Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79557305_79557324del | CA5573988 | SFTPA2 | c.635_654del (p.Tyr212SerfsTer17) c.686_705del (p.Tyr229SerfsTer17) c.665_684del (p.Tyr222SerfsTer17) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557322A>C | CA377352825 | SFTPA2 | c.634T>G (p.Tyr212Asp) c.685T>G (p.Tyr229Asp) c.664T>G (p.Tyr222Asp) | |
10 | g.79557322A>G | CA377352826 | SFTPA2 | c.634T>C (p.Tyr212His) c.685T>C (p.Tyr229His) c.664T>C (p.Tyr222His) | |
10 | g.79557322A>T | CA377352827 | SFTPA2 | c.634T>A (p.Tyr212Asn) c.685T>A (p.Tyr229Asn) c.664T>A (p.Tyr222Asn) | |
10 | g.79557323C>A | CA377352828 | SFTPA2 | c.633G>T (p.Trp211Cys) c.684G>T (p.Trp228Cys) c.663G>T (p.Trp221Cys) | |
10 | g.79557323C>G | CA377352829 | SFTPA2 | c.633G>C (p.Trp211Cys) c.684G>C (p.Trp228Cys) c.663G>C (p.Trp221Cys) | |
10 | g.79557323C>T | CA377352830 | SFTPA2 | c.633G>A (p.Trp211Ter) c.684G>A (p.Trp228Ter) c.663G>A (p.Trp221Ter) | |
10 | g.79557324C>A | CA377352831 | SFTPA2 | c.632G>T (p.Trp211Leu) c.683G>T (p.Trp228Leu) c.662G>T (p.Trp221Leu) | |
10 | g.79557324C= | CA1922240767 | SFTPA2 | c.632G= (p.Trp211=) c.683G= (p.Trp228=) c.662G= (p.Trp221=) | |
10 | g.79557324C>G | CA377352832 | SFTPA2 | c.632G>C (p.Trp211Ser) c.683G>C (p.Trp228Ser) c.662G>C (p.Trp221Ser) | |
10 | g.79557324C>T | CA377352833 | SFTPA2 | c.632G>A (p.Trp211Ter) c.683G>A (p.Trp228Ter) c.662G>A (p.Trp221Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557325A>C | CA377352836 | SFTPA2 | c.631T>G (p.Trp211Gly) c.682T>G (p.Trp228Gly) c.661T>G (p.Trp221Gly) | |
10 | g.79557325A>G | CA377352835 | SFTPA2 | c.631T>C (p.Trp211Arg) c.682T>C (p.Trp228Arg) c.661T>C (p.Trp221Arg) | |
10 | g.79557325A>T | CA377352834 | SFTPA2 | c.631T>A (p.Trp211Arg) c.682T>A (p.Trp228Arg) c.661T>A (p.Trp221Arg) | |
10 | g.79557326G>A | CA210248179 | SFTPA2 | c.630C>T (p.Asn210=) c.681C>T (p.Asn227=) c.660C>T (p.Asn220=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557326G>C | CA377352837 | SFTPA2 | c.630C>G (p.Asn210Lys) c.681C>G (p.Asn227Lys) c.660C>G (p.Asn220Lys) | dbSNP |
10 | g.79557326G= | CA1922240771 | SFTPA2 | c.630C= (p.Asn210=) c.681C= (p.Asn227=) c.660C= (p.Asn220=) | |
10 | g.79557326G>T | CA377352838 | SFTPA2 | c.630C>A (p.Asn210Lys) c.681C>A (p.Asn227Lys) c.660C>A (p.Asn220Lys) | |
10 | g.79557327T>A | CA377352839 | SFTPA2 | c.629A>T (p.Asn210Ile) c.680A>T (p.Asn227Ile) c.659A>T (p.Asn220Ile) | |
10 | g.79557327T>C | CA5573996 | SFTPA2 | c.629A>G (p.Asn210Ser) c.680A>G (p.Asn227Ser) c.659A>G (p.Asn220Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557327T>G | CA377352840 | SFTPA2 | c.629A>C (p.Asn210Thr) c.680A>C (p.Asn227Thr) c.659A>C (p.Asn220Thr) | |
10 | g.79557327T= | CA1922240778 | SFTPA2 | c.629A= (p.Asn210=) c.680A= (p.Asn227=) c.659A= (p.Asn220=) | |
10 | g.79557328T>A | CA377352841 | SFTPA2 | c.628A>T (p.Asn210Tyr) c.679A>T (p.Asn227Tyr) c.658A>T (p.Asn220Tyr) | |
10 | g.79557328T>C | CA377352842 | SFTPA2 | c.628A>G (p.Asn210Asp) c.679A>G (p.Asn227Asp) c.658A>G (p.Asn220Asp) | |
10 | g.79557328T>G | CA377352843 | SFTPA2 | c.628A>C (p.Asn210His) c.679A>C (p.Asn227His) c.658A>C (p.Asn220His) | |
10 | g.79557329G>A | CA470414506 | SFTPA2 | c.627C>T (p.Thr209=) c.678C>T (p.Thr226=) c.657C>T (p.Thr219=) | |
10 | g.79557329G>C | CA470414507 | SFTPA2 | c.627C>G (p.Thr209=) c.678C>G (p.Thr226=) c.657C>G (p.Thr219=) | |
10 | g.79557329G>T | CA470414508 | SFTPA2 | c.627C>A (p.Thr209=) c.678C>A (p.Thr226=) c.657C>A (p.Thr219=) | |
10 | g.79557330G>A | CA377352844 | SFTPA2 | c.626C>T (p.Thr209Ile) c.677C>T (p.Thr226Ile) c.656C>T (p.Thr219Ile) | |
10 | g.79557330G>C | CA377352845 | SFTPA2 | c.626C>G (p.Thr209Ser) c.677C>G (p.Thr226Ser) c.656C>G (p.Thr219Ser) | gnomAD v4 |
10 | g.79557330G>T | CA377352846 | SFTPA2 | c.626C>A (p.Thr209Asn) c.677C>A (p.Thr226Asn) c.656C>A (p.Thr219Asn) | |
10 | g.79557331T>A | CA377352849 | SFTPA2 | c.625A>T (p.Thr209Ser) c.676A>T (p.Thr226Ser) c.655A>T (p.Thr219Ser) | |
10 | g.79557331T>C | CA377352848 | SFTPA2 | c.625A>G (p.Thr209Ala) c.676A>G (p.Thr226Ala) c.655A>G (p.Thr219Ala) | |
10 | g.79557331T>G | CA377352847 | SFTPA2 | c.625A>C (p.Thr209Pro) c.676A>C (p.Thr226Pro) c.655A>C (p.Thr219Pro) | |
10 | g.79557332G>A | CA5573997 | SFTPA2 | c.624C>T (p.Tyr208=) c.675C>T (p.Tyr225=) c.654C>T (p.Tyr218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557332G>C | CA377352850 | SFTPA2 | c.624C>G (p.Tyr208Ter) c.675C>G (p.Tyr225Ter) c.654C>G (p.Tyr218Ter) | |
10 | g.79557332G= | CA1922240780 | SFTPA2 | c.624C= (p.Tyr208=) c.675C= (p.Tyr225=) c.654C= (p.Tyr218=) | |
10 | g.79557332G>T | CA377352851 | SFTPA2 | c.624C>A (p.Tyr208Ter) c.675C>A (p.Tyr225Ter) c.654C>A (p.Tyr218Ter) | |
10 | g.79557333T>A | CA377352852 | SFTPA2 | c.623A>T (p.Tyr208Phe) c.674A>T (p.Tyr225Phe) c.653A>T (p.Tyr218Phe) | |
10 | g.79557333T>C | CA377352853 | SFTPA2 | c.623A>G (p.Tyr208Cys) c.674A>G (p.Tyr225Cys) c.653A>G (p.Tyr218Cys) | |
10 | g.79557333T>G | CA377352854 | SFTPA2 | c.623A>C (p.Tyr208Ser) c.674A>C (p.Tyr225Ser) c.653A>C (p.Tyr218Ser) | |
10 | g.79557334A>C | CA377352855 | SFTPA2 | c.622T>G (p.Tyr208Asp) c.673T>G (p.Tyr225Asp) c.652T>G (p.Tyr218Asp) | |
10 | g.79557334A>G | CA377352856 | SFTPA2 | c.622T>C (p.Tyr208His) c.673T>C (p.Tyr225His) c.652T>C (p.Tyr218His) | |
10 | g.79557334A>T | CA377352857 | SFTPA2 | c.622T>A (p.Tyr208Asn) c.673T>A (p.Tyr225Asn) c.652T>A (p.Tyr218Asn) | |
10 | g.79557335G>A | CA470414509 | SFTPA2 | c.621C>T (p.Asn207=) c.672C>T (p.Asn224=) c.651C>T (p.Asn217=) | |
10 | g.79557335G>C | CA377352858 | SFTPA2 | c.621C>G (p.Asn207Lys) c.672C>G (p.Asn224Lys) c.651C>G (p.Asn217Lys) | |
10 | g.79557335G>T | CA377352859 | SFTPA2 | c.621C>A (p.Asn207Lys) c.672C>A (p.Asn224Lys) c.651C>A (p.Asn217Lys) | |
10 | g.79557336T>A | CA377352862 | SFTPA2 | c.620A>T (p.Asn207Ile) c.671A>T (p.Asn224Ile) c.650A>T (p.Asn217Ile) | |
10 | g.79557336T>C | CA377352861 | SFTPA2 | c.620A>G (p.Asn207Ser) c.671A>G (p.Asn224Ser) c.650A>G (p.Asn217Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557336T>G | CA377352860 | SFTPA2 | c.620A>C (p.Asn207Thr) c.671A>C (p.Asn224Thr) c.650A>C (p.Asn217Thr) | |
10 | g.79557336T= | CA1922240782 | SFTPA2 | c.620A= (p.Asn207=) c.671A= (p.Asn224=) c.650A= (p.Asn217=) | |
10 | g.79557337T>A | CA377352863 | SFTPA2 | c.619A>T (p.Asn207Tyr) c.670A>T (p.Asn224Tyr) c.649A>T (p.Asn217Tyr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557337T>C | CA377352864 | SFTPA2 | c.619A>G (p.Asn207Asp) c.670A>G (p.Asn224Asp) c.649A>G (p.Asn217Asp) | |
10 | g.79557337T>G | CA377352865 | SFTPA2 | c.619A>C (p.Asn207His) c.670A>C (p.Asn224His) c.649A>C (p.Asn217His) | gnomAD v4 |
10 | g.79557337T= | CA1922240785 | SFTPA2 | c.619A= (p.Asn207=) c.670A= (p.Asn224=) c.649A= (p.Asn217=) | |
10 | g.79557338T>A | CA470414510 | SFTPA2 | c.618A>T (p.Val206=) c.669A>T (p.Val223=) c.648A>T (p.Val216=) | |
10 | g.79557338T>C | CA5573998 | SFTPA2 | c.618A>G (p.Val206=) c.669A>G (p.Val223=) c.648A>G (p.Val216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557338T>G | CA470414511 | SFTPA2 | c.618A>C (p.Val206=) c.669A>C (p.Val223=) c.648A>C (p.Val216=) | |
10 | g.79557338T= | CA1922240787 | SFTPA2 | c.618A= (p.Val206=) c.669A= (p.Val223=) c.648A= (p.Val216=) | |
10 | g.79557339A>C | CA377352866 | SFTPA2 | c.617T>G (p.Val206Gly) c.668T>G (p.Val223Gly) c.647T>G (p.Val216Gly) | |
10 | g.79557339A>G | CA377352867 | SFTPA2 | c.617T>C (p.Val206Ala) c.668T>C (p.Val223Ala) c.647T>C (p.Val216Ala) | |
10 | g.79557339A>T | CA377352868 | SFTPA2 | c.617T>A (p.Val206Glu) c.668T>A (p.Val223Glu) c.647T>A (p.Val216Glu) | gnomAD v3 gnomAD v4 |
10 | g.79557340C>A | CA377352869 | SFTPA2 | c.616G>T (p.Val206Leu) c.667G>T (p.Val223Leu) c.646G>T (p.Val216Leu) | |
10 | g.79557340C>G | CA377352870 | SFTPA2 | c.616G>C (p.Val206Leu) c.667G>C (p.Val223Leu) c.646G>C (p.Val216Leu) | |
10 | g.79557340C>T | CA377352871 | SFTPA2 | c.616G>A (p.Val206Ile) c.667G>A (p.Val223Ile) c.646G>A (p.Val216Ile) | gnomAD v4 |
10 | g.79557341A>C | CA470414512 | SFTPA2 | c.615T>G (p.Pro205=) c.666T>G (p.Pro222=) c.645T>G (p.Pro215=) | |
10 | g.79557341A>G | CA470414514 | SFTPA2 | c.615T>C (p.Pro205=) c.666T>C (p.Pro222=) c.645T>C (p.Pro215=) | |
10 | g.79557341A>T | CA470414513 | SFTPA2 | c.615T>A (p.Pro205=) c.666T>A (p.Pro222=) c.645T>A (p.Pro215=) | |
10 | g.79557341_79557343delinsAGG | CA1922240792 | SFTPA2 | c.613_615delinsCCT (p.Pro205=) c.664_666delinsCCT (p.Pro222=) c.643_645delinsCCT (p.Pro215=) | |
10 | g.79557342G>A | CA377352872 | SFTPA2 | c.614C>T (p.Pro205Leu) c.665C>T (p.Pro222Leu) c.644C>T (p.Pro215Leu) | |
10 | g.79557342G>C | CA377352873 | SFTPA2 | c.614C>G (p.Pro205Arg) c.665C>G (p.Pro222Arg) c.644C>G (p.Pro215Arg) | |
10 | g.79557342G>T | CA377352874 | SFTPA2 | c.614C>A (p.Pro205His) c.665C>A (p.Pro222His) c.644C>A (p.Pro215His) | |
10 | g.79557344_79557345del | CA1922240796 | SFTPA2 | c.613_614del (p.Pro205CysfsTer30) c.664_665del (p.Pro222CysfsTer30) c.643_644del (p.Pro215CysfsTer30) | dbSNP |
10 | g.79557343G>A | CA377352876 | SFTPA2 | c.613C>T (p.Pro205Ser) c.664C>T (p.Pro222Ser) c.643C>T (p.Pro215Ser) | |
10 | g.79557343G>C | CA5573999 | SFTPA2 | c.613C>G (p.Pro205Ala) c.664C>G (p.Pro222Ala) c.643C>G (p.Pro215Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557343G= | CA1922240798 | SFTPA2 | c.613C= (p.Pro205=) c.664C= (p.Pro222=) c.643C= (p.Pro215=) | |
10 | g.79557343G>T | CA377352875 | SFTPA2 | c.613C>A (p.Pro205Thr) c.664C>A (p.Pro222Thr) c.643C>A (p.Pro215Thr) | |
10 | g.79557344G>A | CA470414515 | SFTPA2 | c.612C>T (p.Thr204=) c.663C>T (p.Thr221=) c.642C>T (p.Thr214=) | |
10 | g.79557344G>C | CA470414516 | SFTPA2 | c.612C>G (p.Thr204=) c.663C>G (p.Thr221=) c.642C>G (p.Thr214=) | |
10 | g.79557344G>T | CA470414517 | SFTPA2 | c.612C>A (p.Thr204=) c.663C>A (p.Thr221=) c.642C>A (p.Thr214=) | |
10 | g.79557345G>A | CA377352879 | SFTPA2 | c.611C>T (p.Thr204Ile) c.662C>T (p.Thr221Ile) c.641C>T (p.Thr214Ile) | |
10 | g.79557345G>C | CA377352877 | SFTPA2 | c.611C>G (p.Thr204Ser) c.662C>G (p.Thr221Ser) c.641C>G (p.Thr214Ser) | |
10 | g.79557345G>T | CA377352878 | SFTPA2 | c.611C>A (p.Thr204Asn) c.662C>A (p.Thr221Asn) c.641C>A (p.Thr214Asn) | |
10 | g.79557346T>A | CA377352880 | SFTPA2 | c.610A>T (p.Thr204Ser) c.661A>T (p.Thr221Ser) c.640A>T (p.Thr214Ser) | |
10 | g.79557346T>C | CA377352881 | SFTPA2 | c.610A>G (p.Thr204Ala) c.661A>G (p.Thr221Ala) c.640A>G (p.Thr214Ala) | gnomAD v4 |
10 | g.79557346T>G | CA377352882 | SFTPA2 | c.610A>C (p.Thr204Pro) c.661A>C (p.Thr221Pro) c.640A>C (p.Thr214Pro) | gnomAD v4 |
10 | g.79557347C>A | CA470414518 | SFTPA2 | c.609G>T (p.Gly203=) c.660G>T (p.Gly220=) c.639G>T (p.Gly213=) | |
10 | g.79557347C>G | CA470414519 | SFTPA2 | c.609G>C (p.Gly203=) c.660G>C (p.Gly220=) c.639G>C (p.Gly213=) | |
10 | g.79557347C>T | CA470414520 | SFTPA2 | c.609G>A (p.Gly203=) c.660G>A (p.Gly220=) c.639G>A (p.Gly213=) | gnomAD v4 |
10 | g.79557348C>A | CA377352884 | SFTPA2 | c.608G>T (p.Gly203Val) c.659G>T (p.Gly220Val) c.638G>T (p.Gly213Val) | |
10 | g.79557348C= | CA1922240806 | SFTPA2 | c.608G= (p.Gly203=) c.659G= (p.Gly220=) c.638G= (p.Gly213=) | |
10 | g.79557348C>G | CA377352883 | SFTPA2 | c.608G>C (p.Gly203Ala) c.659G>C (p.Gly220Ala) c.638G>C (p.Gly213Ala) | |
10 | g.79557348C>T | CA5574000 | SFTPA2 | c.608G>A (p.Gly203Glu) c.659G>A (p.Gly220Glu) c.638G>A (p.Gly213Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557349C>A | CA377352885 | SFTPA2 | c.607G>T (p.Gly203Trp) c.658G>T (p.Gly220Trp) c.637G>T (p.Gly213Trp) | |
10 | g.79557349C>G | CA377352886 | SFTPA2 | c.607G>C (p.Gly203Arg) c.658G>C (p.Gly220Arg) c.637G>C (p.Gly213Arg) | |
10 | g.79557349C>T | CA377352887 | SFTPA2 | c.607G>A (p.Gly203Arg) c.658G>A (p.Gly220Arg) c.637G>A (p.Gly213Arg) | |
10 | g.79557350A= | CA1922240811 | SFTPA2 | c.606T= (p.Asp202=) c.657T= (p.Asp219=) c.636T= (p.Asp212=) | |
10 | g.79557350A>C | CA377352888 | SFTPA2 | c.606T>G (p.Asp202Glu) c.657T>G (p.Asp219Glu) c.636T>G (p.Asp212Glu) | gnomAD v4 |
10 | g.79557350A>G | CA5574001 | SFTPA2 | c.606T>C (p.Asp202=) c.657T>C (p.Asp219=) c.636T>C (p.Asp212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557350A>T | CA377352889 | SFTPA2 | c.606T>A (p.Asp202Glu) c.657T>A (p.Asp219Glu) c.636T>A (p.Asp212Glu) | gnomAD v4 |
10 | g.79557351T>A | CA377352890 | SFTPA2 | c.605A>T (p.Asp202Val) c.656A>T (p.Asp219Val) c.635A>T (p.Asp212Val) | |
10 | g.79557351T>C | CA377352892 | SFTPA2 | c.605A>G (p.Asp202Gly) c.656A>G (p.Asp219Gly) c.635A>G (p.Asp212Gly) | gnomAD v4 |
10 | g.79557351T>G | CA377352891 | SFTPA2 | c.605A>C (p.Asp202Ala) c.656A>C (p.Asp219Ala) c.635A>C (p.Asp212Ala) | gnomAD v4 |
10 | g.79557352C>A | CA377352893 | SFTPA2 | c.604G>T (p.Asp202Tyr) c.655G>T (p.Asp219Tyr) c.634G>T (p.Asp212Tyr) | gnomAD v4 |
10 | g.79557352C>G | CA377352894 | SFTPA2 | c.604G>C (p.Asp202His) c.655G>C (p.Asp219His) c.634G>C (p.Asp212His) | |
10 | g.79557352C>T | CA377352895 | SFTPA2 | c.604G>A (p.Asp202Asn) c.655G>A (p.Asp219Asn) c.634G>A (p.Asp212Asn) | gnomAD v4 |
10 | g.79557353T>A | CA470414521 | SFTPA2 | c.603A>T (p.Ser201=) c.654A>T (p.Ser218=) c.633A>T (p.Ser211=) | |
10 | g.79557353T>C | CA470414522 | SFTPA2 | c.603A>G (p.Ser201=) c.654A>G (p.Ser218=) c.633A>G (p.Ser211=) | gnomAD v4 |
10 | g.79557353T>G | CA470414523 | SFTPA2 | c.603A>C (p.Ser201=) c.654A>C (p.Ser218=) c.633A>C (p.Ser211=) | |
10 | g.79557354G>A | CA377352896 | SFTPA2 | c.602C>T (p.Ser201Leu) c.653C>T (p.Ser218Leu) c.632C>T (p.Ser211Leu) | |
10 | g.79557354G>C | CA377352897 | SFTPA2 | c.602C>G (p.Ser201Ter) c.653C>G (p.Ser218Ter) c.632C>G (p.Ser211Ter) | |
10 | g.79557354G>T | CA377352898 | SFTPA2 | c.602C>A (p.Ser201Ter) c.653C>A (p.Ser218Ter) c.632C>A (p.Ser211Ter) | |
10 | g.79557355A>C | CA377352899 | SFTPA2 | c.601T>G (p.Ser201Ala) c.652T>G (p.Ser218Ala) c.631T>G (p.Ser211Ala) | |
10 | g.79557355A>G | CA377352900 | SFTPA2 | c.601T>C (p.Ser201Pro) c.652T>C (p.Ser218Pro) c.631T>C (p.Ser211Pro) | |
10 | g.79557355A>T | CA377352901 | SFTPA2 | c.601T>A (p.Ser201Thr) c.652T>A (p.Ser218Thr) c.631T>A (p.Ser211Thr) | |
10 | g.79557356G>A | CA470414524 | SFTPA2 | c.600C>T (p.Tyr200=) c.651C>T (p.Tyr217=) c.630C>T (p.Tyr210=) | |
10 | g.79557356G>C | CA377352902 | SFTPA2 | c.600C>G (p.Tyr200Ter) c.651C>G (p.Tyr217Ter) c.630C>G (p.Tyr210Ter) | COSMIC |
10 | g.79557356G>T | CA377352903 | SFTPA2 | c.600C>A (p.Tyr200Ter) c.651C>A (p.Tyr217Ter) c.630C>A (p.Tyr210Ter) | |
10 | g.79557357T>A | CA5574002 | SFTPA2 | c.599A>T (p.Tyr200Phe) c.650A>T (p.Tyr217Phe) c.629A>T (p.Tyr210Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557357T>C | CA210248214 | SFTPA2 | c.599A>G (p.Tyr200Cys) c.650A>G (p.Tyr217Cys) c.629A>G (p.Tyr210Cys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557357T>G | CA377352904 | SFTPA2 | c.599A>C (p.Tyr200Ser) c.650A>C (p.Tyr217Ser) c.629A>C (p.Tyr210Ser) | |
10 | g.79557357T= | CA1922240814 | SFTPA2 | c.599A= (p.Tyr200=) c.650A= (p.Tyr217=) c.629A= (p.Tyr210=) | |
10 | g.79557358A>C | CA377352905 | SFTPA2 | c.598T>G (p.Tyr200Asp) c.649T>G (p.Tyr217Asp) c.628T>G (p.Tyr210Asp) | |
10 | g.79557358A>G | CA377352906 | SFTPA2 | c.598T>C (p.Tyr200His) c.649T>C (p.Tyr217His) c.628T>C (p.Tyr210His) | |
10 | g.79557358A>T | CA377352907 | SFTPA2 | c.598T>A (p.Tyr200Asn) c.649T>A (p.Tyr217Asn) c.628T>A (p.Tyr210Asn) | |
10 | g.79557359G>A | CA470414525 | SFTPA2 | c.597C>T (p.Arg199=) c.648C>T (p.Arg216=) c.627C>T (p.Arg209=) | |
10 | g.79557359G>C | CA470414526 | SFTPA2 | c.597C>G (p.Arg199=) c.648C>G (p.Arg216=) c.627C>G (p.Arg209=) | |
10 | g.79557359G>T | CA470414527 | SFTPA2 | c.597C>A (p.Arg199=) c.648C>A (p.Arg216=) c.627C>A (p.Arg209=) | |
10 | g.79557360C>A | CA377352908 | SFTPA2 | c.596G>T (p.Arg199Leu) c.647G>T (p.Arg216Leu) c.626G>T (p.Arg209Leu) | |
10 | g.79557360C= | CA1922240821 | SFTPA2 | c.596G= (p.Arg199=) c.647G= (p.Arg216=) c.626G= (p.Arg209=) | |
10 | g.79557360C>G | CA377352909 | SFTPA2 | c.596G>C (p.Arg199Pro) c.647G>C (p.Arg216Pro) c.626G>C (p.Arg209Pro) | |
10 | g.79557360C>T | CA5574003 | SFTPA2 | c.596G>A (p.Arg199His) c.647G>A (p.Arg216His) c.626G>A (p.Arg209His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557361G>A | CA5574004 | SFTPA2 | c.595C>T (p.Arg199Cys) c.646C>T (p.Arg216Cys) c.625C>T (p.Arg209Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557361G>C | CA377352910 | SFTPA2 | c.595C>G (p.Arg199Gly) c.646C>G (p.Arg216Gly) c.625C>G (p.Arg209Gly) | |
10 | g.79557361G= | CA1922240823 | SFTPA2 | c.595C= (p.Arg199=) c.646C= (p.Arg216=) c.625C= (p.Arg209=) | |
10 | g.79557361G>T | CA377352911 | SFTPA2 | c.595C>A (p.Arg199Ser) c.646C>A (p.Arg216Ser) c.625C>A (p.Arg209Ser) | |
10 | g.79557362G>A | CA470414528 | SFTPA2 | c.594C>T (p.Phe198=) c.645C>T (p.Phe215=) c.624C>T (p.Phe208=) | dbSNP COSMIC |
10 | g.79557362G>C | CA377352912 | SFTPA2 | c.594C>G (p.Phe198Leu) c.645C>G (p.Phe215Leu) c.624C>G (p.Phe208Leu) | |
10 | g.79557362G>T | CA377352913 | SFTPA2 | c.594C>A (p.Phe198Leu) c.645C>A (p.Phe215Leu) c.624C>A (p.Phe208Leu) | |
10 | g.79557363A= | CA1922240827 | SFTPA2 | c.593T= (p.Phe198=) c.644T= (p.Phe215=) c.623T= (p.Phe208=) | |
10 | g.79557363A>C | CA377352914 | SFTPA2 | c.593T>G (p.Phe198Cys) c.644T>G (p.Phe215Cys) c.623T>G (p.Phe208Cys) | |
10 | g.79557363A>G | CA256738 | SFTPA2 | c.593T>C (p.Phe198Ser) c.644T>C (p.Phe215Ser) c.623T>C (p.Phe208Ser) | ClinVar dbSNP |
10 | g.79557363A>T | CA377352915 | SFTPA2 | c.593T>A (p.Phe198Tyr) c.644T>A (p.Phe215Tyr) c.623T>A (p.Phe208Tyr) | |
10 | g.79557364A>C | CA377352916 | SFTPA2 | c.592T>G (p.Phe198Val) c.643T>G (p.Phe215Val) c.622T>G (p.Phe208Val) | |
10 | g.79557364A>G | CA377352918 | SFTPA2 | c.592T>C (p.Phe198Leu) c.643T>C (p.Phe215Leu) c.622T>C (p.Phe208Leu) | |
10 | g.79557364A>T | CA377352917 | SFTPA2 | c.592T>A (p.Phe198Ile) c.643T>A (p.Phe215Ile) c.622T>A (p.Phe208Ile) | |
10 | g.79557365G>A | CA470414529 | SFTPA2 | c.591C>T (p.Asp197=) c.642C>T (p.Asp214=) c.621C>T (p.Asp207=) | gnomAD v4 |
10 | g.79557365G>C | CA377352919 | SFTPA2 | c.591C>G (p.Asp197Glu) c.642C>G (p.Asp214Glu) c.621C>G (p.Asp207Glu) | |
10 | g.79557365G>T | CA377352920 | SFTPA2 | c.591C>A (p.Asp197Glu) c.642C>A (p.Asp214Glu) c.621C>A (p.Asp207Glu) | |
10 | g.79557366T>A | CA377352921 | SFTPA2 | c.590A>T (p.Asp197Val) c.641A>T (p.Asp214Val) c.620A>T (p.Asp207Val) | |
10 | g.79557366T>C | CA5574005 | SFTPA2 | c.590A>G (p.Asp197Gly) c.641A>G (p.Asp214Gly) c.620A>G (p.Asp207Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557366T>G | CA377352922 | SFTPA2 | c.590A>C (p.Asp197Ala) c.641A>C (p.Asp214Ala) c.620A>C (p.Asp207Ala) | |
10 | g.79557366T= | CA1922240832 | SFTPA2 | c.590A= (p.Asp197=) c.641A= (p.Asp214=) c.620A= (p.Asp207=) | |
10 | g.79557367C>A | CA377352923 | SFTPA2 | c.589G>T (p.Asp197Tyr) c.640G>T (p.Asp214Tyr) c.619G>T (p.Asp207Tyr) | dbSNP gnomAD v4 |
10 | g.79557367C= | CA1922240834 | SFTPA2 | c.589G= (p.Asp197=) c.640G= (p.Asp214=) c.619G= (p.Asp207=) | |
10 | g.79557367C>G | CA377352924 | SFTPA2 | c.589G>C (p.Asp197His) c.640G>C (p.Asp214His) c.619G>C (p.Asp207His) | |
10 | g.79557367C>T | CA377352925 | SFTPA2 | c.589G>A (p.Asp197Asn) c.640G>A (p.Asp214Asn) c.619G>A (p.Asp207Asn) | |
10 | g.79557368T>A | CA470414530 | SFTPA2 | c.588A>T (p.Gly196=) c.639A>T (p.Gly213=) c.618A>T (p.Gly206=) | |
10 | g.79557368T>C | CA5574006 | SFTPA2 | c.588A>G (p.Gly196=) c.639A>G (p.Gly213=) c.618A>G (p.Gly206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557368T>G | CA470414531 | SFTPA2 | c.588A>C (p.Gly196=) c.639A>C (p.Gly213=) c.618A>C (p.Gly206=) | |
10 | g.79557368T= | CA1922240838 | SFTPA2 | c.588A= (p.Gly196=) c.639A= (p.Gly213=) c.618A= (p.Gly206=) | |
10 | g.79557369C>A | CA5574007 | SFTPA2 | c.587G>T (p.Gly196Val) c.638G>T (p.Gly213Val) c.617G>T (p.Gly206Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557369C= | CA1922240842 | SFTPA2 | c.587G= (p.Gly196=) c.638G= (p.Gly213=) c.617G= (p.Gly206=) | |
10 | g.79557369C>G | CA377352926 | SFTPA2 | c.587G>C (p.Gly196Ala) c.638G>C (p.Gly213Ala) c.617G>C (p.Gly206Ala) | |
10 | g.79557369C>T | CA377352927 | SFTPA2 | c.587G>A (p.Gly196Glu) c.638G>A (p.Gly213Glu) c.617G>A (p.Gly206Glu) | |
10 | g.79557370C>A | CA377352929 | SFTPA2 | c.586G>T (p.Gly196Ter) c.637G>T (p.Gly213Ter) c.616G>T (p.Gly206Ter) | |
10 | g.79557370C>G | CA377352930 | SFTPA2 | c.586G>C (p.Gly196Arg) c.637G>C (p.Gly213Arg) c.616G>C (p.Gly206Arg) | |
10 | g.79557370C>T | CA377352928 | SFTPA2 | c.586G>A (p.Gly196Arg) c.637G>A (p.Gly213Arg) c.616G>A (p.Gly206Arg) | |
10 | g.79557371A>C | CA470414532 | SFTPA2 | c.585T>G (p.Pro195=) c.636T>G (p.Pro212=) c.615T>G (p.Pro205=) | gnomAD v4 |
10 | g.79557371A>G | CA470414533 | SFTPA2 | c.585T>C (p.Pro195=) c.636T>C (p.Pro212=) c.615T>C (p.Pro205=) | |
10 | g.79557371A>T | CA470414534 | SFTPA2 | c.585T>A (p.Pro195=) c.636T>A (p.Pro212=) c.615T>A (p.Pro205=) | |
10 | g.79557372G>A | CA377352932 | SFTPA2 | c.584C>T (p.Pro195Leu) c.635C>T (p.Pro212Leu) c.614C>T (p.Pro205Leu) | |
10 | g.79557372G>C | CA377352931 | SFTPA2 | c.584C>G (p.Pro195Arg) c.635C>G (p.Pro212Arg) c.614C>G (p.Pro205Arg) | |
10 | g.79557372G>T | CA377352933 | SFTPA2 | c.584C>A (p.Pro195His) c.635C>A (p.Pro212His) c.614C>A (p.Pro205His) | dbSNP |
10 | g.79557373G>A | CA210248228 | SFTPA2 | c.583C>T (p.Pro195Ser) c.634C>T (p.Pro212Ser) c.613C>T (p.Pro205Ser) | dbSNP gnomAD v4 COSMIC |
10 | g.79557373G>C | CA377352934 | SFTPA2 | c.583C>G (p.Pro195Ala) c.634C>G (p.Pro212Ala) c.613C>G (p.Pro205Ala) | |
10 | g.79557373G= | CA1922240846 | SFTPA2 | c.583C= (p.Pro195=) c.634C= (p.Pro212=) c.613C= (p.Pro205=) | |
10 | g.79557373G>T | CA377352935 | SFTPA2 | c.583C>A (p.Pro195Thr) c.634C>A (p.Pro212Thr) c.613C>A (p.Pro205Thr) | |
10 | g.79557374G>A | CA470414535 | SFTPA2 | c.582C>T (p.Ser194=) c.633C>T (p.Ser211=) c.612C>T (p.Ser204=) | |
10 | g.79557374G>C | CA377352936 | SFTPA2 | c.582C>G (p.Ser194Arg) c.633C>G (p.Ser211Arg) c.612C>G (p.Ser204Arg) | |
10 | g.79557374G>T | CA377352937 | SFTPA2 | c.582C>A (p.Ser194Arg) c.633C>A (p.Ser211Arg) c.612C>A (p.Ser204Arg) | |
10 | g.79557375C>A | CA377352940 | SFTPA2 | c.581G>T (p.Ser194Ile) c.632G>T (p.Ser211Ile) c.611G>T (p.Ser204Ile) | |
10 | g.79557375C>G | CA377352939 | SFTPA2 | c.581G>C (p.Ser194Thr) c.632G>C (p.Ser211Thr) c.611G>C (p.Ser204Thr) | |
10 | g.79557375C>T | CA377352938 | SFTPA2 | c.581G>A (p.Ser194Asn) c.632G>A (p.Ser211Asn) c.611G>A (p.Ser204Asn) | |
10 | g.79557376T>A | CA377352941 | SFTPA2 | c.580A>T (p.Ser194Cys) c.631A>T (p.Ser211Cys) c.610A>T (p.Ser204Cys) | |
10 | g.79557376T>C | CA377352942 | SFTPA2 | c.580A>G (p.Ser194Gly) c.631A>G (p.Ser211Gly) c.610A>G (p.Ser204Gly) | |
10 | g.79557376T>G | CA377352943 | SFTPA2 | c.580A>C (p.Ser194Arg) c.631A>C (p.Ser211Arg) c.610A>C (p.Ser204Arg) | |
10 | g.79557377G>A | CA470414536 | SFTPA2 | c.579C>T (p.Pro193=) c.630C>T (p.Pro210=) c.609C>T (p.Pro203=) | |
10 | g.79557377G>C | CA470414537 | SFTPA2 | c.579C>G (p.Pro193=) c.630C>G (p.Pro210=) c.609C>G (p.Pro203=) | |
10 | g.79557377G>T | CA470414538 | SFTPA2 | c.579C>A (p.Pro193=) c.630C>A (p.Pro210=) c.609C>A (p.Pro203=) | |
10 | g.79557378G>A | CA377352944 | SFTPA2 | c.578C>T (p.Pro193Leu) c.629C>T (p.Pro210Leu) c.608C>T (p.Pro203Leu) | COSMIC |
10 | g.79557378G>C | CA377352945 | SFTPA2 | c.578C>G (p.Pro193Arg) c.629C>G (p.Pro210Arg) c.608C>G (p.Pro203Arg) | |
10 | g.79557378G>T | CA377352946 | SFTPA2 | c.578C>A (p.Pro193His) c.629C>A (p.Pro210His) c.608C>A (p.Pro203His) | |
10 | g.79557379G>A | CA377352947 | SFTPA2 | c.577C>T (p.Pro193Ser) c.628C>T (p.Pro210Ser) c.607C>T (p.Pro203Ser) | gnomAD v4 COSMIC |
10 | g.79557379G>C | CA377352949 | SFTPA2 | c.577C>G (p.Pro193Ala) c.628C>G (p.Pro210Ala) c.607C>G (p.Pro203Ala) | |
10 | g.79557379G>T | CA377352948 | SFTPA2 | c.577C>A (p.Pro193Thr) c.628C>A (p.Pro210Thr) c.607C>A (p.Pro203Thr) | |
10 | g.79557380A>C | CA470414539 | SFTPA2 | c.576T>G (p.Gly192=) c.627T>G (p.Gly209=) c.606T>G (p.Gly202=) | |
10 | g.79557380A>G | CA470414540 | SFTPA2 | c.576T>C (p.Gly192=) c.627T>C (p.Gly209=) c.606T>C (p.Gly202=) | |
10 | g.79557380A>T | CA470414541 | SFTPA2 | c.576T>A (p.Gly192=) c.627T>A (p.Gly209=) c.606T>A (p.Gly202=) | |
10 | g.79557381C>A | CA377352950 | SFTPA2 | c.575G>T (p.Gly192Val) c.626G>T (p.Gly209Val) c.605G>T (p.Gly202Val) | gnomAD v4 |
10 | g.79557381C>G | CA377352951 | SFTPA2 | c.575G>C (p.Gly192Ala) c.626G>C (p.Gly209Ala) c.605G>C (p.Gly202Ala) | |
10 | g.79557381C>T | CA377352952 | SFTPA2 | c.575G>A (p.Gly192Asp) c.626G>A (p.Gly209Asp) c.605G>A (p.Gly202Asp) | |
10 | g.79557382C>A | CA377352953 | SFTPA2 | c.574G>T (p.Gly192Cys) c.625G>T (p.Gly209Cys) c.604G>T (p.Gly202Cys) | gnomAD v4 |
10 | g.79557382C= | CA1922240852 | SFTPA2 | c.574G= (p.Gly192=) c.625G= (p.Gly209=) c.604G= (p.Gly202=) | |
10 | g.79557382C>G | CA377352954 | SFTPA2 | c.574G>C (p.Gly192Arg) c.625G>C (p.Gly209Arg) c.604G>C (p.Gly202Arg) | |
10 | g.79557382C>T | CA377352955 | SFTPA2 | c.574G>A (p.Gly192Ser) c.625G>A (p.Gly209Ser) c.604G>A (p.Gly202Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.79557383C>A | CA377352956 | SFTPA2 | c.573G>T (p.Glu191Asp) c.624G>T (p.Glu208Asp) c.603G>T (p.Glu201Asp) | |
10 | g.79557383C>G | CA377352957 | SFTPA2 | c.573G>C (p.Glu191Asp) c.624G>C (p.Glu208Asp) c.603G>C (p.Glu201Asp) | |
10 | g.79557383C>T | CA470414542 | SFTPA2 | c.573G>A (p.Glu191=) c.624G>A (p.Glu208=) c.603G>A (p.Glu201=) | |
10 | g.79557384T>A | CA377352958 | SFTPA2 | c.572A>T (p.Glu191Val) c.623A>T (p.Glu208Val) c.602A>T (p.Glu201Val) | |
10 | g.79557384T>C | CA377352959 | SFTPA2 | c.572A>G (p.Glu191Gly) c.623A>G (p.Glu208Gly) c.602A>G (p.Glu201Gly) | |
10 | g.79557384T>G | CA377352960 | SFTPA2 | c.572A>C (p.Glu191Ala) c.623A>C (p.Glu208Ala) c.602A>C (p.Glu201Ala) | |
10 | g.79557385C>A | CA377352963 | SFTPA2 | c.571G>T (p.Glu191Ter) c.622G>T (p.Glu208Ter) c.601G>T (p.Glu201Ter) | |
10 | g.79557385C= | CA1922240857 | SFTPA2 | c.571G= (p.Glu191=) c.622G= (p.Glu208=) c.601G= (p.Glu201=) | |
10 | g.79557385C>G | CA377352962 | SFTPA2 | c.571G>C (p.Glu191Gln) c.622G>C (p.Glu208Gln) c.601G>C (p.Glu201Gln) | |
10 | g.79557385C>T | CA377352961 | SFTPA2 | c.571G>A (p.Glu191Lys) c.622G>A (p.Glu208Lys) c.601G>A (p.Glu201Lys) | gnomAD v4 |
10 | g.79557386A>C | CA470414543 | SFTPA2 | c.570T>G (p.Thr190=) c.621T>G (p.Thr207=) c.600T>G (p.Thr200=) | |
10 | g.79557386A>G | CA470414544 | SFTPA2 | c.570T>C (p.Thr190=) c.621T>C (p.Thr207=) c.600T>C (p.Thr200=) | COSMIC |
10 | g.79557386A>T | CA470414545 | SFTPA2 | c.570T>A (p.Thr190=) c.621T>A (p.Thr207=) c.600T>A (p.Thr200=) | gnomAD v4 |
10 | g.79557386dup | CA5574008 | SFTPA2 | c.570dup (p.Glu191Ter) c.621dup (p.Glu208Ter) c.600dup (p.Glu201Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557387G>A | CA377352964 | SFTPA2 | c.569C>T (p.Thr190Ile) c.620C>T (p.Thr207Ile) c.599C>T (p.Thr200Ile) | |
10 | g.79557387G>C | CA377352965 | SFTPA2 | c.569C>G (p.Thr190Ser) c.620C>G (p.Thr207Ser) c.599C>G (p.Thr200Ser) | |
10 | g.79557387G>T | CA377352966 | SFTPA2 | c.569C>A (p.Thr190Asn) c.620C>A (p.Thr207Asn) c.599C>A (p.Thr200Asn) | |
10 | g.79557388T>A | CA377352967 | SFTPA2 | c.568A>T (p.Thr190Ser) c.619A>T (p.Thr207Ser) c.598A>T (p.Thr200Ser) | |
10 | g.79557388T>C | CA377352968 | SFTPA2 | c.568A>G (p.Thr190Ala) c.619A>G (p.Thr207Ala) c.598A>G (p.Thr200Ala) | |
10 | g.79557388T>G | CA377352969 | SFTPA2 | c.568A>C (p.Thr190Pro) c.619A>C (p.Thr207Pro) c.598A>C (p.Thr200Pro) | |
10 | g.79557389C>A | CA470414546 | SFTPA2 | c.567G>T (p.Leu189=) c.618G>T (p.Leu206=) c.597G>T (p.Leu199=) | gnomAD v4 |
10 | g.79557389C= | CA1922240861 | SFTPA2 | c.567G= (p.Leu189=) c.618G= (p.Leu206=) c.597G= (p.Leu199=) | |
10 | g.79557389C>G | CA470414547 | SFTPA2 | c.567G>C (p.Leu189=) c.618G>C (p.Leu206=) c.597G>C (p.Leu199=) | |
10 | g.79557389C>T | CA5574009 | SFTPA2 | c.567G>A (p.Leu189=) c.618G>A (p.Leu206=) c.597G>A (p.Leu199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557390A>C | CA377352970 | SFTPA2 | c.566T>G (p.Leu189Arg) c.617T>G (p.Leu206Arg) c.596T>G (p.Leu199Arg) | |
10 | g.79557390A>G | CA377352971 | SFTPA2 | c.566T>C (p.Leu189Pro) c.617T>C (p.Leu206Pro) c.596T>C (p.Leu199Pro) | |
10 | g.79557390A>T | CA377352972 | SFTPA2 | c.566T>A (p.Leu189Gln) c.617T>A (p.Leu206Gln) c.596T>A (p.Leu199Gln) | |
10 | g.79557391G>A | CA470414548 | SFTPA2 | c.565C>T (p.Leu189=) c.616C>T (p.Leu206=) c.595C>T (p.Leu199=) | gnomAD v4 |
10 | g.79557391G>C | CA377352973 | SFTPA2 | c.565C>G (p.Leu189Val) c.616C>G (p.Leu206Val) c.595C>G (p.Leu199Val) | |
10 | g.79557391G>T | CA377352974 | SFTPA2 | c.565C>A (p.Leu189Met) c.616C>A (p.Leu206Met) c.595C>A (p.Leu199Met) | |
10 | g.79557392G>A | CA5574010 | SFTPA2 | c.564C>T (p.Gly188=) c.615C>T (p.Gly205=) c.594C>T (p.Gly198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557392G>C | CA470414549 | SFTPA2 | c.564C>G (p.Gly188=) c.615C>G (p.Gly205=) c.594C>G (p.Gly198=) | |
10 | g.79557392G= | CA1922240865 | SFTPA2 | c.564C= (p.Gly188=) c.615C= (p.Gly205=) c.594C= (p.Gly198=) | |
10 | g.79557392G>T | CA470414550 | SFTPA2 | c.564C>A (p.Gly188=) c.615C>A (p.Gly205=) c.594C>A (p.Gly198=) | |
10 | g.79557393C>A | CA377352975 | SFTPA2 | c.563G>T (p.Gly188Val) c.614G>T (p.Gly205Val) c.593G>T (p.Gly198Val) | |
10 | g.79557393C>G | CA377352977 | SFTPA2 | c.563G>C (p.Gly188Ala) c.614G>C (p.Gly205Ala) c.593G>C (p.Gly198Ala) | |
10 | g.79557393C>T | CA377352976 | SFTPA2 | c.563G>A (p.Gly188Asp) c.614G>A (p.Gly205Asp) c.593G>A (p.Gly198Asp) | gnomAD v4 |
10 | g.79557394C>A | CA377352978 | SFTPA2 | c.562G>T (p.Gly188Cys) c.613G>T (p.Gly205Cys) c.592G>T (p.Gly198Cys) | |
10 | g.79557394C>G | CA377352979 | SFTPA2 | c.562G>C (p.Gly188Arg) c.613G>C (p.Gly205Arg) c.592G>C (p.Gly198Arg) | |
10 | g.79557394C>T | CA377352980 | SFTPA2 | c.562G>A (p.Gly188Ser) c.613G>A (p.Gly205Ser) c.592G>A (p.Gly198Ser) | |
10 | g.79557395T>A | CA470414551 | SFTPA2 | c.561A>T (p.Val187=) c.612A>T (p.Val204=) c.591A>T (p.Val197=) | dbSNP |
10 | g.79557395T>C | CA470414553 | SFTPA2 | c.561A>G (p.Val187=) c.612A>G (p.Val204=) c.591A>G (p.Val197=) | |
10 | g.79557395T>G | CA470414552 | SFTPA2 | c.561A>C (p.Val187=) c.612A>C (p.Val204=) c.591A>C (p.Val197=) | |
10 | g.79557395T= | CA1922240867 | SFTPA2 | c.561A= (p.Val187=) c.612A= (p.Val204=) c.591A= (p.Val197=) | |
10 | g.79557396A>C | CA377352981 | SFTPA2 | c.560T>G (p.Val187Gly) c.611T>G (p.Val204Gly) c.590T>G (p.Val197Gly) | |
10 | g.79557396A>G | CA377352982 | SFTPA2 | c.560T>C (p.Val187Ala) c.611T>C (p.Val204Ala) c.590T>C (p.Val197Ala) | |
10 | g.79557396A>T | CA377352983 | SFTPA2 | c.560T>A (p.Val187Glu) c.611T>A (p.Val204Glu) c.590T>A (p.Val197Glu) | |
10 | g.79557397C>A | CA377352984 | SFTPA2 | c.559G>T (p.Val187Leu) c.610G>T (p.Val204Leu) c.589G>T (p.Val197Leu) | |
10 | g.79557397C= | CA1922240870 | SFTPA2 | c.559G= (p.Val187=) c.610G= (p.Val204=) c.589G= (p.Val197=) | |
10 | g.79557397C>G | CA377352985 | SFTPA2 | c.559G>C (p.Val187Leu) c.610G>C (p.Val204Leu) c.589G>C (p.Val197Leu) | |
10 | g.79557397C>T | CA5574011 | SFTPA2 | c.559G>A (p.Val187Ile) c.610G>A (p.Val204Ile) c.589G>A (p.Val197Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557398A>C | CA377352986 | SFTPA2 | c.558T>G (p.Tyr186Ter) c.609T>G (p.Tyr203Ter) c.588T>G (p.Tyr196Ter) | |
10 | g.79557398A>G | CA470414554 | SFTPA2 | c.558T>C (p.Tyr186=) c.609T>C (p.Tyr203=) c.588T>C (p.Tyr196=) | |
10 | g.79557398A>T | CA377352987 | SFTPA2 | c.558T>A (p.Tyr186Ter) c.609T>A (p.Tyr203Ter) c.588T>A (p.Tyr196Ter) | gnomAD v4 |
10 | g.79557399T>A | CA377352990 | SFTPA2 | c.557A>T (p.Tyr186Phe) c.608A>T (p.Tyr203Phe) c.587A>T (p.Tyr196Phe) | dbSNP gnomAD v4 |
10 | g.79557399T>C | CA377352989 | SFTPA2 | c.557A>G (p.Tyr186Cys) c.608A>G (p.Tyr203Cys) c.587A>G (p.Tyr196Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557399T>G | CA377352988 | SFTPA2 | c.557A>C (p.Tyr186Ser) c.608A>C (p.Tyr203Ser) c.587A>C (p.Tyr196Ser) | |
10 | g.79557399T= | CA1922240874 | SFTPA2 | c.557A= (p.Tyr186=) c.608A= (p.Tyr203=) c.587A= (p.Tyr196=) | |
10 | g.79557400A>C | CA377352991 | SFTPA2 | c.556T>G (p.Tyr186Asp) c.607T>G (p.Tyr203Asp) c.586T>G (p.Tyr196Asp) | |
10 | g.79557400A>G | CA377352992 | SFTPA2 | c.556T>C (p.Tyr186His) c.607T>C (p.Tyr203His) c.586T>C (p.Tyr196His) | |
10 | g.79557400A>T | CA377352993 | SFTPA2 | c.556T>A (p.Tyr186Asn) c.607T>A (p.Tyr203Asn) c.586T>A (p.Tyr196Asn) | |
10 | g.79557401G>A | CA5574012 | SFTPA2 | c.555C>T (p.Ala185=) c.606C>T (p.Ala202=) c.585C>T (p.Ala195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557401G>C | CA470414566 | SFTPA2 | c.555C>G (p.Ala185=) c.606C>G (p.Ala202=) c.585C>G (p.Ala195=) | |
10 | g.79557401G= | CA1922240878 | SFTPA2 | c.555C= (p.Ala185=) c.606C= (p.Ala202=) c.585C= (p.Ala195=) | |
10 | g.79557401G>T | CA470414567 | SFTPA2 | c.555C>A (p.Ala185=) c.606C>A (p.Ala202=) c.585C>A (p.Ala195=) | gnomAD v4 |
10 | g.79557402G>A | CA377352994 | SFTPA2 | c.554C>T (p.Ala185Val) c.605C>T (p.Ala202Val) c.584C>T (p.Ala195Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557402G>C | CA377352995 | SFTPA2 | c.554C>G (p.Ala185Gly) c.605C>G (p.Ala202Gly) c.584C>G (p.Ala195Gly) | |
10 | g.79557402G= | CA1922240881 | SFTPA2 | c.554C= (p.Ala185=) c.605C= (p.Ala202=) c.584C= (p.Ala195=) | |
10 | g.79557402G>T | CA377352996 | SFTPA2 | c.554C>A (p.Ala185Asp) c.605C>A (p.Ala202Asp) c.584C>A (p.Ala195Asp) | |
10 | g.79557403C>A | CA377352997 | SFTPA2 | c.553G>T (p.Ala185Ser) c.604G>T (p.Ala202Ser) c.583G>T (p.Ala195Ser) | |
10 | g.79557403C>G | CA377352998 | SFTPA2 | c.553G>C (p.Ala185Pro) c.604G>C (p.Ala202Pro) c.583G>C (p.Ala195Pro) | |
10 | g.79557403C>T | CA377352999 | SFTPA2 | c.553G>A (p.Ala185Thr) c.604G>A (p.Ala202Thr) c.583G>A (p.Ala195Thr) | gnomAD v4 |
10 | g.79557403_79557404delinsCA | CA1922240884 | SFTPA2 | c.552_553delinsTG (p.Tyr184=) c.603_604delinsTG (p.Tyr201=) c.582_583delinsTG (p.Tyr194=) | |
10 | g.79557404del | CA5574013 | SFTPA2 | c.552del (p.Tyr184Ter) c.603del (p.Tyr201Ter) c.582del (p.Tyr194Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557404A= | CA1922240886 | SFTPA2 | c.552T= (p.Tyr184=) c.603T= (p.Tyr201=) c.582T= (p.Tyr194=) | |
10 | g.79557404A>C | CA377353000 | SFTPA2 | c.552T>G (p.Tyr184Ter) c.603T>G (p.Tyr201Ter) c.582T>G (p.Tyr194Ter) | |
10 | g.79557404A>G | CA5574014 | SFTPA2 | c.552T>C (p.Tyr184=) c.603T>C (p.Tyr201=) c.582T>C (p.Tyr194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557404A>T | CA377353001 | SFTPA2 | c.552T>A (p.Tyr184Ter) c.603T>A (p.Tyr201Ter) c.582T>A (p.Tyr194Ter) | |
10 | g.79557405T>A | CA377353004 | SFTPA2 | c.551A>T (p.Tyr184Phe) c.602A>T (p.Tyr201Phe) c.581A>T (p.Tyr194Phe) | |
10 | g.79557405T>C | CA377353003 | SFTPA2 | c.551A>G (p.Tyr184Cys) c.602A>G (p.Tyr201Cys) c.581A>G (p.Tyr194Cys) | |
10 | g.79557405T>G | CA377353002 | SFTPA2 | c.551A>C (p.Tyr184Ser) c.602A>C (p.Tyr201Ser) c.581A>C (p.Tyr194Ser) | |
10 | g.79557406A>C | CA377353005 | SFTPA2 | c.550T>G (p.Tyr184Asp) c.601T>G (p.Tyr201Asp) c.580T>G (p.Tyr194Asp) | |
10 | g.79557406A>G | CA377353006 | SFTPA2 | c.550T>C (p.Tyr184His) c.601T>C (p.Tyr201His) c.580T>C (p.Tyr194His) | gnomAD v4 |
10 | g.79557406A>T | CA377353007 | SFTPA2 | c.550T>A (p.Tyr184Asn) c.601T>A (p.Tyr201Asn) c.580T>A (p.Tyr194Asn) | |
10 | g.79557407T>A | CA470414568 | SFTPA2 | c.549A>T (p.Thr183=) c.600A>T (p.Thr200=) c.579A>T (p.Thr193=) | |
10 | g.79557407T>C | CA470414569 | SFTPA2 | c.549A>G (p.Thr183=) c.600A>G (p.Thr200=) c.579A>G (p.Thr193=) | |
10 | g.79557407T>G | CA470414570 | SFTPA2 | c.549A>C (p.Thr183=) c.600A>C (p.Thr200=) c.579A>C (p.Thr193=) | |
10 | g.79557408G>A | CA377353008 | SFTPA2 | c.548C>T (p.Thr183Ile) c.599C>T (p.Thr200Ile) c.578C>T (p.Thr193Ile) | |
10 | g.79557408G>C | CA377353009 | SFTPA2 | c.548C>G (p.Thr183Arg) c.599C>G (p.Thr200Arg) c.578C>G (p.Thr193Arg) | gnomAD v4 |
10 | g.79557408G>T | CA377353010 | SFTPA2 | c.548C>A (p.Thr183Lys) c.599C>A (p.Thr200Lys) c.578C>A (p.Thr193Lys) | |
10 | g.79557409T>A | CA377353011 | SFTPA2 | c.547A>T (p.Thr183Ser) c.598A>T (p.Thr200Ser) c.577A>T (p.Thr193Ser) | |
10 | g.79557409T>C | CA377353012 | SFTPA2 | c.547A>G (p.Thr183Ala) c.598A>G (p.Thr200Ala) c.577A>G (p.Thr193Ala) | |
10 | g.79557409T>G | CA377353013 | SFTPA2 | c.547A>C (p.Thr183Pro) c.598A>C (p.Thr200Pro) c.577A>C (p.Thr193Pro) | |
10 | g.79557410G>A | CA470414572 | SFTPA2 | c.546C>T (p.Asn182=) c.597C>T (p.Asn199=) c.576C>T (p.Asn192=) | |
10 | g.79557410G>C | CA377353014 | SFTPA2 | c.546C>G (p.Asn182Lys) c.597C>G (p.Asn199Lys) c.576C>G (p.Asn192Lys) | |
10 | g.79557410G>T | CA377353015 | SFTPA2 | c.546C>A (p.Asn182Lys) c.597C>A (p.Asn199Lys) c.576C>A (p.Asn192Lys) | gnomAD v4 |
10 | g.79557411T>A | CA377353016 | SFTPA2 | c.545A>T (p.Asn182Ile) c.596A>T (p.Asn199Ile) c.575A>T (p.Asn192Ile) | |
10 | g.79557411T>C | CA377353017 | SFTPA2 | c.545A>G (p.Asn182Ser) c.596A>G (p.Asn199Ser) c.575A>G (p.Asn192Ser) | COSMIC |
10 | g.79557411T>G | CA377353018 | SFTPA2 | c.545A>C (p.Asn182Thr) c.596A>C (p.Asn199Thr) c.575A>C (p.Asn192Thr) | |
10 | g.79557412T>A | CA377353020 | SFTPA2 | c.544A>T (p.Asn182Tyr) c.595A>T (p.Asn199Tyr) c.574A>T (p.Asn192Tyr) | |
10 | g.79557412T>C | CA5574015 | SFTPA2 | c.544A>G (p.Asn182Asp) c.595A>G (p.Asn199Asp) c.574A>G (p.Asn192Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557412T>G | CA377353019 | SFTPA2 | c.544A>C (p.Asn182His) c.595A>C (p.Asn199His) c.574A>C (p.Asn192His) | gnomAD v4 |
10 | g.79557412T= | CA1922240889 | SFTPA2 | c.544A= (p.Asn182=) c.595A= (p.Asn199=) c.574A= (p.Asn192=) | |
10 | g.79557413G>A | CA470414573 | SFTPA2 | c.543C>T (p.Tyr181=) c.594C>T (p.Tyr198=) c.573C>T (p.Tyr191=) | |
10 | g.79557413G>C | CA377353021 | SFTPA2 | c.543C>G (p.Tyr181Ter) c.594C>G (p.Tyr198Ter) c.573C>G (p.Tyr191Ter) | |
10 | g.79557413G= | CA1922240892 | SFTPA2 | c.543C= (p.Tyr181=) c.594C= (p.Tyr198=) c.573C= (p.Tyr191=) | |
10 | g.79557413G>T | CA377353022 | SFTPA2 | c.543C>A (p.Tyr181Ter) c.594C>A (p.Tyr198Ter) c.573C>A (p.Tyr191Ter) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557414T>A | CA377353023 | SFTPA2 | c.542A>T (p.Tyr181Phe) c.593A>T (p.Tyr198Phe) c.572A>T (p.Tyr191Phe) | |
10 | g.79557414T>C | CA210248291 | SFTPA2 | c.542A>G (p.Tyr181Cys) c.593A>G (p.Tyr198Cys) c.572A>G (p.Tyr191Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557414T>G | CA377353024 | SFTPA2 | c.542A>C (p.Tyr181Ser) c.593A>C (p.Tyr198Ser) c.572A>C (p.Tyr191Ser) | gnomAD v4 |
10 | g.79557414T= | CA1922240894 | SFTPA2 | c.542A= (p.Tyr181=) c.593A= (p.Tyr198=) c.572A= (p.Tyr191=) | |
10 | g.79557415A>C | CA377353025 | SFTPA2 | c.541T>G (p.Tyr181Asp) c.592T>G (p.Tyr198Asp) c.571T>G (p.Tyr191Asp) | |
10 | g.79557415A>G | CA377353026 | SFTPA2 | c.541T>C (p.Tyr181His) c.592T>C (p.Tyr198His) c.571T>C (p.Tyr191His) | |
10 | g.79557415A>T | CA377353027 | SFTPA2 | c.541T>A (p.Tyr181Asn) c.592T>A (p.Tyr198Asn) c.571T>A (p.Tyr191Asn) | |
10 | g.79557415_79557418delinsACTT | CA1922240896 | SFTPA2 | c.538_541delinsAAGT (p.Lys180=) c.589_592delinsAAGT (p.Lys197=) c.568_571delinsAAGT (p.Lys190=) | |
10 | g.79557416C>A | CA377353028 | SFTPA2 | c.540G>T (p.Lys180Asn) c.591G>T (p.Lys197Asn) c.570G>T (p.Lys190Asn) | |
10 | g.79557416C= | CA1922240900 | SFTPA2 | c.540G= (p.Lys180=) c.591G= (p.Lys197=) c.570G= (p.Lys190=) | |
10 | g.79557416C>G | CA377353029 | SFTPA2 | c.540G>C (p.Lys180Asn) c.591G>C (p.Lys197Asn) c.570G>C (p.Lys190Asn) | |
10 | g.79557416C>T | CA470414574 | SFTPA2 | c.540G>A (p.Lys180=) c.591G>A (p.Lys197=) c.570G>A (p.Lys190=) | dbSNP gnomAD v4 |
10 | g.79557420_79557422del | CA1922240899 | SFTPA2 | c.538_540del (p.Lys180del) c.589_591del (p.Lys197del) c.568_570del (p.Lys190del) | dbSNP |
10 | g.79557417T>A | CA377353030 | SFTPA2 | c.539A>T (p.Lys180Met) c.590A>T (p.Lys197Met) c.569A>T (p.Lys190Met) | |
10 | g.79557417T>C | CA210248293 | SFTPA2 | c.539A>G (p.Lys180Arg) c.590A>G (p.Lys197Arg) c.569A>G (p.Lys190Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557417T>G | CA377353031 | SFTPA2 | c.539A>C (p.Lys180Thr) c.590A>C (p.Lys197Thr) c.569A>C (p.Lys190Thr) | gnomAD v4 |
10 | g.79557417T= | CA1922240905 | SFTPA2 | c.539A= (p.Lys180=) c.590A= (p.Lys197=) c.569A= (p.Lys190=) | |
10 | g.79557418T>A | CA377353034 | SFTPA2 | c.538A>T (p.Lys180Ter) c.589A>T (p.Lys197Ter) c.568A>T (p.Lys190Ter) | |
10 | g.79557418T>C | CA377353032 | SFTPA2 | c.538A>G (p.Lys180Glu) c.589A>G (p.Lys197Glu) c.568A>G (p.Lys190Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557418T>G | CA377353033 | SFTPA2 | c.538A>C (p.Lys180Gln) c.589A>C (p.Lys197Gln) c.568A>C (p.Lys190Gln) | |
10 | g.79557418T= | CA1922240909 | SFTPA2 | c.538A= (p.Lys180=) c.589A= (p.Lys197=) c.568A= (p.Lys190=) | |
10 | g.79557419C>A | CA377353035 | SFTPA2 | c.537G>T (p.Lys179Asn) c.588G>T (p.Lys196Asn) c.567G>T (p.Lys189Asn) | |
10 | g.79557419C>G | CA377353036 | SFTPA2 | c.537G>C (p.Lys179Asn) c.588G>C (p.Lys196Asn) c.567G>C (p.Lys189Asn) | |
10 | g.79557419C>T | CA470414575 | SFTPA2 | c.537G>A (p.Lys179=) c.588G>A (p.Lys196=) c.567G>A (p.Lys189=) | |
10 | g.79557420T>A | CA377353037 | SFTPA2 | c.536A>T (p.Lys179Met) c.587A>T (p.Lys196Met) c.566A>T (p.Lys189Met) | |
10 | g.79557420T>C | CA5574016 | SFTPA2 | c.536A>G (p.Lys179Arg) c.587A>G (p.Lys196Arg) c.566A>G (p.Lys189Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557420T>G | CA377353038 | SFTPA2 | c.536A>C (p.Lys179Thr) c.587A>C (p.Lys196Thr) c.566A>C (p.Lys189Thr) | |
10 | g.79557420T= | CA1922240912 | SFTPA2 | c.536A= (p.Lys179=) c.587A= (p.Lys196=) c.566A= (p.Lys189=) | |
10 | g.79557421T>A | CA377353039 | SFTPA2 | c.535A>T (p.Lys179Ter) c.586A>T (p.Lys196Ter) c.565A>T (p.Lys189Ter) | |
10 | g.79557421T>C | CA377353040 | SFTPA2 | c.535A>G (p.Lys179Glu) c.586A>G (p.Lys196Glu) c.565A>G (p.Lys189Glu) | |
10 | g.79557421T>G | CA377353041 | SFTPA2 | c.535A>C (p.Lys179Gln) c.586A>C (p.Lys196Gln) c.565A>C (p.Lys189Gln) | |
10 | g.79557422C>A | CA470414576 | SFTPA2 | c.534G>T (p.Val178=) c.585G>T (p.Val195=) c.564G>T (p.Val188=) | |
10 | g.79557422C>G | CA470414577 | SFTPA2 | c.534G>C (p.Val178=) c.585G>C (p.Val195=) c.564G>C (p.Val188=) | |
10 | g.79557422C>T | CA470414578 | SFTPA2 | c.534G>A (p.Val178=) c.585G>A (p.Val195=) c.564G>A (p.Val188=) |