Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.79557348C>ACA377352884SFTPA2c.608G>T (p.Gly203Val)
c.659G>T (p.Gly220Val)
c.638G>T (p.Gly213Val)
10g.79557348C=CA1922240806SFTPA2c.608G= (p.Gly203=)
c.659G= (p.Gly220=)
c.638G= (p.Gly213=)
10g.79557348C>GCA377352883SFTPA2c.608G>C (p.Gly203Ala)
c.659G>C (p.Gly220Ala)
c.638G>C (p.Gly213Ala)
10g.79557348C>TCA5574000SFTPA2c.608G>A (p.Gly203Glu)
c.659G>A (p.Gly220Glu)
c.638G>A (p.Gly213Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557349C>ACA377352885SFTPA2c.607G>T (p.Gly203Trp)
c.658G>T (p.Gly220Trp)
c.637G>T (p.Gly213Trp)
10g.79557349C>GCA377352886SFTPA2c.607G>C (p.Gly203Arg)
c.658G>C (p.Gly220Arg)
c.637G>C (p.Gly213Arg)
10g.79557349C>TCA377352887SFTPA2c.607G>A (p.Gly203Arg)
c.658G>A (p.Gly220Arg)
c.637G>A (p.Gly213Arg)
10g.79557350A=CA1922240811SFTPA2c.606T= (p.Asp202=)
c.657T= (p.Asp219=)
c.636T= (p.Asp212=)
10g.79557350A>CCA377352888SFTPA2c.606T>G (p.Asp202Glu)
c.657T>G (p.Asp219Glu)
c.636T>G (p.Asp212Glu)
gnomAD v4
10g.79557350A>GCA5574001SFTPA2c.606T>C (p.Asp202=)
c.657T>C (p.Asp219=)
c.636T>C (p.Asp212=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557350A>TCA377352889SFTPA2c.606T>A (p.Asp202Glu)
c.657T>A (p.Asp219Glu)
c.636T>A (p.Asp212Glu)
gnomAD v4
10g.79557351T>ACA377352890SFTPA2c.605A>T (p.Asp202Val)
c.656A>T (p.Asp219Val)
c.635A>T (p.Asp212Val)
10g.79557351T>CCA377352892SFTPA2c.605A>G (p.Asp202Gly)
c.656A>G (p.Asp219Gly)
c.635A>G (p.Asp212Gly)
gnomAD v4
10g.79557351T>GCA377352891SFTPA2c.605A>C (p.Asp202Ala)
c.656A>C (p.Asp219Ala)
c.635A>C (p.Asp212Ala)
gnomAD v4
10g.79557352C>ACA377352893SFTPA2c.604G>T (p.Asp202Tyr)
c.655G>T (p.Asp219Tyr)
c.634G>T (p.Asp212Tyr)
gnomAD v4
10g.79557352C>GCA377352894SFTPA2c.604G>C (p.Asp202His)
c.655G>C (p.Asp219His)
c.634G>C (p.Asp212His)
10g.79557352C>TCA377352895SFTPA2c.604G>A (p.Asp202Asn)
c.655G>A (p.Asp219Asn)
c.634G>A (p.Asp212Asn)
gnomAD v4
10g.79557353T>ACA470414521SFTPA2c.603A>T (p.Ser201=)
c.654A>T (p.Ser218=)
c.633A>T (p.Ser211=)
10g.79557353T>CCA470414522SFTPA2c.603A>G (p.Ser201=)
c.654A>G (p.Ser218=)
c.633A>G (p.Ser211=)
gnomAD v4
10g.79557353T>GCA470414523SFTPA2c.603A>C (p.Ser201=)
c.654A>C (p.Ser218=)
c.633A>C (p.Ser211=)
10g.79557354G>ACA377352896SFTPA2c.602C>T (p.Ser201Leu)
c.653C>T (p.Ser218Leu)
c.632C>T (p.Ser211Leu)
10g.79557354G>CCA377352897SFTPA2c.602C>G (p.Ser201Ter)
c.653C>G (p.Ser218Ter)
c.632C>G (p.Ser211Ter)
10g.79557354G>TCA377352898SFTPA2c.602C>A (p.Ser201Ter)
c.653C>A (p.Ser218Ter)
c.632C>A (p.Ser211Ter)
10g.79557355A>CCA377352899SFTPA2c.601T>G (p.Ser201Ala)
c.652T>G (p.Ser218Ala)
c.631T>G (p.Ser211Ala)
10g.79557355A>GCA377352900SFTPA2c.601T>C (p.Ser201Pro)
c.652T>C (p.Ser218Pro)
c.631T>C (p.Ser211Pro)
10g.79557355A>TCA377352901SFTPA2c.601T>A (p.Ser201Thr)
c.652T>A (p.Ser218Thr)
c.631T>A (p.Ser211Thr)
10g.79557356G>ACA470414524SFTPA2c.600C>T (p.Tyr200=)
c.651C>T (p.Tyr217=)
c.630C>T (p.Tyr210=)
10g.79557356G>CCA377352902SFTPA2c.600C>G (p.Tyr200Ter)
c.651C>G (p.Tyr217Ter)
c.630C>G (p.Tyr210Ter)
COSMIC
10g.79557356G>TCA377352903SFTPA2c.600C>A (p.Tyr200Ter)
c.651C>A (p.Tyr217Ter)
c.630C>A (p.Tyr210Ter)
10g.79557357T>ACA5574002SFTPA2c.599A>T (p.Tyr200Phe)
c.650A>T (p.Tyr217Phe)
c.629A>T (p.Tyr210Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557357T>CCA210248214SFTPA2c.599A>G (p.Tyr200Cys)
c.650A>G (p.Tyr217Cys)
c.629A>G (p.Tyr210Cys)
dbSNP gnomAD v3 gnomAD v4
10g.79557357T>GCA377352904SFTPA2c.599A>C (p.Tyr200Ser)
c.650A>C (p.Tyr217Ser)
c.629A>C (p.Tyr210Ser)
10g.79557357T=CA1922240814SFTPA2c.599A= (p.Tyr200=)
c.650A= (p.Tyr217=)
c.629A= (p.Tyr210=)
10g.79557358A>CCA377352905SFTPA2c.598T>G (p.Tyr200Asp)
c.649T>G (p.Tyr217Asp)
c.628T>G (p.Tyr210Asp)
10g.79557358A>GCA377352906SFTPA2c.598T>C (p.Tyr200His)
c.649T>C (p.Tyr217His)
c.628T>C (p.Tyr210His)
10g.79557358A>TCA377352907SFTPA2c.598T>A (p.Tyr200Asn)
c.649T>A (p.Tyr217Asn)
c.628T>A (p.Tyr210Asn)
10g.79557359G>ACA470414525SFTPA2c.597C>T (p.Arg199=)
c.648C>T (p.Arg216=)
c.627C>T (p.Arg209=)
10g.79557359G>CCA470414526SFTPA2c.597C>G (p.Arg199=)
c.648C>G (p.Arg216=)
c.627C>G (p.Arg209=)
10g.79557359G>TCA470414527SFTPA2c.597C>A (p.Arg199=)
c.648C>A (p.Arg216=)
c.627C>A (p.Arg209=)
10g.79557360C>ACA377352908SFTPA2c.596G>T (p.Arg199Leu)
c.647G>T (p.Arg216Leu)
c.626G>T (p.Arg209Leu)
10g.79557360C=CA1922240821SFTPA2c.596G= (p.Arg199=)
c.647G= (p.Arg216=)
c.626G= (p.Arg209=)
10g.79557360C>GCA377352909SFTPA2c.596G>C (p.Arg199Pro)
c.647G>C (p.Arg216Pro)
c.626G>C (p.Arg209Pro)
10g.79557360C>TCA5574003SFTPA2c.596G>A (p.Arg199His)
c.647G>A (p.Arg216His)
c.626G>A (p.Arg209His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557361G>ACA5574004SFTPA2c.595C>T (p.Arg199Cys)
c.646C>T (p.Arg216Cys)
c.625C>T (p.Arg209Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557361G>CCA377352910SFTPA2c.595C>G (p.Arg199Gly)
c.646C>G (p.Arg216Gly)
c.625C>G (p.Arg209Gly)
10g.79557361G=CA1922240823SFTPA2c.595C= (p.Arg199=)
c.646C= (p.Arg216=)
c.625C= (p.Arg209=)
10g.79557361G>TCA377352911SFTPA2c.595C>A (p.Arg199Ser)
c.646C>A (p.Arg216Ser)
c.625C>A (p.Arg209Ser)
10g.79557362G>ACA470414528SFTPA2c.594C>T (p.Phe198=)
c.645C>T (p.Phe215=)
c.624C>T (p.Phe208=)
dbSNP COSMIC
10g.79557362G>CCA377352912SFTPA2c.594C>G (p.Phe198Leu)
c.645C>G (p.Phe215Leu)
c.624C>G (p.Phe208Leu)
10g.79557362G>TCA377352913SFTPA2c.594C>A (p.Phe198Leu)
c.645C>A (p.Phe215Leu)
c.624C>A (p.Phe208Leu)
10g.79557363A=CA1922240827SFTPA2c.593T= (p.Phe198=)
c.644T= (p.Phe215=)
c.623T= (p.Phe208=)
10g.79557363A>CCA377352914SFTPA2c.593T>G (p.Phe198Cys)
c.644T>G (p.Phe215Cys)
c.623T>G (p.Phe208Cys)
10g.79557363A>GCA256738SFTPA2c.593T>C (p.Phe198Ser)
c.644T>C (p.Phe215Ser)
c.623T>C (p.Phe208Ser)
ClinVar dbSNP
10g.79557363A>TCA377352915SFTPA2c.593T>A (p.Phe198Tyr)
c.644T>A (p.Phe215Tyr)
c.623T>A (p.Phe208Tyr)
10g.79557364A>CCA377352916SFTPA2c.592T>G (p.Phe198Val)
c.643T>G (p.Phe215Val)
c.622T>G (p.Phe208Val)
10g.79557364A>GCA377352918SFTPA2c.592T>C (p.Phe198Leu)
c.643T>C (p.Phe215Leu)
c.622T>C (p.Phe208Leu)
10g.79557364A>TCA377352917SFTPA2c.592T>A (p.Phe198Ile)
c.643T>A (p.Phe215Ile)
c.622T>A (p.Phe208Ile)
10g.79557365G>ACA470414529SFTPA2c.591C>T (p.Asp197=)
c.642C>T (p.Asp214=)
c.621C>T (p.Asp207=)
gnomAD v4
10g.79557365G>CCA377352919SFTPA2c.591C>G (p.Asp197Glu)
c.642C>G (p.Asp214Glu)
c.621C>G (p.Asp207Glu)
10g.79557365G>TCA377352920SFTPA2c.591C>A (p.Asp197Glu)
c.642C>A (p.Asp214Glu)
c.621C>A (p.Asp207Glu)
10g.79557366T>ACA377352921SFTPA2c.590A>T (p.Asp197Val)
c.641A>T (p.Asp214Val)
c.620A>T (p.Asp207Val)
10g.79557366T>CCA5574005SFTPA2c.590A>G (p.Asp197Gly)
c.641A>G (p.Asp214Gly)
c.620A>G (p.Asp207Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557366T>GCA377352922SFTPA2c.590A>C (p.Asp197Ala)
c.641A>C (p.Asp214Ala)
c.620A>C (p.Asp207Ala)
10g.79557366T=CA1922240832SFTPA2c.590A= (p.Asp197=)
c.641A= (p.Asp214=)
c.620A= (p.Asp207=)
10g.79557367C>ACA377352923SFTPA2c.589G>T (p.Asp197Tyr)
c.640G>T (p.Asp214Tyr)
c.619G>T (p.Asp207Tyr)
dbSNP gnomAD v4
10g.79557367C=CA1922240834SFTPA2c.589G= (p.Asp197=)
c.640G= (p.Asp214=)
c.619G= (p.Asp207=)
10g.79557367C>GCA377352924SFTPA2c.589G>C (p.Asp197His)
c.640G>C (p.Asp214His)
c.619G>C (p.Asp207His)
10g.79557367C>TCA377352925SFTPA2c.589G>A (p.Asp197Asn)
c.640G>A (p.Asp214Asn)
c.619G>A (p.Asp207Asn)
10g.79557368T>ACA470414530SFTPA2c.588A>T (p.Gly196=)
c.639A>T (p.Gly213=)
c.618A>T (p.Gly206=)
10g.79557368T>CCA5574006SFTPA2c.588A>G (p.Gly196=)
c.639A>G (p.Gly213=)
c.618A>G (p.Gly206=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557368T>GCA470414531SFTPA2c.588A>C (p.Gly196=)
c.639A>C (p.Gly213=)
c.618A>C (p.Gly206=)
10g.79557368T=CA1922240838SFTPA2c.588A= (p.Gly196=)
c.639A= (p.Gly213=)
c.618A= (p.Gly206=)
10g.79557369C>ACA5574007SFTPA2c.587G>T (p.Gly196Val)
c.638G>T (p.Gly213Val)
c.617G>T (p.Gly206Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557369C=CA1922240842SFTPA2c.587G= (p.Gly196=)
c.638G= (p.Gly213=)
c.617G= (p.Gly206=)
10g.79557369C>GCA377352926SFTPA2c.587G>C (p.Gly196Ala)
c.638G>C (p.Gly213Ala)
c.617G>C (p.Gly206Ala)
10g.79557369C>TCA377352927SFTPA2c.587G>A (p.Gly196Glu)
c.638G>A (p.Gly213Glu)
c.617G>A (p.Gly206Glu)
10g.79557370C>ACA377352929SFTPA2c.586G>T (p.Gly196Ter)
c.637G>T (p.Gly213Ter)
c.616G>T (p.Gly206Ter)
10g.79557370C>GCA377352930SFTPA2c.586G>C (p.Gly196Arg)
c.637G>C (p.Gly213Arg)
c.616G>C (p.Gly206Arg)
10g.79557370C>TCA377352928SFTPA2c.586G>A (p.Gly196Arg)
c.637G>A (p.Gly213Arg)
c.616G>A (p.Gly206Arg)
10g.79557371A>CCA470414532SFTPA2c.585T>G (p.Pro195=)
c.636T>G (p.Pro212=)
c.615T>G (p.Pro205=)
gnomAD v4
10g.79557371A>GCA470414533SFTPA2c.585T>C (p.Pro195=)
c.636T>C (p.Pro212=)
c.615T>C (p.Pro205=)
10g.79557371A>TCA470414534SFTPA2c.585T>A (p.Pro195=)
c.636T>A (p.Pro212=)
c.615T>A (p.Pro205=)
10g.79557372G>ACA377352932SFTPA2c.584C>T (p.Pro195Leu)
c.635C>T (p.Pro212Leu)
c.614C>T (p.Pro205Leu)
10g.79557372G>CCA377352931SFTPA2c.584C>G (p.Pro195Arg)
c.635C>G (p.Pro212Arg)
c.614C>G (p.Pro205Arg)
10g.79557372G>TCA377352933SFTPA2c.584C>A (p.Pro195His)
c.635C>A (p.Pro212His)
c.614C>A (p.Pro205His)
dbSNP
10g.79557373G>ACA210248228SFTPA2c.583C>T (p.Pro195Ser)
c.634C>T (p.Pro212Ser)
c.613C>T (p.Pro205Ser)
dbSNP gnomAD v4 COSMIC
10g.79557373G>CCA377352934SFTPA2c.583C>G (p.Pro195Ala)
c.634C>G (p.Pro212Ala)
c.613C>G (p.Pro205Ala)
10g.79557373G=CA1922240846SFTPA2c.583C= (p.Pro195=)
c.634C= (p.Pro212=)
c.613C= (p.Pro205=)
10g.79557373G>TCA377352935SFTPA2c.583C>A (p.Pro195Thr)
c.634C>A (p.Pro212Thr)
c.613C>A (p.Pro205Thr)
10g.79557374G>ACA470414535SFTPA2c.582C>T (p.Ser194=)
c.633C>T (p.Ser211=)
c.612C>T (p.Ser204=)
10g.79557374G>CCA377352936SFTPA2c.582C>G (p.Ser194Arg)
c.633C>G (p.Ser211Arg)
c.612C>G (p.Ser204Arg)
10g.79557374G>TCA377352937SFTPA2c.582C>A (p.Ser194Arg)
c.633C>A (p.Ser211Arg)
c.612C>A (p.Ser204Arg)
10g.79557375C>ACA377352940SFTPA2c.581G>T (p.Ser194Ile)
c.632G>T (p.Ser211Ile)
c.611G>T (p.Ser204Ile)
10g.79557375C>GCA377352939SFTPA2c.581G>C (p.Ser194Thr)
c.632G>C (p.Ser211Thr)
c.611G>C (p.Ser204Thr)
10g.79557375C>TCA377352938SFTPA2c.581G>A (p.Ser194Asn)
c.632G>A (p.Ser211Asn)
c.611G>A (p.Ser204Asn)
10g.79557376T>ACA377352941SFTPA2c.580A>T (p.Ser194Cys)
c.631A>T (p.Ser211Cys)
c.610A>T (p.Ser204Cys)
10g.79557376T>CCA377352942SFTPA2c.580A>G (p.Ser194Gly)
c.631A>G (p.Ser211Gly)
c.610A>G (p.Ser204Gly)
10g.79557376T>GCA377352943SFTPA2c.580A>C (p.Ser194Arg)
c.631A>C (p.Ser211Arg)
c.610A>C (p.Ser204Arg)
10g.79557377G>ACA470414536SFTPA2c.579C>T (p.Pro193=)
c.630C>T (p.Pro210=)
c.609C>T (p.Pro203=)
10g.79557377G>CCA470414537SFTPA2c.579C>G (p.Pro193=)
c.630C>G (p.Pro210=)
c.609C>G (p.Pro203=)
10g.79557377G>TCA470414538SFTPA2c.579C>A (p.Pro193=)
c.630C>A (p.Pro210=)
c.609C>A (p.Pro203=)
10g.79557378G>ACA377352944SFTPA2c.578C>T (p.Pro193Leu)
c.629C>T (p.Pro210Leu)
c.608C>T (p.Pro203Leu)
COSMIC
10g.79557378G>CCA377352945SFTPA2c.578C>G (p.Pro193Arg)
c.629C>G (p.Pro210Arg)
c.608C>G (p.Pro203Arg)
10g.79557378G>TCA377352946SFTPA2c.578C>A (p.Pro193His)
c.629C>A (p.Pro210His)
c.608C>A (p.Pro203His)
10g.79557379G>ACA377352947SFTPA2c.577C>T (p.Pro193Ser)
c.628C>T (p.Pro210Ser)
c.607C>T (p.Pro203Ser)
gnomAD v4 COSMIC
10g.79557379G>CCA377352949SFTPA2c.577C>G (p.Pro193Ala)
c.628C>G (p.Pro210Ala)
c.607C>G (p.Pro203Ala)
10g.79557379G>TCA377352948SFTPA2c.577C>A (p.Pro193Thr)
c.628C>A (p.Pro210Thr)
c.607C>A (p.Pro203Thr)
10g.79557380A>CCA470414539SFTPA2c.576T>G (p.Gly192=)
c.627T>G (p.Gly209=)
c.606T>G (p.Gly202=)
10g.79557380A>GCA470414540SFTPA2c.576T>C (p.Gly192=)
c.627T>C (p.Gly209=)
c.606T>C (p.Gly202=)
10g.79557380A>TCA470414541SFTPA2c.576T>A (p.Gly192=)
c.627T>A (p.Gly209=)
c.606T>A (p.Gly202=)
10g.79557381C>ACA377352950SFTPA2c.575G>T (p.Gly192Val)
c.626G>T (p.Gly209Val)
c.605G>T (p.Gly202Val)
gnomAD v4
10g.79557381C>GCA377352951SFTPA2c.575G>C (p.Gly192Ala)
c.626G>C (p.Gly209Ala)
c.605G>C (p.Gly202Ala)
10g.79557381C>TCA377352952SFTPA2c.575G>A (p.Gly192Asp)
c.626G>A (p.Gly209Asp)
c.605G>A (p.Gly202Asp)
10g.79557382C>ACA377352953SFTPA2c.574G>T (p.Gly192Cys)
c.625G>T (p.Gly209Cys)
c.604G>T (p.Gly202Cys)
gnomAD v4
10g.79557382C=CA1922240852SFTPA2c.574G= (p.Gly192=)
c.625G= (p.Gly209=)
c.604G= (p.Gly202=)
10g.79557382C>GCA377352954SFTPA2c.574G>C (p.Gly192Arg)
c.625G>C (p.Gly209Arg)
c.604G>C (p.Gly202Arg)
10g.79557382C>TCA377352955SFTPA2c.574G>A (p.Gly192Ser)
c.625G>A (p.Gly209Ser)
c.604G>A (p.Gly202Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.79557383C>ACA377352956SFTPA2c.573G>T (p.Glu191Asp)
c.624G>T (p.Glu208Asp)
c.603G>T (p.Glu201Asp)
10g.79557383C>GCA377352957SFTPA2c.573G>C (p.Glu191Asp)
c.624G>C (p.Glu208Asp)
c.603G>C (p.Glu201Asp)
10g.79557383C>TCA470414542SFTPA2c.573G>A (p.Glu191=)
c.624G>A (p.Glu208=)
c.603G>A (p.Glu201=)
10g.79557384T>ACA377352958SFTPA2c.572A>T (p.Glu191Val)
c.623A>T (p.Glu208Val)
c.602A>T (p.Glu201Val)
10g.79557384T>CCA377352959SFTPA2c.572A>G (p.Glu191Gly)
c.623A>G (p.Glu208Gly)
c.602A>G (p.Glu201Gly)
10g.79557384T>GCA377352960SFTPA2c.572A>C (p.Glu191Ala)
c.623A>C (p.Glu208Ala)
c.602A>C (p.Glu201Ala)
10g.79557385C>ACA377352963SFTPA2c.571G>T (p.Glu191Ter)
c.622G>T (p.Glu208Ter)
c.601G>T (p.Glu201Ter)
10g.79557385C=CA1922240857SFTPA2c.571G= (p.Glu191=)
c.622G= (p.Glu208=)
c.601G= (p.Glu201=)
10g.79557385C>GCA377352962SFTPA2c.571G>C (p.Glu191Gln)
c.622G>C (p.Glu208Gln)
c.601G>C (p.Glu201Gln)
10g.79557385C>TCA377352961SFTPA2c.571G>A (p.Glu191Lys)
c.622G>A (p.Glu208Lys)
c.601G>A (p.Glu201Lys)
gnomAD v4
10g.79557386A>CCA470414543SFTPA2c.570T>G (p.Thr190=)
c.621T>G (p.Thr207=)
c.600T>G (p.Thr200=)
10g.79557386A>GCA470414544SFTPA2c.570T>C (p.Thr190=)
c.621T>C (p.Thr207=)
c.600T>C (p.Thr200=)
COSMIC
10g.79557386A>TCA470414545SFTPA2c.570T>A (p.Thr190=)
c.621T>A (p.Thr207=)
c.600T>A (p.Thr200=)
gnomAD v4
10g.79557386dupCA5574008SFTPA2c.570dup (p.Glu191Ter)
c.621dup (p.Glu208Ter)
c.600dup (p.Glu201Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557387G>ACA377352964SFTPA2c.569C>T (p.Thr190Ile)
c.620C>T (p.Thr207Ile)
c.599C>T (p.Thr200Ile)
10g.79557387G>CCA377352965SFTPA2c.569C>G (p.Thr190Ser)
c.620C>G (p.Thr207Ser)
c.599C>G (p.Thr200Ser)
10g.79557387G>TCA377352966SFTPA2c.569C>A (p.Thr190Asn)
c.620C>A (p.Thr207Asn)
c.599C>A (p.Thr200Asn)
10g.79557388T>ACA377352967SFTPA2c.568A>T (p.Thr190Ser)
c.619A>T (p.Thr207Ser)
c.598A>T (p.Thr200Ser)
10g.79557388T>CCA377352968SFTPA2c.568A>G (p.Thr190Ala)
c.619A>G (p.Thr207Ala)
c.598A>G (p.Thr200Ala)
10g.79557388T>GCA377352969SFTPA2c.568A>C (p.Thr190Pro)
c.619A>C (p.Thr207Pro)
c.598A>C (p.Thr200Pro)
10g.79557389C>ACA470414546SFTPA2c.567G>T (p.Leu189=)
c.618G>T (p.Leu206=)
c.597G>T (p.Leu199=)
gnomAD v4
10g.79557389C=CA1922240861SFTPA2c.567G= (p.Leu189=)
c.618G= (p.Leu206=)
c.597G= (p.Leu199=)
10g.79557389C>GCA470414547SFTPA2c.567G>C (p.Leu189=)
c.618G>C (p.Leu206=)
c.597G>C (p.Leu199=)
10g.79557389C>TCA5574009SFTPA2c.567G>A (p.Leu189=)
c.618G>A (p.Leu206=)
c.597G>A (p.Leu199=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557390A>CCA377352970SFTPA2c.566T>G (p.Leu189Arg)
c.617T>G (p.Leu206Arg)
c.596T>G (p.Leu199Arg)
10g.79557390A>GCA377352971SFTPA2c.566T>C (p.Leu189Pro)
c.617T>C (p.Leu206Pro)
c.596T>C (p.Leu199Pro)
10g.79557390A>TCA377352972SFTPA2c.566T>A (p.Leu189Gln)
c.617T>A (p.Leu206Gln)
c.596T>A (p.Leu199Gln)
10g.79557391G>ACA470414548SFTPA2c.565C>T (p.Leu189=)
c.616C>T (p.Leu206=)
c.595C>T (p.Leu199=)
gnomAD v4
10g.79557391G>CCA377352973SFTPA2c.565C>G (p.Leu189Val)
c.616C>G (p.Leu206Val)
c.595C>G (p.Leu199Val)
10g.79557391G>TCA377352974SFTPA2c.565C>A (p.Leu189Met)
c.616C>A (p.Leu206Met)
c.595C>A (p.Leu199Met)
10g.79557392G>ACA5574010SFTPA2c.564C>T (p.Gly188=)
c.615C>T (p.Gly205=)
c.594C>T (p.Gly198=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557392G>CCA470414549SFTPA2c.564C>G (p.Gly188=)
c.615C>G (p.Gly205=)
c.594C>G (p.Gly198=)
10g.79557392G=CA1922240865SFTPA2c.564C= (p.Gly188=)
c.615C= (p.Gly205=)
c.594C= (p.Gly198=)
10g.79557392G>TCA470414550SFTPA2c.564C>A (p.Gly188=)
c.615C>A (p.Gly205=)
c.594C>A (p.Gly198=)
10g.79557393C>ACA377352975SFTPA2c.563G>T (p.Gly188Val)
c.614G>T (p.Gly205Val)
c.593G>T (p.Gly198Val)
10g.79557393C>GCA377352977SFTPA2c.563G>C (p.Gly188Ala)
c.614G>C (p.Gly205Ala)
c.593G>C (p.Gly198Ala)
10g.79557393C>TCA377352976SFTPA2c.563G>A (p.Gly188Asp)
c.614G>A (p.Gly205Asp)
c.593G>A (p.Gly198Asp)
gnomAD v4
10g.79557394C>ACA377352978SFTPA2c.562G>T (p.Gly188Cys)
c.613G>T (p.Gly205Cys)
c.592G>T (p.Gly198Cys)
10g.79557394C>GCA377352979SFTPA2c.562G>C (p.Gly188Arg)
c.613G>C (p.Gly205Arg)
c.592G>C (p.Gly198Arg)
10g.79557394C>TCA377352980SFTPA2c.562G>A (p.Gly188Ser)
c.613G>A (p.Gly205Ser)
c.592G>A (p.Gly198Ser)
10g.79557395T>ACA470414551SFTPA2c.561A>T (p.Val187=)
c.612A>T (p.Val204=)
c.591A>T (p.Val197=)
dbSNP
10g.79557395T>CCA470414553SFTPA2c.561A>G (p.Val187=)
c.612A>G (p.Val204=)
c.591A>G (p.Val197=)
10g.79557395T>GCA470414552SFTPA2c.561A>C (p.Val187=)
c.612A>C (p.Val204=)
c.591A>C (p.Val197=)
10g.79557395T=CA1922240867SFTPA2c.561A= (p.Val187=)
c.612A= (p.Val204=)
c.591A= (p.Val197=)
10g.79557396A>CCA377352981SFTPA2c.560T>G (p.Val187Gly)
c.611T>G (p.Val204Gly)
c.590T>G (p.Val197Gly)
10g.79557396A>GCA377352982SFTPA2c.560T>C (p.Val187Ala)
c.611T>C (p.Val204Ala)
c.590T>C (p.Val197Ala)
10g.79557396A>TCA377352983SFTPA2c.560T>A (p.Val187Glu)
c.611T>A (p.Val204Glu)
c.590T>A (p.Val197Glu)
10g.79557397C>ACA377352984SFTPA2c.559G>T (p.Val187Leu)
c.610G>T (p.Val204Leu)
c.589G>T (p.Val197Leu)
10g.79557397C=CA1922240870SFTPA2c.559G= (p.Val187=)
c.610G= (p.Val204=)
c.589G= (p.Val197=)
10g.79557397C>GCA377352985SFTPA2c.559G>C (p.Val187Leu)
c.610G>C (p.Val204Leu)
c.589G>C (p.Val197Leu)
10g.79557397C>TCA5574011SFTPA2c.559G>A (p.Val187Ile)
c.610G>A (p.Val204Ile)
c.589G>A (p.Val197Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557398A>CCA377352986SFTPA2c.558T>G (p.Tyr186Ter)
c.609T>G (p.Tyr203Ter)
c.588T>G (p.Tyr196Ter)
10g.79557398A>GCA470414554SFTPA2c.558T>C (p.Tyr186=)
c.609T>C (p.Tyr203=)
c.588T>C (p.Tyr196=)
10g.79557398A>TCA377352987SFTPA2c.558T>A (p.Tyr186Ter)
c.609T>A (p.Tyr203Ter)
c.588T>A (p.Tyr196Ter)
gnomAD v4
10g.79557399T>ACA377352990SFTPA2c.557A>T (p.Tyr186Phe)
c.608A>T (p.Tyr203Phe)
c.587A>T (p.Tyr196Phe)
dbSNP gnomAD v4
10g.79557399T>CCA377352989SFTPA2c.557A>G (p.Tyr186Cys)
c.608A>G (p.Tyr203Cys)
c.587A>G (p.Tyr196Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557399T>GCA377352988SFTPA2c.557A>C (p.Tyr186Ser)
c.608A>C (p.Tyr203Ser)
c.587A>C (p.Tyr196Ser)
10g.79557399T=CA1922240874SFTPA2c.557A= (p.Tyr186=)
c.608A= (p.Tyr203=)
c.587A= (p.Tyr196=)
10g.79557400A>CCA377352991SFTPA2c.556T>G (p.Tyr186Asp)
c.607T>G (p.Tyr203Asp)
c.586T>G (p.Tyr196Asp)
10g.79557400A>GCA377352992SFTPA2c.556T>C (p.Tyr186His)
c.607T>C (p.Tyr203His)
c.586T>C (p.Tyr196His)
10g.79557400A>TCA377352993SFTPA2c.556T>A (p.Tyr186Asn)
c.607T>A (p.Tyr203Asn)
c.586T>A (p.Tyr196Asn)
10g.79557401G>ACA5574012SFTPA2c.555C>T (p.Ala185=)
c.606C>T (p.Ala202=)
c.585C>T (p.Ala195=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557401G>CCA470414566SFTPA2c.555C>G (p.Ala185=)
c.606C>G (p.Ala202=)
c.585C>G (p.Ala195=)
10g.79557401G=CA1922240878SFTPA2c.555C= (p.Ala185=)
c.606C= (p.Ala202=)
c.585C= (p.Ala195=)
10g.79557401G>TCA470414567SFTPA2c.555C>A (p.Ala185=)
c.606C>A (p.Ala202=)
c.585C>A (p.Ala195=)
gnomAD v4
10g.79557402G>ACA377352994SFTPA2c.554C>T (p.Ala185Val)
c.605C>T (p.Ala202Val)
c.584C>T (p.Ala195Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557402G>CCA377352995SFTPA2c.554C>G (p.Ala185Gly)
c.605C>G (p.Ala202Gly)
c.584C>G (p.Ala195Gly)
10g.79557402G=CA1922240881SFTPA2c.554C= (p.Ala185=)
c.605C= (p.Ala202=)
c.584C= (p.Ala195=)
10g.79557402G>TCA377352996SFTPA2c.554C>A (p.Ala185Asp)
c.605C>A (p.Ala202Asp)
c.584C>A (p.Ala195Asp)
10g.79557403C>ACA377352997SFTPA2c.553G>T (p.Ala185Ser)
c.604G>T (p.Ala202Ser)
c.583G>T (p.Ala195Ser)
10g.79557403C>GCA377352998SFTPA2c.553G>C (p.Ala185Pro)
c.604G>C (p.Ala202Pro)
c.583G>C (p.Ala195Pro)
10g.79557403C>TCA377352999SFTPA2c.553G>A (p.Ala185Thr)
c.604G>A (p.Ala202Thr)
c.583G>A (p.Ala195Thr)
gnomAD v4
10g.79557403_79557404delinsCACA1922240884SFTPA2c.552_553delinsTG (p.Tyr184=)
c.603_604delinsTG (p.Tyr201=)
c.582_583delinsTG (p.Tyr194=)
10g.79557404delCA5574013SFTPA2c.552del (p.Tyr184Ter)
c.603del (p.Tyr201Ter)
c.582del (p.Tyr194Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557404A=CA1922240886SFTPA2c.552T= (p.Tyr184=)
c.603T= (p.Tyr201=)
c.582T= (p.Tyr194=)
10g.79557404A>CCA377353000SFTPA2c.552T>G (p.Tyr184Ter)
c.603T>G (p.Tyr201Ter)
c.582T>G (p.Tyr194Ter)
10g.79557404A>GCA5574014SFTPA2c.552T>C (p.Tyr184=)
c.603T>C (p.Tyr201=)
c.582T>C (p.Tyr194=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557404A>TCA377353001SFTPA2c.552T>A (p.Tyr184Ter)
c.603T>A (p.Tyr201Ter)
c.582T>A (p.Tyr194Ter)
10g.79557405T>ACA377353004SFTPA2c.551A>T (p.Tyr184Phe)
c.602A>T (p.Tyr201Phe)
c.581A>T (p.Tyr194Phe)
10g.79557405T>CCA377353003SFTPA2c.551A>G (p.Tyr184Cys)
c.602A>G (p.Tyr201Cys)
c.581A>G (p.Tyr194Cys)
10g.79557405T>GCA377353002SFTPA2c.551A>C (p.Tyr184Ser)
c.602A>C (p.Tyr201Ser)
c.581A>C (p.Tyr194Ser)
10g.79557406A>CCA377353005SFTPA2c.550T>G (p.Tyr184Asp)
c.601T>G (p.Tyr201Asp)
c.580T>G (p.Tyr194Asp)
10g.79557406A>GCA377353006SFTPA2c.550T>C (p.Tyr184His)
c.601T>C (p.Tyr201His)
c.580T>C (p.Tyr194His)
gnomAD v4
10g.79557406A>TCA377353007SFTPA2c.550T>A (p.Tyr184Asn)
c.601T>A (p.Tyr201Asn)
c.580T>A (p.Tyr194Asn)
10g.79557407T>ACA470414568SFTPA2c.549A>T (p.Thr183=)
c.600A>T (p.Thr200=)
c.579A>T (p.Thr193=)
10g.79557407T>CCA470414569SFTPA2c.549A>G (p.Thr183=)
c.600A>G (p.Thr200=)
c.579A>G (p.Thr193=)
10g.79557407T>GCA470414570SFTPA2c.549A>C (p.Thr183=)
c.600A>C (p.Thr200=)
c.579A>C (p.Thr193=)
10g.79557408G>ACA377353008SFTPA2c.548C>T (p.Thr183Ile)
c.599C>T (p.Thr200Ile)
c.578C>T (p.Thr193Ile)
10g.79557408G>CCA377353009SFTPA2c.548C>G (p.Thr183Arg)
c.599C>G (p.Thr200Arg)
c.578C>G (p.Thr193Arg)
gnomAD v4
10g.79557408G>TCA377353010SFTPA2c.548C>A (p.Thr183Lys)
c.599C>A (p.Thr200Lys)
c.578C>A (p.Thr193Lys)
10g.79557409T>ACA377353011SFTPA2c.547A>T (p.Thr183Ser)
c.598A>T (p.Thr200Ser)
c.577A>T (p.Thr193Ser)
10g.79557409T>CCA377353012SFTPA2c.547A>G (p.Thr183Ala)
c.598A>G (p.Thr200Ala)
c.577A>G (p.Thr193Ala)
10g.79557409T>GCA377353013SFTPA2c.547A>C (p.Thr183Pro)
c.598A>C (p.Thr200Pro)
c.577A>C (p.Thr193Pro)
10g.79557410G>ACA470414572SFTPA2c.546C>T (p.Asn182=)
c.597C>T (p.Asn199=)
c.576C>T (p.Asn192=)
10g.79557410G>CCA377353014SFTPA2c.546C>G (p.Asn182Lys)
c.597C>G (p.Asn199Lys)
c.576C>G (p.Asn192Lys)
10g.79557410G>TCA377353015SFTPA2c.546C>A (p.Asn182Lys)
c.597C>A (p.Asn199Lys)
c.576C>A (p.Asn192Lys)
gnomAD v4
10g.79557411T>ACA377353016SFTPA2c.545A>T (p.Asn182Ile)
c.596A>T (p.Asn199Ile)
c.575A>T (p.Asn192Ile)
10g.79557411T>CCA377353017SFTPA2c.545A>G (p.Asn182Ser)
c.596A>G (p.Asn199Ser)
c.575A>G (p.Asn192Ser)
COSMIC
10g.79557411T>GCA377353018SFTPA2c.545A>C (p.Asn182Thr)
c.596A>C (p.Asn199Thr)
c.575A>C (p.Asn192Thr)
10g.79557412T>ACA377353020SFTPA2c.544A>T (p.Asn182Tyr)
c.595A>T (p.Asn199Tyr)
c.574A>T (p.Asn192Tyr)
10g.79557412T>CCA5574015SFTPA2c.544A>G (p.Asn182Asp)
c.595A>G (p.Asn199Asp)
c.574A>G (p.Asn192Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557412T>GCA377353019SFTPA2c.544A>C (p.Asn182His)
c.595A>C (p.Asn199His)
c.574A>C (p.Asn192His)
gnomAD v4
10g.79557412T=CA1922240889SFTPA2c.544A= (p.Asn182=)
c.595A= (p.Asn199=)
c.574A= (p.Asn192=)
10g.79557413G>ACA470414573SFTPA2c.543C>T (p.Tyr181=)
c.594C>T (p.Tyr198=)
c.573C>T (p.Tyr191=)
10g.79557413G>CCA377353021SFTPA2c.543C>G (p.Tyr181Ter)
c.594C>G (p.Tyr198Ter)
c.573C>G (p.Tyr191Ter)
10g.79557413G=CA1922240892SFTPA2c.543C= (p.Tyr181=)
c.594C= (p.Tyr198=)
c.573C= (p.Tyr191=)
10g.79557413G>TCA377353022SFTPA2c.543C>A (p.Tyr181Ter)
c.594C>A (p.Tyr198Ter)
c.573C>A (p.Tyr191Ter)
dbSNP gnomAD v2 gnomAD v4
10g.79557414T>ACA377353023SFTPA2c.542A>T (p.Tyr181Phe)
c.593A>T (p.Tyr198Phe)
c.572A>T (p.Tyr191Phe)
10g.79557414T>CCA210248291SFTPA2c.542A>G (p.Tyr181Cys)
c.593A>G (p.Tyr198Cys)
c.572A>G (p.Tyr191Cys)
dbSNP gnomAD v2 gnomAD v4
10g.79557414T>GCA377353024SFTPA2c.542A>C (p.Tyr181Ser)
c.593A>C (p.Tyr198Ser)
c.572A>C (p.Tyr191Ser)
gnomAD v4
10g.79557414T=CA1922240894SFTPA2c.542A= (p.Tyr181=)
c.593A= (p.Tyr198=)
c.572A= (p.Tyr191=)
10g.79557415A>CCA377353025SFTPA2c.541T>G (p.Tyr181Asp)
c.592T>G (p.Tyr198Asp)
c.571T>G (p.Tyr191Asp)
10g.79557415A>GCA377353026SFTPA2c.541T>C (p.Tyr181His)
c.592T>C (p.Tyr198His)
c.571T>C (p.Tyr191His)
10g.79557415A>TCA377353027SFTPA2c.541T>A (p.Tyr181Asn)
c.592T>A (p.Tyr198Asn)
c.571T>A (p.Tyr191Asn)
10g.79557415_79557418delinsACTTCA1922240896SFTPA2c.538_541delinsAAGT (p.Lys180=)
c.589_592delinsAAGT (p.Lys197=)
c.568_571delinsAAGT (p.Lys190=)
10g.79557416C>ACA377353028SFTPA2c.540G>T (p.Lys180Asn)
c.591G>T (p.Lys197Asn)
c.570G>T (p.Lys190Asn)
10g.79557416C=CA1922240900SFTPA2c.540G= (p.Lys180=)
c.591G= (p.Lys197=)
c.570G= (p.Lys190=)
10g.79557416C>GCA377353029SFTPA2c.540G>C (p.Lys180Asn)
c.591G>C (p.Lys197Asn)
c.570G>C (p.Lys190Asn)
10g.79557416C>TCA470414574SFTPA2c.540G>A (p.Lys180=)
c.591G>A (p.Lys197=)
c.570G>A (p.Lys190=)
dbSNP gnomAD v4
10g.79557420_79557422delCA1922240899SFTPA2c.538_540del (p.Lys180del)
c.589_591del (p.Lys197del)
c.568_570del (p.Lys190del)
dbSNP
10g.79557417T>ACA377353030SFTPA2c.539A>T (p.Lys180Met)
c.590A>T (p.Lys197Met)
c.569A>T (p.Lys190Met)
10g.79557417T>CCA210248293SFTPA2c.539A>G (p.Lys180Arg)
c.590A>G (p.Lys197Arg)
c.569A>G (p.Lys190Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557417T>GCA377353031SFTPA2c.539A>C (p.Lys180Thr)
c.590A>C (p.Lys197Thr)
c.569A>C (p.Lys190Thr)
gnomAD v4
10g.79557417T=CA1922240905SFTPA2c.539A= (p.Lys180=)
c.590A= (p.Lys197=)
c.569A= (p.Lys190=)
10g.79557418T>ACA377353034SFTPA2c.538A>T (p.Lys180Ter)
c.589A>T (p.Lys197Ter)
c.568A>T (p.Lys190Ter)
10g.79557418T>CCA377353032SFTPA2c.538A>G (p.Lys180Glu)
c.589A>G (p.Lys197Glu)
c.568A>G (p.Lys190Glu)
dbSNP gnomAD v2 gnomAD v4
10g.79557418T>GCA377353033SFTPA2c.538A>C (p.Lys180Gln)
c.589A>C (p.Lys197Gln)
c.568A>C (p.Lys190Gln)
10g.79557418T=CA1922240909SFTPA2c.538A= (p.Lys180=)
c.589A= (p.Lys197=)
c.568A= (p.Lys190=)
10g.79557419C>ACA377353035SFTPA2c.537G>T (p.Lys179Asn)
c.588G>T (p.Lys196Asn)
c.567G>T (p.Lys189Asn)
10g.79557419C>GCA377353036SFTPA2c.537G>C (p.Lys179Asn)
c.588G>C (p.Lys196Asn)
c.567G>C (p.Lys189Asn)
10g.79557419C>TCA470414575SFTPA2c.537G>A (p.Lys179=)
c.588G>A (p.Lys196=)
c.567G>A (p.Lys189=)
10g.79557420T>ACA377353037SFTPA2c.536A>T (p.Lys179Met)
c.587A>T (p.Lys196Met)
c.566A>T (p.Lys189Met)
10g.79557420T>CCA5574016SFTPA2c.536A>G (p.Lys179Arg)
c.587A>G (p.Lys196Arg)
c.566A>G (p.Lys189Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557420T>GCA377353038SFTPA2c.536A>C (p.Lys179Thr)
c.587A>C (p.Lys196Thr)
c.566A>C (p.Lys189Thr)
10g.79557420T=CA1922240912SFTPA2c.536A= (p.Lys179=)
c.587A= (p.Lys196=)
c.566A= (p.Lys189=)
10g.79557421T>ACA377353039SFTPA2c.535A>T (p.Lys179Ter)
c.586A>T (p.Lys196Ter)
c.565A>T (p.Lys189Ter)
10g.79557421T>CCA377353040SFTPA2c.535A>G (p.Lys179Glu)
c.586A>G (p.Lys196Glu)
c.565A>G (p.Lys189Glu)
10g.79557421T>GCA377353041SFTPA2c.535A>C (p.Lys179Gln)
c.586A>C (p.Lys196Gln)
c.565A>C (p.Lys189Gln)
10g.79557422C>ACA470414576SFTPA2c.534G>T (p.Val178=)
c.585G>T (p.Val195=)
c.564G>T (p.Val188=)
10g.79557422C>GCA470414577SFTPA2c.534G>C (p.Val178=)
c.585G>C (p.Val195=)
c.564G>C (p.Val188=)
10g.79557422C>TCA470414578SFTPA2c.534G>A (p.Val178=)
c.585G>A (p.Val195=)
c.564G>A (p.Val188=)
10g.79557423A>CCA377353042SFTPA2c.533T>G (p.Val178Gly)
c.584T>G (p.Val195Gly)
c.563T>G (p.Val188Gly)
10g.79557423A>GCA377353043SFTPA2c.533T>C (p.Val178Ala)
c.584T>C (p.Val195Ala)
c.563T>C (p.Val188Ala)
10g.79557423A>TCA377353044SFTPA2c.533T>A (p.Val178Glu)
c.584T>A (p.Val195Glu)
c.563T>A (p.Val188Glu)
10g.79557424C>ACA5574017SFTPA2c.532G>T (p.Val178Leu)
c.583G>T (p.Val195Leu)
c.562G>T (p.Val188Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557424C=CA1922240922SFTPA2c.532G= (p.Val178=)
c.583G= (p.Val195=)
c.562G= (p.Val188=)
10g.79557424C>GCA377353045SFTPA2c.532G>C (p.Val178Leu)
c.583G>C (p.Val195Leu)
c.562G>C (p.Val188Leu)
gnomAD v4
10g.79557424C>TCA5574018SFTPA2c.532G>A (p.Val178Met)
c.583G>A (p.Val195Met)
c.562G>A (p.Val188Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557425G>ACA5574019SFTPA2c.531C>T (p.Phe177=)
c.582C>T (p.Phe194=)
c.561C>T (p.Phe187=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557425G>CCA377353047SFTPA2c.531C>G (p.Phe177Leu)
c.582C>G (p.Phe194Leu)
c.561C>G (p.Phe187Leu)
gnomAD v4
10g.79557425G=CA1922240929SFTPA2c.531C= (p.Phe177=)
c.582C= (p.Phe194=)
c.561C= (p.Phe187=)
10g.79557425G>TCA377353046SFTPA2c.531C>A (p.Phe177Leu)
c.582C>A (p.Phe194Leu)
c.561C>A (p.Phe187Leu)
gnomAD v4
10g.79557426A=CA1922240935SFTPA2c.530T= (p.Phe177=)
c.581T= (p.Phe194=)
c.560T= (p.Phe187=)
10g.79557426A>CCA210248320SFTPA2c.530T>G (p.Phe177Cys)
c.581T>G (p.Phe194Cys)
c.560T>G (p.Phe187Cys)
dbSNP
10g.79557426A>GCA5574021SFTPA2c.530T>C (p.Phe177Ser)
c.581T>C (p.Phe194Ser)
c.560T>C (p.Phe187Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557426A>TCA5574020SFTPA2c.530T>A (p.Phe177Tyr)
c.581T>A (p.Phe194Tyr)
c.560T>A (p.Phe187Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557427A>CCA377353048SFTPA2c.529T>G (p.Phe177Val)
c.580T>G (p.Phe194Val)
c.559T>G (p.Phe187Val)
10g.79557427A>GCA377353050SFTPA2c.529T>C (p.Phe177Leu)
c.580T>C (p.Phe194Leu)
c.559T>C (p.Phe187Leu)
10g.79557427A>TCA377353049SFTPA2c.529T>A (p.Phe177Ile)
c.580T>A (p.Phe194Ile)
c.559T>A (p.Phe187Ile)
10g.79557428G>ACA470414579SFTPA2c.528C>T (p.Ser176=)
c.579C>T (p.Ser193=)
c.558C>T (p.Ser186=)
10g.79557428G>CCA377353051SFTPA2c.528C>G (p.Ser176Arg)
c.579C>G (p.Ser193Arg)
c.558C>G (p.Ser186Arg)
10g.79557428G>TCA377353052SFTPA2c.528C>A (p.Ser176Arg)
c.579C>A (p.Ser193Arg)
c.558C>A (p.Ser186Arg)
10g.79557429C>ACA377353053SFTPA2c.527G>T (p.Ser176Ile)
c.578G>T (p.Ser193Ile)
c.557G>T (p.Ser186Ile)
10g.79557429C=CA1922240940SFTPA2c.527G= (p.Ser176=)
c.578G= (p.Ser193=)
c.557G= (p.Ser186=)
10g.79557429C>GCA377353054SFTPA2c.527G>C (p.Ser176Thr)
c.578G>C (p.Ser193Thr)
c.557G>C (p.Ser186Thr)
10g.79557429C>TCA377353055SFTPA2c.527G>A (p.Ser176Asn)
c.578G>A (p.Ser193Asn)
c.557G>A (p.Ser186Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557430T>ACA377353056SFTPA2c.526A>T (p.Ser176Cys)
c.577A>T (p.Ser193Cys)
c.556A>T (p.Ser186Cys)
10g.79557430T>CCA377353057SFTPA2c.526A>G (p.Ser176Gly)
c.577A>G (p.Ser193Gly)
c.556A>G (p.Ser186Gly)
10g.79557430T>GCA377353058SFTPA2c.526A>C (p.Ser176Arg)
c.577A>C (p.Ser193Arg)
c.556A>C (p.Ser186Arg)
10g.79557431T>ACA470414580SFTPA2c.525A>T (p.Ala175=)
c.576A>T (p.Ala192=)
c.555A>T (p.Ala185=)
gnomAD v4
10g.79557431T>CCA470414581SFTPA2c.525A>G (p.Ala175=)
c.576A>G (p.Ala192=)
c.555A>G (p.Ala185=)
10g.79557431T>GCA470414582SFTPA2c.525A>C (p.Ala175=)
c.576A>C (p.Ala192=)
c.555A>C (p.Ala185=)
10g.79557432G>ACA377353059SFTPA2c.524C>T (p.Ala175Val)
c.575C>T (p.Ala192Val)
c.554C>T (p.Ala185Val)
10g.79557432G>CCA377353061SFTPA2c.524C>G (p.Ala175Gly)
c.575C>G (p.Ala192Gly)
c.554C>G (p.Ala185Gly)
10g.79557432G=CA1922240944SFTPA2c.524C= (p.Ala175=)
c.575C= (p.Ala192=)
c.554C= (p.Ala185=)
10g.79557432G>TCA377353060SFTPA2c.524C>A (p.Ala175Glu)
c.575C>A (p.Ala192Glu)
c.554C>A (p.Ala185Glu)
dbSNP gnomAD v2 gnomAD v4
10g.79557433C>ACA377353062SFTPA2c.523G>T (p.Ala175Ser)
c.574G>T (p.Ala192Ser)
c.553G>T (p.Ala185Ser)
10g.79557433C>GCA377353063SFTPA2c.523G>C (p.Ala175Pro)
c.574G>C (p.Ala192Pro)
c.553G>C (p.Ala185Pro)
10g.79557433C>TCA377353064SFTPA2c.523G>A (p.Ala175Thr)
c.574G>A (p.Ala192Thr)
c.553G>A (p.Ala185Thr)
10g.79557434A=CA1922240946SFTPA2c.522T= (p.Ile174=)
c.573T= (p.Ile191=)
c.552T= (p.Ile184=)
10g.79557434A>CCA5574022SFTPA2c.522T>G (p.Ile174Met)
c.573T>G (p.Ile191Met)
c.552T>G (p.Ile184Met)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557434A>GCA470414583SFTPA2c.522T>C (p.Ile174=)
c.573T>C (p.Ile191=)
c.552T>C (p.Ile184=)
10g.79557434A>TCA470414584SFTPA2c.522T>A (p.Ile174=)
c.573T>A (p.Ile191=)
c.552T>A (p.Ile184=)
10g.79557435A>CCA377353065SFTPA2c.521T>G (p.Ile174Ser)
c.572T>G (p.Ile191Ser)
c.551T>G (p.Ile184Ser)
10g.79557435A>GCA377353067SFTPA2c.521T>C (p.Ile174Thr)
c.572T>C (p.Ile191Thr)
c.551T>C (p.Ile184Thr)
gnomAD v4
10g.79557435A>TCA377353066SFTPA2c.521T>A (p.Ile174Asn)
c.572T>A (p.Ile191Asn)
c.551T>A (p.Ile184Asn)
10g.79557436T>ACA377353068SFTPA2c.520A>T (p.Ile174Phe)
c.571A>T (p.Ile191Phe)
c.550A>T (p.Ile184Phe)
gnomAD v4
10g.79557436T>CCA377353069SFTPA2c.520A>G (p.Ile174Val)
c.571A>G (p.Ile191Val)
c.550A>G (p.Ile184Val)
dbSNP gnomAD v4
10g.79557436T>GCA377353070SFTPA2c.520A>C (p.Ile174Leu)
c.571A>C (p.Ile191Leu)
c.550A>C (p.Ile184Leu)
dbSNP
10g.79557436T=CA1922240952SFTPA2c.520A= (p.Ile174=)
c.571A= (p.Ile191=)
c.550A= (p.Ile184=)
10g.79557437G>ACA470414585SFTPA2c.519C>T (p.Ala173=)
c.570C>T (p.Ala190=)
c.549C>T (p.Ala183=)
10g.79557437G>CCA470414587SFTPA2c.519C>G (p.Ala173=)
c.570C>G (p.Ala190=)
c.549C>G (p.Ala183=)
10g.79557437G>TCA470414586SFTPA2c.519C>A (p.Ala173=)
c.570C>A (p.Ala190=)
c.549C>A (p.Ala183=)
10g.79557438G>ACA5574023SFTPA2c.518C>T (p.Ala173Val)
c.569C>T (p.Ala190Val)
c.548C>T (p.Ala183Val)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557438G>CCA377353071SFTPA2c.518C>G (p.Ala173Gly)
c.569C>G (p.Ala190Gly)
c.548C>G (p.Ala183Gly)
10g.79557438G=CA1922240958SFTPA2c.518C= (p.Ala173=)
c.569C= (p.Ala190=)
c.548C= (p.Ala183=)
10g.79557438G>TCA377353072SFTPA2c.518C>A (p.Ala173Asp)
c.569C>A (p.Ala190Asp)
c.548C>A (p.Ala183Asp)
dbSNP gnomAD v2 gnomAD v4
10g.79557439C>ACA377353073SFTPA2c.517G>T (p.Ala173Ser)
c.568G>T (p.Ala190Ser)
c.547G>T (p.Ala183Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.79557439C=CA1922240963SFTPA2c.517G= (p.Ala173=)
c.568G= (p.Ala190=)
c.547G= (p.Ala183=)
10g.79557439C>GCA377353074SFTPA2c.517G>C (p.Ala173Pro)
c.568G>C (p.Ala190Pro)
c.547G>C (p.Ala183Pro)
10g.79557439C>TCA377353075SFTPA2c.517G>A (p.Ala173Thr)
c.568G>A (p.Ala190Thr)
c.547G>A (p.Ala183Thr)
gnomAD v4
10g.79557440C>ACA377353076SFTPA2c.516G>T (p.Glu172Asp)
c.567G>T (p.Glu189Asp)
c.546G>T (p.Glu182Asp)
10g.79557440C=CA1922240965SFTPA2c.516G= (p.Glu172=)
c.567G= (p.Glu189=)
c.546G= (p.Glu182=)
10g.79557440C>GCA377353077SFTPA2c.516G>C (p.Glu172Asp)
c.567G>C (p.Glu189Asp)
c.546G>C (p.Glu182Asp)
ClinVar
10g.79557440C>TCA470414588SFTPA2c.516G>A (p.Glu172=)
c.567G>A (p.Glu189=)
c.546G>A (p.Glu182=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557441T>ACA377353078SFTPA2c.515A>T (p.Glu172Val)
c.566A>T (p.Glu189Val)
c.545A>T (p.Glu182Val)
10g.79557441T>CCA377353080SFTPA2c.515A>G (p.Glu172Gly)
c.566A>G (p.Glu189Gly)
c.545A>G (p.Glu182Gly)
dbSNP
10g.79557441T>GCA377353079SFTPA2c.515A>C (p.Glu172Ala)
c.566A>C (p.Glu189Ala)
c.545A>C (p.Glu182Ala)
10g.79557441T=CA1922240967SFTPA2c.515A= (p.Glu172=)
c.566A= (p.Glu189=)
c.545A= (p.Glu182=)
10g.79557442C>ACA377353081SFTPA2c.514G>T (p.Glu172Ter)
c.565G>T (p.Glu189Ter)
c.544G>T (p.Glu182Ter)
10g.79557442C>GCA377353082SFTPA2c.514G>C (p.Glu172Gln)
c.565G>C (p.Glu189Gln)
c.544G>C (p.Glu182Gln)
10g.79557442C>TCA377353083SFTPA2c.514G>A (p.Glu172Lys)
c.565G>A (p.Glu189Lys)
c.544G>A (p.Glu182Lys)
10g.79557443A>CCA377353084SFTPA2c.513T>G (p.Asn171Lys)
c.564T>G (p.Asn188Lys)
c.543T>G (p.Asn181Lys)
10g.79557443A>GCA470414589SFTPA2c.513T>C (p.Asn171=)
c.564T>C (p.Asn188=)
c.543T>C (p.Asn181=)
10g.79557443A>TCA377353085SFTPA2c.513T>A (p.Asn171Lys)
c.564T>A (p.Asn188Lys)
c.543T>A (p.Asn181Lys)
10g.79557444T>ACA377353086SFTPA2c.512A>T (p.Asn171Ile)
c.563A>T (p.Asn188Ile)
c.542A>T (p.Asn181Ile)
ClinVar dbSNP
10g.79557444T>CCA377353087SFTPA2c.512A>G (p.Asn171Ser)
c.563A>G (p.Asn188Ser)
c.542A>G (p.Asn181Ser)
10g.79557444T>GCA377353088SFTPA2c.512A>C (p.Asn171Thr)
c.563A>C (p.Asn188Thr)
c.542A>C (p.Asn181Thr)
10g.79557445T>ACA377353089SFTPA2c.511A>T (p.Asn171Tyr)
c.562A>T (p.Asn188Tyr)
c.541A>T (p.Asn181Tyr)
10g.79557445T>CCA377353090SFTPA2c.511A>G (p.Asn171Asp)
c.562A>G (p.Asn188Asp)
c.541A>G (p.Asn181Asp)
10g.79557445T>GCA377353091SFTPA2c.511A>C (p.Asn171His)
c.562A>C (p.Asn188His)
c.541A>C (p.Asn181His)
10g.79557446T>ACA377353092SFTPA2c.510A>T (p.Glu170Asp)
c.561A>T (p.Glu187Asp)
c.540A>T (p.Glu180Asp)
10g.79557446T>CCA470414590SFTPA2c.510A>G (p.Glu170=)
c.561A>G (p.Glu187=)
c.540A>G (p.Glu180=)
10g.79557446T>GCA377353093SFTPA2c.510A>C (p.Glu170Asp)
c.561A>C (p.Glu187Asp)
c.540A>C (p.Glu180Asp)
10g.79557447T>ACA377353094SFTPA2c.509A>T (p.Glu170Val)
c.560A>T (p.Glu187Val)
c.539A>T (p.Glu180Val)
10g.79557447T>CCA377353096SFTPA2c.509A>G (p.Glu170Gly)
c.560A>G (p.Glu187Gly)
c.539A>G (p.Glu180Gly)
10g.79557447T>GCA377353095SFTPA2c.509A>C (p.Glu170Ala)
c.560A>C (p.Glu187Ala)
c.539A>C (p.Glu180Ala)
10g.79557448C>ACA377353097SFTPA2c.508G>T (p.Glu170Ter)
c.559G>T (p.Glu187Ter)
c.538G>T (p.Glu180Ter)
10g.79557448C=CA1922240968SFTPA2c.508G= (p.Glu170=)
c.559G= (p.Glu187=)
c.538G= (p.Glu180=)
10g.79557448C>GCA377353098SFTPA2c.508G>C (p.Glu170Gln)
c.559G>C (p.Glu187Gln)
c.538G>C (p.Glu180Gln)
10g.79557448C>TCA5574024SFTPA2c.508G>A (p.Glu170Lys)
c.559G>A (p.Glu187Lys)
c.538G>A (p.Glu180Lys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched