Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79557436T>A | CA377353068 | SFTPA2 | c.520A>T (p.Ile174Phe) c.571A>T (p.Ile191Phe) c.550A>T (p.Ile184Phe) | gnomAD v4 |
10 | g.79557436T>C | CA377353069 | SFTPA2 | c.520A>G (p.Ile174Val) c.571A>G (p.Ile191Val) c.550A>G (p.Ile184Val) | dbSNP gnomAD v4 |
10 | g.79557436T>G | CA377353070 | SFTPA2 | c.520A>C (p.Ile174Leu) c.571A>C (p.Ile191Leu) c.550A>C (p.Ile184Leu) | dbSNP |
10 | g.79557436T= | CA1922240952 | SFTPA2 | c.520A= (p.Ile174=) c.571A= (p.Ile191=) c.550A= (p.Ile184=) | |
10 | g.79557437G>A | CA470414585 | SFTPA2 | c.519C>T (p.Ala173=) c.570C>T (p.Ala190=) c.549C>T (p.Ala183=) | |
10 | g.79557437G>C | CA470414587 | SFTPA2 | c.519C>G (p.Ala173=) c.570C>G (p.Ala190=) c.549C>G (p.Ala183=) | |
10 | g.79557437G>T | CA470414586 | SFTPA2 | c.519C>A (p.Ala173=) c.570C>A (p.Ala190=) c.549C>A (p.Ala183=) | |
10 | g.79557438G>A | CA5574023 | SFTPA2 | c.518C>T (p.Ala173Val) c.569C>T (p.Ala190Val) c.548C>T (p.Ala183Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557438G>C | CA377353071 | SFTPA2 | c.518C>G (p.Ala173Gly) c.569C>G (p.Ala190Gly) c.548C>G (p.Ala183Gly) | |
10 | g.79557438G= | CA1922240958 | SFTPA2 | c.518C= (p.Ala173=) c.569C= (p.Ala190=) c.548C= (p.Ala183=) | |
10 | g.79557438G>T | CA377353072 | SFTPA2 | c.518C>A (p.Ala173Asp) c.569C>A (p.Ala190Asp) c.548C>A (p.Ala183Asp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557439C>A | CA377353073 | SFTPA2 | c.517G>T (p.Ala173Ser) c.568G>T (p.Ala190Ser) c.547G>T (p.Ala183Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.79557439C= | CA1922240963 | SFTPA2 | c.517G= (p.Ala173=) c.568G= (p.Ala190=) c.547G= (p.Ala183=) | |
10 | g.79557439C>G | CA377353074 | SFTPA2 | c.517G>C (p.Ala173Pro) c.568G>C (p.Ala190Pro) c.547G>C (p.Ala183Pro) | |
10 | g.79557439C>T | CA377353075 | SFTPA2 | c.517G>A (p.Ala173Thr) c.568G>A (p.Ala190Thr) c.547G>A (p.Ala183Thr) | gnomAD v4 |
10 | g.79557440C>A | CA377353076 | SFTPA2 | c.516G>T (p.Glu172Asp) c.567G>T (p.Glu189Asp) c.546G>T (p.Glu182Asp) | |
10 | g.79557440C= | CA1922240965 | SFTPA2 | c.516G= (p.Glu172=) c.567G= (p.Glu189=) c.546G= (p.Glu182=) | |
10 | g.79557440C>G | CA377353077 | SFTPA2 | c.516G>C (p.Glu172Asp) c.567G>C (p.Glu189Asp) c.546G>C (p.Glu182Asp) | ClinVar |
10 | g.79557440C>T | CA470414588 | SFTPA2 | c.516G>A (p.Glu172=) c.567G>A (p.Glu189=) c.546G>A (p.Glu182=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557441T>A | CA377353078 | SFTPA2 | c.515A>T (p.Glu172Val) c.566A>T (p.Glu189Val) c.545A>T (p.Glu182Val) | |
10 | g.79557441T>C | CA377353080 | SFTPA2 | c.515A>G (p.Glu172Gly) c.566A>G (p.Glu189Gly) c.545A>G (p.Glu182Gly) | dbSNP |
10 | g.79557441T>G | CA377353079 | SFTPA2 | c.515A>C (p.Glu172Ala) c.566A>C (p.Glu189Ala) c.545A>C (p.Glu182Ala) | |
10 | g.79557441T= | CA1922240967 | SFTPA2 | c.515A= (p.Glu172=) c.566A= (p.Glu189=) c.545A= (p.Glu182=) | |
10 | g.79557442C>A | CA377353081 | SFTPA2 | c.514G>T (p.Glu172Ter) c.565G>T (p.Glu189Ter) c.544G>T (p.Glu182Ter) | |
10 | g.79557442C>G | CA377353082 | SFTPA2 | c.514G>C (p.Glu172Gln) c.565G>C (p.Glu189Gln) c.544G>C (p.Glu182Gln) | |
10 | g.79557442C>T | CA377353083 | SFTPA2 | c.514G>A (p.Glu172Lys) c.565G>A (p.Glu189Lys) c.544G>A (p.Glu182Lys) | |
10 | g.79557443A>C | CA377353084 | SFTPA2 | c.513T>G (p.Asn171Lys) c.564T>G (p.Asn188Lys) c.543T>G (p.Asn181Lys) | |
10 | g.79557443A>G | CA470414589 | SFTPA2 | c.513T>C (p.Asn171=) c.564T>C (p.Asn188=) c.543T>C (p.Asn181=) | |
10 | g.79557443A>T | CA377353085 | SFTPA2 | c.513T>A (p.Asn171Lys) c.564T>A (p.Asn188Lys) c.543T>A (p.Asn181Lys) | |
10 | g.79557444T>A | CA377353086 | SFTPA2 | c.512A>T (p.Asn171Ile) c.563A>T (p.Asn188Ile) c.542A>T (p.Asn181Ile) | ClinVar dbSNP |
10 | g.79557444T>C | CA377353087 | SFTPA2 | c.512A>G (p.Asn171Ser) c.563A>G (p.Asn188Ser) c.542A>G (p.Asn181Ser) | |
10 | g.79557444T>G | CA377353088 | SFTPA2 | c.512A>C (p.Asn171Thr) c.563A>C (p.Asn188Thr) c.542A>C (p.Asn181Thr) | |
10 | g.79557445T>A | CA377353089 | SFTPA2 | c.511A>T (p.Asn171Tyr) c.562A>T (p.Asn188Tyr) c.541A>T (p.Asn181Tyr) | |
10 | g.79557445T>C | CA377353090 | SFTPA2 | c.511A>G (p.Asn171Asp) c.562A>G (p.Asn188Asp) c.541A>G (p.Asn181Asp) | |
10 | g.79557445T>G | CA377353091 | SFTPA2 | c.511A>C (p.Asn171His) c.562A>C (p.Asn188His) c.541A>C (p.Asn181His) | |
10 | g.79557446T>A | CA377353092 | SFTPA2 | c.510A>T (p.Glu170Asp) c.561A>T (p.Glu187Asp) c.540A>T (p.Glu180Asp) | |
10 | g.79557446T>C | CA470414590 | SFTPA2 | c.510A>G (p.Glu170=) c.561A>G (p.Glu187=) c.540A>G (p.Glu180=) | |
10 | g.79557446T>G | CA377353093 | SFTPA2 | c.510A>C (p.Glu170Asp) c.561A>C (p.Glu187Asp) c.540A>C (p.Glu180Asp) | |
10 | g.79557447T>A | CA377353094 | SFTPA2 | c.509A>T (p.Glu170Val) c.560A>T (p.Glu187Val) c.539A>T (p.Glu180Val) | |
10 | g.79557447T>C | CA377353096 | SFTPA2 | c.509A>G (p.Glu170Gly) c.560A>G (p.Glu187Gly) c.539A>G (p.Glu180Gly) | |
10 | g.79557447T>G | CA377353095 | SFTPA2 | c.509A>C (p.Glu170Ala) c.560A>C (p.Glu187Ala) c.539A>C (p.Glu180Ala) | |
10 | g.79557448C>A | CA377353097 | SFTPA2 | c.508G>T (p.Glu170Ter) c.559G>T (p.Glu187Ter) c.538G>T (p.Glu180Ter) | |
10 | g.79557448C= | CA1922240968 | SFTPA2 | c.508G= (p.Glu170=) c.559G= (p.Glu187=) c.538G= (p.Glu180=) | |
10 | g.79557448C>G | CA377353098 | SFTPA2 | c.508G>C (p.Glu170Gln) c.559G>C (p.Glu187Gln) c.538G>C (p.Glu180Gln) | |
10 | g.79557448C>T | CA5574024 | SFTPA2 | c.508G>A (p.Glu170Lys) c.559G>A (p.Glu187Lys) c.538G>A (p.Glu180Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.79557449C>A | CA377353099 | SFTPA2 | c.507G>T (p.Glu169Asp) c.558G>T (p.Glu186Asp) c.537G>T (p.Glu179Asp) | |
10 | g.79557449C= | CA1922240969 | SFTPA2 | c.507G= (p.Glu169=) c.558G= (p.Glu186=) c.537G= (p.Glu179=) | |
10 | g.79557449C>G | CA377353100 | SFTPA2 | c.507G>C (p.Glu169Asp) c.558G>C (p.Glu186Asp) c.537G>C (p.Glu179Asp) | |
10 | g.79557449C>T | CA5574025 | SFTPA2 | c.507G>A (p.Glu169=) c.558G>A (p.Glu186=) c.537G>A (p.Glu179=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557450T>A | CA377353101 | SFTPA2 | c.506A>T (p.Glu169Val) c.557A>T (p.Glu186Val) c.536A>T (p.Glu179Val) | |
10 | g.79557450T>C | CA377353102 | SFTPA2 | c.506A>G (p.Glu169Gly) c.557A>G (p.Glu186Gly) c.536A>G (p.Glu179Gly) | |
10 | g.79557450T>G | CA377353103 | SFTPA2 | c.506A>C (p.Glu169Ala) c.557A>C (p.Glu186Ala) c.536A>C (p.Glu179Ala) | |
10 | g.79557451C>A | CA377353106 | SFTPA2 | c.505G>T (p.Glu169Ter) c.556G>T (p.Glu186Ter) c.535G>T (p.Glu179Ter) | |
10 | g.79557451C= | CA1922240971 | SFTPA2 | c.505G= (p.Glu169=) c.556G= (p.Glu186=) c.535G= (p.Glu179=) | |
10 | g.79557451C>G | CA377353105 | SFTPA2 | c.505G>C (p.Glu169Gln) c.556G>C (p.Glu186Gln) c.535G>C (p.Glu179Gln) | gnomAD v4 |
10 | g.79557451C>T | CA377353104 | SFTPA2 | c.505G>A (p.Glu169Lys) c.556G>A (p.Glu186Lys) c.535G>A (p.Glu179Lys) | dbSNP |
10 | g.79557452T>A | CA470414591 | SFTPA2 | c.504A>T (p.Pro168=) c.555A>T (p.Pro185=) c.534A>T (p.Pro178=) | |
10 | g.79557452T>C | CA470414592 | SFTPA2 | c.504A>G (p.Pro168=) c.555A>G (p.Pro185=) c.534A>G (p.Pro178=) | gnomAD v4 |
10 | g.79557452T>G | CA470414593 | SFTPA2 | c.504A>C (p.Pro168=) c.555A>C (p.Pro185=) c.534A>C (p.Pro178=) | |
10 | g.79557453G>A | CA5574026 | SFTPA2 | c.503C>T (p.Pro168Leu) c.554C>T (p.Pro185Leu) c.533C>T (p.Pro178Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557453G>C | CA377353108 | SFTPA2 | c.503C>G (p.Pro168Arg) c.554C>G (p.Pro185Arg) c.533C>G (p.Pro178Arg) | |
10 | g.79557453G= | CA1922240974 | SFTPA2 | c.503C= (p.Pro168=) c.554C= (p.Pro185=) c.533C= (p.Pro178=) | |
10 | g.79557453G>T | CA377353107 | SFTPA2 | c.503C>A (p.Pro168Gln) c.554C>A (p.Pro185Gln) c.533C>A (p.Pro178Gln) | |
10 | g.79557454G>A | CA377353109 | SFTPA2 | c.502C>T (p.Pro168Ser) c.553C>T (p.Pro185Ser) c.532C>T (p.Pro178Ser) | |
10 | g.79557454G>C | CA377353110 | SFTPA2 | c.502C>G (p.Pro168Ala) c.553C>G (p.Pro185Ala) c.532C>G (p.Pro178Ala) | |
10 | g.79557454G>T | CA377353111 | SFTPA2 | c.502C>A (p.Pro168Thr) c.553C>A (p.Pro185Thr) c.532C>A (p.Pro178Thr) | gnomAD v4 |
10 | g.79557455A= | CA1922240978 | SFTPA2 | c.501T= (p.Asn167=) c.552T= (p.Asn184=) c.531T= (p.Asn177=) | |
10 | g.79557455A>C | CA377353112 | SFTPA2 | c.501T>G (p.Asn167Lys) c.552T>G (p.Asn184Lys) c.531T>G (p.Asn177Lys) | |
10 | g.79557455A>G | CA470414594 | SFTPA2 | c.501T>C (p.Asn167=) c.552T>C (p.Asn184=) c.531T>C (p.Asn177=) | |
10 | g.79557455A>T | CA377353113 | SFTPA2 | c.501T>A (p.Asn167Lys) c.552T>A (p.Asn184Lys) c.531T>A (p.Asn177Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557456T>A | CA377353114 | SFTPA2 | c.500A>T (p.Asn167Ile) c.551A>T (p.Asn184Ile) c.530A>T (p.Asn177Ile) | |
10 | g.79557456T>C | CA377353115 | SFTPA2 | c.500A>G (p.Asn167Ser) c.551A>G (p.Asn184Ser) c.530A>G (p.Asn177Ser) | |
10 | g.79557456T>G | CA377353116 | SFTPA2 | c.500A>C (p.Asn167Thr) c.551A>C (p.Asn184Thr) c.530A>C (p.Asn177Thr) | |
10 | g.79557457T>A | CA377353117 | SFTPA2 | c.499A>T (p.Asn167Tyr) c.550A>T (p.Asn184Tyr) c.529A>T (p.Asn177Tyr) | |
10 | g.79557457T>C | CA377353118 | SFTPA2 | c.499A>G (p.Asn167Asp) c.550A>G (p.Asn184Asp) c.529A>G (p.Asn177Asp) | |
10 | g.79557457T>G | CA377353119 | SFTPA2 | c.499A>C (p.Asn167His) c.550A>C (p.Asn184His) c.529A>C (p.Asn177His) | |
10 | g.79557458C>A | CA377353121 | SFTPA2 | c.498G>T (p.Arg166Ser) c.549G>T (p.Arg183Ser) c.528G>T (p.Arg176Ser) | |
10 | g.79557458C= | CA1922240982 | SFTPA2 | c.498G= (p.Arg166=) c.549G= (p.Arg183=) c.528G= (p.Arg176=) | |
10 | g.79557458C>G | CA377353120 | SFTPA2 | c.498G>C (p.Arg166Ser) c.549G>C (p.Arg183Ser) c.528G>C (p.Arg176Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557458C>T | CA470414595 | SFTPA2 | c.498G>A (p.Arg166=) c.549G>A (p.Arg183=) c.528G>A (p.Arg176=) | |
10 | g.79557459C>A | CA377353122 | SFTPA2 | c.497G>T (p.Arg166Met) c.548G>T (p.Arg183Met) c.527G>T (p.Arg176Met) | |
10 | g.79557459C>G | CA377353123 | SFTPA2 | c.497G>C (p.Arg166Thr) c.548G>C (p.Arg183Thr) c.527G>C (p.Arg176Thr) | |
10 | g.79557459C>T | CA377353124 | SFTPA2 | c.497G>A (p.Arg166Lys) c.548G>A (p.Arg183Lys) c.527G>A (p.Arg176Lys) | |
10 | g.79557460T>A | CA377353125 | SFTPA2 | c.496A>T (p.Arg166Trp) c.547A>T (p.Arg183Trp) c.526A>T (p.Arg176Trp) | |
10 | g.79557460T>C | CA377353126 | SFTPA2 | c.496A>G (p.Arg166Gly) c.547A>G (p.Arg183Gly) c.526A>G (p.Arg176Gly) | |
10 | g.79557460T>G | CA470414596 | SFTPA2 | c.496A>C (p.Arg166=) c.547A>C (p.Arg183=) c.526A>C (p.Arg176=) | |
10 | g.79557461T>A | CA470414597 | SFTPA2 | c.495A>T (p.Pro165=) c.546A>T (p.Pro182=) c.525A>T (p.Pro175=) | |
10 | g.79557461T>C | CA470414598 | SFTPA2 | c.495A>G (p.Pro165=) c.546A>G (p.Pro182=) c.525A>G (p.Pro175=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557461T>G | CA470414599 | SFTPA2 | c.495A>C (p.Pro165=) c.546A>C (p.Pro182=) c.525A>C (p.Pro175=) | |
10 | g.79557461T= | CA1922240986 | SFTPA2 | c.495A= (p.Pro165=) c.546A= (p.Pro182=) c.525A= (p.Pro175=) | |
10 | g.79557462G>A | CA377353127 | SFTPA2 | c.494C>T (p.Pro165Leu) c.545C>T (p.Pro182Leu) c.524C>T (p.Pro175Leu) | |
10 | g.79557462G>C | CA377353128 | SFTPA2 | c.494C>G (p.Pro165Arg) c.545C>G (p.Pro182Arg) c.524C>G (p.Pro175Arg) | dbSNP gnomAD v2 |
10 | g.79557462G= | CA1922240988 | SFTPA2 | c.494C= (p.Pro165=) c.545C= (p.Pro182=) c.524C= (p.Pro175=) | |
10 | g.79557462G>T | CA377353129 | SFTPA2 | c.494C>A (p.Pro165Gln) c.545C>A (p.Pro182Gln) c.524C>A (p.Pro175Gln) | |
10 | g.79557463G>A | CA377353130 | SFTPA2 | c.493C>T (p.Pro165Ser) c.544C>T (p.Pro182Ser) c.523C>T (p.Pro175Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557463G>C | CA377353131 | SFTPA2 | c.493C>G (p.Pro165Ala) c.544C>G (p.Pro182Ala) c.523C>G (p.Pro175Ala) | |
10 | g.79557463G= | CA1922240989 | SFTPA2 | c.493C= (p.Pro165=) c.544C= (p.Pro182=) c.523C= (p.Pro175=) | |
10 | g.79557463G>T | CA377353132 | SFTPA2 | c.493C>A (p.Pro165Thr) c.544C>A (p.Pro182Thr) c.523C>A (p.Pro175Thr) | |
10 | g.79557464G>A | CA470414600 | SFTPA2 | c.492C>T (p.Val164=) c.543C>T (p.Val181=) c.522C>T (p.Val174=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557464G>C | CA470414601 | SFTPA2 | c.492C>G (p.Val164=) c.543C>G (p.Val181=) c.522C>G (p.Val174=) | |
10 | g.79557464G= | CA1922240993 | SFTPA2 | c.492C= (p.Val164=) c.543C= (p.Val181=) c.522C= (p.Val174=) | |
10 | g.79557464G>T | CA210248338 | SFTPA2 | c.492C>A (p.Val164=) c.543C>A (p.Val181=) c.522C>A (p.Val174=) | dbSNP |
10 | g.79557465A>C | CA377353134 | SFTPA2 | c.491T>G (p.Val164Gly) c.542T>G (p.Val181Gly) c.521T>G (p.Val174Gly) | |
10 | g.79557465A>G | CA377353135 | SFTPA2 | c.491T>C (p.Val164Ala) c.542T>C (p.Val181Ala) c.521T>C (p.Val174Ala) | |
10 | g.79557465A>T | CA377353133 | SFTPA2 | c.491T>A (p.Val164Asp) c.542T>A (p.Val181Asp) c.521T>A (p.Val174Asp) | |
10 | g.79557466C>A | CA377353136 | SFTPA2 | c.490G>T (p.Val164Phe) c.541G>T (p.Val181Phe) c.520G>T (p.Val174Phe) | |
10 | g.79557466C>G | CA377353137 | SFTPA2 | c.490G>C (p.Val164Leu) c.541G>C (p.Val181Leu) c.520G>C (p.Val174Leu) | |
10 | g.79557466C>T | CA377353138 | SFTPA2 | c.490G>A (p.Val164Ile) c.541G>A (p.Val181Ile) c.520G>A (p.Val174Ile) | |
10 | g.79557467A= | CA1922240996 | SFTPA2 | c.489T= (p.Ala163=) c.540T= (p.Ala180=) c.519T= (p.Ala173=) | |
10 | g.79557467A>C | CA470414602 | SFTPA2 | c.489T>G (p.Ala163=) c.540T>G (p.Ala180=) c.519T>G (p.Ala173=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557467A>G | CA470414603 | SFTPA2 | c.489T>C (p.Ala163=) c.540T>C (p.Ala180=) c.519T>C (p.Ala173=) | |
10 | g.79557467A>T | CA470414604 | SFTPA2 | c.489T>A (p.Ala163=) c.540T>A (p.Ala180=) c.519T>A (p.Ala173=) | |
10 | g.79557468G>A | CA5574027 | SFTPA2 | c.488C>T (p.Ala163Val) c.539C>T (p.Ala180Val) c.518C>T (p.Ala173Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557468G>C | CA377353139 | SFTPA2 | c.488C>G (p.Ala163Gly) c.539C>G (p.Ala180Gly) c.518C>G (p.Ala173Gly) | |
10 | g.79557468G= | CA1922240998 | SFTPA2 | c.488C= (p.Ala163=) c.539C= (p.Ala180=) c.518C= (p.Ala173=) | |
10 | g.79557468G>T | CA377353140 | SFTPA2 | c.488C>A (p.Ala163Asp) c.539C>A (p.Ala180Asp) c.518C>A (p.Ala173Asp) | |
10 | g.79557469C>A | CA377353141 | SFTPA2 | c.487G>T (p.Ala163Ser) c.538G>T (p.Ala180Ser) c.517G>T (p.Ala173Ser) | |
10 | g.79557469C= | CA1922241003 | SFTPA2 | c.487G= (p.Ala163=) c.538G= (p.Ala180=) c.517G= (p.Ala173=) | |
10 | g.79557469C>G | CA377353142 | SFTPA2 | c.487G>C (p.Ala163Pro) c.538G>C (p.Ala180Pro) c.517G>C (p.Ala173Pro) | gnomAD v4 |
10 | g.79557469C>T | CA377353143 | SFTPA2 | c.487G>A (p.Ala163Thr) c.538G>A (p.Ala180Thr) c.517G>A (p.Ala173Thr) | dbSNP |
10 | g.79557470A>C | CA377353144 | SFTPA2 | c.486T>G (p.Ile162Met) c.537T>G (p.Ile179Met) c.516T>G (p.Ile172Met) | |
10 | g.79557470A>G | CA470414605 | SFTPA2 | c.486T>C (p.Ile162=) c.537T>C (p.Ile179=) c.516T>C (p.Ile172=) | |
10 | g.79557470A>T | CA470414606 | SFTPA2 | c.486T>A (p.Ile162=) c.537T>A (p.Ile179=) c.516T>A (p.Ile172=) | |
10 | g.79557471A= | CA1922244420 | SFTPA2 | c.485T= (p.Ile162=) c.536T= (p.Ile179=) c.515T= (p.Ile172=) | |
10 | g.79557471A>C | CA377353145 | SFTPA2 | c.485T>G (p.Ile162Ser) c.536T>G (p.Ile179Ser) c.515T>G (p.Ile172Ser) | |
10 | g.79557471A>G | CA377353146 | SFTPA2 | c.485T>C (p.Ile162Thr) c.536T>C (p.Ile179Thr) c.515T>C (p.Ile172Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557471A>T | CA377353147 | SFTPA2 | c.485T>A (p.Ile162Asn) c.536T>A (p.Ile179Asn) c.515T>A (p.Ile172Asn) | |
10 | g.79557472T>A | CA377353150 | SFTPA2 | c.484A>T (p.Ile162Phe) c.535A>T (p.Ile179Phe) c.514A>T (p.Ile172Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557472T>C | CA377353149 | SFTPA2 | c.484A>G (p.Ile162Val) c.535A>G (p.Ile179Val) c.514A>G (p.Ile172Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557472T>G | CA377353148 | SFTPA2 | c.484A>C (p.Ile162Leu) c.535A>C (p.Ile179Leu) c.514A>C (p.Ile172Leu) | |
10 | g.79557472T= | CA1922244421 | SFTPA2 | c.484A= (p.Ile162=) c.535A= (p.Ile179=) c.514A= (p.Ile172=) | |
10 | g.79557473G>A | CA470414608 | SFTPA2 | c.483C>T (p.Arg161=) c.534C>T (p.Arg178=) c.513C>T (p.Arg171=) | gnomAD v4 |
10 | g.79557473G>C | CA470414607 | SFTPA2 | c.483C>G (p.Arg161=) c.534C>G (p.Arg178=) c.513C>G (p.Arg171=) | |
10 | g.79557473G= | CA1922244422 | SFTPA2 | c.483C= (p.Arg161=) c.534C= (p.Arg178=) c.513C= (p.Arg171=) | |
10 | g.79557473G>T | CA5574028 | SFTPA2 | c.483C>A (p.Arg161=) c.534C>A (p.Arg178=) c.513C>A (p.Arg171=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557474C>A | CA377353151 | SFTPA2 | c.482G>T (p.Arg161Leu) c.533G>T (p.Arg178Leu) c.512G>T (p.Arg171Leu) | gnomAD v4 COSMIC |
10 | g.79557474C= | CA1922244423 | SFTPA2 | c.482G= (p.Arg161=) c.533G= (p.Arg178=) c.512G= (p.Arg171=) | |
10 | g.79557474C>G | CA377353152 | SFTPA2 | c.482G>C (p.Arg161Pro) c.533G>C (p.Arg178Pro) c.512G>C (p.Arg171Pro) | |
10 | g.79557474C>T | CA5574029 | SFTPA2 | c.482G>A (p.Arg161His) c.533G>A (p.Arg178His) c.512G>A (p.Arg171His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557475G>A | CA5574031 | SFTPA2 | c.481C>T (p.Arg161Cys) c.532C>T (p.Arg178Cys) c.511C>T (p.Arg171Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557475G>C | CA5574030 | SFTPA2 | c.481C>G (p.Arg161Gly) c.532C>G (p.Arg178Gly) c.511C>G (p.Arg171Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557475G= | CA1922244424 | SFTPA2 | c.481C= (p.Arg161=) c.532C= (p.Arg178=) c.511C= (p.Arg171=) | |
10 | g.79557475G>T | CA377353153 | SFTPA2 | c.481C>A (p.Arg161Ser) c.532C>A (p.Arg178Ser) c.511C>A (p.Arg171Ser) | |
10 | g.79557476G>A | CA470414609 | SFTPA2 | c.480C>T (p.Gly160=) c.531C>T (p.Gly177=) c.510C>T (p.Gly170=) | |
10 | g.79557476G>C | CA470414610 | SFTPA2 | c.480C>G (p.Gly160=) c.531C>G (p.Gly177=) c.510C>G (p.Gly170=) | dbSNP |
10 | g.79557476G>T | CA470414611 | SFTPA2 | c.480C>A (p.Gly160=) c.531C>A (p.Gly177=) c.510C>A (p.Gly170=) | |
10 | g.79557477C>A | CA377353154 | SFTPA2 | c.479G>T (p.Gly160Val) c.530G>T (p.Gly177Val) c.509G>T (p.Gly170Val) | |
10 | g.79557477C>G | CA377353155 | SFTPA2 | c.479G>C (p.Gly160Ala) c.530G>C (p.Gly177Ala) c.509G>C (p.Gly170Ala) | |
10 | g.79557477C>T | CA377353156 | SFTPA2 | c.479G>A (p.Gly160Asp) c.530G>A (p.Gly177Asp) c.509G>A (p.Gly170Asp) | gnomAD v4 |
10 | g.79557477_79557478insA | CA2609869145 | SFTPA2 | c.478_479insT (p.Gly160ValfsTer13) c.529_530insT (p.Gly177ValfsTer13) c.508_509insT (p.Gly170ValfsTer13) | gnomAD v4 |
10 | g.79557478C>A | CA377353157 | SFTPA2 | c.478G>T (p.Gly160Cys) c.529G>T (p.Gly177Cys) c.508G>T (p.Gly170Cys) | |
10 | g.79557478C= | CA1922244425 | SFTPA2 | c.478G= (p.Gly160=) c.529G= (p.Gly177=) c.508G= (p.Gly170=) | |
10 | g.79557478C>G | CA377353158 | SFTPA2 | c.478G>C (p.Gly160Arg) c.529G>C (p.Gly177Arg) c.508G>C (p.Gly170Arg) | |
10 | g.79557478C>T | CA210248358 | SFTPA2 | c.478G>A (p.Gly160Ser) c.529G>A (p.Gly177Ser) c.508G>A (p.Gly170Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557478_79557479insAT | CA2609869146 | SFTPA2 | c.477_478insAT (p.Gly160MetfsTer20) c.528_529insAT (p.Gly177MetfsTer20) c.507_508insAT (p.Gly170MetfsTer20) | gnomAD v4 |
10 | g.79557479G>A | CA5574032 | SFTPA2 | c.477C>T (p.Gly159=) c.528C>T (p.Gly176=) c.507C>T (p.Gly169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557479G>C | CA470414612 | SFTPA2 | c.477C>G (p.Gly159=) c.528C>G (p.Gly176=) c.507C>G (p.Gly169=) | |
10 | g.79557479G= | CA1922244426 | SFTPA2 | c.477C= (p.Gly159=) c.528C= (p.Gly176=) c.507C= (p.Gly169=) | |
10 | g.79557479G>T | CA5574033 | SFTPA2 | c.477C>A (p.Gly159=) c.528C>A (p.Gly176=) c.507C>A (p.Gly169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557480C>A | CA377353159 | SFTPA2 | c.476G>T (p.Gly159Val) c.527G>T (p.Gly176Val) c.506G>T (p.Gly169Val) | |
10 | g.79557480C= | CA1922244427 | SFTPA2 | c.476G= (p.Gly159=) c.527G= (p.Gly176=) c.506G= (p.Gly169=) | |
10 | g.79557480C>G | CA377353160 | SFTPA2 | c.476G>C (p.Gly159Ala) c.527G>C (p.Gly176Ala) c.506G>C (p.Gly169Ala) | |
10 | g.79557480C>T | CA5574034 | SFTPA2 | c.476G>A (p.Gly159Asp) c.527G>A (p.Gly176Asp) c.506G>A (p.Gly169Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557480_79557481del | CA2609869147 | SFTPA2 | c.475_476del (p.Gly159ArgfsTer13) c.526_527del (p.Gly176ArgfsTer13) c.505_506del (p.Gly169ArgfsTer13) | gnomAD v4 |
10 | g.79557481C>A | CA377353161 | SFTPA2 | c.475G>T (p.Gly159Cys) c.526G>T (p.Gly176Cys) c.505G>T (p.Gly169Cys) | |
10 | g.79557481C>G | CA377353163 | SFTPA2 | c.475G>C (p.Gly159Arg) c.526G>C (p.Gly176Arg) c.505G>C (p.Gly169Arg) | |
10 | g.79557481C>T | CA377353162 | SFTPA2 | c.475G>A (p.Gly159Ser) c.526G>A (p.Gly176Ser) c.505G>A (p.Gly169Ser) | gnomAD v4 |
10 | g.79557482T>A | CA470414613 | SFTPA2 | c.474A>T (p.Ala158=) c.525A>T (p.Ala175=) c.504A>T (p.Ala168=) | |
10 | g.79557482T>C | CA470414614 | SFTPA2 | c.474A>G (p.Ala158=) c.525A>G (p.Ala175=) c.504A>G (p.Ala168=) | |
10 | g.79557482T>G | CA470414615 | SFTPA2 | c.474A>C (p.Ala158=) c.525A>C (p.Ala175=) c.504A>C (p.Ala168=) | gnomAD v4 |
10 | g.79557483G>A | CA377353164 | SFTPA2 | c.473C>T (p.Ala158Val) c.524C>T (p.Ala175Val) c.503C>T (p.Ala168Val) | dbSNP gnomAD v4 |
10 | g.79557483G>C | CA377353165 | SFTPA2 | c.473C>G (p.Ala158Gly) c.524C>G (p.Ala175Gly) c.503C>G (p.Ala168Gly) | |
10 | g.79557483G= | CA1922244428 | SFTPA2 | c.473C= (p.Ala158=) c.524C= (p.Ala175=) c.503C= (p.Ala168=) | |
10 | g.79557483G>T | CA377353166 | SFTPA2 | c.473C>A (p.Ala158Glu) c.524C>A (p.Ala175Glu) c.503C>A (p.Ala168Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557484C>A | CA377353167 | SFTPA2 | c.472G>T (p.Ala158Ser) c.523G>T (p.Ala175Ser) c.502G>T (p.Ala168Ser) | |
10 | g.79557484C>G | CA377353168 | SFTPA2 | c.472G>C (p.Ala158Pro) c.523G>C (p.Ala175Pro) c.502G>C (p.Ala168Pro) | |
10 | g.79557484C>T | CA377353169 | SFTPA2 | c.472G>A (p.Ala158Thr) c.523G>A (p.Ala175Thr) c.502G>A (p.Ala168Thr) | gnomAD v4 |
10 | g.79557485T>A | CA377353170 | SFTPA2 | c.471A>T (p.Arg157Ser) c.522A>T (p.Arg174Ser) c.501A>T (p.Arg167Ser) | |
10 | g.79557485T>C | CA470414616 | SFTPA2 | c.471A>G (p.Arg157=) c.522A>G (p.Arg174=) c.501A>G (p.Arg167=) | |
10 | g.79557485T>G | CA377353171 | SFTPA2 | c.471A>C (p.Arg157Ser) c.522A>C (p.Arg174Ser) c.501A>C (p.Arg167Ser) | |
10 | g.79557486C>A | CA377353172 | SFTPA2 | c.470G>T (p.Arg157Ile) c.521G>T (p.Arg174Ile) c.500G>T (p.Arg167Ile) | |
10 | g.79557486C>G | CA377353173 | SFTPA2 | c.470G>C (p.Arg157Thr) c.521G>C (p.Arg174Thr) c.500G>C (p.Arg167Thr) | |
10 | g.79557486C>T | CA377353174 | SFTPA2 | c.470G>A (p.Arg157Lys) c.521G>A (p.Arg174Lys) c.500G>A (p.Arg167Lys) | |
10 | g.79557487T>A | CA377353176 | SFTPA2 | c.469A>T (p.Arg157Ter) c.520A>T (p.Arg174Ter) c.499A>T (p.Arg167Ter) | |
10 | g.79557487T>C | CA377353175 | SFTPA2 | c.469A>G (p.Arg157Gly) c.520A>G (p.Arg174Gly) c.499A>G (p.Arg167Gly) | |
10 | g.79557487T>G | CA470414617 | SFTPA2 | c.469A>C (p.Arg157=) c.520A>C (p.Arg174=) c.499A>C (p.Arg167=) | |
10 | g.79557488G>A | CA470414618 | SFTPA2 | c.468C>T (p.Ala156=) c.519C>T (p.Ala173=) c.498C>T (p.Ala166=) | |
10 | g.79557488G>C | CA470414619 | SFTPA2 | c.468C>G (p.Ala156=) c.519C>G (p.Ala173=) c.498C>G (p.Ala166=) | gnomAD v4 |
10 | g.79557488G>T | CA470414620 | SFTPA2 | c.468C>A (p.Ala156=) c.519C>A (p.Ala173=) c.498C>A (p.Ala166=) | |
10 | g.79557489G>A | CA377353177 | SFTPA2 | c.467C>T (p.Ala156Val) c.518C>T (p.Ala173Val) c.497C>T (p.Ala166Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557489G>C | CA377353178 | SFTPA2 | c.467C>G (p.Ala156Gly) c.518C>G (p.Ala173Gly) c.497C>G (p.Ala166Gly) | |
10 | g.79557489G= | CA1922244429 | SFTPA2 | c.467C= (p.Ala156=) c.518C= (p.Ala173=) c.497C= (p.Ala166=) | |
10 | g.79557489G>T | CA377353179 | SFTPA2 | c.467C>A (p.Ala156Asp) c.518C>A (p.Ala173Asp) c.497C>A (p.Ala166Asp) | |
10 | g.79557490C>A | CA377353180 | SFTPA2 | c.466G>T (p.Ala156Ser) c.517G>T (p.Ala173Ser) c.496G>T (p.Ala166Ser) | gnomAD v4 |
10 | g.79557490C>G | CA377353181 | SFTPA2 | c.466G>C (p.Ala156Pro) c.517G>C (p.Ala173Pro) c.496G>C (p.Ala166Pro) | |
10 | g.79557490C>T | CA377353182 | SFTPA2 | c.466G>A (p.Ala156Thr) c.517G>A (p.Ala173Thr) c.496G>A (p.Ala166Thr) | |
10 | g.79557491A>C | CA377353183 | SFTPA2 | c.465T>G (p.Cys155Trp) c.516T>G (p.Cys172Trp) c.495T>G (p.Cys165Trp) | |
10 | g.79557491A>G | CA470414621 | SFTPA2 | c.465T>C (p.Cys155=) c.516T>C (p.Cys172=) c.495T>C (p.Cys165=) | gnomAD v4 |
10 | g.79557491A>T | CA377353184 | SFTPA2 | c.465T>A (p.Cys155Ter) c.516T>A (p.Cys172Ter) c.495T>A (p.Cys165Ter) | |
10 | g.79557492C>A | CA377353185 | SFTPA2 | c.464G>T (p.Cys155Phe) c.515G>T (p.Cys172Phe) c.494G>T (p.Cys165Phe) | |
10 | g.79557492C>G | CA377353186 | SFTPA2 | c.464G>C (p.Cys155Ser) c.515G>C (p.Cys172Ser) c.494G>C (p.Cys165Ser) | |
10 | g.79557492C>T | CA377353187 | SFTPA2 | c.464G>A (p.Cys155Tyr) c.515G>A (p.Cys172Tyr) c.494G>A (p.Cys165Tyr) | |
10 | g.79557493A>C | CA377353190 | SFTPA2 | c.463T>G (p.Cys155Gly) c.514T>G (p.Cys172Gly) c.493T>G (p.Cys165Gly) | |
10 | g.79557493A>G | CA377353189 | SFTPA2 | c.463T>C (p.Cys155Arg) c.514T>C (p.Cys172Arg) c.493T>C (p.Cys165Arg) | |
10 | g.79557493A>T | CA377353188 | SFTPA2 | c.463T>A (p.Cys155Ser) c.514T>A (p.Cys172Ser) c.493T>A (p.Cys165Ser) | |
10 | g.79557494T>A | CA470414624 | SFTPA2 | c.462A>T (p.Ala154=) c.513A>T (p.Ala171=) c.492A>T (p.Ala164=) | |
10 | g.79557494T>C | CA470414623 | SFTPA2 | c.462A>G (p.Ala154=) c.513A>G (p.Ala171=) c.492A>G (p.Ala164=) | |
10 | g.79557494T>G | CA470414622 | SFTPA2 | c.462A>C (p.Ala154=) c.513A>C (p.Ala171=) c.492A>C (p.Ala164=) | |
10 | g.79557495G>A | CA377353191 | SFTPA2 | c.461C>T (p.Ala154Val) c.512C>T (p.Ala171Val) c.491C>T (p.Ala164Val) | |
10 | g.79557495G>C | CA377353192 | SFTPA2 | c.461C>G (p.Ala154Gly) c.512C>G (p.Ala171Gly) c.491C>G (p.Ala164Gly) | |
10 | g.79557495G>T | CA377353193 | SFTPA2 | c.461C>A (p.Ala154Glu) c.512C>A (p.Ala171Glu) c.491C>A (p.Ala164Glu) | |
10 | g.79557496C>A | CA377353194 | SFTPA2 | c.460G>T (p.Ala154Ser) c.511G>T (p.Ala171Ser) c.490G>T (p.Ala164Ser) | |
10 | g.79557496C= | CA1922244430 | SFTPA2 | c.460G= (p.Ala154=) c.511G= (p.Ala171=) c.490G= (p.Ala164=) | |
10 | g.79557496C>G | CA5574035 | SFTPA2 | c.460G>C (p.Ala154Pro) c.511G>C (p.Ala171Pro) c.490G>C (p.Ala164Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557496C>T | CA377353195 | SFTPA2 | c.460G>A (p.Ala154Thr) c.511G>A (p.Ala171Thr) c.490G>A (p.Ala164Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557497C>A | CA377353196 | SFTPA2 | c.459G>T (p.Glu153Asp) c.510G>T (p.Glu170Asp) c.489G>T (p.Glu163Asp) | |
10 | g.79557497C= | CA1922244431 | SFTPA2 | c.459G= (p.Glu153=) c.510G= (p.Glu170=) c.489G= (p.Glu163=) | |
10 | g.79557497C>G | CA377353197 | SFTPA2 | c.459G>C (p.Glu153Asp) c.510G>C (p.Glu170Asp) c.489G>C (p.Glu163Asp) | |
10 | g.79557497C>T | CA470414625 | SFTPA2 | c.459G>A (p.Glu153=) c.510G>A (p.Glu170=) c.489G>A (p.Glu163=) | dbSNP |
10 | g.79557498T>A | CA377353198 | SFTPA2 | c.458A>T (p.Glu153Val) c.509A>T (p.Glu170Val) c.488A>T (p.Glu163Val) | |
10 | g.79557498T>C | CA377353199 | SFTPA2 | c.458A>G (p.Glu153Gly) c.509A>G (p.Glu170Gly) c.488A>G (p.Glu163Gly) | |
10 | g.79557498T>G | CA377353200 | SFTPA2 | c.458A>C (p.Glu153Ala) c.509A>C (p.Glu170Ala) c.488A>C (p.Glu163Ala) | |
10 | g.79557499C>A | CA377353203 | SFTPA2 | c.457G>T (p.Glu153Ter) c.508G>T (p.Glu170Ter) c.487G>T (p.Glu163Ter) | |
10 | g.79557499C>G | CA377353202 | SFTPA2 | c.457G>C (p.Glu153Gln) c.508G>C (p.Glu170Gln) c.487G>C (p.Glu163Gln) | |
10 | g.79557499C>T | CA377353201 | SFTPA2 | c.457G>A (p.Glu153Lys) c.508G>A (p.Glu170Lys) c.487G>A (p.Glu163Lys) | gnomAD v4 |
10 | g.79557499_79557500insA | CA2609869149 | SFTPA2 | c.456_457insT (p.Glu153Ter) c.507_508insT (p.Glu170Ter) c.486_487insT (p.Glu163Ter) | gnomAD v4 |
10 | g.79557500C>A | CA377353204 | SFTPA2 | c.456G>T (p.Gln152His) c.507G>T (p.Gln169His) c.486G>T (p.Gln162His) | |
10 | g.79557500C= | CA1922244432 | SFTPA2 | c.456G= (p.Gln152=) c.507G= (p.Gln169=) c.486G= (p.Gln162=) | |
10 | g.79557500C>G | CA377353205 | SFTPA2 | c.456G>C (p.Gln152His) c.507G>C (p.Gln169His) c.486G>C (p.Gln162His) | |
10 | g.79557500C>T | CA5574036 | SFTPA2 | c.456G>A (p.Gln152=) c.507G>A (p.Gln169=) c.486G>A (p.Gln162=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557501T>A | CA377353206 | SFTPA2 | c.455A>T (p.Gln152Leu) c.506A>T (p.Gln169Leu) c.485A>T (p.Gln162Leu) | |
10 | g.79557501T>C | CA5574037 | SFTPA2 | c.455A>G (p.Gln152Arg) c.506A>G (p.Gln169Arg) c.485A>G (p.Gln162Arg) | dbSNP ExAC |
10 | g.79557501T>G | CA377353207 | SFTPA2 | c.455A>C (p.Gln152Pro) c.506A>C (p.Gln169Pro) c.485A>C (p.Gln162Pro) | |
10 | g.79557501T= | CA1922244433 | SFTPA2 | c.455A= (p.Gln152=) c.506A= (p.Gln169=) c.485A= (p.Gln162=) | |
10 | g.79557502del | CA2609869150 | SFTPA2 | c.454del (p.Gln152ArgfsTer27) c.454del (p.Gln152ArgfsTer?) c.505del (p.Gln169ArgfsTer27) c.484del (p.Gln162ArgfsTer27) | gnomAD v4 |
10 | g.79557502G>A | CA377353208 | SFTPA2 | c.454C>T (p.Gln152Ter) c.505C>T (p.Gln169Ter) c.484C>T (p.Gln162Ter) | |
10 | g.79557502G>C | CA377353209 | SFTPA2 | c.454C>G (p.Gln152Glu) c.505C>G (p.Gln169Glu) c.484C>G (p.Gln162Glu) | |
10 | g.79557502G>T | CA377353210 | SFTPA2 | c.454C>A (p.Gln152Lys) c.505C>A (p.Gln169Lys) c.484C>A (p.Gln162Lys) | |
10 | g.79557503A>C | CA377353211 | SFTPA2 | c.453T>G (p.Ile151Met) c.504T>G (p.Ile168Met) c.483T>G (p.Ile161Met) | |
10 | g.79557503A>G | CA470414626 | SFTPA2 | c.453T>C (p.Ile151=) c.504T>C (p.Ile168=) c.483T>C (p.Ile161=) | |
10 | g.79557503A>T | CA470414627 | SFTPA2 | c.453T>A (p.Ile151=) c.504T>A (p.Ile168=) c.483T>A (p.Ile161=) | |
10 | g.79557504A= | CA1922244434 | SFTPA2 | c.452T= (p.Ile151=) c.503T= (p.Ile168=) c.482T= (p.Ile161=) | |
10 | g.79557504A>C | CA377353212 | SFTPA2 | c.452T>G (p.Ile151Ser) c.503T>G (p.Ile168Ser) c.482T>G (p.Ile161Ser) | |
10 | g.79557504A>G | CA210248380 | SFTPA2 | c.452T>C (p.Ile151Thr) c.503T>C (p.Ile168Thr) c.482T>C (p.Ile161Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557504A>T | CA377353213 | SFTPA2 | c.452T>A (p.Ile151Asn) c.503T>A (p.Ile168Asn) c.482T>A (p.Ile161Asn) | |
10 | g.79557505T>A | CA377353215 | SFTPA2 | c.451A>T (p.Ile151Phe) c.502A>T (p.Ile168Phe) c.481A>T (p.Ile161Phe) | |
10 | g.79557505T>C | CA377353216 | SFTPA2 | c.451A>G (p.Ile151Val) c.502A>G (p.Ile168Val) c.481A>G (p.Ile161Val) | gnomAD v4 |
10 | g.79557505T>G | CA377353214 | SFTPA2 | c.451A>C (p.Ile151Leu) c.502A>C (p.Ile168Leu) c.481A>C (p.Ile161Leu) | |
10 | g.79557506G>A | CA470414628 | SFTPA2 | c.450C>T (p.Ala150=) c.501C>T (p.Ala167=) c.480C>T (p.Ala160=) | |
10 | g.79557506G>C | CA470414629 | SFTPA2 | c.450C>G (p.Ala150=) c.501C>G (p.Ala167=) c.480C>G (p.Ala160=) | |
10 | g.79557506G>T | CA470414630 | SFTPA2 | c.450C>A (p.Ala150=) c.501C>A (p.Ala167=) c.480C>A (p.Ala160=) | |
10 | g.79557507G>A | CA377353219 | SFTPA2 | c.449C>T (p.Ala150Val) c.500C>T (p.Ala167Val) c.479C>T (p.Ala160Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557507G>C | CA377353217 | SFTPA2 | c.449C>G (p.Ala150Gly) c.500C>G (p.Ala167Gly) c.479C>G (p.Ala160Gly) | |
10 | g.79557507G= | CA1922244435 | SFTPA2 | c.449C= (p.Ala150=) c.500C= (p.Ala167=) c.479C= (p.Ala160=) | |
10 | g.79557507G>T | CA377353218 | SFTPA2 | c.449C>A (p.Ala150Asp) c.500C>A (p.Ala167Asp) c.479C>A (p.Ala160Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557508C>A | CA377353220 | SFTPA2 | c.448G>T (p.Ala150Ser) c.499G>T (p.Ala167Ser) c.478G>T (p.Ala160Ser) | |
10 | g.79557508C>G | CA377353221 | SFTPA2 | c.448G>C (p.Ala150Pro) c.499G>C (p.Ala167Pro) c.478G>C (p.Ala160Pro) | |
10 | g.79557508C>T | CA377353222 | SFTPA2 | c.448G>A (p.Ala150Thr) c.499G>A (p.Ala167Thr) c.478G>A (p.Ala160Thr) | |
10 | g.79557509A>C | CA377353223 | SFTPA2 | c.447T>G (p.Asp149Glu) c.498T>G (p.Asp166Glu) c.477T>G (p.Asp159Glu) | |
10 | g.79557509A>G | CA470414631 | SFTPA2 | c.447T>C (p.Asp149=) c.498T>C (p.Asp166=) c.477T>C (p.Asp159=) | |
10 | g.79557509A>T | CA377353224 | SFTPA2 | c.447T>A (p.Asp149Glu) c.498T>A (p.Asp166Glu) c.477T>A (p.Asp159Glu) | |
10 | g.79557510T>A | CA377353225 | SFTPA2 | c.446A>T (p.Asp149Val) c.497A>T (p.Asp166Val) c.476A>T (p.Asp159Val) | gnomAD v4 |
10 | g.79557510T>C | CA377353226 | SFTPA2 | c.446A>G (p.Asp149Gly) c.497A>G (p.Asp166Gly) c.476A>G (p.Asp159Gly) | |
10 | g.79557510T>G | CA377353227 | SFTPA2 | c.446A>C (p.Asp149Ala) c.497A>C (p.Asp166Ala) c.476A>C (p.Asp159Ala) | |
10 | g.79557511C>A | CA377353228 | SFTPA2 | c.445G>T (p.Asp149Tyr) c.496G>T (p.Asp166Tyr) c.475G>T (p.Asp159Tyr) | gnomAD v4 |
10 | g.79557511C>G | CA377353229 | SFTPA2 | c.445G>C (p.Asp149His) c.496G>C (p.Asp166His) c.475G>C (p.Asp159His) | gnomAD v4 |
10 | g.79557511C>T | CA377353230 | SFTPA2 | c.445G>A (p.Asp149Asn) c.496G>A (p.Asp166Asn) c.475G>A (p.Asp159Asn) | |
10 | g.79557512A>C | CA377353232 | SFTPA2 | c.444T>G (p.Phe148Leu) c.495T>G (p.Phe165Leu) c.474T>G (p.Phe158Leu) | |
10 | g.79557512A>G | CA470414632 | SFTPA2 | c.444T>C (p.Phe148=) c.495T>C (p.Phe165=) c.474T>C (p.Phe158=) | |
10 | g.79557512A>T | CA377353231 | SFTPA2 | c.444T>A (p.Phe148Leu) c.495T>A (p.Phe165Leu) c.474T>A (p.Phe158Leu) | gnomAD v4 |
10 | g.79557513A= | CA1922244436 | SFTPA2 | c.443T= (p.Phe148=) c.494T= (p.Phe165=) c.473T= (p.Phe158=) | |
10 | g.79557513A>C | CA377353233 | SFTPA2 | c.443T>G (p.Phe148Cys) c.494T>G (p.Phe165Cys) c.473T>G (p.Phe158Cys) | |
10 | g.79557513A>G | CA377353234 | SFTPA2 | c.443T>C (p.Phe148Ser) c.494T>C (p.Phe165Ser) c.473T>C (p.Phe158Ser) | dbSNP gnomAD v4 |
10 | g.79557513A>T | CA377353235 | SFTPA2 | c.443T>A (p.Phe148Tyr) c.494T>A (p.Phe165Tyr) c.473T>A (p.Phe158Tyr) | |
10 | g.79557514A>C | CA377353236 | SFTPA2 | c.442T>G (p.Phe148Val) c.493T>G (p.Phe165Val) c.472T>G (p.Phe158Val) | |
10 | g.79557514A>G | CA377353237 | SFTPA2 | c.442T>C (p.Phe148Leu) c.493T>C (p.Phe165Leu) c.472T>C (p.Phe158Leu) | |
10 | g.79557514A>T | CA377353238 | SFTPA2 | c.442T>A (p.Phe148Ile) c.493T>A (p.Phe165Ile) c.472T>A (p.Phe158Ile) | |
10 | g.79557515A= | CA1922244437 | SFTPA2 | c.441T= (p.Thr147=) c.492T= (p.Thr164=) c.471T= (p.Thr157=) | |
10 | g.79557515A>C | CA470414635 | SFTPA2 | c.441T>G (p.Thr147=) c.492T>G (p.Thr164=) c.471T>G (p.Thr157=) | |
10 | g.79557515A>G | CA470414634 | SFTPA2 | c.441T>C (p.Thr147=) c.492T>C (p.Thr164=) c.471T>C (p.Thr157=) | dbSNP |
10 | g.79557515A>T | CA470414633 | SFTPA2 | c.441T>A (p.Thr147=) c.492T>A (p.Thr164=) c.471T>A (p.Thr157=) | |
10 | g.79557516_79557519del | CA2609869152 | SFTPA2 | c.438_441del (p.Thr147LeufsTer?) c.489_492del (p.Thr164LeufsTer?) c.468_471del (p.Thr157LeufsTer?) | gnomAD v4 |
10 | g.79557516G>A | CA377353239 | SFTPA2 | c.440C>T (p.Thr147Ile) c.491C>T (p.Thr164Ile) c.470C>T (p.Thr157Ile) | |
10 | g.79557516G>C | CA377353240 | SFTPA2 | c.440C>G (p.Thr147Ser) c.491C>G (p.Thr164Ser) c.470C>G (p.Thr157Ser) | |
10 | g.79557516G>T | CA377353241 | SFTPA2 | c.440C>A (p.Thr147Asn) c.491C>A (p.Thr164Asn) c.470C>A (p.Thr157Asn) | gnomAD v4 |
10 | g.79557517T>A | CA377353242 | SFTPA2 | c.439A>T (p.Thr147Ser) c.490A>T (p.Thr164Ser) c.469A>T (p.Thr157Ser) | |
10 | g.79557517T>C | CA377353243 | SFTPA2 | c.439A>G (p.Thr147Ala) c.490A>G (p.Thr164Ala) c.469A>G (p.Thr157Ala) | |
10 | g.79557517T>G | CA377353244 | SFTPA2 | c.439A>C (p.Thr147Pro) c.490A>C (p.Thr164Pro) c.469A>C (p.Thr157Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557517T= | CA1922244438 | SFTPA2 | c.439A= (p.Thr147=) c.490A= (p.Thr164=) c.469A= (p.Thr157=) | |
10 | g.79557518G>A | CA470414636 | SFTPA2 | c.438C>T (p.Ile146=) c.489C>T (p.Ile163=) c.468C>T (p.Ile156=) | gnomAD v4 |
10 | g.79557518G>C | CA377353245 | SFTPA2 | c.438C>G (p.Ile146Met) c.489C>G (p.Ile163Met) c.468C>G (p.Ile156Met) | |
10 | g.79557518G= | CA1922244439 | SFTPA2 | c.438C= (p.Ile146=) c.489C= (p.Ile163=) c.468C= (p.Ile156=) | |
10 | g.79557518G>T | CA470414637 | SFTPA2 | c.438C>A (p.Ile146=) c.489C>A (p.Ile163=) c.468C>A (p.Ile156=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557519A>C | CA377353248 | SFTPA2 | c.437T>G (p.Ile146Ser) c.488T>G (p.Ile163Ser) c.467T>G (p.Ile156Ser) | |
10 | g.79557519A>G | CA377353247 | SFTPA2 | c.437T>C (p.Ile146Thr) c.488T>C (p.Ile163Thr) c.467T>C (p.Ile156Thr) | |
10 | g.79557519A>T | CA377353246 | SFTPA2 | c.437T>A (p.Ile146Asn) c.488T>A (p.Ile163Asn) c.467T>A (p.Ile156Asn) | |
10 | g.79557520T>A | CA377353249 | SFTPA2 | c.436A>T (p.Ile146Phe) c.487A>T (p.Ile163Phe) c.466A>T (p.Ile156Phe) | |
10 | g.79557520T>C | CA377353250 | SFTPA2 | c.436A>G (p.Ile146Val) c.487A>G (p.Ile163Val) c.466A>G (p.Ile156Val) | gnomAD v4 |
10 | g.79557520T>G | CA5574038 | SFTPA2 | c.436A>C (p.Ile146Leu) c.487A>C (p.Ile163Leu) c.466A>C (p.Ile156Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557520T= | CA1922244440 | SFTPA2 | c.436A= (p.Ile146=) c.487A= (p.Ile163=) c.466A= (p.Ile156=) | |
10 | g.79557521G>A | CA470414638 | SFTPA2 | c.435C>T (p.Ser145=) c.486C>T (p.Ser162=) c.465C>T (p.Ser155=) | gnomAD v4 |
10 | g.79557521G>C | CA470414640 | SFTPA2 | c.435C>G (p.Ser145=) c.486C>G (p.Ser162=) c.465C>G (p.Ser155=) | |
10 | g.79557521G>T | CA470414639 | SFTPA2 | c.435C>A (p.Ser145=) c.486C>A (p.Ser162=) c.465C>A (p.Ser155=) | |
10 | g.79557522G>A | CA377353251 | SFTPA2 | c.434C>T (p.Ser145Phe) c.485C>T (p.Ser162Phe) c.464C>T (p.Ser155Phe) | |
10 | g.79557522G>C | CA377353252 | SFTPA2 | c.434C>G (p.Ser145Cys) c.485C>G (p.Ser162Cys) c.464C>G (p.Ser155Cys) | |
10 | g.79557522G>T | CA377353253 | SFTPA2 | c.434C>A (p.Ser145Tyr) c.485C>A (p.Ser162Tyr) c.464C>A (p.Ser155Tyr) | |
10 | g.79557523A= | CA1922244441 | SFTPA2 | c.433T= (p.Ser145=) c.484T= (p.Ser162=) c.463T= (p.Ser155=) | |
10 | g.79557523A>C | CA377353256 | SFTPA2 | c.433T>G (p.Ser145Ala) c.484T>G (p.Ser162Ala) c.463T>G (p.Ser155Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557523A>G | CA377353254 | SFTPA2 | c.433T>C (p.Ser145Pro) c.484T>C (p.Ser162Pro) c.463T>C (p.Ser155Pro) | dbSNP gnomAD v4 |
10 | g.79557523A>T | CA377353255 | SFTPA2 | c.433T>A (p.Ser145Thr) c.484T>A (p.Ser162Thr) c.463T>A (p.Ser155Thr) | |
10 | g.79557524_79557525insCAAC | CA2609869153 | SFTPA2 | c.433_434insTGGT (p.Ser145LeufsTer6) c.484_485insTGGT (p.Ser162LeufsTer6) c.463_464insTGGT (p.Ser155LeufsTer6) | gnomAD v4 |
10 | g.79557524C>A | CA377353257 | SFTPA2 | c.432G>T (p.Gln144His) c.483G>T (p.Gln161His) c.462G>T (p.Gln154His) | |
10 | g.79557524C>G | CA377353258 | SFTPA2 | c.432G>C (p.Gln144His) c.483G>C (p.Gln161His) c.462G>C (p.Gln154His) | gnomAD v4 |
10 | g.79557524C>T | CA470414641 | SFTPA2 | c.432G>A (p.Gln144=) c.483G>A (p.Gln161=) c.462G>A (p.Gln154=) | gnomAD v4 |
10 | g.79557525_79557528dup | CA2609869154 | SFTPA2 | c.429_432dup (p.Ser145AlafsTer6) c.480_483dup (p.Ser162AlafsTer6) c.459_462dup (p.Ser155AlafsTer6) | gnomAD v4 |
10 | g.79557525T>A | CA377353259 | SFTPA2 | c.431A>T (p.Gln144Leu) c.482A>T (p.Gln161Leu) c.461A>T (p.Gln154Leu) | |
10 | g.79557525T>C | CA377353260 | SFTPA2 | c.431A>G (p.Gln144Arg) c.482A>G (p.Gln161Arg) c.461A>G (p.Gln154Arg) | |
10 | g.79557525T>G | CA377353261 | SFTPA2 | c.431A>C (p.Gln144Pro) c.482A>C (p.Gln161Pro) c.461A>C (p.Gln154Pro) | |
10 | g.79557526G>A | CA377353262 | SFTPA2 | c.430C>T (p.Gln144Ter) c.481C>T (p.Gln161Ter) c.460C>T (p.Gln154Ter) | |
10 | g.79557526G>C | CA377353264 | SFTPA2 | c.430C>G (p.Gln144Glu) c.481C>G (p.Gln161Glu) c.460C>G (p.Gln154Glu) | |
10 | g.79557526G>T | CA377353263 | SFTPA2 | c.430C>A (p.Gln144Lys) c.481C>A (p.Gln161Lys) c.460C>A (p.Gln154Lys) | |
10 | g.79557527C>A | CA470414642 | SFTPA2 | c.429G>T (p.Gly143=) c.480G>T (p.Gly160=) c.459G>T (p.Gly153=) | dbSNP gnomAD v4 |
10 | g.79557527C= | CA1922244442 | SFTPA2 | c.429G= (p.Gly143=) c.480G= (p.Gly160=) c.459G= (p.Gly153=) | |
10 | g.79557527C>G | CA470414643 | SFTPA2 | c.429G>C (p.Gly143=) c.480G>C (p.Gly160=) c.459G>C (p.Gly153=) | |
10 | g.79557527C>T | CA470414644 | SFTPA2 | c.429G>A (p.Gly143=) c.480G>A (p.Gly160=) c.459G>A (p.Gly153=) | dbSNP |
10 | g.79557528C>A | CA377353265 | SFTPA2 | c.428G>T (p.Gly143Val) c.479G>T (p.Gly160Val) c.458G>T (p.Gly153Val) | |
10 | g.79557528C>G | CA377353266 | SFTPA2 | c.428G>C (p.Gly143Ala) c.479G>C (p.Gly160Ala) c.458G>C (p.Gly153Ala) | |
10 | g.79557528C>T | CA377353267 | SFTPA2 | c.428G>A (p.Gly143Glu) c.479G>A (p.Gly160Glu) c.458G>A (p.Gly153Glu) | |
10 | g.79557529C>A | CA377353268 | SFTPA2 | c.427G>T (p.Gly143Trp) c.478G>T (p.Gly160Trp) c.457G>T (p.Gly153Trp) | |
10 | g.79557529C= | CA1922244443 | SFTPA2 | c.427G= (p.Gly143=) c.478G= (p.Gly160=) c.457G= (p.Gly153=) | |
10 | g.79557529C>G | CA377353269 | SFTPA2 | c.427G>C (p.Gly143Arg) c.478G>C (p.Gly160Arg) c.457G>C (p.Gly153Arg) | |
10 | g.79557529C>T | CA377353270 | SFTPA2 | c.427G>A (p.Gly143Arg) c.478G>A (p.Gly160Arg) c.457G>A (p.Gly153Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557530A= | CA1922244444 | SFTPA2 | c.426T= (p.Asn142=) c.477T= (p.Asn159=) c.456T= (p.Asn152=) | |
10 | g.79557530A>C | CA377353271 | SFTPA2 | c.426T>G (p.Asn142Lys) c.477T>G (p.Asn159Lys) c.456T>G (p.Asn152Lys) | |
10 | g.79557530A>G | CA210248395 | SFTPA2 | c.426T>C (p.Asn142=) c.477T>C (p.Asn159=) c.456T>C (p.Asn152=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557530A>T | CA377353272 | SFTPA2 | c.426T>A (p.Asn142Lys) c.477T>A (p.Asn159Lys) c.456T>A (p.Asn152Lys) | |
10 | g.79557531T>A | CA377353273 | SFTPA2 | c.425A>T (p.Asn142Ile) c.476A>T (p.Asn159Ile) c.455A>T (p.Asn152Ile) | dbSNP gnomAD v4 |
10 | g.79557531T>C | CA377353274 | SFTPA2 | c.425A>G (p.Asn142Ser) c.476A>G (p.Asn159Ser) c.455A>G (p.Asn152Ser) | gnomAD v4 |
10 | g.79557531T>G | CA377353275 | SFTPA2 | c.425A>C (p.Asn142Thr) c.476A>C (p.Asn159Thr) c.455A>C (p.Asn152Thr) | |
10 | g.79557531T= | CA1922244445 | SFTPA2 | c.425A= (p.Asn142=) c.476A= (p.Asn159=) c.455A= (p.Asn152=) | |
10 | g.79557532T>A | CA377353278 | SFTPA2 | c.424A>T (p.Asn142Tyr) c.475A>T (p.Asn159Tyr) c.454A>T (p.Asn152Tyr) | gnomAD v4 |
10 | g.79557532T>C | CA377353277 | SFTPA2 | c.424A>G (p.Asn142Asp) c.475A>G (p.Asn159Asp) c.454A>G (p.Asn152Asp) | gnomAD v4 |
10 | g.79557532T>G | CA377353276 | SFTPA2 | c.424A>C (p.Asn142His) c.475A>C (p.Asn159His) c.454A>C (p.Asn152His) | |
10 | g.79557533G>A | CA470414645 | SFTPA2 | c.423C>T (p.Ser141=) c.474C>T (p.Ser158=) c.453C>T (p.Ser151=) | |
10 | g.79557533G>C | CA377353279 | SFTPA2 | c.423C>G (p.Ser141Arg) c.474C>G (p.Ser158Arg) c.453C>G (p.Ser151Arg) | |
10 | g.79557533G>T | CA377353280 | SFTPA2 | c.423C>A (p.Ser141Arg) c.474C>A (p.Ser158Arg) c.453C>A (p.Ser151Arg) | |
10 | g.79557534C>A | CA377353281 | SFTPA2 | c.422G>T (p.Ser141Ile) c.473G>T (p.Ser158Ile) c.452G>T (p.Ser151Ile) | |
10 | g.79557534C>G | CA377353282 | SFTPA2 | c.422G>C (p.Ser141Thr) c.473G>C (p.Ser158Thr) c.452G>C (p.Ser151Thr) | |
10 | g.79557534C>T | CA377353283 | SFTPA2 | c.422G>A (p.Ser141Asn) c.473G>A (p.Ser158Asn) c.452G>A (p.Ser151Asn) | gnomAD v4 |
10 | g.79557535T>A | CA377353284 | SFTPA2 | c.421A>T (p.Ser141Cys) c.472A>T (p.Ser158Cys) c.451A>T (p.Ser151Cys) | |
10 | g.79557535T>C | CA377353285 | SFTPA2 | c.421A>G (p.Ser141Gly) c.472A>G (p.Ser158Gly) c.451A>G (p.Ser151Gly) | |
10 | g.79557535T>G | CA377353286 | SFTPA2 | c.421A>C (p.Ser141Arg) c.472A>C (p.Ser158Arg) c.451A>C (p.Ser151Arg) | dbSNP gnomAD v4 |
10 | g.79557536G>A | CA5574039 | SFTPA2 | c.420C>T (p.Ser140=) c.471C>T (p.Ser157=) c.450C>T (p.Ser150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557536G>C | CA470414652 | SFTPA2 | c.420C>G (p.Ser140=) c.471C>G (p.Ser157=) c.450C>G (p.Ser150=) | dbSNP |
10 | g.79557536G= | CA1630848393 | SFTPA2 | c.420C= (p.Ser140=) c.471C= (p.Ser157=) c.450C= (p.Ser150=) | |
10 | g.79557536G>T | CA470414653 | SFTPA2 | c.420C>A (p.Ser140=) c.471C>A (p.Ser157=) c.450C>A (p.Ser150=) |