Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74695742C>ACA400934927CD300LF,RAB37c.700G>T (p.Val234Leu)
c.*11G>T (n.*11G>T)
c.72+24084C>A (n.72+24084C>A)
c.596G>T (n.596G>T)
c.731G>T (n.731G>T)
n.479+24084C>A
c.*75G>T (n.*75G>T)
c.709G>T (p.Val237Leu)
c.745G>T (p.Val249Leu)
n.872G>T
c.832G>T (p.Val278Leu)
c.823G>T (p.Val275Leu)
c.787G>T (p.Val263Leu)
c.778G>T (p.Val260Leu)
c.754G>T (p.Val252Leu)
c.757G>T (p.Val253Leu)
n.795G>T
17g.74695742C=CA2275146990CD300LF,RAB37c.700G= (p.Val234=)
c.*11G= (n.*11G=)
c.72+24084C= (n.72+24084C=)
c.596G= (n.596G=)
c.731G= (n.731G=)
n.479+24084C=
c.*75G= (n.*75G=)
c.709G= (p.Val237=)
c.745G= (p.Val249=)
n.872G=
c.832G= (p.Val278=)
c.823G= (p.Val275=)
c.787G= (p.Val263=)
c.778G= (p.Val260=)
c.754G= (p.Val252=)
c.757G= (p.Val253=)
n.795G=
17g.74695742C>GCA400934929CD300LF,RAB37c.700G>C (p.Val234Leu)
c.*11G>C (n.*11G>C)
c.72+24084C>G (n.72+24084C>G)
c.596G>C (n.596G>C)
c.731G>C (n.731G>C)
n.479+24084C>G
c.*75G>C (n.*75G>C)
c.709G>C (p.Val237Leu)
c.745G>C (p.Val249Leu)
n.872G>C
c.832G>C (p.Val278Leu)
c.823G>C (p.Val275Leu)
c.787G>C (p.Val263Leu)
c.778G>C (p.Val260Leu)
c.754G>C (p.Val252Leu)
c.757G>C (p.Val253Leu)
n.795G>C
17g.74695742C>TCA400934930CD300LF,RAB37c.700G>A (p.Val234Met)
c.*11G>A (n.*11G>A)
c.72+24084C>T (n.72+24084C>T)
c.596G>A (n.596G>A)
c.731G>A (n.731G>A)
n.479+24084C>T
c.*75G>A (n.*75G>A)
c.709G>A (p.Val237Met)
c.745G>A (p.Val249Met)
n.872G>A
c.832G>A (p.Val278Met)
c.823G>A (p.Val275Met)
c.787G>A (p.Val263Met)
c.778G>A (p.Val260Met)
c.754G>A (p.Val252Met)
c.757G>A (p.Val253Met)
n.795G>A
 dbSNP gnomAD v2 gnomAD v4
17g.74695743T>ACA400934932CD300LF,RAB37c.699A>T (p.Glu233Asp)
c.*10A>T (n.*10A>T)
c.72+24085T>A (n.72+24085T>A)
c.595A>T (n.595A>T)
c.730A>T (n.730A>T)
n.479+24085T>A
c.*74A>T (n.*74A>T)
c.708A>T (p.Glu236Asp)
c.744A>T (p.Glu248Asp)
n.871A>T
c.831A>T (p.Glu277Asp)
c.822A>T (p.Glu274Asp)
c.786A>T (p.Glu262Asp)
c.777A>T (p.Glu259Asp)
c.753A>T (p.Glu251Asp)
c.756A>T (p.Glu252Asp)
n.794A>T
17g.74695743T>CCA501745339CD300LF,RAB37c.699A>G (p.Glu233=)
c.*10A>G (n.*10A>G)
c.72+24085T>C (n.72+24085T>C)
c.595A>G (n.595A>G)
c.730A>G (n.730A>G)
n.479+24085T>C
c.*74A>G (n.*74A>G)
c.708A>G (p.Glu236=)
c.744A>G (p.Glu248=)
n.871A>G
c.831A>G (p.Glu277=)
c.822A>G (p.Glu274=)
c.786A>G (p.Glu262=)
c.777A>G (p.Glu259=)
c.753A>G (p.Glu251=)
c.756A>G (p.Glu252=)
n.794A>G
17g.74695743T>GCA400934934CD300LF,RAB37c.699A>C (p.Glu233Asp)
c.*10A>C (n.*10A>C)
c.72+24085T>G (n.72+24085T>G)
c.595A>C (n.595A>C)
c.730A>C (n.730A>C)
n.479+24085T>G
c.*74A>C (n.*74A>C)
c.708A>C (p.Glu236Asp)
c.744A>C (p.Glu248Asp)
n.871A>C
c.831A>C (p.Glu277Asp)
c.822A>C (p.Glu274Asp)
c.786A>C (p.Glu262Asp)
c.777A>C (p.Glu259Asp)
c.753A>C (p.Glu251Asp)
c.756A>C (p.Glu252Asp)
n.794A>C
17g.74695744T>ACA400934936CD300LF,RAB37c.698A>T (p.Glu233Val)
c.*9A>T (n.*9A>T)
c.72+24086T>A (n.72+24086T>A)
c.594A>T (n.594A>T)
c.729A>T (n.729A>T)
n.479+24086T>A
c.*73A>T (n.*73A>T)
c.707A>T (p.Glu236Val)
c.743A>T (p.Glu248Val)
n.870A>T
c.830A>T (p.Glu277Val)
c.821A>T (p.Glu274Val)
c.785A>T (p.Glu262Val)
c.776A>T (p.Glu259Val)
c.752A>T (p.Glu251Val)
c.755A>T (p.Glu252Val)
n.793A>T
17g.74695744T>CCA400934938CD300LF,RAB37c.698A>G (p.Glu233Gly)
c.*9A>G (n.*9A>G)
c.72+24086T>C (n.72+24086T>C)
c.594A>G (n.594A>G)
c.729A>G (n.729A>G)
n.479+24086T>C
c.*73A>G (n.*73A>G)
c.707A>G (p.Glu236Gly)
c.743A>G (p.Glu248Gly)
n.870A>G
c.830A>G (p.Glu277Gly)
c.821A>G (p.Glu274Gly)
c.785A>G (p.Glu262Gly)
c.776A>G (p.Glu259Gly)
c.752A>G (p.Glu251Gly)
c.755A>G (p.Glu252Gly)
n.793A>G
 dbSNP gnomAD v4
17g.74695744T>GCA400934940CD300LF,RAB37c.698A>C (p.Glu233Ala)
c.*9A>C (n.*9A>C)
c.72+24086T>G (n.72+24086T>G)
c.594A>C (n.594A>C)
c.729A>C (n.729A>C)
n.479+24086T>G
c.*73A>C (n.*73A>C)
c.707A>C (p.Glu236Ala)
c.743A>C (p.Glu248Ala)
n.870A>C
c.830A>C (p.Glu277Ala)
c.821A>C (p.Glu274Ala)
c.785A>C (p.Glu262Ala)
c.776A>C (p.Glu259Ala)
c.752A>C (p.Glu251Ala)
c.755A>C (p.Glu252Ala)
n.793A>C
17g.74695744T=CA2275146991CD300LF,RAB37c.698A= (p.Glu233=)
c.*9A= (n.*9A=)
c.72+24086T= (n.72+24086T=)
c.594A= (n.594A=)
c.729A= (n.729A=)
n.479+24086T=
c.*73A= (n.*73A=)
c.707A= (p.Glu236=)
c.743A= (p.Glu248=)
n.870A=
c.830A= (p.Glu277=)
c.821A= (p.Glu274=)
c.785A= (p.Glu262=)
c.776A= (p.Glu259=)
c.752A= (p.Glu251=)
c.755A= (p.Glu252=)
n.793A=
17g.74695745C>ACA400934941CD300LF,RAB37c.697G>T (p.Glu233Ter)
c.*8G>T (n.*8G>T)
c.72+24087C>A (n.72+24087C>A)
c.593G>T (n.593G>T)
c.728G>T (n.728G>T)
n.479+24087C>A
c.*72G>T (n.*72G>T)
c.706G>T (p.Glu236Ter)
c.742G>T (p.Glu248Ter)
n.869G>T
c.829G>T (p.Glu277Ter)
c.820G>T (p.Glu274Ter)
c.784G>T (p.Glu262Ter)
c.775G>T (p.Glu259Ter)
c.751G>T (p.Glu251Ter)
c.754G>T (p.Glu252Ter)
n.792G>T
17g.74695745C>GCA400934943CD300LF,RAB37c.697G>C (p.Glu233Gln)
c.*8G>C (n.*8G>C)
c.72+24087C>G (n.72+24087C>G)
c.593G>C (n.593G>C)
c.728G>C (n.728G>C)
n.479+24087C>G
c.*72G>C (n.*72G>C)
c.706G>C (p.Glu236Gln)
c.742G>C (p.Glu248Gln)
n.869G>C
c.829G>C (p.Glu277Gln)
c.820G>C (p.Glu274Gln)
c.784G>C (p.Glu262Gln)
c.775G>C (p.Glu259Gln)
c.751G>C (p.Glu251Gln)
c.754G>C (p.Glu252Gln)
n.792G>C
17g.74695745C>TCA400934944CD300LF,RAB37c.697G>A (p.Glu233Lys)
c.*8G>A (n.*8G>A)
c.72+24087C>T (n.72+24087C>T)
c.593G>A (n.593G>A)
c.728G>A (n.728G>A)
n.479+24087C>T
c.*72G>A (n.*72G>A)
c.706G>A (p.Glu236Lys)
c.742G>A (p.Glu248Lys)
n.869G>A
c.829G>A (p.Glu277Lys)
c.820G>A (p.Glu274Lys)
c.784G>A (p.Glu262Lys)
c.775G>A (p.Glu259Lys)
c.751G>A (p.Glu251Lys)
c.754G>A (p.Glu252Lys)
n.792G>A
17g.74695746C>ACA501745340CD300LF,RAB37c.696G>T (p.Val232=)
c.*7G>T (n.*7G>T)
c.72+24088C>A (n.72+24088C>A)
c.592G>T (n.592G>T)
c.727G>T (n.727G>T)
n.479+24088C>A
c.*71G>T (n.*71G>T)
c.705G>T (p.Val235=)
c.741G>T (p.Val247=)
n.868G>T
c.828G>T (p.Val276=)
c.819G>T (p.Val273=)
c.783G>T (p.Val261=)
c.774G>T (p.Val258=)
c.750G>T (p.Val250=)
c.753G>T (p.Val251=)
n.791G>T
17g.74695746C=CA2275146992CD300LF,RAB37c.696G= (p.Val232=)
c.*7G= (n.*7G=)
c.72+24088C= (n.72+24088C=)
c.592G= (n.592G=)
c.727G= (n.727G=)
n.479+24088C=
c.*71G= (n.*71G=)
c.705G= (p.Val235=)
c.741G= (p.Val247=)
n.868G=
c.828G= (p.Val276=)
c.819G= (p.Val273=)
c.783G= (p.Val261=)
c.774G= (p.Val258=)
c.750G= (p.Val250=)
c.753G= (p.Val251=)
n.791G=
17g.74695746C>GCA501745341CD300LF,RAB37c.696G>C (p.Val232=)
c.*7G>C (n.*7G>C)
c.72+24088C>G (n.72+24088C>G)
c.592G>C (n.592G>C)
c.727G>C (n.727G>C)
n.479+24088C>G
c.*71G>C (n.*71G>C)
c.705G>C (p.Val235=)
c.741G>C (p.Val247=)
n.868G>C
c.828G>C (p.Val276=)
c.819G>C (p.Val273=)
c.783G>C (p.Val261=)
c.774G>C (p.Val258=)
c.750G>C (p.Val250=)
c.753G>C (p.Val251=)
n.791G>C
17g.74695746C>TCA8749751CD300LF,RAB37c.696G>A (p.Val232=)
c.*7G>A (n.*7G>A)
c.72+24088C>T (n.72+24088C>T)
c.592G>A (n.592G>A)
c.727G>A (n.727G>A)
n.479+24088C>T
c.*71G>A (n.*71G>A)
c.705G>A (p.Val235=)
c.741G>A (p.Val247=)
n.868G>A
c.828G>A (p.Val276=)
c.819G>A (p.Val273=)
c.783G>A (p.Val261=)
c.774G>A (p.Val258=)
c.750G>A (p.Val250=)
c.753G>A (p.Val251=)
n.791G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695747A=CA2275146993CD300LF,RAB37c.695T= (p.Val232=)
c.*6T= (n.*6T=)
c.72+24089A= (n.72+24089A=)
c.591T= (n.591T=)
c.726T= (n.726T=)
n.479+24089A=
c.*70T= (n.*70T=)
c.704T= (p.Val235=)
c.740T= (p.Val247=)
n.867T=
c.827T= (p.Val276=)
c.818T= (p.Val273=)
c.782T= (p.Val261=)
c.773T= (p.Val258=)
c.749T= (p.Val250=)
c.752T= (p.Val251=)
n.790T=
17g.74695747A>CCA293928457CD300LF,RAB37c.695T>G (p.Val232Gly)
c.*6T>G (n.*6T>G)
c.72+24089A>C (n.72+24089A>C)
c.591T>G (n.591T>G)
c.726T>G (n.726T>G)
n.479+24089A>C
c.*70T>G (n.*70T>G)
c.704T>G (p.Val235Gly)
c.740T>G (p.Val247Gly)
n.867T>G
c.827T>G (p.Val276Gly)
c.818T>G (p.Val273Gly)
c.782T>G (p.Val261Gly)
c.773T>G (p.Val258Gly)
c.749T>G (p.Val250Gly)
c.752T>G (p.Val251Gly)
n.790T>G
 dbSNP gnomAD v2 gnomAD v4
17g.74695747A>GCA400934948CD300LF,RAB37c.695T>C (p.Val232Ala)
c.*6T>C (n.*6T>C)
c.72+24089A>G (n.72+24089A>G)
c.591T>C (n.591T>C)
c.726T>C (n.726T>C)
n.479+24089A>G
c.*70T>C (n.*70T>C)
c.704T>C (p.Val235Ala)
c.740T>C (p.Val247Ala)
n.867T>C
c.827T>C (p.Val276Ala)
c.818T>C (p.Val273Ala)
c.782T>C (p.Val261Ala)
c.773T>C (p.Val258Ala)
c.749T>C (p.Val250Ala)
c.752T>C (p.Val251Ala)
n.790T>C
17g.74695747A>TCA400934947CD300LF,RAB37c.695T>A (p.Val232Glu)
c.*6T>A (n.*6T>A)
c.72+24089A>T (n.72+24089A>T)
c.591T>A (n.591T>A)
c.726T>A (n.726T>A)
n.479+24089A>T
c.*70T>A (n.*70T>A)
c.704T>A (p.Val235Glu)
c.740T>A (p.Val247Glu)
n.867T>A
c.827T>A (p.Val276Glu)
c.818T>A (p.Val273Glu)
c.782T>A (p.Val261Glu)
c.773T>A (p.Val258Glu)
c.749T>A (p.Val250Glu)
c.752T>A (p.Val251Glu)
n.790T>A
17g.74695748C>ACA400934949CD300LF,RAB37c.694G>T (p.Val232Leu)
c.*5G>T (n.*5G>T)
c.72+24090C>A (n.72+24090C>A)
c.590G>T (n.590G>T)
c.725G>T (n.725G>T)
n.479+24090C>A
c.*69G>T (n.*69G>T)
c.703G>T (p.Val235Leu)
c.739G>T (p.Val247Leu)
n.866G>T
c.826G>T (p.Val276Leu)
c.817G>T (p.Val273Leu)
c.781G>T (p.Val261Leu)
c.772G>T (p.Val258Leu)
c.748G>T (p.Val250Leu)
c.751G>T (p.Val251Leu)
n.789G>T
17g.74695748C>GCA400934950CD300LF,RAB37c.694G>C (p.Val232Leu)
c.*5G>C (n.*5G>C)
c.72+24090C>G (n.72+24090C>G)
c.590G>C (n.590G>C)
c.725G>C (n.725G>C)
n.479+24090C>G
c.*69G>C (n.*69G>C)
c.703G>C (p.Val235Leu)
c.739G>C (p.Val247Leu)
n.866G>C
c.826G>C (p.Val276Leu)
c.817G>C (p.Val273Leu)
c.781G>C (p.Val261Leu)
c.772G>C (p.Val258Leu)
c.748G>C (p.Val250Leu)
c.751G>C (p.Val251Leu)
n.789G>C
17g.74695748C>TCA400934951CD300LF,RAB37c.694G>A (p.Val232Met)
c.*5G>A (n.*5G>A)
c.72+24090C>T (n.72+24090C>T)
c.590G>A (n.590G>A)
c.725G>A (n.725G>A)
n.479+24090C>T
c.*69G>A (n.*69G>A)
c.703G>A (p.Val235Met)
c.739G>A (p.Val247Met)
n.866G>A
c.826G>A (p.Val276Met)
c.817G>A (p.Val273Met)
c.781G>A (p.Val261Met)
c.772G>A (p.Val258Met)
c.748G>A (p.Val250Met)
c.751G>A (p.Val251Met)
n.789G>A
 gnomAD v4
17g.74695749C>ACA400934952CD300LF,RAB37c.693G>T (p.Gln231His)
c.*4G>T (n.*4G>T)
c.72+24091C>A (n.72+24091C>A)
c.589G>T (n.589G>T)
c.724G>T (n.724G>T)
n.479+24091C>A
c.*68G>T (n.*68G>T)
c.702G>T (p.Gln234His)
c.738G>T (p.Gln246His)
n.865G>T
c.825G>T (p.Gln275His)
c.816G>T (p.Gln272His)
c.780G>T (p.Gln260His)
c.771G>T (p.Gln257His)
c.747G>T (p.Gln249His)
c.750G>T (p.Gln250His)
n.788G>T
17g.74695749C>GCA400934953CD300LF,RAB37c.693G>C (p.Gln231His)
c.*4G>C (n.*4G>C)
c.72+24091C>G (n.72+24091C>G)
c.589G>C (n.589G>C)
c.724G>C (n.724G>C)
n.479+24091C>G
c.*68G>C (n.*68G>C)
c.702G>C (p.Gln234His)
c.738G>C (p.Gln246His)
n.865G>C
c.825G>C (p.Gln275His)
c.816G>C (p.Gln272His)
c.780G>C (p.Gln260His)
c.771G>C (p.Gln257His)
c.747G>C (p.Gln249His)
c.750G>C (p.Gln250His)
n.788G>C
17g.74695749C>TCA501745342CD300LF,RAB37c.693G>A (p.Gln231=)
c.*4G>A (n.*4G>A)
c.72+24091C>T (n.72+24091C>T)
c.589G>A (n.589G>A)
c.724G>A (n.724G>A)
n.479+24091C>T
c.*68G>A (n.*68G>A)
c.702G>A (p.Gln234=)
c.738G>A (p.Gln246=)
n.865G>A
c.825G>A (p.Gln275=)
c.816G>A (p.Gln272=)
c.780G>A (p.Gln260=)
c.771G>A (p.Gln257=)
c.747G>A (p.Gln249=)
c.750G>A (p.Gln250=)
n.788G>A
 COSMIC COSMIC
17g.74695750T>ACA400934954CD300LF,RAB37c.692A>T (p.Gln231Leu)
c.*3A>T (n.*3A>T)
c.72+24092T>A (n.72+24092T>A)
c.588A>T (n.588A>T)
c.723A>T (n.723A>T)
n.479+24092T>A
c.*67A>T (n.*67A>T)
c.701A>T (p.Gln234Leu)
c.737A>T (p.Gln246Leu)
n.864A>T
c.824A>T (p.Gln275Leu)
c.815A>T (p.Gln272Leu)
c.779A>T (p.Gln260Leu)
c.770A>T (p.Gln257Leu)
c.746A>T (p.Gln249Leu)
c.749A>T (p.Gln250Leu)
n.787A>T
17g.74695750T>CCA400934955CD300LF,RAB37c.692A>G (p.Gln231Arg)
c.*3A>G (n.*3A>G)
c.72+24092T>C (n.72+24092T>C)
c.588A>G (n.588A>G)
c.723A>G (n.723A>G)
n.479+24092T>C
c.*67A>G (n.*67A>G)
c.701A>G (p.Gln234Arg)
c.737A>G (p.Gln246Arg)
n.864A>G
c.824A>G (p.Gln275Arg)
c.815A>G (p.Gln272Arg)
c.779A>G (p.Gln260Arg)
c.770A>G (p.Gln257Arg)
c.746A>G (p.Gln249Arg)
c.749A>G (p.Gln250Arg)
n.787A>G
17g.74695750T>GCA400934956CD300LF,RAB37c.692A>C (p.Gln231Pro)
c.*3A>C (n.*3A>C)
c.72+24092T>G (n.72+24092T>G)
c.588A>C (n.588A>C)
c.723A>C (n.723A>C)
n.479+24092T>G
c.*67A>C (n.*67A>C)
c.701A>C (p.Gln234Pro)
c.737A>C (p.Gln246Pro)
n.864A>C
c.824A>C (p.Gln275Pro)
c.815A>C (p.Gln272Pro)
c.779A>C (p.Gln260Pro)
c.770A>C (p.Gln257Pro)
c.746A>C (p.Gln249Pro)
c.749A>C (p.Gln250Pro)
n.787A>C
17g.74695751G>ACA400934957CD300LF,RAB37c.691C>T (p.Gln231Ter)
c.*2C>T (n.*2C>T)
c.72+24093G>A (n.72+24093G>A)
c.587C>T (n.587C>T)
c.722C>T (n.722C>T)
n.479+24093G>A
c.*66C>T (n.*66C>T)
c.700C>T (p.Gln234Ter)
c.736C>T (p.Gln246Ter)
n.863C>T
c.823C>T (p.Gln275Ter)
c.814C>T (p.Gln272Ter)
c.778C>T (p.Gln260Ter)
c.769C>T (p.Gln257Ter)
c.745C>T (p.Gln249Ter)
c.748C>T (p.Gln250Ter)
n.786C>T
 gnomAD v4 COSMIC COSMIC
17g.74695751G>CCA400934958CD300LF,RAB37c.691C>G (p.Gln231Glu)
c.*2C>G (n.*2C>G)
c.72+24093G>C (n.72+24093G>C)
c.587C>G (n.587C>G)
c.722C>G (n.722C>G)
n.479+24093G>C
c.*66C>G (n.*66C>G)
c.700C>G (p.Gln234Glu)
c.736C>G (p.Gln246Glu)
n.863C>G
c.823C>G (p.Gln275Glu)
c.814C>G (p.Gln272Glu)
c.778C>G (p.Gln260Glu)
c.769C>G (p.Gln257Glu)
c.745C>G (p.Gln249Glu)
c.748C>G (p.Gln250Glu)
n.786C>G
17g.74695751G>TCA400934959CD300LF,RAB37c.691C>A (p.Gln231Lys)
c.*2C>A (n.*2C>A)
c.72+24093G>T (n.72+24093G>T)
c.587C>A (n.587C>A)
c.722C>A (n.722C>A)
n.479+24093G>T
c.*66C>A (n.*66C>A)
c.700C>A (p.Gln234Lys)
c.736C>A (p.Gln246Lys)
n.863C>A
c.823C>A (p.Gln275Lys)
c.814C>A (p.Gln272Lys)
c.778C>A (p.Gln260Lys)
c.769C>A (p.Gln257Lys)
c.745C>A (p.Gln249Lys)
c.748C>A (p.Gln250Lys)
n.786C>A
17g.74695752G>ACA501745343CD300LF,RAB37c.690C>T (p.Asp230=)
c.*1C>T (n.*1C>T)
c.72+24094G>A (n.72+24094G>A)
c.586C>T (n.586C>T)
c.721C>T (n.721C>T)
n.479+24094G>A
c.*65C>T (n.*65C>T)
c.699C>T (p.Asp233=)
c.735C>T (p.Asp245=)
n.862C>T
c.822C>T (p.Asp274=)
c.813C>T (p.Asp271=)
c.777C>T (p.Asp259=)
c.768C>T (p.Asp256=)
c.744C>T (p.Asp248=)
c.747C>T (p.Asp249=)
n.785C>T
17g.74695752G>CCA400934960CD300LF,RAB37c.690C>G (p.Asp230Glu)
c.*1C>G (n.*1C>G)
c.72+24094G>C (n.72+24094G>C)
c.586C>G (n.586C>G)
c.721C>G (n.721C>G)
n.479+24094G>C
c.*65C>G (n.*65C>G)
c.699C>G (p.Asp233Glu)
c.735C>G (p.Asp245Glu)
n.862C>G
c.822C>G (p.Asp274Glu)
c.813C>G (p.Asp271Glu)
c.777C>G (p.Asp259Glu)
c.768C>G (p.Asp256Glu)
c.744C>G (p.Asp248Glu)
c.747C>G (p.Asp249Glu)
n.785C>G
17g.74695752G>TCA400934961CD300LF,RAB37c.690C>A (p.Asp230Glu)
c.*1C>A (n.*1C>A)
c.72+24094G>T (n.72+24094G>T)
c.586C>A (n.586C>A)
c.721C>A (n.721C>A)
n.479+24094G>T
c.*65C>A (n.*65C>A)
c.699C>A (p.Asp233Glu)
c.735C>A (p.Asp245Glu)
n.862C>A
c.822C>A (p.Asp274Glu)
c.813C>A (p.Asp271Glu)
c.777C>A (p.Asp259Glu)
c.768C>A (p.Asp256Glu)
c.744C>A (p.Asp248Glu)
c.747C>A (p.Asp249Glu)
n.785C>A
17g.74695753T>ACA400934964CD300LF,RAB37c.689A>T (p.Asp230Val)
c.735A>T (p.Ter245Cys)
c.72+24095T>A (n.72+24095T>A)
c.585A>T (p.Ter195Cys)
c.720A>T (p.Ter240Cys)
n.479+24095T>A
c.*64A>T (n.*64A>T)
c.698A>T (p.Asp233Val)
c.734A>T (p.Asp245Val)
c.666A>T (p.Ter222Cys)
n.861A>T
c.821A>T (p.Asp274Val)
c.812A>T (p.Asp271Val)
c.776A>T (p.Asp259Val)
c.767A>T (p.Asp256Val)
c.743A>T (p.Asp248Val)
c.798A>T (p.Ter266Cys)
c.789A>T (p.Ter263Cys)
c.753A>T (p.Ter251Cys)
c.746A>T (p.Asp249Val)
c.801A>T (p.Ter267Cys)
c.792A>T (p.Ter264Cys)
c.744A>T (p.Ter248Cys)
c.723A>T (p.Ter241Cys)
c.711A>T (p.Ter237Cys)
n.784A>T
17g.74695753T>CCA400934962CD300LF,RAB37c.689A>G (p.Asp230Gly)
c.735A>G (p.Ter245Trp)
c.72+24095T>C (n.72+24095T>C)
c.585A>G (p.Ter195Trp)
c.720A>G (p.Ter240Trp)
n.479+24095T>C
c.*64A>G (n.*64A>G)
c.698A>G (p.Asp233Gly)
c.734A>G (p.Asp245Gly)
c.666A>G (p.Ter222Trp)
n.861A>G
c.821A>G (p.Asp274Gly)
c.812A>G (p.Asp271Gly)
c.776A>G (p.Asp259Gly)
c.767A>G (p.Asp256Gly)
c.743A>G (p.Asp248Gly)
c.798A>G (p.Ter266Trp)
c.789A>G (p.Ter263Trp)
c.753A>G (p.Ter251Trp)
c.746A>G (p.Asp249Gly)
c.801A>G (p.Ter267Trp)
c.792A>G (p.Ter264Trp)
c.744A>G (p.Ter248Trp)
c.723A>G (p.Ter241Trp)
c.711A>G (p.Ter237Trp)
n.784A>G
17g.74695753T>GCA400934963CD300LF,RAB37c.689A>C (p.Asp230Ala)
c.735A>C (p.Ter245Cys)
c.72+24095T>G (n.72+24095T>G)
c.585A>C (p.Ter195Cys)
c.720A>C (p.Ter240Cys)
n.479+24095T>G
c.*64A>C (n.*64A>C)
c.698A>C (p.Asp233Ala)
c.734A>C (p.Asp245Ala)
c.666A>C (p.Ter222Cys)
n.861A>C
c.821A>C (p.Asp274Ala)
c.812A>C (p.Asp271Ala)
c.776A>C (p.Asp259Ala)
c.767A>C (p.Asp256Ala)
c.743A>C (p.Asp248Ala)
c.798A>C (p.Ter266Cys)
c.789A>C (p.Ter263Cys)
c.753A>C (p.Ter251Cys)
c.746A>C (p.Asp249Ala)
c.801A>C (p.Ter267Cys)
c.792A>C (p.Ter264Cys)
c.744A>C (p.Ter248Cys)
c.723A>C (p.Ter241Cys)
c.711A>C (p.Ter237Cys)
n.784A>C
17g.74695754C>ACA400934965CD300LF,RAB37c.688G>T (p.Asp230Tyr)
c.734G>T (p.Ter245Leu)
c.72+24096C>A (n.72+24096C>A)
c.584G>T (p.Ter195Leu)
c.719G>T (p.Ter240Leu)
n.479+24096C>A
c.*63G>T (n.*63G>T)
c.697G>T (p.Asp233Tyr)
c.733G>T (p.Asp245Tyr)
c.665G>T (p.Ter222Leu)
n.860G>T
c.820G>T (p.Asp274Tyr)
c.811G>T (p.Asp271Tyr)
c.775G>T (p.Asp259Tyr)
c.766G>T (p.Asp256Tyr)
c.742G>T (p.Asp248Tyr)
c.797G>T (p.Ter266Leu)
c.788G>T (p.Ter263Leu)
c.752G>T (p.Ter251Leu)
c.745G>T (p.Asp249Tyr)
c.800G>T (p.Ter267Leu)
c.791G>T (p.Ter264Leu)
c.743G>T (p.Ter248Leu)
c.722G>T (p.Ter241Leu)
c.710G>T (p.Ter237Leu)
n.783G>T
17g.74695754C>GCA400934966CD300LF,RAB37c.688G>C (p.Asp230His)
c.734G>C (p.Ter245Ser)
c.72+24096C>G (n.72+24096C>G)
c.584G>C (p.Ter195Ser)
c.719G>C (p.Ter240Ser)
n.479+24096C>G
c.*63G>C (n.*63G>C)
c.697G>C (p.Asp233His)
c.733G>C (p.Asp245His)
c.665G>C (p.Ter222Ser)
n.860G>C
c.820G>C (p.Asp274His)
c.811G>C (p.Asp271His)
c.775G>C (p.Asp259His)
c.766G>C (p.Asp256His)
c.742G>C (p.Asp248His)
c.797G>C (p.Ter266Ser)
c.788G>C (p.Ter263Ser)
c.752G>C (p.Ter251Ser)
c.745G>C (p.Asp249His)
c.800G>C (p.Ter267Ser)
c.791G>C (p.Ter264Ser)
c.743G>C (p.Ter248Ser)
c.722G>C (p.Ter241Ser)
c.710G>C (p.Ter237Ser)
n.783G>C
17g.74695754C>TCA400934967CD300LF,RAB37c.688G>A (p.Asp230Asn)
c.734G>A (p.Ter245=)
c.72+24096C>T (n.72+24096C>T)
c.584G>A (p.Ter195=)
c.719G>A (p.Ter240=)
n.479+24096C>T
c.*63G>A (n.*63G>A)
c.697G>A (p.Asp233Asn)
c.733G>A (p.Asp245Asn)
c.665G>A (p.Ter222=)
n.860G>A
c.820G>A (p.Asp274Asn)
c.811G>A (p.Asp271Asn)
c.775G>A (p.Asp259Asn)
c.766G>A (p.Asp256Asn)
c.742G>A (p.Asp248Asn)
c.797G>A (p.Ter266=)
c.788G>A (p.Ter263=)
c.752G>A (p.Ter251=)
c.745G>A (p.Asp249Asn)
c.800G>A (p.Ter267=)
c.791G>A (p.Ter264=)
c.743G>A (p.Ter248=)
c.722G>A (p.Ter241=)
c.710G>A (p.Ter237=)
n.783G>A
 gnomAD v4
17g.74695755A>CCA400934968CD300LF,RAB37c.687T>G (p.Val229=)
c.733T>G (p.Ter245Gly)
c.72+24097A>C (n.72+24097A>C)
c.583T>G (p.Ter195Gly)
c.718T>G (p.Ter240Gly)
n.479+24097A>C
c.*62T>G (n.*62T>G)
c.696T>G (p.Val232=)
c.732T>G (p.Val244=)
c.664T>G (p.Ter222Gly)
n.859T>G
c.819T>G (p.Val273=)
c.810T>G (p.Val270=)
c.774T>G (p.Val258=)
c.765T>G (p.Val255=)
c.741T>G (p.Val247=)
c.796T>G (p.Ter266Gly)
c.787T>G (p.Ter263Gly)
c.751T>G (p.Ter251Gly)
c.744T>G (p.Val248=)
c.799T>G (p.Ter267Gly)
c.790T>G (p.Ter264Gly)
c.742T>G (p.Ter248Gly)
c.721T>G (p.Ter241Gly)
c.709T>G (p.Ter237Gly)
n.782T>G
17g.74695755A>GCA400934969CD300LF,RAB37c.687T>C (p.Val229=)
c.733T>C (p.Ter245Arg)
c.72+24097A>G (n.72+24097A>G)
c.583T>C (p.Ter195Arg)
c.718T>C (p.Ter240Arg)
n.479+24097A>G
c.*62T>C (n.*62T>C)
c.696T>C (p.Val232=)
c.732T>C (p.Val244=)
c.664T>C (p.Ter222Arg)
n.859T>C
c.819T>C (p.Val273=)
c.810T>C (p.Val270=)
c.774T>C (p.Val258=)
c.765T>C (p.Val255=)
c.741T>C (p.Val247=)
c.796T>C (p.Ter266Arg)
c.787T>C (p.Ter263Arg)
c.751T>C (p.Ter251Arg)
c.744T>C (p.Val248=)
c.799T>C (p.Ter267Arg)
c.790T>C (p.Ter264Arg)
c.742T>C (p.Ter248Arg)
c.721T>C (p.Ter241Arg)
c.709T>C (p.Ter237Arg)
n.782T>C
17g.74695755A>TCA400934970CD300LF,RAB37c.687T>A (p.Val229=)
c.733T>A (p.Ter245Arg)
c.72+24097A>T (n.72+24097A>T)
c.583T>A (p.Ter195Arg)
c.718T>A (p.Ter240Arg)
n.479+24097A>T
c.*62T>A (n.*62T>A)
c.696T>A (p.Val232=)
c.732T>A (p.Val244=)
c.664T>A (p.Ter222Arg)
n.859T>A
c.819T>A (p.Val273=)
c.810T>A (p.Val270=)
c.774T>A (p.Val258=)
c.765T>A (p.Val255=)
c.741T>A (p.Val247=)
c.796T>A (p.Ter266Arg)
c.787T>A (p.Ter263Arg)
c.751T>A (p.Ter251Arg)
c.744T>A (p.Val248=)
c.799T>A (p.Ter267Arg)
c.790T>A (p.Ter264Arg)
c.742T>A (p.Ter248Arg)
c.721T>A (p.Ter241Arg)
c.709T>A (p.Ter237Arg)
n.782T>A
17g.74695756A=CA2275146994CD300LF,RAB37c.686T= (p.Val229=)
c.732T= (p.Gly244=)
c.72+24098A= (n.72+24098A=)
c.582T= (p.Gly194=)
c.717T= (p.Gly239=)
n.479+24098A=
c.*61T= (n.*61T=)
c.695T= (p.Val232=)
c.731T= (p.Val244=)
c.663T= (p.Gly221=)
n.858T=
c.818T= (p.Val273=)
c.809T= (p.Val270=)
c.773T= (p.Val258=)
c.764T= (p.Val255=)
c.740T= (p.Val247=)
c.795T= (p.Gly265=)
c.786T= (p.Gly262=)
c.750T= (p.Gly250=)
c.743T= (p.Val248=)
c.798T= (p.Gly266=)
c.789T= (p.Gly263=)
c.741T= (p.Gly247=)
c.720T= (p.Gly240=)
c.708T= (p.Gly236=)
n.781T=
17g.74695756A>CCA400934971CD300LF,RAB37c.686T>G (p.Val229Gly)
c.732T>G (p.Gly244=)
c.72+24098A>C (n.72+24098A>C)
c.582T>G (p.Gly194=)
c.717T>G (p.Gly239=)
n.479+24098A>C
c.*61T>G (n.*61T>G)
c.695T>G (p.Val232Gly)
c.731T>G (p.Val244Gly)
c.663T>G (p.Gly221=)
n.858T>G
c.818T>G (p.Val273Gly)
c.809T>G (p.Val270Gly)
c.773T>G (p.Val258Gly)
c.764T>G (p.Val255Gly)
c.740T>G (p.Val247Gly)
c.795T>G (p.Gly265=)
c.786T>G (p.Gly262=)
c.750T>G (p.Gly250=)
c.743T>G (p.Val248Gly)
c.798T>G (p.Gly266=)
c.789T>G (p.Gly263=)
c.741T>G (p.Gly247=)
c.720T>G (p.Gly240=)
c.708T>G (p.Gly236=)
n.781T>G
 dbSNP
17g.74695756A>GCA8749752CD300LF,RAB37c.686T>C (p.Val229Ala)
c.732T>C (p.Gly244=)
c.72+24098A>G (n.72+24098A>G)
c.582T>C (p.Gly194=)
c.717T>C (p.Gly239=)
n.479+24098A>G
c.*61T>C (n.*61T>C)
c.695T>C (p.Val232Ala)
c.731T>C (p.Val244Ala)
c.663T>C (p.Gly221=)
n.858T>C
c.818T>C (p.Val273Ala)
c.809T>C (p.Val270Ala)
c.773T>C (p.Val258Ala)
c.764T>C (p.Val255Ala)
c.740T>C (p.Val247Ala)
c.795T>C (p.Gly265=)
c.786T>C (p.Gly262=)
c.750T>C (p.Gly250=)
c.743T>C (p.Val248Ala)
c.798T>C (p.Gly266=)
c.789T>C (p.Gly263=)
c.741T>C (p.Gly247=)
c.720T>C (p.Gly240=)
c.708T>C (p.Gly236=)
n.781T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695756A>TCA400934972CD300LF,RAB37c.686T>A (p.Val229Asp)
c.732T>A (p.Gly244=)
c.72+24098A>T (n.72+24098A>T)
c.582T>A (p.Gly194=)
c.717T>A (p.Gly239=)
n.479+24098A>T
c.*61T>A (n.*61T>A)
c.695T>A (p.Val232Asp)
c.731T>A (p.Val244Asp)
c.663T>A (p.Gly221=)
n.858T>A
c.818T>A (p.Val273Asp)
c.809T>A (p.Val270Asp)
c.773T>A (p.Val258Asp)
c.764T>A (p.Val255Asp)
c.740T>A (p.Val247Asp)
c.795T>A (p.Gly265=)
c.786T>A (p.Gly262=)
c.750T>A (p.Gly250=)
c.743T>A (p.Val248Asp)
c.798T>A (p.Gly266=)
c.789T>A (p.Gly263=)
c.741T>A (p.Gly247=)
c.720T>A (p.Gly240=)
c.708T>A (p.Gly236=)
n.781T>A
17g.74695757C>ACA400934973CD300LF,RAB37c.685G>T (p.Val229Phe)
c.731G>T (p.Gly244Val)
c.72+24099C>A (n.72+24099C>A)
c.581G>T (p.Gly194Val)
c.716G>T (p.Gly239Val)
n.479+24099C>A
c.*60G>T (n.*60G>T)
c.694G>T (p.Val232Phe)
c.730G>T (p.Val244Phe)
c.662G>T (p.Gly221Val)
n.857G>T
c.817G>T (p.Val273Phe)
c.808G>T (p.Val270Phe)
c.772G>T (p.Val258Phe)
c.763G>T (p.Val255Phe)
c.739G>T (p.Val247Phe)
c.794G>T (p.Gly265Val)
c.785G>T (p.Gly262Val)
c.749G>T (p.Gly250Val)
c.742G>T (p.Val248Phe)
c.797G>T (p.Gly266Val)
c.788G>T (p.Gly263Val)
c.740G>T (p.Gly247Val)
c.719G>T (p.Gly240Val)
c.707G>T (p.Gly236Val)
n.780G>T
17g.74695757C>GCA400934974CD300LF,RAB37c.685G>C (p.Val229Leu)
c.731G>C (p.Gly244Ala)
c.72+24099C>G (n.72+24099C>G)
c.581G>C (p.Gly194Ala)
c.716G>C (p.Gly239Ala)
n.479+24099C>G
c.*60G>C (n.*60G>C)
c.694G>C (p.Val232Leu)
c.730G>C (p.Val244Leu)
c.662G>C (p.Gly221Ala)
n.857G>C
c.817G>C (p.Val273Leu)
c.808G>C (p.Val270Leu)
c.772G>C (p.Val258Leu)
c.763G>C (p.Val255Leu)
c.739G>C (p.Val247Leu)
c.794G>C (p.Gly265Ala)
c.785G>C (p.Gly262Ala)
c.749G>C (p.Gly250Ala)
c.742G>C (p.Val248Leu)
c.797G>C (p.Gly266Ala)
c.788G>C (p.Gly263Ala)
c.740G>C (p.Gly247Ala)
c.719G>C (p.Gly240Ala)
c.707G>C (p.Gly236Ala)
n.780G>C
17g.74695757C>TCA400934975CD300LF,RAB37c.685G>A (p.Val229Ile)
c.731G>A (p.Gly244Asp)
c.72+24099C>T (n.72+24099C>T)
c.581G>A (p.Gly194Asp)
c.716G>A (p.Gly239Asp)
n.479+24099C>T
c.*60G>A (n.*60G>A)
c.694G>A (p.Val232Ile)
c.730G>A (p.Val244Ile)
c.662G>A (p.Gly221Asp)
n.857G>A
c.817G>A (p.Val273Ile)
c.808G>A (p.Val270Ile)
c.772G>A (p.Val258Ile)
c.763G>A (p.Val255Ile)
c.739G>A (p.Val247Ile)
c.794G>A (p.Gly265Asp)
c.785G>A (p.Gly262Asp)
c.749G>A (p.Gly250Asp)
c.742G>A (p.Val248Ile)
c.797G>A (p.Gly266Asp)
c.788G>A (p.Gly263Asp)
c.740G>A (p.Gly247Asp)
c.719G>A (p.Gly240Asp)
c.707G>A (p.Gly236Asp)
n.780G>A
 gnomAD v4
17g.74695758C>ACA400934978CD300LF,RAB37c.684G>T (p.Gln228His)
c.730G>T (p.Gly244Cys)
c.72+24100C>A (n.72+24100C>A)
c.580G>T (p.Gly194Cys)
c.715G>T (p.Gly239Cys)
n.479+24100C>A
c.*59G>T (n.*59G>T)
c.693G>T (p.Gln231His)
c.729G>T (p.Gln243His)
c.661G>T (p.Gly221Cys)
n.856G>T
c.816G>T (p.Gln272His)
c.807G>T (p.Gln269His)
c.771G>T (p.Gln257His)
c.762G>T (p.Gln254His)
c.738G>T (p.Gln246His)
c.793G>T (p.Gly265Cys)
c.784G>T (p.Gly262Cys)
c.748G>T (p.Gly250Cys)
c.741G>T (p.Gln247His)
c.796G>T (p.Gly266Cys)
c.787G>T (p.Gly263Cys)
c.739G>T (p.Gly247Cys)
c.718G>T (p.Gly240Cys)
c.706G>T (p.Gly236Cys)
n.779G>T
 dbSNP gnomAD v2 gnomAD v4
17g.74695758C=CA2275146995CD300LF,RAB37c.684G= (p.Gln228=)
c.730G= (p.Gly244=)
c.72+24100C= (n.72+24100C=)
c.580G= (p.Gly194=)
c.715G= (p.Gly239=)
n.479+24100C=
c.*59G= (n.*59G=)
c.693G= (p.Gln231=)
c.729G= (p.Gln243=)
c.661G= (p.Gly221=)
n.856G=
c.816G= (p.Gln272=)
c.807G= (p.Gln269=)
c.771G= (p.Gln257=)
c.762G= (p.Gln254=)
c.738G= (p.Gln246=)
c.793G= (p.Gly265=)
c.784G= (p.Gly262=)
c.748G= (p.Gly250=)
c.741G= (p.Gln247=)
c.796G= (p.Gly266=)
c.787G= (p.Gly263=)
c.739G= (p.Gly247=)
c.718G= (p.Gly240=)
c.706G= (p.Gly236=)
n.779G=
17g.74695758C>GCA400934977CD300LF,RAB37c.684G>C (p.Gln228His)
c.730G>C (p.Gly244Arg)
c.72+24100C>G (n.72+24100C>G)
c.580G>C (p.Gly194Arg)
c.715G>C (p.Gly239Arg)
n.479+24100C>G
c.*59G>C (n.*59G>C)
c.693G>C (p.Gln231His)
c.729G>C (p.Gln243His)
c.661G>C (p.Gly221Arg)
n.856G>C
c.816G>C (p.Gln272His)
c.807G>C (p.Gln269His)
c.771G>C (p.Gln257His)
c.762G>C (p.Gln254His)
c.738G>C (p.Gln246His)
c.793G>C (p.Gly265Arg)
c.784G>C (p.Gly262Arg)
c.748G>C (p.Gly250Arg)
c.741G>C (p.Gln247His)
c.796G>C (p.Gly266Arg)
c.787G>C (p.Gly263Arg)
c.739G>C (p.Gly247Arg)
c.718G>C (p.Gly240Arg)
c.706G>C (p.Gly236Arg)
n.779G>C
 dbSNP gnomAD v3 gnomAD v4
17g.74695758C>TCA400934976CD300LF,RAB37c.684G>A (p.Gln228=)
c.730G>A (p.Gly244Ser)
c.72+24100C>T (n.72+24100C>T)
c.580G>A (p.Gly194Ser)
c.715G>A (p.Gly239Ser)
n.479+24100C>T
c.*59G>A (n.*59G>A)
c.693G>A (p.Gln231=)
c.729G>A (p.Gln243=)
c.661G>A (p.Gly221Ser)
n.856G>A
c.816G>A (p.Gln272=)
c.807G>A (p.Gln269=)
c.771G>A (p.Gln257=)
c.762G>A (p.Gln254=)
c.738G>A (p.Gln246=)
c.793G>A (p.Gly265Ser)
c.784G>A (p.Gly262Ser)
c.748G>A (p.Gly250Ser)
c.741G>A (p.Gln247=)
c.796G>A (p.Gly266Ser)
c.787G>A (p.Gly263Ser)
c.739G>A (p.Gly247Ser)
c.718G>A (p.Gly240Ser)
c.706G>A (p.Gly236Ser)
n.779G>A
17g.74695759T>ACA400934979CD300LF,RAB37c.683A>T (p.Gln228Leu)
c.729A>T (p.Pro243=)
c.72+24101T>A (n.72+24101T>A)
c.579A>T (p.Pro193=)
c.714A>T (p.Pro238=)
n.479+24101T>A
c.*58A>T (n.*58A>T)
c.692A>T (p.Gln231Leu)
c.728A>T (p.Gln243Leu)
c.660A>T (p.Pro220=)
n.855A>T
c.815A>T (p.Gln272Leu)
c.806A>T (p.Gln269Leu)
c.770A>T (p.Gln257Leu)
c.761A>T (p.Gln254Leu)
c.737A>T (p.Gln246Leu)
c.792A>T (p.Pro264=)
c.783A>T (p.Pro261=)
c.747A>T (p.Pro249=)
c.740A>T (p.Gln247Leu)
c.795A>T (p.Pro265=)
c.786A>T (p.Pro262=)
c.738A>T (p.Pro246=)
c.717A>T (p.Pro239=)
c.705A>T (p.Pro235=)
n.778A>T
17g.74695759T>CCA8749753CD300LF,RAB37c.683A>G (p.Gln228Arg)
c.729A>G (p.Pro243=)
c.72+24101T>C (n.72+24101T>C)
c.579A>G (p.Pro193=)
c.714A>G (p.Pro238=)
n.479+24101T>C
c.*58A>G (n.*58A>G)
c.692A>G (p.Gln231Arg)
c.728A>G (p.Gln243Arg)
c.660A>G (p.Pro220=)
n.855A>G
c.815A>G (p.Gln272Arg)
c.806A>G (p.Gln269Arg)
c.770A>G (p.Gln257Arg)
c.761A>G (p.Gln254Arg)
c.737A>G (p.Gln246Arg)
c.792A>G (p.Pro264=)
c.783A>G (p.Pro261=)
c.747A>G (p.Pro249=)
c.740A>G (p.Gln247Arg)
c.795A>G (p.Pro265=)
c.786A>G (p.Pro262=)
c.738A>G (p.Pro246=)
c.717A>G (p.Pro239=)
c.705A>G (p.Pro235=)
n.778A>G
 dbSNP ExAC gnomAD v2
17g.74695759T>GCA400934980CD300LF,RAB37c.683A>C (p.Gln228Pro)
c.729A>C (p.Pro243=)
c.72+24101T>G (n.72+24101T>G)
c.579A>C (p.Pro193=)
c.714A>C (p.Pro238=)
n.479+24101T>G
c.*58A>C (n.*58A>C)
c.692A>C (p.Gln231Pro)
c.728A>C (p.Gln243Pro)
c.660A>C (p.Pro220=)
n.855A>C
c.815A>C (p.Gln272Pro)
c.806A>C (p.Gln269Pro)
c.770A>C (p.Gln257Pro)
c.761A>C (p.Gln254Pro)
c.737A>C (p.Gln246Pro)
c.792A>C (p.Pro264=)
c.783A>C (p.Pro261=)
c.747A>C (p.Pro249=)
c.740A>C (p.Gln247Pro)
c.795A>C (p.Pro265=)
c.786A>C (p.Pro262=)
c.738A>C (p.Pro246=)
c.717A>C (p.Pro239=)
c.705A>C (p.Pro235=)
n.778A>C
17g.74695759T=CA2275146996CD300LF,RAB37c.683A= (p.Gln228=)
c.729A= (p.Pro243=)
c.72+24101T= (n.72+24101T=)
c.579A= (p.Pro193=)
c.714A= (p.Pro238=)
n.479+24101T=
c.*58A= (n.*58A=)
c.692A= (p.Gln231=)
c.728A= (p.Gln243=)
c.660A= (p.Pro220=)
n.855A=
c.815A= (p.Gln272=)
c.806A= (p.Gln269=)
c.770A= (p.Gln257=)
c.761A= (p.Gln254=)
c.737A= (p.Gln246=)
c.792A= (p.Pro264=)
c.783A= (p.Pro261=)
c.747A= (p.Pro249=)
c.740A= (p.Gln247=)
c.795A= (p.Pro265=)
c.786A= (p.Pro262=)
c.738A= (p.Pro246=)
c.717A= (p.Pro239=)
c.705A= (p.Pro235=)
n.778A=
17g.74695760G>ACA400934981CD300LF,RAB37c.682C>T (p.Gln228Ter)
c.728C>T (p.Pro243Leu)
c.72+24102G>A (n.72+24102G>A)
c.578C>T (p.Pro193Leu)
c.713C>T (p.Pro238Leu)
n.479+24102G>A
c.*57C>T (n.*57C>T)
c.691C>T (p.Gln231Ter)
c.727C>T (p.Gln243Ter)
c.659C>T (p.Pro220Leu)
n.854C>T
c.814C>T (p.Gln272Ter)
c.805C>T (p.Gln269Ter)
c.769C>T (p.Gln257Ter)
c.760C>T (p.Gln254Ter)
c.736C>T (p.Gln246Ter)
c.791C>T (p.Pro264Leu)
c.782C>T (p.Pro261Leu)
c.746C>T (p.Pro249Leu)
c.739C>T (p.Gln247Ter)
c.794C>T (p.Pro265Leu)
c.785C>T (p.Pro262Leu)
c.737C>T (p.Pro246Leu)
c.716C>T (p.Pro239Leu)
c.704C>T (p.Pro235Leu)
n.777C>T
 gnomAD v4
17g.74695760G>CCA400934983CD300LF,RAB37c.682C>G (p.Gln228Glu)
c.728C>G (p.Pro243Arg)
c.72+24102G>C (n.72+24102G>C)
c.578C>G (p.Pro193Arg)
c.713C>G (p.Pro238Arg)
n.479+24102G>C
c.*57C>G (n.*57C>G)
c.691C>G (p.Gln231Glu)
c.727C>G (p.Gln243Glu)
c.659C>G (p.Pro220Arg)
n.854C>G
c.814C>G (p.Gln272Glu)
c.805C>G (p.Gln269Glu)
c.769C>G (p.Gln257Glu)
c.760C>G (p.Gln254Glu)
c.736C>G (p.Gln246Glu)
c.791C>G (p.Pro264Arg)
c.782C>G (p.Pro261Arg)
c.746C>G (p.Pro249Arg)
c.739C>G (p.Gln247Glu)
c.794C>G (p.Pro265Arg)
c.785C>G (p.Pro262Arg)
c.737C>G (p.Pro246Arg)
c.716C>G (p.Pro239Arg)
c.704C>G (p.Pro235Arg)
n.777C>G
17g.74695760G>TCA400934982CD300LF,RAB37c.682C>A (p.Gln228Lys)
c.728C>A (p.Pro243Gln)
c.72+24102G>T (n.72+24102G>T)
c.578C>A (p.Pro193Gln)
c.713C>A (p.Pro238Gln)
n.479+24102G>T
c.*57C>A (n.*57C>A)
c.691C>A (p.Gln231Lys)
c.727C>A (p.Gln243Lys)
c.659C>A (p.Pro220Gln)
n.854C>A
c.814C>A (p.Gln272Lys)
c.805C>A (p.Gln269Lys)
c.769C>A (p.Gln257Lys)
c.760C>A (p.Gln254Lys)
c.736C>A (p.Gln246Lys)
c.791C>A (p.Pro264Gln)
c.782C>A (p.Pro261Gln)
c.746C>A (p.Pro249Gln)
c.739C>A (p.Gln247Lys)
c.794C>A (p.Pro265Gln)
c.785C>A (p.Pro262Gln)
c.737C>A (p.Pro246Gln)
c.716C>A (p.Pro239Gln)
c.704C>A (p.Pro235Gln)
n.777C>A
17g.74695762delCA2536549728CD300LF,RAB37c.682del (p.Gln228ArgfsTer25)
c.728del (p.Pro243GlnfsTer?)
c.72+24104del (n.72+24104del)
c.578del (p.Pro193GlnfsTer?)
c.713del (p.Pro238GlnfsTer?)
n.479+24104del
c.*57del (n.*57del)
c.691del (p.Gln231ArgfsTer25)
c.727del (p.Gln243ArgfsTer25)
c.659del (p.Pro220GlnfsTer?)
n.854del
c.814del (p.Gln272ArgfsTer25)
c.805del (p.Gln269ArgfsTer25)
c.769del (p.Gln257ArgfsTer25)
c.760del (p.Gln254ArgfsTer25)
c.736del (p.Gln246ArgfsTer25)
c.791del (p.Pro264GlnfsTer?)
c.782del (p.Pro261GlnfsTer?)
c.746del (p.Pro249GlnfsTer?)
c.739del (p.Gln247ArgfsTer25)
c.794del (p.Pro265GlnfsTer?)
c.785del (p.Pro262GlnfsTer?)
c.737del (p.Pro246GlnfsTer?)
c.716del (p.Pro239GlnfsTer?)
c.704del (p.Pro235GlnfsTer?)
n.777del
17g.74695761G>ACA400934984CD300LF,RAB37c.681C>T (p.Ala227=)
c.727C>T (p.Pro243Ser)
c.72+24103G>A (n.72+24103G>A)
c.577C>T (p.Pro193Ser)
c.712C>T (p.Pro238Ser)
n.479+24103G>A
c.*56C>T (n.*56C>T)
c.690C>T (p.Ala230=)
c.726C>T (p.Ala242=)
c.658C>T (p.Pro220Ser)
n.853C>T
c.813C>T (p.Ala271=)
c.804C>T (p.Ala268=)
c.768C>T (p.Ala256=)
c.759C>T (p.Ala253=)
c.735C>T (p.Ala245=)
c.790C>T (p.Pro264Ser)
c.781C>T (p.Pro261Ser)
c.745C>T (p.Pro249Ser)
c.738C>T (p.Ala246=)
c.793C>T (p.Pro265Ser)
c.784C>T (p.Pro262Ser)
c.736C>T (p.Pro246Ser)
c.715C>T (p.Pro239Ser)
c.703C>T (p.Pro235Ser)
n.776C>T
 dbSNP gnomAD v2 gnomAD v4
17g.74695761G>CCA400934985CD300LF,RAB37c.681C>G (p.Ala227=)
c.727C>G (p.Pro243Ala)
c.72+24103G>C (n.72+24103G>C)
c.577C>G (p.Pro193Ala)
c.712C>G (p.Pro238Ala)
n.479+24103G>C
c.*56C>G (n.*56C>G)
c.690C>G (p.Ala230=)
c.726C>G (p.Ala242=)
c.658C>G (p.Pro220Ala)
n.853C>G
c.813C>G (p.Ala271=)
c.804C>G (p.Ala268=)
c.768C>G (p.Ala256=)
c.759C>G (p.Ala253=)
c.735C>G (p.Ala245=)
c.790C>G (p.Pro264Ala)
c.781C>G (p.Pro261Ala)
c.745C>G (p.Pro249Ala)
c.738C>G (p.Ala246=)
c.793C>G (p.Pro265Ala)
c.784C>G (p.Pro262Ala)
c.736C>G (p.Pro246Ala)
c.715C>G (p.Pro239Ala)
c.703C>G (p.Pro235Ala)
n.776C>G
17g.74695761G=CA2275146997CD300LF,RAB37c.681C= (p.Ala227=)
c.727C= (p.Pro243=)
c.72+24103G= (n.72+24103G=)
c.577C= (p.Pro193=)
c.712C= (p.Pro238=)
n.479+24103G=
c.*56C= (n.*56C=)
c.690C= (p.Ala230=)
c.726C= (p.Ala242=)
c.658C= (p.Pro220=)
n.853C=
c.813C= (p.Ala271=)
c.804C= (p.Ala268=)
c.768C= (p.Ala256=)
c.759C= (p.Ala253=)
c.735C= (p.Ala245=)
c.790C= (p.Pro264=)
c.781C= (p.Pro261=)
c.745C= (p.Pro249=)
c.738C= (p.Ala246=)
c.793C= (p.Pro265=)
c.784C= (p.Pro262=)
c.736C= (p.Pro246=)
c.715C= (p.Pro239=)
c.703C= (p.Pro235=)
n.776C=
17g.74695761G>TCA400934986CD300LF,RAB37c.681C>A (p.Ala227=)
c.727C>A (p.Pro243Thr)
c.72+24103G>T (n.72+24103G>T)
c.577C>A (p.Pro193Thr)
c.712C>A (p.Pro238Thr)
n.479+24103G>T
c.*56C>A (n.*56C>A)
c.690C>A (p.Ala230=)
c.726C>A (p.Ala242=)
c.658C>A (p.Pro220Thr)
n.853C>A
c.813C>A (p.Ala271=)
c.804C>A (p.Ala268=)
c.768C>A (p.Ala256=)
c.759C>A (p.Ala253=)
c.735C>A (p.Ala245=)
c.790C>A (p.Pro264Thr)
c.781C>A (p.Pro261Thr)
c.745C>A (p.Pro249Thr)
c.738C>A (p.Ala246=)
c.793C>A (p.Pro265Thr)
c.784C>A (p.Pro262Thr)
c.736C>A (p.Pro246Thr)
c.715C>A (p.Pro239Thr)
c.703C>A (p.Pro235Thr)
n.776C>A
17g.74695762G>ACA400934987CD300LF,RAB37c.680C>T (p.Ala227Val)
c.726C>T (p.Cys242=)
c.72+24104G>A (n.72+24104G>A)
c.576C>T (p.Cys192=)
c.711C>T (p.Cys237=)
n.479+24104G>A
c.*55C>T (n.*55C>T)
c.689C>T (p.Ala230Val)
c.725C>T (p.Ala242Val)
c.657C>T (p.Cys219=)
n.852C>T
c.812C>T (p.Ala271Val)
c.803C>T (p.Ala268Val)
c.767C>T (p.Ala256Val)
c.758C>T (p.Ala253Val)
c.734C>T (p.Ala245Val)
c.789C>T (p.Cys263=)
c.780C>T (p.Cys260=)
c.744C>T (p.Cys248=)
c.737C>T (p.Ala246Val)
c.792C>T (p.Cys264=)
c.783C>T (p.Cys261=)
c.735C>T (p.Cys245=)
c.714C>T (p.Cys238=)
c.702C>T (p.Cys234=)
n.775C>T
 COSMIC COSMIC COSMIC
17g.74695762G>CCA400934988CD300LF,RAB37c.680C>G (p.Ala227Gly)
c.726C>G (p.Cys242Trp)
c.72+24104G>C (n.72+24104G>C)
c.576C>G (p.Cys192Trp)
c.711C>G (p.Cys237Trp)
n.479+24104G>C
c.*55C>G (n.*55C>G)
c.689C>G (p.Ala230Gly)
c.725C>G (p.Ala242Gly)
c.657C>G (p.Cys219Trp)
n.852C>G
c.812C>G (p.Ala271Gly)
c.803C>G (p.Ala268Gly)
c.767C>G (p.Ala256Gly)
c.758C>G (p.Ala253Gly)
c.734C>G (p.Ala245Gly)
c.789C>G (p.Cys263Trp)
c.780C>G (p.Cys260Trp)
c.744C>G (p.Cys248Trp)
c.737C>G (p.Ala246Gly)
c.792C>G (p.Cys264Trp)
c.783C>G (p.Cys261Trp)
c.735C>G (p.Cys245Trp)
c.714C>G (p.Cys238Trp)
c.702C>G (p.Cys234Trp)
n.775C>G
17g.74695762G>TCA400934989CD300LF,RAB37c.680C>A (p.Ala227Asp)
c.726C>A (p.Cys242Ter)
c.72+24104G>T (n.72+24104G>T)
c.576C>A (p.Cys192Ter)
c.711C>A (p.Cys237Ter)
n.479+24104G>T
c.*55C>A (n.*55C>A)
c.689C>A (p.Ala230Asp)
c.725C>A (p.Ala242Asp)
c.657C>A (p.Cys219Ter)
n.852C>A
c.812C>A (p.Ala271Asp)
c.803C>A (p.Ala268Asp)
c.767C>A (p.Ala256Asp)
c.758C>A (p.Ala253Asp)
c.734C>A (p.Ala245Asp)
c.789C>A (p.Cys263Ter)
c.780C>A (p.Cys260Ter)
c.744C>A (p.Cys248Ter)
c.737C>A (p.Ala246Asp)
c.792C>A (p.Cys264Ter)
c.783C>A (p.Cys261Ter)
c.735C>A (p.Cys245Ter)
c.714C>A (p.Cys238Ter)
c.702C>A (p.Cys234Ter)
n.775C>A
17g.74695763C>ACA400934990CD300LF,RAB37c.679G>T (p.Ala227Ser)
c.725G>T (p.Cys242Phe)
c.72+24105C>A (n.72+24105C>A)
c.575G>T (p.Cys192Phe)
c.710G>T (p.Cys237Phe)
n.479+24105C>A
c.*54G>T (n.*54G>T)
c.688G>T (p.Ala230Ser)
c.724G>T (p.Ala242Ser)
c.656G>T (p.Cys219Phe)
n.851G>T
c.811G>T (p.Ala271Ser)
c.802G>T (p.Ala268Ser)
c.766G>T (p.Ala256Ser)
c.757G>T (p.Ala253Ser)
c.733G>T (p.Ala245Ser)
c.788G>T (p.Cys263Phe)
c.779G>T (p.Cys260Phe)
c.743G>T (p.Cys248Phe)
c.736G>T (p.Ala246Ser)
c.791G>T (p.Cys264Phe)
c.782G>T (p.Cys261Phe)
c.734G>T (p.Cys245Phe)
c.713G>T (p.Cys238Phe)
c.701G>T (p.Cys234Phe)
n.774G>T
17g.74695763C=CA2275146998CD300LF,RAB37c.679G= (p.Ala227=)
c.725G= (p.Cys242=)
c.72+24105C= (n.72+24105C=)
c.575G= (p.Cys192=)
c.710G= (p.Cys237=)
n.479+24105C=
c.*54G= (n.*54G=)
c.688G= (p.Ala230=)
c.724G= (p.Ala242=)
c.656G= (p.Cys219=)
n.851G=
c.811G= (p.Ala271=)
c.802G= (p.Ala268=)
c.766G= (p.Ala256=)
c.757G= (p.Ala253=)
c.733G= (p.Ala245=)
c.788G= (p.Cys263=)
c.779G= (p.Cys260=)
c.743G= (p.Cys248=)
c.736G= (p.Ala246=)
c.791G= (p.Cys264=)
c.782G= (p.Cys261=)
c.734G= (p.Cys245=)
c.713G= (p.Cys238=)
c.701G= (p.Cys234=)
n.774G=
17g.74695763C>GCA400934991CD300LF,RAB37c.679G>C (p.Ala227Pro)
c.725G>C (p.Cys242Ser)
c.72+24105C>G (n.72+24105C>G)
c.575G>C (p.Cys192Ser)
c.710G>C (p.Cys237Ser)
n.479+24105C>G
c.*54G>C (n.*54G>C)
c.688G>C (p.Ala230Pro)
c.724G>C (p.Ala242Pro)
c.656G>C (p.Cys219Ser)
n.851G>C
c.811G>C (p.Ala271Pro)
c.802G>C (p.Ala268Pro)
c.766G>C (p.Ala256Pro)
c.757G>C (p.Ala253Pro)
c.733G>C (p.Ala245Pro)
c.788G>C (p.Cys263Ser)
c.779G>C (p.Cys260Ser)
c.743G>C (p.Cys248Ser)
c.736G>C (p.Ala246Pro)
c.791G>C (p.Cys264Ser)
c.782G>C (p.Cys261Ser)
c.734G>C (p.Cys245Ser)
c.713G>C (p.Cys238Ser)
c.701G>C (p.Cys234Ser)
n.774G>C
17g.74695763C>TCA400934992CD300LF,RAB37c.679G>A (p.Ala227Thr)
c.725G>A (p.Cys242Tyr)
c.72+24105C>T (n.72+24105C>T)
c.575G>A (p.Cys192Tyr)
c.710G>A (p.Cys237Tyr)
n.479+24105C>T
c.*54G>A (n.*54G>A)
c.688G>A (p.Ala230Thr)
c.724G>A (p.Ala242Thr)
c.656G>A (p.Cys219Tyr)
n.851G>A
c.811G>A (p.Ala271Thr)
c.802G>A (p.Ala268Thr)
c.766G>A (p.Ala256Thr)
c.757G>A (p.Ala253Thr)
c.733G>A (p.Ala245Thr)
c.788G>A (p.Cys263Tyr)
c.779G>A (p.Cys260Tyr)
c.743G>A (p.Cys248Tyr)
c.736G>A (p.Ala246Thr)
c.791G>A (p.Cys264Tyr)
c.782G>A (p.Cys261Tyr)
c.734G>A (p.Cys245Tyr)
c.713G>A (p.Cys238Tyr)
c.701G>A (p.Cys234Tyr)
n.774G>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695764A>CCA400934993CD300LF,RAB37c.678T>G (p.Ser226=)
c.724T>G (p.Cys242Gly)
c.72+24106A>C (n.72+24106A>C)
c.574T>G (p.Cys192Gly)
c.709T>G (p.Cys237Gly)
n.479+24106A>C
c.*53T>G (n.*53T>G)
c.687T>G (p.Ser229=)
c.723T>G (p.Ser241=)
c.655T>G (p.Cys219Gly)
n.850T>G
c.810T>G (p.Ser270=)
c.801T>G (p.Ser267=)
c.765T>G (p.Ser255=)
c.756T>G (p.Ser252=)
c.732T>G (p.Ser244=)
c.787T>G (p.Cys263Gly)
c.778T>G (p.Cys260Gly)
c.742T>G (p.Cys248Gly)
c.735T>G (p.Ser245=)
c.790T>G (p.Cys264Gly)
c.781T>G (p.Cys261Gly)
c.733T>G (p.Cys245Gly)
c.712T>G (p.Cys238Gly)
c.700T>G (p.Cys234Gly)
n.773T>G
17g.74695764A>GCA400934994CD300LF,RAB37c.678T>C (p.Ser226=)
c.724T>C (p.Cys242Arg)
c.72+24106A>G (n.72+24106A>G)
c.574T>C (p.Cys192Arg)
c.709T>C (p.Cys237Arg)
n.479+24106A>G
c.*53T>C (n.*53T>C)
c.687T>C (p.Ser229=)
c.723T>C (p.Ser241=)
c.655T>C (p.Cys219Arg)
n.850T>C
c.810T>C (p.Ser270=)
c.801T>C (p.Ser267=)
c.765T>C (p.Ser255=)
c.756T>C (p.Ser252=)
c.732T>C (p.Ser244=)
c.787T>C (p.Cys263Arg)
c.778T>C (p.Cys260Arg)
c.742T>C (p.Cys248Arg)
c.735T>C (p.Ser245=)
c.790T>C (p.Cys264Arg)
c.781T>C (p.Cys261Arg)
c.733T>C (p.Cys245Arg)
c.712T>C (p.Cys238Arg)
c.700T>C (p.Cys234Arg)
n.773T>C
17g.74695764A>TCA400934995CD300LF,RAB37c.678T>A (p.Ser226=)
c.724T>A (p.Cys242Ser)
c.72+24106A>T (n.72+24106A>T)
c.574T>A (p.Cys192Ser)
c.709T>A (p.Cys237Ser)
n.479+24106A>T
c.*53T>A (n.*53T>A)
c.687T>A (p.Ser229=)
c.723T>A (p.Ser241=)
c.655T>A (p.Cys219Ser)
n.850T>A
c.810T>A (p.Ser270=)
c.801T>A (p.Ser267=)
c.765T>A (p.Ser255=)
c.756T>A (p.Ser252=)
c.732T>A (p.Ser244=)
c.787T>A (p.Cys263Ser)
c.778T>A (p.Cys260Ser)
c.742T>A (p.Cys248Ser)
c.735T>A (p.Ser245=)
c.790T>A (p.Cys264Ser)
c.781T>A (p.Cys261Ser)
c.733T>A (p.Cys245Ser)
c.712T>A (p.Cys238Ser)
c.700T>A (p.Cys234Ser)
n.773T>A
17g.74695765G>ACA8749754CD300LF,RAB37c.677C>T (p.Ser226Phe)
c.723C>T (p.Leu241=)
c.72+24107G>A (n.72+24107G>A)
c.573C>T (p.Leu191=)
c.708C>T (p.Leu236=)
n.479+24107G>A
c.*52C>T (n.*52C>T)
c.686C>T (p.Ser229Phe)
c.722C>T (p.Ser241Phe)
c.654C>T (p.Leu218=)
n.849C>T
c.809C>T (p.Ser270Phe)
c.800C>T (p.Ser267Phe)
c.764C>T (p.Ser255Phe)
c.755C>T (p.Ser252Phe)
c.731C>T (p.Ser244Phe)
c.786C>T (p.Leu262=)
c.777C>T (p.Leu259=)
c.741C>T (p.Leu247=)
c.734C>T (p.Ser245Phe)
c.789C>T (p.Leu263=)
c.780C>T (p.Leu260=)
c.732C>T (p.Leu244=)
c.711C>T (p.Leu237=)
c.699C>T (p.Leu233=)
n.772C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.74695765G>CCA400934997CD300LF,RAB37c.677C>G (p.Ser226Cys)
c.723C>G (p.Leu241=)
c.72+24107G>C (n.72+24107G>C)
c.573C>G (p.Leu191=)
c.708C>G (p.Leu236=)
n.479+24107G>C
c.*52C>G (n.*52C>G)
c.686C>G (p.Ser229Cys)
c.722C>G (p.Ser241Cys)
c.654C>G (p.Leu218=)
n.849C>G
c.809C>G (p.Ser270Cys)
c.800C>G (p.Ser267Cys)
c.764C>G (p.Ser255Cys)
c.755C>G (p.Ser252Cys)
c.731C>G (p.Ser244Cys)
c.786C>G (p.Leu262=)
c.777C>G (p.Leu259=)
c.741C>G (p.Leu247=)
c.734C>G (p.Ser245Cys)
c.789C>G (p.Leu263=)
c.780C>G (p.Leu260=)
c.732C>G (p.Leu244=)
c.711C>G (p.Leu237=)
c.699C>G (p.Leu233=)
n.772C>G
17g.74695765G=CA2275146999CD300LF,RAB37c.677C= (p.Ser226=)
c.723C= (p.Leu241=)
c.72+24107G= (n.72+24107G=)
c.573C= (p.Leu191=)
c.708C= (p.Leu236=)
n.479+24107G=
c.*52C= (n.*52C=)
c.686C= (p.Ser229=)
c.722C= (p.Ser241=)
c.654C= (p.Leu218=)
n.849C=
c.809C= (p.Ser270=)
c.800C= (p.Ser267=)
c.764C= (p.Ser255=)
c.755C= (p.Ser252=)
c.731C= (p.Ser244=)
c.786C= (p.Leu262=)
c.777C= (p.Leu259=)
c.741C= (p.Leu247=)
c.734C= (p.Ser245=)
c.789C= (p.Leu263=)
c.780C= (p.Leu260=)
c.732C= (p.Leu244=)
c.711C= (p.Leu237=)
c.699C= (p.Leu233=)
n.772C=
17g.74695765G>TCA400934996CD300LF,RAB37c.677C>A (p.Ser226Tyr)
c.723C>A (p.Leu241=)
c.72+24107G>T (n.72+24107G>T)
c.573C>A (p.Leu191=)
c.708C>A (p.Leu236=)
n.479+24107G>T
c.*52C>A (n.*52C>A)
c.686C>A (p.Ser229Tyr)
c.722C>A (p.Ser241Tyr)
c.654C>A (p.Leu218=)
n.849C>A
c.809C>A (p.Ser270Tyr)
c.800C>A (p.Ser267Tyr)
c.764C>A (p.Ser255Tyr)
c.755C>A (p.Ser252Tyr)
c.731C>A (p.Ser244Tyr)
c.786C>A (p.Leu262=)
c.777C>A (p.Leu259=)
c.741C>A (p.Leu247=)
c.734C>A (p.Ser245Tyr)
c.789C>A (p.Leu263=)
c.780C>A (p.Leu260=)
c.732C>A (p.Leu244=)
c.711C>A (p.Leu237=)
c.699C>A (p.Leu233=)
n.772C>A
17g.74695766A>CCA400934998CD300LF,RAB37c.676T>G (p.Ser226Ala)
c.722T>G (p.Leu241Arg)
c.72+24108A>C (n.72+24108A>C)
c.572T>G (p.Leu191Arg)
c.707T>G (p.Leu236Arg)
n.479+24108A>C
c.*51T>G (n.*51T>G)
c.685T>G (p.Ser229Ala)
c.721T>G (p.Ser241Ala)
c.653T>G (p.Leu218Arg)
n.848T>G
c.808T>G (p.Ser270Ala)
c.799T>G (p.Ser267Ala)
c.763T>G (p.Ser255Ala)
c.754T>G (p.Ser252Ala)
c.730T>G (p.Ser244Ala)
c.785T>G (p.Leu262Arg)
c.776T>G (p.Leu259Arg)
c.740T>G (p.Leu247Arg)
c.733T>G (p.Ser245Ala)
c.788T>G (p.Leu263Arg)
c.779T>G (p.Leu260Arg)
c.731T>G (p.Leu244Arg)
c.710T>G (p.Leu237Arg)
c.698T>G (p.Leu233Arg)
n.771T>G
17g.74695766A>GCA400934999CD300LF,RAB37c.676T>C (p.Ser226Pro)
c.722T>C (p.Leu241Pro)
c.72+24108A>G (n.72+24108A>G)
c.572T>C (p.Leu191Pro)
c.707T>C (p.Leu236Pro)
n.479+24108A>G
c.*51T>C (n.*51T>C)
c.685T>C (p.Ser229Pro)
c.721T>C (p.Ser241Pro)
c.653T>C (p.Leu218Pro)
n.848T>C
c.808T>C (p.Ser270Pro)
c.799T>C (p.Ser267Pro)
c.763T>C (p.Ser255Pro)
c.754T>C (p.Ser252Pro)
c.730T>C (p.Ser244Pro)
c.785T>C (p.Leu262Pro)
c.776T>C (p.Leu259Pro)
c.740T>C (p.Leu247Pro)
c.733T>C (p.Ser245Pro)
c.788T>C (p.Leu263Pro)
c.779T>C (p.Leu260Pro)
c.731T>C (p.Leu244Pro)
c.710T>C (p.Leu237Pro)
c.698T>C (p.Leu233Pro)
n.771T>C
17g.74695766A>TCA400935000CD300LF,RAB37c.676T>A (p.Ser226Thr)
c.722T>A (p.Leu241His)
c.72+24108A>T (n.72+24108A>T)
c.572T>A (p.Leu191His)
c.707T>A (p.Leu236His)
n.479+24108A>T
c.*51T>A (n.*51T>A)
c.685T>A (p.Ser229Thr)
c.721T>A (p.Ser241Thr)
c.653T>A (p.Leu218His)
n.848T>A
c.808T>A (p.Ser270Thr)
c.799T>A (p.Ser267Thr)
c.763T>A (p.Ser255Thr)
c.754T>A (p.Ser252Thr)
c.730T>A (p.Ser244Thr)
c.785T>A (p.Leu262His)
c.776T>A (p.Leu259His)
c.740T>A (p.Leu247His)
c.733T>A (p.Ser245Thr)
c.788T>A (p.Leu263His)
c.779T>A (p.Leu260His)
c.731T>A (p.Leu244His)
c.710T>A (p.Leu237His)
c.698T>A (p.Leu233His)
n.771T>A
17g.74695767G>ACA400935001CD300LF,RAB37c.675C>T (p.Ser225=)
c.721C>T (p.Leu241Phe)
c.72+24109G>A (n.72+24109G>A)
c.571C>T (p.Leu191Phe)
c.706C>T (p.Leu236Phe)
n.479+24109G>A
c.*50C>T (n.*50C>T)
c.684C>T (p.Ser228=)
c.720C>T (p.Ser240=)
c.652C>T (p.Leu218Phe)
n.847C>T
c.807C>T (p.Ser269=)
c.798C>T (p.Ser266=)
c.762C>T (p.Ser254=)
c.753C>T (p.Ser251=)
c.729C>T (p.Ser243=)
c.784C>T (p.Leu262Phe)
c.775C>T (p.Leu259Phe)
c.739C>T (p.Leu247Phe)
c.732C>T (p.Ser244=)
c.787C>T (p.Leu263Phe)
c.778C>T (p.Leu260Phe)
c.730C>T (p.Leu244Phe)
c.709C>T (p.Leu237Phe)
c.697C>T (p.Leu233Phe)
n.770C>T
17g.74695767G>CCA400935002CD300LF,RAB37c.675C>G (p.Ser225=)
c.721C>G (p.Leu241Val)
c.72+24109G>C (n.72+24109G>C)
c.571C>G (p.Leu191Val)
c.706C>G (p.Leu236Val)
n.479+24109G>C
c.*50C>G (n.*50C>G)
c.684C>G (p.Ser228=)
c.720C>G (p.Ser240=)
c.652C>G (p.Leu218Val)
n.847C>G
c.807C>G (p.Ser269=)
c.798C>G (p.Ser266=)
c.762C>G (p.Ser254=)
c.753C>G (p.Ser251=)
c.729C>G (p.Ser243=)
c.784C>G (p.Leu262Val)
c.775C>G (p.Leu259Val)
c.739C>G (p.Leu247Val)
c.732C>G (p.Ser244=)
c.787C>G (p.Leu263Val)
c.778C>G (p.Leu260Val)
c.730C>G (p.Leu244Val)
c.709C>G (p.Leu237Val)
c.697C>G (p.Leu233Val)
n.770C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695767G=CA2275147000CD300LF,RAB37c.675C= (p.Ser225=)
c.721C= (p.Leu241=)
c.72+24109G= (n.72+24109G=)
c.571C= (p.Leu191=)
c.706C= (p.Leu236=)
n.479+24109G=
c.*50C= (n.*50C=)
c.684C= (p.Ser228=)
c.720C= (p.Ser240=)
c.652C= (p.Leu218=)
n.847C=
c.807C= (p.Ser269=)
c.798C= (p.Ser266=)
c.762C= (p.Ser254=)
c.753C= (p.Ser251=)
c.729C= (p.Ser243=)
c.784C= (p.Leu262=)
c.775C= (p.Leu259=)
c.739C= (p.Leu247=)
c.732C= (p.Ser244=)
c.787C= (p.Leu263=)
c.778C= (p.Leu260=)
c.730C= (p.Leu244=)
c.709C= (p.Leu237=)
c.697C= (p.Leu233=)
n.770C=
17g.74695767G>TCA400935003CD300LF,RAB37c.675C>A (p.Ser225=)
c.721C>A (p.Leu241Ile)
c.72+24109G>T (n.72+24109G>T)
c.571C>A (p.Leu191Ile)
c.706C>A (p.Leu236Ile)
n.479+24109G>T
c.*50C>A (n.*50C>A)
c.684C>A (p.Ser228=)
c.720C>A (p.Ser240=)
c.652C>A (p.Leu218Ile)
n.847C>A
c.807C>A (p.Ser269=)
c.798C>A (p.Ser266=)
c.762C>A (p.Ser254=)
c.753C>A (p.Ser251=)
c.729C>A (p.Ser243=)
c.784C>A (p.Leu262Ile)
c.775C>A (p.Leu259Ile)
c.739C>A (p.Leu247Ile)
c.732C>A (p.Ser244=)
c.787C>A (p.Leu263Ile)
c.778C>A (p.Leu260Ile)
c.730C>A (p.Leu244Ile)
c.709C>A (p.Leu237Ile)
c.697C>A (p.Leu233Ile)
n.770C>A
17g.74695768G>ACA400935004CD300LF,RAB37c.674C>T (p.Ser225Phe)
c.720C>T (p.Phe240=)
c.72+24110G>A (n.72+24110G>A)
c.570C>T (p.Phe190=)
c.705C>T (p.Phe235=)
n.479+24110G>A
c.*49C>T (n.*49C>T)
c.683C>T (p.Ser228Phe)
c.719C>T (p.Ser240Phe)
c.651C>T (p.Phe217=)
n.846C>T
c.806C>T (p.Ser269Phe)
c.797C>T (p.Ser266Phe)
c.761C>T (p.Ser254Phe)
c.752C>T (p.Ser251Phe)
c.728C>T (p.Ser243Phe)
c.783C>T (p.Phe261=)
c.774C>T (p.Phe258=)
c.738C>T (p.Phe246=)
c.731C>T (p.Ser244Phe)
c.786C>T (p.Phe262=)
c.777C>T (p.Phe259=)
c.729C>T (p.Phe243=)
c.708C>T (p.Phe236=)
c.696C>T (p.Phe232=)
n.769C>T
 dbSNP gnomAD v4 COSMIC COSMIC
17g.74695768G>CCA400935005CD300LF,RAB37c.674C>G (p.Ser225Cys)
c.720C>G (p.Phe240Leu)
c.72+24110G>C (n.72+24110G>C)
c.570C>G (p.Phe190Leu)
c.705C>G (p.Phe235Leu)
n.479+24110G>C
c.*49C>G (n.*49C>G)
c.683C>G (p.Ser228Cys)
c.719C>G (p.Ser240Cys)
c.651C>G (p.Phe217Leu)
n.846C>G
c.806C>G (p.Ser269Cys)
c.797C>G (p.Ser266Cys)
c.761C>G (p.Ser254Cys)
c.752C>G (p.Ser251Cys)
c.728C>G (p.Ser243Cys)
c.783C>G (p.Phe261Leu)
c.774C>G (p.Phe258Leu)
c.738C>G (p.Phe246Leu)
c.731C>G (p.Ser244Cys)
c.786C>G (p.Phe262Leu)
c.777C>G (p.Phe259Leu)
c.729C>G (p.Phe243Leu)
c.708C>G (p.Phe236Leu)
c.696C>G (p.Phe232Leu)
n.769C>G
17g.74695768G=CA2275147001CD300LF,RAB37c.674C= (p.Ser225=)
c.720C= (p.Phe240=)
c.72+24110G= (n.72+24110G=)
c.570C= (p.Phe190=)
c.705C= (p.Phe235=)
n.479+24110G=
c.*49C= (n.*49C=)
c.683C= (p.Ser228=)
c.719C= (p.Ser240=)
c.651C= (p.Phe217=)
n.846C=
c.806C= (p.Ser269=)
c.797C= (p.Ser266=)
c.761C= (p.Ser254=)
c.752C= (p.Ser251=)
c.728C= (p.Ser243=)
c.783C= (p.Phe261=)
c.774C= (p.Phe258=)
c.738C= (p.Phe246=)
c.731C= (p.Ser244=)
c.786C= (p.Phe262=)
c.777C= (p.Phe259=)
c.729C= (p.Phe243=)
c.708C= (p.Phe236=)
c.696C= (p.Phe232=)
n.769C=
17g.74695768G>TCA400935006CD300LF,RAB37c.674C>A (p.Ser225Tyr)
c.720C>A (p.Phe240Leu)
c.72+24110G>T (n.72+24110G>T)
c.570C>A (p.Phe190Leu)
c.705C>A (p.Phe235Leu)
n.479+24110G>T
c.*49C>A (n.*49C>A)
c.683C>A (p.Ser228Tyr)
c.719C>A (p.Ser240Tyr)
c.651C>A (p.Phe217Leu)
n.846C>A
c.806C>A (p.Ser269Tyr)
c.797C>A (p.Ser266Tyr)
c.761C>A (p.Ser254Tyr)
c.752C>A (p.Ser251Tyr)
c.728C>A (p.Ser243Tyr)
c.783C>A (p.Phe261Leu)
c.774C>A (p.Phe258Leu)
c.738C>A (p.Phe246Leu)
c.731C>A (p.Ser244Tyr)
c.786C>A (p.Phe262Leu)
c.777C>A (p.Phe259Leu)
c.729C>A (p.Phe243Leu)
c.708C>A (p.Phe236Leu)
c.696C>A (p.Phe232Leu)
n.769C>A
17g.74695769A>CCA400935009CD300LF,RAB37c.673T>G (p.Ser225Ala)
c.719T>G (p.Phe240Cys)
c.72+24111A>C (n.72+24111A>C)
c.569T>G (p.Phe190Cys)
c.704T>G (p.Phe235Cys)
n.479+24111A>C
c.*48T>G (n.*48T>G)
c.682T>G (p.Ser228Ala)
c.718T>G (p.Ser240Ala)
c.650T>G (p.Phe217Cys)
n.845T>G
c.805T>G (p.Ser269Ala)
c.796T>G (p.Ser266Ala)
c.760T>G (p.Ser254Ala)
c.751T>G (p.Ser251Ala)
c.727T>G (p.Ser243Ala)
c.782T>G (p.Phe261Cys)
c.773T>G (p.Phe258Cys)
c.737T>G (p.Phe246Cys)
c.730T>G (p.Ser244Ala)
c.785T>G (p.Phe262Cys)
c.776T>G (p.Phe259Cys)
c.728T>G (p.Phe243Cys)
c.707T>G (p.Phe236Cys)
c.695T>G (p.Phe232Cys)
n.768T>G
17g.74695769A>GCA400935008CD300LF,RAB37c.673T>C (p.Ser225Pro)
c.719T>C (p.Phe240Ser)
c.72+24111A>G (n.72+24111A>G)
c.569T>C (p.Phe190Ser)
c.704T>C (p.Phe235Ser)
n.479+24111A>G
c.*48T>C (n.*48T>C)
c.682T>C (p.Ser228Pro)
c.718T>C (p.Ser240Pro)
c.650T>C (p.Phe217Ser)
n.845T>C
c.805T>C (p.Ser269Pro)
c.796T>C (p.Ser266Pro)
c.760T>C (p.Ser254Pro)
c.751T>C (p.Ser251Pro)
c.727T>C (p.Ser243Pro)
c.782T>C (p.Phe261Ser)
c.773T>C (p.Phe258Ser)
c.737T>C (p.Phe246Ser)
c.730T>C (p.Ser244Pro)
c.785T>C (p.Phe262Ser)
c.776T>C (p.Phe259Ser)
c.728T>C (p.Phe243Ser)
c.707T>C (p.Phe236Ser)
c.695T>C (p.Phe232Ser)
n.768T>C
17g.74695769A>TCA400935007CD300LF,RAB37c.673T>A (p.Ser225Thr)
c.719T>A (p.Phe240Tyr)
c.72+24111A>T (n.72+24111A>T)
c.569T>A (p.Phe190Tyr)
c.704T>A (p.Phe235Tyr)
n.479+24111A>T
c.*48T>A (n.*48T>A)
c.682T>A (p.Ser228Thr)
c.718T>A (p.Ser240Thr)
c.650T>A (p.Phe217Tyr)
n.845T>A
c.805T>A (p.Ser269Thr)
c.796T>A (p.Ser266Thr)
c.760T>A (p.Ser254Thr)
c.751T>A (p.Ser251Thr)
c.727T>A (p.Ser243Thr)
c.782T>A (p.Phe261Tyr)
c.773T>A (p.Phe258Tyr)
c.737T>A (p.Phe246Tyr)
c.730T>A (p.Ser244Thr)
c.785T>A (p.Phe262Tyr)
c.776T>A (p.Phe259Tyr)
c.728T>A (p.Phe243Tyr)
c.707T>A (p.Phe236Tyr)
c.695T>A (p.Phe232Tyr)
n.768T>A
17g.74695770A>CCA400935010CD300LF,RAB37c.672T>G (p.Leu224=)
c.718T>G (p.Phe240Val)
c.72+24112A>C (n.72+24112A>C)
c.568T>G (p.Phe190Val)
c.703T>G (p.Phe235Val)
n.479+24112A>C
c.*47T>G (n.*47T>G)
c.681T>G (p.Leu227=)
c.717T>G (p.Leu239=)
c.649T>G (p.Phe217Val)
n.844T>G
c.804T>G (p.Leu268=)
c.795T>G (p.Leu265=)
c.759T>G (p.Leu253=)
c.750T>G (p.Leu250=)
c.726T>G (p.Leu242=)
c.781T>G (p.Phe261Val)
c.772T>G (p.Phe258Val)
c.736T>G (p.Phe246Val)
c.729T>G (p.Leu243=)
c.784T>G (p.Phe262Val)
c.775T>G (p.Phe259Val)
c.727T>G (p.Phe243Val)
c.706T>G (p.Phe236Val)
c.694T>G (p.Phe232Val)
n.767T>G
17g.74695770A>GCA400935011CD300LF,RAB37c.672T>C (p.Leu224=)
c.718T>C (p.Phe240Leu)
c.72+24112A>G (n.72+24112A>G)
c.568T>C (p.Phe190Leu)
c.703T>C (p.Phe235Leu)
n.479+24112A>G
c.*47T>C (n.*47T>C)
c.681T>C (p.Leu227=)
c.717T>C (p.Leu239=)
c.649T>C (p.Phe217Leu)
n.844T>C
c.804T>C (p.Leu268=)
c.795T>C (p.Leu265=)
c.759T>C (p.Leu253=)
c.750T>C (p.Leu250=)
c.726T>C (p.Leu242=)
c.781T>C (p.Phe261Leu)
c.772T>C (p.Phe258Leu)
c.736T>C (p.Phe246Leu)
c.729T>C (p.Leu243=)
c.784T>C (p.Phe262Leu)
c.775T>C (p.Phe259Leu)
c.727T>C (p.Phe243Leu)
c.706T>C (p.Phe236Leu)
c.694T>C (p.Phe232Leu)
n.767T>C
 gnomAD v4
17g.74695770A>TCA400935012CD300LF,RAB37c.672T>A (p.Leu224=)
c.718T>A (p.Phe240Ile)
c.72+24112A>T (n.72+24112A>T)
c.568T>A (p.Phe190Ile)
c.703T>A (p.Phe235Ile)
n.479+24112A>T
c.*47T>A (n.*47T>A)
c.681T>A (p.Leu227=)
c.717T>A (p.Leu239=)
c.649T>A (p.Phe217Ile)
n.844T>A
c.804T>A (p.Leu268=)
c.795T>A (p.Leu265=)
c.759T>A (p.Leu253=)
c.750T>A (p.Leu250=)
c.726T>A (p.Leu242=)
c.781T>A (p.Phe261Ile)
c.772T>A (p.Phe258Ile)
c.736T>A (p.Phe246Ile)
c.729T>A (p.Leu243=)
c.784T>A (p.Phe262Ile)
c.775T>A (p.Phe259Ile)
c.727T>A (p.Phe243Ile)
c.706T>A (p.Phe236Ile)
c.694T>A (p.Phe232Ile)
n.767T>A
17g.74695771A>CCA400935013CD300LF,RAB37c.671T>G (p.Leu224Arg)
c.717T>G (p.Ala239=)
c.72+24113A>C (n.72+24113A>C)
c.567T>G (p.Ala189=)
c.702T>G (p.Ala234=)
n.479+24113A>C
c.*46T>G (n.*46T>G)
c.680T>G (p.Leu227Arg)
c.716T>G (p.Leu239Arg)
c.648T>G (p.Ala216=)
n.843T>G
c.803T>G (p.Leu268Arg)
c.794T>G (p.Leu265Arg)
c.758T>G (p.Leu253Arg)
c.749T>G (p.Leu250Arg)
c.725T>G (p.Leu242Arg)
c.780T>G (p.Ala260=)
c.771T>G (p.Ala257=)
c.735T>G (p.Ala245=)
c.728T>G (p.Leu243Arg)
c.783T>G (p.Ala261=)
c.774T>G (p.Ala258=)
c.726T>G (p.Ala242=)
c.705T>G (p.Ala235=)
c.693T>G (p.Ala231=)
n.766T>G
 dbSNP gnomAD v4
17g.74695771A>GCA400935014CD300LF,RAB37c.671T>C (p.Leu224Pro)
c.717T>C (p.Ala239=)
c.72+24113A>G (n.72+24113A>G)
c.567T>C (p.Ala189=)
c.702T>C (p.Ala234=)
n.479+24113A>G
c.*46T>C (n.*46T>C)
c.680T>C (p.Leu227Pro)
c.716T>C (p.Leu239Pro)
c.648T>C (p.Ala216=)
n.843T>C
c.803T>C (p.Leu268Pro)
c.794T>C (p.Leu265Pro)
c.758T>C (p.Leu253Pro)
c.749T>C (p.Leu250Pro)
c.725T>C (p.Leu242Pro)
c.780T>C (p.Ala260=)
c.771T>C (p.Ala257=)
c.735T>C (p.Ala245=)
c.728T>C (p.Leu243Pro)
c.783T>C (p.Ala261=)
c.774T>C (p.Ala258=)
c.726T>C (p.Ala242=)
c.705T>C (p.Ala235=)
c.693T>C (p.Ala231=)
n.766T>C
17g.74695771A>TCA400935015CD300LF,RAB37c.671T>A (p.Leu224His)
c.717T>A (p.Ala239=)
c.72+24113A>T (n.72+24113A>T)
c.567T>A (p.Ala189=)
c.702T>A (p.Ala234=)
n.479+24113A>T
c.*46T>A (n.*46T>A)
c.680T>A (p.Leu227His)
c.716T>A (p.Leu239His)
c.648T>A (p.Ala216=)
n.843T>A
c.803T>A (p.Leu268His)
c.794T>A (p.Leu265His)
c.758T>A (p.Leu253His)
c.749T>A (p.Leu250His)
c.725T>A (p.Leu242His)
c.780T>A (p.Ala260=)
c.771T>A (p.Ala257=)
c.735T>A (p.Ala245=)
c.728T>A (p.Leu243His)
c.783T>A (p.Ala261=)
c.774T>A (p.Ala258=)
c.726T>A (p.Ala242=)
c.705T>A (p.Ala235=)
c.693T>A (p.Ala231=)
n.766T>A
 COSMIC COSMIC COSMIC
17g.74695772G>ACA400935016CD300LF,RAB37c.670C>T (p.Leu224Phe)
c.716C>T (p.Ala239Val)
c.72+24114G>A (n.72+24114G>A)
c.566C>T (p.Ala189Val)
c.701C>T (p.Ala234Val)
n.479+24114G>A
c.*45C>T (n.*45C>T)
c.679C>T (p.Leu227Phe)
c.715C>T (p.Leu239Phe)
c.647C>T (p.Ala216Val)
n.842C>T
c.802C>T (p.Leu268Phe)
c.793C>T (p.Leu265Phe)
c.757C>T (p.Leu253Phe)
c.748C>T (p.Leu250Phe)
c.724C>T (p.Leu242Phe)
c.779C>T (p.Ala260Val)
c.770C>T (p.Ala257Val)
c.734C>T (p.Ala245Val)
c.727C>T (p.Leu243Phe)
c.782C>T (p.Ala261Val)
c.773C>T (p.Ala258Val)
c.725C>T (p.Ala242Val)
c.704C>T (p.Ala235Val)
c.692C>T (p.Ala231Val)
n.765C>T
17g.74695772G>CCA400935017CD300LF,RAB37c.670C>G (p.Leu224Val)
c.716C>G (p.Ala239Gly)
c.72+24114G>C (n.72+24114G>C)
c.566C>G (p.Ala189Gly)
c.701C>G (p.Ala234Gly)
n.479+24114G>C
c.*45C>G (n.*45C>G)
c.679C>G (p.Leu227Val)
c.715C>G (p.Leu239Val)
c.647C>G (p.Ala216Gly)
n.842C>G
c.802C>G (p.Leu268Val)
c.793C>G (p.Leu265Val)
c.757C>G (p.Leu253Val)
c.748C>G (p.Leu250Val)
c.724C>G (p.Leu242Val)
c.779C>G (p.Ala260Gly)
c.770C>G (p.Ala257Gly)
c.734C>G (p.Ala245Gly)
c.727C>G (p.Leu243Val)
c.782C>G (p.Ala261Gly)
c.773C>G (p.Ala258Gly)
c.725C>G (p.Ala242Gly)
c.704C>G (p.Ala235Gly)
c.692C>G (p.Ala231Gly)
n.765C>G
17g.74695772G=CA2275147002CD300LF,RAB37c.670C= (p.Leu224=)
c.716C= (p.Ala239=)
c.72+24114G= (n.72+24114G=)
c.566C= (p.Ala189=)
c.701C= (p.Ala234=)
n.479+24114G=
c.*45C= (n.*45C=)
c.679C= (p.Leu227=)
c.715C= (p.Leu239=)
c.647C= (p.Ala216=)
n.842C=
c.802C= (p.Leu268=)
c.793C= (p.Leu265=)
c.757C= (p.Leu253=)
c.748C= (p.Leu250=)
c.724C= (p.Leu242=)
c.779C= (p.Ala260=)
c.770C= (p.Ala257=)
c.734C= (p.Ala245=)
c.727C= (p.Leu243=)
c.782C= (p.Ala261=)
c.773C= (p.Ala258=)
c.725C= (p.Ala242=)
c.704C= (p.Ala235=)
c.692C= (p.Ala231=)
n.765C=
17g.74695772G>TCA400935018CD300LF,RAB37c.670C>A (p.Leu224Ile)
c.716C>A (p.Ala239Asp)
c.72+24114G>T (n.72+24114G>T)
c.566C>A (p.Ala189Asp)
c.701C>A (p.Ala234Asp)
n.479+24114G>T
c.*45C>A (n.*45C>A)
c.679C>A (p.Leu227Ile)
c.715C>A (p.Leu239Ile)
c.647C>A (p.Ala216Asp)
n.842C>A
c.802C>A (p.Leu268Ile)
c.793C>A (p.Leu265Ile)
c.757C>A (p.Leu253Ile)
c.748C>A (p.Leu250Ile)
c.724C>A (p.Leu242Ile)
c.779C>A (p.Ala260Asp)
c.770C>A (p.Ala257Asp)
c.734C>A (p.Ala245Asp)
c.727C>A (p.Leu243Ile)
c.782C>A (p.Ala261Asp)
c.773C>A (p.Ala258Asp)
c.725C>A (p.Ala242Asp)
c.704C>A (p.Ala235Asp)
c.692C>A (p.Ala231Asp)
n.765C>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695773C>ACA400935019CD300LF,RAB37c.669G>T (p.Lys223Asn)
c.715G>T (p.Ala239Ser)
c.72+24115C>A (n.72+24115C>A)
c.565G>T (p.Ala189Ser)
c.700G>T (p.Ala234Ser)
n.479+24115C>A
c.*44G>T (n.*44G>T)
c.678G>T (p.Lys226Asn)
c.714G>T (p.Lys238Asn)
c.646G>T (p.Ala216Ser)
n.841G>T
c.801G>T (p.Lys267Asn)
c.792G>T (p.Lys264Asn)
c.756G>T (p.Lys252Asn)
c.747G>T (p.Lys249Asn)
c.723G>T (p.Lys241Asn)
c.778G>T (p.Ala260Ser)
c.769G>T (p.Ala257Ser)
c.733G>T (p.Ala245Ser)
c.726G>T (p.Lys242Asn)
c.781G>T (p.Ala261Ser)
c.772G>T (p.Ala258Ser)
c.724G>T (p.Ala242Ser)
c.703G>T (p.Ala235Ser)
c.691G>T (p.Ala231Ser)
n.764G>T
17g.74695773C=CA2275147003CD300LF,RAB37c.669G= (p.Lys223=)
c.715G= (p.Ala239=)
c.72+24115C= (n.72+24115C=)
c.565G= (p.Ala189=)
c.700G= (p.Ala234=)
n.479+24115C=
c.*44G= (n.*44G=)
c.678G= (p.Lys226=)
c.714G= (p.Lys238=)
c.646G= (p.Ala216=)
n.841G=
c.801G= (p.Lys267=)
c.792G= (p.Lys264=)
c.756G= (p.Lys252=)
c.747G= (p.Lys249=)
c.723G= (p.Lys241=)
c.778G= (p.Ala260=)
c.769G= (p.Ala257=)
c.733G= (p.Ala245=)
c.726G= (p.Lys242=)
c.781G= (p.Ala261=)
c.772G= (p.Ala258=)
c.724G= (p.Ala242=)
c.703G= (p.Ala235=)
c.691G= (p.Ala231=)
n.764G=
17g.74695773C>GCA400935020CD300LF,RAB37c.669G>C (p.Lys223Asn)
c.715G>C (p.Ala239Pro)
c.72+24115C>G (n.72+24115C>G)
c.565G>C (p.Ala189Pro)
c.700G>C (p.Ala234Pro)
n.479+24115C>G
c.*44G>C (n.*44G>C)
c.678G>C (p.Lys226Asn)
c.714G>C (p.Lys238Asn)
c.646G>C (p.Ala216Pro)
n.841G>C
c.801G>C (p.Lys267Asn)
c.792G>C (p.Lys264Asn)
c.756G>C (p.Lys252Asn)
c.747G>C (p.Lys249Asn)
c.723G>C (p.Lys241Asn)
c.778G>C (p.Ala260Pro)
c.769G>C (p.Ala257Pro)
c.733G>C (p.Ala245Pro)
c.726G>C (p.Lys242Asn)
c.781G>C (p.Ala261Pro)
c.772G>C (p.Ala258Pro)
c.724G>C (p.Ala242Pro)
c.703G>C (p.Ala235Pro)
c.691G>C (p.Ala231Pro)
n.764G>C
17g.74695773C>TCA8749755CD300LF,RAB37c.669G>A (p.Lys223=)
c.715G>A (p.Ala239Thr)
c.72+24115C>T (n.72+24115C>T)
c.565G>A (p.Ala189Thr)
c.700G>A (p.Ala234Thr)
n.479+24115C>T
c.*44G>A (n.*44G>A)
c.678G>A (p.Lys226=)
c.714G>A (p.Lys238=)
c.646G>A (p.Ala216Thr)
n.841G>A
c.801G>A (p.Lys267=)
c.792G>A (p.Lys264=)
c.756G>A (p.Lys252=)
c.747G>A (p.Lys249=)
c.723G>A (p.Lys241=)
c.778G>A (p.Ala260Thr)
c.769G>A (p.Ala257Thr)
c.733G>A (p.Ala245Thr)
c.726G>A (p.Lys242=)
c.781G>A (p.Ala261Thr)
c.772G>A (p.Ala258Thr)
c.724G>A (p.Ala242Thr)
c.703G>A (p.Ala235Thr)
c.691G>A (p.Ala231Thr)
n.764G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695774T>ACA400935023CD300LF,RAB37c.668A>T (p.Lys223Met)
c.714A>T (p.Glu238Asp)
c.72+24116T>A (n.72+24116T>A)
c.564A>T (p.Glu188Asp)
c.699A>T (p.Glu233Asp)
n.479+24116T>A
c.*43A>T (n.*43A>T)
c.677A>T (p.Lys226Met)
c.713A>T (p.Lys238Met)
c.645A>T (p.Glu215Asp)
n.840A>T
c.800A>T (p.Lys267Met)
c.791A>T (p.Lys264Met)
c.755A>T (p.Lys252Met)
c.746A>T (p.Lys249Met)
c.722A>T (p.Lys241Met)
c.777A>T (p.Glu259Asp)
c.768A>T (p.Glu256Asp)
c.732A>T (p.Glu244Asp)
c.725A>T (p.Lys242Met)
c.780A>T (p.Glu260Asp)
c.771A>T (p.Glu257Asp)
c.723A>T (p.Glu241Asp)
c.702A>T (p.Glu234Asp)
c.690A>T (p.Glu230Asp)
n.763A>T
17g.74695774T>CCA400935021CD300LF,RAB37c.668A>G (p.Lys223Arg)
c.714A>G (p.Glu238=)
c.72+24116T>C (n.72+24116T>C)
c.564A>G (p.Glu188=)
c.699A>G (p.Glu233=)
n.479+24116T>C
c.*43A>G (n.*43A>G)
c.677A>G (p.Lys226Arg)
c.713A>G (p.Lys238Arg)
c.645A>G (p.Glu215=)
n.840A>G
c.800A>G (p.Lys267Arg)
c.791A>G (p.Lys264Arg)
c.755A>G (p.Lys252Arg)
c.746A>G (p.Lys249Arg)
c.722A>G (p.Lys241Arg)
c.777A>G (p.Glu259=)
c.768A>G (p.Glu256=)
c.732A>G (p.Glu244=)
c.725A>G (p.Lys242Arg)
c.780A>G (p.Glu260=)
c.771A>G (p.Glu257=)
c.723A>G (p.Glu241=)
c.702A>G (p.Glu234=)
c.690A>G (p.Glu230=)
n.763A>G
17g.74695774T>GCA400935022CD300LF,RAB37c.668A>C (p.Lys223Thr)
c.714A>C (p.Glu238Asp)
c.72+24116T>G (n.72+24116T>G)
c.564A>C (p.Glu188Asp)
c.699A>C (p.Glu233Asp)
n.479+24116T>G
c.*43A>C (n.*43A>C)
c.677A>C (p.Lys226Thr)
c.713A>C (p.Lys238Thr)
c.645A>C (p.Glu215Asp)
n.840A>C
c.800A>C (p.Lys267Thr)
c.791A>C (p.Lys264Thr)
c.755A>C (p.Lys252Thr)
c.746A>C (p.Lys249Thr)
c.722A>C (p.Lys241Thr)
c.777A>C (p.Glu259Asp)
c.768A>C (p.Glu256Asp)
c.732A>C (p.Glu244Asp)
c.725A>C (p.Lys242Thr)
c.780A>C (p.Glu260Asp)
c.771A>C (p.Glu257Asp)
c.723A>C (p.Glu241Asp)
c.702A>C (p.Glu234Asp)
c.690A>C (p.Glu230Asp)
n.763A>C
17g.74695775T>ACA400935024CD300LF,RAB37c.667A>T (p.Lys223Ter)
c.713A>T (p.Glu238Val)
c.72+24117T>A (n.72+24117T>A)
c.563A>T (p.Glu188Val)
c.698A>T (p.Glu233Val)
n.479+24117T>A
c.*42A>T (n.*42A>T)
c.676A>T (p.Lys226Ter)
c.712A>T (p.Lys238Ter)
c.644A>T (p.Glu215Val)
n.839A>T
c.799A>T (p.Lys267Ter)
c.790A>T (p.Lys264Ter)
c.754A>T (p.Lys252Ter)
c.745A>T (p.Lys249Ter)
c.721A>T (p.Lys241Ter)
c.776A>T (p.Glu259Val)
c.767A>T (p.Glu256Val)
c.731A>T (p.Glu244Val)
c.724A>T (p.Lys242Ter)
c.779A>T (p.Glu260Val)
c.770A>T (p.Glu257Val)
c.722A>T (p.Glu241Val)
c.701A>T (p.Glu234Val)
c.689A>T (p.Glu230Val)
n.762A>T
 gnomAD v4
17g.74695775T>CCA400935025CD300LF,RAB37c.667A>G (p.Lys223Glu)
c.713A>G (p.Glu238Gly)
c.72+24117T>C (n.72+24117T>C)
c.563A>G (p.Glu188Gly)
c.698A>G (p.Glu233Gly)
n.479+24117T>C
c.*42A>G (n.*42A>G)
c.676A>G (p.Lys226Glu)
c.712A>G (p.Lys238Glu)
c.644A>G (p.Glu215Gly)
n.839A>G
c.799A>G (p.Lys267Glu)
c.790A>G (p.Lys264Glu)
c.754A>G (p.Lys252Glu)
c.745A>G (p.Lys249Glu)
c.721A>G (p.Lys241Glu)
c.776A>G (p.Glu259Gly)
c.767A>G (p.Glu256Gly)
c.731A>G (p.Glu244Gly)
c.724A>G (p.Lys242Glu)
c.779A>G (p.Glu260Gly)
c.770A>G (p.Glu257Gly)
c.722A>G (p.Glu241Gly)
c.701A>G (p.Glu234Gly)
c.689A>G (p.Glu230Gly)
n.762A>G
17g.74695775T>GCA400935026CD300LF,RAB37c.667A>C (p.Lys223Gln)
c.713A>C (p.Glu238Ala)
c.72+24117T>G (n.72+24117T>G)
c.563A>C (p.Glu188Ala)
c.698A>C (p.Glu233Ala)
n.479+24117T>G
c.*42A>C (n.*42A>C)
c.676A>C (p.Lys226Gln)
c.712A>C (p.Lys238Gln)
c.644A>C (p.Glu215Ala)
n.839A>C
c.799A>C (p.Lys267Gln)
c.790A>C (p.Lys264Gln)
c.754A>C (p.Lys252Gln)
c.745A>C (p.Lys249Gln)
c.721A>C (p.Lys241Gln)
c.776A>C (p.Glu259Ala)
c.767A>C (p.Glu256Ala)
c.731A>C (p.Glu244Ala)
c.724A>C (p.Lys242Gln)
c.779A>C (p.Glu260Ala)
c.770A>C (p.Glu257Ala)
c.722A>C (p.Glu241Ala)
c.701A>C (p.Glu234Ala)
c.689A>C (p.Glu230Ala)
n.762A>C
17g.74695776C>ACA8749756CD300LF,RAB37c.666G>T (p.Thr222=)
c.712G>T (p.Glu238Ter)
c.72+24118C>A (n.72+24118C>A)
c.562G>T (p.Glu188Ter)
c.697G>T (p.Glu233Ter)
n.479+24118C>A
c.*41G>T (n.*41G>T)
c.675G>T (p.Thr225=)
c.711G>T (p.Thr237=)
c.643G>T (p.Glu215Ter)
n.838G>T
c.798G>T (p.Thr266=)
c.789G>T (p.Thr263=)
c.753G>T (p.Thr251=)
c.744G>T (p.Thr248=)
c.720G>T (p.Thr240=)
c.775G>T (p.Glu259Ter)
c.766G>T (p.Glu256Ter)
c.730G>T (p.Glu244Ter)
c.723G>T (p.Thr241=)
c.778G>T (p.Glu260Ter)
c.769G>T (p.Glu257Ter)
c.721G>T (p.Glu241Ter)
c.700G>T (p.Glu234Ter)
c.688G>T (p.Glu230Ter)
n.761G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695776C=CA2275147004CD300LF,RAB37c.666G= (p.Thr222=)
c.712G= (p.Glu238=)
c.72+24118C= (n.72+24118C=)
c.562G= (p.Glu188=)
c.697G= (p.Glu233=)
n.479+24118C=
c.*41G= (n.*41G=)
c.675G= (p.Thr225=)
c.711G= (p.Thr237=)
c.643G= (p.Glu215=)
n.838G=
c.798G= (p.Thr266=)
c.789G= (p.Thr263=)
c.753G= (p.Thr251=)
c.744G= (p.Thr248=)
c.720G= (p.Thr240=)
c.775G= (p.Glu259=)
c.766G= (p.Glu256=)
c.730G= (p.Glu244=)
c.723G= (p.Thr241=)
c.778G= (p.Glu260=)
c.769G= (p.Glu257=)
c.721G= (p.Glu241=)
c.700G= (p.Glu234=)
c.688G= (p.Glu230=)
n.761G=
17g.74695776C>GCA400935027CD300LF,RAB37c.666G>C (p.Thr222=)
c.712G>C (p.Glu238Gln)
c.72+24118C>G (n.72+24118C>G)
c.562G>C (p.Glu188Gln)
c.697G>C (p.Glu233Gln)
n.479+24118C>G
c.*41G>C (n.*41G>C)
c.675G>C (p.Thr225=)
c.711G>C (p.Thr237=)
c.643G>C (p.Glu215Gln)
n.838G>C
c.798G>C (p.Thr266=)
c.789G>C (p.Thr263=)
c.753G>C (p.Thr251=)
c.744G>C (p.Thr248=)
c.720G>C (p.Thr240=)
c.775G>C (p.Glu259Gln)
c.766G>C (p.Glu256Gln)
c.730G>C (p.Glu244Gln)
c.723G>C (p.Thr241=)
c.778G>C (p.Glu260Gln)
c.769G>C (p.Glu257Gln)
c.721G>C (p.Glu241Gln)
c.700G>C (p.Glu234Gln)
c.688G>C (p.Glu230Gln)
n.761G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695776C>TCA400935028CD300LF,RAB37c.666G>A (p.Thr222=)
c.712G>A (p.Glu238Lys)
c.72+24118C>T (n.72+24118C>T)
c.562G>A (p.Glu188Lys)
c.697G>A (p.Glu233Lys)
n.479+24118C>T
c.*41G>A (n.*41G>A)
c.675G>A (p.Thr225=)
c.711G>A (p.Thr237=)
c.643G>A (p.Glu215Lys)
n.838G>A
c.798G>A (p.Thr266=)
c.789G>A (p.Thr263=)
c.753G>A (p.Thr251=)
c.744G>A (p.Thr248=)
c.720G>A (p.Thr240=)
c.775G>A (p.Glu259Lys)
c.766G>A (p.Glu256Lys)
c.730G>A (p.Glu244Lys)
c.723G>A (p.Thr241=)
c.778G>A (p.Glu260Lys)
c.769G>A (p.Glu257Lys)
c.721G>A (p.Glu241Lys)
c.700G>A (p.Glu234Lys)
c.688G>A (p.Glu230Lys)
n.761G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695777G>ACA8749757CD300LF,RAB37c.665C>T (p.Thr222Met)
c.711C>T (p.His237=)
c.72+24119G>A (n.72+24119G>A)
c.561C>T (p.His187=)
c.696C>T (p.His232=)
n.479+24119G>A
c.*40C>T (n.*40C>T)
c.674C>T (p.Thr225Met)
c.710C>T (p.Thr237Met)
c.642C>T (p.His214=)
n.837C>T
c.797C>T (p.Thr266Met)
c.788C>T (p.Thr263Met)
c.752C>T (p.Thr251Met)
c.743C>T (p.Thr248Met)
c.719C>T (p.Thr240Met)
c.774C>T (p.His258=)
c.765C>T (p.His255=)
c.729C>T (p.His243=)
c.722C>T (p.Thr241Met)
c.777C>T (p.His259=)
c.768C>T (p.His256=)
c.720C>T (p.His240=)
c.699C>T (p.His233=)
c.687C>T (p.His229=)
n.760C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695777G>CCA400935029CD300LF,RAB37c.665C>G (p.Thr222Arg)
c.711C>G (p.His237Gln)
c.72+24119G>C (n.72+24119G>C)
c.561C>G (p.His187Gln)
c.696C>G (p.His232Gln)
n.479+24119G>C
c.*40C>G (n.*40C>G)
c.674C>G (p.Thr225Arg)
c.710C>G (p.Thr237Arg)
c.642C>G (p.His214Gln)
n.837C>G
c.797C>G (p.Thr266Arg)
c.788C>G (p.Thr263Arg)
c.752C>G (p.Thr251Arg)
c.743C>G (p.Thr248Arg)
c.719C>G (p.Thr240Arg)
c.774C>G (p.His258Gln)
c.765C>G (p.His255Gln)
c.729C>G (p.His243Gln)
c.722C>G (p.Thr241Arg)
c.777C>G (p.His259Gln)
c.768C>G (p.His256Gln)
c.720C>G (p.His240Gln)
c.699C>G (p.His233Gln)
c.687C>G (p.His229Gln)
n.760C>G
17g.74695777G=CA2275147005CD300LF,RAB37c.665C= (p.Thr222=)
c.711C= (p.His237=)
c.72+24119G= (n.72+24119G=)
c.561C= (p.His187=)
c.696C= (p.His232=)
n.479+24119G=
c.*40C= (n.*40C=)
c.674C= (p.Thr225=)
c.710C= (p.Thr237=)
c.642C= (p.His214=)
n.837C=
c.797C= (p.Thr266=)
c.788C= (p.Thr263=)
c.752C= (p.Thr251=)
c.743C= (p.Thr248=)
c.719C= (p.Thr240=)
c.774C= (p.His258=)
c.765C= (p.His255=)
c.729C= (p.His243=)
c.722C= (p.Thr241=)
c.777C= (p.His259=)
c.768C= (p.His256=)
c.720C= (p.His240=)
c.699C= (p.His233=)
c.687C= (p.His229=)
n.760C=
17g.74695777G>TCA400935030CD300LF,RAB37c.665C>A (p.Thr222Lys)
c.711C>A (p.His237Gln)
c.72+24119G>T (n.72+24119G>T)
c.561C>A (p.His187Gln)
c.696C>A (p.His232Gln)
n.479+24119G>T
c.*40C>A (n.*40C>A)
c.674C>A (p.Thr225Lys)
c.710C>A (p.Thr237Lys)
c.642C>A (p.His214Gln)
n.837C>A
c.797C>A (p.Thr266Lys)
c.788C>A (p.Thr263Lys)
c.752C>A (p.Thr251Lys)
c.743C>A (p.Thr248Lys)
c.719C>A (p.Thr240Lys)
c.774C>A (p.His258Gln)
c.765C>A (p.His255Gln)
c.729C>A (p.His243Gln)
c.722C>A (p.Thr241Lys)
c.777C>A (p.His259Gln)
c.768C>A (p.His256Gln)
c.720C>A (p.His240Gln)
c.699C>A (p.His233Gln)
c.687C>A (p.His229Gln)
n.760C>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695778T>ACA400935031CD300LF,RAB37c.664A>T (p.Thr222Ser)
c.710A>T (p.His237Leu)
c.72+24120T>A (n.72+24120T>A)
c.560A>T (p.His187Leu)
c.695A>T (p.His232Leu)
n.479+24120T>A
c.*39A>T (n.*39A>T)
c.673A>T (p.Thr225Ser)
c.709A>T (p.Thr237Ser)
c.641A>T (p.His214Leu)
n.836A>T
c.796A>T (p.Thr266Ser)
c.787A>T (p.Thr263Ser)
c.751A>T (p.Thr251Ser)
c.742A>T (p.Thr248Ser)
c.718A>T (p.Thr240Ser)
c.773A>T (p.His258Leu)
c.764A>T (p.His255Leu)
c.728A>T (p.His243Leu)
c.721A>T (p.Thr241Ser)
c.776A>T (p.His259Leu)
c.767A>T (p.His256Leu)
c.719A>T (p.His240Leu)
c.698A>T (p.His233Leu)
c.686A>T (p.His229Leu)
n.759A>T
17g.74695778T>CCA400935032CD300LF,RAB37c.664A>G (p.Thr222Ala)
c.710A>G (p.His237Arg)
c.72+24120T>C (n.72+24120T>C)
c.560A>G (p.His187Arg)
c.695A>G (p.His232Arg)
n.479+24120T>C
c.*39A>G (n.*39A>G)
c.673A>G (p.Thr225Ala)
c.709A>G (p.Thr237Ala)
c.641A>G (p.His214Arg)
n.836A>G
c.796A>G (p.Thr266Ala)
c.787A>G (p.Thr263Ala)
c.751A>G (p.Thr251Ala)
c.742A>G (p.Thr248Ala)
c.718A>G (p.Thr240Ala)
c.773A>G (p.His258Arg)
c.764A>G (p.His255Arg)
c.728A>G (p.His243Arg)
c.721A>G (p.Thr241Ala)
c.776A>G (p.His259Arg)
c.767A>G (p.His256Arg)
c.719A>G (p.His240Arg)
c.698A>G (p.His233Arg)
c.686A>G (p.His229Arg)
n.759A>G
17g.74695778T>GCA400935033CD300LF,RAB37c.664A>C (p.Thr222Pro)
c.710A>C (p.His237Pro)
c.72+24120T>G (n.72+24120T>G)
c.560A>C (p.His187Pro)
c.695A>C (p.His232Pro)
n.479+24120T>G
c.*39A>C (n.*39A>C)
c.673A>C (p.Thr225Pro)
c.709A>C (p.Thr237Pro)
c.641A>C (p.His214Pro)
n.836A>C
c.796A>C (p.Thr266Pro)
c.787A>C (p.Thr263Pro)
c.751A>C (p.Thr251Pro)
c.742A>C (p.Thr248Pro)
c.718A>C (p.Thr240Pro)
c.773A>C (p.His258Pro)
c.764A>C (p.His255Pro)
c.728A>C (p.His243Pro)
c.721A>C (p.Thr241Pro)
c.776A>C (p.His259Pro)
c.767A>C (p.His256Pro)
c.719A>C (p.His240Pro)
c.698A>C (p.His233Pro)
c.686A>C (p.His229Pro)
n.759A>C
17g.74695779G>ACA400935035CD300LF,RAB37c.663C>T (p.Thr221=)
c.709C>T (p.His237Tyr)
c.72+24121G>A (n.72+24121G>A)
c.559C>T (p.His187Tyr)
c.694C>T (p.His232Tyr)
n.479+24121G>A
c.*38C>T (n.*38C>T)
c.672C>T (p.Thr224=)
c.708C>T (p.Thr236=)
c.640C>T (p.His214Tyr)
n.835C>T
c.795C>T (p.Thr265=)
c.786C>T (p.Thr262=)
c.750C>T (p.Thr250=)
c.741C>T (p.Thr247=)
c.717C>T (p.Thr239=)
c.772C>T (p.His258Tyr)
c.763C>T (p.His255Tyr)
c.727C>T (p.His243Tyr)
c.720C>T (p.Thr240=)
c.775C>T (p.His259Tyr)
c.766C>T (p.His256Tyr)
c.718C>T (p.His240Tyr)
c.697C>T (p.His233Tyr)
c.685C>T (p.His229Tyr)
n.758C>T
 dbSNP gnomAD v3 gnomAD v4
17g.74695779G>CCA400935036CD300LF,RAB37c.663C>G (p.Thr221=)
c.709C>G (p.His237Asp)
c.72+24121G>C (n.72+24121G>C)
c.559C>G (p.His187Asp)
c.694C>G (p.His232Asp)
n.479+24121G>C
c.*38C>G (n.*38C>G)
c.672C>G (p.Thr224=)
c.708C>G (p.Thr236=)
c.640C>G (p.His214Asp)
n.835C>G
c.795C>G (p.Thr265=)
c.786C>G (p.Thr262=)
c.750C>G (p.Thr250=)
c.741C>G (p.Thr247=)
c.717C>G (p.Thr239=)
c.772C>G (p.His258Asp)
c.763C>G (p.His255Asp)
c.727C>G (p.His243Asp)
c.720C>G (p.Thr240=)
c.775C>G (p.His259Asp)
c.766C>G (p.His256Asp)
c.718C>G (p.His240Asp)
c.697C>G (p.His233Asp)
c.685C>G (p.His229Asp)
n.758C>G
17g.74695779G=CA2275147006CD300LF,RAB37c.663C= (p.Thr221=)
c.709C= (p.His237=)
c.72+24121G= (n.72+24121G=)
c.559C= (p.His187=)
c.694C= (p.His232=)
n.479+24121G=
c.*38C= (n.*38C=)
c.672C= (p.Thr224=)
c.708C= (p.Thr236=)
c.640C= (p.His214=)
n.835C=
c.795C= (p.Thr265=)
c.786C= (p.Thr262=)
c.750C= (p.Thr250=)
c.741C= (p.Thr247=)
c.717C= (p.Thr239=)
c.772C= (p.His258=)
c.763C= (p.His255=)
c.727C= (p.His243=)
c.720C= (p.Thr240=)
c.775C= (p.His259=)
c.766C= (p.His256=)
c.718C= (p.His240=)
c.697C= (p.His233=)
c.685C= (p.His229=)
n.758C=
17g.74695779G>TCA400935034CD300LF,RAB37c.663C>A (p.Thr221=)
c.709C>A (p.His237Asn)
c.72+24121G>T (n.72+24121G>T)
c.559C>A (p.His187Asn)
c.694C>A (p.His232Asn)
n.479+24121G>T
c.*38C>A (n.*38C>A)
c.672C>A (p.Thr224=)
c.708C>A (p.Thr236=)
c.640C>A (p.His214Asn)
n.835C>A
c.795C>A (p.Thr265=)
c.786C>A (p.Thr262=)
c.750C>A (p.Thr250=)
c.741C>A (p.Thr247=)
c.717C>A (p.Thr239=)
c.772C>A (p.His258Asn)
c.763C>A (p.His255Asn)
c.727C>A (p.His243Asn)
c.720C>A (p.Thr240=)
c.775C>A (p.His259Asn)
c.766C>A (p.His256Asn)
c.718C>A (p.His240Asn)
c.697C>A (p.His233Asn)
c.685C>A (p.His229Asn)
n.758C>A
17g.74695780G>ACA400935037CD300LF,RAB37c.662C>T (p.Thr221Ile)
c.708C>T (p.Tyr236=)
c.72+24122G>A (n.72+24122G>A)
c.558C>T (p.Tyr186=)
c.693C>T (p.Tyr231=)
n.479+24122G>A
c.*37C>T (n.*37C>T)
c.671C>T (p.Thr224Ile)
c.707C>T (p.Thr236Ile)
c.639C>T (p.Tyr213=)
n.834C>T
c.794C>T (p.Thr265Ile)
c.785C>T (p.Thr262Ile)
c.749C>T (p.Thr250Ile)
c.740C>T (p.Thr247Ile)
c.716C>T (p.Thr239Ile)
c.771C>T (p.Tyr257=)
c.762C>T (p.Tyr254=)
c.726C>T (p.Tyr242=)
c.719C>T (p.Thr240Ile)
c.774C>T (p.Tyr258=)
c.765C>T (p.Tyr255=)
c.717C>T (p.Tyr239=)
c.696C>T (p.Tyr232=)
c.684C>T (p.Tyr228=)
n.757C>T
 gnomAD v4
17g.74695780G>CCA400935038CD300LF,RAB37c.662C>G (p.Thr221Ser)
c.708C>G (p.Tyr236Ter)
c.72+24122G>C (n.72+24122G>C)
c.558C>G (p.Tyr186Ter)
c.693C>G (p.Tyr231Ter)
n.479+24122G>C
c.*37C>G (n.*37C>G)
c.671C>G (p.Thr224Ser)
c.707C>G (p.Thr236Ser)
c.639C>G (p.Tyr213Ter)
n.834C>G
c.794C>G (p.Thr265Ser)
c.785C>G (p.Thr262Ser)
c.749C>G (p.Thr250Ser)
c.740C>G (p.Thr247Ser)
c.716C>G (p.Thr239Ser)
c.771C>G (p.Tyr257Ter)
c.762C>G (p.Tyr254Ter)
c.726C>G (p.Tyr242Ter)
c.719C>G (p.Thr240Ser)
c.774C>G (p.Tyr258Ter)
c.765C>G (p.Tyr255Ter)
c.717C>G (p.Tyr239Ter)
c.696C>G (p.Tyr232Ter)
c.684C>G (p.Tyr228Ter)
n.757C>G
17g.74695780G>TCA400935039CD300LF,RAB37c.662C>A (p.Thr221Asn)
c.708C>A (p.Tyr236Ter)
c.72+24122G>T (n.72+24122G>T)
c.558C>A (p.Tyr186Ter)
c.693C>A (p.Tyr231Ter)
n.479+24122G>T
c.*37C>A (n.*37C>A)
c.671C>A (p.Thr224Asn)
c.707C>A (p.Thr236Asn)
c.639C>A (p.Tyr213Ter)
n.834C>A
c.794C>A (p.Thr265Asn)
c.785C>A (p.Thr262Asn)
c.749C>A (p.Thr250Asn)
c.740C>A (p.Thr247Asn)
c.716C>A (p.Thr239Asn)
c.771C>A (p.Tyr257Ter)
c.762C>A (p.Tyr254Ter)
c.726C>A (p.Tyr242Ter)
c.719C>A (p.Thr240Asn)
c.774C>A (p.Tyr258Ter)
c.765C>A (p.Tyr255Ter)
c.717C>A (p.Tyr239Ter)
c.696C>A (p.Tyr232Ter)
c.684C>A (p.Tyr228Ter)
n.757C>A
17g.74695781T>ACA400935040CD300LF,RAB37c.661A>T (p.Thr221Ser)
c.707A>T (p.Tyr236Phe)
c.72+24123T>A (n.72+24123T>A)
c.557A>T (p.Tyr186Phe)
c.692A>T (p.Tyr231Phe)
n.479+24123T>A
c.*36A>T (n.*36A>T)
c.670A>T (p.Thr224Ser)
c.706A>T (p.Thr236Ser)
c.638A>T (p.Tyr213Phe)
n.833A>T
c.793A>T (p.Thr265Ser)
c.784A>T (p.Thr262Ser)
c.748A>T (p.Thr250Ser)
c.739A>T (p.Thr247Ser)
c.715A>T (p.Thr239Ser)
c.770A>T (p.Tyr257Phe)
c.761A>T (p.Tyr254Phe)
c.725A>T (p.Tyr242Phe)
c.718A>T (p.Thr240Ser)
c.773A>T (p.Tyr258Phe)
c.764A>T (p.Tyr255Phe)
c.716A>T (p.Tyr239Phe)
c.695A>T (p.Tyr232Phe)
c.683A>T (p.Tyr228Phe)
n.756A>T
17g.74695781T>CCA8749758CD300LF,RAB37c.661A>G (p.Thr221Ala)
c.707A>G (p.Tyr236Cys)
c.72+24123T>C (n.72+24123T>C)
c.557A>G (p.Tyr186Cys)
c.692A>G (p.Tyr231Cys)
n.479+24123T>C
c.*36A>G (n.*36A>G)
c.670A>G (p.Thr224Ala)
c.706A>G (p.Thr236Ala)
c.638A>G (p.Tyr213Cys)
n.833A>G
c.793A>G (p.Thr265Ala)
c.784A>G (p.Thr262Ala)
c.748A>G (p.Thr250Ala)
c.739A>G (p.Thr247Ala)
c.715A>G (p.Thr239Ala)
c.770A>G (p.Tyr257Cys)
c.761A>G (p.Tyr254Cys)
c.725A>G (p.Tyr242Cys)
c.718A>G (p.Thr240Ala)
c.773A>G (p.Tyr258Cys)
c.764A>G (p.Tyr255Cys)
c.716A>G (p.Tyr239Cys)
c.695A>G (p.Tyr232Cys)
c.683A>G (p.Tyr228Cys)
n.756A>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.74695781T>GCA400935041CD300LF,RAB37c.661A>C (p.Thr221Pro)
c.707A>C (p.Tyr236Ser)
c.72+24123T>G (n.72+24123T>G)
c.557A>C (p.Tyr186Ser)
c.692A>C (p.Tyr231Ser)
n.479+24123T>G
c.*36A>C (n.*36A>C)
c.670A>C (p.Thr224Pro)
c.706A>C (p.Thr236Pro)
c.638A>C (p.Tyr213Ser)
n.833A>C
c.793A>C (p.Thr265Pro)
c.784A>C (p.Thr262Pro)
c.748A>C (p.Thr250Pro)
c.739A>C (p.Thr247Pro)
c.715A>C (p.Thr239Pro)
c.770A>C (p.Tyr257Ser)
c.761A>C (p.Tyr254Ser)
c.725A>C (p.Tyr242Ser)
c.718A>C (p.Thr240Pro)
c.773A>C (p.Tyr258Ser)
c.764A>C (p.Tyr255Ser)
c.716A>C (p.Tyr239Ser)
c.695A>C (p.Tyr232Ser)
c.683A>C (p.Tyr228Ser)
n.756A>C
17g.74695781T=CA2275147007CD300LF,RAB37c.661A= (p.Thr221=)
c.707A= (p.Tyr236=)
c.72+24123T= (n.72+24123T=)
c.557A= (p.Tyr186=)
c.692A= (p.Tyr231=)
n.479+24123T=
c.*36A= (n.*36A=)
c.670A= (p.Thr224=)
c.706A= (p.Thr236=)
c.638A= (p.Tyr213=)
n.833A=
c.793A= (p.Thr265=)
c.784A= (p.Thr262=)
c.748A= (p.Thr250=)
c.739A= (p.Thr247=)
c.715A= (p.Thr239=)
c.770A= (p.Tyr257=)
c.761A= (p.Tyr254=)
c.725A= (p.Tyr242=)
c.718A= (p.Thr240=)
c.773A= (p.Tyr258=)
c.764A= (p.Tyr255=)
c.716A= (p.Tyr239=)
c.695A= (p.Tyr232=)
c.683A= (p.Tyr228=)
n.756A=
17g.74695782A>CCA400935044CD300LF,RAB37c.660T>G (p.Ala220=)
c.706T>G (p.Tyr236Asp)
c.72+24124A>C (n.72+24124A>C)
c.556T>G (p.Tyr186Asp)
c.691T>G (p.Tyr231Asp)
n.479+24124A>C
c.*35T>G (n.*35T>G)
c.669T>G (p.Ala223=)
c.705T>G (p.Ala235=)
c.637T>G (p.Tyr213Asp)
n.832T>G
c.792T>G (p.Ala264=)
c.783T>G (p.Ala261=)
c.747T>G (p.Ala249=)
c.738T>G (p.Ala246=)
c.714T>G (p.Ala238=)
c.769T>G (p.Tyr257Asp)
c.760T>G (p.Tyr254Asp)
c.724T>G (p.Tyr242Asp)
c.717T>G (p.Ala239=)
c.772T>G (p.Tyr258Asp)
c.763T>G (p.Tyr255Asp)
c.715T>G (p.Tyr239Asp)
c.694T>G (p.Tyr232Asp)
c.682T>G (p.Tyr228Asp)
n.755T>G
17g.74695782A>GCA400935042CD300LF,RAB37c.660T>C (p.Ala220=)
c.706T>C (p.Tyr236His)
c.72+24124A>G (n.72+24124A>G)
c.556T>C (p.Tyr186His)
c.691T>C (p.Tyr231His)
n.479+24124A>G
c.*35T>C (n.*35T>C)
c.669T>C (p.Ala223=)
c.705T>C (p.Ala235=)
c.637T>C (p.Tyr213His)
n.832T>C
c.792T>C (p.Ala264=)
c.783T>C (p.Ala261=)
c.747T>C (p.Ala249=)
c.738T>C (p.Ala246=)
c.714T>C (p.Ala238=)
c.769T>C (p.Tyr257His)
c.760T>C (p.Tyr254His)
c.724T>C (p.Tyr242His)
c.717T>C (p.Ala239=)
c.772T>C (p.Tyr258His)
c.763T>C (p.Tyr255His)
c.715T>C (p.Tyr239His)
c.694T>C (p.Tyr232His)
c.682T>C (p.Tyr228His)
n.755T>C
17g.74695782A>TCA400935043CD300LF,RAB37c.660T>A (p.Ala220=)
c.706T>A (p.Tyr236Asn)
c.72+24124A>T (n.72+24124A>T)
c.556T>A (p.Tyr186Asn)
c.691T>A (p.Tyr231Asn)
n.479+24124A>T
c.*35T>A (n.*35T>A)
c.669T>A (p.Ala223=)
c.705T>A (p.Ala235=)
c.637T>A (p.Tyr213Asn)
n.832T>A
c.792T>A (p.Ala264=)
c.783T>A (p.Ala261=)
c.747T>A (p.Ala249=)
c.738T>A (p.Ala246=)
c.714T>A (p.Ala238=)
c.769T>A (p.Tyr257Asn)
c.760T>A (p.Tyr254Asn)
c.724T>A (p.Tyr242Asn)
c.717T>A (p.Ala239=)
c.772T>A (p.Tyr258Asn)
c.763T>A (p.Tyr255Asn)
c.715T>A (p.Tyr239Asn)
c.694T>A (p.Tyr232Asn)
c.682T>A (p.Tyr228Asn)
n.755T>A
17g.74695783G>ACA400935045CD300LF,RAB37c.659C>T (p.Ala220Val)
c.705C>T (p.Gly235=)
c.72+24125G>A (n.72+24125G>A)
c.555C>T (p.Gly185=)
c.690C>T (p.Gly230=)
n.479+24125G>A
c.*34C>T (n.*34C>T)
c.668C>T (p.Ala223Val)
c.704C>T (p.Ala235Val)
c.636C>T (p.Gly212=)
n.831C>T
c.791C>T (p.Ala264Val)
c.782C>T (p.Ala261Val)
c.746C>T (p.Ala249Val)
c.737C>T (p.Ala246Val)
c.713C>T (p.Ala238Val)
c.768C>T (p.Gly256=)
c.759C>T (p.Gly253=)
c.723C>T (p.Gly241=)
c.716C>T (p.Ala239Val)
c.771C>T (p.Gly257=)
c.762C>T (p.Gly254=)
c.714C>T (p.Gly238=)
c.693C>T (p.Gly231=)
c.681C>T (p.Gly227=)
n.754C>T
 dbSNP gnomAD v2 gnomAD v4
17g.74695783G>CCA400935046CD300LF,RAB37c.659C>G (p.Ala220Gly)
c.705C>G (p.Gly235=)
c.72+24125G>C (n.72+24125G>C)
c.555C>G (p.Gly185=)
c.690C>G (p.Gly230=)
n.479+24125G>C
c.*34C>G (n.*34C>G)
c.668C>G (p.Ala223Gly)
c.704C>G (p.Ala235Gly)
c.636C>G (p.Gly212=)
n.831C>G
c.791C>G (p.Ala264Gly)
c.782C>G (p.Ala261Gly)
c.746C>G (p.Ala249Gly)
c.737C>G (p.Ala246Gly)
c.713C>G (p.Ala238Gly)
c.768C>G (p.Gly256=)
c.759C>G (p.Gly253=)
c.723C>G (p.Gly241=)
c.716C>G (p.Ala239Gly)
c.771C>G (p.Gly257=)
c.762C>G (p.Gly254=)
c.714C>G (p.Gly238=)
c.693C>G (p.Gly231=)
c.681C>G (p.Gly227=)
n.754C>G
17g.74695783G=CA2275147008CD300LF,RAB37c.659C= (p.Ala220=)
c.705C= (p.Gly235=)
c.72+24125G= (n.72+24125G=)
c.555C= (p.Gly185=)
c.690C= (p.Gly230=)
n.479+24125G=
c.*34C= (n.*34C=)
c.668C= (p.Ala223=)
c.704C= (p.Ala235=)
c.636C= (p.Gly212=)
n.831C=
c.791C= (p.Ala264=)
c.782C= (p.Ala261=)
c.746C= (p.Ala249=)
c.737C= (p.Ala246=)
c.713C= (p.Ala238=)
c.768C= (p.Gly256=)
c.759C= (p.Gly253=)
c.723C= (p.Gly241=)
c.716C= (p.Ala239=)
c.771C= (p.Gly257=)
c.762C= (p.Gly254=)
c.714C= (p.Gly238=)
c.693C= (p.Gly231=)
c.681C= (p.Gly227=)
n.754C=
17g.74695783G>TCA400935047CD300LF,RAB37c.659C>A (p.Ala220Asp)
c.705C>A (p.Gly235=)
c.72+24125G>T (n.72+24125G>T)
c.555C>A (p.Gly185=)
c.690C>A (p.Gly230=)
n.479+24125G>T
c.*34C>A (n.*34C>A)
c.668C>A (p.Ala223Asp)
c.704C>A (p.Ala235Asp)
c.636C>A (p.Gly212=)
n.831C>A
c.791C>A (p.Ala264Asp)
c.782C>A (p.Ala261Asp)
c.746C>A (p.Ala249Asp)
c.737C>A (p.Ala246Asp)
c.713C>A (p.Ala238Asp)
c.768C>A (p.Gly256=)
c.759C>A (p.Gly253=)
c.723C>A (p.Gly241=)
c.716C>A (p.Ala239Asp)
c.771C>A (p.Gly257=)
c.762C>A (p.Gly254=)
c.714C>A (p.Gly238=)
c.693C>A (p.Gly231=)
c.681C>A (p.Gly227=)
n.754C>A
17g.74695784C>ACA400935048CD300LF,RAB37c.658G>T (p.Ala220Ser)
c.704G>T (p.Gly235Val)
c.72+24126C>A (n.72+24126C>A)
c.554G>T (p.Gly185Val)
c.689G>T (p.Gly230Val)
n.479+24126C>A
c.*33G>T (n.*33G>T)
c.667G>T (p.Ala223Ser)
c.703G>T (p.Ala235Ser)
c.635G>T (p.Gly212Val)
n.830G>T
c.790G>T (p.Ala264Ser)
c.781G>T (p.Ala261Ser)
c.745G>T (p.Ala249Ser)
c.736G>T (p.Ala246Ser)
c.712G>T (p.Ala238Ser)
c.767G>T (p.Gly256Val)
c.758G>T (p.Gly253Val)
c.722G>T (p.Gly241Val)
c.715G>T (p.Ala239Ser)
c.770G>T (p.Gly257Val)
c.761G>T (p.Gly254Val)
c.713G>T (p.Gly238Val)
c.692G>T (p.Gly231Val)
c.680G>T (p.Gly227Val)
n.753G>T
 dbSNP
17g.74695784C=CA2275147009CD300LF,RAB37c.658G= (p.Ala220=)
c.704G= (p.Gly235=)
c.72+24126C= (n.72+24126C=)
c.554G= (p.Gly185=)
c.689G= (p.Gly230=)
n.479+24126C=
c.*33G= (n.*33G=)
c.667G= (p.Ala223=)
c.703G= (p.Ala235=)
c.635G= (p.Gly212=)
n.830G=
c.790G= (p.Ala264=)
c.781G= (p.Ala261=)
c.745G= (p.Ala249=)
c.736G= (p.Ala246=)
c.712G= (p.Ala238=)
c.767G= (p.Gly256=)
c.758G= (p.Gly253=)
c.722G= (p.Gly241=)
c.715G= (p.Ala239=)
c.770G= (p.Gly257=)
c.761G= (p.Gly254=)
c.713G= (p.Gly238=)
c.692G= (p.Gly231=)
c.680G= (p.Gly227=)
n.753G=
17g.74695784C>GCA400935049CD300LF,RAB37c.658G>C (p.Ala220Pro)
c.704G>C (p.Gly235Ala)
c.72+24126C>G (n.72+24126C>G)
c.554G>C (p.Gly185Ala)
c.689G>C (p.Gly230Ala)
n.479+24126C>G
c.*33G>C (n.*33G>C)
c.667G>C (p.Ala223Pro)
c.703G>C (p.Ala235Pro)
c.635G>C (p.Gly212Ala)
n.830G>C
c.790G>C (p.Ala264Pro)
c.781G>C (p.Ala261Pro)
c.745G>C (p.Ala249Pro)
c.736G>C (p.Ala246Pro)
c.712G>C (p.Ala238Pro)
c.767G>C (p.Gly256Ala)
c.758G>C (p.Gly253Ala)
c.722G>C (p.Gly241Ala)
c.715G>C (p.Ala239Pro)
c.770G>C (p.Gly257Ala)
c.761G>C (p.Gly254Ala)
c.713G>C (p.Gly238Ala)
c.692G>C (p.Gly231Ala)
c.680G>C (p.Gly227Ala)
n.753G>C
17g.74695784C>TCA400935050CD300LF,RAB37c.658G>A (p.Ala220Thr)
c.704G>A (p.Gly235Asp)
c.72+24126C>T (n.72+24126C>T)
c.554G>A (p.Gly185Asp)
c.689G>A (p.Gly230Asp)
n.479+24126C>T
c.*33G>A (n.*33G>A)
c.667G>A (p.Ala223Thr)
c.703G>A (p.Ala235Thr)
c.635G>A (p.Gly212Asp)
n.830G>A
c.790G>A (p.Ala264Thr)
c.781G>A (p.Ala261Thr)
c.745G>A (p.Ala249Thr)
c.736G>A (p.Ala246Thr)
c.712G>A (p.Ala238Thr)
c.767G>A (p.Gly256Asp)
c.758G>A (p.Gly253Asp)
c.722G>A (p.Gly241Asp)
c.715G>A (p.Ala239Thr)
c.770G>A (p.Gly257Asp)
c.761G>A (p.Gly254Asp)
c.713G>A (p.Gly238Asp)
c.692G>A (p.Gly231Asp)
c.680G>A (p.Gly227Asp)
n.753G>A
 gnomAD v4
17g.74695785C>ACA400935051CD300LF,RAB37c.657G>T (p.Lys219Asn)
c.703G>T (p.Gly235Cys)
c.72+24127C>A (n.72+24127C>A)
c.553G>T (p.Gly185Cys)
c.688G>T (p.Gly230Cys)
n.479+24127C>A
c.*32G>T (n.*32G>T)
c.666G>T (p.Lys222Asn)
c.702G>T (p.Lys234Asn)
c.634G>T (p.Gly212Cys)
n.829G>T
c.789G>T (p.Lys263Asn)
c.780G>T (p.Lys260Asn)
c.744G>T (p.Lys248Asn)
c.735G>T (p.Lys245Asn)
c.711G>T (p.Lys237Asn)
c.766G>T (p.Gly256Cys)
c.757G>T (p.Gly253Cys)
c.721G>T (p.Gly241Cys)
c.714G>T (p.Lys238Asn)
c.769G>T (p.Gly257Cys)
c.760G>T (p.Gly254Cys)
c.712G>T (p.Gly238Cys)
c.691G>T (p.Gly231Cys)
c.679G>T (p.Gly227Cys)
n.752G>T
17g.74695785C>GCA400935053CD300LF,RAB37c.657G>C (p.Lys219Asn)
c.703G>C (p.Gly235Arg)
c.72+24127C>G (n.72+24127C>G)
c.553G>C (p.Gly185Arg)
c.688G>C (p.Gly230Arg)
n.479+24127C>G
c.*32G>C (n.*32G>C)
c.666G>C (p.Lys222Asn)
c.702G>C (p.Lys234Asn)
c.634G>C (p.Gly212Arg)
n.829G>C
c.789G>C (p.Lys263Asn)
c.780G>C (p.Lys260Asn)
c.744G>C (p.Lys248Asn)
c.735G>C (p.Lys245Asn)
c.711G>C (p.Lys237Asn)
c.766G>C (p.Gly256Arg)
c.757G>C (p.Gly253Arg)
c.721G>C (p.Gly241Arg)
c.714G>C (p.Lys238Asn)
c.769G>C (p.Gly257Arg)
c.760G>C (p.Gly254Arg)
c.712G>C (p.Gly238Arg)
c.691G>C (p.Gly231Arg)
c.679G>C (p.Gly227Arg)
n.752G>C
17g.74695785C>TCA400935052CD300LF,RAB37c.657G>A (p.Lys219=)
c.703G>A (p.Gly235Ser)
c.72+24127C>T (n.72+24127C>T)
c.553G>A (p.Gly185Ser)
c.688G>A (p.Gly230Ser)
n.479+24127C>T
c.*32G>A (n.*32G>A)
c.666G>A (p.Lys222=)
c.702G>A (p.Lys234=)
c.634G>A (p.Gly212Ser)
n.829G>A
c.789G>A (p.Lys263=)
c.780G>A (p.Lys260=)
c.744G>A (p.Lys248=)
c.735G>A (p.Lys245=)
c.711G>A (p.Lys237=)
c.766G>A (p.Gly256Ser)
c.757G>A (p.Gly253Ser)
c.721G>A (p.Gly241Ser)
c.714G>A (p.Lys238=)
c.769G>A (p.Gly257Ser)
c.760G>A (p.Gly254Ser)
c.712G>A (p.Gly238Ser)
c.691G>A (p.Gly231Ser)
c.679G>A (p.Gly227Ser)
n.752G>A
 gnomAD v4
17g.74695785_74695786delinsCTCA2275147010CD300LF,RAB37c.656_657delinsAG (p.Lys219=)
c.702_703delinsAG (p.Lys234=)
c.72+24127_72+24128delinsCT (n.72+24127_72+24128delinsCT)
c.552_553delinsAG (p.Lys184=)
c.687_688delinsAG (p.Lys229=)
n.479+24127_479+24128delinsCT
c.*31_*32delinsAG (n.*31_*32delinsAG)
c.665_666delinsAG (p.Lys222=)
c.701_702delinsAG (p.Lys234=)
c.633_634delinsAG (p.Lys211=)
n.828_829delinsAG
c.788_789delinsAG (p.Lys263=)
c.779_780delinsAG (p.Lys260=)
c.743_744delinsAG (p.Lys248=)
c.734_735delinsAG (p.Lys245=)
c.710_711delinsAG (p.Lys237=)
c.765_766delinsAG (p.Lys255=)
c.756_757delinsAG (p.Lys252=)
c.720_721delinsAG (p.Lys240=)
c.713_714delinsAG (p.Lys238=)
c.768_769delinsAG (p.Lys256=)
c.759_760delinsAG (p.Lys253=)
c.711_712delinsAG (p.Lys237=)
c.690_691delinsAG (p.Lys230=)
c.678_679delinsAG (p.Lys226=)
n.751_752delinsAG
17g.74695786T>ACA400935054CD300LF,RAB37c.656A>T (p.Lys219Met)
c.702A>T (p.Lys234Asn)
c.72+24128T>A (n.72+24128T>A)
c.552A>T (p.Lys184Asn)
c.687A>T (p.Lys229Asn)
n.479+24128T>A
c.*31A>T (n.*31A>T)
c.665A>T (p.Lys222Met)
c.701A>T (p.Lys234Met)
c.633A>T (p.Lys211Asn)
n.828A>T
c.788A>T (p.Lys263Met)
c.779A>T (p.Lys260Met)
c.743A>T (p.Lys248Met)
c.734A>T (p.Lys245Met)
c.710A>T (p.Lys237Met)
c.765A>T (p.Lys255Asn)
c.756A>T (p.Lys252Asn)
c.720A>T (p.Lys240Asn)
c.713A>T (p.Lys238Met)
c.768A>T (p.Lys256Asn)
c.759A>T (p.Lys253Asn)
c.711A>T (p.Lys237Asn)
c.690A>T (p.Lys230Asn)
c.678A>T (p.Lys226Asn)
n.751A>T
17g.74695786T>CCA400935055CD300LF,RAB37c.656A>G (p.Lys219Arg)
c.702A>G (p.Lys234=)
c.72+24128T>C (n.72+24128T>C)
c.552A>G (p.Lys184=)
c.687A>G (p.Lys229=)
n.479+24128T>C
c.*31A>G (n.*31A>G)
c.665A>G (p.Lys222Arg)
c.701A>G (p.Lys234Arg)
c.633A>G (p.Lys211=)
n.828A>G
c.788A>G (p.Lys263Arg)
c.779A>G (p.Lys260Arg)
c.743A>G (p.Lys248Arg)
c.734A>G (p.Lys245Arg)
c.710A>G (p.Lys237Arg)
c.765A>G (p.Lys255=)
c.756A>G (p.Lys252=)
c.720A>G (p.Lys240=)
c.713A>G (p.Lys238Arg)
c.768A>G (p.Lys256=)
c.759A>G (p.Lys253=)
c.711A>G (p.Lys237=)
c.690A>G (p.Lys230=)
c.678A>G (p.Lys226=)
n.751A>G
17g.74695786T>GCA400935056CD300LF,RAB37c.656A>C (p.Lys219Thr)
c.702A>C (p.Lys234Asn)
c.72+24128T>G (n.72+24128T>G)
c.552A>C (p.Lys184Asn)
c.687A>C (p.Lys229Asn)
n.479+24128T>G
c.*31A>C (n.*31A>C)
c.665A>C (p.Lys222Thr)
c.701A>C (p.Lys234Thr)
c.633A>C (p.Lys211Asn)
n.828A>C
c.788A>C (p.Lys263Thr)
c.779A>C (p.Lys260Thr)
c.743A>C (p.Lys248Thr)
c.734A>C (p.Lys245Thr)
c.710A>C (p.Lys237Thr)
c.765A>C (p.Lys255Asn)
c.756A>C (p.Lys252Asn)
c.720A>C (p.Lys240Asn)
c.713A>C (p.Lys238Thr)
c.768A>C (p.Lys256Asn)
c.759A>C (p.Lys253Asn)
c.711A>C (p.Lys237Asn)
c.690A>C (p.Lys230Asn)
c.678A>C (p.Lys226Asn)
n.751A>C
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.74695787T>ACA400935057CD300LF,RAB37c.655A>T (p.Lys219Ter)
c.701A>T (p.Lys234Ile)
c.72+24129T>A (n.72+24129T>A)
c.551A>T (p.Lys184Ile)
c.686A>T (p.Lys229Ile)
n.479+24129T>A
c.*30A>T (n.*30A>T)
c.664A>T (p.Lys222Ter)
c.700A>T (p.Lys234Ter)
c.632A>T (p.Lys211Ile)
n.827A>T
c.787A>T (p.Lys263Ter)
c.778A>T (p.Lys260Ter)
c.742A>T (p.Lys248Ter)
c.733A>T (p.Lys245Ter)
c.709A>T (p.Lys237Ter)
c.764A>T (p.Lys255Ile)
c.755A>T (p.Lys252Ile)
c.719A>T (p.Lys240Ile)
c.712A>T (p.Lys238Ter)
c.767A>T (p.Lys256Ile)
c.758A>T (p.Lys253Ile)
c.710A>T (p.Lys237Ile)
c.689A>T (p.Lys230Ile)
c.677A>T (p.Lys226Ile)
n.750A>T
17g.74695787T>CCA400935058CD300LF,RAB37c.655A>G (p.Lys219Glu)
c.701A>G (p.Lys234Arg)
c.72+24129T>C (n.72+24129T>C)
c.551A>G (p.Lys184Arg)
c.686A>G (p.Lys229Arg)
n.479+24129T>C
c.*30A>G (n.*30A>G)
c.664A>G (p.Lys222Glu)
c.700A>G (p.Lys234Glu)
c.632A>G (p.Lys211Arg)
n.827A>G
c.787A>G (p.Lys263Glu)
c.778A>G (p.Lys260Glu)
c.742A>G (p.Lys248Glu)
c.733A>G (p.Lys245Glu)
c.709A>G (p.Lys237Glu)
c.764A>G (p.Lys255Arg)
c.755A>G (p.Lys252Arg)
c.719A>G (p.Lys240Arg)
c.712A>G (p.Lys238Glu)
c.767A>G (p.Lys256Arg)
c.758A>G (p.Lys253Arg)
c.710A>G (p.Lys237Arg)
c.689A>G (p.Lys230Arg)
c.677A>G (p.Lys226Arg)
n.750A>G
17g.74695787T>GCA400935059CD300LF,RAB37c.655A>C (p.Lys219Gln)
c.701A>C (p.Lys234Thr)
c.72+24129T>G (n.72+24129T>G)
c.551A>C (p.Lys184Thr)
c.686A>C (p.Lys229Thr)
n.479+24129T>G
c.*30A>C (n.*30A>C)
c.664A>C (p.Lys222Gln)
c.700A>C (p.Lys234Gln)
c.632A>C (p.Lys211Thr)
n.827A>C
c.787A>C (p.Lys263Gln)
c.778A>C (p.Lys260Gln)
c.742A>C (p.Lys248Gln)
c.733A>C (p.Lys245Gln)
c.709A>C (p.Lys237Gln)
c.764A>C (p.Lys255Thr)
c.755A>C (p.Lys252Thr)
c.719A>C (p.Lys240Thr)
c.712A>C (p.Lys238Gln)
c.767A>C (p.Lys256Thr)
c.758A>C (p.Lys253Thr)
c.710A>C (p.Lys237Thr)
c.689A>C (p.Lys230Thr)
c.677A>C (p.Lys226Thr)
n.750A>C
17g.74695788T>ACA400935060CD300LF,RAB37c.654A>T (p.Gln218His)
c.700A>T (p.Lys234Ter)
c.72+24130T>A (n.72+24130T>A)
c.550A>T (p.Lys184Ter)
c.685A>T (p.Lys229Ter)
n.479+24130T>A
c.*29A>T (n.*29A>T)
c.663A>T (p.Gln221His)
c.699A>T (p.Gln233His)
c.631A>T (p.Lys211Ter)
n.826A>T
c.786A>T (p.Gln262His)
c.777A>T (p.Gln259His)
c.741A>T (p.Gln247His)
c.732A>T (p.Gln244His)
c.708A>T (p.Gln236His)
c.763A>T (p.Lys255Ter)
c.754A>T (p.Lys252Ter)
c.718A>T (p.Lys240Ter)
c.711A>T (p.Gln237His)
c.766A>T (p.Lys256Ter)
c.757A>T (p.Lys253Ter)
c.709A>T (p.Lys237Ter)
c.688A>T (p.Lys230Ter)
c.676A>T (p.Lys226Ter)
n.749A>T
17g.74695788T>CCA400935061CD300LF,RAB37c.654A>G (p.Gln218=)
c.700A>G (p.Lys234Glu)
c.72+24130T>C (n.72+24130T>C)
c.550A>G (p.Lys184Glu)
c.685A>G (p.Lys229Glu)
n.479+24130T>C
c.*29A>G (n.*29A>G)
c.663A>G (p.Gln221=)
c.699A>G (p.Gln233=)
c.631A>G (p.Lys211Glu)
n.826A>G
c.786A>G (p.Gln262=)
c.777A>G (p.Gln259=)
c.741A>G (p.Gln247=)
c.732A>G (p.Gln244=)
c.708A>G (p.Gln236=)
c.763A>G (p.Lys255Glu)
c.754A>G (p.Lys252Glu)
c.718A>G (p.Lys240Glu)
c.711A>G (p.Gln237=)
c.766A>G (p.Lys256Glu)
c.757A>G (p.Lys253Glu)
c.709A>G (p.Lys237Glu)
c.688A>G (p.Lys230Glu)
c.676A>G (p.Lys226Glu)
n.749A>G
17g.74695788T>GCA400935062CD300LF,RAB37c.654A>C (p.Gln218His)
c.700A>C (p.Lys234Gln)
c.72+24130T>G (n.72+24130T>G)
c.550A>C (p.Lys184Gln)
c.685A>C (p.Lys229Gln)
n.479+24130T>G
c.*29A>C (n.*29A>C)
c.663A>C (p.Gln221His)
c.699A>C (p.Gln233His)
c.631A>C (p.Lys211Gln)
n.826A>C
c.786A>C (p.Gln262His)
c.777A>C (p.Gln259His)
c.741A>C (p.Gln247His)
c.732A>C (p.Gln244His)
c.708A>C (p.Gln236His)
c.763A>C (p.Lys255Gln)
c.754A>C (p.Lys252Gln)
c.718A>C (p.Lys240Gln)
c.711A>C (p.Gln237His)
c.766A>C (p.Lys256Gln)
c.757A>C (p.Lys253Gln)
c.709A>C (p.Lys237Gln)
c.688A>C (p.Lys230Gln)
c.676A>C (p.Lys226Gln)
n.749A>C
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

Number of alleles fetched