Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
10 | g.79557423A>C | CA377353042 | SFTPA2 | c.533T>G (p.Val178Gly) c.584T>G (p.Val195Gly) c.563T>G (p.Val188Gly) | |
10 | g.79557423A>G | CA377353043 | SFTPA2 | c.533T>C (p.Val178Ala) c.584T>C (p.Val195Ala) c.563T>C (p.Val188Ala) | |
10 | g.79557423A>T | CA377353044 | SFTPA2 | c.533T>A (p.Val178Glu) c.584T>A (p.Val195Glu) c.563T>A (p.Val188Glu) | |
10 | g.79557424C>A | CA5574017 | SFTPA2 | c.532G>T (p.Val178Leu) c.583G>T (p.Val195Leu) c.562G>T (p.Val188Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557424C= | CA1922240922 | SFTPA2 | c.532G= (p.Val178=) c.583G= (p.Val195=) c.562G= (p.Val188=) | |
10 | g.79557424C>G | CA377353045 | SFTPA2 | c.532G>C (p.Val178Leu) c.583G>C (p.Val195Leu) c.562G>C (p.Val188Leu) | gnomAD v4 |
10 | g.79557424C>T | CA5574018 | SFTPA2 | c.532G>A (p.Val178Met) c.583G>A (p.Val195Met) c.562G>A (p.Val188Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557425G>A | CA5574019 | SFTPA2 | c.531C>T (p.Phe177=) c.582C>T (p.Phe194=) c.561C>T (p.Phe187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557425G>C | CA377353047 | SFTPA2 | c.531C>G (p.Phe177Leu) c.582C>G (p.Phe194Leu) c.561C>G (p.Phe187Leu) | gnomAD v4 |
10 | g.79557425G= | CA1922240929 | SFTPA2 | c.531C= (p.Phe177=) c.582C= (p.Phe194=) c.561C= (p.Phe187=) | |
10 | g.79557425G>T | CA377353046 | SFTPA2 | c.531C>A (p.Phe177Leu) c.582C>A (p.Phe194Leu) c.561C>A (p.Phe187Leu) | gnomAD v4 |
10 | g.79557426A= | CA1922240935 | SFTPA2 | c.530T= (p.Phe177=) c.581T= (p.Phe194=) c.560T= (p.Phe187=) | |
10 | g.79557426A>C | CA210248320 | SFTPA2 | c.530T>G (p.Phe177Cys) c.581T>G (p.Phe194Cys) c.560T>G (p.Phe187Cys) | dbSNP |
10 | g.79557426A>G | CA5574021 | SFTPA2 | c.530T>C (p.Phe177Ser) c.581T>C (p.Phe194Ser) c.560T>C (p.Phe187Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557426A>T | CA5574020 | SFTPA2 | c.530T>A (p.Phe177Tyr) c.581T>A (p.Phe194Tyr) c.560T>A (p.Phe187Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557427A>C | CA377353048 | SFTPA2 | c.529T>G (p.Phe177Val) c.580T>G (p.Phe194Val) c.559T>G (p.Phe187Val) | |
10 | g.79557427A>G | CA377353050 | SFTPA2 | c.529T>C (p.Phe177Leu) c.580T>C (p.Phe194Leu) c.559T>C (p.Phe187Leu) | |
10 | g.79557427A>T | CA377353049 | SFTPA2 | c.529T>A (p.Phe177Ile) c.580T>A (p.Phe194Ile) c.559T>A (p.Phe187Ile) | |
10 | g.79557428G>A | CA470414579 | SFTPA2 | c.528C>T (p.Ser176=) c.579C>T (p.Ser193=) c.558C>T (p.Ser186=) | |
10 | g.79557428G>C | CA377353051 | SFTPA2 | c.528C>G (p.Ser176Arg) c.579C>G (p.Ser193Arg) c.558C>G (p.Ser186Arg) | |
10 | g.79557428G>T | CA377353052 | SFTPA2 | c.528C>A (p.Ser176Arg) c.579C>A (p.Ser193Arg) c.558C>A (p.Ser186Arg) | |
10 | g.79557429C>A | CA377353053 | SFTPA2 | c.527G>T (p.Ser176Ile) c.578G>T (p.Ser193Ile) c.557G>T (p.Ser186Ile) | |
10 | g.79557429C= | CA1922240940 | SFTPA2 | c.527G= (p.Ser176=) c.578G= (p.Ser193=) c.557G= (p.Ser186=) | |
10 | g.79557429C>G | CA377353054 | SFTPA2 | c.527G>C (p.Ser176Thr) c.578G>C (p.Ser193Thr) c.557G>C (p.Ser186Thr) | |
10 | g.79557429C>T | CA377353055 | SFTPA2 | c.527G>A (p.Ser176Asn) c.578G>A (p.Ser193Asn) c.557G>A (p.Ser186Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557430T>A | CA377353056 | SFTPA2 | c.526A>T (p.Ser176Cys) c.577A>T (p.Ser193Cys) c.556A>T (p.Ser186Cys) | |
10 | g.79557430T>C | CA377353057 | SFTPA2 | c.526A>G (p.Ser176Gly) c.577A>G (p.Ser193Gly) c.556A>G (p.Ser186Gly) | |
10 | g.79557430T>G | CA377353058 | SFTPA2 | c.526A>C (p.Ser176Arg) c.577A>C (p.Ser193Arg) c.556A>C (p.Ser186Arg) | |
10 | g.79557431T>A | CA470414580 | SFTPA2 | c.525A>T (p.Ala175=) c.576A>T (p.Ala192=) c.555A>T (p.Ala185=) | gnomAD v4 |
10 | g.79557431T>C | CA470414581 | SFTPA2 | c.525A>G (p.Ala175=) c.576A>G (p.Ala192=) c.555A>G (p.Ala185=) | |
10 | g.79557431T>G | CA470414582 | SFTPA2 | c.525A>C (p.Ala175=) c.576A>C (p.Ala192=) c.555A>C (p.Ala185=) | |
10 | g.79557432G>A | CA377353059 | SFTPA2 | c.524C>T (p.Ala175Val) c.575C>T (p.Ala192Val) c.554C>T (p.Ala185Val) | |
10 | g.79557432G>C | CA377353061 | SFTPA2 | c.524C>G (p.Ala175Gly) c.575C>G (p.Ala192Gly) c.554C>G (p.Ala185Gly) | |
10 | g.79557432G= | CA1922240944 | SFTPA2 | c.524C= (p.Ala175=) c.575C= (p.Ala192=) c.554C= (p.Ala185=) | |
10 | g.79557432G>T | CA377353060 | SFTPA2 | c.524C>A (p.Ala175Glu) c.575C>A (p.Ala192Glu) c.554C>A (p.Ala185Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557433C>A | CA377353062 | SFTPA2 | c.523G>T (p.Ala175Ser) c.574G>T (p.Ala192Ser) c.553G>T (p.Ala185Ser) | |
10 | g.79557433C>G | CA377353063 | SFTPA2 | c.523G>C (p.Ala175Pro) c.574G>C (p.Ala192Pro) c.553G>C (p.Ala185Pro) | |
10 | g.79557433C>T | CA377353064 | SFTPA2 | c.523G>A (p.Ala175Thr) c.574G>A (p.Ala192Thr) c.553G>A (p.Ala185Thr) | |
10 | g.79557434A= | CA1922240946 | SFTPA2 | c.522T= (p.Ile174=) c.573T= (p.Ile191=) c.552T= (p.Ile184=) | |
10 | g.79557434A>C | CA5574022 | SFTPA2 | c.522T>G (p.Ile174Met) c.573T>G (p.Ile191Met) c.552T>G (p.Ile184Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557434A>G | CA470414583 | SFTPA2 | c.522T>C (p.Ile174=) c.573T>C (p.Ile191=) c.552T>C (p.Ile184=) | |
10 | g.79557434A>T | CA470414584 | SFTPA2 | c.522T>A (p.Ile174=) c.573T>A (p.Ile191=) c.552T>A (p.Ile184=) | |
10 | g.79557435A>C | CA377353065 | SFTPA2 | c.521T>G (p.Ile174Ser) c.572T>G (p.Ile191Ser) c.551T>G (p.Ile184Ser) | |
10 | g.79557435A>G | CA377353067 | SFTPA2 | c.521T>C (p.Ile174Thr) c.572T>C (p.Ile191Thr) c.551T>C (p.Ile184Thr) | gnomAD v4 |
10 | g.79557435A>T | CA377353066 | SFTPA2 | c.521T>A (p.Ile174Asn) c.572T>A (p.Ile191Asn) c.551T>A (p.Ile184Asn) | |
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=) |