Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
10g.79557449C>ACA377353099SFTPA2c.507G>T (p.Glu169Asp)
c.558G>T (p.Glu186Asp)
c.537G>T (p.Glu179Asp)
10g.79557449C=CA1922240969SFTPA2c.507G= (p.Glu169=)
c.558G= (p.Glu186=)
c.537G= (p.Glu179=)
10g.79557449C>GCA377353100SFTPA2c.507G>C (p.Glu169Asp)
c.558G>C (p.Glu186Asp)
c.537G>C (p.Glu179Asp)
10g.79557449C>TCA5574025SFTPA2c.507G>A (p.Glu169=)
c.558G>A (p.Glu186=)
c.537G>A (p.Glu179=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557450T>ACA377353101SFTPA2c.506A>T (p.Glu169Val)
c.557A>T (p.Glu186Val)
c.536A>T (p.Glu179Val)
10g.79557450T>CCA377353102SFTPA2c.506A>G (p.Glu169Gly)
c.557A>G (p.Glu186Gly)
c.536A>G (p.Glu179Gly)
10g.79557450T>GCA377353103SFTPA2c.506A>C (p.Glu169Ala)
c.557A>C (p.Glu186Ala)
c.536A>C (p.Glu179Ala)
10g.79557451C>ACA377353106SFTPA2c.505G>T (p.Glu169Ter)
c.556G>T (p.Glu186Ter)
c.535G>T (p.Glu179Ter)
10g.79557451C=CA1922240971SFTPA2c.505G= (p.Glu169=)
c.556G= (p.Glu186=)
c.535G= (p.Glu179=)
10g.79557451C>GCA377353105SFTPA2c.505G>C (p.Glu169Gln)
c.556G>C (p.Glu186Gln)
c.535G>C (p.Glu179Gln)
 gnomAD v4
10g.79557451C>TCA377353104SFTPA2c.505G>A (p.Glu169Lys)
c.556G>A (p.Glu186Lys)
c.535G>A (p.Glu179Lys)
 dbSNP
10g.79557452T>ACA470414591SFTPA2c.504A>T (p.Pro168=)
c.555A>T (p.Pro185=)
c.534A>T (p.Pro178=)
10g.79557452T>CCA470414592SFTPA2c.504A>G (p.Pro168=)
c.555A>G (p.Pro185=)
c.534A>G (p.Pro178=)
 gnomAD v4
10g.79557452T>GCA470414593SFTPA2c.504A>C (p.Pro168=)
c.555A>C (p.Pro185=)
c.534A>C (p.Pro178=)
10g.79557453G>ACA5574026SFTPA2c.503C>T (p.Pro168Leu)
c.554C>T (p.Pro185Leu)
c.533C>T (p.Pro178Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557453G>CCA377353108SFTPA2c.503C>G (p.Pro168Arg)
c.554C>G (p.Pro185Arg)
c.533C>G (p.Pro178Arg)
10g.79557453G=CA1922240974SFTPA2c.503C= (p.Pro168=)
c.554C= (p.Pro185=)
c.533C= (p.Pro178=)
10g.79557453G>TCA377353107SFTPA2c.503C>A (p.Pro168Gln)
c.554C>A (p.Pro185Gln)
c.533C>A (p.Pro178Gln)
10g.79557454G>ACA377353109SFTPA2c.502C>T (p.Pro168Ser)
c.553C>T (p.Pro185Ser)
c.532C>T (p.Pro178Ser)
10g.79557454G>CCA377353110SFTPA2c.502C>G (p.Pro168Ala)
c.553C>G (p.Pro185Ala)
c.532C>G (p.Pro178Ala)
10g.79557454G>TCA377353111SFTPA2c.502C>A (p.Pro168Thr)
c.553C>A (p.Pro185Thr)
c.532C>A (p.Pro178Thr)
 gnomAD v4
10g.79557455A=CA1922240978SFTPA2c.501T= (p.Asn167=)
c.552T= (p.Asn184=)
c.531T= (p.Asn177=)
10g.79557455A>CCA377353112SFTPA2c.501T>G (p.Asn167Lys)
c.552T>G (p.Asn184Lys)
c.531T>G (p.Asn177Lys)
10g.79557455A>GCA470414594SFTPA2c.501T>C (p.Asn167=)
c.552T>C (p.Asn184=)
c.531T>C (p.Asn177=)
10g.79557455A>TCA377353113SFTPA2c.501T>A (p.Asn167Lys)
c.552T>A (p.Asn184Lys)
c.531T>A (p.Asn177Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.79557456T>ACA377353114SFTPA2c.500A>T (p.Asn167Ile)
c.551A>T (p.Asn184Ile)
c.530A>T (p.Asn177Ile)
10g.79557456T>CCA377353115SFTPA2c.500A>G (p.Asn167Ser)
c.551A>G (p.Asn184Ser)
c.530A>G (p.Asn177Ser)
10g.79557456T>GCA377353116SFTPA2c.500A>C (p.Asn167Thr)
c.551A>C (p.Asn184Thr)
c.530A>C (p.Asn177Thr)
10g.79557457T>ACA377353117SFTPA2c.499A>T (p.Asn167Tyr)
c.550A>T (p.Asn184Tyr)
c.529A>T (p.Asn177Tyr)
10g.79557457T>CCA377353118SFTPA2c.499A>G (p.Asn167Asp)
c.550A>G (p.Asn184Asp)
c.529A>G (p.Asn177Asp)
10g.79557457T>GCA377353119SFTPA2c.499A>C (p.Asn167His)
c.550A>C (p.Asn184His)
c.529A>C (p.Asn177His)
10g.79557458C>ACA377353121SFTPA2c.498G>T (p.Arg166Ser)
c.549G>T (p.Arg183Ser)
c.528G>T (p.Arg176Ser)
10g.79557458C=CA1922240982SFTPA2c.498G= (p.Arg166=)
c.549G= (p.Arg183=)
c.528G= (p.Arg176=)
10g.79557458C>GCA377353120SFTPA2c.498G>C (p.Arg166Ser)
c.549G>C (p.Arg183Ser)
c.528G>C (p.Arg176Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557458C>TCA470414595SFTPA2c.498G>A (p.Arg166=)
c.549G>A (p.Arg183=)
c.528G>A (p.Arg176=)
10g.79557459C>ACA377353122SFTPA2c.497G>T (p.Arg166Met)
c.548G>T (p.Arg183Met)
c.527G>T (p.Arg176Met)
10g.79557459C>GCA377353123SFTPA2c.497G>C (p.Arg166Thr)
c.548G>C (p.Arg183Thr)
c.527G>C (p.Arg176Thr)
10g.79557459C>TCA377353124SFTPA2c.497G>A (p.Arg166Lys)
c.548G>A (p.Arg183Lys)
c.527G>A (p.Arg176Lys)
10g.79557460T>ACA377353125SFTPA2c.496A>T (p.Arg166Trp)
c.547A>T (p.Arg183Trp)
c.526A>T (p.Arg176Trp)
10g.79557460T>CCA377353126SFTPA2c.496A>G (p.Arg166Gly)
c.547A>G (p.Arg183Gly)
c.526A>G (p.Arg176Gly)
10g.79557460T>GCA470414596SFTPA2c.496A>C (p.Arg166=)
c.547A>C (p.Arg183=)
c.526A>C (p.Arg176=)
10g.79557461T>ACA470414597SFTPA2c.495A>T (p.Pro165=)
c.546A>T (p.Pro182=)
c.525A>T (p.Pro175=)
10g.79557461T>CCA470414598SFTPA2c.495A>G (p.Pro165=)
c.546A>G (p.Pro182=)
c.525A>G (p.Pro175=)
 dbSNP gnomAD v3 gnomAD v4
10g.79557461T>GCA470414599SFTPA2c.495A>C (p.Pro165=)
c.546A>C (p.Pro182=)
c.525A>C (p.Pro175=)
10g.79557461T=CA1922240986SFTPA2c.495A= (p.Pro165=)
c.546A= (p.Pro182=)
c.525A= (p.Pro175=)
10g.79557462G>ACA377353127SFTPA2c.494C>T (p.Pro165Leu)
c.545C>T (p.Pro182Leu)
c.524C>T (p.Pro175Leu)
10g.79557462G>CCA377353128SFTPA2c.494C>G (p.Pro165Arg)
c.545C>G (p.Pro182Arg)
c.524C>G (p.Pro175Arg)
 dbSNP gnomAD v2
10g.79557462G=CA1922240988SFTPA2c.494C= (p.Pro165=)
c.545C= (p.Pro182=)
c.524C= (p.Pro175=)
10g.79557462G>TCA377353129SFTPA2c.494C>A (p.Pro165Gln)
c.545C>A (p.Pro182Gln)
c.524C>A (p.Pro175Gln)
10g.79557463G>ACA377353130SFTPA2c.493C>T (p.Pro165Ser)
c.544C>T (p.Pro182Ser)
c.523C>T (p.Pro175Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.79557463G>CCA377353131SFTPA2c.493C>G (p.Pro165Ala)
c.544C>G (p.Pro182Ala)
c.523C>G (p.Pro175Ala)
10g.79557463G=CA1922240989SFTPA2c.493C= (p.Pro165=)
c.544C= (p.Pro182=)
c.523C= (p.Pro175=)
10g.79557463G>TCA377353132SFTPA2c.493C>A (p.Pro165Thr)
c.544C>A (p.Pro182Thr)
c.523C>A (p.Pro175Thr)
10g.79557464G>ACA470414600SFTPA2c.492C>T (p.Val164=)
c.543C>T (p.Val181=)
c.522C>T (p.Val174=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557464G>CCA470414601SFTPA2c.492C>G (p.Val164=)
c.543C>G (p.Val181=)
c.522C>G (p.Val174=)
10g.79557464G=CA1922240993SFTPA2c.492C= (p.Val164=)
c.543C= (p.Val181=)
c.522C= (p.Val174=)
10g.79557464G>TCA210248338SFTPA2c.492C>A (p.Val164=)
c.543C>A (p.Val181=)
c.522C>A (p.Val174=)
 dbSNP
10g.79557465A>CCA377353134SFTPA2c.491T>G (p.Val164Gly)
c.542T>G (p.Val181Gly)
c.521T>G (p.Val174Gly)
10g.79557465A>GCA377353135SFTPA2c.491T>C (p.Val164Ala)
c.542T>C (p.Val181Ala)
c.521T>C (p.Val174Ala)
10g.79557465A>TCA377353133SFTPA2c.491T>A (p.Val164Asp)
c.542T>A (p.Val181Asp)
c.521T>A (p.Val174Asp)
10g.79557466C>ACA377353136SFTPA2c.490G>T (p.Val164Phe)
c.541G>T (p.Val181Phe)
c.520G>T (p.Val174Phe)
10g.79557466C>GCA377353137SFTPA2c.490G>C (p.Val164Leu)
c.541G>C (p.Val181Leu)
c.520G>C (p.Val174Leu)
10g.79557466C>TCA377353138SFTPA2c.490G>A (p.Val164Ile)
c.541G>A (p.Val181Ile)
c.520G>A (p.Val174Ile)
10g.79557467A=CA1922240996SFTPA2c.489T= (p.Ala163=)
c.540T= (p.Ala180=)
c.519T= (p.Ala173=)
10g.79557467A>CCA470414602SFTPA2c.489T>G (p.Ala163=)
c.540T>G (p.Ala180=)
c.519T>G (p.Ala173=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557467A>GCA470414603SFTPA2c.489T>C (p.Ala163=)
c.540T>C (p.Ala180=)
c.519T>C (p.Ala173=)
10g.79557467A>TCA470414604SFTPA2c.489T>A (p.Ala163=)
c.540T>A (p.Ala180=)
c.519T>A (p.Ala173=)
10g.79557468G>ACA5574027SFTPA2c.488C>T (p.Ala163Val)
c.539C>T (p.Ala180Val)
c.518C>T (p.Ala173Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557468G>CCA377353139SFTPA2c.488C>G (p.Ala163Gly)
c.539C>G (p.Ala180Gly)
c.518C>G (p.Ala173Gly)
10g.79557468G=CA1922240998SFTPA2c.488C= (p.Ala163=)
c.539C= (p.Ala180=)
c.518C= (p.Ala173=)
10g.79557468G>TCA377353140SFTPA2c.488C>A (p.Ala163Asp)
c.539C>A (p.Ala180Asp)
c.518C>A (p.Ala173Asp)
10g.79557469C>ACA377353141SFTPA2c.487G>T (p.Ala163Ser)
c.538G>T (p.Ala180Ser)
c.517G>T (p.Ala173Ser)
10g.79557469C=CA1922241003SFTPA2c.487G= (p.Ala163=)
c.538G= (p.Ala180=)
c.517G= (p.Ala173=)
10g.79557469C>GCA377353142SFTPA2c.487G>C (p.Ala163Pro)
c.538G>C (p.Ala180Pro)
c.517G>C (p.Ala173Pro)
 gnomAD v4
10g.79557469C>TCA377353143SFTPA2c.487G>A (p.Ala163Thr)
c.538G>A (p.Ala180Thr)
c.517G>A (p.Ala173Thr)
 dbSNP
10g.79557470A>CCA377353144SFTPA2c.486T>G (p.Ile162Met)
c.537T>G (p.Ile179Met)
c.516T>G (p.Ile172Met)
10g.79557470A>GCA470414605SFTPA2c.486T>C (p.Ile162=)
c.537T>C (p.Ile179=)
c.516T>C (p.Ile172=)
10g.79557470A>TCA470414606SFTPA2c.486T>A (p.Ile162=)
c.537T>A (p.Ile179=)
c.516T>A (p.Ile172=)
10g.79557471A=CA1922244420SFTPA2c.485T= (p.Ile162=)
c.536T= (p.Ile179=)
c.515T= (p.Ile172=)
10g.79557471A>CCA377353145SFTPA2c.485T>G (p.Ile162Ser)
c.536T>G (p.Ile179Ser)
c.515T>G (p.Ile172Ser)
10g.79557471A>GCA377353146SFTPA2c.485T>C (p.Ile162Thr)
c.536T>C (p.Ile179Thr)
c.515T>C (p.Ile172Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.79557471A>TCA377353147SFTPA2c.485T>A (p.Ile162Asn)
c.536T>A (p.Ile179Asn)
c.515T>A (p.Ile172Asn)
10g.79557472T>ACA377353150SFTPA2c.484A>T (p.Ile162Phe)
c.535A>T (p.Ile179Phe)
c.514A>T (p.Ile172Phe)
 dbSNP gnomAD v2 gnomAD v4
10g.79557472T>CCA377353149SFTPA2c.484A>G (p.Ile162Val)
c.535A>G (p.Ile179Val)
c.514A>G (p.Ile172Val)
 dbSNP gnomAD v2 gnomAD v4
10g.79557472T>GCA377353148SFTPA2c.484A>C (p.Ile162Leu)
c.535A>C (p.Ile179Leu)
c.514A>C (p.Ile172Leu)
10g.79557472T=CA1922244421SFTPA2c.484A= (p.Ile162=)
c.535A= (p.Ile179=)
c.514A= (p.Ile172=)
10g.79557473G>ACA470414608SFTPA2c.483C>T (p.Arg161=)
c.534C>T (p.Arg178=)
c.513C>T (p.Arg171=)
 gnomAD v4
10g.79557473G>CCA470414607SFTPA2c.483C>G (p.Arg161=)
c.534C>G (p.Arg178=)
c.513C>G (p.Arg171=)
10g.79557473G=CA1922244422SFTPA2c.483C= (p.Arg161=)
c.534C= (p.Arg178=)
c.513C= (p.Arg171=)
10g.79557473G>TCA5574028SFTPA2c.483C>A (p.Arg161=)
c.534C>A (p.Arg178=)
c.513C>A (p.Arg171=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557474C>ACA377353151SFTPA2c.482G>T (p.Arg161Leu)
c.533G>T (p.Arg178Leu)
c.512G>T (p.Arg171Leu)
 gnomAD v4 COSMIC
10g.79557474C=CA1922244423SFTPA2c.482G= (p.Arg161=)
c.533G= (p.Arg178=)
c.512G= (p.Arg171=)
10g.79557474C>GCA377353152SFTPA2c.482G>C (p.Arg161Pro)
c.533G>C (p.Arg178Pro)
c.512G>C (p.Arg171Pro)
10g.79557474C>TCA5574029SFTPA2c.482G>A (p.Arg161His)
c.533G>A (p.Arg178His)
c.512G>A (p.Arg171His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557475G>ACA5574031SFTPA2c.481C>T (p.Arg161Cys)
c.532C>T (p.Arg178Cys)
c.511C>T (p.Arg171Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557475G>CCA5574030SFTPA2c.481C>G (p.Arg161Gly)
c.532C>G (p.Arg178Gly)
c.511C>G (p.Arg171Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557475G=CA1922244424SFTPA2c.481C= (p.Arg161=)
c.532C= (p.Arg178=)
c.511C= (p.Arg171=)
10g.79557475G>TCA377353153SFTPA2c.481C>A (p.Arg161Ser)
c.532C>A (p.Arg178Ser)
c.511C>A (p.Arg171Ser)
10g.79557476G>ACA470414609SFTPA2c.480C>T (p.Gly160=)
c.531C>T (p.Gly177=)
c.510C>T (p.Gly170=)
10g.79557476G>CCA470414610SFTPA2c.480C>G (p.Gly160=)
c.531C>G (p.Gly177=)
c.510C>G (p.Gly170=)
 dbSNP
10g.79557476G>TCA470414611SFTPA2c.480C>A (p.Gly160=)
c.531C>A (p.Gly177=)
c.510C>A (p.Gly170=)
10g.79557477C>ACA377353154SFTPA2c.479G>T (p.Gly160Val)
c.530G>T (p.Gly177Val)
c.509G>T (p.Gly170Val)
10g.79557477C>GCA377353155SFTPA2c.479G>C (p.Gly160Ala)
c.530G>C (p.Gly177Ala)
c.509G>C (p.Gly170Ala)
10g.79557477C>TCA377353156SFTPA2c.479G>A (p.Gly160Asp)
c.530G>A (p.Gly177Asp)
c.509G>A (p.Gly170Asp)
 gnomAD v4
10g.79557477_79557478insACA2609869145SFTPA2c.478_479insT (p.Gly160ValfsTer13)
c.529_530insT (p.Gly177ValfsTer13)
c.508_509insT (p.Gly170ValfsTer13)
 gnomAD v4
10g.79557478C>ACA377353157SFTPA2c.478G>T (p.Gly160Cys)
c.529G>T (p.Gly177Cys)
c.508G>T (p.Gly170Cys)
10g.79557478C=CA1922244425SFTPA2c.478G= (p.Gly160=)
c.529G= (p.Gly177=)
c.508G= (p.Gly170=)
10g.79557478C>GCA377353158SFTPA2c.478G>C (p.Gly160Arg)
c.529G>C (p.Gly177Arg)
c.508G>C (p.Gly170Arg)
10g.79557478C>TCA210248358SFTPA2c.478G>A (p.Gly160Ser)
c.529G>A (p.Gly177Ser)
c.508G>A (p.Gly170Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557478_79557479insATCA2609869146SFTPA2c.477_478insAT (p.Gly160MetfsTer20)
c.528_529insAT (p.Gly177MetfsTer20)
c.507_508insAT (p.Gly170MetfsTer20)
 gnomAD v4
10g.79557479G>ACA5574032SFTPA2c.477C>T (p.Gly159=)
c.528C>T (p.Gly176=)
c.507C>T (p.Gly169=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557479G>CCA470414612SFTPA2c.477C>G (p.Gly159=)
c.528C>G (p.Gly176=)
c.507C>G (p.Gly169=)
10g.79557479G=CA1922244426SFTPA2c.477C= (p.Gly159=)
c.528C= (p.Gly176=)
c.507C= (p.Gly169=)
10g.79557479G>TCA5574033SFTPA2c.477C>A (p.Gly159=)
c.528C>A (p.Gly176=)
c.507C>A (p.Gly169=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557480C>ACA377353159SFTPA2c.476G>T (p.Gly159Val)
c.527G>T (p.Gly176Val)
c.506G>T (p.Gly169Val)
10g.79557480C=CA1922244427SFTPA2c.476G= (p.Gly159=)
c.527G= (p.Gly176=)
c.506G= (p.Gly169=)
10g.79557480C>GCA377353160SFTPA2c.476G>C (p.Gly159Ala)
c.527G>C (p.Gly176Ala)
c.506G>C (p.Gly169Ala)
10g.79557480C>TCA5574034SFTPA2c.476G>A (p.Gly159Asp)
c.527G>A (p.Gly176Asp)
c.506G>A (p.Gly169Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557480_79557481delCA2609869147SFTPA2c.475_476del (p.Gly159ArgfsTer13)
c.526_527del (p.Gly176ArgfsTer13)
c.505_506del (p.Gly169ArgfsTer13)
 gnomAD v4
10g.79557481C>ACA377353161SFTPA2c.475G>T (p.Gly159Cys)
c.526G>T (p.Gly176Cys)
c.505G>T (p.Gly169Cys)
10g.79557481C>GCA377353163SFTPA2c.475G>C (p.Gly159Arg)
c.526G>C (p.Gly176Arg)
c.505G>C (p.Gly169Arg)
10g.79557481C>TCA377353162SFTPA2c.475G>A (p.Gly159Ser)
c.526G>A (p.Gly176Ser)
c.505G>A (p.Gly169Ser)
 gnomAD v4
10g.79557482T>ACA470414613SFTPA2c.474A>T (p.Ala158=)
c.525A>T (p.Ala175=)
c.504A>T (p.Ala168=)
10g.79557482T>CCA470414614SFTPA2c.474A>G (p.Ala158=)
c.525A>G (p.Ala175=)
c.504A>G (p.Ala168=)
10g.79557482T>GCA470414615SFTPA2c.474A>C (p.Ala158=)
c.525A>C (p.Ala175=)
c.504A>C (p.Ala168=)
 gnomAD v4
10g.79557483G>ACA377353164SFTPA2c.473C>T (p.Ala158Val)
c.524C>T (p.Ala175Val)
c.503C>T (p.Ala168Val)
 dbSNP gnomAD v4
10g.79557483G>CCA377353165SFTPA2c.473C>G (p.Ala158Gly)
c.524C>G (p.Ala175Gly)
c.503C>G (p.Ala168Gly)
10g.79557483G=CA1922244428SFTPA2c.473C= (p.Ala158=)
c.524C= (p.Ala175=)
c.503C= (p.Ala168=)
10g.79557483G>TCA377353166SFTPA2c.473C>A (p.Ala158Glu)
c.524C>A (p.Ala175Glu)
c.503C>A (p.Ala168Glu)
 dbSNP gnomAD v3 gnomAD v4
10g.79557484C>ACA377353167SFTPA2c.472G>T (p.Ala158Ser)
c.523G>T (p.Ala175Ser)
c.502G>T (p.Ala168Ser)
10g.79557484C>GCA377353168SFTPA2c.472G>C (p.Ala158Pro)
c.523G>C (p.Ala175Pro)
c.502G>C (p.Ala168Pro)
10g.79557484C>TCA377353169SFTPA2c.472G>A (p.Ala158Thr)
c.523G>A (p.Ala175Thr)
c.502G>A (p.Ala168Thr)
 gnomAD v4
10g.79557485T>ACA377353170SFTPA2c.471A>T (p.Arg157Ser)
c.522A>T (p.Arg174Ser)
c.501A>T (p.Arg167Ser)
10g.79557485T>CCA470414616SFTPA2c.471A>G (p.Arg157=)
c.522A>G (p.Arg174=)
c.501A>G (p.Arg167=)
10g.79557485T>GCA377353171SFTPA2c.471A>C (p.Arg157Ser)
c.522A>C (p.Arg174Ser)
c.501A>C (p.Arg167Ser)
10g.79557486C>ACA377353172SFTPA2c.470G>T (p.Arg157Ile)
c.521G>T (p.Arg174Ile)
c.500G>T (p.Arg167Ile)
10g.79557486C>GCA377353173SFTPA2c.470G>C (p.Arg157Thr)
c.521G>C (p.Arg174Thr)
c.500G>C (p.Arg167Thr)
10g.79557486C>TCA377353174SFTPA2c.470G>A (p.Arg157Lys)
c.521G>A (p.Arg174Lys)
c.500G>A (p.Arg167Lys)
10g.79557487T>ACA377353176SFTPA2c.469A>T (p.Arg157Ter)
c.520A>T (p.Arg174Ter)
c.499A>T (p.Arg167Ter)
10g.79557487T>CCA377353175SFTPA2c.469A>G (p.Arg157Gly)
c.520A>G (p.Arg174Gly)
c.499A>G (p.Arg167Gly)
10g.79557487T>GCA470414617SFTPA2c.469A>C (p.Arg157=)
c.520A>C (p.Arg174=)
c.499A>C (p.Arg167=)
10g.79557488G>ACA470414618SFTPA2c.468C>T (p.Ala156=)
c.519C>T (p.Ala173=)
c.498C>T (p.Ala166=)
10g.79557488G>CCA470414619SFTPA2c.468C>G (p.Ala156=)
c.519C>G (p.Ala173=)
c.498C>G (p.Ala166=)
 gnomAD v4
10g.79557488G>TCA470414620SFTPA2c.468C>A (p.Ala156=)
c.519C>A (p.Ala173=)
c.498C>A (p.Ala166=)
10g.79557489G>ACA377353177SFTPA2c.467C>T (p.Ala156Val)
c.518C>T (p.Ala173Val)
c.497C>T (p.Ala166Val)
 dbSNP gnomAD v3 gnomAD v4
10g.79557489G>CCA377353178SFTPA2c.467C>G (p.Ala156Gly)
c.518C>G (p.Ala173Gly)
c.497C>G (p.Ala166Gly)
10g.79557489G=CA1922244429SFTPA2c.467C= (p.Ala156=)
c.518C= (p.Ala173=)
c.497C= (p.Ala166=)
10g.79557489G>TCA377353179SFTPA2c.467C>A (p.Ala156Asp)
c.518C>A (p.Ala173Asp)
c.497C>A (p.Ala166Asp)
10g.79557490C>ACA377353180SFTPA2c.466G>T (p.Ala156Ser)
c.517G>T (p.Ala173Ser)
c.496G>T (p.Ala166Ser)
 gnomAD v4
10g.79557490C>GCA377353181SFTPA2c.466G>C (p.Ala156Pro)
c.517G>C (p.Ala173Pro)
c.496G>C (p.Ala166Pro)
10g.79557490C>TCA377353182SFTPA2c.466G>A (p.Ala156Thr)
c.517G>A (p.Ala173Thr)
c.496G>A (p.Ala166Thr)
10g.79557491A>CCA377353183SFTPA2c.465T>G (p.Cys155Trp)
c.516T>G (p.Cys172Trp)
c.495T>G (p.Cys165Trp)
10g.79557491A>GCA470414621SFTPA2c.465T>C (p.Cys155=)
c.516T>C (p.Cys172=)
c.495T>C (p.Cys165=)
 gnomAD v4
10g.79557491A>TCA377353184SFTPA2c.465T>A (p.Cys155Ter)
c.516T>A (p.Cys172Ter)
c.495T>A (p.Cys165Ter)
10g.79557492C>ACA377353185SFTPA2c.464G>T (p.Cys155Phe)
c.515G>T (p.Cys172Phe)
c.494G>T (p.Cys165Phe)
10g.79557492C>GCA377353186SFTPA2c.464G>C (p.Cys155Ser)
c.515G>C (p.Cys172Ser)
c.494G>C (p.Cys165Ser)
10g.79557492C>TCA377353187SFTPA2c.464G>A (p.Cys155Tyr)
c.515G>A (p.Cys172Tyr)
c.494G>A (p.Cys165Tyr)
10g.79557493A>CCA377353190SFTPA2c.463T>G (p.Cys155Gly)
c.514T>G (p.Cys172Gly)
c.493T>G (p.Cys165Gly)
10g.79557493A>GCA377353189SFTPA2c.463T>C (p.Cys155Arg)
c.514T>C (p.Cys172Arg)
c.493T>C (p.Cys165Arg)
10g.79557493A>TCA377353188SFTPA2c.463T>A (p.Cys155Ser)
c.514T>A (p.Cys172Ser)
c.493T>A (p.Cys165Ser)
10g.79557494T>ACA470414624SFTPA2c.462A>T (p.Ala154=)
c.513A>T (p.Ala171=)
c.492A>T (p.Ala164=)
10g.79557494T>CCA470414623SFTPA2c.462A>G (p.Ala154=)
c.513A>G (p.Ala171=)
c.492A>G (p.Ala164=)
10g.79557494T>GCA470414622SFTPA2c.462A>C (p.Ala154=)
c.513A>C (p.Ala171=)
c.492A>C (p.Ala164=)
10g.79557495G>ACA377353191SFTPA2c.461C>T (p.Ala154Val)
c.512C>T (p.Ala171Val)
c.491C>T (p.Ala164Val)
10g.79557495G>CCA377353192SFTPA2c.461C>G (p.Ala154Gly)
c.512C>G (p.Ala171Gly)
c.491C>G (p.Ala164Gly)
10g.79557495G>TCA377353193SFTPA2c.461C>A (p.Ala154Glu)
c.512C>A (p.Ala171Glu)
c.491C>A (p.Ala164Glu)
10g.79557496C>ACA377353194SFTPA2c.460G>T (p.Ala154Ser)
c.511G>T (p.Ala171Ser)
c.490G>T (p.Ala164Ser)
10g.79557496C=CA1922244430SFTPA2c.460G= (p.Ala154=)
c.511G= (p.Ala171=)
c.490G= (p.Ala164=)
10g.79557496C>GCA5574035SFTPA2c.460G>C (p.Ala154Pro)
c.511G>C (p.Ala171Pro)
c.490G>C (p.Ala164Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557496C>TCA377353195SFTPA2c.460G>A (p.Ala154Thr)
c.511G>A (p.Ala171Thr)
c.490G>A (p.Ala164Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.79557497C>ACA377353196SFTPA2c.459G>T (p.Glu153Asp)
c.510G>T (p.Glu170Asp)
c.489G>T (p.Glu163Asp)
10g.79557497C=CA1922244431SFTPA2c.459G= (p.Glu153=)
c.510G= (p.Glu170=)
c.489G= (p.Glu163=)
10g.79557497C>GCA377353197SFTPA2c.459G>C (p.Glu153Asp)
c.510G>C (p.Glu170Asp)
c.489G>C (p.Glu163Asp)
10g.79557497C>TCA470414625SFTPA2c.459G>A (p.Glu153=)
c.510G>A (p.Glu170=)
c.489G>A (p.Glu163=)
 dbSNP
10g.79557498T>ACA377353198SFTPA2c.458A>T (p.Glu153Val)
c.509A>T (p.Glu170Val)
c.488A>T (p.Glu163Val)
10g.79557498T>CCA377353199SFTPA2c.458A>G (p.Glu153Gly)
c.509A>G (p.Glu170Gly)
c.488A>G (p.Glu163Gly)
10g.79557498T>GCA377353200SFTPA2c.458A>C (p.Glu153Ala)
c.509A>C (p.Glu170Ala)
c.488A>C (p.Glu163Ala)
10g.79557499C>ACA377353203SFTPA2c.457G>T (p.Glu153Ter)
c.508G>T (p.Glu170Ter)
c.487G>T (p.Glu163Ter)
10g.79557499C>GCA377353202SFTPA2c.457G>C (p.Glu153Gln)
c.508G>C (p.Glu170Gln)
c.487G>C (p.Glu163Gln)
10g.79557499C>TCA377353201SFTPA2c.457G>A (p.Glu153Lys)
c.508G>A (p.Glu170Lys)
c.487G>A (p.Glu163Lys)
 gnomAD v4
10g.79557499_79557500insACA2609869149SFTPA2c.456_457insT (p.Glu153Ter)
c.507_508insT (p.Glu170Ter)
c.486_487insT (p.Glu163Ter)
 gnomAD v4
10g.79557500C>ACA377353204SFTPA2c.456G>T (p.Gln152His)
c.507G>T (p.Gln169His)
c.486G>T (p.Gln162His)
10g.79557500C=CA1922244432SFTPA2c.456G= (p.Gln152=)
c.507G= (p.Gln169=)
c.486G= (p.Gln162=)
10g.79557500C>GCA377353205SFTPA2c.456G>C (p.Gln152His)
c.507G>C (p.Gln169His)
c.486G>C (p.Gln162His)
10g.79557500C>TCA5574036SFTPA2c.456G>A (p.Gln152=)
c.507G>A (p.Gln169=)
c.486G>A (p.Gln162=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557501T>ACA377353206SFTPA2c.455A>T (p.Gln152Leu)
c.506A>T (p.Gln169Leu)
c.485A>T (p.Gln162Leu)
10g.79557501T>CCA5574037SFTPA2c.455A>G (p.Gln152Arg)
c.506A>G (p.Gln169Arg)
c.485A>G (p.Gln162Arg)
 dbSNP ExAC
10g.79557501T>GCA377353207SFTPA2c.455A>C (p.Gln152Pro)
c.506A>C (p.Gln169Pro)
c.485A>C (p.Gln162Pro)
10g.79557501T=CA1922244433SFTPA2c.455A= (p.Gln152=)
c.506A= (p.Gln169=)
c.485A= (p.Gln162=)
10g.79557502delCA2609869150SFTPA2c.454del (p.Gln152ArgfsTer27)
c.454del (p.Gln152ArgfsTer?)
c.505del (p.Gln169ArgfsTer27)
c.484del (p.Gln162ArgfsTer27)
 gnomAD v4
10g.79557502G>ACA377353208SFTPA2c.454C>T (p.Gln152Ter)
c.505C>T (p.Gln169Ter)
c.484C>T (p.Gln162Ter)
10g.79557502G>CCA377353209SFTPA2c.454C>G (p.Gln152Glu)
c.505C>G (p.Gln169Glu)
c.484C>G (p.Gln162Glu)
10g.79557502G>TCA377353210SFTPA2c.454C>A (p.Gln152Lys)
c.505C>A (p.Gln169Lys)
c.484C>A (p.Gln162Lys)
10g.79557503A>CCA377353211SFTPA2c.453T>G (p.Ile151Met)
c.504T>G (p.Ile168Met)
c.483T>G (p.Ile161Met)
10g.79557503A>GCA470414626SFTPA2c.453T>C (p.Ile151=)
c.504T>C (p.Ile168=)
c.483T>C (p.Ile161=)
10g.79557503A>TCA470414627SFTPA2c.453T>A (p.Ile151=)
c.504T>A (p.Ile168=)
c.483T>A (p.Ile161=)
10g.79557504A=CA1922244434SFTPA2c.452T= (p.Ile151=)
c.503T= (p.Ile168=)
c.482T= (p.Ile161=)
10g.79557504A>CCA377353212SFTPA2c.452T>G (p.Ile151Ser)
c.503T>G (p.Ile168Ser)
c.482T>G (p.Ile161Ser)
10g.79557504A>GCA210248380SFTPA2c.452T>C (p.Ile151Thr)
c.503T>C (p.Ile168Thr)
c.482T>C (p.Ile161Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.79557504A>TCA377353213SFTPA2c.452T>A (p.Ile151Asn)
c.503T>A (p.Ile168Asn)
c.482T>A (p.Ile161Asn)
10g.79557505T>ACA377353215SFTPA2c.451A>T (p.Ile151Phe)
c.502A>T (p.Ile168Phe)
c.481A>T (p.Ile161Phe)
10g.79557505T>CCA377353216SFTPA2c.451A>G (p.Ile151Val)
c.502A>G (p.Ile168Val)
c.481A>G (p.Ile161Val)
 gnomAD v4
10g.79557505T>GCA377353214SFTPA2c.451A>C (p.Ile151Leu)
c.502A>C (p.Ile168Leu)
c.481A>C (p.Ile161Leu)
10g.79557506G>ACA470414628SFTPA2c.450C>T (p.Ala150=)
c.501C>T (p.Ala167=)
c.480C>T (p.Ala160=)
10g.79557506G>CCA470414629SFTPA2c.450C>G (p.Ala150=)
c.501C>G (p.Ala167=)
c.480C>G (p.Ala160=)
10g.79557506G>TCA470414630SFTPA2c.450C>A (p.Ala150=)
c.501C>A (p.Ala167=)
c.480C>A (p.Ala160=)
10g.79557507G>ACA377353219SFTPA2c.449C>T (p.Ala150Val)
c.500C>T (p.Ala167Val)
c.479C>T (p.Ala160Val)
 dbSNP gnomAD v3 gnomAD v4
10g.79557507G>CCA377353217SFTPA2c.449C>G (p.Ala150Gly)
c.500C>G (p.Ala167Gly)
c.479C>G (p.Ala160Gly)
10g.79557507G=CA1922244435SFTPA2c.449C= (p.Ala150=)
c.500C= (p.Ala167=)
c.479C= (p.Ala160=)
10g.79557507G>TCA377353218SFTPA2c.449C>A (p.Ala150Asp)
c.500C>A (p.Ala167Asp)
c.479C>A (p.Ala160Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557508C>ACA377353220SFTPA2c.448G>T (p.Ala150Ser)
c.499G>T (p.Ala167Ser)
c.478G>T (p.Ala160Ser)
10g.79557508C>GCA377353221SFTPA2c.448G>C (p.Ala150Pro)
c.499G>C (p.Ala167Pro)
c.478G>C (p.Ala160Pro)
10g.79557508C>TCA377353222SFTPA2c.448G>A (p.Ala150Thr)
c.499G>A (p.Ala167Thr)
c.478G>A (p.Ala160Thr)
10g.79557509A>CCA377353223SFTPA2c.447T>G (p.Asp149Glu)
c.498T>G (p.Asp166Glu)
c.477T>G (p.Asp159Glu)
10g.79557509A>GCA470414631SFTPA2c.447T>C (p.Asp149=)
c.498T>C (p.Asp166=)
c.477T>C (p.Asp159=)
10g.79557509A>TCA377353224SFTPA2c.447T>A (p.Asp149Glu)
c.498T>A (p.Asp166Glu)
c.477T>A (p.Asp159Glu)
10g.79557510T>ACA377353225SFTPA2c.446A>T (p.Asp149Val)
c.497A>T (p.Asp166Val)
c.476A>T (p.Asp159Val)
 gnomAD v4
10g.79557510T>CCA377353226SFTPA2c.446A>G (p.Asp149Gly)
c.497A>G (p.Asp166Gly)
c.476A>G (p.Asp159Gly)
10g.79557510T>GCA377353227SFTPA2c.446A>C (p.Asp149Ala)
c.497A>C (p.Asp166Ala)
c.476A>C (p.Asp159Ala)
10g.79557511C>ACA377353228SFTPA2c.445G>T (p.Asp149Tyr)
c.496G>T (p.Asp166Tyr)
c.475G>T (p.Asp159Tyr)
 gnomAD v4
10g.79557511C>GCA377353229SFTPA2c.445G>C (p.Asp149His)
c.496G>C (p.Asp166His)
c.475G>C (p.Asp159His)
 gnomAD v4
10g.79557511C>TCA377353230SFTPA2c.445G>A (p.Asp149Asn)
c.496G>A (p.Asp166Asn)
c.475G>A (p.Asp159Asn)
10g.79557512A>CCA377353232SFTPA2c.444T>G (p.Phe148Leu)
c.495T>G (p.Phe165Leu)
c.474T>G (p.Phe158Leu)
10g.79557512A>GCA470414632SFTPA2c.444T>C (p.Phe148=)
c.495T>C (p.Phe165=)
c.474T>C (p.Phe158=)
10g.79557512A>TCA377353231SFTPA2c.444T>A (p.Phe148Leu)
c.495T>A (p.Phe165Leu)
c.474T>A (p.Phe158Leu)
 gnomAD v4
10g.79557513A=CA1922244436SFTPA2c.443T= (p.Phe148=)
c.494T= (p.Phe165=)
c.473T= (p.Phe158=)
10g.79557513A>CCA377353233SFTPA2c.443T>G (p.Phe148Cys)
c.494T>G (p.Phe165Cys)
c.473T>G (p.Phe158Cys)
10g.79557513A>GCA377353234SFTPA2c.443T>C (p.Phe148Ser)
c.494T>C (p.Phe165Ser)
c.473T>C (p.Phe158Ser)
 dbSNP gnomAD v4
10g.79557513A>TCA377353235SFTPA2c.443T>A (p.Phe148Tyr)
c.494T>A (p.Phe165Tyr)
c.473T>A (p.Phe158Tyr)
10g.79557514A>CCA377353236SFTPA2c.442T>G (p.Phe148Val)
c.493T>G (p.Phe165Val)
c.472T>G (p.Phe158Val)
10g.79557514A>GCA377353237SFTPA2c.442T>C (p.Phe148Leu)
c.493T>C (p.Phe165Leu)
c.472T>C (p.Phe158Leu)
10g.79557514A>TCA377353238SFTPA2c.442T>A (p.Phe148Ile)
c.493T>A (p.Phe165Ile)
c.472T>A (p.Phe158Ile)

Number of alleles fetched