Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.79557299C>ACA470414487SFTPA2c.657G>T (p.Arg219=)
c.708G>T (p.Arg236=)
c.687G>T (p.Arg229=)
10g.79557299C=CA1922240697SFTPA2c.657G= (p.Arg219=)
c.708G= (p.Arg236=)
c.687G= (p.Arg229=)
10g.79557299C>GCA470414488SFTPA2c.657G>C (p.Arg219=)
c.708G>C (p.Arg236=)
c.687G>C (p.Arg229=)
10g.79557299C>TCA5573985SFTPA2c.657G>A (p.Arg219=)
c.708G>A (p.Arg236=)
c.687G>A (p.Arg229=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557300C>ACA377352786SFTPA2c.656G>T (p.Arg219Leu)
c.707G>T (p.Arg236Leu)
c.686G>T (p.Arg229Leu)
 ClinVar dbSNP
10g.79557300C=CA1922240702SFTPA2c.656G= (p.Arg219=)
c.707G= (p.Arg236=)
c.686G= (p.Arg229=)
10g.79557300C>GCA377352787SFTPA2c.656G>C (p.Arg219Pro)
c.707G>C (p.Arg236Pro)
c.686G>C (p.Arg229Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557300C>TCA5573986SFTPA2c.656G>A (p.Arg219Gln)
c.707G>A (p.Arg236Gln)
c.686G>A (p.Arg229Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557301delCA2609869139SFTPA2c.655del (p.Arg219GlyfsTer25)
c.706del (p.Arg236GlyfsTer25)
c.685del (p.Arg229GlyfsTer25)
 gnomAD v4
10g.79557301G>ACA5573987SFTPA2c.655C>T (p.Arg219Trp)
c.706C>T (p.Arg236Trp)
c.685C>T (p.Arg229Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557301G>CCA377352788SFTPA2c.655C>G (p.Arg219Gly)
c.706C>G (p.Arg236Gly)
c.685C>G (p.Arg229Gly)
 gnomAD v4
10g.79557301G=CA1922240709SFTPA2c.655C= (p.Arg219=)
c.706C= (p.Arg236=)
c.685C= (p.Arg229=)
10g.79557301G>TCA470414489SFTPA2c.655C>A (p.Arg219=)
c.706C>A (p.Arg236=)
c.685C>A (p.Arg229=)
 gnomAD v4
10g.79557301_79557321delinsGACCTGCAGGCTCCCCTCGGTCA1922240710SFTPA2c.635_655delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr212=)
c.686_706delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr229=)
c.665_685delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr222=)
10g.79557302A=CA1922240716SFTPA2c.654T= (p.Gly218=)
c.705T= (p.Gly235=)
c.684T= (p.Gly228=)
10g.79557302A>CCA470414490SFTPA2c.654T>G (p.Gly218=)
c.705T>G (p.Gly235=)
c.684T>G (p.Gly228=)
 COSMIC
10g.79557302A>GCA470414492SFTPA2c.654T>C (p.Gly218=)
c.705T>C (p.Gly235=)
c.684T>C (p.Gly228=)
 dbSNP gnomAD v3 gnomAD v4
10g.79557302A>TCA470414491SFTPA2c.654T>A (p.Gly218=)
c.705T>A (p.Gly235=)
c.684T>A (p.Gly228=)
10g.79557305_79557324delCA5573988SFTPA2c.635_654del (p.Tyr212SerfsTer17)
c.686_705del (p.Tyr229SerfsTer17)
c.665_684del (p.Tyr222SerfsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557303C>ACA377352791SFTPA2c.653G>T (p.Gly218Val)
c.704G>T (p.Gly235Val)
c.683G>T (p.Gly228Val)
 dbSNP gnomAD v2 gnomAD v4
10g.79557303C=CA1922240719SFTPA2c.653G= (p.Gly218=)
c.704G= (p.Gly235=)
c.683G= (p.Gly228=)
10g.79557303C>GCA377352790SFTPA2c.653G>C (p.Gly218Ala)
c.704G>C (p.Gly235Ala)
c.683G>C (p.Gly228Ala)
10g.79557303C>TCA377352789SFTPA2c.653G>A (p.Gly218Asp)
c.704G>A (p.Gly235Asp)
c.683G>A (p.Gly228Asp)
10g.79557304C>ACA377352792SFTPA2c.652G>T (p.Gly218Cys)
c.703G>T (p.Gly235Cys)
c.682G>T (p.Gly228Cys)
10g.79557304C=CA1922240723SFTPA2c.652G= (p.Gly218=)
c.703G= (p.Gly235=)
c.682G= (p.Gly228=)
10g.79557304C>GCA377352793SFTPA2c.652G>C (p.Gly218Arg)
c.703G>C (p.Gly235Arg)
c.682G>C (p.Gly228Arg)
 dbSNP gnomAD v4
10g.79557304C>TCA377352794SFTPA2c.652G>A (p.Gly218Ser)
c.703G>A (p.Gly235Ser)
c.682G>A (p.Gly228Ser)
10g.79557305T>ACA470414493SFTPA2c.651A>T (p.Ala217=)
c.702A>T (p.Ala234=)
c.681A>T (p.Ala227=)
10g.79557305T>CCA470414494SFTPA2c.651A>G (p.Ala217=)
c.702A>G (p.Ala234=)
c.681A>G (p.Ala227=)
10g.79557305T>GCA470414495SFTPA2c.651A>C (p.Ala217=)
c.702A>C (p.Ala234=)
c.681A>C (p.Ala227=)
10g.79557306G>ACA377352795SFTPA2c.650C>T (p.Ala217Val)
c.701C>T (p.Ala234Val)
c.680C>T (p.Ala227Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557306G>CCA377352796SFTPA2c.650C>G (p.Ala217Gly)
c.701C>G (p.Ala234Gly)
c.680C>G (p.Ala227Gly)
10g.79557306G=CA1922240728SFTPA2c.650C= (p.Ala217=)
c.701C= (p.Ala234=)
c.680C= (p.Ala227=)
10g.79557306G>TCA377352797SFTPA2c.650C>A (p.Ala217Glu)
c.701C>A (p.Ala234Glu)
c.680C>A (p.Ala227Glu)
 gnomAD v4
10g.79557307C>ACA5573989SFTPA2c.649G>T (p.Ala217Ser)
c.700G>T (p.Ala234Ser)
c.679G>T (p.Ala227Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557307C=CA1922240731SFTPA2c.649G= (p.Ala217=)
c.700G= (p.Ala234=)
c.679G= (p.Ala227=)
10g.79557307C>GCA5573990SFTPA2c.649G>C (p.Ala217Pro)
c.700G>C (p.Ala234Pro)
c.679G>C (p.Ala227Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557307C>TCA377352798SFTPA2c.649G>A (p.Ala217Thr)
c.700G>A (p.Ala234Thr)
c.679G>A (p.Ala227Thr)
 gnomAD v4
10g.79557308A=CA1922240740SFTPA2c.648T= (p.Pro216=)
c.699T= (p.Pro233=)
c.678T= (p.Pro226=)
10g.79557308A>CCA210248127SFTPA2c.648T>G (p.Pro216=)
c.699T>G (p.Pro233=)
c.678T>G (p.Pro226=)
 dbSNP gnomAD v2 gnomAD v4
10g.79557308A>GCA5573991SFTPA2c.648T>C (p.Pro216=)
c.699T>C (p.Pro233=)
c.678T>C (p.Pro226=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557308A>TCA470414496SFTPA2c.648T>A (p.Pro216=)
c.699T>A (p.Pro233=)
c.678T>A (p.Pro226=)
10g.79557309G>ACA377352799SFTPA2c.647C>T (p.Pro216Leu)
c.698C>T (p.Pro233Leu)
c.677C>T (p.Pro226Leu)
10g.79557309G>CCA377352800SFTPA2c.647C>G (p.Pro216Arg)
c.698C>G (p.Pro233Arg)
c.677C>G (p.Pro226Arg)
10g.79557309G>TCA377352801SFTPA2c.647C>A (p.Pro216His)
c.698C>A (p.Pro233His)
c.677C>A (p.Pro226His)
10g.79557310G>ACA377352803SFTPA2c.646C>T (p.Pro216Ser)
c.697C>T (p.Pro233Ser)
c.676C>T (p.Pro226Ser)
 gnomAD v4
10g.79557310G>CCA377352804SFTPA2c.646C>G (p.Pro216Ala)
c.697C>G (p.Pro233Ala)
c.676C>G (p.Pro226Ala)
10g.79557310G>TCA377352802SFTPA2c.646C>A (p.Pro216Thr)
c.697C>A (p.Pro233Thr)
c.676C>A (p.Pro226Thr)
10g.79557310_79557311insACA2788683859SFTPA2c.645_646insT (p.Pro216SerfsTer20)
c.696_697insT (p.Pro233SerfsTer20)
c.675_676insT (p.Pro226SerfsTer20)
10g.79557311C>ACA377352805SFTPA2c.645G>T (p.Glu215Asp)
c.696G>T (p.Glu232Asp)
c.675G>T (p.Glu225Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.79557311C=CA1922240743SFTPA2c.645G= (p.Glu215=)
c.696G= (p.Glu232=)
c.675G= (p.Glu225=)
10g.79557311C>GCA377352806SFTPA2c.645G>C (p.Glu215Asp)
c.696G>C (p.Glu232Asp)
c.675G>C (p.Glu225Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.79557311C>TCA470414497SFTPA2c.645G>A (p.Glu215=)
c.696G>A (p.Glu232=)
c.675G>A (p.Glu225=)
 gnomAD v4
10g.79557312T>ACA377352807SFTPA2c.644A>T (p.Glu215Val)
c.695A>T (p.Glu232Val)
c.674A>T (p.Glu225Val)
10g.79557312T>CCA377352808SFTPA2c.644A>G (p.Glu215Gly)
c.695A>G (p.Glu232Gly)
c.674A>G (p.Glu225Gly)
10g.79557312T>GCA377352809SFTPA2c.644A>C (p.Glu215Ala)
c.695A>C (p.Glu232Ala)
c.674A>C (p.Glu225Ala)
10g.79557313C>ACA377352812SFTPA2c.643G>T (p.Glu215Ter)
c.694G>T (p.Glu232Ter)
c.673G>T (p.Glu225Ter)
10g.79557313C=CA1922240746SFTPA2c.643G= (p.Glu215=)
c.694G= (p.Glu232=)
c.673G= (p.Glu225=)
10g.79557313C>GCA377352810SFTPA2c.643G>C (p.Glu215Gln)
c.694G>C (p.Glu232Gln)
c.673G>C (p.Glu225Gln)
10g.79557313C>TCA377352811SFTPA2c.643G>A (p.Glu215Lys)
c.694G>A (p.Glu232Lys)
c.673G>A (p.Glu225Lys)
 dbSNP gnomAD v4
10g.79557314C>ACA470414498SFTPA2c.642G>T (p.Gly214=)
c.693G>T (p.Gly231=)
c.672G>T (p.Gly224=)
10g.79557314C>GCA470414499SFTPA2c.642G>C (p.Gly214=)
c.693G>C (p.Gly231=)
c.672G>C (p.Gly224=)
10g.79557314C>TCA470414500SFTPA2c.642G>A (p.Gly214=)
c.693G>A (p.Gly231=)
c.672G>A (p.Gly224=)
10g.79557315C>ACA377352813SFTPA2c.641G>T (p.Gly214Val)
c.692G>T (p.Gly231Val)
c.671G>T (p.Gly224Val)
10g.79557315C=CA1922240749SFTPA2c.641G= (p.Gly214=)
c.692G= (p.Gly231=)
c.671G= (p.Gly224=)
10g.79557315C>GCA377352814SFTPA2c.641G>C (p.Gly214Ala)
c.692G>C (p.Gly231Ala)
c.671G>C (p.Gly224Ala)
10g.79557315C>TCA5573992SFTPA2c.641G>A (p.Gly214Glu)
c.692G>A (p.Gly231Glu)
c.671G>A (p.Gly224Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557316C>ACA377352815SFTPA2c.640G>T (p.Gly214Trp)
c.691G>T (p.Gly231Trp)
c.670G>T (p.Gly224Trp)
10g.79557316C>GCA377352816SFTPA2c.640G>C (p.Gly214Arg)
c.691G>C (p.Gly231Arg)
c.670G>C (p.Gly224Arg)
10g.79557316C>TCA377352817SFTPA2c.640G>A (p.Gly214Arg)
c.691G>A (p.Gly231Arg)
c.670G>A (p.Gly224Arg)
10g.79557317T>ACA210248152SFTPA2c.639A>T (p.Arg213=)
c.690A>T (p.Arg230=)
c.669A>T (p.Arg223=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557317T>CCA470414501SFTPA2c.639A>G (p.Arg213=)
c.690A>G (p.Arg230=)
c.669A>G (p.Arg223=)
10g.79557317T>GCA470414502SFTPA2c.639A>C (p.Arg213=)
c.690A>C (p.Arg230=)
c.669A>C (p.Arg223=)
10g.79557317T=CA1922240752SFTPA2c.639A= (p.Arg213=)
c.690A= (p.Arg230=)
c.669A= (p.Arg223=)
10g.79557318C>ACA5573993SFTPA2c.638G>T (p.Arg213Leu)
c.689G>T (p.Arg230Leu)
c.668G>T (p.Arg223Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557318C=CA1922240757SFTPA2c.638G= (p.Arg213=)
c.689G= (p.Arg230=)
c.668G= (p.Arg223=)
10g.79557318C>GCA377352819SFTPA2c.638G>C (p.Arg213Pro)
c.689G>C (p.Arg230Pro)
c.668G>C (p.Arg223Pro)
 dbSNP gnomAD v3 gnomAD v4
10g.79557318C>TCA377352818SFTPA2c.638G>A (p.Arg213Gln)
c.689G>A (p.Arg230Gln)
c.668G>A (p.Arg223Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557319G>ACA5573995SFTPA2c.637C>T (p.Arg213Ter)
c.688C>T (p.Arg230Ter)
c.667C>T (p.Arg223Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557319G>CCA5573994SFTPA2c.637C>G (p.Arg213Gly)
c.688C>G (p.Arg230Gly)
c.667C>G (p.Arg223Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557319G=CA1922240760SFTPA2c.637C= (p.Arg213=)
c.688C= (p.Arg230=)
c.667C= (p.Arg223=)
10g.79557319G>TCA470414504SFTPA2c.637C>A (p.Arg213=)
c.688C>A (p.Arg230=)
c.667C>A (p.Arg223=)
 dbSNP gnomAD v2 gnomAD v4
10g.79557320G>ACA470414505SFTPA2c.636C>T (p.Tyr212=)
c.687C>T (p.Tyr229=)
c.666C>T (p.Tyr222=)
 dbSNP gnomAD v2 gnomAD v4
10g.79557320G>CCA377352821SFTPA2c.636C>G (p.Tyr212Ter)
c.687C>G (p.Tyr229Ter)
c.666C>G (p.Tyr222Ter)
 gnomAD v4
10g.79557320G=CA1922240764SFTPA2c.636C= (p.Tyr212=)
c.687C= (p.Tyr229=)
c.666C= (p.Tyr222=)
10g.79557320G>TCA377352820SFTPA2c.636C>A (p.Tyr212Ter)
c.687C>A (p.Tyr229Ter)
c.666C>A (p.Tyr222Ter)
10g.79557321T>ACA377352824SFTPA2c.635A>T (p.Tyr212Phe)
c.686A>T (p.Tyr229Phe)
c.665A>T (p.Tyr222Phe)
10g.79557321T>CCA377352822SFTPA2c.635A>G (p.Tyr212Cys)
c.686A>G (p.Tyr229Cys)
c.665A>G (p.Tyr222Cys)
10g.79557321T>GCA377352823SFTPA2c.635A>C (p.Tyr212Ser)
c.686A>C (p.Tyr229Ser)
c.665A>C (p.Tyr222Ser)
10g.79557322A>CCA377352825SFTPA2c.634T>G (p.Tyr212Asp)
c.685T>G (p.Tyr229Asp)
c.664T>G (p.Tyr222Asp)
10g.79557322A>GCA377352826SFTPA2c.634T>C (p.Tyr212His)
c.685T>C (p.Tyr229His)
c.664T>C (p.Tyr222His)
10g.79557322A>TCA377352827SFTPA2c.634T>A (p.Tyr212Asn)
c.685T>A (p.Tyr229Asn)
c.664T>A (p.Tyr222Asn)
10g.79557323C>ACA377352828SFTPA2c.633G>T (p.Trp211Cys)
c.684G>T (p.Trp228Cys)
c.663G>T (p.Trp221Cys)
10g.79557323C>GCA377352829SFTPA2c.633G>C (p.Trp211Cys)
c.684G>C (p.Trp228Cys)
c.663G>C (p.Trp221Cys)
10g.79557323C>TCA377352830SFTPA2c.633G>A (p.Trp211Ter)
c.684G>A (p.Trp228Ter)
c.663G>A (p.Trp221Ter)
10g.79557324C>ACA377352831SFTPA2c.632G>T (p.Trp211Leu)
c.683G>T (p.Trp228Leu)
c.662G>T (p.Trp221Leu)
10g.79557324C=CA1922240767SFTPA2c.632G= (p.Trp211=)
c.683G= (p.Trp228=)
c.662G= (p.Trp221=)
10g.79557324C>GCA377352832SFTPA2c.632G>C (p.Trp211Ser)
c.683G>C (p.Trp228Ser)
c.662G>C (p.Trp221Ser)
10g.79557324C>TCA377352833SFTPA2c.632G>A (p.Trp211Ter)
c.683G>A (p.Trp228Ter)
c.662G>A (p.Trp221Ter)
 dbSNP gnomAD v3 gnomAD v4
10g.79557325A>CCA377352836SFTPA2c.631T>G (p.Trp211Gly)
c.682T>G (p.Trp228Gly)
c.661T>G (p.Trp221Gly)
10g.79557325A>GCA377352835SFTPA2c.631T>C (p.Trp211Arg)
c.682T>C (p.Trp228Arg)
c.661T>C (p.Trp221Arg)
10g.79557325A>TCA377352834SFTPA2c.631T>A (p.Trp211Arg)
c.682T>A (p.Trp228Arg)
c.661T>A (p.Trp221Arg)
10g.79557326G>ACA210248179SFTPA2c.630C>T (p.Asn210=)
c.681C>T (p.Asn227=)
c.660C>T (p.Asn220=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557326G>CCA377352837SFTPA2c.630C>G (p.Asn210Lys)
c.681C>G (p.Asn227Lys)
c.660C>G (p.Asn220Lys)
 dbSNP
10g.79557326G=CA1922240771SFTPA2c.630C= (p.Asn210=)
c.681C= (p.Asn227=)
c.660C= (p.Asn220=)
10g.79557326G>TCA377352838SFTPA2c.630C>A (p.Asn210Lys)
c.681C>A (p.Asn227Lys)
c.660C>A (p.Asn220Lys)
10g.79557327T>ACA377352839SFTPA2c.629A>T (p.Asn210Ile)
c.680A>T (p.Asn227Ile)
c.659A>T (p.Asn220Ile)
10g.79557327T>CCA5573996SFTPA2c.629A>G (p.Asn210Ser)
c.680A>G (p.Asn227Ser)
c.659A>G (p.Asn220Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557327T>GCA377352840SFTPA2c.629A>C (p.Asn210Thr)
c.680A>C (p.Asn227Thr)
c.659A>C (p.Asn220Thr)
10g.79557327T=CA1922240778SFTPA2c.629A= (p.Asn210=)
c.680A= (p.Asn227=)
c.659A= (p.Asn220=)
10g.79557328T>ACA377352841SFTPA2c.628A>T (p.Asn210Tyr)
c.679A>T (p.Asn227Tyr)
c.658A>T (p.Asn220Tyr)
10g.79557328T>CCA377352842SFTPA2c.628A>G (p.Asn210Asp)
c.679A>G (p.Asn227Asp)
c.658A>G (p.Asn220Asp)
10g.79557328T>GCA377352843SFTPA2c.628A>C (p.Asn210His)
c.679A>C (p.Asn227His)
c.658A>C (p.Asn220His)
10g.79557329G>ACA470414506SFTPA2c.627C>T (p.Thr209=)
c.678C>T (p.Thr226=)
c.657C>T (p.Thr219=)
10g.79557329G>CCA470414507SFTPA2c.627C>G (p.Thr209=)
c.678C>G (p.Thr226=)
c.657C>G (p.Thr219=)
10g.79557329G>TCA470414508SFTPA2c.627C>A (p.Thr209=)
c.678C>A (p.Thr226=)
c.657C>A (p.Thr219=)
10g.79557330G>ACA377352844SFTPA2c.626C>T (p.Thr209Ile)
c.677C>T (p.Thr226Ile)
c.656C>T (p.Thr219Ile)
10g.79557330G>CCA377352845SFTPA2c.626C>G (p.Thr209Ser)
c.677C>G (p.Thr226Ser)
c.656C>G (p.Thr219Ser)
 gnomAD v4
10g.79557330G>TCA377352846SFTPA2c.626C>A (p.Thr209Asn)
c.677C>A (p.Thr226Asn)
c.656C>A (p.Thr219Asn)
10g.79557331T>ACA377352849SFTPA2c.625A>T (p.Thr209Ser)
c.676A>T (p.Thr226Ser)
c.655A>T (p.Thr219Ser)
10g.79557331T>CCA377352848SFTPA2c.625A>G (p.Thr209Ala)
c.676A>G (p.Thr226Ala)
c.655A>G (p.Thr219Ala)
10g.79557331T>GCA377352847SFTPA2c.625A>C (p.Thr209Pro)
c.676A>C (p.Thr226Pro)
c.655A>C (p.Thr219Pro)
10g.79557332G>ACA5573997SFTPA2c.624C>T (p.Tyr208=)
c.675C>T (p.Tyr225=)
c.654C>T (p.Tyr218=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79557332G>CCA377352850SFTPA2c.624C>G (p.Tyr208Ter)
c.675C>G (p.Tyr225Ter)
c.654C>G (p.Tyr218Ter)
10g.79557332G=CA1922240780SFTPA2c.624C= (p.Tyr208=)
c.675C= (p.Tyr225=)
c.654C= (p.Tyr218=)
10g.79557332G>TCA377352851SFTPA2c.624C>A (p.Tyr208Ter)
c.675C>A (p.Tyr225Ter)
c.654C>A (p.Tyr218Ter)
10g.79557333T>ACA377352852SFTPA2c.623A>T (p.Tyr208Phe)
c.674A>T (p.Tyr225Phe)
c.653A>T (p.Tyr218Phe)
10g.79557333T>CCA377352853SFTPA2c.623A>G (p.Tyr208Cys)
c.674A>G (p.Tyr225Cys)
c.653A>G (p.Tyr218Cys)
10g.79557333T>GCA377352854SFTPA2c.623A>C (p.Tyr208Ser)
c.674A>C (p.Tyr225Ser)
c.653A>C (p.Tyr218Ser)
10g.79557334A>CCA377352855SFTPA2c.622T>G (p.Tyr208Asp)
c.673T>G (p.Tyr225Asp)
c.652T>G (p.Tyr218Asp)
10g.79557334A>GCA377352856SFTPA2c.622T>C (p.Tyr208His)
c.673T>C (p.Tyr225His)
c.652T>C (p.Tyr218His)
10g.79557334A>TCA377352857SFTPA2c.622T>A (p.Tyr208Asn)
c.673T>A (p.Tyr225Asn)
c.652T>A (p.Tyr218Asn)
10g.79557335G>ACA470414509SFTPA2c.621C>T (p.Asn207=)
c.672C>T (p.Asn224=)
c.651C>T (p.Asn217=)
10g.79557335G>CCA377352858SFTPA2c.621C>G (p.Asn207Lys)
c.672C>G (p.Asn224Lys)
c.651C>G (p.Asn217Lys)
10g.79557335G>TCA377352859SFTPA2c.621C>A (p.Asn207Lys)
c.672C>A (p.Asn224Lys)
c.651C>A (p.Asn217Lys)
10g.79557336T>ACA377352862SFTPA2c.620A>T (p.Asn207Ile)
c.671A>T (p.Asn224Ile)
c.650A>T (p.Asn217Ile)
10g.79557336T>CCA377352861SFTPA2c.620A>G (p.Asn207Ser)
c.671A>G (p.Asn224Ser)
c.650A>G (p.Asn217Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557336T>GCA377352860SFTPA2c.620A>C (p.Asn207Thr)
c.671A>C (p.Asn224Thr)
c.650A>C (p.Asn217Thr)
10g.79557336T=CA1922240782SFTPA2c.620A= (p.Asn207=)
c.671A= (p.Asn224=)
c.650A= (p.Asn217=)
10g.79557337T>ACA377352863SFTPA2c.619A>T (p.Asn207Tyr)
c.670A>T (p.Asn224Tyr)
c.649A>T (p.Asn217Tyr)
 dbSNP gnomAD v2 gnomAD v4
10g.79557337T>CCA377352864SFTPA2c.619A>G (p.Asn207Asp)
c.670A>G (p.Asn224Asp)
c.649A>G (p.Asn217Asp)
10g.79557337T>GCA377352865SFTPA2c.619A>C (p.Asn207His)
c.670A>C (p.Asn224His)
c.649A>C (p.Asn217His)
 gnomAD v4
10g.79557337T=CA1922240785SFTPA2c.619A= (p.Asn207=)
c.670A= (p.Asn224=)
c.649A= (p.Asn217=)
10g.79557338T>ACA470414510SFTPA2c.618A>T (p.Val206=)
c.669A>T (p.Val223=)
c.648A>T (p.Val216=)
10g.79557338T>CCA5573998SFTPA2c.618A>G (p.Val206=)
c.669A>G (p.Val223=)
c.648A>G (p.Val216=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557338T>GCA470414511SFTPA2c.618A>C (p.Val206=)
c.669A>C (p.Val223=)
c.648A>C (p.Val216=)
10g.79557338T=CA1922240787SFTPA2c.618A= (p.Val206=)
c.669A= (p.Val223=)
c.648A= (p.Val216=)
10g.79557339A>CCA377352866SFTPA2c.617T>G (p.Val206Gly)
c.668T>G (p.Val223Gly)
c.647T>G (p.Val216Gly)
10g.79557339A>GCA377352867SFTPA2c.617T>C (p.Val206Ala)
c.668T>C (p.Val223Ala)
c.647T>C (p.Val216Ala)
10g.79557339A>TCA377352868SFTPA2c.617T>A (p.Val206Glu)
c.668T>A (p.Val223Glu)
c.647T>A (p.Val216Glu)
 gnomAD v3 gnomAD v4
10g.79557340C>ACA377352869SFTPA2c.616G>T (p.Val206Leu)
c.667G>T (p.Val223Leu)
c.646G>T (p.Val216Leu)
10g.79557340C>GCA377352870SFTPA2c.616G>C (p.Val206Leu)
c.667G>C (p.Val223Leu)
c.646G>C (p.Val216Leu)
10g.79557340C>TCA377352871SFTPA2c.616G>A (p.Val206Ile)
c.667G>A (p.Val223Ile)
c.646G>A (p.Val216Ile)
 gnomAD v4
10g.79557341A>CCA470414512SFTPA2c.615T>G (p.Pro205=)
c.666T>G (p.Pro222=)
c.645T>G (p.Pro215=)
10g.79557341A>GCA470414514SFTPA2c.615T>C (p.Pro205=)
c.666T>C (p.Pro222=)
c.645T>C (p.Pro215=)
10g.79557341A>TCA470414513SFTPA2c.615T>A (p.Pro205=)
c.666T>A (p.Pro222=)
c.645T>A (p.Pro215=)
10g.79557341_79557343delinsAGGCA1922240792SFTPA2c.613_615delinsCCT (p.Pro205=)
c.664_666delinsCCT (p.Pro222=)
c.643_645delinsCCT (p.Pro215=)
10g.79557342G>ACA377352872SFTPA2c.614C>T (p.Pro205Leu)
c.665C>T (p.Pro222Leu)
c.644C>T (p.Pro215Leu)
10g.79557342G>CCA377352873SFTPA2c.614C>G (p.Pro205Arg)
c.665C>G (p.Pro222Arg)
c.644C>G (p.Pro215Arg)
10g.79557342G>TCA377352874SFTPA2c.614C>A (p.Pro205His)
c.665C>A (p.Pro222His)
c.644C>A (p.Pro215His)
10g.79557344_79557345delCA1922240796SFTPA2c.613_614del (p.Pro205CysfsTer30)
c.664_665del (p.Pro222CysfsTer30)
c.643_644del (p.Pro215CysfsTer30)
 dbSNP
10g.79557343G>ACA377352876SFTPA2c.613C>T (p.Pro205Ser)
c.664C>T (p.Pro222Ser)
c.643C>T (p.Pro215Ser)
10g.79557343G>CCA5573999SFTPA2c.613C>G (p.Pro205Ala)
c.664C>G (p.Pro222Ala)
c.643C>G (p.Pro215Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557343G=CA1922240798SFTPA2c.613C= (p.Pro205=)
c.664C= (p.Pro222=)
c.643C= (p.Pro215=)
10g.79557343G>TCA377352875SFTPA2c.613C>A (p.Pro205Thr)
c.664C>A (p.Pro222Thr)
c.643C>A (p.Pro215Thr)
10g.79557344G>ACA470414515SFTPA2c.612C>T (p.Thr204=)
c.663C>T (p.Thr221=)
c.642C>T (p.Thr214=)
10g.79557344G>CCA470414516SFTPA2c.612C>G (p.Thr204=)
c.663C>G (p.Thr221=)
c.642C>G (p.Thr214=)
10g.79557344G>TCA470414517SFTPA2c.612C>A (p.Thr204=)
c.663C>A (p.Thr221=)
c.642C>A (p.Thr214=)
10g.79557345G>ACA377352879SFTPA2c.611C>T (p.Thr204Ile)
c.662C>T (p.Thr221Ile)
c.641C>T (p.Thr214Ile)
10g.79557345G>CCA377352877SFTPA2c.611C>G (p.Thr204Ser)
c.662C>G (p.Thr221Ser)
c.641C>G (p.Thr214Ser)
10g.79557345G>TCA377352878SFTPA2c.611C>A (p.Thr204Asn)
c.662C>A (p.Thr221Asn)
c.641C>A (p.Thr214Asn)
10g.79557346T>ACA377352880SFTPA2c.610A>T (p.Thr204Ser)
c.661A>T (p.Thr221Ser)
c.640A>T (p.Thr214Ser)
10g.79557346T>CCA377352881SFTPA2c.610A>G (p.Thr204Ala)
c.661A>G (p.Thr221Ala)
c.640A>G (p.Thr214Ala)
 gnomAD v4
10g.79557346T>GCA377352882SFTPA2c.610A>C (p.Thr204Pro)
c.661A>C (p.Thr221Pro)
c.640A>C (p.Thr214Pro)
 gnomAD v4
10g.79557347C>ACA470414518SFTPA2c.609G>T (p.Gly203=)
c.660G>T (p.Gly220=)
c.639G>T (p.Gly213=)
10g.79557347C>GCA470414519SFTPA2c.609G>C (p.Gly203=)
c.660G>C (p.Gly220=)
c.639G>C (p.Gly213=)
10g.79557347C>TCA470414520SFTPA2c.609G>A (p.Gly203=)
c.660G>A (p.Gly220=)
c.639G>A (p.Gly213=)
 gnomAD v4
10g.79557348C>ACA377352884SFTPA2c.608G>T (p.Gly203Val)
c.659G>T (p.Gly220Val)
c.638G>T (p.Gly213Val)
10g.79557348C=CA1922240806SFTPA2c.608G= (p.Gly203=)
c.659G= (p.Gly220=)
c.638G= (p.Gly213=)
10g.79557348C>GCA377352883SFTPA2c.608G>C (p.Gly203Ala)
c.659G>C (p.Gly220Ala)
c.638G>C (p.Gly213Ala)
10g.79557348C>TCA5574000SFTPA2c.608G>A (p.Gly203Glu)
c.659G>A (p.Gly220Glu)
c.638G>A (p.Gly213Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557349C>ACA377352885SFTPA2c.607G>T (p.Gly203Trp)
c.658G>T (p.Gly220Trp)
c.637G>T (p.Gly213Trp)
10g.79557349C>GCA377352886SFTPA2c.607G>C (p.Gly203Arg)
c.658G>C (p.Gly220Arg)
c.637G>C (p.Gly213Arg)
10g.79557349C>TCA377352887SFTPA2c.607G>A (p.Gly203Arg)
c.658G>A (p.Gly220Arg)
c.637G>A (p.Gly213Arg)
10g.79557350A=CA1922240811SFTPA2c.606T= (p.Asp202=)
c.657T= (p.Asp219=)
c.636T= (p.Asp212=)
10g.79557350A>CCA377352888SFTPA2c.606T>G (p.Asp202Glu)
c.657T>G (p.Asp219Glu)
c.636T>G (p.Asp212Glu)
 gnomAD v4
10g.79557350A>GCA5574001SFTPA2c.606T>C (p.Asp202=)
c.657T>C (p.Asp219=)
c.636T>C (p.Asp212=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557350A>TCA377352889SFTPA2c.606T>A (p.Asp202Glu)
c.657T>A (p.Asp219Glu)
c.636T>A (p.Asp212Glu)
 gnomAD v4
10g.79557351T>ACA377352890SFTPA2c.605A>T (p.Asp202Val)
c.656A>T (p.Asp219Val)
c.635A>T (p.Asp212Val)
10g.79557351T>CCA377352892SFTPA2c.605A>G (p.Asp202Gly)
c.656A>G (p.Asp219Gly)
c.635A>G (p.Asp212Gly)
 gnomAD v4
10g.79557351T>GCA377352891SFTPA2c.605A>C (p.Asp202Ala)
c.656A>C (p.Asp219Ala)
c.635A>C (p.Asp212Ala)
 gnomAD v4
10g.79557352C>ACA377352893SFTPA2c.604G>T (p.Asp202Tyr)
c.655G>T (p.Asp219Tyr)
c.634G>T (p.Asp212Tyr)
 gnomAD v4
10g.79557352C>GCA377352894SFTPA2c.604G>C (p.Asp202His)
c.655G>C (p.Asp219His)
c.634G>C (p.Asp212His)
10g.79557352C>TCA377352895SFTPA2c.604G>A (p.Asp202Asn)
c.655G>A (p.Asp219Asn)
c.634G>A (p.Asp212Asn)
 gnomAD v4
10g.79557353T>ACA470414521SFTPA2c.603A>T (p.Ser201=)
c.654A>T (p.Ser218=)
c.633A>T (p.Ser211=)
10g.79557353T>CCA470414522SFTPA2c.603A>G (p.Ser201=)
c.654A>G (p.Ser218=)
c.633A>G (p.Ser211=)
 gnomAD v4
10g.79557353T>GCA470414523SFTPA2c.603A>C (p.Ser201=)
c.654A>C (p.Ser218=)
c.633A>C (p.Ser211=)
10g.79557354G>ACA377352896SFTPA2c.602C>T (p.Ser201Leu)
c.653C>T (p.Ser218Leu)
c.632C>T (p.Ser211Leu)
10g.79557354G>CCA377352897SFTPA2c.602C>G (p.Ser201Ter)
c.653C>G (p.Ser218Ter)
c.632C>G (p.Ser211Ter)
10g.79557354G>TCA377352898SFTPA2c.602C>A (p.Ser201Ter)
c.653C>A (p.Ser218Ter)
c.632C>A (p.Ser211Ter)
10g.79557355A>CCA377352899SFTPA2c.601T>G (p.Ser201Ala)
c.652T>G (p.Ser218Ala)
c.631T>G (p.Ser211Ala)
10g.79557355A>GCA377352900SFTPA2c.601T>C (p.Ser201Pro)
c.652T>C (p.Ser218Pro)
c.631T>C (p.Ser211Pro)
10g.79557355A>TCA377352901SFTPA2c.601T>A (p.Ser201Thr)
c.652T>A (p.Ser218Thr)
c.631T>A (p.Ser211Thr)
10g.79557356G>ACA470414524SFTPA2c.600C>T (p.Tyr200=)
c.651C>T (p.Tyr217=)
c.630C>T (p.Tyr210=)
10g.79557356G>CCA377352902SFTPA2c.600C>G (p.Tyr200Ter)
c.651C>G (p.Tyr217Ter)
c.630C>G (p.Tyr210Ter)
 COSMIC
10g.79557356G>TCA377352903SFTPA2c.600C>A (p.Tyr200Ter)
c.651C>A (p.Tyr217Ter)
c.630C>A (p.Tyr210Ter)
10g.79557357T>ACA5574002SFTPA2c.599A>T (p.Tyr200Phe)
c.650A>T (p.Tyr217Phe)
c.629A>T (p.Tyr210Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557357T>CCA210248214SFTPA2c.599A>G (p.Tyr200Cys)
c.650A>G (p.Tyr217Cys)
c.629A>G (p.Tyr210Cys)
 dbSNP gnomAD v3 gnomAD v4
10g.79557357T>GCA377352904SFTPA2c.599A>C (p.Tyr200Ser)
c.650A>C (p.Tyr217Ser)
c.629A>C (p.Tyr210Ser)
10g.79557357T=CA1922240814SFTPA2c.599A= (p.Tyr200=)
c.650A= (p.Tyr217=)
c.629A= (p.Tyr210=)
10g.79557358A>CCA377352905SFTPA2c.598T>G (p.Tyr200Asp)
c.649T>G (p.Tyr217Asp)
c.628T>G (p.Tyr210Asp)
10g.79557358A>GCA377352906SFTPA2c.598T>C (p.Tyr200His)
c.649T>C (p.Tyr217His)
c.628T>C (p.Tyr210His)
10g.79557358A>TCA377352907SFTPA2c.598T>A (p.Tyr200Asn)
c.649T>A (p.Tyr217Asn)
c.628T>A (p.Tyr210Asn)
10g.79557359G>ACA470414525SFTPA2c.597C>T (p.Arg199=)
c.648C>T (p.Arg216=)
c.627C>T (p.Arg209=)
10g.79557359G>CCA470414526SFTPA2c.597C>G (p.Arg199=)
c.648C>G (p.Arg216=)
c.627C>G (p.Arg209=)
10g.79557359G>TCA470414527SFTPA2c.597C>A (p.Arg199=)
c.648C>A (p.Arg216=)
c.627C>A (p.Arg209=)
10g.79557360C>ACA377352908SFTPA2c.596G>T (p.Arg199Leu)
c.647G>T (p.Arg216Leu)
c.626G>T (p.Arg209Leu)
10g.79557360C=CA1922240821SFTPA2c.596G= (p.Arg199=)
c.647G= (p.Arg216=)
c.626G= (p.Arg209=)
10g.79557360C>GCA377352909SFTPA2c.596G>C (p.Arg199Pro)
c.647G>C (p.Arg216Pro)
c.626G>C (p.Arg209Pro)
10g.79557360C>TCA5574003SFTPA2c.596G>A (p.Arg199His)
c.647G>A (p.Arg216His)
c.626G>A (p.Arg209His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557361G>ACA5574004SFTPA2c.595C>T (p.Arg199Cys)
c.646C>T (p.Arg216Cys)
c.625C>T (p.Arg209Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557361G>CCA377352910SFTPA2c.595C>G (p.Arg199Gly)
c.646C>G (p.Arg216Gly)
c.625C>G (p.Arg209Gly)
10g.79557361G=CA1922240823SFTPA2c.595C= (p.Arg199=)
c.646C= (p.Arg216=)
c.625C= (p.Arg209=)
10g.79557361G>TCA377352911SFTPA2c.595C>A (p.Arg199Ser)
c.646C>A (p.Arg216Ser)
c.625C>A (p.Arg209Ser)
10g.79557362G>ACA470414528SFTPA2c.594C>T (p.Phe198=)
c.645C>T (p.Phe215=)
c.624C>T (p.Phe208=)
 dbSNP COSMIC
10g.79557362G>CCA377352912SFTPA2c.594C>G (p.Phe198Leu)
c.645C>G (p.Phe215Leu)
c.624C>G (p.Phe208Leu)
10g.79557362G>TCA377352913SFTPA2c.594C>A (p.Phe198Leu)
c.645C>A (p.Phe215Leu)
c.624C>A (p.Phe208Leu)
10g.79557363A=CA1922240827SFTPA2c.593T= (p.Phe198=)
c.644T= (p.Phe215=)
c.623T= (p.Phe208=)
10g.79557363A>CCA377352914SFTPA2c.593T>G (p.Phe198Cys)
c.644T>G (p.Phe215Cys)
c.623T>G (p.Phe208Cys)
10g.79557363A>GCA256738SFTPA2c.593T>C (p.Phe198Ser)
c.644T>C (p.Phe215Ser)
c.623T>C (p.Phe208Ser)
 ClinVar dbSNP
10g.79557363A>TCA377352915SFTPA2c.593T>A (p.Phe198Tyr)
c.644T>A (p.Phe215Tyr)
c.623T>A (p.Phe208Tyr)
10g.79557364A>CCA377352916SFTPA2c.592T>G (p.Phe198Val)
c.643T>G (p.Phe215Val)
c.622T>G (p.Phe208Val)
10g.79557364A>GCA377352918SFTPA2c.592T>C (p.Phe198Leu)
c.643T>C (p.Phe215Leu)
c.622T>C (p.Phe208Leu)
10g.79557364A>TCA377352917SFTPA2c.592T>A (p.Phe198Ile)
c.643T>A (p.Phe215Ile)
c.622T>A (p.Phe208Ile)
10g.79557365G>ACA470414529SFTPA2c.591C>T (p.Asp197=)
c.642C>T (p.Asp214=)
c.621C>T (p.Asp207=)
 gnomAD v4
10g.79557365G>CCA377352919SFTPA2c.591C>G (p.Asp197Glu)
c.642C>G (p.Asp214Glu)
c.621C>G (p.Asp207Glu)
10g.79557365G>TCA377352920SFTPA2c.591C>A (p.Asp197Glu)
c.642C>A (p.Asp214Glu)
c.621C>A (p.Asp207Glu)
10g.79557366T>ACA377352921SFTPA2c.590A>T (p.Asp197Val)
c.641A>T (p.Asp214Val)
c.620A>T (p.Asp207Val)
10g.79557366T>CCA5574005SFTPA2c.590A>G (p.Asp197Gly)
c.641A>G (p.Asp214Gly)
c.620A>G (p.Asp207Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557366T>GCA377352922SFTPA2c.590A>C (p.Asp197Ala)
c.641A>C (p.Asp214Ala)
c.620A>C (p.Asp207Ala)
10g.79557366T=CA1922240832SFTPA2c.590A= (p.Asp197=)
c.641A= (p.Asp214=)
c.620A= (p.Asp207=)
10g.79557367C>ACA377352923SFTPA2c.589G>T (p.Asp197Tyr)
c.640G>T (p.Asp214Tyr)
c.619G>T (p.Asp207Tyr)
 dbSNP gnomAD v4
10g.79557367C=CA1922240834SFTPA2c.589G= (p.Asp197=)
c.640G= (p.Asp214=)
c.619G= (p.Asp207=)
10g.79557367C>GCA377352924SFTPA2c.589G>C (p.Asp197His)
c.640G>C (p.Asp214His)
c.619G>C (p.Asp207His)
10g.79557367C>TCA377352925SFTPA2c.589G>A (p.Asp197Asn)
c.640G>A (p.Asp214Asn)
c.619G>A (p.Asp207Asn)
10g.79557368T>ACA470414530SFTPA2c.588A>T (p.Gly196=)
c.639A>T (p.Gly213=)
c.618A>T (p.Gly206=)
10g.79557368T>CCA5574006SFTPA2c.588A>G (p.Gly196=)
c.639A>G (p.Gly213=)
c.618A>G (p.Gly206=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557368T>GCA470414531SFTPA2c.588A>C (p.Gly196=)
c.639A>C (p.Gly213=)
c.618A>C (p.Gly206=)
10g.79557368T=CA1922240838SFTPA2c.588A= (p.Gly196=)
c.639A= (p.Gly213=)
c.618A= (p.Gly206=)
10g.79557369C>ACA5574007SFTPA2c.587G>T (p.Gly196Val)
c.638G>T (p.Gly213Val)
c.617G>T (p.Gly206Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557369C=CA1922240842SFTPA2c.587G= (p.Gly196=)
c.638G= (p.Gly213=)
c.617G= (p.Gly206=)
10g.79557369C>GCA377352926SFTPA2c.587G>C (p.Gly196Ala)
c.638G>C (p.Gly213Ala)
c.617G>C (p.Gly206Ala)
10g.79557369C>TCA377352927SFTPA2c.587G>A (p.Gly196Glu)
c.638G>A (p.Gly213Glu)
c.617G>A (p.Gly206Glu)
10g.79557370C>ACA377352929SFTPA2c.586G>T (p.Gly196Ter)
c.637G>T (p.Gly213Ter)
c.616G>T (p.Gly206Ter)
10g.79557370C>GCA377352930SFTPA2c.586G>C (p.Gly196Arg)
c.637G>C (p.Gly213Arg)
c.616G>C (p.Gly206Arg)
10g.79557370C>TCA377352928SFTPA2c.586G>A (p.Gly196Arg)
c.637G>A (p.Gly213Arg)
c.616G>A (p.Gly206Arg)
10g.79557371A>CCA470414532SFTPA2c.585T>G (p.Pro195=)
c.636T>G (p.Pro212=)
c.615T>G (p.Pro205=)
 gnomAD v4
10g.79557371A>GCA470414533SFTPA2c.585T>C (p.Pro195=)
c.636T>C (p.Pro212=)
c.615T>C (p.Pro205=)
10g.79557371A>TCA470414534SFTPA2c.585T>A (p.Pro195=)
c.636T>A (p.Pro212=)
c.615T>A (p.Pro205=)
10g.79557372G>ACA377352932SFTPA2c.584C>T (p.Pro195Leu)
c.635C>T (p.Pro212Leu)
c.614C>T (p.Pro205Leu)
10g.79557372G>CCA377352931SFTPA2c.584C>G (p.Pro195Arg)
c.635C>G (p.Pro212Arg)
c.614C>G (p.Pro205Arg)
10g.79557372G>TCA377352933SFTPA2c.584C>A (p.Pro195His)
c.635C>A (p.Pro212His)
c.614C>A (p.Pro205His)
 dbSNP
10g.79557373G>ACA210248228SFTPA2c.583C>T (p.Pro195Ser)
c.634C>T (p.Pro212Ser)
c.613C>T (p.Pro205Ser)
 dbSNP gnomAD v4 COSMIC
10g.79557373G>CCA377352934SFTPA2c.583C>G (p.Pro195Ala)
c.634C>G (p.Pro212Ala)
c.613C>G (p.Pro205Ala)
10g.79557373G=CA1922240846SFTPA2c.583C= (p.Pro195=)
c.634C= (p.Pro212=)
c.613C= (p.Pro205=)
10g.79557373G>TCA377352935SFTPA2c.583C>A (p.Pro195Thr)
c.634C>A (p.Pro212Thr)
c.613C>A (p.Pro205Thr)
10g.79557374G>ACA470414535SFTPA2c.582C>T (p.Ser194=)
c.633C>T (p.Ser211=)
c.612C>T (p.Ser204=)
10g.79557374G>CCA377352936SFTPA2c.582C>G (p.Ser194Arg)
c.633C>G (p.Ser211Arg)
c.612C>G (p.Ser204Arg)
10g.79557374G>TCA377352937SFTPA2c.582C>A (p.Ser194Arg)
c.633C>A (p.Ser211Arg)
c.612C>A (p.Ser204Arg)
10g.79557375C>ACA377352940SFTPA2c.581G>T (p.Ser194Ile)
c.632G>T (p.Ser211Ile)
c.611G>T (p.Ser204Ile)
10g.79557375C>GCA377352939SFTPA2c.581G>C (p.Ser194Thr)
c.632G>C (p.Ser211Thr)
c.611G>C (p.Ser204Thr)
10g.79557375C>TCA377352938SFTPA2c.581G>A (p.Ser194Asn)
c.632G>A (p.Ser211Asn)
c.611G>A (p.Ser204Asn)
10g.79557376T>ACA377352941SFTPA2c.580A>T (p.Ser194Cys)
c.631A>T (p.Ser211Cys)
c.610A>T (p.Ser204Cys)
10g.79557376T>CCA377352942SFTPA2c.580A>G (p.Ser194Gly)
c.631A>G (p.Ser211Gly)
c.610A>G (p.Ser204Gly)
10g.79557376T>GCA377352943SFTPA2c.580A>C (p.Ser194Arg)
c.631A>C (p.Ser211Arg)
c.610A>C (p.Ser204Arg)
10g.79557377G>ACA470414536SFTPA2c.579C>T (p.Pro193=)
c.630C>T (p.Pro210=)
c.609C>T (p.Pro203=)
10g.79557377G>CCA470414537SFTPA2c.579C>G (p.Pro193=)
c.630C>G (p.Pro210=)
c.609C>G (p.Pro203=)
10g.79557377G>TCA470414538SFTPA2c.579C>A (p.Pro193=)
c.630C>A (p.Pro210=)
c.609C>A (p.Pro203=)
10g.79557378G>ACA377352944SFTPA2c.578C>T (p.Pro193Leu)
c.629C>T (p.Pro210Leu)
c.608C>T (p.Pro203Leu)
 COSMIC
10g.79557378G>CCA377352945SFTPA2c.578C>G (p.Pro193Arg)
c.629C>G (p.Pro210Arg)
c.608C>G (p.Pro203Arg)
10g.79557378G>TCA377352946SFTPA2c.578C>A (p.Pro193His)
c.629C>A (p.Pro210His)
c.608C>A (p.Pro203His)
10g.79557379G>ACA377352947SFTPA2c.577C>T (p.Pro193Ser)
c.628C>T (p.Pro210Ser)
c.607C>T (p.Pro203Ser)
 gnomAD v4 COSMIC
10g.79557379G>CCA377352949SFTPA2c.577C>G (p.Pro193Ala)
c.628C>G (p.Pro210Ala)
c.607C>G (p.Pro203Ala)
10g.79557379G>TCA377352948SFTPA2c.577C>A (p.Pro193Thr)
c.628C>A (p.Pro210Thr)
c.607C>A (p.Pro203Thr)
10g.79557380A>CCA470414539SFTPA2c.576T>G (p.Gly192=)
c.627T>G (p.Gly209=)
c.606T>G (p.Gly202=)
10g.79557380A>GCA470414540SFTPA2c.576T>C (p.Gly192=)
c.627T>C (p.Gly209=)
c.606T>C (p.Gly202=)
10g.79557380A>TCA470414541SFTPA2c.576T>A (p.Gly192=)
c.627T>A (p.Gly209=)
c.606T>A (p.Gly202=)
10g.79557381C>ACA377352950SFTPA2c.575G>T (p.Gly192Val)
c.626G>T (p.Gly209Val)
c.605G>T (p.Gly202Val)
 gnomAD v4
10g.79557381C>GCA377352951SFTPA2c.575G>C (p.Gly192Ala)
c.626G>C (p.Gly209Ala)
c.605G>C (p.Gly202Ala)
10g.79557381C>TCA377352952SFTPA2c.575G>A (p.Gly192Asp)
c.626G>A (p.Gly209Asp)
c.605G>A (p.Gly202Asp)
10g.79557382C>ACA377352953SFTPA2c.574G>T (p.Gly192Cys)
c.625G>T (p.Gly209Cys)
c.604G>T (p.Gly202Cys)
 gnomAD v4
10g.79557382C=CA1922240852SFTPA2c.574G= (p.Gly192=)
c.625G= (p.Gly209=)
c.604G= (p.Gly202=)
10g.79557382C>GCA377352954SFTPA2c.574G>C (p.Gly192Arg)
c.625G>C (p.Gly209Arg)
c.604G>C (p.Gly202Arg)
10g.79557382C>TCA377352955SFTPA2c.574G>A (p.Gly192Ser)
c.625G>A (p.Gly209Ser)
c.604G>A (p.Gly202Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.79557383C>ACA377352956SFTPA2c.573G>T (p.Glu191Asp)
c.624G>T (p.Glu208Asp)
c.603G>T (p.Glu201Asp)
10g.79557383C>GCA377352957SFTPA2c.573G>C (p.Glu191Asp)
c.624G>C (p.Glu208Asp)
c.603G>C (p.Glu201Asp)
10g.79557383C>TCA470414542SFTPA2c.573G>A (p.Glu191=)
c.624G>A (p.Glu208=)
c.603G>A (p.Glu201=)
10g.79557384T>ACA377352958SFTPA2c.572A>T (p.Glu191Val)
c.623A>T (p.Glu208Val)
c.602A>T (p.Glu201Val)
10g.79557384T>CCA377352959SFTPA2c.572A>G (p.Glu191Gly)
c.623A>G (p.Glu208Gly)
c.602A>G (p.Glu201Gly)
10g.79557384T>GCA377352960SFTPA2c.572A>C (p.Glu191Ala)
c.623A>C (p.Glu208Ala)
c.602A>C (p.Glu201Ala)
10g.79557385C>ACA377352963SFTPA2c.571G>T (p.Glu191Ter)
c.622G>T (p.Glu208Ter)
c.601G>T (p.Glu201Ter)
10g.79557385C=CA1922240857SFTPA2c.571G= (p.Glu191=)
c.622G= (p.Glu208=)
c.601G= (p.Glu201=)
10g.79557385C>GCA377352962SFTPA2c.571G>C (p.Glu191Gln)
c.622G>C (p.Glu208Gln)
c.601G>C (p.Glu201Gln)
10g.79557385C>TCA377352961SFTPA2c.571G>A (p.Glu191Lys)
c.622G>A (p.Glu208Lys)
c.601G>A (p.Glu201Lys)
 gnomAD v4
10g.79557386A>CCA470414543SFTPA2c.570T>G (p.Thr190=)
c.621T>G (p.Thr207=)
c.600T>G (p.Thr200=)
10g.79557386A>GCA470414544SFTPA2c.570T>C (p.Thr190=)
c.621T>C (p.Thr207=)
c.600T>C (p.Thr200=)
 COSMIC
10g.79557386A>TCA470414545SFTPA2c.570T>A (p.Thr190=)
c.621T>A (p.Thr207=)
c.600T>A (p.Thr200=)
 gnomAD v4
10g.79557386dupCA5574008SFTPA2c.570dup (p.Glu191Ter)
c.621dup (p.Glu208Ter)
c.600dup (p.Glu201Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557387G>ACA377352964SFTPA2c.569C>T (p.Thr190Ile)
c.620C>T (p.Thr207Ile)
c.599C>T (p.Thr200Ile)
10g.79557387G>CCA377352965SFTPA2c.569C>G (p.Thr190Ser)
c.620C>G (p.Thr207Ser)
c.599C>G (p.Thr200Ser)
10g.79557387G>TCA377352966SFTPA2c.569C>A (p.Thr190Asn)
c.620C>A (p.Thr207Asn)
c.599C>A (p.Thr200Asn)
10g.79557388T>ACA377352967SFTPA2c.568A>T (p.Thr190Ser)
c.619A>T (p.Thr207Ser)
c.598A>T (p.Thr200Ser)
10g.79557388T>CCA377352968SFTPA2c.568A>G (p.Thr190Ala)
c.619A>G (p.Thr207Ala)
c.598A>G (p.Thr200Ala)
10g.79557388T>GCA377352969SFTPA2c.568A>C (p.Thr190Pro)
c.619A>C (p.Thr207Pro)
c.598A>C (p.Thr200Pro)
10g.79557389C>ACA470414546SFTPA2c.567G>T (p.Leu189=)
c.618G>T (p.Leu206=)
c.597G>T (p.Leu199=)
 gnomAD v4
10g.79557389C=CA1922240861SFTPA2c.567G= (p.Leu189=)
c.618G= (p.Leu206=)
c.597G= (p.Leu199=)
10g.79557389C>GCA470414547SFTPA2c.567G>C (p.Leu189=)
c.618G>C (p.Leu206=)
c.597G>C (p.Leu199=)
10g.79557389C>TCA5574009SFTPA2c.567G>A (p.Leu189=)
c.618G>A (p.Leu206=)
c.597G>A (p.Leu199=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557390A>CCA377352970SFTPA2c.566T>G (p.Leu189Arg)
c.617T>G (p.Leu206Arg)
c.596T>G (p.Leu199Arg)
10g.79557390A>GCA377352971SFTPA2c.566T>C (p.Leu189Pro)
c.617T>C (p.Leu206Pro)
c.596T>C (p.Leu199Pro)
10g.79557390A>TCA377352972SFTPA2c.566T>A (p.Leu189Gln)
c.617T>A (p.Leu206Gln)
c.596T>A (p.Leu199Gln)
10g.79557391G>ACA470414548SFTPA2c.565C>T (p.Leu189=)
c.616C>T (p.Leu206=)
c.595C>T (p.Leu199=)
 gnomAD v4
10g.79557391G>CCA377352973SFTPA2c.565C>G (p.Leu189Val)
c.616C>G (p.Leu206Val)
c.595C>G (p.Leu199Val)
10g.79557391G>TCA377352974SFTPA2c.565C>A (p.Leu189Met)
c.616C>A (p.Leu206Met)
c.595C>A (p.Leu199Met)
10g.79557392G>ACA5574010SFTPA2c.564C>T (p.Gly188=)
c.615C>T (p.Gly205=)
c.594C>T (p.Gly198=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557392G>CCA470414549SFTPA2c.564C>G (p.Gly188=)
c.615C>G (p.Gly205=)
c.594C>G (p.Gly198=)
10g.79557392G=CA1922240865SFTPA2c.564C= (p.Gly188=)
c.615C= (p.Gly205=)
c.594C= (p.Gly198=)
10g.79557392G>TCA470414550SFTPA2c.564C>A (p.Gly188=)
c.615C>A (p.Gly205=)
c.594C>A (p.Gly198=)
10g.79557393C>ACA377352975SFTPA2c.563G>T (p.Gly188Val)
c.614G>T (p.Gly205Val)
c.593G>T (p.Gly198Val)
10g.79557393C>GCA377352977SFTPA2c.563G>C (p.Gly188Ala)
c.614G>C (p.Gly205Ala)
c.593G>C (p.Gly198Ala)
10g.79557393C>TCA377352976SFTPA2c.563G>A (p.Gly188Asp)
c.614G>A (p.Gly205Asp)
c.593G>A (p.Gly198Asp)
 gnomAD v4
10g.79557394C>ACA377352978SFTPA2c.562G>T (p.Gly188Cys)
c.613G>T (p.Gly205Cys)
c.592G>T (p.Gly198Cys)
10g.79557394C>GCA377352979SFTPA2c.562G>C (p.Gly188Arg)
c.613G>C (p.Gly205Arg)
c.592G>C (p.Gly198Arg)
10g.79557394C>TCA377352980SFTPA2c.562G>A (p.Gly188Ser)
c.613G>A (p.Gly205Ser)
c.592G>A (p.Gly198Ser)
10g.79557395T>ACA470414551SFTPA2c.561A>T (p.Val187=)
c.612A>T (p.Val204=)
c.591A>T (p.Val197=)
 dbSNP
10g.79557395T>CCA470414553SFTPA2c.561A>G (p.Val187=)
c.612A>G (p.Val204=)
c.591A>G (p.Val197=)
10g.79557395T>GCA470414552SFTPA2c.561A>C (p.Val187=)
c.612A>C (p.Val204=)
c.591A>C (p.Val197=)
10g.79557395T=CA1922240867SFTPA2c.561A= (p.Val187=)
c.612A= (p.Val204=)
c.591A= (p.Val197=)
10g.79557396A>CCA377352981SFTPA2c.560T>G (p.Val187Gly)
c.611T>G (p.Val204Gly)
c.590T>G (p.Val197Gly)
10g.79557396A>GCA377352982SFTPA2c.560T>C (p.Val187Ala)
c.611T>C (p.Val204Ala)
c.590T>C (p.Val197Ala)
10g.79557396A>TCA377352983SFTPA2c.560T>A (p.Val187Glu)
c.611T>A (p.Val204Glu)
c.590T>A (p.Val197Glu)
10g.79557397C>ACA377352984SFTPA2c.559G>T (p.Val187Leu)
c.610G>T (p.Val204Leu)
c.589G>T (p.Val197Leu)
10g.79557397C=CA1922240870SFTPA2c.559G= (p.Val187=)
c.610G= (p.Val204=)
c.589G= (p.Val197=)
10g.79557397C>GCA377352985SFTPA2c.559G>C (p.Val187Leu)
c.610G>C (p.Val204Leu)
c.589G>C (p.Val197Leu)
10g.79557397C>TCA5574011SFTPA2c.559G>A (p.Val187Ile)
c.610G>A (p.Val204Ile)
c.589G>A (p.Val197Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557398A>CCA377352986SFTPA2c.558T>G (p.Tyr186Ter)
c.609T>G (p.Tyr203Ter)
c.588T>G (p.Tyr196Ter)
10g.79557398A>GCA470414554SFTPA2c.558T>C (p.Tyr186=)
c.609T>C (p.Tyr203=)
c.588T>C (p.Tyr196=)
10g.79557398A>TCA377352987SFTPA2c.558T>A (p.Tyr186Ter)
c.609T>A (p.Tyr203Ter)
c.588T>A (p.Tyr196Ter)
 gnomAD v4
10g.79557399T>ACA377352990SFTPA2c.557A>T (p.Tyr186Phe)
c.608A>T (p.Tyr203Phe)
c.587A>T (p.Tyr196Phe)
 dbSNP gnomAD v4
10g.79557399T>CCA377352989SFTPA2c.557A>G (p.Tyr186Cys)
c.608A>G (p.Tyr203Cys)
c.587A>G (p.Tyr196Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557399T>GCA377352988SFTPA2c.557A>C (p.Tyr186Ser)
c.608A>C (p.Tyr203Ser)
c.587A>C (p.Tyr196Ser)
10g.79557399T=CA1922240874SFTPA2c.557A= (p.Tyr186=)
c.608A= (p.Tyr203=)
c.587A= (p.Tyr196=)

Number of alleles fetched