Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.79557230T>ACA470414448SFTPA2c.726A>T (p.Arg242=)
c.777A>T (p.Arg259=)
c.756A>T (p.Arg252=)
10g.79557230T>CCA470414449SFTPA2c.726A>G (p.Arg242=)
c.777A>G (p.Arg259=)
c.756A>G (p.Arg252=)
10g.79557230T>GCA470414450SFTPA2c.726A>C (p.Arg242=)
c.777A>C (p.Arg259=)
c.756A>C (p.Arg252=)
10g.79557231C>ACA377352630SFTPA2c.725G>T (p.Arg242Leu)
c.776G>T (p.Arg259Leu)
c.755G>T (p.Arg252Leu)
10g.79557231C=CA1922240595SFTPA2c.725G= (p.Arg242=)
c.776G= (p.Arg259=)
c.755G= (p.Arg252=)
10g.79557231C>GCA377352629SFTPA2c.725G>C (p.Arg242Pro)
c.776G>C (p.Arg259Pro)
c.755G>C (p.Arg252Pro)
10g.79557231C>TCA5573973SFTPA2c.725G>A (p.Arg242Gln)
c.776G>A (p.Arg259Gln)
c.755G>A (p.Arg252Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.79557232G>ACA5573975SFTPA2c.724C>T (p.Arg242Ter)
c.775C>T (p.Arg259Ter)
c.754C>T (p.Arg252Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557232G>CCA5573974SFTPA2c.724C>G (p.Arg242Gly)
c.775C>G (p.Arg259Gly)
c.754C>G (p.Arg252Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557232G=CA1922240600SFTPA2c.724C= (p.Arg242=)
c.775C= (p.Arg259=)
c.754C= (p.Arg252=)
10g.79557232G>TCA470414451SFTPA2c.724C>A (p.Arg242=)
c.775C>A (p.Arg259=)
c.754C>A (p.Arg252=)
10g.79557233G>ACA470414452SFTPA2c.723C>T (p.Ser241=)
c.774C>T (p.Ser258=)
c.753C>T (p.Ser251=)
 gnomAD v4
10g.79557233G>CCA470414454SFTPA2c.723C>G (p.Ser241=)
c.774C>G (p.Ser258=)
c.753C>G (p.Ser251=)
10g.79557233G>TCA470414453SFTPA2c.723C>A (p.Ser241=)
c.774C>A (p.Ser258=)
c.753C>A (p.Ser251=)
10g.79557234G>ACA377352631SFTPA2c.722C>T (p.Ser241Phe)
c.773C>T (p.Ser258Phe)
c.752C>T (p.Ser251Phe)
10g.79557234G>CCA377352632SFTPA2c.722C>G (p.Ser241Cys)
c.773C>G (p.Ser258Cys)
c.752C>G (p.Ser251Cys)
10g.79557234G=CA1922240603SFTPA2c.722C= (p.Ser241=)
c.773C= (p.Ser258=)
c.752C= (p.Ser251=)
10g.79557234G>TCA5573976SFTPA2c.722C>A (p.Ser241Tyr)
c.773C>A (p.Ser258Tyr)
c.752C>A (p.Ser251Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557235A>CCA377352633SFTPA2c.721T>G (p.Ser241Ala)
c.772T>G (p.Ser258Ala)
c.751T>G (p.Ser251Ala)
10g.79557235A>GCA377352635SFTPA2c.721T>C (p.Ser241Pro)
c.772T>C (p.Ser258Pro)
c.751T>C (p.Ser251Pro)
10g.79557235A>TCA377352634SFTPA2c.721T>A (p.Ser241Thr)
c.772T>A (p.Ser258Thr)
c.751T>A (p.Ser251Thr)
10g.79557236_79557238delCA2740093041SFTPA2c.719_721del (p.Tyr240del)
c.770_772del (p.Tyr257del)
c.749_751del (p.Tyr250del)
 ClinVar
10g.79557236G>ACA470414455SFTPA2c.720C>T (p.Tyr240=)
c.771C>T (p.Tyr257=)
c.750C>T (p.Tyr250=)
 dbSNP gnomAD v2 gnomAD v4
10g.79557236G>CCA377352636SFTPA2c.720C>G (p.Tyr240Ter)
c.771C>G (p.Tyr257Ter)
c.750C>G (p.Tyr250Ter)
 dbSNP gnomAD v3 gnomAD v4
10g.79557236G=CA1922240606SFTPA2c.720C= (p.Tyr240=)
c.771C= (p.Tyr257=)
c.750C= (p.Tyr250=)
10g.79557236G>TCA377352637SFTPA2c.720C>A (p.Tyr240Ter)
c.771C>A (p.Tyr257Ter)
c.750C>A (p.Tyr250Ter)
10g.79557237T>ACA377352638SFTPA2c.719A>T (p.Tyr240Phe)
c.770A>T (p.Tyr257Phe)
c.749A>T (p.Tyr250Phe)
10g.79557237T>CCA377352639SFTPA2c.719A>G (p.Tyr240Cys)
c.770A>G (p.Tyr257Cys)
c.749A>G (p.Tyr250Cys)
10g.79557237T>GCA377352640SFTPA2c.719A>C (p.Tyr240Ser)
c.770A>C (p.Tyr257Ser)
c.749A>C (p.Tyr250Ser)
10g.79557238A>CCA377352641SFTPA2c.718T>G (p.Tyr240Asp)
c.769T>G (p.Tyr257Asp)
c.748T>G (p.Tyr250Asp)
10g.79557238A>GCA377352642SFTPA2c.718T>C (p.Tyr240His)
c.769T>C (p.Tyr257His)
c.748T>C (p.Tyr250His)
 gnomAD v4
10g.79557238A>TCA377352643SFTPA2c.718T>A (p.Tyr240Asn)
c.769T>A (p.Tyr257Asn)
c.748T>A (p.Tyr250Asn)
10g.79557239C>ACA470414456SFTPA2c.717G>T (p.Leu239=)
c.768G>T (p.Leu256=)
c.747G>T (p.Leu249=)
10g.79557239C=CA1922240608SFTPA2c.717G= (p.Leu239=)
c.768G= (p.Leu256=)
c.747G= (p.Leu249=)
10g.79557239C>GCA470414457SFTPA2c.717G>C (p.Leu239=)
c.768G>C (p.Leu256=)
c.747G>C (p.Leu249=)
10g.79557239C>TCA5573977SFTPA2c.717G>A (p.Leu239=)
c.768G>A (p.Leu256=)
c.747G>A (p.Leu249=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557240A>CCA377352644SFTPA2c.716T>G (p.Leu239Arg)
c.767T>G (p.Leu256Arg)
c.746T>G (p.Leu249Arg)
10g.79557240A>GCA377352645SFTPA2c.716T>C (p.Leu239Pro)
c.767T>C (p.Leu256Pro)
c.746T>C (p.Leu249Pro)
10g.79557240A>TCA377352646SFTPA2c.716T>A (p.Leu239Gln)
c.767T>A (p.Leu256Gln)
c.746T>A (p.Leu249Gln)
10g.79557241G>ACA470414458SFTPA2c.715C>T (p.Leu239=)
c.766C>T (p.Leu256=)
c.745C>T (p.Leu249=)
 dbSNP gnomAD v2 gnomAD v4
10g.79557241G>CCA377352647SFTPA2c.715C>G (p.Leu239Val)
c.766C>G (p.Leu256Val)
c.745C>G (p.Leu249Val)
 dbSNP
10g.79557241G=CA1922240612SFTPA2c.715C= (p.Leu239=)
c.766C= (p.Leu256=)
c.745C= (p.Leu249=)
10g.79557241G>TCA377352648SFTPA2c.715C>A (p.Leu239Met)
c.766C>A (p.Leu256Met)
c.745C>A (p.Leu249Met)
10g.79557242G>ACA470414459SFTPA2c.714C>T (p.Cys238=)
c.765C>T (p.Cys255=)
c.744C>T (p.Cys248=)
 dbSNP gnomAD v4
10g.79557242G>CCA377352649SFTPA2c.714C>G (p.Cys238Trp)
c.765C>G (p.Cys255Trp)
c.744C>G (p.Cys248Trp)
 dbSNP
10g.79557242G=CA1922240614SFTPA2c.714C= (p.Cys238=)
c.765C= (p.Cys255=)
c.744C= (p.Cys248=)
10g.79557242G>TCA377352650SFTPA2c.714C>A (p.Cys238Ter)
c.765C>A (p.Cys255Ter)
c.744C>A (p.Cys248Ter)
10g.79557243C>ACA377352651SFTPA2c.713G>T (p.Cys238Phe)
c.764G>T (p.Cys255Phe)
c.743G>T (p.Cys248Phe)
 dbSNP gnomAD v4
10g.79557243C=CA1922240616SFTPA2c.713G= (p.Cys238=)
c.764G= (p.Cys255=)
c.743G= (p.Cys248=)
10g.79557243C>GCA377352652SFTPA2c.713G>C (p.Cys238Ser)
c.764G>C (p.Cys255Ser)
c.743G>C (p.Cys248Ser)
10g.79557243C>TCA377352653SFTPA2c.713G>A (p.Cys238Tyr)
c.764G>A (p.Cys255Tyr)
c.743G>A (p.Cys248Tyr)
10g.79557244A>CCA377352654SFTPA2c.712T>G (p.Cys238Gly)
c.763T>G (p.Cys255Gly)
c.742T>G (p.Cys248Gly)
10g.79557244A>GCA377352655SFTPA2c.712T>C (p.Cys238Arg)
c.763T>C (p.Cys255Arg)
c.742T>C (p.Cys248Arg)
10g.79557244A>TCA377352656SFTPA2c.712T>A (p.Cys238Ser)
c.763T>A (p.Cys255Ser)
c.742T>A (p.Cys248Ser)
10g.79557245G>ACA470414460SFTPA2c.711C>T (p.Asn237=)
c.762C>T (p.Asn254=)
c.741C>T (p.Asn247=)
 dbSNP gnomAD v4
10g.79557245G>CCA377352657SFTPA2c.711C>G (p.Asn237Lys)
c.762C>G (p.Asn254Lys)
c.741C>G (p.Asn247Lys)
10g.79557245G=CA1922240618SFTPA2c.711C= (p.Asn237=)
c.762C= (p.Asn254=)
c.741C= (p.Asn247=)
10g.79557245G>TCA377352658SFTPA2c.711C>A (p.Asn237Lys)
c.762C>A (p.Asn254Lys)
c.741C>A (p.Asn247Lys)
10g.79557246T>ACA377352659SFTPA2c.710A>T (p.Asn237Ile)
c.761A>T (p.Asn254Ile)
c.740A>T (p.Asn247Ile)
10g.79557246T>CCA377352660SFTPA2c.710A>G (p.Asn237Ser)
c.761A>G (p.Asn254Ser)
c.740A>G (p.Asn247Ser)
 dbSNP
10g.79557246T>GCA377352661SFTPA2c.710A>C (p.Asn237Thr)
c.761A>C (p.Asn254Thr)
c.740A>C (p.Asn247Thr)
10g.79557246T=CA1922240622SFTPA2c.710A= (p.Asn237=)
c.761A= (p.Asn254=)
c.740A= (p.Asn247=)
10g.79557247T>ACA377352664SFTPA2c.709A>T (p.Asn237Tyr)
c.760A>T (p.Asn254Tyr)
c.739A>T (p.Asn247Tyr)
10g.79557247T>CCA377352663SFTPA2c.709A>G (p.Asn237Asp)
c.760A>G (p.Asn254Asp)
c.739A>G (p.Asn247Asp)
10g.79557247T>GCA377352662SFTPA2c.709A>C (p.Asn237His)
c.760A>C (p.Asn254His)
c.739A>C (p.Asn247His)
10g.79557248C>ACA377352665SFTPA2c.708G>T (p.Arg236Ser)
c.759G>T (p.Arg253Ser)
c.738G>T (p.Arg246Ser)
 gnomAD v4
10g.79557248C>GCA377352666SFTPA2c.708G>C (p.Arg236Ser)
c.759G>C (p.Arg253Ser)
c.738G>C (p.Arg246Ser)
10g.79557248C>TCA470414461SFTPA2c.708G>A (p.Arg236=)
c.759G>A (p.Arg253=)
c.738G>A (p.Arg246=)
10g.79557249C>ACA377352667SFTPA2c.707G>T (p.Arg236Met)
c.758G>T (p.Arg253Met)
c.737G>T (p.Arg246Met)
10g.79557249C=CA1922240624SFTPA2c.707G= (p.Arg236=)
c.758G= (p.Arg253=)
c.737G= (p.Arg246=)
10g.79557249C>GCA377352668SFTPA2c.707G>C (p.Arg236Thr)
c.758G>C (p.Arg253Thr)
c.737G>C (p.Arg246Thr)
 dbSNP gnomAD v4
10g.79557249C>TCA377352669SFTPA2c.707G>A (p.Arg236Lys)
c.758G>A (p.Arg253Lys)
c.737G>A (p.Arg246Lys)
 gnomAD v4
10g.79557252_79557262delCA2609869137SFTPA2c.697_707del (p.Trp233GlufsTer11)
c.748_758del (p.Trp250GlufsTer11)
c.727_737del (p.Trp243GlufsTer11)
 gnomAD v4
10g.79557250T>ACA377352670SFTPA2c.706A>T (p.Arg236Trp)
c.757A>T (p.Arg253Trp)
c.736A>T (p.Arg246Trp)
10g.79557250T>CCA377352671SFTPA2c.706A>G (p.Arg236Gly)
c.757A>G (p.Arg253Gly)
c.736A>G (p.Arg246Gly)
10g.79557250T>GCA470414462SFTPA2c.706A>C (p.Arg236=)
c.757A>C (p.Arg253=)
c.736A>C (p.Arg246=)
10g.79557251G>ACA470414463SFTPA2c.705C>T (p.Asp235=)
c.756C>T (p.Asp252=)
c.735C>T (p.Asp245=)
 dbSNP gnomAD v2
10g.79557251G>CCA377352672SFTPA2c.705C>G (p.Asp235Glu)
c.756C>G (p.Asp252Glu)
c.735C>G (p.Asp245Glu)
10g.79557251G=CA1922240626SFTPA2c.705C= (p.Asp235=)
c.756C= (p.Asp252=)
c.735C= (p.Asp245=)
10g.79557251G>TCA377352673SFTPA2c.705C>A (p.Asp235Glu)
c.756C>A (p.Asp252Glu)
c.735C>A (p.Asp245Glu)
10g.79557252T>ACA377352674SFTPA2c.704A>T (p.Asp235Val)
c.755A>T (p.Asp252Val)
c.734A>T (p.Asp245Val)
10g.79557252T>CCA377352675SFTPA2c.704A>G (p.Asp235Gly)
c.755A>G (p.Asp252Gly)
c.734A>G (p.Asp245Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.79557252T>GCA377352676SFTPA2c.704A>C (p.Asp235Ala)
c.755A>C (p.Asp252Ala)
c.734A>C (p.Asp245Ala)
 dbSNP gnomAD v2 gnomAD v4
10g.79557252T=CA1922240628SFTPA2c.704A= (p.Asp235=)
c.755A= (p.Asp252=)
c.734A= (p.Asp245=)
10g.79557253C>ACA377352679SFTPA2c.703G>T (p.Asp235Tyr)
c.754G>T (p.Asp252Tyr)
c.733G>T (p.Asp245Tyr)
 gnomAD v4
10g.79557253C>GCA377352678SFTPA2c.703G>C (p.Asp235His)
c.754G>C (p.Asp252His)
c.733G>C (p.Asp245His)
 gnomAD v4
10g.79557253C>TCA377352677SFTPA2c.703G>A (p.Asp235Asn)
c.754G>A (p.Asp252Asn)
c.733G>A (p.Asp245Asn)
10g.79557254A>CCA377352680SFTPA2c.702T>G (p.Asn234Lys)
c.753T>G (p.Asn251Lys)
c.732T>G (p.Asn244Lys)
10g.79557254A>GCA470414465SFTPA2c.702T>C (p.Asn234=)
c.753T>C (p.Asn251=)
c.732T>C (p.Asn244=)
 gnomAD v4
10g.79557254A>TCA377352681SFTPA2c.702T>A (p.Asn234Lys)
c.753T>A (p.Asn251Lys)
c.732T>A (p.Asn244Lys)
10g.79557255T>ACA377352682SFTPA2c.701A>T (p.Asn234Ile)
c.752A>T (p.Asn251Ile)
c.731A>T (p.Asn244Ile)
10g.79557255T>CCA377352683SFTPA2c.701A>G (p.Asn234Ser)
c.752A>G (p.Asn251Ser)
c.731A>G (p.Asn244Ser)
10g.79557255T>GCA377352684SFTPA2c.701A>C (p.Asn234Thr)
c.752A>C (p.Asn251Thr)
c.731A>C (p.Asn244Thr)
10g.79557256T>ACA377352687SFTPA2c.700A>T (p.Asn234Tyr)
c.751A>T (p.Asn251Tyr)
c.730A>T (p.Asn244Tyr)
10g.79557256T>CCA377352686SFTPA2c.700A>G (p.Asn234Asp)
c.751A>G (p.Asn251Asp)
c.730A>G (p.Asn244Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.79557256T>GCA377352685SFTPA2c.700A>C (p.Asn234His)
c.751A>C (p.Asn251His)
c.730A>C (p.Asn244His)
10g.79557256T=CA1922240630SFTPA2c.700A= (p.Asn234=)
c.751A= (p.Asn251=)
c.730A= (p.Asn244=)
10g.79557257C>ACA377352688SFTPA2c.699G>T (p.Trp233Cys)
c.750G>T (p.Trp250Cys)
c.729G>T (p.Trp243Cys)
10g.79557257C=CA1922240634SFTPA2c.699G= (p.Trp233=)
c.750G= (p.Trp250=)
c.729G= (p.Trp243=)
10g.79557257C>GCA377352689SFTPA2c.699G>C (p.Trp233Cys)
c.750G>C (p.Trp250Cys)
c.729G>C (p.Trp243Cys)
10g.79557257C>TCA377352690SFTPA2c.699G>A (p.Trp233Ter)
c.750G>A (p.Trp250Ter)
c.729G>A (p.Trp243Ter)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.79557258C>ACA377352691SFTPA2c.698G>T (p.Trp233Leu)
c.749G>T (p.Trp250Leu)
c.728G>T (p.Trp243Leu)
10g.79557258C>GCA377352692SFTPA2c.698G>C (p.Trp233Ser)
c.749G>C (p.Trp250Ser)
c.728G>C (p.Trp243Ser)
10g.79557258C>TCA377352693SFTPA2c.698G>A (p.Trp233Ter)
c.749G>A (p.Trp250Ter)
c.728G>A (p.Trp243Ter)
10g.79557259A>CCA377352694SFTPA2c.697T>G (p.Trp233Gly)
c.748T>G (p.Trp250Gly)
c.727T>G (p.Trp243Gly)
10g.79557259A>GCA377352696SFTPA2c.697T>C (p.Trp233Arg)
c.748T>C (p.Trp250Arg)
c.727T>C (p.Trp243Arg)
10g.79557259A>TCA377352695SFTPA2c.697T>A (p.Trp233Arg)
c.748T>A (p.Trp250Arg)
c.727T>A (p.Trp243Arg)
 ClinVar dbSNP
10g.79557260C>ACA377352697SFTPA2c.696G>T (p.Gln232His)
c.747G>T (p.Gln249His)
c.726G>T (p.Gln242His)
10g.79557260C>GCA377352698SFTPA2c.696G>C (p.Gln232His)
c.747G>C (p.Gln249His)
c.726G>C (p.Gln242His)
10g.79557260C>TCA470414466SFTPA2c.696G>A (p.Gln232=)
c.747G>A (p.Gln249=)
c.726G>A (p.Gln242=)
10g.79557261T>ACA377352699SFTPA2c.695A>T (p.Gln232Leu)
c.746A>T (p.Gln249Leu)
c.725A>T (p.Gln242Leu)
10g.79557261T>CCA377352700SFTPA2c.695A>G (p.Gln232Arg)
c.746A>G (p.Gln249Arg)
c.725A>G (p.Gln242Arg)
10g.79557261T>GCA377352701SFTPA2c.695A>C (p.Gln232Pro)
c.746A>C (p.Gln249Pro)
c.725A>C (p.Gln242Pro)
10g.79557262G>ACA377352702SFTPA2c.694C>T (p.Gln232Ter)
c.745C>T (p.Gln249Ter)
c.724C>T (p.Gln242Ter)
 dbSNP gnomAD v2 gnomAD v4
10g.79557262G>CCA377352703SFTPA2c.694C>G (p.Gln232Glu)
c.745C>G (p.Gln249Glu)
c.724C>G (p.Gln242Glu)
10g.79557262G=CA1922240638SFTPA2c.694C= (p.Gln232=)
c.745C= (p.Gln249=)
c.724C= (p.Gln242=)
10g.79557262G>TCA377352704SFTPA2c.694C>A (p.Gln232Lys)
c.745C>A (p.Gln249Lys)
c.724C>A (p.Gln242Lys)
10g.79557263C>ACA470414467SFTPA2c.693G>T (p.Gly231=)
c.744G>T (p.Gly248=)
c.723G>T (p.Gly241=)
 dbSNP gnomAD v2 gnomAD v4
10g.79557263C=CA1922240641SFTPA2c.693G= (p.Gly231=)
c.744G= (p.Gly248=)
c.723G= (p.Gly241=)
10g.79557263C>GCA470414468SFTPA2c.693G>C (p.Gly231=)
c.744G>C (p.Gly248=)
c.723G>C (p.Gly241=)
10g.79557263C>TCA470414469SFTPA2c.693G>A (p.Gly231=)
c.744G>A (p.Gly248=)
c.723G>A (p.Gly241=)
10g.79557264C>ACA256736SFTPA2c.692G>T (p.Gly231Val)
c.743G>T (p.Gly248Val)
c.722G>T (p.Gly241Val)
 ClinVar dbSNP
10g.79557264C=CA1922240649SFTPA2c.692G= (p.Gly231=)
c.743G= (p.Gly248=)
c.722G= (p.Gly241=)
10g.79557264C>GCA377352705SFTPA2c.692G>C (p.Gly231Ala)
c.743G>C (p.Gly248Ala)
c.722G>C (p.Gly241Ala)
10g.79557264C>TCA377352706SFTPA2c.692G>A (p.Gly231Glu)
c.743G>A (p.Gly248Glu)
c.722G>A (p.Gly241Glu)
10g.79557265C>ACA377352708SFTPA2c.691G>T (p.Gly231Trp)
c.742G>T (p.Gly248Trp)
c.721G>T (p.Gly241Trp)
10g.79557265C=CA1922240655SFTPA2c.691G= (p.Gly231=)
c.742G= (p.Gly248=)
c.721G= (p.Gly241=)
10g.79557265C>GCA377352709SFTPA2c.691G>C (p.Gly231Arg)
c.742G>C (p.Gly248Arg)
c.721G>C (p.Gly241Arg)
10g.79557265C>TCA377352707SFTPA2c.691G>A (p.Gly231Arg)
c.742G>A (p.Gly248Arg)
c.721G>A (p.Gly241Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.79557266delCA2609869138SFTPA2c.690del (p.Asp230GlufsTer14)
c.741del (p.Asp247GlufsTer14)
c.720del (p.Asp240GlufsTer14)
 gnomAD v4
10g.79557266A=CA1922240658SFTPA2c.690T= (p.Asp230=)
c.741T= (p.Asp247=)
c.720T= (p.Asp240=)
10g.79557266A>CCA377352710SFTPA2c.690T>G (p.Asp230Glu)
c.741T>G (p.Asp247Glu)
c.720T>G (p.Asp240Glu)
10g.79557266A>GCA5573978SFTPA2c.690T>C (p.Asp230=)
c.741T>C (p.Asp247=)
c.720T>C (p.Asp240=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557266A>TCA377352711SFTPA2c.690T>A (p.Asp230Glu)
c.741T>A (p.Asp247Glu)
c.720T>A (p.Asp240Glu)
 gnomAD v4
10g.79557267T>ACA377352712SFTPA2c.689A>T (p.Asp230Val)
c.740A>T (p.Asp247Val)
c.719A>T (p.Asp240Val)
10g.79557267T>CCA377352713SFTPA2c.689A>G (p.Asp230Gly)
c.740A>G (p.Asp247Gly)
c.719A>G (p.Asp240Gly)
10g.79557267T>GCA377352714SFTPA2c.689A>C (p.Asp230Ala)
c.740A>C (p.Asp247Ala)
c.719A>C (p.Asp240Ala)
10g.79557268C>ACA377352715SFTPA2c.688G>T (p.Asp230Tyr)
c.739G>T (p.Asp247Tyr)
c.718G>T (p.Asp240Tyr)
10g.79557268C>GCA377352716SFTPA2c.688G>C (p.Asp230His)
c.739G>C (p.Asp247His)
c.718G>C (p.Asp240His)
10g.79557268C>TCA377352717SFTPA2c.688G>A (p.Asp230Asn)
c.739G>A (p.Asp247Asn)
c.718G>A (p.Asp240Asn)
10g.79557269T>ACA470414470SFTPA2c.687A>T (p.Thr229=)
c.738A>T (p.Thr246=)
c.717A>T (p.Thr239=)
10g.79557269T>CCA470414472SFTPA2c.687A>G (p.Thr229=)
c.738A>G (p.Thr246=)
c.717A>G (p.Thr239=)
10g.79557269T>GCA470414471SFTPA2c.687A>C (p.Thr229=)
c.738A>C (p.Thr246=)
c.717A>C (p.Thr239=)
 COSMIC
10g.79557270G>ACA377352718SFTPA2c.686C>T (p.Thr229Ile)
c.737C>T (p.Thr246Ile)
c.716C>T (p.Thr239Ile)
10g.79557270G>CCA377352719SFTPA2c.686C>G (p.Thr229Arg)
c.737C>G (p.Thr246Arg)
c.716C>G (p.Thr239Arg)
10g.79557270G>TCA377352720SFTPA2c.686C>A (p.Thr229Lys)
c.737C>A (p.Thr246Lys)
c.716C>A (p.Thr239Lys)
10g.79557271T>ACA377352721SFTPA2c.685A>T (p.Thr229Ser)
c.736A>T (p.Thr246Ser)
c.715A>T (p.Thr239Ser)
10g.79557271T>CCA5573979SFTPA2c.685A>G (p.Thr229Ala)
c.736A>G (p.Thr246Ala)
c.715A>G (p.Thr239Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557271T>GCA377352722SFTPA2c.685A>C (p.Thr229Pro)
c.736A>C (p.Thr246Pro)
c.715A>C (p.Thr239Pro)
10g.79557271T=CA1922240662SFTPA2c.685A= (p.Thr229=)
c.736A= (p.Thr246=)
c.715A= (p.Thr239=)
10g.79557272G>ACA470414473SFTPA2c.684C>T (p.Tyr228=)
c.735C>T (p.Tyr245=)
c.714C>T (p.Tyr238=)
10g.79557272G>CCA377352724SFTPA2c.684C>G (p.Tyr228Ter)
c.735C>G (p.Tyr245Ter)
c.714C>G (p.Tyr238Ter)
 gnomAD v4
10g.79557272G>TCA377352723SFTPA2c.684C>A (p.Tyr228Ter)
c.735C>A (p.Tyr245Ter)
c.714C>A (p.Tyr238Ter)
10g.79557273T>ACA377352725SFTPA2c.683A>T (p.Tyr228Phe)
c.734A>T (p.Tyr245Phe)
c.713A>T (p.Tyr238Phe)
10g.79557273T>CCA377352726SFTPA2c.683A>G (p.Tyr228Cys)
c.734A>G (p.Tyr245Cys)
c.713A>G (p.Tyr238Cys)
 COSMIC
10g.79557273T>GCA377352727SFTPA2c.683A>C (p.Tyr228Ser)
c.734A>C (p.Tyr245Ser)
c.713A>C (p.Tyr238Ser)
10g.79557274A=CA1922240664SFTPA2c.682T= (p.Tyr228=)
c.733T= (p.Tyr245=)
c.712T= (p.Tyr238=)
10g.79557274A>CCA377352728SFTPA2c.682T>G (p.Tyr228Asp)
c.733T>G (p.Tyr245Asp)
c.712T>G (p.Tyr238Asp)
10g.79557274A>GCA5573980SFTPA2c.682T>C (p.Tyr228His)
c.733T>C (p.Tyr245His)
c.712T>C (p.Tyr238His)
 dbSNP ExAC gnomAD v2
10g.79557274A>TCA377352729SFTPA2c.682T>A (p.Tyr228Asn)
c.733T>A (p.Tyr245Asn)
c.712T>A (p.Tyr238Asn)
10g.79557275C>ACA377352730SFTPA2c.681G>T (p.Met227Ile)
c.732G>T (p.Met244Ile)
c.711G>T (p.Met237Ile)
10g.79557275C=CA1922240668SFTPA2c.681G= (p.Met227=)
c.732G= (p.Met244=)
c.711G= (p.Met237=)
10g.79557275C>GCA377352731SFTPA2c.681G>C (p.Met227Ile)
c.732G>C (p.Met244Ile)
c.711G>C (p.Met237Ile)
10g.79557275C>TCA5573981SFTPA2c.681G>A (p.Met227Ile)
c.732G>A (p.Met244Ile)
c.711G>A (p.Met237Ile)
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.79557276A>CCA377352732SFTPA2c.680T>G (p.Met227Arg)
c.731T>G (p.Met244Arg)
c.710T>G (p.Met237Arg)
 ClinVar dbSNP
10g.79557276A>GCA377352733SFTPA2c.680T>C (p.Met227Thr)
c.731T>C (p.Met244Thr)
c.710T>C (p.Met237Thr)
10g.79557276A>TCA377352734SFTPA2c.680T>A (p.Met227Lys)
c.731T>A (p.Met244Lys)
c.710T>A (p.Met237Lys)
10g.79557277T>ACA377352737SFTPA2c.679A>T (p.Met227Leu)
c.730A>T (p.Met244Leu)
c.709A>T (p.Met237Leu)
 gnomAD v4
10g.79557277T>CCA377352736SFTPA2c.679A>G (p.Met227Val)
c.730A>G (p.Met244Val)
c.709A>G (p.Met237Val)
10g.79557277T>GCA377352735SFTPA2c.679A>C (p.Met227Leu)
c.730A>C (p.Met244Leu)
c.709A>C (p.Met237Leu)
10g.79557278C>ACA5573982SFTPA2c.678G>T (p.Glu226Asp)
c.729G>T (p.Glu243Asp)
c.708G>T (p.Glu236Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557278C=CA1922240671SFTPA2c.678G= (p.Glu226=)
c.729G= (p.Glu243=)
c.708G= (p.Glu236=)
10g.79557278C>GCA377352738SFTPA2c.678G>C (p.Glu226Asp)
c.729G>C (p.Glu243Asp)
c.708G>C (p.Glu236Asp)
10g.79557278C>TCA470414474SFTPA2c.678G>A (p.Glu226=)
c.729G>A (p.Glu243=)
c.708G>A (p.Glu236=)
 dbSNP gnomAD v4
10g.79557279T>ACA377352739SFTPA2c.677A>T (p.Glu226Val)
c.728A>T (p.Glu243Val)
c.707A>T (p.Glu236Val)
10g.79557279T>CCA377352740SFTPA2c.677A>G (p.Glu226Gly)
c.728A>G (p.Glu243Gly)
c.707A>G (p.Glu236Gly)
10g.79557279T>GCA377352741SFTPA2c.677A>C (p.Glu226Ala)
c.728A>C (p.Glu243Ala)
c.707A>C (p.Glu236Ala)
10g.79557280C>ACA377352742SFTPA2c.676G>T (p.Glu226Ter)
c.727G>T (p.Glu243Ter)
c.706G>T (p.Glu236Ter)
10g.79557280C>GCA377352743SFTPA2c.676G>C (p.Glu226Gln)
c.727G>C (p.Glu243Gln)
c.706G>C (p.Glu236Gln)
10g.79557280C>TCA377352744SFTPA2c.676G>A (p.Glu226Lys)
c.727G>A (p.Glu243Lys)
c.706G>A (p.Glu236Lys)
 ClinVar
10g.79557281C>ACA470414475SFTPA2c.675G>T (p.Val225=)
c.726G>T (p.Val242=)
c.705G>T (p.Val235=)
 gnomAD v4
10g.79557281C>GCA470414476SFTPA2c.675G>C (p.Val225=)
c.726G>C (p.Val242=)
c.705G>C (p.Val235=)
10g.79557281C>TCA470414477SFTPA2c.675G>A (p.Val225=)
c.726G>A (p.Val242=)
c.705G>A (p.Val235=)
10g.79557282A>CCA377352745SFTPA2c.674T>G (p.Val225Gly)
c.725T>G (p.Val242Gly)
c.704T>G (p.Val235Gly)
10g.79557282A>GCA377352746SFTPA2c.674T>C (p.Val225Ala)
c.725T>C (p.Val242Ala)
c.704T>C (p.Val235Ala)
10g.79557282A>TCA377352747SFTPA2c.674T>A (p.Val225Glu)
c.725T>A (p.Val242Glu)
c.704T>A (p.Val235Glu)
10g.79557283C>ACA377352750SFTPA2c.673G>T (p.Val225Leu)
c.724G>T (p.Val242Leu)
c.703G>T (p.Val235Leu)
 dbSNP gnomAD v4
10g.79557283C=CA1922240674SFTPA2c.673G= (p.Val225=)
c.724G= (p.Val242=)
c.703G= (p.Val235=)
10g.79557283C>GCA377352749SFTPA2c.673G>C (p.Val225Leu)
c.724G>C (p.Val242Leu)
c.703G>C (p.Val235Leu)
10g.79557283C>TCA377352748SFTPA2c.673G>A (p.Val225Met)
c.724G>A (p.Val242Met)
c.703G>A (p.Val235Met)
10g.79557284A>CCA377352751SFTPA2c.672T>G (p.Cys224Trp)
c.723T>G (p.Cys241Trp)
c.702T>G (p.Cys234Trp)
10g.79557284A>GCA470414478SFTPA2c.672T>C (p.Cys224=)
c.723T>C (p.Cys241=)
c.702T>C (p.Cys234=)
10g.79557284A>TCA377352752SFTPA2c.672T>A (p.Cys224Ter)
c.723T>A (p.Cys241Ter)
c.702T>A (p.Cys234Ter)
 COSMIC
10g.79557285C>ACA377352753SFTPA2c.671G>T (p.Cys224Phe)
c.722G>T (p.Cys241Phe)
c.701G>T (p.Cys234Phe)
10g.79557285C>GCA377352754SFTPA2c.671G>C (p.Cys224Ser)
c.722G>C (p.Cys241Ser)
c.701G>C (p.Cys234Ser)
10g.79557285C>TCA377352755SFTPA2c.671G>A (p.Cys224Tyr)
c.722G>A (p.Cys241Tyr)
c.701G>A (p.Cys234Tyr)
 gnomAD v4
10g.79557286A>CCA377352756SFTPA2c.670T>G (p.Cys224Gly)
c.721T>G (p.Cys241Gly)
c.700T>G (p.Cys234Gly)
10g.79557286A>GCA377352757SFTPA2c.670T>C (p.Cys224Arg)
c.721T>C (p.Cys241Arg)
c.700T>C (p.Cys234Arg)
10g.79557286A>TCA377352758SFTPA2c.670T>A (p.Cys224Ser)
c.721T>A (p.Cys241Ser)
c.700T>A (p.Cys234Ser)
10g.79557287C>ACA377352759SFTPA2c.669G>T (p.Gln223His)
c.720G>T (p.Gln240His)
c.699G>T (p.Gln233His)
10g.79557287C=CA1922240676SFTPA2c.669G= (p.Gln223=)
c.720G= (p.Gln240=)
c.699G= (p.Gln233=)
10g.79557287C>GCA377352760SFTPA2c.669G>C (p.Gln223His)
c.720G>C (p.Gln240His)
c.699G>C (p.Gln233His)
10g.79557287C>TCA470414479SFTPA2c.669G>A (p.Gln223=)
c.720G>A (p.Gln240=)
c.699G>A (p.Gln233=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557288T>ACA377352761SFTPA2c.668A>T (p.Gln223Leu)
c.719A>T (p.Gln240Leu)
c.698A>T (p.Gln233Leu)
10g.79557288T>CCA377352762SFTPA2c.668A>G (p.Gln223Arg)
c.719A>G (p.Gln240Arg)
c.698A>G (p.Gln233Arg)
 dbSNP
10g.79557288T>GCA377352763SFTPA2c.668A>C (p.Gln223Pro)
c.719A>C (p.Gln240Pro)
c.698A>C (p.Gln233Pro)
10g.79557288T=CA1922240679SFTPA2c.668A= (p.Gln223=)
c.719A= (p.Gln240=)
c.698A= (p.Gln233=)
10g.79557289G>ACA377352764SFTPA2c.667C>T (p.Gln223Ter)
c.718C>T (p.Gln240Ter)
c.697C>T (p.Gln233Ter)
 gnomAD v4
10g.79557289G>CCA377352765SFTPA2c.667C>G (p.Gln223Glu)
c.718C>G (p.Gln240Glu)
c.697C>G (p.Gln233Glu)
10g.79557289G=CA1630848392SFTPA2c.667C= (p.Gln223=)
c.718C= (p.Gln240=)
c.697C= (p.Gln233=)
10g.79557289G>TCA5573983SFTPA2c.667C>A (p.Gln223Lys)
c.718C>A (p.Gln240Lys)
c.697C>A (p.Gln233Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557290C>ACA377352767SFTPA2c.666G>T (p.Glu222Asp)
c.717G>T (p.Glu239Asp)
c.696G>T (p.Glu232Asp)
10g.79557290C>GCA377352766SFTPA2c.666G>C (p.Glu222Asp)
c.717G>C (p.Glu239Asp)
c.696G>C (p.Glu232Asp)
10g.79557290C>TCA470414480SFTPA2c.666G>A (p.Glu222=)
c.717G>A (p.Glu239=)
c.696G>A (p.Glu232=)
 gnomAD v4
10g.79557291T>ACA377352768SFTPA2c.665A>T (p.Glu222Val)
c.716A>T (p.Glu239Val)
c.695A>T (p.Glu232Val)
10g.79557291T>CCA377352769SFTPA2c.665A>G (p.Glu222Gly)
c.716A>G (p.Glu239Gly)
c.695A>G (p.Glu232Gly)
 gnomAD v4
10g.79557291T>GCA377352770SFTPA2c.665A>C (p.Glu222Ala)
c.716A>C (p.Glu239Ala)
c.695A>C (p.Glu232Ala)
10g.79557292C>ACA5573984SFTPA2c.664G>T (p.Glu222Ter)
c.715G>T (p.Glu239Ter)
c.694G>T (p.Glu232Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557292C=CA1922240687SFTPA2c.664G= (p.Glu222=)
c.715G= (p.Glu239=)
c.694G= (p.Glu232=)
10g.79557292C>GCA377352771SFTPA2c.664G>C (p.Glu222Gln)
c.715G>C (p.Glu239Gln)
c.694G>C (p.Glu232Gln)
 gnomAD v4 COSMIC
10g.79557292C>TCA377352772SFTPA2c.664G>A (p.Glu222Lys)
c.715G>A (p.Glu239Lys)
c.694G>A (p.Glu232Lys)
10g.79557293T>ACA377352773SFTPA2c.663A>T (p.Lys221Asn)
c.714A>T (p.Lys238Asn)
c.693A>T (p.Lys231Asn)
10g.79557293T>CCA470414481SFTPA2c.663A>G (p.Lys221=)
c.714A>G (p.Lys238=)
c.693A>G (p.Lys231=)
10g.79557293T>GCA377352774SFTPA2c.663A>C (p.Lys221Asn)
c.714A>C (p.Lys238Asn)
c.693A>C (p.Lys231Asn)
10g.79557294T>ACA377352775SFTPA2c.662A>T (p.Lys221Ile)
c.713A>T (p.Lys238Ile)
c.692A>T (p.Lys231Ile)
10g.79557294T>CCA377352776SFTPA2c.662A>G (p.Lys221Arg)
c.713A>G (p.Lys238Arg)
c.692A>G (p.Lys231Arg)
10g.79557294T>GCA377352777SFTPA2c.662A>C (p.Lys221Thr)
c.713A>C (p.Lys238Thr)
c.692A>C (p.Lys231Thr)
 gnomAD v4
10g.79557295T>ACA210248098SFTPA2c.661A>T (p.Lys221Ter)
c.712A>T (p.Lys238Ter)
c.691A>T (p.Lys231Ter)
 dbSNP gnomAD v3 gnomAD v4
10g.79557295T>CCA377352779SFTPA2c.661A>G (p.Lys221Glu)
c.712A>G (p.Lys238Glu)
c.691A>G (p.Lys231Glu)
10g.79557295T>GCA377352778SFTPA2c.661A>C (p.Lys221Gln)
c.712A>C (p.Lys238Gln)
c.691A>C (p.Lys231Gln)
10g.79557295T=CA1922240692SFTPA2c.661A= (p.Lys221=)
c.712A= (p.Lys238=)
c.691A= (p.Lys231=)
10g.79557296T>ACA470414483SFTPA2c.660A>T (p.Gly220=)
c.711A>T (p.Gly237=)
c.690A>T (p.Gly230=)
10g.79557296T>CCA470414484SFTPA2c.660A>G (p.Gly220=)
c.711A>G (p.Gly237=)
c.690A>G (p.Gly230=)
 gnomAD v4
10g.79557296T>GCA470414485SFTPA2c.660A>C (p.Gly220=)
c.711A>C (p.Gly237=)
c.690A>C (p.Gly230=)
10g.79557297C>ACA377352780SFTPA2c.659G>T (p.Gly220Val)
c.710G>T (p.Gly237Val)
c.689G>T (p.Gly230Val)
10g.79557297C=CA1922240694SFTPA2c.659G= (p.Gly220=)
c.710G= (p.Gly237=)
c.689G= (p.Gly230=)
10g.79557297C>GCA377352781SFTPA2c.659G>C (p.Gly220Ala)
c.710G>C (p.Gly237Ala)
c.689G>C (p.Gly230Ala)
10g.79557297C>TCA377352782SFTPA2c.659G>A (p.Gly220Glu)
c.710G>A (p.Gly237Glu)
c.689G>A (p.Gly230Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.79557298C>ACA377352783SFTPA2c.658G>T (p.Gly220Ter)
c.709G>T (p.Gly237Ter)
c.688G>T (p.Gly230Ter)
10g.79557298C>GCA377352784SFTPA2c.658G>C (p.Gly220Arg)
c.709G>C (p.Gly237Arg)
c.688G>C (p.Gly230Arg)
10g.79557298C>TCA377352785SFTPA2c.658G>A (p.Gly220Arg)
c.709G>A (p.Gly237Arg)
c.688G>A (p.Gly230Arg)
10g.79557299C>ACA470414487SFTPA2c.657G>T (p.Arg219=)
c.708G>T (p.Arg236=)
c.687G>T (p.Arg229=)
10g.79557299C=CA1922240697SFTPA2c.657G= (p.Arg219=)
c.708G= (p.Arg236=)
c.687G= (p.Arg229=)
10g.79557299C>GCA470414488SFTPA2c.657G>C (p.Arg219=)
c.708G>C (p.Arg236=)
c.687G>C (p.Arg229=)
10g.79557299C>TCA5573985SFTPA2c.657G>A (p.Arg219=)
c.708G>A (p.Arg236=)
c.687G>A (p.Arg229=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557300C>ACA377352786SFTPA2c.656G>T (p.Arg219Leu)
c.707G>T (p.Arg236Leu)
c.686G>T (p.Arg229Leu)
 ClinVar dbSNP
10g.79557300C=CA1922240702SFTPA2c.656G= (p.Arg219=)
c.707G= (p.Arg236=)
c.686G= (p.Arg229=)
10g.79557300C>GCA377352787SFTPA2c.656G>C (p.Arg219Pro)
c.707G>C (p.Arg236Pro)
c.686G>C (p.Arg229Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557300C>TCA5573986SFTPA2c.656G>A (p.Arg219Gln)
c.707G>A (p.Arg236Gln)
c.686G>A (p.Arg229Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557301delCA2609869139SFTPA2c.655del (p.Arg219GlyfsTer25)
c.706del (p.Arg236GlyfsTer25)
c.685del (p.Arg229GlyfsTer25)
 gnomAD v4
10g.79557301G>ACA5573987SFTPA2c.655C>T (p.Arg219Trp)
c.706C>T (p.Arg236Trp)
c.685C>T (p.Arg229Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557301G>CCA377352788SFTPA2c.655C>G (p.Arg219Gly)
c.706C>G (p.Arg236Gly)
c.685C>G (p.Arg229Gly)
 gnomAD v4
10g.79557301G=CA1922240709SFTPA2c.655C= (p.Arg219=)
c.706C= (p.Arg236=)
c.685C= (p.Arg229=)
10g.79557301G>TCA470414489SFTPA2c.655C>A (p.Arg219=)
c.706C>A (p.Arg236=)
c.685C>A (p.Arg229=)
 gnomAD v4
10g.79557301_79557321delinsGACCTGCAGGCTCCCCTCGGTCA1922240710SFTPA2c.635_655delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr212=)
c.686_706delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr229=)
c.665_685delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr222=)
10g.79557302A=CA1922240716SFTPA2c.654T= (p.Gly218=)
c.705T= (p.Gly235=)
c.684T= (p.Gly228=)
10g.79557302A>CCA470414490SFTPA2c.654T>G (p.Gly218=)
c.705T>G (p.Gly235=)
c.684T>G (p.Gly228=)
 COSMIC
10g.79557302A>GCA470414492SFTPA2c.654T>C (p.Gly218=)
c.705T>C (p.Gly235=)
c.684T>C (p.Gly228=)
 dbSNP gnomAD v3 gnomAD v4
10g.79557302A>TCA470414491SFTPA2c.654T>A (p.Gly218=)
c.705T>A (p.Gly235=)
c.684T>A (p.Gly228=)
10g.79557305_79557324delCA5573988SFTPA2c.635_654del (p.Tyr212SerfsTer17)
c.686_705del (p.Tyr229SerfsTer17)
c.665_684del (p.Tyr222SerfsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557303C>ACA377352791SFTPA2c.653G>T (p.Gly218Val)
c.704G>T (p.Gly235Val)
c.683G>T (p.Gly228Val)
 dbSNP gnomAD v2 gnomAD v4
10g.79557303C=CA1922240719SFTPA2c.653G= (p.Gly218=)
c.704G= (p.Gly235=)
c.683G= (p.Gly228=)
10g.79557303C>GCA377352790SFTPA2c.653G>C (p.Gly218Ala)
c.704G>C (p.Gly235Ala)
c.683G>C (p.Gly228Ala)
10g.79557303C>TCA377352789SFTPA2c.653G>A (p.Gly218Asp)
c.704G>A (p.Gly235Asp)
c.683G>A (p.Gly228Asp)
10g.79557304C>ACA377352792SFTPA2c.652G>T (p.Gly218Cys)
c.703G>T (p.Gly235Cys)
c.682G>T (p.Gly228Cys)
10g.79557304C=CA1922240723SFTPA2c.652G= (p.Gly218=)
c.703G= (p.Gly235=)
c.682G= (p.Gly228=)
10g.79557304C>GCA377352793SFTPA2c.652G>C (p.Gly218Arg)
c.703G>C (p.Gly235Arg)
c.682G>C (p.Gly228Arg)
 dbSNP gnomAD v4
10g.79557304C>TCA377352794SFTPA2c.652G>A (p.Gly218Ser)
c.703G>A (p.Gly235Ser)
c.682G>A (p.Gly228Ser)
10g.79557305T>ACA470414493SFTPA2c.651A>T (p.Ala217=)
c.702A>T (p.Ala234=)
c.681A>T (p.Ala227=)
10g.79557305T>CCA470414494SFTPA2c.651A>G (p.Ala217=)
c.702A>G (p.Ala234=)
c.681A>G (p.Ala227=)
10g.79557305T>GCA470414495SFTPA2c.651A>C (p.Ala217=)
c.702A>C (p.Ala234=)
c.681A>C (p.Ala227=)
10g.79557306G>ACA377352795SFTPA2c.650C>T (p.Ala217Val)
c.701C>T (p.Ala234Val)
c.680C>T (p.Ala227Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557306G>CCA377352796SFTPA2c.650C>G (p.Ala217Gly)
c.701C>G (p.Ala234Gly)
c.680C>G (p.Ala227Gly)
10g.79557306G=CA1922240728SFTPA2c.650C= (p.Ala217=)
c.701C= (p.Ala234=)
c.680C= (p.Ala227=)
10g.79557306G>TCA377352797SFTPA2c.650C>A (p.Ala217Glu)
c.701C>A (p.Ala234Glu)
c.680C>A (p.Ala227Glu)
 gnomAD v4
10g.79557307C>ACA5573989SFTPA2c.649G>T (p.Ala217Ser)
c.700G>T (p.Ala234Ser)
c.679G>T (p.Ala227Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557307C=CA1922240731SFTPA2c.649G= (p.Ala217=)
c.700G= (p.Ala234=)
c.679G= (p.Ala227=)
10g.79557307C>GCA5573990SFTPA2c.649G>C (p.Ala217Pro)
c.700G>C (p.Ala234Pro)
c.679G>C (p.Ala227Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557307C>TCA377352798SFTPA2c.649G>A (p.Ala217Thr)
c.700G>A (p.Ala234Thr)
c.679G>A (p.Ala227Thr)
 gnomAD v4
10g.79557308A=CA1922240740SFTPA2c.648T= (p.Pro216=)
c.699T= (p.Pro233=)
c.678T= (p.Pro226=)
10g.79557308A>CCA210248127SFTPA2c.648T>G (p.Pro216=)
c.699T>G (p.Pro233=)
c.678T>G (p.Pro226=)
 dbSNP gnomAD v2 gnomAD v4
10g.79557308A>GCA5573991SFTPA2c.648T>C (p.Pro216=)
c.699T>C (p.Pro233=)
c.678T>C (p.Pro226=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557308A>TCA470414496SFTPA2c.648T>A (p.Pro216=)
c.699T>A (p.Pro233=)
c.678T>A (p.Pro226=)
10g.79557309G>ACA377352799SFTPA2c.647C>T (p.Pro216Leu)
c.698C>T (p.Pro233Leu)
c.677C>T (p.Pro226Leu)
10g.79557309G>CCA377352800SFTPA2c.647C>G (p.Pro216Arg)
c.698C>G (p.Pro233Arg)
c.677C>G (p.Pro226Arg)
10g.79557309G>TCA377352801SFTPA2c.647C>A (p.Pro216His)
c.698C>A (p.Pro233His)
c.677C>A (p.Pro226His)
10g.79557310G>ACA377352803SFTPA2c.646C>T (p.Pro216Ser)
c.697C>T (p.Pro233Ser)
c.676C>T (p.Pro226Ser)
 gnomAD v4
10g.79557310G>CCA377352804SFTPA2c.646C>G (p.Pro216Ala)
c.697C>G (p.Pro233Ala)
c.676C>G (p.Pro226Ala)
10g.79557310G>TCA377352802SFTPA2c.646C>A (p.Pro216Thr)
c.697C>A (p.Pro233Thr)
c.676C>A (p.Pro226Thr)
10g.79557310_79557311insACA2788683859SFTPA2c.645_646insT (p.Pro216SerfsTer20)
c.696_697insT (p.Pro233SerfsTer20)
c.675_676insT (p.Pro226SerfsTer20)
10g.79557311C>ACA377352805SFTPA2c.645G>T (p.Glu215Asp)
c.696G>T (p.Glu232Asp)
c.675G>T (p.Glu225Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.79557311C=CA1922240743SFTPA2c.645G= (p.Glu215=)
c.696G= (p.Glu232=)
c.675G= (p.Glu225=)
10g.79557311C>GCA377352806SFTPA2c.645G>C (p.Glu215Asp)
c.696G>C (p.Glu232Asp)
c.675G>C (p.Glu225Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.79557311C>TCA470414497SFTPA2c.645G>A (p.Glu215=)
c.696G>A (p.Glu232=)
c.675G>A (p.Glu225=)
 gnomAD v4
10g.79557312T>ACA377352807SFTPA2c.644A>T (p.Glu215Val)
c.695A>T (p.Glu232Val)
c.674A>T (p.Glu225Val)
10g.79557312T>CCA377352808SFTPA2c.644A>G (p.Glu215Gly)
c.695A>G (p.Glu232Gly)
c.674A>G (p.Glu225Gly)
10g.79557312T>GCA377352809SFTPA2c.644A>C (p.Glu215Ala)
c.695A>C (p.Glu232Ala)
c.674A>C (p.Glu225Ala)
10g.79557313C>ACA377352812SFTPA2c.643G>T (p.Glu215Ter)
c.694G>T (p.Glu232Ter)
c.673G>T (p.Glu225Ter)
10g.79557313C=CA1922240746SFTPA2c.643G= (p.Glu215=)
c.694G= (p.Glu232=)
c.673G= (p.Glu225=)
10g.79557313C>GCA377352810SFTPA2c.643G>C (p.Glu215Gln)
c.694G>C (p.Glu232Gln)
c.673G>C (p.Glu225Gln)
10g.79557313C>TCA377352811SFTPA2c.643G>A (p.Glu215Lys)
c.694G>A (p.Glu232Lys)
c.673G>A (p.Glu225Lys)
 dbSNP gnomAD v4
10g.79557314C>ACA470414498SFTPA2c.642G>T (p.Gly214=)
c.693G>T (p.Gly231=)
c.672G>T (p.Gly224=)
10g.79557314C>GCA470414499SFTPA2c.642G>C (p.Gly214=)
c.693G>C (p.Gly231=)
c.672G>C (p.Gly224=)
10g.79557314C>TCA470414500SFTPA2c.642G>A (p.Gly214=)
c.693G>A (p.Gly231=)
c.672G>A (p.Gly224=)
10g.79557315C>ACA377352813SFTPA2c.641G>T (p.Gly214Val)
c.692G>T (p.Gly231Val)
c.671G>T (p.Gly224Val)
10g.79557315C=CA1922240749SFTPA2c.641G= (p.Gly214=)
c.692G= (p.Gly231=)
c.671G= (p.Gly224=)
10g.79557315C>GCA377352814SFTPA2c.641G>C (p.Gly214Ala)
c.692G>C (p.Gly231Ala)
c.671G>C (p.Gly224Ala)
10g.79557315C>TCA5573992SFTPA2c.641G>A (p.Gly214Glu)
c.692G>A (p.Gly231Glu)
c.671G>A (p.Gly224Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557316C>ACA377352815SFTPA2c.640G>T (p.Gly214Trp)
c.691G>T (p.Gly231Trp)
c.670G>T (p.Gly224Trp)
10g.79557316C>GCA377352816SFTPA2c.640G>C (p.Gly214Arg)
c.691G>C (p.Gly231Arg)
c.670G>C (p.Gly224Arg)
10g.79557316C>TCA377352817SFTPA2c.640G>A (p.Gly214Arg)
c.691G>A (p.Gly231Arg)
c.670G>A (p.Gly224Arg)
10g.79557317T>ACA210248152SFTPA2c.639A>T (p.Arg213=)
c.690A>T (p.Arg230=)
c.669A>T (p.Arg223=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557317T>CCA470414501SFTPA2c.639A>G (p.Arg213=)
c.690A>G (p.Arg230=)
c.669A>G (p.Arg223=)
10g.79557317T>GCA470414502SFTPA2c.639A>C (p.Arg213=)
c.690A>C (p.Arg230=)
c.669A>C (p.Arg223=)
10g.79557317T=CA1922240752SFTPA2c.639A= (p.Arg213=)
c.690A= (p.Arg230=)
c.669A= (p.Arg223=)
10g.79557318C>ACA5573993SFTPA2c.638G>T (p.Arg213Leu)
c.689G>T (p.Arg230Leu)
c.668G>T (p.Arg223Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557318C=CA1922240757SFTPA2c.638G= (p.Arg213=)
c.689G= (p.Arg230=)
c.668G= (p.Arg223=)
10g.79557318C>GCA377352819SFTPA2c.638G>C (p.Arg213Pro)
c.689G>C (p.Arg230Pro)
c.668G>C (p.Arg223Pro)
 dbSNP gnomAD v3 gnomAD v4
10g.79557318C>TCA377352818SFTPA2c.638G>A (p.Arg213Gln)
c.689G>A (p.Arg230Gln)
c.668G>A (p.Arg223Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557319G>ACA5573995SFTPA2c.637C>T (p.Arg213Ter)
c.688C>T (p.Arg230Ter)
c.667C>T (p.Arg223Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557319G>CCA5573994SFTPA2c.637C>G (p.Arg213Gly)
c.688C>G (p.Arg230Gly)
c.667C>G (p.Arg223Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557319G=CA1922240760SFTPA2c.637C= (p.Arg213=)
c.688C= (p.Arg230=)
c.667C= (p.Arg223=)
10g.79557319G>TCA470414504SFTPA2c.637C>A (p.Arg213=)
c.688C>A (p.Arg230=)
c.667C>A (p.Arg223=)
 dbSNP gnomAD v2 gnomAD v4
10g.79557320G>ACA470414505SFTPA2c.636C>T (p.Tyr212=)
c.687C>T (p.Tyr229=)
c.666C>T (p.Tyr222=)
 dbSNP gnomAD v2 gnomAD v4
10g.79557320G>CCA377352821SFTPA2c.636C>G (p.Tyr212Ter)
c.687C>G (p.Tyr229Ter)
c.666C>G (p.Tyr222Ter)
 gnomAD v4
10g.79557320G=CA1922240764SFTPA2c.636C= (p.Tyr212=)
c.687C= (p.Tyr229=)
c.666C= (p.Tyr222=)
10g.79557320G>TCA377352820SFTPA2c.636C>A (p.Tyr212Ter)
c.687C>A (p.Tyr229Ter)
c.666C>A (p.Tyr222Ter)
10g.79557321T>ACA377352824SFTPA2c.635A>T (p.Tyr212Phe)
c.686A>T (p.Tyr229Phe)
c.665A>T (p.Tyr222Phe)
10g.79557321T>CCA377352822SFTPA2c.635A>G (p.Tyr212Cys)
c.686A>G (p.Tyr229Cys)
c.665A>G (p.Tyr222Cys)
10g.79557321T>GCA377352823SFTPA2c.635A>C (p.Tyr212Ser)
c.686A>C (p.Tyr229Ser)
c.665A>C (p.Tyr222Ser)
10g.79557322A>CCA377352825SFTPA2c.634T>G (p.Tyr212Asp)
c.685T>G (p.Tyr229Asp)
c.664T>G (p.Tyr222Asp)
10g.79557322A>GCA377352826SFTPA2c.634T>C (p.Tyr212His)
c.685T>C (p.Tyr229His)
c.664T>C (p.Tyr222His)
10g.79557322A>TCA377352827SFTPA2c.634T>A (p.Tyr212Asn)
c.685T>A (p.Tyr229Asn)
c.664T>A (p.Tyr222Asn)
10g.79557323C>ACA377352828SFTPA2c.633G>T (p.Trp211Cys)
c.684G>T (p.Trp228Cys)
c.663G>T (p.Trp221Cys)
10g.79557323C>GCA377352829SFTPA2c.633G>C (p.Trp211Cys)
c.684G>C (p.Trp228Cys)
c.663G>C (p.Trp221Cys)
10g.79557323C>TCA377352830SFTPA2c.633G>A (p.Trp211Ter)
c.684G>A (p.Trp228Ter)
c.663G>A (p.Trp221Ter)
10g.79557324C>ACA377352831SFTPA2c.632G>T (p.Trp211Leu)
c.683G>T (p.Trp228Leu)
c.662G>T (p.Trp221Leu)
10g.79557324C=CA1922240767SFTPA2c.632G= (p.Trp211=)
c.683G= (p.Trp228=)
c.662G= (p.Trp221=)
10g.79557324C>GCA377352832SFTPA2c.632G>C (p.Trp211Ser)
c.683G>C (p.Trp228Ser)
c.662G>C (p.Trp221Ser)
10g.79557324C>TCA377352833SFTPA2c.632G>A (p.Trp211Ter)
c.683G>A (p.Trp228Ter)
c.662G>A (p.Trp221Ter)
 dbSNP gnomAD v3 gnomAD v4
10g.79557325A>CCA377352836SFTPA2c.631T>G (p.Trp211Gly)
c.682T>G (p.Trp228Gly)
c.661T>G (p.Trp221Gly)
10g.79557325A>GCA377352835SFTPA2c.631T>C (p.Trp211Arg)
c.682T>C (p.Trp228Arg)
c.661T>C (p.Trp221Arg)
10g.79557325A>TCA377352834SFTPA2c.631T>A (p.Trp211Arg)
c.682T>A (p.Trp228Arg)
c.661T>A (p.Trp221Arg)
10g.79557326G>ACA210248179SFTPA2c.630C>T (p.Asn210=)
c.681C>T (p.Asn227=)
c.660C>T (p.Asn220=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557326G>CCA377352837SFTPA2c.630C>G (p.Asn210Lys)
c.681C>G (p.Asn227Lys)
c.660C>G (p.Asn220Lys)
 dbSNP
10g.79557326G=CA1922240771SFTPA2c.630C= (p.Asn210=)
c.681C= (p.Asn227=)
c.660C= (p.Asn220=)
10g.79557326G>TCA377352838SFTPA2c.630C>A (p.Asn210Lys)
c.681C>A (p.Asn227Lys)
c.660C>A (p.Asn220Lys)
10g.79557327T>ACA377352839SFTPA2c.629A>T (p.Asn210Ile)
c.680A>T (p.Asn227Ile)
c.659A>T (p.Asn220Ile)
10g.79557327T>CCA5573996SFTPA2c.629A>G (p.Asn210Ser)
c.680A>G (p.Asn227Ser)
c.659A>G (p.Asn220Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557327T>GCA377352840SFTPA2c.629A>C (p.Asn210Thr)
c.680A>C (p.Asn227Thr)
c.659A>C (p.Asn220Thr)
10g.79557327T=CA1922240778SFTPA2c.629A= (p.Asn210=)
c.680A= (p.Asn227=)
c.659A= (p.Asn220=)
10g.79557328T>ACA377352841SFTPA2c.628A>T (p.Asn210Tyr)
c.679A>T (p.Asn227Tyr)
c.658A>T (p.Asn220Tyr)
10g.79557328T>CCA377352842SFTPA2c.628A>G (p.Asn210Asp)
c.679A>G (p.Asn227Asp)
c.658A>G (p.Asn220Asp)
10g.79557328T>GCA377352843SFTPA2c.628A>C (p.Asn210His)
c.679A>C (p.Asn227His)
c.658A>C (p.Asn220His)
10g.79557329G>ACA470414506SFTPA2c.627C>T (p.Thr209=)
c.678C>T (p.Thr226=)
c.657C>T (p.Thr219=)
10g.79557329G>CCA470414507SFTPA2c.627C>G (p.Thr209=)
c.678C>G (p.Thr226=)
c.657C>G (p.Thr219=)
10g.79557329G>TCA470414508SFTPA2c.627C>A (p.Thr209=)
c.678C>A (p.Thr226=)
c.657C>A (p.Thr219=)
10g.79557330G>ACA377352844SFTPA2c.626C>T (p.Thr209Ile)
c.677C>T (p.Thr226Ile)
c.656C>T (p.Thr219Ile)
10g.79557330G>CCA377352845SFTPA2c.626C>G (p.Thr209Ser)
c.677C>G (p.Thr226Ser)
c.656C>G (p.Thr219Ser)
 gnomAD v4
10g.79557330G>TCA377352846SFTPA2c.626C>A (p.Thr209Asn)
c.677C>A (p.Thr226Asn)
c.656C>A (p.Thr219Asn)

Number of alleles fetched