Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.79557264C>ACA256736SFTPA2c.692G>T (p.Gly231Val)
c.743G>T (p.Gly248Val)
c.722G>T (p.Gly241Val)
 ClinVar dbSNP
10g.79557264C=CA1922240649SFTPA2c.692G= (p.Gly231=)
c.743G= (p.Gly248=)
c.722G= (p.Gly241=)
10g.79557264C>GCA377352705SFTPA2c.692G>C (p.Gly231Ala)
c.743G>C (p.Gly248Ala)
c.722G>C (p.Gly241Ala)
10g.79557264C>TCA377352706SFTPA2c.692G>A (p.Gly231Glu)
c.743G>A (p.Gly248Glu)
c.722G>A (p.Gly241Glu)
10g.79557265C>ACA377352708SFTPA2c.691G>T (p.Gly231Trp)
c.742G>T (p.Gly248Trp)
c.721G>T (p.Gly241Trp)
10g.79557265C=CA1922240655SFTPA2c.691G= (p.Gly231=)
c.742G= (p.Gly248=)
c.721G= (p.Gly241=)
10g.79557265C>GCA377352709SFTPA2c.691G>C (p.Gly231Arg)
c.742G>C (p.Gly248Arg)
c.721G>C (p.Gly241Arg)
10g.79557265C>TCA377352707SFTPA2c.691G>A (p.Gly231Arg)
c.742G>A (p.Gly248Arg)
c.721G>A (p.Gly241Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.79557266delCA2609869138SFTPA2c.690del (p.Asp230GlufsTer14)
c.741del (p.Asp247GlufsTer14)
c.720del (p.Asp240GlufsTer14)
 gnomAD v4
10g.79557266A=CA1922240658SFTPA2c.690T= (p.Asp230=)
c.741T= (p.Asp247=)
c.720T= (p.Asp240=)
10g.79557266A>CCA377352710SFTPA2c.690T>G (p.Asp230Glu)
c.741T>G (p.Asp247Glu)
c.720T>G (p.Asp240Glu)
10g.79557266A>GCA5573978SFTPA2c.690T>C (p.Asp230=)
c.741T>C (p.Asp247=)
c.720T>C (p.Asp240=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557266A>TCA377352711SFTPA2c.690T>A (p.Asp230Glu)
c.741T>A (p.Asp247Glu)
c.720T>A (p.Asp240Glu)
 gnomAD v4
10g.79557267T>ACA377352712SFTPA2c.689A>T (p.Asp230Val)
c.740A>T (p.Asp247Val)
c.719A>T (p.Asp240Val)
10g.79557267T>CCA377352713SFTPA2c.689A>G (p.Asp230Gly)
c.740A>G (p.Asp247Gly)
c.719A>G (p.Asp240Gly)
10g.79557267T>GCA377352714SFTPA2c.689A>C (p.Asp230Ala)
c.740A>C (p.Asp247Ala)
c.719A>C (p.Asp240Ala)
10g.79557268C>ACA377352715SFTPA2c.688G>T (p.Asp230Tyr)
c.739G>T (p.Asp247Tyr)
c.718G>T (p.Asp240Tyr)
10g.79557268C>GCA377352716SFTPA2c.688G>C (p.Asp230His)
c.739G>C (p.Asp247His)
c.718G>C (p.Asp240His)
10g.79557268C>TCA377352717SFTPA2c.688G>A (p.Asp230Asn)
c.739G>A (p.Asp247Asn)
c.718G>A (p.Asp240Asn)
10g.79557269T>ACA470414470SFTPA2c.687A>T (p.Thr229=)
c.738A>T (p.Thr246=)
c.717A>T (p.Thr239=)
10g.79557269T>CCA470414472SFTPA2c.687A>G (p.Thr229=)
c.738A>G (p.Thr246=)
c.717A>G (p.Thr239=)
10g.79557269T>GCA470414471SFTPA2c.687A>C (p.Thr229=)
c.738A>C (p.Thr246=)
c.717A>C (p.Thr239=)
 COSMIC
10g.79557270G>ACA377352718SFTPA2c.686C>T (p.Thr229Ile)
c.737C>T (p.Thr246Ile)
c.716C>T (p.Thr239Ile)
10g.79557270G>CCA377352719SFTPA2c.686C>G (p.Thr229Arg)
c.737C>G (p.Thr246Arg)
c.716C>G (p.Thr239Arg)
10g.79557270G>TCA377352720SFTPA2c.686C>A (p.Thr229Lys)
c.737C>A (p.Thr246Lys)
c.716C>A (p.Thr239Lys)
10g.79557271T>ACA377352721SFTPA2c.685A>T (p.Thr229Ser)
c.736A>T (p.Thr246Ser)
c.715A>T (p.Thr239Ser)
10g.79557271T>CCA5573979SFTPA2c.685A>G (p.Thr229Ala)
c.736A>G (p.Thr246Ala)
c.715A>G (p.Thr239Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557271T>GCA377352722SFTPA2c.685A>C (p.Thr229Pro)
c.736A>C (p.Thr246Pro)
c.715A>C (p.Thr239Pro)
10g.79557271T=CA1922240662SFTPA2c.685A= (p.Thr229=)
c.736A= (p.Thr246=)
c.715A= (p.Thr239=)
10g.79557272G>ACA470414473SFTPA2c.684C>T (p.Tyr228=)
c.735C>T (p.Tyr245=)
c.714C>T (p.Tyr238=)
10g.79557272G>CCA377352724SFTPA2c.684C>G (p.Tyr228Ter)
c.735C>G (p.Tyr245Ter)
c.714C>G (p.Tyr238Ter)
 gnomAD v4
10g.79557272G>TCA377352723SFTPA2c.684C>A (p.Tyr228Ter)
c.735C>A (p.Tyr245Ter)
c.714C>A (p.Tyr238Ter)
10g.79557273T>ACA377352725SFTPA2c.683A>T (p.Tyr228Phe)
c.734A>T (p.Tyr245Phe)
c.713A>T (p.Tyr238Phe)
10g.79557273T>CCA377352726SFTPA2c.683A>G (p.Tyr228Cys)
c.734A>G (p.Tyr245Cys)
c.713A>G (p.Tyr238Cys)
 COSMIC
10g.79557273T>GCA377352727SFTPA2c.683A>C (p.Tyr228Ser)
c.734A>C (p.Tyr245Ser)
c.713A>C (p.Tyr238Ser)
10g.79557274A=CA1922240664SFTPA2c.682T= (p.Tyr228=)
c.733T= (p.Tyr245=)
c.712T= (p.Tyr238=)
10g.79557274A>CCA377352728SFTPA2c.682T>G (p.Tyr228Asp)
c.733T>G (p.Tyr245Asp)
c.712T>G (p.Tyr238Asp)
10g.79557274A>GCA5573980SFTPA2c.682T>C (p.Tyr228His)
c.733T>C (p.Tyr245His)
c.712T>C (p.Tyr238His)
 dbSNP ExAC gnomAD v2
10g.79557274A>TCA377352729SFTPA2c.682T>A (p.Tyr228Asn)
c.733T>A (p.Tyr245Asn)
c.712T>A (p.Tyr238Asn)
10g.79557275C>ACA377352730SFTPA2c.681G>T (p.Met227Ile)
c.732G>T (p.Met244Ile)
c.711G>T (p.Met237Ile)
10g.79557275C=CA1922240668SFTPA2c.681G= (p.Met227=)
c.732G= (p.Met244=)
c.711G= (p.Met237=)
10g.79557275C>GCA377352731SFTPA2c.681G>C (p.Met227Ile)
c.732G>C (p.Met244Ile)
c.711G>C (p.Met237Ile)
10g.79557275C>TCA5573981SFTPA2c.681G>A (p.Met227Ile)
c.732G>A (p.Met244Ile)
c.711G>A (p.Met237Ile)
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.79557276A>CCA377352732SFTPA2c.680T>G (p.Met227Arg)
c.731T>G (p.Met244Arg)
c.710T>G (p.Met237Arg)
 ClinVar dbSNP
10g.79557276A>GCA377352733SFTPA2c.680T>C (p.Met227Thr)
c.731T>C (p.Met244Thr)
c.710T>C (p.Met237Thr)
10g.79557276A>TCA377352734SFTPA2c.680T>A (p.Met227Lys)
c.731T>A (p.Met244Lys)
c.710T>A (p.Met237Lys)
10g.79557277T>ACA377352737SFTPA2c.679A>T (p.Met227Leu)
c.730A>T (p.Met244Leu)
c.709A>T (p.Met237Leu)
 gnomAD v4
10g.79557277T>CCA377352736SFTPA2c.679A>G (p.Met227Val)
c.730A>G (p.Met244Val)
c.709A>G (p.Met237Val)
10g.79557277T>GCA377352735SFTPA2c.679A>C (p.Met227Leu)
c.730A>C (p.Met244Leu)
c.709A>C (p.Met237Leu)
10g.79557278C>ACA5573982SFTPA2c.678G>T (p.Glu226Asp)
c.729G>T (p.Glu243Asp)
c.708G>T (p.Glu236Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched