Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.79557530A=CA1922244444SFTPA2c.426T= (p.Asn142=)
c.477T= (p.Asn159=)
c.456T= (p.Asn152=)
10g.79557530A>CCA377353271SFTPA2c.426T>G (p.Asn142Lys)
c.477T>G (p.Asn159Lys)
c.456T>G (p.Asn152Lys)
10g.79557530A>GCA210248395SFTPA2c.426T>C (p.Asn142=)
c.477T>C (p.Asn159=)
c.456T>C (p.Asn152=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557530A>TCA377353272SFTPA2c.426T>A (p.Asn142Lys)
c.477T>A (p.Asn159Lys)
c.456T>A (p.Asn152Lys)
10g.79557531T>ACA377353273SFTPA2c.425A>T (p.Asn142Ile)
c.476A>T (p.Asn159Ile)
c.455A>T (p.Asn152Ile)
dbSNP gnomAD v4
10g.79557531T>CCA377353274SFTPA2c.425A>G (p.Asn142Ser)
c.476A>G (p.Asn159Ser)
c.455A>G (p.Asn152Ser)
gnomAD v4
10g.79557531T>GCA377353275SFTPA2c.425A>C (p.Asn142Thr)
c.476A>C (p.Asn159Thr)
c.455A>C (p.Asn152Thr)
10g.79557531T=CA1922244445SFTPA2c.425A= (p.Asn142=)
c.476A= (p.Asn159=)
c.455A= (p.Asn152=)
10g.79557532T>ACA377353278SFTPA2c.424A>T (p.Asn142Tyr)
c.475A>T (p.Asn159Tyr)
c.454A>T (p.Asn152Tyr)
gnomAD v4
10g.79557532T>CCA377353277SFTPA2c.424A>G (p.Asn142Asp)
c.475A>G (p.Asn159Asp)
c.454A>G (p.Asn152Asp)
gnomAD v4
10g.79557532T>GCA377353276SFTPA2c.424A>C (p.Asn142His)
c.475A>C (p.Asn159His)
c.454A>C (p.Asn152His)
10g.79557533G>ACA470414645SFTPA2c.423C>T (p.Ser141=)
c.474C>T (p.Ser158=)
c.453C>T (p.Ser151=)
10g.79557533G>CCA377353279SFTPA2c.423C>G (p.Ser141Arg)
c.474C>G (p.Ser158Arg)
c.453C>G (p.Ser151Arg)
10g.79557533G>TCA377353280SFTPA2c.423C>A (p.Ser141Arg)
c.474C>A (p.Ser158Arg)
c.453C>A (p.Ser151Arg)
10g.79557534C>ACA377353281SFTPA2c.422G>T (p.Ser141Ile)
c.473G>T (p.Ser158Ile)
c.452G>T (p.Ser151Ile)
10g.79557534C>GCA377353282SFTPA2c.422G>C (p.Ser141Thr)
c.473G>C (p.Ser158Thr)
c.452G>C (p.Ser151Thr)
10g.79557534C>TCA377353283SFTPA2c.422G>A (p.Ser141Asn)
c.473G>A (p.Ser158Asn)
c.452G>A (p.Ser151Asn)
gnomAD v4
10g.79557535T>ACA377353284SFTPA2c.421A>T (p.Ser141Cys)
c.472A>T (p.Ser158Cys)
c.451A>T (p.Ser151Cys)
10g.79557535T>CCA377353285SFTPA2c.421A>G (p.Ser141Gly)
c.472A>G (p.Ser158Gly)
c.451A>G (p.Ser151Gly)
10g.79557535T>GCA377353286SFTPA2c.421A>C (p.Ser141Arg)
c.472A>C (p.Ser158Arg)
c.451A>C (p.Ser151Arg)
dbSNP gnomAD v4
10g.79557536G>ACA5574039SFTPA2c.420C>T (p.Ser140=)
c.471C>T (p.Ser157=)
c.450C>T (p.Ser150=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557536G>CCA470414652SFTPA2c.420C>G (p.Ser140=)
c.471C>G (p.Ser157=)
c.450C>G (p.Ser150=)
dbSNP
10g.79557536G=CA1630848393SFTPA2c.420C= (p.Ser140=)
c.471C= (p.Ser157=)
c.450C= (p.Ser150=)
10g.79557536G>TCA470414653SFTPA2c.420C>A (p.Ser140=)
c.471C>A (p.Ser157=)
c.450C>A (p.Ser150=)
10g.79557537G>ACA377353289SFTPA2c.419C>T (p.Ser140Phe)
c.470C>T (p.Ser157Phe)
c.449C>T (p.Ser150Phe)
gnomAD v4
10g.79557537G>CCA377353287SFTPA2c.419C>G (p.Ser140Cys)
c.470C>G (p.Ser157Cys)
c.449C>G (p.Ser150Cys)
10g.79557537G>TCA377353288SFTPA2c.419C>A (p.Ser140Tyr)
c.470C>A (p.Ser157Tyr)
c.449C>A (p.Ser150Tyr)
10g.79557538delCA2609869155SFTPA2c.418del (p.Ser140ProfsTer?)
c.469del (p.Ser157ProfsTer?)
c.448del (p.Ser150ProfsTer?)
gnomAD v4
10g.79557538A>CCA377353290SFTPA2c.418T>G (p.Ser140Ala)
c.469T>G (p.Ser157Ala)
c.448T>G (p.Ser150Ala)
10g.79557538A>GCA377353291SFTPA2c.418T>C (p.Ser140Pro)
c.469T>C (p.Ser157Pro)
c.448T>C (p.Ser150Pro)
10g.79557538A>TCA377353292SFTPA2c.418T>A (p.Ser140Thr)
c.469T>A (p.Ser157Thr)
c.448T>A (p.Ser150Thr)
10g.79557539G>ACA470414663SFTPA2c.417C>T (p.Phe139=)
c.468C>T (p.Phe156=)
c.447C>T (p.Phe149=)
gnomAD v4
10g.79557539G>CCA377353293SFTPA2c.417C>G (p.Phe139Leu)
c.468C>G (p.Phe156Leu)
c.447C>G (p.Phe149Leu)
10g.79557539G>TCA377353294SFTPA2c.417C>A (p.Phe139Leu)
c.468C>A (p.Phe156Leu)
c.447C>A (p.Phe149Leu)
10g.79557540A=CA1922244446SFTPA2c.416T= (p.Phe139=)
c.467T= (p.Phe156=)
c.446T= (p.Phe149=)
10g.79557540A>CCA5574040SFTPA2c.416T>G (p.Phe139Cys)
c.467T>G (p.Phe156Cys)
c.446T>G (p.Phe149Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557540A>GCA377353296SFTPA2c.416T>C (p.Phe139Ser)
c.467T>C (p.Phe156Ser)
c.446T>C (p.Phe149Ser)
10g.79557540A>TCA377353295SFTPA2c.416T>A (p.Phe139Tyr)
c.467T>A (p.Phe156Tyr)
c.446T>A (p.Phe149Tyr)
10g.79557541A>CCA377353297SFTPA2c.415T>G (p.Phe139Val)
c.466T>G (p.Phe156Val)
c.445T>G (p.Phe149Val)
10g.79557541A>GCA377353298SFTPA2c.415T>C (p.Phe139Leu)
c.466T>C (p.Phe156Leu)
c.445T>C (p.Phe149Leu)
10g.79557541A>TCA377353299SFTPA2c.415T>A (p.Phe139Ile)
c.466T>A (p.Phe156Ile)
c.445T>A (p.Phe149Ile)
10g.79557542G>ACA470414676SFTPA2c.414C>T (p.Val138=)
c.465C>T (p.Val155=)
c.444C>T (p.Val148=)
gnomAD v4
10g.79557542G>CCA470414678SFTPA2c.414C>G (p.Val138=)
c.465C>G (p.Val155=)
c.444C>G (p.Val148=)
10g.79557542G>TCA470414674SFTPA2c.414C>A (p.Val138=)
c.465C>A (p.Val155=)
c.444C>A (p.Val148=)
10g.79557543A>CCA377353300SFTPA2c.413T>G (p.Val138Gly)
c.464T>G (p.Val155Gly)
c.443T>G (p.Val148Gly)
10g.79557543A>GCA377353301SFTPA2c.413T>C (p.Val138Ala)
c.464T>C (p.Val155Ala)
c.443T>C (p.Val148Ala)
dbSNP gnomAD v4
10g.79557543A>TCA377353302SFTPA2c.413T>A (p.Val138Asp)
c.464T>A (p.Val155Asp)
c.443T>A (p.Val148Asp)
gnomAD v4
10g.79557544C>ACA377353303SFTPA2c.412G>T (p.Val138Phe)
c.463G>T (p.Val155Phe)
c.442G>T (p.Val148Phe)
10g.79557544C>GCA377353304SFTPA2c.412G>C (p.Val138Leu)
c.463G>C (p.Val155Leu)
c.442G>C (p.Val148Leu)
10g.79557544C>TCA377353305SFTPA2c.412G>A (p.Val138Ile)
c.463G>A (p.Val155Ile)
c.442G>A (p.Val148Ile)
gnomAD v4
10g.79557545C>ACA377353306SFTPA2c.411G>T (p.Lys137Asn)
c.462G>T (p.Lys154Asn)
c.441G>T (p.Lys147Asn)
gnomAD v4
10g.79557545C>GCA377353307SFTPA2c.411G>C (p.Lys137Asn)
c.462G>C (p.Lys154Asn)
c.441G>C (p.Lys147Asn)
10g.79557545C>TCA470414688SFTPA2c.411G>A (p.Lys137=)
c.462G>A (p.Lys154=)
c.441G>A (p.Lys147=)
gnomAD v4
10g.79557547_79557549delCA2609869157SFTPA2c.409_411del (p.Lys137del)
c.460_462del (p.Lys154del)
c.439_441del (p.Lys147del)
gnomAD v4
10g.79557546T>ACA377353308SFTPA2c.410A>T (p.Lys137Met)
c.461A>T (p.Lys154Met)
c.440A>T (p.Lys147Met)
gnomAD v4
10g.79557546T>CCA377353310SFTPA2c.410A>G (p.Lys137Arg)
c.461A>G (p.Lys154Arg)
c.440A>G (p.Lys147Arg)
10g.79557546T>GCA377353309SFTPA2c.410A>C (p.Lys137Thr)
c.461A>C (p.Lys154Thr)
c.440A>C (p.Lys147Thr)
10g.79557547T>ACA377353311SFTPA2c.409A>T (p.Lys137Ter)
c.460A>T (p.Lys154Ter)
c.439A>T (p.Lys147Ter)
10g.79557547T>CCA377353312SFTPA2c.409A>G (p.Lys137Glu)
c.460A>G (p.Lys154Glu)
c.439A>G (p.Lys147Glu)
10g.79557547T>GCA377353313SFTPA2c.409A>C (p.Lys137Gln)
c.460A>C (p.Lys154Gln)
c.439A>C (p.Lys147Gln)
10g.79557548C>ACA377353314SFTPA2c.408G>T (p.Glu136Asp)
c.459G>T (p.Glu153Asp)
c.438G>T (p.Glu146Asp)
10g.79557548C>GCA377353315SFTPA2c.408G>C (p.Glu136Asp)
c.459G>C (p.Glu153Asp)
c.438G>C (p.Glu146Asp)
10g.79557548C>TCA470414699SFTPA2c.408G>A (p.Glu136=)
c.459G>A (p.Glu153=)
c.438G>A (p.Glu146=)
10g.79557549T>ACA377353316SFTPA2c.407A>T (p.Glu136Val)
c.458A>T (p.Glu153Val)
c.437A>T (p.Glu146Val)
10g.79557549T>CCA377353317SFTPA2c.407A>G (p.Glu136Gly)
c.458A>G (p.Glu153Gly)
c.437A>G (p.Glu146Gly)
gnomAD v4
10g.79557549T>GCA377353318SFTPA2c.407A>C (p.Glu136Ala)
c.458A>C (p.Glu153Ala)
c.437A>C (p.Glu146Ala)
10g.79557550C>ACA377353319SFTPA2c.406G>T (p.Glu136Ter)
c.457G>T (p.Glu153Ter)
c.436G>T (p.Glu146Ter)
10g.79557550C=CA1922244447SFTPA2c.406G= (p.Glu136=)
c.457G= (p.Glu153=)
c.436G= (p.Glu146=)
10g.79557550C>GCA377353320SFTPA2c.406G>C (p.Glu136Gln)
c.457G>C (p.Glu153Gln)
c.436G>C (p.Glu146Gln)
10g.79557550C>TCA5574041SFTPA2c.406G>A (p.Glu136Lys)
c.457G>A (p.Glu153Lys)
c.436G>A (p.Glu146Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557551T>ACA470414709SFTPA2c.405A>T (p.Gly135=)
c.456A>T (p.Gly152=)
c.435A>T (p.Gly145=)
10g.79557551T>CCA470414711SFTPA2c.405A>G (p.Gly135=)
c.456A>G (p.Gly152=)
c.435A>G (p.Gly145=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557551T>GCA470414712SFTPA2c.405A>C (p.Gly135=)
c.456A>C (p.Gly152=)
c.435A>C (p.Gly145=)
10g.79557551T=CA1922244448SFTPA2c.405A= (p.Gly135=)
c.456A= (p.Gly152=)
c.435A= (p.Gly145=)
10g.79557551_79557552insAGCA2609869158SFTPA2c.404_405insCT (p.Glu136Ter)
c.455_456insCT (p.Glu153Ter)
c.434_435insCT (p.Glu146Ter)
gnomAD v4
10g.79557552C>ACA377353322SFTPA2c.404G>T (p.Gly135Val)
c.455G>T (p.Gly152Val)
c.434G>T (p.Gly145Val)
10g.79557552C=CA1922244449SFTPA2c.404G= (p.Gly135=)
c.455G= (p.Gly152=)
c.434G= (p.Gly145=)
10g.79557552C>GCA210248420SFTPA2c.404G>C (p.Gly135Ala)
c.455G>C (p.Gly152Ala)
c.434G>C (p.Gly145Ala)
dbSNP gnomAD v3 gnomAD v4
10g.79557552C>TCA377353321SFTPA2c.404G>A (p.Gly135Glu)
c.455G>A (p.Gly152Glu)
c.434G>A (p.Gly145Glu)
gnomAD v4
10g.79557553C>ACA377353323SFTPA2c.403G>T (p.Gly135Ter)
c.454G>T (p.Gly152Ter)
c.433G>T (p.Gly145Ter)
10g.79557553C=CA1922244450SFTPA2c.403G= (p.Gly135=)
c.454G= (p.Gly152=)
c.433G= (p.Gly145=)
10g.79557553C>GCA377353324SFTPA2c.403G>C (p.Gly135Arg)
c.454G>C (p.Gly152Arg)
c.433G>C (p.Gly145Arg)
gnomAD v4
10g.79557553C>TCA210248421SFTPA2c.403G>A (p.Gly135Arg)
c.454G>A (p.Gly152Arg)
c.433G>A (p.Gly145Arg)
dbSNP gnomAD v4
10g.79557555_79557557dupCA594711239SFTPA2c.401_403dup (p.Val134_Gly135insVal)
c.452_454dup (p.Val151_Gly152insVal)
c.431_433dup (p.Val144_Gly145insVal)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557554T>ACA470414723SFTPA2c.402A>T (p.Val134=)
c.453A>T (p.Val151=)
c.432A>T (p.Val144=)
10g.79557554T>CCA470414725SFTPA2c.402A>G (p.Val134=)
c.453A>G (p.Val151=)
c.432A>G (p.Val144=)
10g.79557554T>GCA470414727SFTPA2c.402A>C (p.Val134=)
c.453A>C (p.Val151=)
c.432A>C (p.Val144=)
10g.79557555A=CA1922244451SFTPA2c.401T= (p.Val134=)
c.452T= (p.Val151=)
c.431T= (p.Val144=)
10g.79557555A>CCA377353325SFTPA2c.401T>G (p.Val134Gly)
c.452T>G (p.Val151Gly)
c.431T>G (p.Val144Gly)
10g.79557555A>GCA5574042SFTPA2c.401T>C (p.Val134Ala)
c.452T>C (p.Val151Ala)
c.431T>C (p.Val144Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557555A>TCA377353326SFTPA2c.401T>A (p.Val134Glu)
c.452T>A (p.Val151Glu)
c.431T>A (p.Val144Glu)
10g.79557556C>ACA377353327SFTPA2c.400G>T (p.Val134Leu)
c.451G>T (p.Val151Leu)
c.430G>T (p.Val144Leu)
10g.79557556C=CA1922244452SFTPA2c.400G= (p.Val134=)
c.451G= (p.Val151=)
c.430G= (p.Val144=)
10g.79557556C>GCA377353328SFTPA2c.400G>C (p.Val134Leu)
c.451G>C (p.Val151Leu)
c.430G>C (p.Val144Leu)
10g.79557556C>TCA5574043SFTPA2c.400G>A (p.Val134Ile)
c.451G>A (p.Val151Ile)
c.430G>A (p.Val144Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557557T>ACA470414736SFTPA2c.399A>T (p.Thr133=)
c.450A>T (p.Thr150=)
c.429A>T (p.Thr143=)
10g.79557557T>CCA5574044SFTPA2c.399A>G (p.Thr133=)
c.450A>G (p.Thr150=)
c.429A>G (p.Thr143=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557557T>GCA470414739SFTPA2c.399A>C (p.Thr133=)
c.450A>C (p.Thr150=)
c.429A>C (p.Thr143=)
10g.79557557T=CA1922244453SFTPA2c.399A= (p.Thr133=)
c.450A= (p.Thr150=)
c.429A= (p.Thr143=)
10g.79557558G>ACA377353329SFTPA2c.398C>T (p.Thr133Ile)
c.449C>T (p.Thr150Ile)
c.428C>T (p.Thr143Ile)
dbSNP gnomAD v3 gnomAD v4
10g.79557558G>CCA377353330SFTPA2c.398C>G (p.Thr133Arg)
c.449C>G (p.Thr150Arg)
c.428C>G (p.Thr143Arg)
dbSNP gnomAD v2 gnomAD v4
10g.79557558G=CA1922244454SFTPA2c.398C= (p.Thr133=)
c.449C= (p.Thr150=)
c.428C= (p.Thr143=)
10g.79557558G>TCA377353331SFTPA2c.398C>A (p.Thr133Lys)
c.449C>A (p.Thr150Lys)
c.428C>A (p.Thr143Lys)
10g.79557559delCA2609869159SFTPA2c.397del (p.Thr133GlnfsTer2)
c.448del (p.Thr150GlnfsTer2)
c.427del (p.Thr143GlnfsTer2)
gnomAD v4
10g.79557559T>ACA377353334SFTPA2c.397A>T (p.Thr133Ser)
c.448A>T (p.Thr150Ser)
c.427A>T (p.Thr143Ser)
10g.79557559T>CCA377353333SFTPA2c.397A>G (p.Thr133Ala)
c.448A>G (p.Thr150Ala)
c.427A>G (p.Thr143Ala)
dbSNP
10g.79557559T>GCA377353332SFTPA2c.397A>C (p.Thr133Pro)
c.448A>C (p.Thr150Pro)
c.427A>C (p.Thr143Pro)
10g.79557559T=CA1922244455SFTPA2c.397A= (p.Thr133=)
c.448A= (p.Thr150=)
c.427A= (p.Thr143=)
10g.79557560C>ACA377353336SFTPA2c.396G>T (p.Met132Ile)
c.447G>T (p.Met149Ile)
c.426G>T (p.Met142Ile)
gnomAD v4
10g.79557560C>GCA377353335SFTPA2c.396G>C (p.Met132Ile)
c.447G>C (p.Met149Ile)
c.426G>C (p.Met142Ile)
10g.79557560C>TCA377353337SFTPA2c.396G>A (p.Met132Ile)
c.447G>A (p.Met149Ile)
c.426G>A (p.Met142Ile)
10g.79557561A=CA1922244456SFTPA2c.395T= (p.Met132=)
c.446T= (p.Met149=)
c.425T= (p.Met142=)
10g.79557561A>CCA377353338SFTPA2c.395T>G (p.Met132Arg)
c.446T>G (p.Met149Arg)
c.425T>G (p.Met142Arg)
10g.79557561A>GCA210248434SFTPA2c.395T>C (p.Met132Thr)
c.446T>C (p.Met149Thr)
c.425T>C (p.Met142Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557561A>TCA377353339SFTPA2c.395T>A (p.Met132Lys)
c.446T>A (p.Met149Lys)
c.425T>A (p.Met142Lys)
10g.79557563_79557565delCA2609869160SFTPA2c.393_395del (p.Ile131del)
c.444_446del (p.Ile148del)
c.423_425del (p.Ile141del)
gnomAD v4
10g.79557562T>ACA377353340SFTPA2c.394A>T (p.Met132Leu)
c.445A>T (p.Met149Leu)
c.424A>T (p.Met142Leu)
10g.79557562T>CCA377353341SFTPA2c.394A>G (p.Met132Val)
c.445A>G (p.Met149Val)
c.424A>G (p.Met142Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557562T>GCA377353342SFTPA2c.394A>C (p.Met132Leu)
c.445A>C (p.Met149Leu)
c.424A>C (p.Met142Leu)
10g.79557562T=CA1922244457SFTPA2c.394A= (p.Met132=)
c.445A= (p.Met149=)
c.424A= (p.Met142=)
10g.79557562_79557563delCA2609869161SFTPA2c.393_394del (p.Met132AspfsTer17)
c.444_445del (p.Met149AspfsTer17)
c.423_424del (p.Met142AspfsTer17)
gnomAD v4
10g.79557563T>ACA470414758SFTPA2c.393A>T (p.Ile131=)
c.444A>T (p.Ile148=)
c.423A>T (p.Ile141=)
10g.79557563T>CCA377353343SFTPA2c.393A>G (p.Ile131Met)
c.444A>G (p.Ile148Met)
c.423A>G (p.Ile141Met)
10g.79557563T>GCA470414760SFTPA2c.393A>C (p.Ile131=)
c.444A>C (p.Ile148=)
c.423A>C (p.Ile141=)
gnomAD v4
10g.79557564A=CA1922244458SFTPA2c.392T= (p.Ile131=)
c.443T= (p.Ile148=)
c.422T= (p.Ile141=)
10g.79557564A>CCA377353344SFTPA2c.392T>G (p.Ile131Arg)
c.443T>G (p.Ile148Arg)
c.422T>G (p.Ile141Arg)
10g.79557564A>GCA377353345SFTPA2c.392T>C (p.Ile131Thr)
c.443T>C (p.Ile148Thr)
c.422T>C (p.Ile141Thr)
10g.79557564A>TCA5574045SFTPA2c.392T>A (p.Ile131Lys)
c.443T>A (p.Ile148Lys)
c.422T>A (p.Ile141Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557565T>ACA377353346SFTPA2c.391A>T (p.Ile131Leu)
c.442A>T (p.Ile148Leu)
c.421A>T (p.Ile141Leu)
10g.79557565T>CCA377353347SFTPA2c.391A>G (p.Ile131Val)
c.442A>G (p.Ile148Val)
c.421A>G (p.Ile141Val)
gnomAD v4
10g.79557565T>GCA377353348SFTPA2c.391A>C (p.Ile131Leu)
c.442A>C (p.Ile148Leu)
c.421A>C (p.Ile141Leu)
dbSNP
10g.79557565T=CA1922244459SFTPA2c.391A= (p.Ile131=)
c.442A= (p.Ile148=)
c.421A= (p.Ile141=)
10g.79557566G>ACA5574046SFTPA2c.390C>T (p.Ser130=)
c.441C>T (p.Ser147=)
c.420C>T (p.Ser140=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557566G>CCA470414771SFTPA2c.390C>G (p.Ser130=)
c.441C>G (p.Ser147=)
c.420C>G (p.Ser140=)
10g.79557566G=CA1922244460SFTPA2c.390C= (p.Ser130=)
c.441C= (p.Ser147=)
c.420C= (p.Ser140=)
10g.79557566G>TCA470414773SFTPA2c.390C>A (p.Ser130=)
c.441C>A (p.Ser147=)
c.420C>A (p.Ser140=)
10g.79557567G>ACA377353349SFTPA2c.389C>T (p.Ser130Phe)
c.440C>T (p.Ser147Phe)
c.419C>T (p.Ser140Phe)
gnomAD v4
10g.79557567G>CCA377353350SFTPA2c.389C>G (p.Ser130Cys)
c.440C>G (p.Ser147Cys)
c.419C>G (p.Ser140Cys)
dbSNP
10g.79557567G=CA1922244461SFTPA2c.389C= (p.Ser130=)
c.440C= (p.Ser147=)
c.419C= (p.Ser140=)
10g.79557567G>TCA377353351SFTPA2c.389C>A (p.Ser130Tyr)
c.440C>A (p.Ser147Tyr)
c.419C>A (p.Ser140Tyr)
10g.79557568A>CCA377353352SFTPA2c.388T>G (p.Ser130Ala)
c.439T>G (p.Ser147Ala)
c.418T>G (p.Ser140Ala)
10g.79557568A>GCA377353353SFTPA2c.388T>C (p.Ser130Pro)
c.439T>C (p.Ser147Pro)
c.418T>C (p.Ser140Pro)
10g.79557568A>TCA377353354SFTPA2c.388T>A (p.Ser130Thr)
c.439T>A (p.Ser147Thr)
c.418T>A (p.Ser140Thr)
10g.79557569G>ACA470414787SFTPA2c.387C>T (p.Gly129=)
c.438C>T (p.Gly146=)
c.417C>T (p.Gly139=)
dbSNP gnomAD v3 gnomAD v4
10g.79557569G>CCA470414788SFTPA2c.387C>G (p.Gly129=)
c.438C>G (p.Gly146=)
c.417C>G (p.Gly139=)
10g.79557569G=CA1922244462SFTPA2c.387C= (p.Gly129=)
c.438C= (p.Gly146=)
c.417C= (p.Gly139=)
10g.79557569G>TCA470414790SFTPA2c.387C>A (p.Gly129=)
c.438C>A (p.Gly146=)
c.417C>A (p.Gly139=)
10g.79557570C>ACA377353355SFTPA2c.386G>T (p.Gly129Val)
c.437G>T (p.Gly146Val)
c.416G>T (p.Gly139Val)
10g.79557570C=CA1922244463SFTPA2c.386G= (p.Gly129=)
c.437G= (p.Gly146=)
c.416G= (p.Gly139=)
10g.79557570C>GCA377353356SFTPA2c.386G>C (p.Gly129Ala)
c.437G>C (p.Gly146Ala)
c.416G>C (p.Gly139Ala)
10g.79557570C>TCA5574047SFTPA2c.386G>A (p.Gly129Asp)
c.437G>A (p.Gly146Asp)
c.416G>A (p.Gly139Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557571C>ACA377353357SFTPA2c.385G>T (p.Gly129Cys)
c.436G>T (p.Gly146Cys)
c.415G>T (p.Gly139Cys)
10g.79557571C>GCA377353358SFTPA2c.385G>C (p.Gly129Arg)
c.436G>C (p.Gly146Arg)
c.415G>C (p.Gly139Arg)
10g.79557571C>TCA377353359SFTPA2c.385G>A (p.Gly129Ser)
c.436G>A (p.Gly146Ser)
c.415G>A (p.Gly139Ser)
10g.79557572C>ACA377353360SFTPA2c.384G>T (p.Gln128His)
c.435G>T (p.Gln145His)
c.414G>T (p.Gln138His)
gnomAD v4
10g.79557572C>GCA377353361SFTPA2c.384G>C (p.Gln128His)
c.435G>C (p.Gln145His)
c.414G>C (p.Gln138His)
10g.79557572C>TCA470414800SFTPA2c.384G>A (p.Gln128=)
c.435G>A (p.Gln145=)
c.414G>A (p.Gln138=)
gnomAD v4
10g.79557573T>ACA377353362SFTPA2c.383A>T (p.Gln128Leu)
c.434A>T (p.Gln145Leu)
c.413A>T (p.Gln138Leu)
10g.79557573T>CCA377353364SFTPA2c.383A>G (p.Gln128Arg)
c.434A>G (p.Gln145Arg)
c.413A>G (p.Gln138Arg)
10g.79557573T>GCA377353363SFTPA2c.383A>C (p.Gln128Pro)
c.434A>C (p.Gln145Pro)
c.413A>C (p.Gln138Pro)
10g.79557574G>ACA5574048SFTPA2c.382C>T (p.Gln128Ter)
c.433C>T (p.Gln145Ter)
c.412C>T (p.Gln138Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557574G>CCA377353365SFTPA2c.382C>G (p.Gln128Glu)
c.433C>G (p.Gln145Glu)
c.412C>G (p.Gln138Glu)
10g.79557574G=CA1922244464SFTPA2c.382C= (p.Gln128=)
c.433C= (p.Gln145=)
c.412C= (p.Gln138=)
10g.79557574G>TCA377353366SFTPA2c.382C>A (p.Gln128Lys)
c.433C>A (p.Gln145Lys)
c.412C>A (p.Gln138Lys)
COSMIC
10g.79557575C>ACA470414808SFTPA2c.381G>T (p.Leu127=)
c.432G>T (p.Leu144=)
c.411G>T (p.Leu137=)
10g.79557575C=CA1922244465SFTPA2c.381G= (p.Leu127=)
c.432G= (p.Leu144=)
c.411G= (p.Leu137=)
10g.79557575C>GCA470414810SFTPA2c.381G>C (p.Leu127=)
c.432G>C (p.Leu144=)
c.411G>C (p.Leu137=)
10g.79557575C>TCA470414812SFTPA2c.381G>A (p.Leu127=)
c.432G>A (p.Leu144=)
c.411G>A (p.Leu137=)
dbSNP gnomAD v4
10g.79557576A>CCA377353367SFTPA2c.380T>G (p.Leu127Arg)
c.431T>G (p.Leu144Arg)
c.410T>G (p.Leu137Arg)
10g.79557576A>GCA377353368SFTPA2c.380T>C (p.Leu127Pro)
c.431T>C (p.Leu144Pro)
c.410T>C (p.Leu137Pro)
10g.79557576A>TCA377353369SFTPA2c.380T>A (p.Leu127Gln)
c.431T>A (p.Leu144Gln)
c.410T>A (p.Leu137Gln)
10g.79557577G>ACA470414819SFTPA2c.379C>T (p.Leu127=)
c.430C>T (p.Leu144=)
c.409C>T (p.Leu137=)
10g.79557577G>CCA377353370SFTPA2c.379C>G (p.Leu127Val)
c.430C>G (p.Leu144Val)
c.409C>G (p.Leu137Val)
10g.79557577G>TCA377353371SFTPA2c.379C>A (p.Leu127Met)
c.430C>A (p.Leu144Met)
c.409C>A (p.Leu137Met)
gnomAD v4
10g.79557578A>CCA377353372SFTPA2c.378T>G (p.Ser126Arg)
c.429T>G (p.Ser143Arg)
c.408T>G (p.Ser136Arg)
10g.79557578A>GCA470414824SFTPA2c.378T>C (p.Ser126=)
c.429T>C (p.Ser143=)
c.408T>C (p.Ser136=)
10g.79557578A>TCA377353373SFTPA2c.378T>A (p.Ser126Arg)
c.429T>A (p.Ser143Arg)
c.408T>A (p.Ser136Arg)
10g.79557579C>ACA377353374SFTPA2c.377G>T (p.Ser126Ile)
c.428G>T (p.Ser143Ile)
c.407G>T (p.Ser136Ile)
10g.79557579C>GCA377353375SFTPA2c.377G>C (p.Ser126Thr)
c.428G>C (p.Ser143Thr)
c.407G>C (p.Ser136Thr)
10g.79557579C>TCA377353376SFTPA2c.377G>A (p.Ser126Asn)
c.428G>A (p.Ser143Asn)
c.407G>A (p.Ser136Asn)
10g.79557580T>ACA377353379SFTPA2c.376A>T (p.Ser126Cys)
c.427A>T (p.Ser143Cys)
c.406A>T (p.Ser136Cys)
10g.79557580T>CCA377353377SFTPA2c.376A>G (p.Ser126Gly)
c.427A>G (p.Ser143Gly)
c.406A>G (p.Ser136Gly)
10g.79557580T>GCA377353378SFTPA2c.376A>C (p.Ser126Arg)
c.427A>C (p.Ser143Arg)
c.406A>C (p.Ser136Arg)
10g.79557581G>ACA470414833SFTPA2c.375C>T (p.Leu125=)
c.426C>T (p.Leu142=)
c.405C>T (p.Leu135=)
10g.79557581G>CCA470414834SFTPA2c.375C>G (p.Leu125=)
c.426C>G (p.Leu142=)
c.405C>G (p.Leu135=)
gnomAD v4
10g.79557581G>TCA470414836SFTPA2c.375C>A (p.Leu125=)
c.426C>A (p.Leu142=)
c.405C>A (p.Leu135=)
10g.79557582A>CCA377353380SFTPA2c.374T>G (p.Leu125Arg)
c.425T>G (p.Leu142Arg)
c.404T>G (p.Leu135Arg)
10g.79557582A>GCA377353381SFTPA2c.374T>C (p.Leu125Pro)
c.425T>C (p.Leu142Pro)
c.404T>C (p.Leu135Pro)
10g.79557582A>TCA377353382SFTPA2c.374T>A (p.Leu125His)
c.425T>A (p.Leu142His)
c.404T>A (p.Leu135His)
10g.79557583G>ACA377353383SFTPA2c.373C>T (p.Leu125Phe)
c.424C>T (p.Leu142Phe)
c.403C>T (p.Leu135Phe)
gnomAD v4
10g.79557583G>CCA377353384SFTPA2c.373C>G (p.Leu125Val)
c.424C>G (p.Leu142Val)
c.403C>G (p.Leu135Val)
10g.79557583G>TCA377353385SFTPA2c.373C>A (p.Leu125Ile)
c.424C>A (p.Leu142Ile)
c.403C>A (p.Leu135Ile)
10g.79557584G>ACA470414850SFTPA2c.372C>T (p.Ala124=)
c.423C>T (p.Ala141=)
c.402C>T (p.Ala134=)
gnomAD v4
10g.79557584G>CCA470414848SFTPA2c.372C>G (p.Ala124=)
c.423C>G (p.Ala141=)
c.402C>G (p.Ala134=)
gnomAD v4
10g.79557584G>TCA470414845SFTPA2c.372C>A (p.Ala124=)
c.423C>A (p.Ala141=)
c.402C>A (p.Ala134=)
10g.79557585G>ACA377353386SFTPA2c.371C>T (p.Ala124Val)
c.422C>T (p.Ala141Val)
c.401C>T (p.Ala134Val)
ClinVar gnomAD v4
10g.79557585G>CCA377353387SFTPA2c.371C>G (p.Ala124Gly)
c.422C>G (p.Ala141Gly)
c.401C>G (p.Ala134Gly)
10g.79557585G>TCA377353388SFTPA2c.371C>A (p.Ala124Asp)
c.422C>A (p.Ala141Asp)
c.401C>A (p.Ala134Asp)
10g.79557586C>ACA377353389SFTPA2c.371-1G>T (n.371-1G>T)
c.422-1G>T (n.422-1G>T)
c.401-1G>T (n.401-1G>T)
10g.79557586C=CA1922244466SFTPA2c.371-1G= (n.371-1G=)
c.422-1G= (n.422-1G=)
c.401-1G= (n.401-1G=)
10g.79557586C>GCA377353390SFTPA2c.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
10g.79557586C>TCA377353391SFTPA2c.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
10g.79557587T>ACA377353393SFTPA2c.371-2A>T (n.371-2A>T)
c.422-2A>T (n.422-2A>T)
c.401-2A>T (n.401-2A>T)
10g.79557587T>CCA377353394SFTPA2c.371-2A>G (n.371-2A>G)
c.422-2A>G (n.422-2A>G)
c.401-2A>G (n.401-2A>G)
10g.79557587T>GCA377353392SFTPA2c.371-2A>C (n.371-2A>C)
c.422-2A>C (n.422-2A>C)
c.401-2A>C (n.401-2A>C)
10g.79557590G>CCA1922244468SFTPA2c.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
10g.79557590G=CA1922244467SFTPA2c.371-5C= (n.371-5C=)
c.422-5C= (n.422-5C=)
c.401-5C= (n.401-5C=)
10g.79557591A=CA1922244469SFTPA2c.371-6T= (n.371-6T=)
c.422-6T= (n.422-6T=)
c.401-6T= (n.401-6T=)
10g.79557591A>GCA2609869172SFTPA2c.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
10g.79557591A>TCA594711240SFTPA2c.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
10g.79557592G>TCA2609869173SFTPA2c.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
10g.79557593C=CA1922244470SFTPA2c.371-8G= (n.371-8G=)
c.422-8G= (n.422-8G=)
c.401-8G= (n.401-8G=)
10g.79557593C>TCA594711241SFTPA2c.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
10g.79557594A>GCA2609869174SFTPA2c.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
10g.79557594_79557597delinsAGAGCA1922244471SFTPA2c.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)
10g.79557596_79557597delCA2609869175SFTPA2c.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
10g.79557595G>ACA210248453SFTPA2c.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
10g.79557595G=CA1922244473SFTPA2c.371-10C= (n.371-10C=)
c.422-10C= (n.422-10C=)
c.401-10C= (n.401-10C=)
10g.79557598_79557600delCA1922244472SFTPA2c.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
10g.79557597G>CCA2574596519SFTPA2c.371-12C>G (n.371-12C>G)
c.422-12C>G (n.422-12C>G)
c.401-12C>G (n.401-12C>G)
10g.79557598G>ACA2574596520SFTPA2c.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
10g.79557598G>CCA5574049SFTPA2c.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
10g.79557598G=CA1922244474SFTPA2c.371-13C= (n.371-13C=)
c.422-13C= (n.422-13C=)
c.401-13C= (n.401-13C=)
10g.79557598G>TCA2609869177SFTPA2c.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
10g.79557599A=CA1922244475SFTPA2c.371-14T= (n.371-14T=)
c.422-14T= (n.422-14T=)
c.401-14T= (n.401-14T=)
10g.79557599A>GCA594711242SFTPA2c.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
10g.79557599A>TCA2609869179SFTPA2c.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
10g.79557599_79557601delCA2609869178SFTPA2c.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
10g.79557600delCA2609869180SFTPA2c.371-15del (n.371-15del)
c.422-15del (n.422-15del)
c.401-15del (n.401-15del)
gnomAD v4
10g.79557600G>CCA2574596521SFTPA2c.371-15C>G (n.371-15C>G)
c.422-15C>G (n.422-15C>G)
c.401-15C>G (n.401-15C>G)
10g.79557601T>ACA2574596522SFTPA2c.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
10g.79557601T>CCA5574050SFTPA2c.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
10g.79557601T=CA1922244476SFTPA2c.371-16A= (n.371-16A=)
c.422-16A= (n.422-16A=)
c.401-16A= (n.401-16A=)
10g.79557602C>GCA2574596523SFTPA2c.371-17G>C (n.371-17G>C)
c.422-17G>C (n.422-17G>C)
c.401-17G>C (n.401-17G>C)
10g.79557602C>TCA2609869184SFTPA2c.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
10g.79557603C>ACA2574596524SFTPA2c.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
10g.79557603C=CA1922244477SFTPA2c.371-18G= (n.371-18G=)
c.422-18G= (n.422-18G=)
c.401-18G= (n.401-18G=)
10g.79557603C>TCA1922244478SFTPA2c.371-18G>A (n.371-18G>A)
c.422-18G>A (n.422-18G>A)
c.401-18G>A (n.401-18G>A)
dbSNP
10g.79557604delCA2609869186SFTPA2c.371-19del (n.371-19del)
c.422-19del (n.422-19del)
c.401-19del (n.401-19del)
gnomAD v4
10g.79557604A=CA1922244479SFTPA2c.371-19T= (n.371-19T=)
c.422-19T= (n.422-19T=)
c.401-19T= (n.401-19T=)
10g.79557604A>CCA594711243SFTPA2c.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
10g.79557604A>GCA5574051SFTPA2c.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
10g.79557604A>TCA5574052SFTPA2c.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
10g.79557605G>ACA2609869187SFTPA2c.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
10g.79557605G>TCA2609869189SFTPA2c.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
10g.79557606G>ACA210248466SFTPA2c.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
10g.79557606G=CA1922244480SFTPA2c.371-21C= (n.371-21C=)
c.422-21C= (n.422-21C=)
c.401-21C= (n.401-21C=)
10g.79557606G>TCA668802569SFTPA2c.371-21C>A (n.371-21C>A)
c.422-21C>A (n.422-21C>A)
c.401-21C>A (n.401-21C>A)
dbSNP
10g.79557607T>CCA1922244482SFTPA2c.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
10g.79557607T=CA1922244481SFTPA2c.371-22A= (n.371-22A=)
c.422-22A= (n.422-22A=)
c.401-22A= (n.401-22A=)
10g.79557608C>GCA2609869190SFTPA2c.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
10g.79557608C>TCA2609869191SFTPA2c.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
10g.79557609A=CA1922244483SFTPA2c.371-24T= (n.371-24T=)
c.422-24T= (n.422-24T=)
c.401-24T= (n.401-24T=)
10g.79557609A>GCA594711244SFTPA2c.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
10g.79557610G>CCA2609869195SFTPA2c.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
10g.79557611dupCA2788683860SFTPA2c.371-25dup (n.371-25dup)
c.422-25dup (n.422-25dup)
c.401-25dup (n.401-25dup)
10g.79557611G>ACA668802570SFTPA2c.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
10g.79557611G=CA1922244484SFTPA2c.371-26C= (n.371-26C=)
c.422-26C= (n.422-26C=)
c.401-26C= (n.401-26C=)
10g.79557611_79557612insGCGTTATCTACGGTCATACGGGAGGCGACA2534228061SFTPA2c.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)
10g.79557612C=CA1922244485SFTPA2c.371-27G= (n.371-27G=)
c.422-27G= (n.422-27G=)
c.401-27G= (n.401-27G=)
10g.79557612C>TCA930321246SFTPA2c.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
10g.79557612_79557613insGTTATCTACGGTCATACGGGAGGCGACCGGGTTCTTCTCGCTCTGCGGCAGGAAGACCGTGGTACGGCGGTAGCCGGTGGTCAGGACCGCCTCCAGCTTGTGCA2788683861SFTPA2c.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)
10g.79557613C>GCA2609869199SFTPA2c.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
10g.79557613C>TCA2609869200SFTPA2c.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
10g.79557613_79557614insGGGTTCTTCTCGCTCTGCGGCAGGAAGCA2545910192SFTPA2c.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)
10g.79557615_79557616insCGTGGTACGGCGGTAGCCGGTGGTCAGAACCGCCTCCAGCTTGTGCACGGGGCCGGCGAGGATATCGCCGAGCA2544302684SFTPA2c.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)
10g.79557616T>CCA2609869201SFTPA2c.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
10g.79557617G>TCA2609869202SFTPA2c.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
10g.79557618A=CA1922244486SFTPA2c.371-33T= (n.371-33T=)
c.422-33T= (n.422-33T=)
c.401-33T= (n.401-33T=)
10g.79557618A>GCA668802573SFTPA2c.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
10g.79557618A>TCA5574053SFTPA2c.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
10g.79557619C>TCA653669346SFTPA2c.371-34G>A (n.371-34G>A)
c.422-34G>A (n.422-34G>A)
c.401-34G>A (n.401-34G>A)
COSMIC
10g.79557620C>TCA2788683862SFTPA2c.371-35G>A (n.371-35G>A)
c.422-35G>A (n.422-35G>A)
c.401-35G>A (n.401-35G>A)
10g.79557621A=CA1922244488SFTPA2c.371-36T= (n.371-36T=)
c.422-36T= (n.422-36T=)
c.401-36T= (n.401-36T=)
10g.79557621A>GCA1922244487SFTPA2c.371-36T>C (n.371-36T>C)
c.422-36T>C (n.422-36T>C)
c.401-36T>C (n.401-36T>C)
dbSNP
10g.79557622C=CA1922244489SFTPA2c.371-37G= (n.371-37G=)
c.422-37G= (n.422-37G=)
c.401-37G= (n.401-37G=)
10g.79557622C>GCA1922244490SFTPA2c.371-37G>C (n.371-37G>C)
c.422-37G>C (n.422-37G>C)
c.401-37G>C (n.401-37G>C)
dbSNP
10g.79557624T>CCA210248487SFTPA2c.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
10g.79557624T=CA1922244491SFTPA2c.371-39A= (n.371-39A=)
c.422-39A= (n.422-39A=)
c.401-39A= (n.401-39A=)
10g.79557626G>ACA2609869205SFTPA2c.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
10g.79557628C>TCA2574596525SFTPA2c.371-43G>A (n.371-43G>A)
c.422-43G>A (n.422-43G>A)
c.401-43G>A (n.401-43G>A)
10g.79557630C=CA1922244492SFTPA2c.371-45G= (n.371-45G=)
c.422-45G= (n.422-45G=)
c.401-45G= (n.401-45G=)
10g.79557630C>GCA1922244493SFTPA2c.371-45G>C (n.371-45G>C)
c.422-45G>C (n.422-45G>C)
c.401-45G>C (n.401-45G>C)
dbSNP
10g.79557630C>TCA930321284SFTPA2c.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

Number of alleles fetched