2A>C (n.479-2A>C)
c.614-2A>C (n.614-2A>C)
n.479+24203T>G
c.456-2A>C (n.456-2A>C)
c.592-2A>C (n.592-2A>C)
c.628-2A>C (n.628-2A>C)
c.560-2A>C (n.560-2A>C)
n.755-2A>C
c.715-2A>C (n.715-2A>C)
c.706-2A>C (n.706-2A>C)
c.670-2A>C (n.670-2A>C)
c.661-2A>C (n.661-2A>C)
c.637-2A>C (n.637-2A>C)
c.692-2A>C (n.692-2A>C)
c.683-2A>C (n.683-2A>C)
c.647-2A>C (n.647-2A>C)
c.640-2A>C (n.640-2A>C)
c.695-2A>C (n.695-2A>C)
c.686-2A>C (n.686-2A>C)
c.638-2A>C (n.638-2A>C)
c.617-2A>C (n.617-2A>C)
c.605-2A>C (n.605-2A>C)
n.678-2A>C
17g.74695861T=CA2275147054CD300LF,RAB37c.583-2A= (n.583-2A=)
c.629-2A= (n.629-2A=)
c.72+24203T= (n.72+24203T=)
c.479-2A= (n.479-2A=)
c.614-2A= (n.614-2A=)
n.479+24203T=
c.456-2A= (n.456-2A=)
c.592-2A= (n.592-2A=)
c.628-2A= (n.628-2A=)
c.560-2A= (n.560-2A=)
n.755-2A=
c.715-2A= (n.715-2A=)
c.706-2A= (n.706-2A=)
c.670-2A= (n.670-2A=)
c.661-2A= (n.661-2A=)
c.637-2A= (n.637-2A=)
c.692-2A= (n.692-2A=)
c.683-2A= (n.683-2A=)
c.647-2A= (n.647-2A=)
c.640-2A= (n.640-2A=)
c.695-2A= (n.695-2A=)
c.686-2A= (n.686-2A=)
c.638-2A= (n.638-2A=)
c.617-2A= (n.617-2A=)
c.605-2A= (n.605-2A=)
n.678-2A=
17g.74695862G>ACA293928577CD300LF,RAB37c.583-3C>T (n.583-3C>T)
c.629-3C>T (n.629-3C>T)
c.72+24204G>A (n.72+24204G>A)
c.479-3C>T (n.479-3C>T)
c.614-3C>T (n.614-3C>T)
n.479+24204G>A
c.456-3C>T (n.456-3C>T)
c.592-3C>T (n.592-3C>T)
c.628-3C>T (n.628-3C>T)
c.560-3C>T (n.560-3C>T)
n.755-3C>T
c.715-3C>T (n.715-3C>T)
c.706-3C>T (n.706-3C>T)
c.670-3C>T (n.670-3C>T)
c.661-3C>T (n.661-3C>T)
c.637-3C>T (n.637-3C>T)
c.692-3C>T (n.692-3C>T)
c.683-3C>T (n.683-3C>T)
c.647-3C>T (n.647-3C>T)
c.640-3C>T (n.640-3C>T)
c.695-3C>T (n.695-3C>T)
c.686-3C>T (n.686-3C>T)
c.638-3C>T (n.638-3C>T)
c.617-3C>T (n.617-3C>T)
c.605-3C>T (n.605-3C>T)
n.678-3C>T
 dbSNP gnomAD v3 gnomAD v4
17g.74695862G=CA2275147055CD300LF,RAB37c.583-3C= (n.583-3C=)
c.629-3C= (n.629-3C=)
c.72+24204G= (n.72+24204G=)
c.479-3C= (n.479-3C=)
c.614-3C= (n.614-3C=)
n.479+24204G=
c.456-3C= (n.456-3C=)
c.592-3C= (n.592-3C=)
c.628-3C= (n.628-3C=)
c.560-3C= (n.560-3C=)
n.755-3C=
c.715-3C= (n.715-3C=)
c.706-3C= (n.706-3C=)
c.670-3C= (n.670-3C=)
c.661-3C= (n.661-3C=)
c.637-3C= (n.637-3C=)
c.692-3C= (n.692-3C=)
c.683-3C= (n.683-3C=)
c.647-3C= (n.647-3C=)
c.640-3C= (n.640-3C=)
c.695-3C= (n.695-3C=)
c.686-3C= (n.686-3C=)
c.638-3C= (n.638-3C=)
c.617-3C= (n.617-3C=)
c.605-3C= (n.605-3C=)
n.678-3C=
17g.74695863G>ACA8749781CD300LF,RAB37c.583-4C>T (n.583-4C>T)
c.629-4C>T (n.629-4C>T)
c.72+24205G>A (n.72+24205G>A)
c.479-4C>T (n.479-4C>T)
c.614-4C>T (n.614-4C>T)
n.479+24205G>A
c.456-4C>T (n.456-4C>T)
c.592-4C>T (n.592-4C>T)
c.628-4C>T (n.628-4C>T)
c.560-4C>T (n.560-4C>T)
n.755-4C>T
c.715-4C>T (n.715-4C>T)
c.706-4C>T (n.706-4C>T)
c.670-4C>T (n.670-4C>T)
c.661-4C>T (n.661-4C>T)
c.637-4C>T (n.637-4C>T)
c.692-4C>T (n.692-4C>T)
c.683-4C>T (n.683-4C>T)
c.647-4C>T (n.647-4C>T)
c.640-4C>T (n.640-4C>T)
c.695-4C>T (n.695-4C>T)
c.686-4C>T (n.686-4C>T)
c.638-4C>T (n.638-4C>T)
c.617-4C>T (n.617-4C>T)
c.605-4C>T (n.605-4C>T)
n.678-4C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695863G=CA2275147056CD300LF,RAB37c.583-4C= (n.583-4C=)
c.629-4C= (n.629-4C=)
c.72+24205G= (n.72+24205G=)
c.479-4C= (n.479-4C=)
c.614-4C= (n.614-4C=)
n.479+24205G=
c.456-4C= (n.456-4C=)
c.592-4C= (n.592-4C=)
c.628-4C= (n.628-4C=)
c.560-4C= (n.560-4C=)
n.755-4C=
c.715-4C= (n.715-4C=)
c.706-4C= (n.706-4C=)
c.670-4C= (n.670-4C=)
c.661-4C= (n.661-4C=)
c.637-4C= (n.637-4C=)
c.692-4C= (n.692-4C=)
c.683-4C= (n.683-4C=)
c.647-4C= (n.647-4C=)
c.640-4C= (n.640-4C=)
c.695-4C= (n.695-4C=)
c.686-4C= (n.686-4C=)
c.638-4C= (n.638-4C=)
c.617-4C= (n.617-4C=)
c.605-4C= (n.605-4C=)
n.678-4C=
17g.74695864G>ACA8749782CD300LF,RAB37c.583-5C>T (n.583-5C>T)
c.629-5C>T (n.629-5C>T)
c.72+24206G>A (n.72+24206G>A)
c.479-5C>T (n.479-5C>T)
c.614-5C>T (n.614-5C>T)
n.479+24206G>A
c.456-5C>T (n.456-5C>T)
c.592-5C>T (n.592-5C>T)
c.628-5C>T (n.628-5C>T)
c.560-5C>T (n.560-5C>T)
n.755-5C>T
c.715-5C>T (n.715-5C>T)
c.706-5C>T (n.706-5C>T)
c.670-5C>T (n.670-5C>T)
c.661-5C>T (n.661-5C>T)
c.637-5C>T (n.637-5C>T)
c.692-5C>T (n.692-5C>T)
c.683-5C>T (n.683-5C>T)
c.647-5C>T (n.647-5C>T)
c.640-5C>T (n.640-5C>T)
c.695-5C>T (n.695-5C>T)
c.686-5C>T (n.686-5C>T)
c.638-5C>T (n.638-5C>T)
c.617-5C>T (n.617-5C>T)
c.605-5C>T (n.605-5C>T)
n.678-5C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695864G=CA2275147057CD300LF,RAB37c.583-5C= (n.583-5C=)
c.629-5C= (n.629-5C=)
c.72+24206G= (n.72+24206G=)
c.479-5C= (n.479-5C=)
c.614-5C= (n.614-5C=)
n.479+24206G=
c.456-5C= (n.456-5C=)
c.592-5C= (n.592-5C=)
c.628-5C= (n.628-5C=)
c.560-5C= (n.560-5C=)
n.755-5C=
c.715-5C= (n.715-5C=)
c.706-5C= (n.706-5C=)
c.670-5C= (n.670-5C=)
c.661-5C= (n.661-5C=)
c.637-5C= (n.637-5C=)
c.692-5C= (n.692-5C=)
c.683-5C= (n.683-5C=)
c.647-5C= (n.647-5C=)
c.640-5C= (n.640-5C=)
c.695-5C= (n.695-5C=)
c.686-5C= (n.686-5C=)
c.638-5C= (n.638-5C=)
c.617-5C= (n.617-5C=)
c.605-5C= (n.605-5C=)
n.678-5C=
17g.74695865A>CCA2639711897CD300LF,RAB37c.583-6T>G (n.583-6T>G)
c.629-6T>G (n.629-6T>G)
c.72+24207A>C (n.72+24207A>C)
c.479-6T>G (n.479-6T>G)
c.614-6T>G (n.614-6T>G)
n.479+24207A>C
c.456-6T>G (n.456-6T>G)
c.592-6T>G (n.592-6T>G)
c.628-6T>G (n.628-6T>G)
c.560-6T>G (n.560-6T>G)
n.755-6T>G
c.715-6T>G (n.715-6T>G)
c.706-6T>G (n.706-6T>G)
c.670-6T>G (n.670-6T>G)
c.661-6T>G (n.661-6T>G)
c.637-6T>G (n.637-6T>G)
c.692-6T>G (n.692-6T>G)
c.683-6T>G (n.683-6T>G)
c.647-6T>G (n.647-6T>G)
c.640-6T>G (n.640-6T>G)
c.695-6T>G (n.695-6T>G)
c.686-6T>G (n.686-6T>G)
c.638-6T>G (n.638-6T>G)
c.617-6T>G (n.617-6T>G)
c.605-6T>G (n.605-6T>G)
n.678-6T>G
 gnomAD v4
17g.74695867A=CA2275147058CD300LF,RAB37c.583-8T= (n.583-8T=)
c.629-8T= (n.629-8T=)
c.72+24209A= (n.72+24209A=)
c.479-8T= (n.479-8T=)
c.614-8T= (n.614-8T=)
n.479+24209A=
c.456-8T= (n.456-8T=)
c.592-8T= (n.592-8T=)
c.628-8T= (n.628-8T=)
c.560-8T= (n.560-8T=)
n.755-8T=
c.715-8T= (n.715-8T=)
c.706-8T= (n.706-8T=)
c.670-8T= (n.670-8T=)
c.661-8T= (n.661-8T=)
c.637-8T= (n.637-8T=)
c.692-8T= (n.692-8T=)
c.683-8T= (n.683-8T=)
c.647-8T= (n.647-8T=)
c.640-8T= (n.640-8T=)
c.695-8T= (n.695-8T=)
c.686-8T= (n.686-8T=)
c.638-8T= (n.638-8T=)
c.617-8T= (n.617-8T=)
c.605-8T= (n.605-8T=)
n.678-8T=
17g.74695867A>GCA627364292CD300LF,RAB37c.583-8T>C (n.583-8T>C)
c.629-8T>C (n.629-8T>C)
c.72+24209A>G (n.72+24209A>G)
c.479-8T>C (n.479-8T>C)
c.614-8T>C (n.614-8T>C)
n.479+24209A>G
c.456-8T>C (n.456-8T>C)
c.592-8T>C (n.592-8T>C)
c.628-8T>C (n.628-8T>C)
c.560-8T>C (n.560-8T>C)
n.755-8T>C
c.715-8T>C (n.715-8T>C)
c.706-8T>C (n.706-8T>C)
c.670-8T>C (n.670-8T>C)
c.661-8T>C (n.661-8T>C)
c.637-8T>C (n.637-8T>C)
c.692-8T>C (n.692-8T>C)
c.683-8T>C (n.683-8T>C)
c.647-8T>C (n.647-8T>C)
c.640-8T>C (n.640-8T>C)
c.695-8T>C (n.695-8T>C)
c.686-8T>C (n.686-8T>C)
c.638-8T>C (n.638-8T>C)
c.617-8T>C (n.617-8T>C)
c.605-8T>C (n.605-8T>C)
n.678-8T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695868G>ACA627364294CD300LF,RAB37c.583-9C>T (n.583-9C>T)
c.629-9C>T (n.629-9C>T)
c.72+24210G>A (n.72+24210G>A)
c.479-9C>T (n.479-9C>T)
c.614-9C>T (n.614-9C>T)
n.479+24210G>A
c.456-9C>T (n.456-9C>T)
c.592-9C>T (n.592-9C>T)
c.628-9C>T (n.628-9C>T)
c.560-9C>T (n.560-9C>T)
n.755-9C>T
c.715-9C>T (n.715-9C>T)
c.706-9C>T (n.706-9C>T)
c.670-9C>T (n.670-9C>T)
c.661-9C>T (n.661-9C>T)
c.637-9C>T (n.637-9C>T)
c.692-9C>T (n.692-9C>T)
c.683-9C>T (n.683-9C>T)
c.647-9C>T (n.647-9C>T)
c.640-9C>T (n.640-9C>T)
c.695-9C>T (n.695-9C>T)
c.686-9C>T (n.686-9C>T)
c.638-9C>T (n.638-9C>T)
c.617-9C>T (n.617-9C>T)
c.605-9C>T (n.605-9C>T)
n.678-9C>T
 dbSNP gnomAD v2 gnomAD v4
17g.74695868G=CA2275147059CD300LF,RAB37c.583-9C= (n.583-9C=)
c.629-9C= (n.629-9C=)
c.72+24210G= (n.72+24210G=)
c.479-9C= (n.479-9C=)
c.614-9C= (n.614-9C=)
n.479+24210G=
c.456-9C= (n.456-9C=)
c.592-9C= (n.592-9C=)
c.628-9C= (n.628-9C=)
c.560-9C= (n.560-9C=)
n.755-9C=
c.715-9C= (n.715-9C=)
c.706-9C= (n.706-9C=)
c.670-9C= (n.670-9C=)
c.661-9C= (n.661-9C=)
c.637-9C= (n.637-9C=)
c.692-9C= (n.692-9C=)
c.683-9C= (n.683-9C=)
c.647-9C= (n.647-9C=)
c.640-9C= (n.640-9C=)
c.695-9C= (n.695-9C=)
c.686-9C= (n.686-9C=)
c.638-9C= (n.638-9C=)
c.617-9C= (n.617-9C=)
c.605-9C= (n.605-9C=)
n.678-9C=
17g.74695869G>ACA8749783CD300LF,RAB37c.583-10C>T (n.583-10C>T)
c.629-10C>T (n.629-10C>T)
c.72+24211G>A (n.72+24211G>A)
c.479-10C>T (n.479-10C>T)
c.614-10C>T (n.614-10C>T)
n.479+24211G>A
c.456-10C>T (n.456-10C>T)
c.592-10C>T (n.592-10C>T)
c.628-10C>T (n.628-10C>T)
c.560-10C>T (n.560-10C>T)
n.755-10C>T
c.715-10C>T (n.715-10C>T)
c.706-10C>T (n.706-10C>T)
c.670-10C>T (n.670-10C>T)
c.661-10C>T (n.661-10C>T)
c.637-10C>T (n.637-10C>T)
c.692-10C>T (n.692-10C>T)
c.683-10C>T (n.683-10C>T)
c.647-10C>T (n.647-10C>T)
c.640-10C>T (n.640-10C>T)
c.695-10C>T (n.695-10C>T)
c.686-10C>T (n.686-10C>T)
c.638-10C>T (n.638-10C>T)
c.617-10C>T (n.617-10C>T)
c.605-10C>T (n.605-10C>T)
n.678-10C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695869G=CA2275147060CD300LF,RAB37c.583-10C= (n.583-10C=)
c.629-10C= (n.629-10C=)
c.72+24211G= (n.72+24211G=)
c.479-10C= (n.479-10C=)
c.614-10C= (n.614-10C=)
n.479+24211G=
c.456-10C= (n.456-10C=)
c.592-10C= (n.592-10C=)
c.628-10C= (n.628-10C=)
c.560-10C= (n.560-10C=)
n.755-10C=
c.715-10C= (n.715-10C=)
c.706-10C= (n.706-10C=)
c.670-10C= (n.670-10C=)
c.661-10C= (n.661-10C=)
c.637-10C= (n.637-10C=)
c.692-10C= (n.692-10C=)
c.683-10C= (n.683-10C=)
c.647-10C= (n.647-10C=)
c.640-10C= (n.640-10C=)
c.695-10C= (n.695-10C=)
c.686-10C= (n.686-10C=)
c.638-10C= (n.638-10C=)
c.617-10C= (n.617-10C=)
c.605-10C= (n.605-10C=)
n.678-10C=
17g.74695870G>ACA293928586CD300LF,RAB37c.583-11C>T (n.583-11C>T)
c.629-11C>T (n.629-11C>T)
c.72+24212G>A (n.72+24212G>A)
c.479-11C>T (n.479-11C>T)
c.614-11C>T (n.614-11C>T)
n.479+24212G>A
c.456-11C>T (n.456-11C>T)
c.592-11C>T (n.592-11C>T)
c.628-11C>T (n.628-11C>T)
c.560-11C>T (n.560-11C>T)
n.755-11C>T
c.715-11C>T (n.715-11C>T)
c.706-11C>T (n.706-11C>T)
c.670-11C>T (n.670-11C>T)
c.661-11C>T (n.661-11C>T)
c.637-11C>T (n.637-11C>T)
c.692-11C>T (n.692-11C>T)
c.683-11C>T (n.683-11C>T)
c.647-11C>T (n.647-11C>T)
c.640-11C>T (n.640-11C>T)
c.695-11C>T (n.695-11C>T)
c.686-11C>T (n.686-11C>T)
c.638-11C>T (n.638-11C>T)
c.617-11C>T (n.617-11C>T)
c.605-11C>T (n.605-11C>T)
n.678-11C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695870G>CCA627364299CD300LF,RAB37c.583-11C>G (n.583-11C>G)
c.629-11C>G (n.629-11C>G)
c.72+24212G>C (n.72+24212G>C)
c.479-11C>G (n.479-11C>G)
c.614-11C>G (n.614-11C>G)
n.479+24212G>C
c.456-11C>G (n.456-11C>G)
c.592-11C>G (n.592-11C>G)
c.628-11C>G (n.628-11C>G)
c.560-11C>G (n.560-11C>G)
n.755-11C>G
c.715-11C>G (n.715-11C>G)
c.706-11C>G (n.706-11C>G)
c.670-11C>G (n.670-11C>G)
c.661-11C>G (n.661-11C>G)
c.637-11C>G (n.637-11C>G)
c.692-11C>G (n.692-11C>G)
c.683-11C>G (n.683-11C>G)
c.647-11C>G (n.647-11C>G)
c.640-11C>G (n.640-11C>G)
c.695-11C>G (n.695-11C>G)
c.686-11C>G (n.686-11C>G)
c.638-11C>G (n.638-11C>G)
c.617-11C>G (n.617-11C>G)
c.605-11C>G (n.605-11C>G)
n.678-11C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695870G=CA2275147061CD300LF,RAB37c.583-11C= (n.583-11C=)
c.629-11C= (n.629-11C=)
c.72+24212G= (n.72+24212G=)
c.479-11C= (n.479-11C=)
c.614-11C= (n.614-11C=)
n.479+24212G=
c.456-11C= (n.456-11C=)
c.592-11C= (n.592-11C=)
c.628-11C= (n.628-11C=)
c.560-11C= (n.560-11C=)
n.755-11C=
c.715-11C= (n.715-11C=)
c.706-11C= (n.706-11C=)
c.670-11C= (n.670-11C=)
c.661-11C= (n.661-11C=)
c.637-11C= (n.637-11C=)
c.692-11C= (n.692-11C=)
c.683-11C= (n.683-11C=)
c.647-11C= (n.647-11C=)
c.640-11C= (n.640-11C=)
c.695-11C= (n.695-11C=)
c.686-11C= (n.686-11C=)
c.638-11C= (n.638-11C=)
c.617-11C= (n.617-11C=)
c.605-11C= (n.605-11C=)
n.678-11C=
17g.74695872A=CA2275147062CD300LF,RAB37c.583-13T= (n.583-13T=)
c.629-13T= (n.629-13T=)
c.72+24214A= (n.72+24214A=)
c.479-13T= (n.479-13T=)
c.614-13T= (n.614-13T=)
n.479+24214A=
c.456-13T= (n.456-13T=)
c.592-13T= (n.592-13T=)
c.628-13T= (n.628-13T=)
c.560-13T= (n.560-13T=)
n.755-13T=
c.715-13T= (n.715-13T=)
c.706-13T= (n.706-13T=)
c.670-13T= (n.670-13T=)
c.661-13T= (n.661-13T=)
c.637-13T= (n.637-13T=)
c.692-13T= (n.692-13T=)
c.683-13T= (n.683-13T=)
c.647-13T= (n.647-13T=)
c.640-13T= (n.640-13T=)
c.695-13T= (n.695-13T=)
c.686-13T= (n.686-13T=)
c.638-13T= (n.638-13T=)
c.617-13T= (n.617-13T=)
c.605-13T= (n.605-13T=)
n.678-13T=
17g.74695872A>TCA8749784CD300LF,RAB37c.583-13T>A (n.583-13T>A)
c.629-13T>A (n.629-13T>A)
c.72+24214A>T (n.72+24214A>T)
c.479-13T>A (n.479-13T>A)
c.614-13T>A (n.614-13T>A)
n.479+24214A>T
c.456-13T>A (n.456-13T>A)
c.592-13T>A (n.592-13T>A)
c.628-13T>A (n.628-13T>A)
c.560-13T>A (n.560-13T>A)
n.755-13T>A
c.715-13T>A (n.715-13T>A)
c.706-13T>A (n.706-13T>A)
c.670-13T>A (n.670-13T>A)
c.661-13T>A (n.661-13T>A)
c.637-13T>A (n.637-13T>A)
c.692-13T>A (n.692-13T>A)
c.683-13T>A (n.683-13T>A)
c.647-13T>A (n.647-13T>A)
c.640-13T>A (n.640-13T>A)
c.695-13T>A (n.695-13T>A)
c.686-13T>A (n.686-13T>A)
c.638-13T>A (n.638-13T>A)
c.617-13T>A (n.617-13T>A)
c.605-13T>A (n.605-13T>A)
n.678-13T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695875C>TCA2639711898CD300LF,RAB37c.583-16G>A (n.583-16G>A)
c.629-16G>A (n.629-16G>A)
c.72+24217C>T (n.72+24217C>T)
c.479-16G>A (n.479-16G>A)
c.614-16G>A (n.614-16G>A)
n.479+24217C>T
c.456-16G>A (n.456-16G>A)
c.592-16G>A (n.592-16G>A)
c.628-16G>A (n.628-16G>A)
c.560-16G>A (n.560-16G>A)
n.755-16G>A
c.715-16G>A (n.715-16G>A)
c.706-16G>A (n.706-16G>A)
c.670-16G>A (n.670-16G>A)
c.661-16G>A (n.661-16G>A)
c.637-16G>A (n.637-16G>A)
c.692-16G>A (n.692-16G>A)
c.683-16G>A (n.683-16G>A)
c.647-16G>A (n.647-16G>A)
c.640-16G>A (n.640-16G>A)
c.695-16G>A (n.695-16G>A)
c.686-16G>A (n.686-16G>A)
c.638-16G>A (n.638-16G>A)
c.617-16G>A (n.617-16G>A)
c.605-16G>A (n.605-16G>A)
n.678-16G>A
 gnomAD v4
17g.74695877G>ACA2639711899CD300LF,RAB37c.583-18C>T (n.583-18C>T)
c.629-18C>T (n.629-18C>T)
c.72+24219G>A (n.72+24219G>A)
c.479-18C>T (n.479-18C>T)
c.614-18C>T (n.614-18C>T)
n.479+24219G>A
c.456-18C>T (n.456-18C>T)
c.592-18C>T (n.592-18C>T)
c.628-18C>T (n.628-18C>T)
c.560-18C>T (n.560-18C>T)
n.755-18C>T
c.715-18C>T (n.715-18C>T)
c.706-18C>T (n.706-18C>T)
c.670-18C>T (n.670-18C>T)
c.661-18C>T (n.661-18C>T)
c.637-18C>T (n.637-18C>T)
c.692-18C>T (n.692-18C>T)
c.683-18C>T (n.683-18C>T)
c.647-18C>T (n.647-18C>T)
c.640-18C>T (n.640-18C>T)
c.695-18C>T (n.695-18C>T)
c.686-18C>T (n.686-18C>T)
c.638-18C>T (n.638-18C>T)
c.617-18C>T (n.617-18C>T)
c.605-18C>T (n.605-18C>T)
n.678-18C>T
 gnomAD v4
17g.74695878G>ACA627364300CD300LF,RAB37c.583-19C>T (n.583-19C>T)
c.629-19C>T (n.629-19C>T)
c.72+24220G>A (n.72+24220G>A)
c.479-19C>T (n.479-19C>T)
c.614-19C>T (n.614-19C>T)
n.479+24220G>A
c.456-19C>T (n.456-19C>T)
c.592-19C>T (n.592-19C>T)
c.628-19C>T (n.628-19C>T)
c.560-19C>T (n.560-19C>T)
n.755-19C>T
c.715-19C>T (n.715-19C>T)
c.706-19C>T (n.706-19C>T)
c.670-19C>T (n.670-19C>T)
c.661-19C>T (n.661-19C>T)
c.637-19C>T (n.637-19C>T)
c.692-19C>T (n.692-19C>T)
c.683-19C>T (n.683-19C>T)
c.647-19C>T (n.647-19C>T)
c.640-19C>T (n.640-19C>T)
c.695-19C>T (n.695-19C>T)
c.686-19C>T (n.686-19C>T)
c.638-19C>T (n.638-19C>T)
c.617-19C>T (n.617-19C>T)
c.605-19C>T (n.605-19C>T)
n.678-19C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695878G=CA2275147063CD300LF,RAB37c.583-19C= (n.583-19C=)
c.629-19C= (n.629-19C=)
c.72+24220G= (n.72+24220G=)
c.479-19C= (n.479-19C=)
c.614-19C= (n.614-19C=)
n.479+24220G=
c.456-19C= (n.456-19C=)
c.592-19C= (n.592-19C=)
c.628-19C= (n.628-19C=)
c.560-19C= (n.560-19C=)
n.755-19C=
c.715-19C= (n.715-19C=)
c.706-19C= (n.706-19C=)
c.670-19C= (n.670-19C=)
c.661-19C= (n.661-19C=)
c.637-19C= (n.637-19C=)
c.692-19C= (n.692-19C=)
c.683-19C= (n.683-19C=)
c.647-19C= (n.647-19C=)
c.640-19C= (n.640-19C=)
c.695-19C= (n.695-19C=)
c.686-19C= (n.686-19C=)
c.638-19C= (n.638-19C=)
c.617-19C= (n.617-19C=)
c.605-19C= (n.605-19C=)
n.678-19C=
17g.74695878G>TCA2810416964CD300LF,RAB37c.583-19C>A (n.583-19C>A)
c.629-19C>A (n.629-19C>A)
c.72+24220G>T (n.72+24220G>T)
c.479-19C>A (n.479-19C>A)
c.614-19C>A (n.614-19C>A)
n.479+24220G>T
c.456-19C>A (n.456-19C>A)
c.592-19C>A (n.592-19C>A)
c.628-19C>A (n.628-19C>A)
c.560-19C>A (n.560-19C>A)
n.755-19C>A
c.715-19C>A (n.715-19C>A)
c.706-19C>A (n.706-19C>A)
c.670-19C>A (n.670-19C>A)
c.661-19C>A (n.661-19C>A)
c.637-19C>A (n.637-19C>A)
c.692-19C>A (n.692-19C>A)
c.683-19C>A (n.683-19C>A)
c.647-19C>A (n.647-19C>A)
c.640-19C>A (n.640-19C>A)
c.695-19C>A (n.695-19C>A)
c.686-19C>A (n.686-19C>A)
c.638-19C>A (n.638-19C>A)
c.617-19C>A (n.617-19C>A)
c.605-19C>A (n.605-19C>A)
n.678-19C>A
17g.74695882G>ACA627364301CD300LF,RAB37c.583-23C>T (n.583-23C>T)
c.629-23C>T (n.629-23C>T)
c.72+24224G>A (n.72+24224G>A)
c.479-23C>T (n.479-23C>T)
c.614-23C>T (n.614-23C>T)
n.479+24224G>A
c.456-23C>T (n.456-23C>T)
c.592-23C>T (n.592-23C>T)
c.628-23C>T (n.628-23C>T)
c.560-23C>T (n.560-23C>T)
n.755-23C>T
c.715-23C>T (n.715-23C>T)
c.706-23C>T (n.706-23C>T)
c.670-23C>T (n.670-23C>T)
c.661-23C>T (n.661-23C>T)
c.637-23C>T (n.637-23C>T)
c.692-23C>T (n.692-23C>T)
c.683-23C>T (n.683-23C>T)
c.647-23C>T (n.647-23C>T)
c.640-23C>T (n.640-23C>T)
c.695-23C>T (n.695-23C>T)
c.686-23C>T (n.686-23C>T)
c.638-23C>T (n.638-23C>T)
c.617-23C>T (n.617-23C>T)
c.605-23C>T (n.605-23C>T)
n.678-23C>T
 dbSNP gnomAD v2 gnomAD v4
17g.74695882G>CCA2275147065CD300LF,RAB37c.583-23C>G (n.583-23C>G)
c.629-23C>G (n.629-23C>G)
c.72+24224G>C (n.72+24224G>C)
c.479-23C>G (n.479-23C>G)
c.614-23C>G (n.614-23C>G)
n.479+24224G>C
c.456-23C>G (n.456-23C>G)
c.592-23C>G (n.592-23C>G)
c.628-23C>G (n.628-23C>G)
c.560-23C>G (n.560-23C>G)
n.755-23C>G
c.715-23C>G (n.715-23C>G)
c.706-23C>G (n.706-23C>G)
c.670-23C>G (n.670-23C>G)
c.661-23C>G (n.661-23C>G)
c.637-23C>G (n.637-23C>G)
c.692-23C>G (n.692-23C>G)
c.683-23C>G (n.683-23C>G)
c.647-23C>G (n.647-23C>G)
c.640-23C>G (n.640-23C>G)
c.695-23C>G (n.695-23C>G)
c.686-23C>G (n.686-23C>G)
c.638-23C>G (n.638-23C>G)
c.617-23C>G (n.617-23C>G)
c.605-23C>G (n.605-23C>G)
n.678-23C>G
 dbSNP gnomAD v4
17g.74695882G=CA2275147064CD300LF,RAB37c.583-23C= (n.583-23C=)
c.629-23C= (n.629-23C=)
c.72+24224G= (n.72+24224G=)
c.479-23C= (n.479-23C=)
c.614-23C= (n.614-23C=)
n.479+24224G=
c.456-23C= (n.456-23C=)
c.592-23C= (n.592-23C=)
c.628-23C= (n.628-23C=)
c.560-23C= (n.560-23C=)
n.755-23C=
c.715-23C= (n.715-23C=)
c.706-23C= (n.706-23C=)
c.670-23C= (n.670-23C=)
c.661-23C= (n.661-23C=)
c.637-23C= (n.637-23C=)
c.692-23C= (n.692-23C=)
c.683-23C= (n.683-23C=)
c.647-23C= (n.647-23C=)
c.640-23C= (n.640-23C=)
c.695-23C= (n.695-23C=)
c.686-23C= (n.686-23C=)
c.638-23C= (n.638-23C=)
c.617-23C= (n.617-23C=)
c.605-23C= (n.605-23C=)
n.678-23C=
17g.74695883G>ACA2639711900CD300LF,RAB37c.583-24C>T (n.583-24C>T)
c.629-24C>T (n.629-24C>T)
c.72+24225G>A (n.72+24225G>A)
c.479-24C>T (n.479-24C>T)
c.614-24C>T (n.614-24C>T)
n.479+24225G>A
c.456-24C>T (n.456-24C>T)
c.592-24C>T (n.592-24C>T)
c.628-24C>T (n.628-24C>T)
c.560-24C>T (n.560-24C>T)
n.755-24C>T
c.715-24C>T (n.715-24C>T)
c.706-24C>T (n.706-24C>T)
c.670-24C>T (n.670-24C>T)
c.661-24C>T (n.661-24C>T)
c.637-24C>T (n.637-24C>T)
c.692-24C>T (n.692-24C>T)
c.683-24C>T (n.683-24C>T)
c.647-24C>T (n.647-24C>T)
c.640-24C>T (n.640-24C>T)
c.695-24C>T (n.695-24C>T)
c.686-24C>T (n.686-24C>T)
c.638-24C>T (n.638-24C>T)
c.617-24C>T (n.617-24C>T)
c.605-24C>T (n.605-24C>T)
n.678-24C>T
 gnomAD v4
17g.74695883G>TCA2639711901CD300LF,RAB37c.583-24C>A (n.583-24C>A)
c.629-24C>A (n.629-24C>A)
c.72+24225G>T (n.72+24225G>T)
c.479-24C>A (n.479-24C>A)
c.614-24C>A (n.614-24C>A)
n.479+24225G>T
c.456-24C>A (n.456-24C>A)
c.592-24C>A (n.592-24C>A)
c.628-24C>A (n.628-24C>A)
c.560-24C>A (n.560-24C>A)
n.755-24C>A
c.715-24C>A (n.715-24C>A)
c.706-24C>A (n.706-24C>A)
c.670-24C>A (n.670-24C>A)
c.661-24C>A (n.661-24C>A)
c.637-24C>A (n.637-24C>A)
c.692-24C>A (n.692-24C>A)
c.683-24C>A (n.683-24C>A)
c.647-24C>A (n.647-24C>A)
c.640-24C>A (n.640-24C>A)
c.695-24C>A (n.695-24C>A)
c.686-24C>A (n.686-24C>A)
c.638-24C>A (n.638-24C>A)
c.617-24C>A (n.617-24C>A)
c.605-24C>A (n.605-24C>A)
n.678-24C>A
 gnomAD v4
17g.74695884G>CCA627364303CD300LF,RAB37c.583-25C>G (n.583-25C>G)
c.629-25C>G (n.629-25C>G)
c.72+24226G>C (n.72+24226G>C)
c.479-25C>G (n.479-25C>G)
c.614-25C>G (n.614-25C>G)
n.479+24226G>C
c.456-25C>G (n.456-25C>G)
c.592-25C>G (n.592-25C>G)
c.628-25C>G (n.628-25C>G)
c.560-25C>G (n.560-25C>G)
n.755-25C>G
c.715-25C>G (n.715-25C>G)
c.706-25C>G (n.706-25C>G)
c.670-25C>G (n.670-25C>G)
c.661-25C>G (n.661-25C>G)
c.637-25C>G (n.637-25C>G)
c.692-25C>G (n.692-25C>G)
c.683-25C>G (n.683-25C>G)
c.647-25C>G (n.647-25C>G)
c.640-25C>G (n.640-25C>G)
c.695-25C>G (n.695-25C>G)
c.686-25C>G (n.686-25C>G)
c.638-25C>G (n.638-25C>G)
c.617-25C>G (n.617-25C>G)
c.605-25C>G (n.605-25C>G)
n.678-25C>G
 dbSNP gnomAD v2 gnomAD v4
17g.74695884G=CA2275147066CD300LF,RAB37c.583-25C= (n.583-25C=)
c.629-25C= (n.629-25C=)
c.72+24226G= (n.72+24226G=)
c.479-25C= (n.479-25C=)
c.614-25C= (n.614-25C=)
n.479+24226G=
c.456-25C= (n.456-25C=)
c.592-25C= (n.592-25C=)
c.628-25C= (n.628-25C=)
c.560-25C= (n.560-25C=)
n.755-25C=
c.715-25C= (n.715-25C=)
c.706-25C= (n.706-25C=)
c.670-25C= (n.670-25C=)
c.661-25C= (n.661-25C=)
c.637-25C= (n.637-25C=)
c.692-25C= (n.692-25C=)
c.683-25C= (n.683-25C=)
c.647-25C= (n.647-25C=)
c.640-25C= (n.640-25C=)
c.695-25C= (n.695-25C=)
c.686-25C= (n.686-25C=)
c.638-25C= (n.638-25C=)
c.617-25C= (n.617-25C=)
c.605-25C= (n.605-25C=)
n.678-25C=
17g.74695884G>TCA2639711902CD300LF,RAB37c.583-25C>A (n.583-25C>A)
c.629-25C>A (n.629-25C>A)
c.72+24226G>T (n.72+24226G>T)
c.479-25C>A (n.479-25C>A)
c.614-25C>A (n.614-25C>A)
n.479+24226G>T
c.456-25C>A (n.456-25C>A)
c.592-25C>A (n.592-25C>A)
c.628-25C>A (n.628-25C>A)
c.560-25C>A (n.560-25C>A)
n.755-25C>A
c.715-25C>A (n.715-25C>A)
c.706-25C>A (n.706-25C>A)
c.670-25C>A (n.670-25C>A)
c.661-25C>A (n.661-25C>A)
c.637-25C>A (n.637-25C>A)
c.692-25C>A (n.692-25C>A)
c.683-25C>A (n.683-25C>A)
c.647-25C>A (n.647-25C>A)
c.640-25C>A (n.640-25C>A)
c.695-25C>A (n.695-25C>A)
c.686-25C>A (n.686-25C>A)
c.638-25C>A (n.638-25C>A)
c.617-25C>A (n.617-25C>A)
c.605-25C>A (n.605-25C>A)
n.678-25C>A
 gnomAD v4
17g.74695885A>GCA2639711903CD300LF,RAB37c.583-26T>C (n.583-26T>C)
c.629-26T>C (n.629-26T>C)
c.72+24227A>G (n.72+24227A>G)
c.479-26T>C (n.479-26T>C)
c.614-26T>C (n.614-26T>C)
n.479+24227A>G
c.456-26T>C (n.456-26T>C)
c.592-26T>C (n.592-26T>C)
c.628-26T>C (n.628-26T>C)
c.560-26T>C (n.560-26T>C)
n.755-26T>C
c.715-26T>C (n.715-26T>C)
c.706-26T>C (n.706-26T>C)
c.670-26T>C (n.670-26T>C)
c.661-26T>C (n.661-26T>C)
c.637-26T>C (n.637-26T>C)
c.692-26T>C (n.692-26T>C)
c.683-26T>C (n.683-26T>C)
c.647-26T>C (n.647-26T>C)
c.640-26T>C (n.640-26T>C)
c.695-26T>C (n.695-26T>C)
c.686-26T>C (n.686-26T>C)
c.638-26T>C (n.638-26T>C)
c.617-26T>C (n.617-26T>C)
c.605-26T>C (n.605-26T>C)
n.678-26T>C
 gnomAD v4
17g.74695885A>TCA656874629CD300LF,RAB37c.583-26T>A (n.583-26T>A)
c.629-26T>A (n.629-26T>A)
c.72+24227A>T (n.72+24227A>T)
c.479-26T>A (n.479-26T>A)
c.614-26T>A (n.614-26T>A)
n.479+24227A>T
c.456-26T>A (n.456-26T>A)
c.592-26T>A (n.592-26T>A)
c.628-26T>A (n.628-26T>A)
c.560-26T>A (n.560-26T>A)
n.755-26T>A
c.715-26T>A (n.715-26T>A)
c.706-26T>A (n.706-26T>A)
c.670-26T>A (n.670-26T>A)
c.661-26T>A (n.661-26T>A)
c.637-26T>A (n.637-26T>A)
c.692-26T>A (n.692-26T>A)
c.683-26T>A (n.683-26T>A)
c.647-26T>A (n.647-26T>A)
c.640-26T>A (n.640-26T>A)
c.695-26T>A (n.695-26T>A)
c.686-26T>A (n.686-26T>A)
c.638-26T>A (n.638-26T>A)
c.617-26T>A (n.617-26T>A)
c.605-26T>A (n.605-26T>A)
n.678-26T>A
 COSMIC
17g.74695887T>CCA2810416965CD300LF,RAB37c.583-28A>G (n.583-28A>G)
c.629-28A>G (n.629-28A>G)
c.72+24229T>C (n.72+24229T>C)
c.479-28A>G (n.479-28A>G)
c.614-28A>G (n.614-28A>G)
n.479+24229T>C
c.456-28A>G (n.456-28A>G)
c.592-28A>G (n.592-28A>G)
c.628-28A>G (n.628-28A>G)
c.560-28A>G (n.560-28A>G)
n.755-28A>G
c.715-28A>G (n.715-28A>G)
c.706-28A>G (n.706-28A>G)
c.670-28A>G (n.670-28A>G)
c.661-28A>G (n.661-28A>G)
c.637-28A>G (n.637-28A>G)
c.692-28A>G (n.692-28A>G)
c.683-28A>G (n.683-28A>G)
c.647-28A>G (n.647-28A>G)
c.640-28A>G (n.640-28A>G)
c.695-28A>G (n.695-28A>G)
c.686-28A>G (n.686-28A>G)
c.638-28A>G (n.638-28A>G)
c.617-28A>G (n.617-28A>G)
c.605-28A>G (n.605-28A>G)
n.678-28A>G
17g.74695887T>GCA2275147067CD300LF,RAB37c.583-28A>C (n.583-28A>C)
c.629-28A>C (n.629-28A>C)
c.72+24229T>G (n.72+24229T>G)
c.479-28A>C (n.479-28A>C)
c.614-28A>C (n.614-28A>C)
n.479+24229T>G
c.456-28A>C (n.456-28A>C)
c.592-28A>C (n.592-28A>C)
c.628-28A>C (n.628-28A>C)
c.560-28A>C (n.560-28A>C)
n.755-28A>C
c.715-28A>C (n.715-28A>C)
c.706-28A>C (n.706-28A>C)
c.670-28A>C (n.670-28A>C)
c.661-28A>C (n.661-28A>C)
c.637-28A>C (n.637-28A>C)
c.692-28A>C (n.692-28A>C)
c.683-28A>C (n.683-28A>C)
c.647-28A>C (n.647-28A>C)
c.640-28A>C (n.640-28A>C)
c.695-28A>C (n.695-28A>C)
c.686-28A>C (n.686-28A>C)
c.638-28A>C (n.638-28A>C)
c.617-28A>C (n.617-28A>C)
c.605-28A>C (n.605-28A>C)
n.678-28A>C
 dbSNP
17g.74695887T=CA2275147068CD300LF,RAB37c.583-28A= (n.583-28A=)
c.629-28A= (n.629-28A=)
c.72+24229T= (n.72+24229T=)
c.479-28A= (n.479-28A=)
c.614-28A= (n.614-28A=)
n.479+24229T=
c.456-28A= (n.456-28A=)
c.592-28A= (n.592-28A=)
c.628-28A= (n.628-28A=)
c.560-28A= (n.560-28A=)
n.755-28A=
c.715-28A= (n.715-28A=)
c.706-28A= (n.706-28A=)
c.670-28A= (n.670-28A=)
c.661-28A= (n.661-28A=)
c.637-28A= (n.637-28A=)
c.692-28A= (n.692-28A=)
c.683-28A= (n.683-28A=)
c.647-28A= (n.647-28A=)
c.640-28A= (n.640-28A=)
c.695-28A= (n.695-28A=)
c.686-28A= (n.686-28A=)
c.638-28A= (n.638-28A=)
c.617-28A= (n.617-28A=)
c.605-28A= (n.605-28A=)
n.678-28A=
17g.74695892_74695910delCA2639711904CD300LF,RAB37c.583-47_583-29del (n.583-47_583-29del)
c.629-47_629-29del (n.629-47_629-29del)
c.72+24234_72+24252del (n.72+24234_72+24252del)
c.479-47_479-29del (n.479-47_479-29del)
c.614-47_614-29del (n.614-47_614-29del)
n.479+24234_479+24252del
c.456-47_456-29del (n.456-47_456-29del)
c.592-47_592-29del (n.592-47_592-29del)
c.628-47_628-29del (n.628-47_628-29del)
c.560-47_560-29del (n.560-47_560-29del)
n.755-47_755-29del
c.715-47_715-29del (n.715-47_715-29del)
c.706-47_706-29del (n.706-47_706-29del)
c.670-47_670-29del (n.670-47_670-29del)
c.661-47_661-29del (n.661-47_661-29del)
c.637-47_637-29del (n.637-47_637-29del)
c.692-47_692-29del (n.692-47_692-29del)
c.683-47_683-29del (n.683-47_683-29del)
c.647-47_647-29del (n.647-47_647-29del)
c.640-47_640-29del (n.640-47_640-29del)
c.695-47_695-29del (n.695-47_695-29del)
c.686-47_686-29del (n.686-47_686-29del)
c.638-47_638-29del (n.638-47_638-29del)
c.617-47_617-29del (n.617-47_617-29del)
c.605-47_605-29del (n.605-47_605-29del)
n.678-47_678-29del
 gnomAD v4

Number of alleles fetched