Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.79559361_79559370delCA2574596585SFTPA2c.117_126del (p.His39GlnfsTer?)
c.168_177del (p.His56GlnfsTer?)
c.147_156del (p.His49GlnfsTer?)
10g.79559362A>CCA377353967SFTPA2c.122T>G (p.Leu41Arg)
c.173T>G (p.Leu58Arg)
c.152T>G (p.Leu51Arg)
gnomAD v4
10g.79559362A>GCA377353965SFTPA2c.122T>C (p.Leu41Pro)
c.173T>C (p.Leu58Pro)
c.152T>C (p.Leu51Pro)
10g.79559362A>TCA377353966SFTPA2c.122T>A (p.Leu41Gln)
c.173T>A (p.Leu58Gln)
c.152T>A (p.Leu51Gln)
COSMIC
10g.79559363G>ACA470417521SFTPA2c.121C>T (p.Leu41=)
c.172C>T (p.Leu58=)
c.151C>T (p.Leu51=)
10g.79559363G>CCA377353968SFTPA2c.121C>G (p.Leu41Val)
c.172C>G (p.Leu58Val)
c.151C>G (p.Leu51Val)
dbSNP
10g.79559363G=CA1922245522SFTPA2c.121C= (p.Leu41=)
c.172C= (p.Leu58=)
c.151C= (p.Leu51=)
10g.79559363G>TCA377353969SFTPA2c.121C>A (p.Leu41Met)
c.172C>A (p.Leu58Met)
c.151C>A (p.Leu51Met)
10g.79559363_79559365delCA2609869143SFTPA2c.119_121del (p.Gly40_Leu41delinsVal)
c.170_172del (p.Gly57_Leu58delinsVal)
c.149_151del (p.Gly50_Leu51delinsVal)
gnomAD v4
10g.79559364G>ACA470417524SFTPA2c.120C>T (p.Gly40=)
c.171C>T (p.Gly57=)
c.150C>T (p.Gly50=)
dbSNP
10g.79559364G>CCA470417523SFTPA2c.120C>G (p.Gly40=)
c.171C>G (p.Gly57=)
c.150C>G (p.Gly50=)
gnomAD v4
10g.79559364G=CA1922245523SFTPA2c.120C= (p.Gly40=)
c.171C= (p.Gly57=)
c.150C= (p.Gly50=)
10g.79559364G>TCA470417522SFTPA2c.120C>A (p.Gly40=)
c.171C>A (p.Gly57=)
c.150C>A (p.Gly50=)
10g.79559365C>ACA377353970SFTPA2c.119G>T (p.Gly40Val)
c.170G>T (p.Gly57Val)
c.149G>T (p.Gly50Val)
10g.79559365C=CA1922245524SFTPA2c.119G= (p.Gly40=)
c.170G= (p.Gly57=)
c.149G= (p.Gly50=)
10g.79559365C>GCA377353971SFTPA2c.119G>C (p.Gly40Ala)
c.170G>C (p.Gly57Ala)
c.149G>C (p.Gly50Ala)
10g.79559365C>TCA210251161SFTPA2c.119G>A (p.Gly40Asp)
c.170G>A (p.Gly57Asp)
c.149G>A (p.Gly50Asp)
dbSNP
10g.79559366C>ACA377353972SFTPA2c.118G>T (p.Gly40Cys)
c.169G>T (p.Gly57Cys)
c.148G>T (p.Gly50Cys)
10g.79559366C=CA1922245525SFTPA2c.118G= (p.Gly40=)
c.169G= (p.Gly57=)
c.148G= (p.Gly50=)
10g.79559366C>GCA5574206SFTPA2c.118G>C (p.Gly40Arg)
c.169G>C (p.Gly57Arg)
c.148G>C (p.Gly50Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559366C>TCA5574205SFTPA2c.118G>A (p.Gly40Ser)
c.169G>A (p.Gly57Ser)
c.148G>A (p.Gly50Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559367G>ACA5574207SFTPA2c.117C>T (p.His39=)
c.168C>T (p.His56=)
c.147C>T (p.His49=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79559367G>CCA5574208SFTPA2c.117C>G (p.His39Gln)
c.168C>G (p.His56Gln)
c.147C>G (p.His49Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79559367G=CA1922245526SFTPA2c.117C= (p.His39=)
c.168C= (p.His56=)
c.147C= (p.His49=)
10g.79559367G>TCA377353973SFTPA2c.117C>A (p.His39Gln)
c.168C>A (p.His56Gln)
c.147C>A (p.His49Gln)
10g.79559368T>ACA377353975SFTPA2c.116A>T (p.His39Leu)
c.167A>T (p.His56Leu)
c.146A>T (p.His49Leu)
10g.79559368T>CCA377353976SFTPA2c.116A>G (p.His39Arg)
c.167A>G (p.His56Arg)
c.146A>G (p.His49Arg)
10g.79559368T>GCA377353974SFTPA2c.116A>C (p.His39Pro)
c.167A>C (p.His56Pro)
c.146A>C (p.His49Pro)
10g.79559369G>ACA377353977SFTPA2c.115C>T (p.His39Tyr)
c.166C>T (p.His56Tyr)
c.145C>T (p.His49Tyr)
10g.79559369G>CCA377353978SFTPA2c.115C>G (p.His39Asp)
c.166C>G (p.His56Asp)
c.145C>G (p.His49Asp)
dbSNP gnomAD v3 gnomAD v4
10g.79559369G=CA1922245527SFTPA2c.115C= (p.His39=)
c.166C= (p.His56=)
c.145C= (p.His49=)
10g.79559369G>TCA377353979SFTPA2c.115C>A (p.His39Asn)
c.166C>A (p.His56Asn)
c.145C>A (p.His49Asn)
10g.79559370G>ACA470417525SFTPA2c.114C>T (p.Ser38=)
c.165C>T (p.Ser55=)
c.144C>T (p.Ser48=)
10g.79559370G>CCA470417526SFTPA2c.114C>G (p.Ser38=)
c.165C>G (p.Ser55=)
c.144C>G (p.Ser48=)
10g.79559370G>TCA470417527SFTPA2c.114C>A (p.Ser38=)
c.165C>A (p.Ser55=)
c.144C>A (p.Ser48=)
10g.79559371G>ACA377353980SFTPA2c.113C>T (p.Ser38Phe)
c.164C>T (p.Ser55Phe)
c.143C>T (p.Ser48Phe)
10g.79559371G>CCA377353981SFTPA2c.113C>G (p.Ser38Cys)
c.164C>G (p.Ser55Cys)
c.143C>G (p.Ser48Cys)
10g.79559371G>TCA377353982SFTPA2c.113C>A (p.Ser38Tyr)
c.164C>A (p.Ser55Tyr)
c.143C>A (p.Ser48Tyr)
10g.79559372A>CCA377353984SFTPA2c.112T>G (p.Ser38Ala)
c.163T>G (p.Ser55Ala)
c.142T>G (p.Ser48Ala)
gnomAD v4
10g.79559372A>GCA377353986SFTPA2c.112T>C (p.Ser38Pro)
c.163T>C (p.Ser55Pro)
c.142T>C (p.Ser48Pro)
10g.79559372A>TCA377353987SFTPA2c.112T>A (p.Ser38Thr)
c.163T>A (p.Ser55Thr)
c.142T>A (p.Ser48Thr)
10g.79559373T>ACA470417528SFTPA2c.111A>T (p.Gly37=)
c.162A>T (p.Gly54=)
c.141A>T (p.Gly47=)
10g.79559373T>CCA470417529SFTPA2c.111A>G (p.Gly37=)
c.162A>G (p.Gly54=)
c.141A>G (p.Gly47=)
dbSNP
10g.79559373T>GCA470417530SFTPA2c.111A>C (p.Gly37=)
c.162A>C (p.Gly54=)
c.141A>C (p.Gly47=)
10g.79559373T=CA1922245528SFTPA2c.111A= (p.Gly37=)
c.162A= (p.Gly54=)
c.141A= (p.Gly47=)
10g.79559374C>ACA377353989SFTPA2c.110G>T (p.Gly37Val)
c.161G>T (p.Gly54Val)
c.140G>T (p.Gly47Val)
10g.79559374C>GCA377353991SFTPA2c.110G>C (p.Gly37Ala)
c.161G>C (p.Gly54Ala)
c.140G>C (p.Gly47Ala)
10g.79559374C>TCA377353993SFTPA2c.110G>A (p.Gly37Glu)
c.161G>A (p.Gly54Glu)
c.140G>A (p.Gly47Glu)
10g.79559375C>ACA377353997SFTPA2c.109G>T (p.Gly37Ter)
c.160G>T (p.Gly54Ter)
c.139G>T (p.Gly47Ter)
10g.79559375C=CA1922245529SFTPA2c.109G= (p.Gly37=)
c.160G= (p.Gly54=)
c.139G= (p.Gly47=)
10g.79559375C>GCA377353999SFTPA2c.109G>C (p.Gly37Arg)
c.160G>C (p.Gly54Arg)
c.139G>C (p.Gly47Arg)
10g.79559375C>TCA377353995SFTPA2c.109G>A (p.Gly37Arg)
c.160G>A (p.Gly54Arg)
c.139G>A (p.Gly47Arg)
dbSNP gnomAD v3 gnomAD v4
10g.79559376A>CCA470417531SFTPA2c.108T>G (p.Pro36=)
c.159T>G (p.Pro53=)
c.138T>G (p.Pro46=)
10g.79559376A>GCA470417532SFTPA2c.108T>C (p.Pro36=)
c.159T>C (p.Pro53=)
c.138T>C (p.Pro46=)
10g.79559376A>TCA470417533SFTPA2c.108T>A (p.Pro36=)
c.159T>A (p.Pro53=)
c.138T>A (p.Pro46=)
10g.79559377G>ACA377354001SFTPA2c.107C>T (p.Pro36Leu)
c.158C>T (p.Pro53Leu)
c.137C>T (p.Pro46Leu)
dbSNP
10g.79559377G>CCA377354002SFTPA2c.107C>G (p.Pro36Arg)
c.158C>G (p.Pro53Arg)
c.137C>G (p.Pro46Arg)
10g.79559377G>TCA377354004SFTPA2c.107C>A (p.Pro36His)
c.158C>A (p.Pro53His)
c.137C>A (p.Pro46His)
COSMIC
10g.79559378G>ACA377354006SFTPA2c.106C>T (p.Pro36Ser)
c.157C>T (p.Pro53Ser)
c.136C>T (p.Pro46Ser)
dbSNP
10g.79559378G>CCA377354007SFTPA2c.106C>G (p.Pro36Ala)
c.157C>G (p.Pro53Ala)
c.136C>G (p.Pro46Ala)
gnomAD v4
10g.79559378G>TCA377354008SFTPA2c.106C>A (p.Pro36Thr)
c.157C>A (p.Pro53Thr)
c.136C>A (p.Pro46Thr)
10g.79559379A=CA1922245530SFTPA2c.105T= (p.Thr35=)
c.156T= (p.Thr52=)
c.135T= (p.Thr45=)
10g.79559379A>CCA470417534SFTPA2c.105T>G (p.Thr35=)
c.156T>G (p.Thr52=)
c.135T>G (p.Thr45=)
10g.79559379A>GCA5574209SFTPA2c.105T>C (p.Thr35=)
c.156T>C (p.Thr52=)
c.135T>C (p.Thr45=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79559379A>TCA470417535SFTPA2c.105T>A (p.Thr35=)
c.156T>A (p.Thr52=)
c.135T>A (p.Thr45=)
10g.79559380G>ACA377354009SFTPA2c.104C>T (p.Thr35Ile)
c.155C>T (p.Thr52Ile)
c.134C>T (p.Thr45Ile)
gnomAD v4
10g.79559380G>CCA377354011SFTPA2c.104C>G (p.Thr35Ser)
c.155C>G (p.Thr52Ser)
c.134C>G (p.Thr45Ser)
10g.79559380G>TCA377354013SFTPA2c.104C>A (p.Thr35Asn)
c.155C>A (p.Thr52Asn)
c.134C>A (p.Thr45Asn)
10g.79559381T>ACA377354015SFTPA2c.103A>T (p.Thr35Ser)
c.154A>T (p.Thr52Ser)
c.133A>T (p.Thr45Ser)
10g.79559381T>CCA377354017SFTPA2c.103A>G (p.Thr35Ala)
c.154A>G (p.Thr52Ala)
c.133A>G (p.Thr45Ala)
10g.79559381T>GCA377354018SFTPA2c.103A>C (p.Thr35Pro)
c.154A>C (p.Thr52Pro)
c.133A>C (p.Thr45Pro)
10g.79559382G>ACA470417536SFTPA2c.102C>T (p.Gly34=)
c.153C>T (p.Gly51=)
c.132C>T (p.Gly44=)
gnomAD v4
10g.79559382G>CCA470417537SFTPA2c.102C>G (p.Gly34=)
c.153C>G (p.Gly51=)
c.132C>G (p.Gly44=)
10g.79559382G>TCA470417538SFTPA2c.102C>A (p.Gly34=)
c.153C>A (p.Gly51=)
c.132C>A (p.Gly44=)
gnomAD v4
10g.79559383C>ACA377354021SFTPA2c.101G>T (p.Gly34Val)
c.152G>T (p.Gly51Val)
c.131G>T (p.Gly44Val)
dbSNP gnomAD v3 gnomAD v4
10g.79559383C=CA1922245531SFTPA2c.101G= (p.Gly34=)
c.152G= (p.Gly51=)
c.131G= (p.Gly44=)
10g.79559383C>GCA377354020SFTPA2c.101G>C (p.Gly34Ala)
c.152G>C (p.Gly51Ala)
c.131G>C (p.Gly44Ala)
gnomAD v4
10g.79559383C>TCA377354019SFTPA2c.101G>A (p.Gly34Asp)
c.152G>A (p.Gly51Asp)
c.131G>A (p.Gly44Asp)
dbSNP
10g.79559384C>ACA377354024SFTPA2c.100G>T (p.Gly34Cys)
c.151G>T (p.Gly51Cys)
c.130G>T (p.Gly44Cys)
10g.79559384C=CA1922245533SFTPA2c.100G= (p.Gly34=)
c.151G= (p.Gly51=)
c.130G= (p.Gly44=)
10g.79559384C>GCA377354026SFTPA2c.100G>C (p.Gly34Arg)
c.151G>C (p.Gly51Arg)
c.130G>C (p.Gly44Arg)
10g.79559384C>TCA5574210SFTPA2c.100G>A (p.Gly34Ser)
c.151G>A (p.Gly51Ser)
c.130G>A (p.Gly44Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79559384_79559394delinsCGGGGATACCACA1922245532SFTPA2c.90_100delinsTGGTATCCCCG (p.Pro30=)
c.141_151delinsTGGTATCCCCG (p.Pro47=)
c.120_130delinsTGGTATCCCCG (p.Pro40=)
10g.79559385G>ACA5574212SFTPA2c.99C>T (p.Pro33=)
c.150C>T (p.Pro50=)
c.129C>T (p.Pro43=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559385G>CCA470417539SFTPA2c.99C>G (p.Pro33=)
c.150C>G (p.Pro50=)
c.129C>G (p.Pro43=)
10g.79559385G=CA1922245534SFTPA2c.99C= (p.Pro33=)
c.150C= (p.Pro50=)
c.129C= (p.Pro43=)
10g.79559385G>TCA470417540SFTPA2c.99C>A (p.Pro33=)
c.150C>A (p.Pro50=)
c.129C>A (p.Pro43=)
gnomAD v4
10g.79559388_79559397delCA5574211SFTPA2c.90_99del (p.Gly31AlafsTer?)
c.141_150del (p.Gly48AlafsTer?)
c.120_129del (p.Gly41AlafsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79559386G>ACA377354029SFTPA2c.98C>T (p.Pro33Leu)
c.149C>T (p.Pro50Leu)
c.128C>T (p.Pro43Leu)
gnomAD v4
10g.79559386G>CCA377354031SFTPA2c.98C>G (p.Pro33Arg)
c.149C>G (p.Pro50Arg)
c.128C>G (p.Pro43Arg)
gnomAD v4
10g.79559386G>TCA377354033SFTPA2c.98C>A (p.Pro33His)
c.149C>A (p.Pro50His)
c.128C>A (p.Pro43His)
10g.79559387G>ACA5574213SFTPA2c.97C>T (p.Pro33Ser)
c.148C>T (p.Pro50Ser)
c.127C>T (p.Pro43Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559387G>CCA377354036SFTPA2c.97C>G (p.Pro33Ala)
c.148C>G (p.Pro50Ala)
c.127C>G (p.Pro43Ala)
10g.79559387G=CA1922245535SFTPA2c.97C= (p.Pro33=)
c.148C= (p.Pro50=)
c.127C= (p.Pro43=)
10g.79559387G>TCA377354038SFTPA2c.97C>A (p.Pro33Thr)
c.148C>A (p.Pro50Thr)
c.127C>A (p.Pro43Thr)
gnomAD v4
10g.79559388G>ACA470417541SFTPA2c.96C>T (p.Ile32=)
c.147C>T (p.Ile49=)
c.126C>T (p.Ile42=)
dbSNP gnomAD v3 gnomAD v4
10g.79559388G>CCA377354040SFTPA2c.96C>G (p.Ile32Met)
c.147C>G (p.Ile49Met)
c.126C>G (p.Ile42Met)
10g.79559388G=CA1922245536SFTPA2c.96C= (p.Ile32=)
c.147C= (p.Ile49=)
c.126C= (p.Ile42=)
10g.79559388G>TCA470417542SFTPA2c.96C>A (p.Ile32=)
c.147C>A (p.Ile49=)
c.126C>A (p.Ile42=)
dbSNP gnomAD v3 gnomAD v4
10g.79559389A=CA1922245537SFTPA2c.95T= (p.Ile32=)
c.146T= (p.Ile49=)
c.125T= (p.Ile42=)
10g.79559389A>CCA377354042SFTPA2c.95T>G (p.Ile32Ser)
c.146T>G (p.Ile49Ser)
c.125T>G (p.Ile42Ser)
10g.79559389A>GCA377354044SFTPA2c.95T>C (p.Ile32Thr)
c.146T>C (p.Ile49Thr)
c.125T>C (p.Ile42Thr)
10g.79559389A>TCA377354045SFTPA2c.95T>A (p.Ile32Asn)
c.146T>A (p.Ile49Asn)
c.125T>A (p.Ile42Asn)
dbSNP gnomAD v3 gnomAD v4
10g.79559390T>ACA5574214SFTPA2c.94A>T (p.Ile32Phe)
c.145A>T (p.Ile49Phe)
c.124A>T (p.Ile42Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559390T>CCA377354046SFTPA2c.94A>G (p.Ile32Val)
c.145A>G (p.Ile49Val)
c.124A>G (p.Ile42Val)
dbSNP
10g.79559390T>GCA377354049SFTPA2c.94A>C (p.Ile32Leu)
c.145A>C (p.Ile49Leu)
c.124A>C (p.Ile42Leu)
10g.79559390T=CA1922245538SFTPA2c.94A= (p.Ile32=)
c.145A= (p.Ile49=)
c.124A= (p.Ile42=)
10g.79559391A>CCA470417543SFTPA2c.93T>G (p.Gly31=)
c.144T>G (p.Gly48=)
c.123T>G (p.Gly41=)
10g.79559391A>GCA470417544SFTPA2c.93T>C (p.Gly31=)
c.144T>C (p.Gly48=)
c.123T>C (p.Gly41=)
10g.79559391A>TCA470417545SFTPA2c.93T>A (p.Gly31=)
c.144T>A (p.Gly48=)
c.123T>A (p.Gly41=)
10g.79559392C>ACA377354051SFTPA2c.92G>T (p.Gly31Val)
c.143G>T (p.Gly48Val)
c.122G>T (p.Gly41Val)
10g.79559392C>GCA377354053SFTPA2c.92G>C (p.Gly31Ala)
c.143G>C (p.Gly48Ala)
c.122G>C (p.Gly41Ala)
10g.79559392C>TCA377354055SFTPA2c.92G>A (p.Gly31Asp)
c.143G>A (p.Gly48Asp)
c.122G>A (p.Gly41Asp)
10g.79559393C>ACA377354057SFTPA2c.91G>T (p.Gly31Cys)
c.142G>T (p.Gly48Cys)
c.121G>T (p.Gly41Cys)
10g.79559393C>GCA377354059SFTPA2c.91G>C (p.Gly31Arg)
c.142G>C (p.Gly48Arg)
c.121G>C (p.Gly41Arg)
gnomAD v4
10g.79559393C>TCA377354061SFTPA2c.91G>A (p.Gly31Ser)
c.142G>A (p.Gly48Ser)
c.121G>A (p.Gly41Ser)
gnomAD v4
10g.79559394A>CCA470417546SFTPA2c.90T>G (p.Pro30=)
c.141T>G (p.Pro47=)
c.120T>G (p.Pro40=)
10g.79559394A>GCA470417547SFTPA2c.90T>C (p.Pro30=)
c.141T>C (p.Pro47=)
c.120T>C (p.Pro40=)
10g.79559394A>TCA470417548SFTPA2c.90T>A (p.Pro30=)
c.141T>A (p.Pro47=)
c.120T>A (p.Pro40=)
10g.79559395G>ACA377354063SFTPA2c.89C>T (p.Pro30Leu)
c.140C>T (p.Pro47Leu)
c.119C>T (p.Pro40Leu)
10g.79559395G>CCA377354064SFTPA2c.89C>G (p.Pro30Arg)
c.140C>G (p.Pro47Arg)
c.119C>G (p.Pro40Arg)
10g.79559395G>TCA377354065SFTPA2c.89C>A (p.Pro30His)
c.140C>A (p.Pro47His)
c.119C>A (p.Pro40His)
10g.79559396G>ACA377354067SFTPA2c.88C>T (p.Pro30Ser)
c.139C>T (p.Pro47Ser)
c.118C>T (p.Pro40Ser)
gnomAD v4
10g.79559396G>CCA377354069SFTPA2c.88C>G (p.Pro30Ala)
c.139C>G (p.Pro47Ala)
c.118C>G (p.Pro40Ala)
10g.79559396G>TCA377354071SFTPA2c.88C>A (p.Pro30Thr)
c.139C>A (p.Pro47Thr)
c.118C>A (p.Pro40Thr)
10g.79559397G>ACA470417549SFTPA2c.87C>T (p.Ser29=)
c.138C>T (p.Ser46=)
c.117C>T (p.Ser39=)
dbSNP gnomAD v4
10g.79559397G>CCA377354073SFTPA2c.87C>G (p.Ser29Arg)
c.138C>G (p.Ser46Arg)
c.117C>G (p.Ser39Arg)
10g.79559397G=CA1922245539SFTPA2c.87C= (p.Ser29=)
c.138C= (p.Ser46=)
c.117C= (p.Ser39=)
10g.79559397G>TCA377354074SFTPA2c.87C>A (p.Ser29Arg)
c.138C>A (p.Ser46Arg)
c.117C>A (p.Ser39Arg)
10g.79559398C>ACA377354075SFTPA2c.86G>T (p.Ser29Ile)
c.137G>T (p.Ser46Ile)
c.116G>T (p.Ser39Ile)
10g.79559398C>GCA377354077SFTPA2c.86G>C (p.Ser29Thr)
c.137G>C (p.Ser46Thr)
c.116G>C (p.Ser39Thr)
10g.79559398C>TCA377354079SFTPA2c.86G>A (p.Ser29Asn)
c.137G>A (p.Ser46Asn)
c.116G>A (p.Ser39Asn)
gnomAD v4
10g.79559399T>ACA377354081SFTPA2c.85A>T (p.Ser29Cys)
c.136A>T (p.Ser46Cys)
c.115A>T (p.Ser39Cys)
10g.79559399T>CCA210251207SFTPA2c.85A>G (p.Ser29Gly)
c.136A>G (p.Ser46Gly)
c.115A>G (p.Ser39Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79559399T>GCA377354083SFTPA2c.85A>C (p.Ser29Arg)
c.136A>C (p.Ser46Arg)
c.115A>C (p.Ser39Arg)
10g.79559399T=CA1922245540SFTPA2c.85A= (p.Ser29=)
c.136A= (p.Ser46=)
c.115A= (p.Ser39=)
10g.79559400T>ACA470417551SFTPA2c.84A>T (p.Gly28=)
c.135A>T (p.Gly45=)
c.114A>T (p.Gly38=)
10g.79559400T>CCA470417552SFTPA2c.84A>G (p.Gly28=)
c.135A>G (p.Gly45=)
c.114A>G (p.Gly38=)
10g.79559400T>GCA470417550SFTPA2c.84A>C (p.Gly28=)
c.135A>C (p.Gly45=)
c.114A>C (p.Gly38=)
10g.79559401C>ACA377354085SFTPA2c.83G>T (p.Gly28Val)
c.134G>T (p.Gly45Val)
c.113G>T (p.Gly38Val)
10g.79559401C>GCA377354086SFTPA2c.83G>C (p.Gly28Ala)
c.134G>C (p.Gly45Ala)
c.113G>C (p.Gly38Ala)
COSMIC
10g.79559401C>TCA377354088SFTPA2c.83G>A (p.Gly28Glu)
c.134G>A (p.Gly45Glu)
c.113G>A (p.Gly38Glu)
10g.79559402C>ACA377354090SFTPA2c.82G>T (p.Gly28Ter)
c.133G>T (p.Gly45Ter)
c.112G>T (p.Gly38Ter)
10g.79559402C>GCA377354092SFTPA2c.82G>C (p.Gly28Arg)
c.133G>C (p.Gly45Arg)
c.112G>C (p.Gly38Arg)
gnomAD v4
10g.79559402C>TCA377354094SFTPA2c.82G>A (p.Gly28Arg)
c.133G>A (p.Gly45Arg)
c.112G>A (p.Gly38Arg)
gnomAD v4 COSMIC
10g.79559404_79559419delCA2609869144SFTPA2c.67_82del (p.Lys23GlufsTer?)
c.118_133del (p.Lys40GlufsTer?)
c.97_112del (p.Lys33GlufsTer?)
gnomAD v4
10g.79559403A=CA1922245541SFTPA2c.81T= (p.Val27=)
c.132T= (p.Val44=)
c.111T= (p.Val37=)
10g.79559403A>CCA470417555SFTPA2c.81T>G (p.Val27=)
c.132T>G (p.Val44=)
c.111T>G (p.Val37=)
10g.79559403A>GCA470417553SFTPA2c.81T>C (p.Val27=)
c.132T>C (p.Val44=)
c.111T>C (p.Val37=)
dbSNP gnomAD v2 gnomAD v4
10g.79559403A>TCA470417554SFTPA2c.81T>A (p.Val27=)
c.132T>A (p.Val44=)
c.111T>A (p.Val37=)
10g.79559404A=CA1922245542SFTPA2c.80T= (p.Val27=)
c.131T= (p.Val44=)
c.110T= (p.Val37=)
10g.79559404A>CCA377354097SFTPA2c.80T>G (p.Val27Gly)
c.131T>G (p.Val44Gly)
c.110T>G (p.Val37Gly)
10g.79559404A>GCA377354100SFTPA2c.80T>C (p.Val27Ala)
c.131T>C (p.Val44Ala)
c.110T>C (p.Val37Ala)
dbSNP gnomAD v4
10g.79559404A>TCA377354095SFTPA2c.80T>A (p.Val27Asp)
c.131T>A (p.Val44Asp)
c.110T>A (p.Val37Asp)
10g.79559405C>ACA377354102SFTPA2c.79G>T (p.Val27Phe)
c.130G>T (p.Val44Phe)
c.109G>T (p.Val37Phe)
10g.79559405C=CA1922245543SFTPA2c.79G= (p.Val27=)
c.130G= (p.Val44=)
c.109G= (p.Val37=)
10g.79559405C>GCA377354105SFTPA2c.79G>C (p.Val27Leu)
c.130G>C (p.Val44Leu)
c.109G>C (p.Val37Leu)
10g.79559405C>TCA377354107SFTPA2c.79G>A (p.Val27Ile)
c.130G>A (p.Val44Ile)
c.109G>A (p.Val37Ile)
dbSNP gnomAD v3 gnomAD v4
10g.79559406A>CCA377354109SFTPA2c.78T>G (p.Cys26Trp)
c.129T>G (p.Cys43Trp)
c.108T>G (p.Cys36Trp)
10g.79559406A>GCA470417556SFTPA2c.78T>C (p.Cys26=)
c.129T>C (p.Cys43=)
c.108T>C (p.Cys36=)
10g.79559406A>TCA377354111SFTPA2c.78T>A (p.Cys26Ter)
c.129T>A (p.Cys43Ter)
c.108T>A (p.Cys36Ter)
10g.79559407C>ACA377354118SFTPA2c.77G>T (p.Cys26Phe)
c.128G>T (p.Cys43Phe)
c.107G>T (p.Cys36Phe)
10g.79559407C=CA1922245544SFTPA2c.77G= (p.Cys26=)
c.128G= (p.Cys43=)
c.107G= (p.Cys36=)
10g.79559407C>GCA210251215SFTPA2c.77G>C (p.Cys26Ser)
c.128G>C (p.Cys43Ser)
c.107G>C (p.Cys36Ser)
dbSNP gnomAD v2 gnomAD v4
10g.79559407C>TCA377354116SFTPA2c.77G>A (p.Cys26Tyr)
c.128G>A (p.Cys43Tyr)
c.107G>A (p.Cys36Tyr)
dbSNP
10g.79559408A>CCA377354121SFTPA2c.76T>G (p.Cys26Gly)
c.127T>G (p.Cys43Gly)
c.106T>G (p.Cys36Gly)
10g.79559408A>GCA377354123SFTPA2c.76T>C (p.Cys26Arg)
c.127T>C (p.Cys43Arg)
c.106T>C (p.Cys36Arg)
10g.79559408A>TCA377354126SFTPA2c.76T>A (p.Cys26Ser)
c.127T>A (p.Cys43Ser)
c.106T>A (p.Cys36Ser)
10g.79559409A>CCA470417557SFTPA2c.75T>G (p.Val25=)
c.126T>G (p.Val42=)
c.105T>G (p.Val35=)
10g.79559409A>GCA470417559SFTPA2c.75T>C (p.Val25=)
c.126T>C (p.Val42=)
c.105T>C (p.Val35=)
10g.79559409A>TCA470417558SFTPA2c.75T>A (p.Val25=)
c.126T>A (p.Val42=)
c.105T>A (p.Val35=)
10g.79559410A>CCA377354129SFTPA2c.74T>G (p.Val25Gly)
c.125T>G (p.Val42Gly)
c.104T>G (p.Val35Gly)
10g.79559410A>GCA377354131SFTPA2c.74T>C (p.Val25Ala)
c.125T>C (p.Val42Ala)
c.104T>C (p.Val35Ala)
10g.79559410A>TCA377354133SFTPA2c.74T>A (p.Val25Asp)
c.125T>A (p.Val42Asp)
c.104T>A (p.Val35Asp)
10g.79559411C>ACA377354136SFTPA2c.73G>T (p.Val25Phe)
c.124G>T (p.Val42Phe)
c.103G>T (p.Val35Phe)
10g.79559411C=CA1922245545SFTPA2c.73G= (p.Val25=)
c.124G= (p.Val42=)
c.103G= (p.Val35=)
10g.79559411C>GCA377354138SFTPA2c.73G>C (p.Val25Leu)
c.124G>C (p.Val42Leu)
c.103G>C (p.Val35Leu)
gnomAD v4
10g.79559411C>TCA5574215SFTPA2c.73G>A (p.Val25Ile)
c.124G>A (p.Val42Ile)
c.103G>A (p.Val35Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559412G>ACA5574216SFTPA2c.72C>T (p.Asp24=)
c.123C>T (p.Asp41=)
c.102C>T (p.Asp34=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559412G>CCA377354141SFTPA2c.72C>G (p.Asp24Glu)
c.123C>G (p.Asp41Glu)
c.102C>G (p.Asp34Glu)
dbSNP gnomAD v2 gnomAD v4
10g.79559412G=CA1922245546SFTPA2c.72C= (p.Asp24=)
c.123C= (p.Asp41=)
c.102C= (p.Asp34=)
10g.79559412G>TCA377354143SFTPA2c.72C>A (p.Asp24Glu)
c.123C>A (p.Asp41Glu)
c.102C>A (p.Asp34Glu)
dbSNP gnomAD v3 gnomAD v4
10g.79559413T>ACA377354146SFTPA2c.71A>T (p.Asp24Val)
c.122A>T (p.Asp41Val)
c.101A>T (p.Asp34Val)
10g.79559413T>CCA377354148SFTPA2c.71A>G (p.Asp24Gly)
c.122A>G (p.Asp41Gly)
c.101A>G (p.Asp34Gly)
10g.79559413T>GCA377354150SFTPA2c.71A>C (p.Asp24Ala)
c.122A>C (p.Asp41Ala)
c.101A>C (p.Asp34Ala)
10g.79559414C>ACA377354153SFTPA2c.70G>T (p.Asp24Tyr)
c.*1G>T (n.*1G>T)
c.121G>T (p.Asp41Tyr)
c.100G>T (p.Asp34Tyr)
10g.79559414C=CA1922245547SFTPA2c.70G= (p.Asp24=)
c.*1G= (n.*1G=)
c.121G= (p.Asp41=)
c.100G= (p.Asp34=)
10g.79559414C>GCA377354154SFTPA2c.70G>C (p.Asp24His)
c.*1G>C (n.*1G>C)
c.121G>C (p.Asp41His)
c.100G>C (p.Asp34His)
10g.79559414C>TCA210251246SFTPA2c.70G>A (p.Asp24Asn)
c.*1G>A (n.*1G>A)
c.121G>A (p.Asp41Asn)
c.100G>A (p.Asp34Asn)
dbSNP gnomAD v3 gnomAD v4
10g.79559415C>ACA377354159SFTPA2c.69G>T (p.Lys23Asn)
c.114G>T (p.Lys38Asn)
c.120G>T (p.Lys40Asn)
c.99G>T (p.Lys33Asn)
10g.79559415C=CA1922245549SFTPA2c.69G= (p.Lys23=)
c.114G= (p.Lys38=)
c.120G= (p.Lys40=)
c.99G= (p.Lys33=)
10g.79559415C>GCA377354162SFTPA2c.69G>C (p.Lys23Asn)
c.114G>C (p.Lys38Asn)
c.120G>C (p.Lys40Asn)
c.99G>C (p.Lys33Asn)
10g.79559415C>TCA5574218SFTPA2c.69G>A (p.Lys23=)
c.114G>A (p.Lys38=)
c.120G>A (p.Lys40=)
c.99G>A (p.Lys33=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79559415_79559416delinsCTCA1922245548SFTPA2c.68_69delinsAG (p.Lys23=)
c.113_114delinsAG (p.Lys38=)
c.119_120delinsAG (p.Lys40=)
c.98_99delinsAG (p.Lys33=)
10g.79559416T>ACA377354172SFTPA2c.68A>T (p.Lys23Met)
c.113A>T (p.Lys38Met)
c.119A>T (p.Lys40Met)
c.98A>T (p.Lys33Met)
10g.79559416T>CCA377354170SFTPA2c.68A>G (p.Lys23Arg)
c.113A>G (p.Lys38Arg)
c.119A>G (p.Lys40Arg)
c.98A>G (p.Lys33Arg)
10g.79559416T>GCA377354168SFTPA2c.68A>C (p.Lys23Thr)
c.113A>C (p.Lys38Thr)
c.119A>C (p.Lys40Thr)
c.98A>C (p.Lys33Thr)
10g.79559417delCA5574217SFTPA2c.68del (p.Lys23ArgfsTer?)
c.113del (p.Lys38ArgfsTer?)
c.119del (p.Lys40ArgfsTer?)
c.98del (p.Lys33ArgfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559417T>ACA377354180SFTPA2c.67A>T (p.Lys23Ter)
c.112A>T (p.Lys38Ter)
c.118A>T (p.Lys40Ter)
c.97A>T (p.Lys33Ter)
10g.79559417T>CCA377354183SFTPA2c.67A>G (p.Lys23Glu)
c.112A>G (p.Lys38Glu)
c.118A>G (p.Lys40Glu)
c.97A>G (p.Lys33Glu)
10g.79559417T>GCA377354186SFTPA2c.67A>C (p.Lys23Gln)
c.112A>C (p.Lys38Gln)
c.118A>C (p.Lys40Gln)
c.97A>C (p.Lys33Gln)
10g.79559418delCA2609869148SFTPA2c.66del (p.Lys23ArgfsTer?)
c.111del (p.Lys38ArgfsTer?)
c.117del (p.Lys40ArgfsTer?)
c.96del (p.Lys33ArgfsTer?)
gnomAD v4
10g.79559418C>ACA470417560SFTPA2c.66G>T (p.Val22=)
c.111G>T (p.Val37=)
c.117G>T (p.Val39=)
c.96G>T (p.Val32=)
10g.79559418C>GCA470417561SFTPA2c.66G>C (p.Val22=)
c.111G>C (p.Val37=)
c.117G>C (p.Val39=)
c.96G>C (p.Val32=)
10g.79559418C>TCA470417562SFTPA2c.66G>A (p.Val22=)
c.111G>A (p.Val37=)
c.117G>A (p.Val39=)
c.96G>A (p.Val32=)
gnomAD v4
10g.79559419A=CA1922245550SFTPA2c.65T= (p.Val22=)
c.110T= (p.Val37=)
c.116T= (p.Val39=)
c.95T= (p.Val32=)
10g.79559419A>CCA5574219SFTPA2c.65T>G (p.Val22Gly)
c.110T>G (p.Val37Gly)
c.116T>G (p.Val39Gly)
c.95T>G (p.Val32Gly)
dbSNP ExAC gnomAD v2
10g.79559419A>GCA5574220SFTPA2c.65T>C (p.Val22Ala)
c.110T>C (p.Val37Ala)
c.116T>C (p.Val39Ala)
c.95T>C (p.Val32Ala)
dbSNP ExAC gnomAD v2
10g.79559419A>TCA377354190SFTPA2c.65T>A (p.Val22Glu)
c.110T>A (p.Val37Glu)
c.116T>A (p.Val39Glu)
c.95T>A (p.Val32Glu)
dbSNP gnomAD v2 gnomAD v4
10g.79559420C>ACA377354194SFTPA2c.64G>T (p.Val22Leu)
c.109G>T (p.Val37Leu)
c.115G>T (p.Val39Leu)
c.94G>T (p.Val32Leu)
gnomAD v4
10g.79559420C>GCA377354196SFTPA2c.64G>C (p.Val22Leu)
c.109G>C (p.Val37Leu)
c.115G>C (p.Val39Leu)
c.94G>C (p.Val32Leu)
gnomAD v4
10g.79559420C>TCA377354199SFTPA2c.64G>A (p.Val22Met)
c.109G>A (p.Val37Met)
c.115G>A (p.Val39Met)
c.94G>A (p.Val32Met)
10g.79559421T>ACA377354201SFTPA2c.63A>T (p.Glu21Asp)
c.108A>T (p.Glu36Asp)
c.114A>T (p.Glu38Asp)
c.93A>T (p.Glu31Asp)
gnomAD v4
10g.79559421T>CCA470417563SFTPA2c.63A>G (p.Glu21=)
c.108A>G (p.Glu36=)
c.114A>G (p.Glu38=)
c.93A>G (p.Glu31=)
10g.79559421T>GCA377354203SFTPA2c.63A>C (p.Glu21Asp)
c.108A>C (p.Glu36Asp)
c.114A>C (p.Glu38Asp)
c.93A>C (p.Glu31Asp)
dbSNP gnomAD v3 gnomAD v4
10g.79559421T=CA1922245551SFTPA2c.63A= (p.Glu21=)
c.108A= (p.Glu36=)
c.114A= (p.Glu38=)
c.93A= (p.Glu31=)
10g.79559422T>ACA377354207SFTPA2c.62A>T (p.Glu21Val)
c.107A>T (p.Glu36Val)
c.113A>T (p.Glu38Val)
c.92A>T (p.Glu31Val)
10g.79559422T>CCA377354208SFTPA2c.62A>G (p.Glu21Gly)
c.107A>G (p.Glu36Gly)
c.113A>G (p.Glu38Gly)
c.92A>G (p.Glu31Gly)
10g.79559422T>GCA377354211SFTPA2c.62A>C (p.Glu21Ala)
c.107A>C (p.Glu36Ala)
c.113A>C (p.Glu38Ala)
c.92A>C (p.Glu31Ala)
10g.79559423C>ACA377354216SFTPA2c.61G>T (p.Glu21Ter)
c.106G>T (p.Glu36Ter)
c.112G>T (p.Glu38Ter)
c.91G>T (p.Glu31Ter)
gnomAD v3 gnomAD v4
10g.79559423C=CA1922245552SFTPA2c.61G= (p.Glu21=)
c.106G= (p.Glu36=)
c.112G= (p.Glu38=)
c.91G= (p.Glu31=)
10g.79559423C>GCA377354215SFTPA2c.61G>C (p.Glu21Gln)
c.106G>C (p.Glu36Gln)
c.112G>C (p.Glu38Gln)
c.91G>C (p.Glu31Gln)
gnomAD v4
10g.79559423C>TCA5574221SFTPA2c.61G>A (p.Glu21Lys)
c.106G>A (p.Glu36Lys)
c.112G>A (p.Glu38Lys)
c.91G>A (p.Glu31Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79559424G>ACA5574222SFTPA2c.60C>T (p.Cys20=)
c.105C>T (p.Cys35=)
c.111C>T (p.Cys37=)
c.90C>T (p.Cys30=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559424G>CCA377354222SFTPA2c.60C>G (p.Cys20Trp)
c.105C>G (p.Cys35Trp)
c.111C>G (p.Cys37Trp)
c.90C>G (p.Cys30Trp)
dbSNP gnomAD v3 gnomAD v4
10g.79559424G=CA1922245553SFTPA2c.60C= (p.Cys20=)
c.105C= (p.Cys35=)
c.111C= (p.Cys37=)
c.90C= (p.Cys30=)
10g.79559424G>TCA377354224SFTPA2c.60C>A (p.Cys20Ter)
c.105C>A (p.Cys35Ter)
c.111C>A (p.Cys37Ter)
c.90C>A (p.Cys30Ter)
gnomAD v4
10g.79559425C>ACA377354228SFTPA2c.59G>T (p.Cys20Phe)
c.104G>T (p.Cys35Phe)
c.110G>T (p.Cys37Phe)
c.89G>T (p.Cys30Phe)
10g.79559425C=CA1922245554SFTPA2c.59G= (p.Cys20=)
c.104G= (p.Cys35=)
c.110G= (p.Cys37=)
c.89G= (p.Cys30=)
10g.79559425C>GCA377354230SFTPA2c.59G>C (p.Cys20Ser)
c.104G>C (p.Cys35Ser)
c.110G>C (p.Cys37Ser)
c.89G>C (p.Cys30Ser)
10g.79559425C>TCA5574223SFTPA2c.59G>A (p.Cys20Tyr)
c.104G>A (p.Cys35Tyr)
c.110G>A (p.Cys37Tyr)
c.89G>A (p.Cys30Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79559426A>CCA377354243SFTPA2c.58T>G (p.Cys20Gly)
c.103T>G (p.Cys35Gly)
c.109T>G (p.Cys37Gly)
c.88T>G (p.Cys30Gly)
10g.79559426A>GCA377354236SFTPA2c.58T>C (p.Cys20Arg)
c.103T>C (p.Cys35Arg)
c.109T>C (p.Cys37Arg)
c.88T>C (p.Cys30Arg)
10g.79559426A>TCA377354241SFTPA2c.58T>A (p.Cys20Ser)
c.103T>A (p.Cys35Ser)
c.109T>A (p.Cys37Ser)
c.88T>A (p.Cys30Ser)
10g.79559427C>ACA470417564SFTPA2c.57G>T (p.Ala19=)
c.102G>T (p.Ala34=)
c.108G>T (p.Ala36=)
c.87G>T (p.Ala29=)
10g.79559427C=CA1922245555SFTPA2c.57G= (p.Ala19=)
c.102G= (p.Ala34=)
c.108G= (p.Ala36=)
c.87G= (p.Ala29=)
10g.79559427C>GCA5574224SFTPA2c.57G>C (p.Ala19=)
c.102G>C (p.Ala34=)
c.108G>C (p.Ala36=)
c.87G>C (p.Ala29=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559427C>TCA5574225SFTPA2c.57G>A (p.Ala19=)
c.102G>A (p.Ala34=)
c.108G>A (p.Ala36=)
c.87G>A (p.Ala29=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559428G>ACA5574226SFTPA2c.56C>T (p.Ala19Val)
c.101C>T (p.Ala34Val)
c.107C>T (p.Ala36Val)
c.86C>T (p.Ala29Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.79559428G>CCA377354254SFTPA2c.56C>G (p.Ala19Gly)
c.101C>G (p.Ala34Gly)
c.107C>G (p.Ala36Gly)
c.86C>G (p.Ala29Gly)
10g.79559428G=CA1922245556SFTPA2c.56C= (p.Ala19=)
c.101C= (p.Ala34=)
c.107C= (p.Ala36=)
c.86C= (p.Ala29=)
10g.79559428G>TCA377354257SFTPA2c.56C>A (p.Ala19Glu)
c.101C>A (p.Ala34Glu)
c.107C>A (p.Ala36Glu)
c.86C>A (p.Ala29Glu)
10g.79559431_79559433delCA2609869151SFTPA2c.54_56del (p.Ala19del)
c.99_101del (p.Ala34del)
c.105_107del (p.Ala36del)
c.84_86del (p.Ala29del)
gnomAD v4
10g.79559429C>ACA377354266SFTPA2c.55G>T (p.Ala19Ser)
c.100G>T (p.Ala34Ser)
c.106G>T (p.Ala36Ser)
c.85G>T (p.Ala29Ser)
10g.79559429C=CA1922245557SFTPA2c.55G= (p.Ala19=)
c.100G= (p.Ala34=)
c.106G= (p.Ala36=)
c.85G= (p.Ala29=)
10g.79559429C>GCA377354261SFTPA2c.55G>C (p.Ala19Pro)
c.100G>C (p.Ala34Pro)
c.106G>C (p.Ala36Pro)
c.85G>C (p.Ala29Pro)
dbSNP
10g.79559429C>TCA377354264SFTPA2c.55G>A (p.Ala19Thr)
c.100G>A (p.Ala34Thr)
c.106G>A (p.Ala36Thr)
c.85G>A (p.Ala29Thr)
gnomAD v4 COSMIC
10g.79559430A>CCA470417567SFTPA2c.54T>G (p.Ala18=)
c.99T>G (p.Ala33=)
c.105T>G (p.Ala35=)
c.84T>G (p.Ala28=)
10g.79559430A>GCA470417566SFTPA2c.54T>C (p.Ala18=)
c.99T>C (p.Ala33=)
c.105T>C (p.Ala35=)
c.84T>C (p.Ala28=)
10g.79559430A>TCA470417565SFTPA2c.54T>A (p.Ala18=)
c.99T>A (p.Ala33=)
c.105T>A (p.Ala35=)
c.84T>A (p.Ala28=)
10g.79559431G>ACA377354268SFTPA2c.53C>T (p.Ala18Val)
c.98C>T (p.Ala33Val)
c.104C>T (p.Ala35Val)
c.83C>T (p.Ala28Val)
dbSNP gnomAD v2 gnomAD v4
10g.79559431G>CCA377354270SFTPA2c.53C>G (p.Ala18Gly)
c.98C>G (p.Ala33Gly)
c.104C>G (p.Ala35Gly)
c.83C>G (p.Ala28Gly)
10g.79559431G=CA1922245558SFTPA2c.53C= (p.Ala18=)
c.98C= (p.Ala33=)
c.104C= (p.Ala35=)
c.83C= (p.Ala28=)
10g.79559431G>TCA377354272SFTPA2c.53C>A (p.Ala18Asp)
c.98C>A (p.Ala33Asp)
c.104C>A (p.Ala35Asp)
c.83C>A (p.Ala28Asp)
10g.79559432C>ACA377354276SFTPA2c.52G>T (p.Ala18Ser)
c.97G>T (p.Ala33Ser)
c.103G>T (p.Ala35Ser)
c.82G>T (p.Ala28Ser)
dbSNP gnomAD v2 gnomAD v4
10g.79559432C=CA1922245559SFTPA2c.52G= (p.Ala18=)
c.97G= (p.Ala33=)
c.103G= (p.Ala35=)
c.82G= (p.Ala28=)
10g.79559432C>GCA377354277SFTPA2c.52G>C (p.Ala18Pro)
c.97G>C (p.Ala33Pro)
c.103G>C (p.Ala35Pro)
c.82G>C (p.Ala28Pro)
10g.79559432C>TCA377354279SFTPA2c.52G>A (p.Ala18Thr)
c.97G>A (p.Ala33Thr)
c.103G>A (p.Ala35Thr)
c.82G>A (p.Ala28Thr)
dbSNP gnomAD v2 gnomAD v4
10g.79559433A=CA1922245560SFTPA2c.51T= (p.Gly17=)
c.96T= (p.Gly32=)
c.102T= (p.Gly34=)
c.81T= (p.Gly27=)
10g.79559433A>CCA470417570SFTPA2c.51T>G (p.Gly17=)
c.96T>G (p.Gly32=)
c.102T>G (p.Gly34=)
c.81T>G (p.Gly27=)
10g.79559433A>GCA470417569SFTPA2c.51T>C (p.Gly17=)
c.96T>C (p.Gly32=)
c.102T>C (p.Gly34=)
c.81T>C (p.Gly27=)
dbSNP
10g.79559433A>TCA470417568SFTPA2c.51T>A (p.Gly17=)
c.96T>A (p.Gly32=)
c.102T>A (p.Gly34=)
c.81T>A (p.Gly27=)
10g.79559434C>ACA377354281SFTPA2c.50G>T (p.Gly17Val)
c.95G>T (p.Gly32Val)
c.101G>T (p.Gly34Val)
c.80G>T (p.Gly27Val)
10g.79559434C>GCA377354284SFTPA2c.50G>C (p.Gly17Ala)
c.95G>C (p.Gly32Ala)
c.101G>C (p.Gly34Ala)
c.80G>C (p.Gly27Ala)
10g.79559434C>TCA377354285SFTPA2c.50G>A (p.Gly17Asp)
c.95G>A (p.Gly32Asp)
c.101G>A (p.Gly34Asp)
c.80G>A (p.Gly27Asp)
10g.79559435C>ACA377354289SFTPA2c.49G>T (p.Gly17Cys)
c.94G>T (p.Gly32Cys)
c.100G>T (p.Gly34Cys)
c.79G>T (p.Gly27Cys)
dbSNP gnomAD v3 gnomAD v4
10g.79559435C=CA1922245561SFTPA2c.49G= (p.Gly17=)
c.94G= (p.Gly32=)
c.100G= (p.Gly34=)
c.79G= (p.Gly27=)
10g.79559435C>GCA377354292SFTPA2c.49G>C (p.Gly17Arg)
c.94G>C (p.Gly32Arg)
c.100G>C (p.Gly34Arg)
c.79G>C (p.Gly27Arg)
10g.79559435C>TCA377354293SFTPA2c.49G>A (p.Gly17Ser)
c.94G>A (p.Gly32Ser)
c.100G>A (p.Gly34Ser)
c.79G>A (p.Gly27Ser)
10g.79559436A=CA1922245562SFTPA2c.48T= (p.Ser16=)
c.93T= (p.Ser31=)
c.99T= (p.Ser33=)
c.78T= (p.Ser26=)
10g.79559436A>CCA470417571SFTPA2c.48T>G (p.Ser16=)
c.93T>G (p.Ser31=)
c.99T>G (p.Ser33=)
c.78T>G (p.Ser26=)
10g.79559436A>GCA470417572SFTPA2c.48T>C (p.Ser16=)
c.93T>C (p.Ser31=)
c.99T>C (p.Ser33=)
c.78T>C (p.Ser26=)
10g.79559436A>TCA210251298SFTPA2c.48T>A (p.Ser16=)
c.93T>A (p.Ser31=)
c.99T>A (p.Ser33=)
c.78T>A (p.Ser26=)
dbSNP gnomAD v4
10g.79559437G>ACA377354303SFTPA2c.47C>T (p.Ser16Phe)
c.92C>T (p.Ser31Phe)
c.98C>T (p.Ser33Phe)
c.77C>T (p.Ser26Phe)
10g.79559437G>CCA377354296SFTPA2c.47C>G (p.Ser16Cys)
c.92C>G (p.Ser31Cys)
c.98C>G (p.Ser33Cys)
c.77C>G (p.Ser26Cys)
10g.79559437G>TCA377354302SFTPA2c.47C>A (p.Ser16Tyr)
c.92C>A (p.Ser31Tyr)
c.98C>A (p.Ser33Tyr)
c.77C>A (p.Ser26Tyr)
10g.79559438A>CCA377354305SFTPA2c.46T>G (p.Ser16Ala)
c.91T>G (p.Ser31Ala)
c.97T>G (p.Ser33Ala)
c.76T>G (p.Ser26Ala)
10g.79559438A>GCA377354309SFTPA2c.46T>C (p.Ser16Pro)
c.91T>C (p.Ser31Pro)
c.97T>C (p.Ser33Pro)
c.76T>C (p.Ser26Pro)
10g.79559438A>TCA377354307SFTPA2c.46T>A (p.Ser16Thr)
c.91T>A (p.Ser31Thr)
c.97T>A (p.Ser33Thr)
c.76T>A (p.Ser26Thr)
10g.79559439G>ACA5574227SFTPA2c.45C>T (p.Ala15=)
c.90C>T (p.Ala30=)
c.96C>T (p.Ala32=)
c.75C>T (p.Ala25=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559439G>CCA470417573SFTPA2c.45C>G (p.Ala15=)
c.90C>G (p.Ala30=)
c.96C>G (p.Ala32=)
c.75C>G (p.Ala25=)
10g.79559439G=CA1922245563SFTPA2c.45C= (p.Ala15=)
c.90C= (p.Ala30=)
c.96C= (p.Ala32=)
c.75C= (p.Ala25=)
10g.79559439G>TCA470417574SFTPA2c.45C>A (p.Ala15=)
c.90C>A (p.Ala30=)
c.96C>A (p.Ala32=)
c.75C>A (p.Ala25=)
10g.79559440G>ACA377354311SFTPA2c.44C>T (p.Ala15Val)
c.89C>T (p.Ala30Val)
c.95C>T (p.Ala32Val)
c.74C>T (p.Ala25Val)
10g.79559440G>CCA5574229SFTPA2c.44C>G (p.Ala15Gly)
c.89C>G (p.Ala30Gly)
c.95C>G (p.Ala32Gly)
c.74C>G (p.Ala25Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79559440G=CA1922245564SFTPA2c.44C= (p.Ala15=)
c.89C= (p.Ala30=)
c.95C= (p.Ala32=)
c.74C= (p.Ala25=)
10g.79559440G>TCA5574228SFTPA2c.44C>A (p.Ala15Asp)
c.89C>A (p.Ala30Asp)
c.95C>A (p.Ala32Asp)
c.74C>A (p.Ala25Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559441C>ACA377354315SFTPA2c.43G>T (p.Ala15Ser)
c.88G>T (p.Ala30Ser)
c.94G>T (p.Ala32Ser)
c.73G>T (p.Ala25Ser)
10g.79559441C=CA1922245565SFTPA2c.43G= (p.Ala15=)
c.88G= (p.Ala30=)
c.94G= (p.Ala32=)
c.73G= (p.Ala25=)
10g.79559441C>GCA377354318SFTPA2c.43G>C (p.Ala15Pro)
c.88G>C (p.Ala30Pro)
c.94G>C (p.Ala32Pro)
c.73G>C (p.Ala25Pro)
10g.79559441C>TCA377354320SFTPA2c.43G>A (p.Ala15Thr)
c.88G>A (p.Ala30Thr)
c.94G>A (p.Ala32Thr)
c.73G>A (p.Ala25Thr)
dbSNP gnomAD v4
10g.79559442T>ACA470417575SFTPA2c.42A>T (p.Ala14=)
c.87A>T (p.Ala29=)
c.93A>T (p.Ala31=)
c.72A>T (p.Ala24=)
10g.79559442T>CCA470417576SFTPA2c.42A>G (p.Ala14=)
c.87A>G (p.Ala29=)
c.93A>G (p.Ala31=)
c.72A>G (p.Ala24=)
10g.79559442T>GCA470417577SFTPA2c.42A>C (p.Ala14=)
c.87A>C (p.Ala29=)
c.93A>C (p.Ala31=)
c.72A>C (p.Ala24=)
10g.79559443G>ACA377354323SFTPA2c.41C>T (p.Ala14Val)
c.86C>T (p.Ala29Val)
c.92C>T (p.Ala31Val)
c.71C>T (p.Ala24Val)
10g.79559443G>CCA377354329SFTPA2c.41C>G (p.Ala14Gly)
c.86C>G (p.Ala29Gly)
c.92C>G (p.Ala31Gly)
c.71C>G (p.Ala24Gly)
10g.79559443G=CA1922245566SFTPA2c.41C= (p.Ala14=)
c.86C= (p.Ala29=)
c.92C= (p.Ala31=)
c.71C= (p.Ala24=)
10g.79559443G>TCA377354331SFTPA2c.41C>A (p.Ala14Glu)
c.86C>A (p.Ala29Glu)
c.92C>A (p.Ala31Glu)
c.71C>A (p.Ala24Glu)
dbSNP
10g.79559444C>ACA377354332SFTPA2c.40G>T (p.Ala14Ser)
c.85G>T (p.Ala29Ser)
c.91G>T (p.Ala31Ser)
c.70G>T (p.Ala24Ser)
gnomAD v4
10g.79559444C>GCA377354334SFTPA2c.40G>C (p.Ala14Pro)
c.85G>C (p.Ala29Pro)
c.91G>C (p.Ala31Pro)
c.70G>C (p.Ala24Pro)
10g.79559444C>TCA377354335SFTPA2c.40G>A (p.Ala14Thr)
c.85G>A (p.Ala29Thr)
c.91G>A (p.Ala31Thr)
c.70G>A (p.Ala24Thr)
10g.79559445C>ACA377354336SFTPA2c.39G>T (p.Met13Ile)
c.84G>T (p.Met28Ile)
c.90G>T (p.Met30Ile)
c.69G>T (p.Met23Ile)
10g.79559445C=CA1922245567SFTPA2c.39G= (p.Met13=)
c.84G= (p.Met28=)
c.90G= (p.Met30=)
c.69G= (p.Met23=)
10g.79559445C>GCA377354339SFTPA2c.39G>C (p.Met13Ile)
c.84G>C (p.Met28Ile)
c.90G>C (p.Met30Ile)
c.69G>C (p.Met23Ile)
10g.79559445C>TCA377354337SFTPA2c.39G>A (p.Met13Ile)
c.84G>A (p.Met28Ile)
c.90G>A (p.Met30Ile)
c.69G>A (p.Met23Ile)
dbSNP gnomAD v2 gnomAD v4
10g.79559446A>CCA377354341SFTPA2c.38T>G (p.Met13Arg)
c.83T>G (p.Met28Arg)
c.89T>G (p.Met30Arg)
c.68T>G (p.Met23Arg)
10g.79559446A>GCA377354343SFTPA2c.38T>C (p.Met13Thr)
c.83T>C (p.Met28Thr)
c.89T>C (p.Met30Thr)
c.68T>C (p.Met23Thr)
gnomAD v4
10g.79559446A>TCA377354346SFTPA2c.38T>A (p.Met13Lys)
c.83T>A (p.Met28Lys)
c.89T>A (p.Met30Lys)
c.68T>A (p.Met23Lys)
10g.79559447T>ACA377354349SFTPA2c.37A>T (p.Met13Leu)
c.82A>T (p.Met28Leu)
c.88A>T (p.Met30Leu)
c.67A>T (p.Met23Leu)
10g.79559447T>CCA377354350SFTPA2c.37A>G (p.Met13Val)
c.82A>G (p.Met28Val)
c.88A>G (p.Met30Val)
c.67A>G (p.Met23Val)
gnomAD v4
10g.79559447T>GCA377354353SFTPA2c.37A>C (p.Met13Leu)
c.82A>C (p.Met28Leu)
c.88A>C (p.Met30Leu)
c.67A>C (p.Met23Leu)
gnomAD v4
10g.79559448C>ACA377354356SFTPA2c.36G>T (p.Leu12Phe)
c.81G>T (p.Leu27Phe)
c.87G>T (p.Leu29Phe)
c.66G>T (p.Leu22Phe)
10g.79559448C>GCA377354358SFTPA2c.36G>C (p.Leu12Phe)
c.81G>C (p.Leu27Phe)
c.87G>C (p.Leu29Phe)
c.66G>C (p.Leu22Phe)
10g.79559448C>TCA470417678SFTPA2c.36G>A (p.Leu12=)
c.81G>A (p.Leu27=)
c.87G>A (p.Leu29=)
c.66G>A (p.Leu22=)
COSMIC
10g.79559449A=CA1922245568SFTPA2c.35T= (p.Leu12=)
c.80T= (p.Leu27=)
c.86T= (p.Leu29=)
c.65T= (p.Leu22=)
10g.79559449A>CCA210251306SFTPA2c.35T>G (p.Leu12Trp)
c.80T>G (p.Leu27Trp)
c.86T>G (p.Leu29Trp)
c.65T>G (p.Leu22Trp)
dbSNP gnomAD v3 gnomAD v4
10g.79559449A>GCA377354361SFTPA2c.35T>C (p.Leu12Ser)
c.80T>C (p.Leu27Ser)
c.86T>C (p.Leu29Ser)
c.65T>C (p.Leu22Ser)
gnomAD v4
10g.79559449A>TCA377354364SFTPA2c.35T>A (p.Leu12Ter)
c.80T>A (p.Leu27Ter)
c.86T>A (p.Leu29Ter)
c.65T>A (p.Leu22Ter)
10g.79559450A=CA1922245569SFTPA2c.34T= (p.Leu12=)
c.79T= (p.Leu27=)
c.85T= (p.Leu29=)
c.64T= (p.Leu22=)
10g.79559450A>CCA377354369SFTPA2c.34T>G (p.Leu12Val)
c.79T>G (p.Leu27Val)
c.85T>G (p.Leu29Val)
c.64T>G (p.Leu22Val)
10g.79559450A>GCA470417680SFTPA2c.34T>C (p.Leu12=)
c.79T>C (p.Leu27=)
c.85T>C (p.Leu29=)
c.64T>C (p.Leu22=)
dbSNP gnomAD v2 gnomAD v4
10g.79559450A>TCA377354366SFTPA2c.34T>A (p.Leu12Met)
c.79T>A (p.Leu27Met)
c.85T>A (p.Leu29Met)
c.64T>A (p.Leu22Met)
10g.79559451G>ACA470417682SFTPA2c.33C>T (p.Ile11=)
c.78C>T (p.Ile26=)
c.84C>T (p.Ile28=)
c.63C>T (p.Ile21=)
10g.79559451G>CCA377354371SFTPA2c.33C>G (p.Ile11Met)
c.78C>G (p.Ile26Met)
c.84C>G (p.Ile28Met)
c.63C>G (p.Ile21Met)
10g.79559451G>TCA470417684SFTPA2c.33C>A (p.Ile11=)
c.78C>A (p.Ile26=)
c.84C>A (p.Ile28=)
c.63C>A (p.Ile21=)
10g.79559452A>CCA377354374SFTPA2c.32T>G (p.Ile11Ser)
c.77T>G (p.Ile26Ser)
c.83T>G (p.Ile28Ser)
c.62T>G (p.Ile21Ser)
10g.79559452A>GCA377354375SFTPA2c.32T>C (p.Ile11Thr)
c.77T>C (p.Ile26Thr)
c.83T>C (p.Ile28Thr)
c.62T>C (p.Ile21Thr)
10g.79559452A>TCA377354379SFTPA2c.32T>A (p.Ile11Asn)
c.77T>A (p.Ile26Asn)
c.83T>A (p.Ile28Asn)
c.62T>A (p.Ile21Asn)
10g.79559453T>ACA377354381SFTPA2c.31A>T (p.Ile11Phe)
c.76A>T (p.Ile26Phe)
c.82A>T (p.Ile28Phe)
c.61A>T (p.Ile21Phe)
10g.79559453T>CCA377354384SFTPA2c.31A>G (p.Ile11Val)
c.76A>G (p.Ile26Val)
c.82A>G (p.Ile28Val)
c.61A>G (p.Ile21Val)
dbSNP gnomAD v2 gnomAD v4
10g.79559453T>GCA377354385SFTPA2c.31A>C (p.Ile11Leu)
c.76A>C (p.Ile26Leu)
c.82A>C (p.Ile28Leu)
c.61A>C (p.Ile21Leu)
10g.79559453T=CA1922245570SFTPA2c.31A= (p.Ile11=)
c.76A= (p.Ile26=)
c.82A= (p.Ile28=)
c.61A= (p.Ile21=)
10g.79559454G>ACA470417695SFTPA2c.30C>T (p.Leu10=)
c.75C>T (p.Leu25=)
c.81C>T (p.Leu27=)
c.60C>T (p.Leu20=)
gnomAD v4
10g.79559454G>CCA470417698SFTPA2c.30C>G (p.Leu10=)
c.75C>G (p.Leu25=)
c.81C>G (p.Leu27=)
c.60C>G (p.Leu20=)
10g.79559454G>TCA470417700SFTPA2c.30C>A (p.Leu10=)
c.75C>A (p.Leu25=)
c.81C>A (p.Leu27=)
c.60C>A (p.Leu20=)
10g.79559455A=CA1922245571SFTPA2c.29T= (p.Leu10=)
c.74T= (p.Leu25=)
c.80T= (p.Leu27=)
c.59T= (p.Leu20=)
10g.79559455A>CCA377354388SFTPA2c.29T>G (p.Leu10Arg)
c.74T>G (p.Leu25Arg)
c.80T>G (p.Leu27Arg)
c.59T>G (p.Leu20Arg)
dbSNP gnomAD v2 gnomAD v4
10g.79559455A>GCA377354391SFTPA2c.29T>C (p.Leu10Pro)
c.74T>C (p.Leu25Pro)
c.80T>C (p.Leu27Pro)
c.59T>C (p.Leu20Pro)
10g.79559455A>TCA377354392SFTPA2c.29T>A (p.Leu10His)
c.74T>A (p.Leu25His)
c.80T>A (p.Leu27His)
c.59T>A (p.Leu20His)
10g.79559456G>ACA5574230SFTPA2c.28C>T (p.Leu10Phe)
c.73C>T (p.Leu25Phe)
c.79C>T (p.Leu27Phe)
c.58C>T (p.Leu20Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.79559456G>CCA377354395SFTPA2c.28C>G (p.Leu10Val)
c.73C>G (p.Leu25Val)
c.79C>G (p.Leu27Val)
c.58C>G (p.Leu20Val)
dbSNP
10g.79559456G=CA1922245572SFTPA2c.28C= (p.Leu10=)
c.73C= (p.Leu25=)
c.79C= (p.Leu27=)
c.58C= (p.Leu20=)
10g.79559456G>TCA377354398SFTPA2c.28C>A (p.Leu10Ile)
c.73C>A (p.Leu25Ile)
c.79C>A (p.Leu27Ile)
c.58C>A (p.Leu20Ile)
gnomAD v4
10g.79559458delCA2609869156SFTPA2c.28del (p.Leu10SerfsTer3)
c.73del (p.Leu25SerfsTer3)
c.79del (p.Leu27SerfsTer3)
c.58del (p.Leu20SerfsTer3)
gnomAD v4
10g.79559457G>ACA470417714SFTPA2c.27C>T (p.Thr9=)
c.72C>T (p.Thr24=)
c.78C>T (p.Thr26=)
c.57C>T (p.Thr19=)
COSMIC
10g.79559457G>CCA470417716SFTPA2c.27C>G (p.Thr9=)
c.72C>G (p.Thr24=)
c.78C>G (p.Thr26=)
c.57C>G (p.Thr19=)
10g.79559457G>TCA470417718SFTPA2c.27C>A (p.Thr9=)
c.72C>A (p.Thr24=)
c.78C>A (p.Thr26=)
c.57C>A (p.Thr19=)
10g.79559458G>ACA377354402SFTPA2c.26C>T (p.Thr9Ile)
c.71C>T (p.Thr24Ile)
c.77C>T (p.Thr26Ile)
c.56C>T (p.Thr19Ile)
gnomAD v4
10g.79559458G>CCA5574232SFTPA2c.26C>G (p.Thr9Ser)
c.71C>G (p.Thr24Ser)
c.77C>G (p.Thr26Ser)
c.56C>G (p.Thr19Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559458G=CA1922245573SFTPA2c.26C= (p.Thr9=)
c.71C= (p.Thr24=)
c.77C= (p.Thr26=)
c.56C= (p.Thr19=)
10g.79559458G>TCA5574231SFTPA2c.26C>A (p.Thr9Asn)
c.71C>A (p.Thr24Asn)
c.77C>A (p.Thr26Asn)
c.56C>A (p.Thr19Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79559459T>ACA377354408SFTPA2c.25A>T (p.Thr9Ser)
c.70A>T (p.Thr24Ser)
c.76A>T (p.Thr26Ser)
c.55A>T (p.Thr19Ser)
10g.79559459T>CCA377354410SFTPA2c.25A>G (p.Thr9Ala)
c.70A>G (p.Thr24Ala)
c.76A>G (p.Thr26Ala)
c.55A>G (p.Thr19Ala)
10g.79559459T>GCA377354412SFTPA2c.25A>C (p.Thr9Pro)
c.70A>C (p.Thr24Pro)
c.76A>C (p.Thr26Pro)
c.55A>C (p.Thr19Pro)
10g.79559460G>ACA470417730SFTPA2c.24C>T (p.Leu8=)
c.69C>T (p.Leu23=)
c.75C>T (p.Leu25=)
c.54C>T (p.Leu18=)
10g.79559460G>CCA470417732SFTPA2c.24C>G (p.Leu8=)
c.69C>G (p.Leu23=)
c.75C>G (p.Leu25=)
c.54C>G (p.Leu18=)
10g.79559460G>TCA470417734SFTPA2c.24C>A (p.Leu8=)
c.69C>A (p.Leu23=)
c.75C>A (p.Leu25=)
c.54C>A (p.Leu18=)
10g.79559461A>CCA377354415SFTPA2c.23T>G (p.Leu8Arg)
c.68T>G (p.Leu23Arg)
c.74T>G (p.Leu25Arg)
c.53T>G (p.Leu18Arg)
10g.79559461A>GCA377354417SFTPA2c.23T>C (p.Leu8Pro)
c.68T>C (p.Leu23Pro)
c.74T>C (p.Leu25Pro)
c.53T>C (p.Leu18Pro)
10g.79559461A>TCA377354425SFTPA2c.23T>A (p.Leu8His)
c.68T>A (p.Leu23His)
c.74T>A (p.Leu25His)
c.53T>A (p.Leu18His)
10g.79559462G>ACA377354426SFTPA2c.22C>T (p.Leu8Phe)
c.67C>T (p.Leu23Phe)
c.73C>T (p.Leu25Phe)
c.52C>T (p.Leu18Phe)
10g.79559462G>CCA377354427SFTPA2c.22C>G (p.Leu8Val)
c.67C>G (p.Leu23Val)
c.73C>G (p.Leu25Val)
c.52C>G (p.Leu18Val)
10g.79559462G>TCA377354429SFTPA2c.22C>A (p.Leu8Ile)
c.67C>A (p.Leu23Ile)
c.73C>A (p.Leu25Ile)
c.52C>A (p.Leu18Ile)

Number of alleles fetched