Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
10 | g.79557537G>A | CA377353289 | SFTPA2 | c.419C>T (p.Ser140Phe) c.470C>T (p.Ser157Phe) c.449C>T (p.Ser150Phe) | gnomAD v4 |
10 | g.79557537G>C | CA377353287 | SFTPA2 | c.419C>G (p.Ser140Cys) c.470C>G (p.Ser157Cys) c.449C>G (p.Ser150Cys) | |
10 | g.79557537G>T | CA377353288 | SFTPA2 | c.419C>A (p.Ser140Tyr) c.470C>A (p.Ser157Tyr) c.449C>A (p.Ser150Tyr) | |
10 | g.79557538del | CA2609869155 | SFTPA2 | c.418del (p.Ser140ProfsTer?) c.469del (p.Ser157ProfsTer?) c.448del (p.Ser150ProfsTer?) | gnomAD v4 |
10 | g.79557538A>C | CA377353290 | SFTPA2 | c.418T>G (p.Ser140Ala) c.469T>G (p.Ser157Ala) c.448T>G (p.Ser150Ala) | |
10 | g.79557538A>G | CA377353291 | SFTPA2 | c.418T>C (p.Ser140Pro) c.469T>C (p.Ser157Pro) c.448T>C (p.Ser150Pro) | |
10 | g.79557538A>T | CA377353292 | SFTPA2 | c.418T>A (p.Ser140Thr) c.469T>A (p.Ser157Thr) c.448T>A (p.Ser150Thr) | |
10 | g.79557539G>A | CA470414663 | SFTPA2 | c.417C>T (p.Phe139=) c.468C>T (p.Phe156=) c.447C>T (p.Phe149=) | gnomAD v4 |
10 | g.79557539G>C | CA377353293 | SFTPA2 | c.417C>G (p.Phe139Leu) c.468C>G (p.Phe156Leu) c.447C>G (p.Phe149Leu) | |
10 | g.79557539G>T | CA377353294 | SFTPA2 | c.417C>A (p.Phe139Leu) c.468C>A (p.Phe156Leu) c.447C>A (p.Phe149Leu) | |
10 | g.79557540A= | CA1922244446 | SFTPA2 | c.416T= (p.Phe139=) c.467T= (p.Phe156=) c.446T= (p.Phe149=) | |
10 | g.79557540A>C | CA5574040 | SFTPA2 | c.416T>G (p.Phe139Cys) c.467T>G (p.Phe156Cys) c.446T>G (p.Phe149Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557540A>G | CA377353296 | SFTPA2 | c.416T>C (p.Phe139Ser) c.467T>C (p.Phe156Ser) c.446T>C (p.Phe149Ser) | |
10 | g.79557540A>T | CA377353295 | SFTPA2 | c.416T>A (p.Phe139Tyr) c.467T>A (p.Phe156Tyr) c.446T>A (p.Phe149Tyr) | |
10 | g.79557541A>C | CA377353297 | SFTPA2 | c.415T>G (p.Phe139Val) c.466T>G (p.Phe156Val) c.445T>G (p.Phe149Val) | |
10 | g.79557541A>G | CA377353298 | SFTPA2 | c.415T>C (p.Phe139Leu) c.466T>C (p.Phe156Leu) c.445T>C (p.Phe149Leu) | |
10 | g.79557541A>T | CA377353299 | SFTPA2 | c.415T>A (p.Phe139Ile) c.466T>A (p.Phe156Ile) c.445T>A (p.Phe149Ile) | |
10 | g.79557542G>A | CA470414676 | SFTPA2 | c.414C>T (p.Val138=) c.465C>T (p.Val155=) c.444C>T (p.Val148=) | gnomAD v4 |
10 | g.79557542G>C | CA470414678 | SFTPA2 | c.414C>G (p.Val138=) c.465C>G (p.Val155=) c.444C>G (p.Val148=) | |
10 | g.79557542G>T | CA470414674 | SFTPA2 | c.414C>A (p.Val138=) c.465C>A (p.Val155=) c.444C>A (p.Val148=) | |
10 | g.79557543A>C | CA377353300 | SFTPA2 | c.413T>G (p.Val138Gly) c.464T>G (p.Val155Gly) c.443T>G (p.Val148Gly) | |
10 | g.79557543A>G | CA377353301 | SFTPA2 | c.413T>C (p.Val138Ala) c.464T>C (p.Val155Ala) c.443T>C (p.Val148Ala) | dbSNP gnomAD v4 |
10 | g.79557543A>T | CA377353302 | SFTPA2 | c.413T>A (p.Val138Asp) c.464T>A (p.Val155Asp) c.443T>A (p.Val148Asp) | gnomAD v4 |
10 | g.79557544C>A | CA377353303 | SFTPA2 | c.412G>T (p.Val138Phe) c.463G>T (p.Val155Phe) c.442G>T (p.Val148Phe) | |
10 | g.79557544C>G | CA377353304 | SFTPA2 | c.412G>C (p.Val138Leu) c.463G>C (p.Val155Leu) c.442G>C (p.Val148Leu) | |
10 | g.79557544C>T | CA377353305 | SFTPA2 | c.412G>A (p.Val138Ile) c.463G>A (p.Val155Ile) c.442G>A (p.Val148Ile) | gnomAD v4 |
10 | g.79557545C>A | CA377353306 | SFTPA2 | c.411G>T (p.Lys137Asn) c.462G>T (p.Lys154Asn) c.441G>T (p.Lys147Asn) | gnomAD v4 |
10 | g.79557545C>G | CA377353307 | SFTPA2 | c.411G>C (p.Lys137Asn) c.462G>C (p.Lys154Asn) c.441G>C (p.Lys147Asn) | |
10 | g.79557545C>T | CA470414688 | SFTPA2 | c.411G>A (p.Lys137=) c.462G>A (p.Lys154=) c.441G>A (p.Lys147=) | gnomAD v4 |
10 | g.79557547_79557549del | CA2609869157 | SFTPA2 | c.409_411del (p.Lys137del) c.460_462del (p.Lys154del) c.439_441del (p.Lys147del) | gnomAD v4 |
10 | g.79557546T>A | CA377353308 | SFTPA2 | c.410A>T (p.Lys137Met) c.461A>T (p.Lys154Met) c.440A>T (p.Lys147Met) | gnomAD v4 |
10 | g.79557546T>C | CA377353310 | SFTPA2 | c.410A>G (p.Lys137Arg) c.461A>G (p.Lys154Arg) c.440A>G (p.Lys147Arg) | |
10 | g.79557546T>G | CA377353309 | SFTPA2 | c.410A>C (p.Lys137Thr) c.461A>C (p.Lys154Thr) c.440A>C (p.Lys147Thr) | |
10 | g.79557547T>A | CA377353311 | SFTPA2 | c.409A>T (p.Lys137Ter) c.460A>T (p.Lys154Ter) c.439A>T (p.Lys147Ter) | |
10 | g.79557547T>C | CA377353312 | SFTPA2 | c.409A>G (p.Lys137Glu) c.460A>G (p.Lys154Glu) c.439A>G (p.Lys147Glu) | |
10 | g.79557547T>G | CA377353313 | SFTPA2 | c.409A>C (p.Lys137Gln) c.460A>C (p.Lys154Gln) c.439A>C (p.Lys147Gln) | |
10 | g.79557548C>A | CA377353314 | SFTPA2 | c.408G>T (p.Glu136Asp) c.459G>T (p.Glu153Asp) c.438G>T (p.Glu146Asp) | |
10 | g.79557548C>G | CA377353315 | SFTPA2 | c.408G>C (p.Glu136Asp) c.459G>C (p.Glu153Asp) c.438G>C (p.Glu146Asp) | |
10 | g.79557548C>T | CA470414699 | SFTPA2 | c.408G>A (p.Glu136=) c.459G>A (p.Glu153=) c.438G>A (p.Glu146=) | |
10 | g.79557549T>A | CA377353316 | SFTPA2 | c.407A>T (p.Glu136Val) c.458A>T (p.Glu153Val) c.437A>T (p.Glu146Val) | |
10 | g.79557549T>C | CA377353317 | SFTPA2 | c.407A>G (p.Glu136Gly) c.458A>G (p.Glu153Gly) c.437A>G (p.Glu146Gly) | gnomAD v4 |
10 | g.79557549T>G | CA377353318 | SFTPA2 | c.407A>C (p.Glu136Ala) c.458A>C (p.Glu153Ala) c.437A>C (p.Glu146Ala) | |
10 | g.79557550C>A | CA377353319 | SFTPA2 | c.406G>T (p.Glu136Ter) c.457G>T (p.Glu153Ter) c.436G>T (p.Glu146Ter) | |
10 | g.79557550C= | CA1922244447 | SFTPA2 | c.406G= (p.Glu136=) c.457G= (p.Glu153=) c.436G= (p.Glu146=) | |
10 | g.79557550C>G | CA377353320 | SFTPA2 | c.406G>C (p.Glu136Gln) c.457G>C (p.Glu153Gln) c.436G>C (p.Glu146Gln) | |
10 | g.79557550C>T | CA5574041 | SFTPA2 | c.406G>A (p.Glu136Lys) c.457G>A (p.Glu153Lys) c.436G>A (p.Glu146Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557551T>A | CA470414709 | SFTPA2 | c.405A>T (p.Gly135=) c.456A>T (p.Gly152=) c.435A>T (p.Gly145=) | |
10 | g.79557551T>C | CA470414711 | SFTPA2 | c.405A>G (p.Gly135=) c.456A>G (p.Gly152=) c.435A>G (p.Gly145=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557551T>G | CA470414712 | SFTPA2 | c.405A>C (p.Gly135=) c.456A>C (p.Gly152=) c.435A>C (p.Gly145=) | |
10 | g.79557551T= | CA1922244448 | SFTPA2 | c.405A= (p.Gly135=) c.456A= (p.Gly152=) c.435A= (p.Gly145=) | |
10 | g.79557551_79557552insAG | CA2609869158 | SFTPA2 | c.404_405insCT (p.Glu136Ter) c.455_456insCT (p.Glu153Ter) c.434_435insCT (p.Glu146Ter) | gnomAD v4 |
10 | g.79557552C>A | CA377353322 | SFTPA2 | c.404G>T (p.Gly135Val) c.455G>T (p.Gly152Val) c.434G>T (p.Gly145Val) | |
10 | g.79557552C= | CA1922244449 | SFTPA2 | c.404G= (p.Gly135=) c.455G= (p.Gly152=) c.434G= (p.Gly145=) | |
10 | g.79557552C>G | CA210248420 | SFTPA2 | c.404G>C (p.Gly135Ala) c.455G>C (p.Gly152Ala) c.434G>C (p.Gly145Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557552C>T | CA377353321 | SFTPA2 | c.404G>A (p.Gly135Glu) c.455G>A (p.Gly152Glu) c.434G>A (p.Gly145Glu) | gnomAD v4 |
10 | g.79557553C>A | CA377353323 | SFTPA2 | c.403G>T (p.Gly135Ter) c.454G>T (p.Gly152Ter) c.433G>T (p.Gly145Ter) | |
10 | g.79557553C= | CA1922244450 | SFTPA2 | c.403G= (p.Gly135=) c.454G= (p.Gly152=) c.433G= (p.Gly145=) | |
10 | g.79557553C>G | CA377353324 | SFTPA2 | c.403G>C (p.Gly135Arg) c.454G>C (p.Gly152Arg) c.433G>C (p.Gly145Arg) | gnomAD v4 |
10 | g.79557553C>T | CA210248421 | SFTPA2 | c.403G>A (p.Gly135Arg) c.454G>A (p.Gly152Arg) c.433G>A (p.Gly145Arg) | dbSNP gnomAD v4 |
10 | g.79557555_79557557dup | CA594711239 | SFTPA2 | c.401_403dup (p.Val134_Gly135insVal) c.452_454dup (p.Val151_Gly152insVal) c.431_433dup (p.Val144_Gly145insVal) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557554T>A | CA470414723 | SFTPA2 | c.402A>T (p.Val134=) c.453A>T (p.Val151=) c.432A>T (p.Val144=) | |
10 | g.79557554T>C | CA470414725 | SFTPA2 | c.402A>G (p.Val134=) c.453A>G (p.Val151=) c.432A>G (p.Val144=) | |
10 | g.79557554T>G | CA470414727 | SFTPA2 | c.402A>C (p.Val134=) c.453A>C (p.Val151=) c.432A>C (p.Val144=) | |
10 | g.79557555A= | CA1922244451 | SFTPA2 | c.401T= (p.Val134=) c.452T= (p.Val151=) c.431T= (p.Val144=) | |
10 | g.79557555A>C | CA377353325 | SFTPA2 | c.401T>G (p.Val134Gly) c.452T>G (p.Val151Gly) c.431T>G (p.Val144Gly) | |
10 | g.79557555A>G | CA5574042 | SFTPA2 | c.401T>C (p.Val134Ala) c.452T>C (p.Val151Ala) c.431T>C (p.Val144Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557555A>T | CA377353326 | SFTPA2 | c.401T>A (p.Val134Glu) c.452T>A (p.Val151Glu) c.431T>A (p.Val144Glu) | |
10 | g.79557556C>A | CA377353327 | SFTPA2 | c.400G>T (p.Val134Leu) c.451G>T (p.Val151Leu) c.430G>T (p.Val144Leu) | |
10 | g.79557556C= | CA1922244452 | SFTPA2 | c.400G= (p.Val134=) c.451G= (p.Val151=) c.430G= (p.Val144=) | |
10 | g.79557556C>G | CA377353328 | SFTPA2 | c.400G>C (p.Val134Leu) c.451G>C (p.Val151Leu) c.430G>C (p.Val144Leu) | |
10 | g.79557556C>T | CA5574043 | SFTPA2 | c.400G>A (p.Val134Ile) c.451G>A (p.Val151Ile) c.430G>A (p.Val144Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557557T>A | CA470414736 | SFTPA2 | c.399A>T (p.Thr133=) c.450A>T (p.Thr150=) c.429A>T (p.Thr143=) | |
10 | g.79557557T>C | CA5574044 | SFTPA2 | c.399A>G (p.Thr133=) c.450A>G (p.Thr150=) c.429A>G (p.Thr143=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557557T>G | CA470414739 | SFTPA2 | c.399A>C (p.Thr133=) c.450A>C (p.Thr150=) c.429A>C (p.Thr143=) | |
10 | g.79557557T= | CA1922244453 | SFTPA2 | c.399A= (p.Thr133=) c.450A= (p.Thr150=) c.429A= (p.Thr143=) | |
10 | g.79557558G>A | CA377353329 | SFTPA2 | c.398C>T (p.Thr133Ile) c.449C>T (p.Thr150Ile) c.428C>T (p.Thr143Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557558G>C | CA377353330 | SFTPA2 | c.398C>G (p.Thr133Arg) c.449C>G (p.Thr150Arg) c.428C>G (p.Thr143Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557558G= | CA1922244454 | SFTPA2 | c.398C= (p.Thr133=) c.449C= (p.Thr150=) c.428C= (p.Thr143=) | |
10 | g.79557558G>T | CA377353331 | SFTPA2 | c.398C>A (p.Thr133Lys) c.449C>A (p.Thr150Lys) c.428C>A (p.Thr143Lys) | |
10 | g.79557559del | CA2609869159 | SFTPA2 | c.397del (p.Thr133GlnfsTer2) c.448del (p.Thr150GlnfsTer2) c.427del (p.Thr143GlnfsTer2) | gnomAD v4 |
10 | g.79557559T>A | CA377353334 | SFTPA2 | c.397A>T (p.Thr133Ser) c.448A>T (p.Thr150Ser) c.427A>T (p.Thr143Ser) | |
10 | g.79557559T>C | CA377353333 | SFTPA2 | c.397A>G (p.Thr133Ala) c.448A>G (p.Thr150Ala) c.427A>G (p.Thr143Ala) | dbSNP |
10 | g.79557559T>G | CA377353332 | SFTPA2 | c.397A>C (p.Thr133Pro) c.448A>C (p.Thr150Pro) c.427A>C (p.Thr143Pro) | |
10 | g.79557559T= | CA1922244455 | SFTPA2 | c.397A= (p.Thr133=) c.448A= (p.Thr150=) c.427A= (p.Thr143=) | |
10 | g.79557560C>A | CA377353336 | SFTPA2 | c.396G>T (p.Met132Ile) c.447G>T (p.Met149Ile) c.426G>T (p.Met142Ile) | gnomAD v4 |
10 | g.79557560C>G | CA377353335 | SFTPA2 | c.396G>C (p.Met132Ile) c.447G>C (p.Met149Ile) c.426G>C (p.Met142Ile) | |
10 | g.79557560C>T | CA377353337 | SFTPA2 | c.396G>A (p.Met132Ile) c.447G>A (p.Met149Ile) c.426G>A (p.Met142Ile) | |
10 | g.79557561A= | CA1922244456 | SFTPA2 | c.395T= (p.Met132=) c.446T= (p.Met149=) c.425T= (p.Met142=) | |
10 | g.79557561A>C | CA377353338 | SFTPA2 | c.395T>G (p.Met132Arg) c.446T>G (p.Met149Arg) c.425T>G (p.Met142Arg) | |
10 | g.79557561A>G | CA210248434 | SFTPA2 | c.395T>C (p.Met132Thr) c.446T>C (p.Met149Thr) c.425T>C (p.Met142Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557561A>T | CA377353339 | SFTPA2 | c.395T>A (p.Met132Lys) c.446T>A (p.Met149Lys) c.425T>A (p.Met142Lys) | |
10 | g.79557563_79557565del | CA2609869160 | SFTPA2 | c.393_395del (p.Ile131del) c.444_446del (p.Ile148del) c.423_425del (p.Ile141del) | gnomAD v4 |
10 | g.79557562T>A | CA377353340 | SFTPA2 | c.394A>T (p.Met132Leu) c.445A>T (p.Met149Leu) c.424A>T (p.Met142Leu) | |
10 | g.79557562T>C | CA377353341 | SFTPA2 | c.394A>G (p.Met132Val) c.445A>G (p.Met149Val) c.424A>G (p.Met142Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557562T>G | CA377353342 | SFTPA2 | c.394A>C (p.Met132Leu) c.445A>C (p.Met149Leu) c.424A>C (p.Met142Leu) | |
10 | g.79557562T= | CA1922244457 | SFTPA2 | c.394A= (p.Met132=) c.445A= (p.Met149=) c.424A= (p.Met142=) | |
10 | g.79557562_79557563del | CA2609869161 | SFTPA2 | c.393_394del (p.Met132AspfsTer17) c.444_445del (p.Met149AspfsTer17) c.423_424del (p.Met142AspfsTer17) | gnomAD v4 |
10 | g.79557563T>A | CA470414758 | SFTPA2 | c.393A>T (p.Ile131=) c.444A>T (p.Ile148=) c.423A>T (p.Ile141=) | |
10 | g.79557563T>C | CA377353343 | SFTPA2 | c.393A>G (p.Ile131Met) c.444A>G (p.Ile148Met) c.423A>G (p.Ile141Met) | |
10 | g.79557563T>G | CA470414760 | SFTPA2 | c.393A>C (p.Ile131=) c.444A>C (p.Ile148=) c.423A>C (p.Ile141=) | gnomAD v4 |
10 | g.79557564A= | CA1922244458 | SFTPA2 | c.392T= (p.Ile131=) c.443T= (p.Ile148=) c.422T= (p.Ile141=) | |
10 | g.79557564A>C | CA377353344 | SFTPA2 | c.392T>G (p.Ile131Arg) c.443T>G (p.Ile148Arg) c.422T>G (p.Ile141Arg) | |
10 | g.79557564A>G | CA377353345 | SFTPA2 | c.392T>C (p.Ile131Thr) c.443T>C (p.Ile148Thr) c.422T>C (p.Ile141Thr) | |
10 | g.79557564A>T | CA5574045 | SFTPA2 | c.392T>A (p.Ile131Lys) c.443T>A (p.Ile148Lys) c.422T>A (p.Ile141Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557565T>A | CA377353346 | SFTPA2 | c.391A>T (p.Ile131Leu) c.442A>T (p.Ile148Leu) c.421A>T (p.Ile141Leu) | |
10 | g.79557565T>C | CA377353347 | SFTPA2 | c.391A>G (p.Ile131Val) c.442A>G (p.Ile148Val) c.421A>G (p.Ile141Val) | gnomAD v4 |
10 | g.79557565T>G | CA377353348 | SFTPA2 | c.391A>C (p.Ile131Leu) c.442A>C (p.Ile148Leu) c.421A>C (p.Ile141Leu) | dbSNP |
10 | g.79557565T= | CA1922244459 | SFTPA2 | c.391A= (p.Ile131=) c.442A= (p.Ile148=) c.421A= (p.Ile141=) | |
10 | g.79557566G>A | CA5574046 | SFTPA2 | c.390C>T (p.Ser130=) c.441C>T (p.Ser147=) c.420C>T (p.Ser140=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557566G>C | CA470414771 | SFTPA2 | c.390C>G (p.Ser130=) c.441C>G (p.Ser147=) c.420C>G (p.Ser140=) | |
10 | g.79557566G= | CA1922244460 | SFTPA2 | c.390C= (p.Ser130=) c.441C= (p.Ser147=) c.420C= (p.Ser140=) | |
10 | g.79557566G>T | CA470414773 | SFTPA2 | c.390C>A (p.Ser130=) c.441C>A (p.Ser147=) c.420C>A (p.Ser140=) | |
10 | g.79557567G>A | CA377353349 | SFTPA2 | c.389C>T (p.Ser130Phe) c.440C>T (p.Ser147Phe) c.419C>T (p.Ser140Phe) | gnomAD v4 |
10 | g.79557567G>C | CA377353350 | SFTPA2 | c.389C>G (p.Ser130Cys) c.440C>G (p.Ser147Cys) c.419C>G (p.Ser140Cys) | dbSNP |
10 | g.79557567G= | CA1922244461 | SFTPA2 | c.389C= (p.Ser130=) c.440C= (p.Ser147=) c.419C= (p.Ser140=) | |
10 | g.79557567G>T | CA377353351 | SFTPA2 | c.389C>A (p.Ser130Tyr) c.440C>A (p.Ser147Tyr) c.419C>A (p.Ser140Tyr) | |
10 | g.79557568A>C | CA377353352 | SFTPA2 | c.388T>G (p.Ser130Ala) c.439T>G (p.Ser147Ala) c.418T>G (p.Ser140Ala) | |
10 | g.79557568A>G | CA377353353 | SFTPA2 | c.388T>C (p.Ser130Pro) c.439T>C (p.Ser147Pro) c.418T>C (p.Ser140Pro) | |
10 | g.79557568A>T | CA377353354 | SFTPA2 | c.388T>A (p.Ser130Thr) c.439T>A (p.Ser147Thr) c.418T>A (p.Ser140Thr) | |
10 | g.79557569G>A | CA470414787 | SFTPA2 | c.387C>T (p.Gly129=) c.438C>T (p.Gly146=) c.417C>T (p.Gly139=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557569G>C | CA470414788 | SFTPA2 | c.387C>G (p.Gly129=) c.438C>G (p.Gly146=) c.417C>G (p.Gly139=) | |
10 | g.79557569G= | CA1922244462 | SFTPA2 | c.387C= (p.Gly129=) c.438C= (p.Gly146=) c.417C= (p.Gly139=) | |
10 | g.79557569G>T | CA470414790 | SFTPA2 | c.387C>A (p.Gly129=) c.438C>A (p.Gly146=) c.417C>A (p.Gly139=) | |
10 | g.79557570C>A | CA377353355 | SFTPA2 | c.386G>T (p.Gly129Val) c.437G>T (p.Gly146Val) c.416G>T (p.Gly139Val) | |
10 | g.79557570C= | CA1922244463 | SFTPA2 | c.386G= (p.Gly129=) c.437G= (p.Gly146=) c.416G= (p.Gly139=) | |
10 | g.79557570C>G | CA377353356 | SFTPA2 | c.386G>C (p.Gly129Ala) c.437G>C (p.Gly146Ala) c.416G>C (p.Gly139Ala) | |
10 | g.79557570C>T | CA5574047 | SFTPA2 | c.386G>A (p.Gly129Asp) c.437G>A (p.Gly146Asp) c.416G>A (p.Gly139Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557571C>A | CA377353357 | SFTPA2 | c.385G>T (p.Gly129Cys) c.436G>T (p.Gly146Cys) c.415G>T (p.Gly139Cys) | |
10 | g.79557571C>G | CA377353358 | SFTPA2 | c.385G>C (p.Gly129Arg) c.436G>C (p.Gly146Arg) c.415G>C (p.Gly139Arg) | |
10 | g.79557571C>T | CA377353359 | SFTPA2 | c.385G>A (p.Gly129Ser) c.436G>A (p.Gly146Ser) c.415G>A (p.Gly139Ser) | |
10 | g.79557572C>A | CA377353360 | SFTPA2 | c.384G>T (p.Gln128His) c.435G>T (p.Gln145His) c.414G>T (p.Gln138His) | gnomAD v4 |
10 | g.79557572C>G | CA377353361 | SFTPA2 | c.384G>C (p.Gln128His) c.435G>C (p.Gln145His) c.414G>C (p.Gln138His) | |
10 | g.79557572C>T | CA470414800 | SFTPA2 | c.384G>A (p.Gln128=) c.435G>A (p.Gln145=) c.414G>A (p.Gln138=) | gnomAD v4 |
10 | g.79557573T>A | CA377353362 | SFTPA2 | c.383A>T (p.Gln128Leu) c.434A>T (p.Gln145Leu) c.413A>T (p.Gln138Leu) | |
10 | g.79557573T>C | CA377353364 | SFTPA2 | c.383A>G (p.Gln128Arg) c.434A>G (p.Gln145Arg) c.413A>G (p.Gln138Arg) | |
10 | g.79557573T>G | CA377353363 | SFTPA2 | c.383A>C (p.Gln128Pro) c.434A>C (p.Gln145Pro) c.413A>C (p.Gln138Pro) | |
10 | g.79557574G>A | CA5574048 | SFTPA2 | c.382C>T (p.Gln128Ter) c.433C>T (p.Gln145Ter) c.412C>T (p.Gln138Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557574G>C | CA377353365 | SFTPA2 | c.382C>G (p.Gln128Glu) c.433C>G (p.Gln145Glu) c.412C>G (p.Gln138Glu) | |
10 | g.79557574G= | CA1922244464 | SFTPA2 | c.382C= (p.Gln128=) c.433C= (p.Gln145=) c.412C= (p.Gln138=) | |
10 | g.79557574G>T | CA377353366 | SFTPA2 | c.382C>A (p.Gln128Lys) c.433C>A (p.Gln145Lys) c.412C>A (p.Gln138Lys) | COSMIC |
10 | g.79557575C>A | CA470414808 | SFTPA2 | c.381G>T (p.Leu127=) c.432G>T (p.Leu144=) c.411G>T (p.Leu137=) | |
10 | g.79557575C= | CA1922244465 | SFTPA2 | c.381G= (p.Leu127=) c.432G= (p.Leu144=) c.411G= (p.Leu137=) | |
10 | g.79557575C>G | CA470414810 | SFTPA2 | c.381G>C (p.Leu127=) c.432G>C (p.Leu144=) c.411G>C (p.Leu137=) | |
10 | g.79557575C>T | CA470414812 | SFTPA2 | c.381G>A (p.Leu127=) c.432G>A (p.Leu144=) c.411G>A (p.Leu137=) | dbSNP gnomAD v4 |
10 | g.79557576A>C | CA377353367 | SFTPA2 | c.380T>G (p.Leu127Arg) c.431T>G (p.Leu144Arg) c.410T>G (p.Leu137Arg) | |
10 | g.79557576A>G | CA377353368 | SFTPA2 | c.380T>C (p.Leu127Pro) c.431T>C (p.Leu144Pro) c.410T>C (p.Leu137Pro) | |
10 | g.79557576A>T | CA377353369 | SFTPA2 | c.380T>A (p.Leu127Gln) c.431T>A (p.Leu144Gln) c.410T>A (p.Leu137Gln) | |
10 | g.79557577G>A | CA470414819 | SFTPA2 | c.379C>T (p.Leu127=) c.430C>T (p.Leu144=) c.409C>T (p.Leu137=) | |
10 | g.79557577G>C | CA377353370 | SFTPA2 | c.379C>G (p.Leu127Val) c.430C>G (p.Leu144Val) c.409C>G (p.Leu137Val) | |
10 | g.79557577G>T | CA377353371 | SFTPA2 | c.379C>A (p.Leu127Met) c.430C>A (p.Leu144Met) c.409C>A (p.Leu137Met) | gnomAD v4 |
10 | g.79557578A>C | CA377353372 | SFTPA2 | c.378T>G (p.Ser126Arg) c.429T>G (p.Ser143Arg) c.408T>G (p.Ser136Arg) | |
10 | g.79557578A>G | CA470414824 | SFTPA2 | c.378T>C (p.Ser126=) c.429T>C (p.Ser143=) c.408T>C (p.Ser136=) | |
10 | g.79557578A>T | CA377353373 | SFTPA2 | c.378T>A (p.Ser126Arg) c.429T>A (p.Ser143Arg) c.408T>A (p.Ser136Arg) | |
10 | g.79557579C>A | CA377353374 | SFTPA2 | c.377G>T (p.Ser126Ile) c.428G>T (p.Ser143Ile) c.407G>T (p.Ser136Ile) | |
10 | g.79557579C>G | CA377353375 | SFTPA2 | c.377G>C (p.Ser126Thr) c.428G>C (p.Ser143Thr) c.407G>C (p.Ser136Thr) | |
10 | g.79557579C>T | CA377353376 | SFTPA2 | c.377G>A (p.Ser126Asn) c.428G>A (p.Ser143Asn) c.407G>A (p.Ser136Asn) | |
10 | g.79557580T>A | CA377353379 | SFTPA2 | c.376A>T (p.Ser126Cys) c.427A>T (p.Ser143Cys) c.406A>T (p.Ser136Cys) | |
10 | g.79557580T>C | CA377353377 | SFTPA2 | c.376A>G (p.Ser126Gly) c.427A>G (p.Ser143Gly) c.406A>G (p.Ser136Gly) | |
10 | g.79557580T>G | CA377353378 | SFTPA2 | c.376A>C (p.Ser126Arg) c.427A>C (p.Ser143Arg) c.406A>C (p.Ser136Arg) | |
10 | g.79557581G>A | CA470414833 | SFTPA2 | c.375C>T (p.Leu125=) c.426C>T (p.Leu142=) c.405C>T (p.Leu135=) | |
10 | g.79557581G>C | CA470414834 | SFTPA2 | c.375C>G (p.Leu125=) c.426C>G (p.Leu142=) c.405C>G (p.Leu135=) | gnomAD v4 |
10 | g.79557581G>T | CA470414836 | SFTPA2 | c.375C>A (p.Leu125=) c.426C>A (p.Leu142=) c.405C>A (p.Leu135=) | |
10 | g.79557582A>C | CA377353380 | SFTPA2 | c.374T>G (p.Leu125Arg) c.425T>G (p.Leu142Arg) c.404T>G (p.Leu135Arg) | |
10 | g.79557582A>G | CA377353381 | SFTPA2 | c.374T>C (p.Leu125Pro) c.425T>C (p.Leu142Pro) c.404T>C (p.Leu135Pro) | |
10 | g.79557582A>T | CA377353382 | SFTPA2 | c.374T>A (p.Leu125His) c.425T>A (p.Leu142His) c.404T>A (p.Leu135His) | |
10 | g.79557583G>A | CA377353383 | SFTPA2 | c.373C>T (p.Leu125Phe) c.424C>T (p.Leu142Phe) c.403C>T (p.Leu135Phe) | gnomAD v4 |
10 | g.79557583G>C | CA377353384 | SFTPA2 | c.373C>G (p.Leu125Val) c.424C>G (p.Leu142Val) c.403C>G (p.Leu135Val) | |
10 | g.79557583G>T | CA377353385 | SFTPA2 | c.373C>A (p.Leu125Ile) c.424C>A (p.Leu142Ile) c.403C>A (p.Leu135Ile) | |
10 | g.79557584G>A | CA470414850 | SFTPA2 | c.372C>T (p.Ala124=) c.423C>T (p.Ala141=) c.402C>T (p.Ala134=) | gnomAD v4 |
10 | g.79557584G>C | CA470414848 | SFTPA2 | c.372C>G (p.Ala124=) c.423C>G (p.Ala141=) c.402C>G (p.Ala134=) | gnomAD v4 |
10 | g.79557584G>T | CA470414845 | SFTPA2 | c.372C>A (p.Ala124=) c.423C>A (p.Ala141=) c.402C>A (p.Ala134=) | |
10 | g.79557585G>A | CA377353386 | SFTPA2 | c.371C>T (p.Ala124Val) c.422C>T (p.Ala141Val) c.401C>T (p.Ala134Val) | ClinVar gnomAD v4 |
10 | g.79557585G>C | CA377353387 | SFTPA2 | c.371C>G (p.Ala124Gly) c.422C>G (p.Ala141Gly) c.401C>G (p.Ala134Gly) | |
10 | g.79557585G>T | CA377353388 | SFTPA2 | c.371C>A (p.Ala124Asp) c.422C>A (p.Ala141Asp) c.401C>A (p.Ala134Asp) | |
10 | g.79557586C>A | CA377353389 | SFTPA2 | c.371-1G>T (n.371-1G>T) c.422-1G>T (n.422-1G>T) c.401-1G>T (n.401-1G>T) | |
10 | g.79557586C= | CA1922244466 | SFTPA2 | c.371-1G= (n.371-1G=) c.422-1G= (n.422-1G=) c.401-1G= (n.401-1G=) | |
10 | g.79557586C>G | CA377353390 | SFTPA2 | c.371-1G>C (n.371-1G>C) c.422-1G>C (n.422-1G>C) c.401-1G>C (n.401-1G>C) | gnomAD v4 |
10 | g.79557586C>T | CA377353391 | SFTPA2 | c.371-1G>A (n.371-1G>A) c.422-1G>A (n.422-1G>A) c.401-1G>A (n.401-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557587T>A | CA377353393 | SFTPA2 | c.371-2A>T (n.371-2A>T) c.422-2A>T (n.422-2A>T) c.401-2A>T (n.401-2A>T) | |
10 | g.79557587T>C | CA377353394 | SFTPA2 | c.371-2A>G (n.371-2A>G) c.422-2A>G (n.422-2A>G) c.401-2A>G (n.401-2A>G) | |
10 | g.79557587T>G | CA377353392 | SFTPA2 | c.371-2A>C (n.371-2A>C) c.422-2A>C (n.422-2A>C) c.401-2A>C (n.401-2A>C) | |
10 | g.79557590G>C | CA1922244468 | SFTPA2 | c.371-5C>G (n.371-5C>G) c.422-5C>G (n.422-5C>G) c.401-5C>G (n.401-5C>G) | dbSNP gnomAD v4 |
10 | g.79557590G= | CA1922244467 | SFTPA2 | c.371-5C= (n.371-5C=) c.422-5C= (n.422-5C=) c.401-5C= (n.401-5C=) | |
10 | g.79557591A= | CA1922244469 | SFTPA2 | c.371-6T= (n.371-6T=) c.422-6T= (n.422-6T=) c.401-6T= (n.401-6T=) | |
10 | g.79557591A>G | CA2609869172 | SFTPA2 | c.371-6T>C (n.371-6T>C) c.422-6T>C (n.422-6T>C) c.401-6T>C (n.401-6T>C) | gnomAD v4 |
10 | g.79557591A>T | CA594711240 | SFTPA2 | c.371-6T>A (n.371-6T>A) c.422-6T>A (n.422-6T>A) c.401-6T>A (n.401-6T>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557592G>T | CA2609869173 | SFTPA2 | c.371-7C>A (n.371-7C>A) c.422-7C>A (n.422-7C>A) c.401-7C>A (n.401-7C>A) | gnomAD v4 |
10 | g.79557593C= | CA1922244470 | SFTPA2 | c.371-8G= (n.371-8G=) c.422-8G= (n.422-8G=) c.401-8G= (n.401-8G=) | |
10 | g.79557593C>T | CA594711241 | SFTPA2 | c.371-8G>A (n.371-8G>A) c.422-8G>A (n.422-8G>A) c.401-8G>A (n.401-8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557594A>G | CA2609869174 | SFTPA2 | c.371-9T>C (n.371-9T>C) c.422-9T>C (n.422-9T>C) c.401-9T>C (n.401-9T>C) | gnomAD v4 |
10 | g.79557594_79557597delinsAGAG | CA1922244471 | SFTPA2 | c.371-12_371-9delinsCTCT (n.371-12_371-9delinsCTCT) c.422-12_422-9delinsCTCT (n.422-12_422-9delinsCTCT) c.401-12_401-9delinsCTCT (n.401-12_401-9delinsCTCT) | |
10 | g.79557596_79557597del | CA2609869175 | SFTPA2 | c.371-10_371-9del (n.371-10_371-9del) c.422-10_422-9del (n.422-10_422-9del) c.401-10_401-9del (n.401-10_401-9del) | gnomAD v4 |
10 | g.79557595G>A | CA210248453 | SFTPA2 | c.371-10C>T (n.371-10C>T) c.422-10C>T (n.422-10C>T) c.401-10C>T (n.401-10C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557595G= | CA1922244473 | SFTPA2 | c.371-10C= (n.371-10C=) c.422-10C= (n.422-10C=) c.401-10C= (n.401-10C=) | |
10 | g.79557598_79557600del | CA1922244472 | SFTPA2 | c.371-12_371-10del (n.371-12_371-10del) c.422-12_422-10del (n.422-12_422-10del) c.401-12_401-10del (n.401-12_401-10del) | dbSNP |
10 | g.79557597G>C | CA2574596519 | SFTPA2 | c.371-12C>G (n.371-12C>G) c.422-12C>G (n.422-12C>G) c.401-12C>G (n.401-12C>G) | |
10 | g.79557598G>A | CA2574596520 | SFTPA2 | c.371-13C>T (n.371-13C>T) c.422-13C>T (n.422-13C>T) c.401-13C>T (n.401-13C>T) | gnomAD v4 |
10 | g.79557598G>C | CA5574049 | SFTPA2 | c.371-13C>G (n.371-13C>G) c.422-13C>G (n.422-13C>G) c.401-13C>G (n.401-13C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557598G= | CA1922244474 | SFTPA2 | c.371-13C= (n.371-13C=) c.422-13C= (n.422-13C=) c.401-13C= (n.401-13C=) | |
10 | g.79557598G>T | CA2609869177 | SFTPA2 | c.371-13C>A (n.371-13C>A) c.422-13C>A (n.422-13C>A) c.401-13C>A (n.401-13C>A) | gnomAD v4 |
10 | g.79557599A= | CA1922244475 | SFTPA2 | c.371-14T= (n.371-14T=) c.422-14T= (n.422-14T=) c.401-14T= (n.401-14T=) | |
10 | g.79557599A>G | CA594711242 | SFTPA2 | c.371-14T>C (n.371-14T>C) c.422-14T>C (n.422-14T>C) c.401-14T>C (n.401-14T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557599A>T | CA2609869179 | SFTPA2 | c.371-14T>A (n.371-14T>A) c.422-14T>A (n.422-14T>A) c.401-14T>A (n.401-14T>A) | gnomAD v4 |
10 | g.79557599_79557601del | CA2609869178 | SFTPA2 | c.371-16_371-14del (n.371-16_371-14del) c.422-16_422-14del (n.422-16_422-14del) c.401-16_401-14del (n.401-16_401-14del) | gnomAD v4 |
10 | g.79557600del | CA2609869180 | SFTPA2 | c.371-15del (n.371-15del) c.422-15del (n.422-15del) c.401-15del (n.401-15del) | gnomAD v4 |
10 | g.79557600G>C | CA2574596521 | SFTPA2 | c.371-15C>G (n.371-15C>G) c.422-15C>G (n.422-15C>G) c.401-15C>G (n.401-15C>G) | |
10 | g.79557601T>A | CA2574596522 | SFTPA2 | c.371-16A>T (n.371-16A>T) c.422-16A>T (n.422-16A>T) c.401-16A>T (n.401-16A>T) | gnomAD v4 |
10 | g.79557601T>C | CA5574050 | SFTPA2 | c.371-16A>G (n.371-16A>G) c.422-16A>G (n.422-16A>G) c.401-16A>G (n.401-16A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557601T= | CA1922244476 | SFTPA2 | c.371-16A= (n.371-16A=) c.422-16A= (n.422-16A=) c.401-16A= (n.401-16A=) | |
10 | g.79557602C>G | CA2574596523 | SFTPA2 | c.371-17G>C (n.371-17G>C) c.422-17G>C (n.422-17G>C) c.401-17G>C (n.401-17G>C) | |
10 | g.79557602C>T | CA2609869184 | SFTPA2 | c.371-17G>A (n.371-17G>A) c.422-17G>A (n.422-17G>A) c.401-17G>A (n.401-17G>A) | gnomAD v4 |
10 | g.79557603C>A | CA2574596524 | SFTPA2 | c.371-18G>T (n.371-18G>T) c.422-18G>T (n.422-18G>T) c.401-18G>T (n.401-18G>T) | gnomAD v4 |
10 | g.79557603C= | CA1922244477 | SFTPA2 | c.371-18G= (n.371-18G=) c.422-18G= (n.422-18G=) c.401-18G= (n.401-18G=) | |
10 | g.79557603C>T | CA1922244478 | SFTPA2 | c.371-18G>A (n.371-18G>A) c.422-18G>A (n.422-18G>A) c.401-18G>A (n.401-18G>A) | dbSNP |
10 | g.79557604del | CA2609869186 | SFTPA2 | c.371-19del (n.371-19del) c.422-19del (n.422-19del) c.401-19del (n.401-19del) | gnomAD v4 |
10 | g.79557604A= | CA1922244479 | SFTPA2 | c.371-19T= (n.371-19T=) c.422-19T= (n.422-19T=) c.401-19T= (n.401-19T=) | |
10 | g.79557604A>C | CA594711243 | SFTPA2 | c.371-19T>G (n.371-19T>G) c.422-19T>G (n.422-19T>G) c.401-19T>G (n.401-19T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557604A>G | CA5574051 | SFTPA2 | c.371-19T>C (n.371-19T>C) c.422-19T>C (n.422-19T>C) c.401-19T>C (n.401-19T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557604A>T | CA5574052 | SFTPA2 | c.371-19T>A (n.371-19T>A) c.422-19T>A (n.422-19T>A) c.401-19T>A (n.401-19T>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.79557605G>A | CA2609869187 | SFTPA2 | c.371-20C>T (n.371-20C>T) c.422-20C>T (n.422-20C>T) c.401-20C>T (n.401-20C>T) | gnomAD v4 |
10 | g.79557605G>T | CA2609869189 | SFTPA2 | c.371-20C>A (n.371-20C>A) c.422-20C>A (n.422-20C>A) c.401-20C>A (n.401-20C>A) | gnomAD v4 |
10 | g.79557606G>A | CA210248466 | SFTPA2 | c.371-21C>T (n.371-21C>T) c.422-21C>T (n.422-21C>T) c.401-21C>T (n.401-21C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557606G= | CA1922244480 | SFTPA2 | c.371-21C= (n.371-21C=) c.422-21C= (n.422-21C=) c.401-21C= (n.401-21C=) | |
10 | g.79557606G>T | CA668802569 | SFTPA2 | c.371-21C>A (n.371-21C>A) c.422-21C>A (n.422-21C>A) c.401-21C>A (n.401-21C>A) | dbSNP |
10 | g.79557607T>C | CA1922244482 | SFTPA2 | c.371-22A>G (n.371-22A>G) c.422-22A>G (n.422-22A>G) c.401-22A>G (n.401-22A>G) | dbSNP gnomAD v4 |
10 | g.79557607T= | CA1922244481 | SFTPA2 | c.371-22A= (n.371-22A=) c.422-22A= (n.422-22A=) c.401-22A= (n.401-22A=) | |
10 | g.79557608C>G | CA2609869190 | SFTPA2 | c.371-23G>C (n.371-23G>C) c.422-23G>C (n.422-23G>C) c.401-23G>C (n.401-23G>C) | gnomAD v4 |
10 | g.79557608C>T | CA2609869191 | SFTPA2 | c.371-23G>A (n.371-23G>A) c.422-23G>A (n.422-23G>A) c.401-23G>A (n.401-23G>A) | gnomAD v4 |
10 | g.79557609A= | CA1922244483 | SFTPA2 | c.371-24T= (n.371-24T=) c.422-24T= (n.422-24T=) c.401-24T= (n.401-24T=) | |
10 | g.79557609A>G | CA594711244 | SFTPA2 | c.371-24T>C (n.371-24T>C) c.422-24T>C (n.422-24T>C) c.401-24T>C (n.401-24T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557610G>C | CA2609869195 | SFTPA2 | c.371-25C>G (n.371-25C>G) c.422-25C>G (n.422-25C>G) c.401-25C>G (n.401-25C>G) | gnomAD v4 |
10 | g.79557611dup | CA2788683860 | SFTPA2 | c.371-25dup (n.371-25dup) c.422-25dup (n.422-25dup) c.401-25dup (n.401-25dup) | |
10 | g.79557611G>A | CA668802570 | SFTPA2 | c.371-26C>T (n.371-26C>T) c.422-26C>T (n.422-26C>T) c.401-26C>T (n.401-26C>T) | dbSNP gnomAD v4 |
10 | g.79557611G= | CA1922244484 | SFTPA2 | c.371-26C= (n.371-26C=) c.422-26C= (n.422-26C=) c.401-26C= (n.401-26C=) | |
10 | g.79557611_79557612insGCGTTATCTACGGTCATACGGGAGGCGA | CA2534228061 | SFTPA2 | c.371-27_371-26insTCGCCTCCCGTATGACCGTAGATAACGC (n.371-27_371-26insTCGCCTCCCGTATGACCGTAGATAACGC) c.422-27_422-26insTCGCCTCCCGTATGACCGTAGATAACGC (n.422-27_422-26insTCGCCTCCCGTATGACCGTAGATAACGC) c.401-27_401-26insTCGCCTCCCGTATGACCGTAGATAACGC (n.401-27_401-26insTCGCCTCCCGTATGACCGTAGATAACGC) | |
10 | g.79557612C= | CA1922244485 | SFTPA2 | c.371-27G= (n.371-27G=) c.422-27G= (n.422-27G=) c.401-27G= (n.401-27G=) | |
10 | g.79557612C>T | CA930321246 | SFTPA2 | c.371-27G>A (n.371-27G>A) c.422-27G>A (n.422-27G>A) c.401-27G>A (n.401-27G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557612_79557613insGTTATCTACGGTCATACGGGAGGCGACCGGGTTCTTCTCGCTCTGCGGCAGGAAGACCGTGGTACGGCGGTAGCCGGTGGTCAGGACCGCCTCCAGCTTGTG | CA2788683861 | SFTPA2 | c.371-28_371-27insCACAAGCTGGAGGCGGTCCTGACCACCGGCTACCGCCGTACCACGGTCTTCCTGCCGCAGAGCGAGAAGAACCCGGTCGCCTCCCGTATGACCGTAGATAAC (n.371-28_371-27insCACAAGCTGGAGGCGGTCCTGACCACCGGCTACCGCCGTACCACGGTCTTCCTGCCGCAGAGCGAGAAGAACCCGGTCGCCTCCCGTATGACCGTAGATAAC) c.422-28_422-27insCACAAGCTGGAGGCGGTCCTGACCACCGGCTACCGCCGTACCACGGTCTTCCTGCCGCAGAGCGAGAAGAACCCGGTCGCCTCCCGTATGACCGTAGATAAC (n.422-28_422-27insCACAAGCTGGAGGCGGTCCTGACCACCGGCTACCGCCGTACCACGGTCTTCCTGCCGCAGAGCGAGAAGAACCCGGTCGCCTCCCGTATGACCGTAGATAAC) c.401-28_401-27insCACAAGCTGGAGGCGGTCCTGACCACCGGCTACCGCCGTACCACGGTCTTCCTGCCGCAGAGCGAGAAGAACCCGGTCGCCTCCCGTATGACCGTAGATAAC (n.401-28_401-27insCACAAGCTGGAGGCGGTCCTGACCACCGGCTACCGCCGTACCACGGTCTTCCTGCCGCAGAGCGAGAAGAACCCGGTCGCCTCCCGTATGACCGTAGATAAC) | |
10 | g.79557613C>G | CA2609869199 | SFTPA2 | c.371-28G>C (n.371-28G>C) c.422-28G>C (n.422-28G>C) c.401-28G>C (n.401-28G>C) | gnomAD v4 |
10 | g.79557613C>T | CA2609869200 | SFTPA2 | c.371-28G>A (n.371-28G>A) c.422-28G>A (n.422-28G>A) c.401-28G>A (n.401-28G>A) | gnomAD v4 |
10 | g.79557613_79557614insGGGTTCTTCTCGCTCTGCGGCAGGAAG | CA2545910192 | SFTPA2 | c.371-29_371-28insCTTCCTGCCGCAGAGCGAGAAGAACCC (n.371-29_371-28insCTTCCTGCCGCAGAGCGAGAAGAACCC) c.422-29_422-28insCTTCCTGCCGCAGAGCGAGAAGAACCC (n.422-29_422-28insCTTCCTGCCGCAGAGCGAGAAGAACCC) c.401-29_401-28insCTTCCTGCCGCAGAGCGAGAAGAACCC (n.401-29_401-28insCTTCCTGCCGCAGAGCGAGAAGAACCC) | |
10 | g.79557615_79557616insCGTGGTACGGCGGTAGCCGGTGGTCAGAACCGCCTCCAGCTTGTGCACGGGGCCGGCGAGGATATCGCCGAG | CA2544302684 | SFTPA2 | c.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG (n.371-31_371-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG) c.422-31_422-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG (n.422-31_422-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG) c.401-31_401-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG (n.401-31_401-30insCTCGGCGATATCCTCGCCGGCCCCGTGCACAAGCTGGAGGCGGTTCTGACCACCGGCTACCGCCGTACCACG) | |
10 | g.79557616T>C | CA2609869201 | SFTPA2 | c.371-31A>G (n.371-31A>G) c.422-31A>G (n.422-31A>G) c.401-31A>G (n.401-31A>G) | gnomAD v4 |
10 | g.79557617G>T | CA2609869202 | SFTPA2 | c.371-32C>A (n.371-32C>A) c.422-32C>A (n.422-32C>A) c.401-32C>A (n.401-32C>A) | gnomAD v4 |
10 | g.79557618A= | CA1922244486 | SFTPA2 | c.371-33T= (n.371-33T=) c.422-33T= (n.422-33T=) c.401-33T= (n.401-33T=) | |
10 | g.79557618A>G | CA668802573 | SFTPA2 | c.371-33T>C (n.371-33T>C) c.422-33T>C (n.422-33T>C) c.401-33T>C (n.401-33T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557618A>T | CA5574053 | SFTPA2 | c.371-33T>A (n.371-33T>A) c.422-33T>A (n.422-33T>A) c.401-33T>A (n.401-33T>A) | dbSNP ExAC gnomAD v2 |
10 | g.79557619C>T | CA653669346 | SFTPA2 | c.371-34G>A (n.371-34G>A) c.422-34G>A (n.422-34G>A) c.401-34G>A (n.401-34G>A) | COSMIC |
10 | g.79557620C>T | CA2788683862 | SFTPA2 | c.371-35G>A (n.371-35G>A) c.422-35G>A (n.422-35G>A) c.401-35G>A (n.401-35G>A) | |
10 | g.79557621A= | CA1922244488 | SFTPA2 | c.371-36T= (n.371-36T=) c.422-36T= (n.422-36T=) c.401-36T= (n.401-36T=) | |
10 | g.79557621A>G | CA1922244487 | SFTPA2 | c.371-36T>C (n.371-36T>C) c.422-36T>C (n.422-36T>C) c.401-36T>C (n.401-36T>C) | dbSNP |
10 | g.79557622C= | CA1922244489 | SFTPA2 | c.371-37G= (n.371-37G=) c.422-37G= (n.422-37G=) c.401-37G= (n.401-37G=) | |
10 | g.79557622C>G | CA1922244490 | SFTPA2 | c.371-37G>C (n.371-37G>C) c.422-37G>C (n.422-37G>C) c.401-37G>C (n.401-37G>C) | dbSNP |
10 | g.79557624T>C | CA210248487 | SFTPA2 | c.371-39A>G (n.371-39A>G) c.422-39A>G (n.422-39A>G) c.401-39A>G (n.401-39A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557624T= | CA1922244491 | SFTPA2 | c.371-39A= (n.371-39A=) c.422-39A= (n.422-39A=) c.401-39A= (n.401-39A=) | |
10 | g.79557626G>A | CA2609869205 | SFTPA2 | c.371-41C>T (n.371-41C>T) c.422-41C>T (n.422-41C>T) c.401-41C>T (n.401-41C>T) | gnomAD v4 |
10 | g.79557628C>T | CA2574596525 | SFTPA2 | c.371-43G>A (n.371-43G>A) c.422-43G>A (n.422-43G>A) c.401-43G>A (n.401-43G>A) | |
10 | g.79557630C= | CA1922244492 | SFTPA2 | c.371-45G= (n.371-45G=) c.422-45G= (n.422-45G=) c.401-45G= (n.401-45G=) | |
10 | g.79557630C>G | CA1922244493 | SFTPA2 | c.371-45G>C (n.371-45G>C) c.422-45G>C (n.422-45G>C) c.401-45G>C (n.401-45G>C) | dbSNP |
10 | g.79557630C>T | CA930321284 | SFTPA2 | c.371-45G>A (n.371-45G>A) c.422-45G>A (n.422-45G>A) c.401-45G>A (n.401-45G>A) | gnomAD v3 gnomAD v4 |