Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79559361_79559370del | CA2574596585 | SFTPA2 | c.117_126del (p.His39GlnfsTer?) c.168_177del (p.His56GlnfsTer?) c.147_156del (p.His49GlnfsTer?) | |
10 | g.79559362A>C | CA377353967 | SFTPA2 | c.122T>G (p.Leu41Arg) c.173T>G (p.Leu58Arg) c.152T>G (p.Leu51Arg) | gnomAD v4 |
10 | g.79559362A>G | CA377353965 | SFTPA2 | c.122T>C (p.Leu41Pro) c.173T>C (p.Leu58Pro) c.152T>C (p.Leu51Pro) | |
10 | g.79559362A>T | CA377353966 | SFTPA2 | c.122T>A (p.Leu41Gln) c.173T>A (p.Leu58Gln) c.152T>A (p.Leu51Gln) | COSMIC |
10 | g.79559363G>A | CA470417521 | SFTPA2 | c.121C>T (p.Leu41=) c.172C>T (p.Leu58=) c.151C>T (p.Leu51=) | |
10 | g.79559363G>C | CA377353968 | SFTPA2 | c.121C>G (p.Leu41Val) c.172C>G (p.Leu58Val) c.151C>G (p.Leu51Val) | dbSNP |
10 | g.79559363G= | CA1922245522 | SFTPA2 | c.121C= (p.Leu41=) c.172C= (p.Leu58=) c.151C= (p.Leu51=) | |
10 | g.79559363G>T | CA377353969 | SFTPA2 | c.121C>A (p.Leu41Met) c.172C>A (p.Leu58Met) c.151C>A (p.Leu51Met) | |
10 | g.79559363_79559365del | CA2609869143 | SFTPA2 | c.119_121del (p.Gly40_Leu41delinsVal) c.170_172del (p.Gly57_Leu58delinsVal) c.149_151del (p.Gly50_Leu51delinsVal) | gnomAD v4 |
10 | g.79559364G>A | CA470417524 | SFTPA2 | c.120C>T (p.Gly40=) c.171C>T (p.Gly57=) c.150C>T (p.Gly50=) | dbSNP |
10 | g.79559364G>C | CA470417523 | SFTPA2 | c.120C>G (p.Gly40=) c.171C>G (p.Gly57=) c.150C>G (p.Gly50=) | gnomAD v4 |
10 | g.79559364G= | CA1922245523 | SFTPA2 | c.120C= (p.Gly40=) c.171C= (p.Gly57=) c.150C= (p.Gly50=) | |
10 | g.79559364G>T | CA470417522 | SFTPA2 | c.120C>A (p.Gly40=) c.171C>A (p.Gly57=) c.150C>A (p.Gly50=) | |
10 | g.79559365C>A | CA377353970 | SFTPA2 | c.119G>T (p.Gly40Val) c.170G>T (p.Gly57Val) c.149G>T (p.Gly50Val) | |
10 | g.79559365C= | CA1922245524 | SFTPA2 | c.119G= (p.Gly40=) c.170G= (p.Gly57=) c.149G= (p.Gly50=) | |
10 | g.79559365C>G | CA377353971 | SFTPA2 | c.119G>C (p.Gly40Ala) c.170G>C (p.Gly57Ala) c.149G>C (p.Gly50Ala) | |
10 | g.79559365C>T | CA210251161 | SFTPA2 | c.119G>A (p.Gly40Asp) c.170G>A (p.Gly57Asp) c.149G>A (p.Gly50Asp) | dbSNP |
10 | g.79559366C>A | CA377353972 | SFTPA2 | c.118G>T (p.Gly40Cys) c.169G>T (p.Gly57Cys) c.148G>T (p.Gly50Cys) | |
10 | g.79559366C= | CA1922245525 | SFTPA2 | c.118G= (p.Gly40=) c.169G= (p.Gly57=) c.148G= (p.Gly50=) | |
10 | g.79559366C>G | CA5574206 | SFTPA2 | c.118G>C (p.Gly40Arg) c.169G>C (p.Gly57Arg) c.148G>C (p.Gly50Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79559366C>T | CA5574205 | SFTPA2 | c.118G>A (p.Gly40Ser) c.169G>A (p.Gly57Ser) c.148G>A (p.Gly50Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79559367G>A | CA5574207 | SFTPA2 | c.117C>T (p.His39=) c.168C>T (p.His56=) c.147C>T (p.His49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79559367G>C | CA5574208 | SFTPA2 | c.117C>G (p.His39Gln) c.168C>G (p.His56Gln) c.147C>G (p.His49Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79559367G= | CA1922245526 | SFTPA2 | c.117C= (p.His39=) c.168C= (p.His56=) c.147C= (p.His49=) | |
10 | g.79559367G>T | CA377353973 | SFTPA2 | c.117C>A (p.His39Gln) c.168C>A (p.His56Gln) c.147C>A (p.His49Gln) | |
10 | g.79559368T>A | CA377353975 | SFTPA2 | c.116A>T (p.His39Leu) c.167A>T (p.His56Leu) c.146A>T (p.His49Leu) | |
10 | g.79559368T>C | CA377353976 | SFTPA2 | c.116A>G (p.His39Arg) c.167A>G (p.His56Arg) c.146A>G (p.His49Arg) | |
10 | g.79559368T>G | CA377353974 | SFTPA2 | c.116A>C (p.His39Pro) c.167A>C (p.His56Pro) c.146A>C (p.His49Pro) | |
10 | g.79559369G>A | CA377353977 | SFTPA2 | c.115C>T (p.His39Tyr) c.166C>T (p.His56Tyr) c.145C>T (p.His49Tyr) | |
10 | g.79559369G>C | CA377353978 | SFTPA2 | c.115C>G (p.His39Asp) c.166C>G (p.His56Asp) c.145C>G (p.His49Asp) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559369G= | CA1922245527 | SFTPA2 | c.115C= (p.His39=) c.166C= (p.His56=) c.145C= (p.His49=) | |
10 | g.79559369G>T | CA377353979 | SFTPA2 | c.115C>A (p.His39Asn) c.166C>A (p.His56Asn) c.145C>A (p.His49Asn) | |
10 | g.79559370G>A | CA470417525 | SFTPA2 | c.114C>T (p.Ser38=) c.165C>T (p.Ser55=) c.144C>T (p.Ser48=) | |
10 | g.79559370G>C | CA470417526 | SFTPA2 | c.114C>G (p.Ser38=) c.165C>G (p.Ser55=) c.144C>G (p.Ser48=) | |
10 | g.79559370G>T | CA470417527 | SFTPA2 | c.114C>A (p.Ser38=) c.165C>A (p.Ser55=) c.144C>A (p.Ser48=) | |
10 | g.79559371G>A | CA377353980 | SFTPA2 | c.113C>T (p.Ser38Phe) c.164C>T (p.Ser55Phe) c.143C>T (p.Ser48Phe) | |
10 | g.79559371G>C | CA377353981 | SFTPA2 | c.113C>G (p.Ser38Cys) c.164C>G (p.Ser55Cys) c.143C>G (p.Ser48Cys) | |
10 | g.79559371G>T | CA377353982 | SFTPA2 | c.113C>A (p.Ser38Tyr) c.164C>A (p.Ser55Tyr) c.143C>A (p.Ser48Tyr) | |
10 | g.79559372A>C | CA377353984 | SFTPA2 | c.112T>G (p.Ser38Ala) c.163T>G (p.Ser55Ala) c.142T>G (p.Ser48Ala) | gnomAD v4 |
10 | g.79559372A>G | CA377353986 | SFTPA2 | c.112T>C (p.Ser38Pro) c.163T>C (p.Ser55Pro) c.142T>C (p.Ser48Pro) | |
10 | g.79559372A>T | CA377353987 | SFTPA2 | c.112T>A (p.Ser38Thr) c.163T>A (p.Ser55Thr) c.142T>A (p.Ser48Thr) | |
10 | g.79559373T>A | CA470417528 | SFTPA2 | c.111A>T (p.Gly37=) c.162A>T (p.Gly54=) c.141A>T (p.Gly47=) | |
10 | g.79559373T>C | CA470417529 | SFTPA2 | c.111A>G (p.Gly37=) c.162A>G (p.Gly54=) c.141A>G (p.Gly47=) | dbSNP |
10 | g.79559373T>G | CA470417530 | SFTPA2 | c.111A>C (p.Gly37=) c.162A>C (p.Gly54=) c.141A>C (p.Gly47=) | |
10 | g.79559373T= | CA1922245528 | SFTPA2 | c.111A= (p.Gly37=) c.162A= (p.Gly54=) c.141A= (p.Gly47=) | |
10 | g.79559374C>A | CA377353989 | SFTPA2 | c.110G>T (p.Gly37Val) c.161G>T (p.Gly54Val) c.140G>T (p.Gly47Val) | |
10 | g.79559374C>G | CA377353991 | SFTPA2 | c.110G>C (p.Gly37Ala) c.161G>C (p.Gly54Ala) c.140G>C (p.Gly47Ala) | |
10 | g.79559374C>T | CA377353993 | SFTPA2 | c.110G>A (p.Gly37Glu) c.161G>A (p.Gly54Glu) c.140G>A (p.Gly47Glu) | |
10 | g.79559375C>A | CA377353997 | SFTPA2 | c.109G>T (p.Gly37Ter) c.160G>T (p.Gly54Ter) c.139G>T (p.Gly47Ter) | |
10 | g.79559375C= | CA1922245529 | SFTPA2 | c.109G= (p.Gly37=) c.160G= (p.Gly54=) c.139G= (p.Gly47=) | |
10 | g.79559375C>G | CA377353999 | SFTPA2 | c.109G>C (p.Gly37Arg) c.160G>C (p.Gly54Arg) c.139G>C (p.Gly47Arg) | |
10 | g.79559375C>T | CA377353995 | SFTPA2 | c.109G>A (p.Gly37Arg) c.160G>A (p.Gly54Arg) c.139G>A (p.Gly47Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559376A>C | CA470417531 | SFTPA2 | c.108T>G (p.Pro36=) c.159T>G (p.Pro53=) c.138T>G (p.Pro46=) | |
10 | g.79559376A>G | CA470417532 | SFTPA2 | c.108T>C (p.Pro36=) c.159T>C (p.Pro53=) c.138T>C (p.Pro46=) | |
10 | g.79559376A>T | CA470417533 | SFTPA2 | c.108T>A (p.Pro36=) c.159T>A (p.Pro53=) c.138T>A (p.Pro46=) | |
10 | g.79559377G>A | CA377354001 | SFTPA2 | c.107C>T (p.Pro36Leu) c.158C>T (p.Pro53Leu) c.137C>T (p.Pro46Leu) | dbSNP |
10 | g.79559377G>C | CA377354002 | SFTPA2 | c.107C>G (p.Pro36Arg) c.158C>G (p.Pro53Arg) c.137C>G (p.Pro46Arg) | |
10 | g.79559377G>T | CA377354004 | SFTPA2 | c.107C>A (p.Pro36His) c.158C>A (p.Pro53His) c.137C>A (p.Pro46His) | COSMIC |
10 | g.79559378G>A | CA377354006 | SFTPA2 | c.106C>T (p.Pro36Ser) c.157C>T (p.Pro53Ser) c.136C>T (p.Pro46Ser) | dbSNP |
10 | g.79559378G>C | CA377354007 | SFTPA2 | c.106C>G (p.Pro36Ala) c.157C>G (p.Pro53Ala) c.136C>G (p.Pro46Ala) | gnomAD v4 |
10 | g.79559378G>T | CA377354008 | SFTPA2 | c.106C>A (p.Pro36Thr) c.157C>A (p.Pro53Thr) c.136C>A (p.Pro46Thr) | |
10 | g.79559379A= | CA1922245530 | SFTPA2 | c.105T= (p.Thr35=) c.156T= (p.Thr52=) c.135T= (p.Thr45=) | |
10 | g.79559379A>C | CA470417534 | SFTPA2 | c.105T>G (p.Thr35=) c.156T>G (p.Thr52=) c.135T>G (p.Thr45=) | |
10 | g.79559379A>G | CA5574209 | SFTPA2 | c.105T>C (p.Thr35=) c.156T>C (p.Thr52=) c.135T>C (p.Thr45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79559379A>T | CA470417535 | SFTPA2 | c.105T>A (p.Thr35=) c.156T>A (p.Thr52=) c.135T>A (p.Thr45=) | |
10 | g.79559380G>A | CA377354009 | SFTPA2 | c.104C>T (p.Thr35Ile) c.155C>T (p.Thr52Ile) c.134C>T (p.Thr45Ile) | gnomAD v4 |
10 | g.79559380G>C | CA377354011 | SFTPA2 | c.104C>G (p.Thr35Ser) c.155C>G (p.Thr52Ser) c.134C>G (p.Thr45Ser) | |
10 | g.79559380G>T | CA377354013 | SFTPA2 | c.104C>A (p.Thr35Asn) c.155C>A (p.Thr52Asn) c.134C>A (p.Thr45Asn) | |
10 | g.79559381T>A | CA377354015 | SFTPA2 | c.103A>T (p.Thr35Ser) c.154A>T (p.Thr52Ser) c.133A>T (p.Thr45Ser) | |
10 | g.79559381T>C | CA377354017 | SFTPA2 | c.103A>G (p.Thr35Ala) c.154A>G (p.Thr52Ala) c.133A>G (p.Thr45Ala) | |
10 | g.79559381T>G | CA377354018 | SFTPA2 | c.103A>C (p.Thr35Pro) c.154A>C (p.Thr52Pro) c.133A>C (p.Thr45Pro) | |
10 | g.79559382G>A | CA470417536 | SFTPA2 | c.102C>T (p.Gly34=) c.153C>T (p.Gly51=) c.132C>T (p.Gly44=) | gnomAD v4 |
10 | g.79559382G>C | CA470417537 | SFTPA2 | c.102C>G (p.Gly34=) c.153C>G (p.Gly51=) c.132C>G (p.Gly44=) | |
10 | g.79559382G>T | CA470417538 | SFTPA2 | c.102C>A (p.Gly34=) c.153C>A (p.Gly51=) c.132C>A (p.Gly44=) | gnomAD v4 |
10 | g.79559383C>A | CA377354021 | SFTPA2 | c.101G>T (p.Gly34Val) c.152G>T (p.Gly51Val) c.131G>T (p.Gly44Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559383C= | CA1922245531 | SFTPA2 | c.101G= (p.Gly34=) c.152G= (p.Gly51=) c.131G= (p.Gly44=) | |
10 | g.79559383C>G | CA377354020 | SFTPA2 | c.101G>C (p.Gly34Ala) c.152G>C (p.Gly51Ala) c.131G>C (p.Gly44Ala) | gnomAD v4 |
10 | g.79559383C>T | CA377354019 | SFTPA2 | c.101G>A (p.Gly34Asp) c.152G>A (p.Gly51Asp) c.131G>A (p.Gly44Asp) | dbSNP |
10 | g.79559384C>A | CA377354024 | SFTPA2 | c.100G>T (p.Gly34Cys) c.151G>T (p.Gly51Cys) c.130G>T (p.Gly44Cys) | |
10 | g.79559384C= | CA1922245533 | SFTPA2 | c.100G= (p.Gly34=) c.151G= (p.Gly51=) c.130G= (p.Gly44=) | |
10 | g.79559384C>G | CA377354026 | SFTPA2 | c.100G>C (p.Gly34Arg) c.151G>C (p.Gly51Arg) c.130G>C (p.Gly44Arg) | |
10 | g.79559384C>T | CA5574210 | SFTPA2 | c.100G>A (p.Gly34Ser) c.151G>A (p.Gly51Ser) c.130G>A (p.Gly44Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79559384_79559394delinsCGGGGATACCA | CA1922245532 | SFTPA2 | c.90_100delinsTGGTATCCCCG (p.Pro30=) c.141_151delinsTGGTATCCCCG (p.Pro47=) c.120_130delinsTGGTATCCCCG (p.Pro40=) | |
10 | g.79559385G>A | CA5574212 | SFTPA2 | c.99C>T (p.Pro33=) c.150C>T (p.Pro50=) c.129C>T (p.Pro43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79559385G>C | CA470417539 | SFTPA2 | c.99C>G (p.Pro33=) c.150C>G (p.Pro50=) c.129C>G (p.Pro43=) | |
10 | g.79559385G= | CA1922245534 | SFTPA2 | c.99C= (p.Pro33=) c.150C= (p.Pro50=) c.129C= (p.Pro43=) | |
10 | g.79559385G>T | CA470417540 | SFTPA2 | c.99C>A (p.Pro33=) c.150C>A (p.Pro50=) c.129C>A (p.Pro43=) | gnomAD v4 |
10 | g.79559388_79559397del | CA5574211 | SFTPA2 | c.90_99del (p.Gly31AlafsTer?) c.141_150del (p.Gly48AlafsTer?) c.120_129del (p.Gly41AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79559386G>A | CA377354029 | SFTPA2 | c.98C>T (p.Pro33Leu) c.149C>T (p.Pro50Leu) c.128C>T (p.Pro43Leu) | gnomAD v4 |
10 | g.79559386G>C | CA377354031 | SFTPA2 | c.98C>G (p.Pro33Arg) c.149C>G (p.Pro50Arg) c.128C>G (p.Pro43Arg) | gnomAD v4 |
10 | g.79559386G>T | CA377354033 | SFTPA2 | c.98C>A (p.Pro33His) c.149C>A (p.Pro50His) c.128C>A (p.Pro43His) | |
10 | g.79559387G>A | CA5574213 | SFTPA2 | c.97C>T (p.Pro33Ser) c.148C>T (p.Pro50Ser) c.127C>T (p.Pro43Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79559387G>C | CA377354036 | SFTPA2 | c.97C>G (p.Pro33Ala) c.148C>G (p.Pro50Ala) c.127C>G (p.Pro43Ala) | |
10 | g.79559387G= | CA1922245535 | SFTPA2 | c.97C= (p.Pro33=) c.148C= (p.Pro50=) c.127C= (p.Pro43=) | |
10 | g.79559387G>T | CA377354038 | SFTPA2 | c.97C>A (p.Pro33Thr) c.148C>A (p.Pro50Thr) c.127C>A (p.Pro43Thr) | gnomAD v4 |
10 | g.79559388G>A | CA470417541 | SFTPA2 | c.96C>T (p.Ile32=) c.147C>T (p.Ile49=) c.126C>T (p.Ile42=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559388G>C | CA377354040 | SFTPA2 | c.96C>G (p.Ile32Met) c.147C>G (p.Ile49Met) c.126C>G (p.Ile42Met) | |
10 | g.79559388G= | CA1922245536 | SFTPA2 | c.96C= (p.Ile32=) c.147C= (p.Ile49=) c.126C= (p.Ile42=) | |
10 | g.79559388G>T | CA470417542 | SFTPA2 | c.96C>A (p.Ile32=) c.147C>A (p.Ile49=) c.126C>A (p.Ile42=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559389A= | CA1922245537 | SFTPA2 | c.95T= (p.Ile32=) c.146T= (p.Ile49=) c.125T= (p.Ile42=) | |
10 | g.79559389A>C | CA377354042 | SFTPA2 | c.95T>G (p.Ile32Ser) c.146T>G (p.Ile49Ser) c.125T>G (p.Ile42Ser) | |
10 | g.79559389A>G | CA377354044 | SFTPA2 | c.95T>C (p.Ile32Thr) c.146T>C (p.Ile49Thr) c.125T>C (p.Ile42Thr) | |
10 | g.79559389A>T | CA377354045 | SFTPA2 | c.95T>A (p.Ile32Asn) c.146T>A (p.Ile49Asn) c.125T>A (p.Ile42Asn) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559390T>A | CA5574214 | SFTPA2 | c.94A>T (p.Ile32Phe) c.145A>T (p.Ile49Phe) c.124A>T (p.Ile42Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79559390T>C | CA377354046 | SFTPA2 | c.94A>G (p.Ile32Val) c.145A>G (p.Ile49Val) c.124A>G (p.Ile42Val) | dbSNP |
10 | g.79559390T>G | CA377354049 | SFTPA2 | c.94A>C (p.Ile32Leu) c.145A>C (p.Ile49Leu) c.124A>C (p.Ile42Leu) | |
10 | g.79559390T= | CA1922245538 | SFTPA2 | c.94A= (p.Ile32=) c.145A= (p.Ile49=) c.124A= (p.Ile42=) | |
10 | g.79559391A>C | CA470417543 | SFTPA2 | c.93T>G (p.Gly31=) c.144T>G (p.Gly48=) c.123T>G (p.Gly41=) | |
10 | g.79559391A>G | CA470417544 | SFTPA2 | c.93T>C (p.Gly31=) c.144T>C (p.Gly48=) c.123T>C (p.Gly41=) | |
10 | g.79559391A>T | CA470417545 | SFTPA2 | c.93T>A (p.Gly31=) c.144T>A (p.Gly48=) c.123T>A (p.Gly41=) | |
10 | g.79559392C>A | CA377354051 | SFTPA2 | c.92G>T (p.Gly31Val) c.143G>T (p.Gly48Val) c.122G>T (p.Gly41Val) | |
10 | g.79559392C>G | CA377354053 | SFTPA2 | c.92G>C (p.Gly31Ala) c.143G>C (p.Gly48Ala) c.122G>C (p.Gly41Ala) | |
10 | g.79559392C>T | CA377354055 | SFTPA2 | c.92G>A (p.Gly31Asp) c.143G>A (p.Gly48Asp) c.122G>A (p.Gly41Asp) | |
10 | g.79559393C>A | CA377354057 | SFTPA2 | c.91G>T (p.Gly31Cys) c.142G>T (p.Gly48Cys) c.121G>T (p.Gly41Cys) | |
10 | g.79559393C>G | CA377354059 | SFTPA2 | c.91G>C (p.Gly31Arg) c.142G>C (p.Gly48Arg) c.121G>C (p.Gly41Arg) | gnomAD v4 |
10 | g.79559393C>T | CA377354061 | SFTPA2 | c.91G>A (p.Gly31Ser) c.142G>A (p.Gly48Ser) c.121G>A (p.Gly41Ser) | gnomAD v4 |
10 | g.79559394A>C | CA470417546 | SFTPA2 | c.90T>G (p.Pro30=) c.141T>G (p.Pro47=) c.120T>G (p.Pro40=) | |
10 | g.79559394A>G | CA470417547 | SFTPA2 | c.90T>C (p.Pro30=) c.141T>C (p.Pro47=) c.120T>C (p.Pro40=) | |
10 | g.79559394A>T | CA470417548 | SFTPA2 | c.90T>A (p.Pro30=) c.141T>A (p.Pro47=) c.120T>A (p.Pro40=) | |
10 | g.79559395G>A | CA377354063 | SFTPA2 | c.89C>T (p.Pro30Leu) c.140C>T (p.Pro47Leu) c.119C>T (p.Pro40Leu) | |
10 | g.79559395G>C | CA377354064 | SFTPA2 | c.89C>G (p.Pro30Arg) c.140C>G (p.Pro47Arg) c.119C>G (p.Pro40Arg) | |
10 | g.79559395G>T | CA377354065 | SFTPA2 | c.89C>A (p.Pro30His) c.140C>A (p.Pro47His) c.119C>A (p.Pro40His) | |
10 | g.79559396G>A | CA377354067 | SFTPA2 | c.88C>T (p.Pro30Ser) c.139C>T (p.Pro47Ser) c.118C>T (p.Pro40Ser) | gnomAD v4 |
10 | g.79559396G>C | CA377354069 | SFTPA2 | c.88C>G (p.Pro30Ala) c.139C>G (p.Pro47Ala) c.118C>G (p.Pro40Ala) | |
10 | g.79559396G>T | CA377354071 | SFTPA2 | c.88C>A (p.Pro30Thr) c.139C>A (p.Pro47Thr) c.118C>A (p.Pro40Thr) | |
10 | g.79559397G>A | CA470417549 | SFTPA2 | c.87C>T (p.Ser29=) c.138C>T (p.Ser46=) c.117C>T (p.Ser39=) | dbSNP gnomAD v4 |
10 | g.79559397G>C | CA377354073 | SFTPA2 | c.87C>G (p.Ser29Arg) c.138C>G (p.Ser46Arg) c.117C>G (p.Ser39Arg) | |
10 | g.79559397G= | CA1922245539 | SFTPA2 | c.87C= (p.Ser29=) c.138C= (p.Ser46=) c.117C= (p.Ser39=) | |
10 | g.79559397G>T | CA377354074 | SFTPA2 | c.87C>A (p.Ser29Arg) c.138C>A (p.Ser46Arg) c.117C>A (p.Ser39Arg) | |
10 | g.79559398C>A | CA377354075 | SFTPA2 | c.86G>T (p.Ser29Ile) c.137G>T (p.Ser46Ile) c.116G>T (p.Ser39Ile) | |
10 | g.79559398C>G | CA377354077 | SFTPA2 | c.86G>C (p.Ser29Thr) c.137G>C (p.Ser46Thr) c.116G>C (p.Ser39Thr) | |
10 | g.79559398C>T | CA377354079 | SFTPA2 | c.86G>A (p.Ser29Asn) c.137G>A (p.Ser46Asn) c.116G>A (p.Ser39Asn) | gnomAD v4 |
10 | g.79559399T>A | CA377354081 | SFTPA2 | c.85A>T (p.Ser29Cys) c.136A>T (p.Ser46Cys) c.115A>T (p.Ser39Cys) | |
10 | g.79559399T>C | CA210251207 | SFTPA2 | c.85A>G (p.Ser29Gly) c.136A>G (p.Ser46Gly) c.115A>G (p.Ser39Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79559399T>G | CA377354083 | SFTPA2 | c.85A>C (p.Ser29Arg) c.136A>C (p.Ser46Arg) c.115A>C (p.Ser39Arg) | |
10 | g.79559399T= | CA1922245540 | SFTPA2 | c.85A= (p.Ser29=) c.136A= (p.Ser46=) c.115A= (p.Ser39=) | |
10 | g.79559400T>A | CA470417551 | SFTPA2 | c.84A>T (p.Gly28=) c.135A>T (p.Gly45=) c.114A>T (p.Gly38=) | |
10 | g.79559400T>C | CA470417552 | SFTPA2 | c.84A>G (p.Gly28=) c.135A>G (p.Gly45=) c.114A>G (p.Gly38=) | |
10 | g.79559400T>G | CA470417550 | SFTPA2 | c.84A>C (p.Gly28=) c.135A>C (p.Gly45=) c.114A>C (p.Gly38=) | |
10 | g.79559401C>A | CA377354085 | SFTPA2 | c.83G>T (p.Gly28Val) c.134G>T (p.Gly45Val) c.113G>T (p.Gly38Val) | |
10 | g.79559401C>G | CA377354086 | SFTPA2 | c.83G>C (p.Gly28Ala) c.134G>C (p.Gly45Ala) c.113G>C (p.Gly38Ala) | COSMIC |
10 | g.79559401C>T | CA377354088 | SFTPA2 | c.83G>A (p.Gly28Glu) c.134G>A (p.Gly45Glu) c.113G>A (p.Gly38Glu) | |
10 | g.79559402C>A | CA377354090 | SFTPA2 | c.82G>T (p.Gly28Ter) c.133G>T (p.Gly45Ter) c.112G>T (p.Gly38Ter) | |
10 | g.79559402C>G | CA377354092 | SFTPA2 | c.82G>C (p.Gly28Arg) c.133G>C (p.Gly45Arg) c.112G>C (p.Gly38Arg) | gnomAD v4 |
10 | g.79559402C>T | CA377354094 | SFTPA2 | c.82G>A (p.Gly28Arg) c.133G>A (p.Gly45Arg) c.112G>A (p.Gly38Arg) | gnomAD v4 COSMIC |
10 | g.79559404_79559419del | CA2609869144 | SFTPA2 | c.67_82del (p.Lys23GlufsTer?) c.118_133del (p.Lys40GlufsTer?) c.97_112del (p.Lys33GlufsTer?) | gnomAD v4 |
10 | g.79559403A= | CA1922245541 | SFTPA2 | c.81T= (p.Val27=) c.132T= (p.Val44=) c.111T= (p.Val37=) | |
10 | g.79559403A>C | CA470417555 | SFTPA2 | c.81T>G (p.Val27=) c.132T>G (p.Val44=) c.111T>G (p.Val37=) | |
10 | g.79559403A>G | CA470417553 | SFTPA2 | c.81T>C (p.Val27=) c.132T>C (p.Val44=) c.111T>C (p.Val37=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559403A>T | CA470417554 | SFTPA2 | c.81T>A (p.Val27=) c.132T>A (p.Val44=) c.111T>A (p.Val37=) | |
10 | g.79559404A= | CA1922245542 | SFTPA2 | c.80T= (p.Val27=) c.131T= (p.Val44=) c.110T= (p.Val37=) | |
10 | g.79559404A>C | CA377354097 | SFTPA2 | c.80T>G (p.Val27Gly) c.131T>G (p.Val44Gly) c.110T>G (p.Val37Gly) | |
10 | g.79559404A>G | CA377354100 | SFTPA2 | c.80T>C (p.Val27Ala) c.131T>C (p.Val44Ala) c.110T>C (p.Val37Ala) | dbSNP gnomAD v4 |
10 | g.79559404A>T | CA377354095 | SFTPA2 | c.80T>A (p.Val27Asp) c.131T>A (p.Val44Asp) c.110T>A (p.Val37Asp) | |
10 | g.79559405C>A | CA377354102 | SFTPA2 | c.79G>T (p.Val27Phe) c.130G>T (p.Val44Phe) c.109G>T (p.Val37Phe) | |
10 | g.79559405C= | CA1922245543 | SFTPA2 | c.79G= (p.Val27=) c.130G= (p.Val44=) c.109G= (p.Val37=) | |
10 | g.79559405C>G | CA377354105 | SFTPA2 | c.79G>C (p.Val27Leu) c.130G>C (p.Val44Leu) c.109G>C (p.Val37Leu) | |
10 | g.79559405C>T | CA377354107 | SFTPA2 | c.79G>A (p.Val27Ile) c.130G>A (p.Val44Ile) c.109G>A (p.Val37Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559406A>C | CA377354109 | SFTPA2 | c.78T>G (p.Cys26Trp) c.129T>G (p.Cys43Trp) c.108T>G (p.Cys36Trp) | |
10 | g.79559406A>G | CA470417556 | SFTPA2 | c.78T>C (p.Cys26=) c.129T>C (p.Cys43=) c.108T>C (p.Cys36=) | |
10 | g.79559406A>T | CA377354111 | SFTPA2 | c.78T>A (p.Cys26Ter) c.129T>A (p.Cys43Ter) c.108T>A (p.Cys36Ter) | |
10 | g.79559407C>A | CA377354118 | SFTPA2 | c.77G>T (p.Cys26Phe) c.128G>T (p.Cys43Phe) c.107G>T (p.Cys36Phe) | |
10 | g.79559407C= | CA1922245544 | SFTPA2 | c.77G= (p.Cys26=) c.128G= (p.Cys43=) c.107G= (p.Cys36=) | |
10 | g.79559407C>G | CA210251215 | SFTPA2 | c.77G>C (p.Cys26Ser) c.128G>C (p.Cys43Ser) c.107G>C (p.Cys36Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559407C>T | CA377354116 | SFTPA2 | c.77G>A (p.Cys26Tyr) c.128G>A (p.Cys43Tyr) c.107G>A (p.Cys36Tyr) | dbSNP |
10 | g.79559408A>C | CA377354121 | SFTPA2 | c.76T>G (p.Cys26Gly) c.127T>G (p.Cys43Gly) c.106T>G (p.Cys36Gly) | |
10 | g.79559408A>G | CA377354123 | SFTPA2 | c.76T>C (p.Cys26Arg) c.127T>C (p.Cys43Arg) c.106T>C (p.Cys36Arg) | |
10 | g.79559408A>T | CA377354126 | SFTPA2 | c.76T>A (p.Cys26Ser) c.127T>A (p.Cys43Ser) c.106T>A (p.Cys36Ser) | |
10 | g.79559409A>C | CA470417557 | SFTPA2 | c.75T>G (p.Val25=) c.126T>G (p.Val42=) c.105T>G (p.Val35=) | |
10 | g.79559409A>G | CA470417559 | SFTPA2 | c.75T>C (p.Val25=) c.126T>C (p.Val42=) c.105T>C (p.Val35=) | |
10 | g.79559409A>T | CA470417558 | SFTPA2 | c.75T>A (p.Val25=) c.126T>A (p.Val42=) c.105T>A (p.Val35=) | |
10 | g.79559410A>C | CA377354129 | SFTPA2 | c.74T>G (p.Val25Gly) c.125T>G (p.Val42Gly) c.104T>G (p.Val35Gly) | |
10 | g.79559410A>G | CA377354131 | SFTPA2 | c.74T>C (p.Val25Ala) c.125T>C (p.Val42Ala) c.104T>C (p.Val35Ala) | |
10 | g.79559410A>T | CA377354133 | SFTPA2 | c.74T>A (p.Val25Asp) c.125T>A (p.Val42Asp) c.104T>A (p.Val35Asp) | |
10 | g.79559411C>A | CA377354136 | SFTPA2 | c.73G>T (p.Val25Phe) c.124G>T (p.Val42Phe) c.103G>T (p.Val35Phe) | |
10 | g.79559411C= | CA1922245545 | SFTPA2 | c.73G= (p.Val25=) c.124G= (p.Val42=) c.103G= (p.Val35=) | |
10 | g.79559411C>G | CA377354138 | SFTPA2 | c.73G>C (p.Val25Leu) c.124G>C (p.Val42Leu) c.103G>C (p.Val35Leu) | gnomAD v4 |
10 | g.79559411C>T | CA5574215 | SFTPA2 | c.73G>A (p.Val25Ile) c.124G>A (p.Val42Ile) c.103G>A (p.Val35Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79559412G>A | CA5574216 | SFTPA2 | c.72C>T (p.Asp24=) c.123C>T (p.Asp41=) c.102C>T (p.Asp34=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79559412G>C | CA377354141 | SFTPA2 | c.72C>G (p.Asp24Glu) c.123C>G (p.Asp41Glu) c.102C>G (p.Asp34Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559412G= | CA1922245546 | SFTPA2 | c.72C= (p.Asp24=) c.123C= (p.Asp41=) c.102C= (p.Asp34=) | |
10 | g.79559412G>T | CA377354143 | SFTPA2 | c.72C>A (p.Asp24Glu) c.123C>A (p.Asp41Glu) c.102C>A (p.Asp34Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559413T>A | CA377354146 | SFTPA2 | c.71A>T (p.Asp24Val) c.122A>T (p.Asp41Val) c.101A>T (p.Asp34Val) | |
10 | g.79559413T>C | CA377354148 | SFTPA2 | c.71A>G (p.Asp24Gly) c.122A>G (p.Asp41Gly) c.101A>G (p.Asp34Gly) | |
10 | g.79559413T>G | CA377354150 | SFTPA2 | c.71A>C (p.Asp24Ala) c.122A>C (p.Asp41Ala) c.101A>C (p.Asp34Ala) | |
10 | g.79559414C>A | CA377354153 | SFTPA2 | c.70G>T (p.Asp24Tyr) c.*1G>T (n.*1G>T) c.121G>T (p.Asp41Tyr) c.100G>T (p.Asp34Tyr) | |
10 | g.79559414C= | CA1922245547 | SFTPA2 | c.70G= (p.Asp24=) c.*1G= (n.*1G=) c.121G= (p.Asp41=) c.100G= (p.Asp34=) | |
10 | g.79559414C>G | CA377354154 | SFTPA2 | c.70G>C (p.Asp24His) c.*1G>C (n.*1G>C) c.121G>C (p.Asp41His) c.100G>C (p.Asp34His) | |
10 | g.79559414C>T | CA210251246 | SFTPA2 | c.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 |
10 | g.79559415C>A | CA377354159 | SFTPA2 | c.69G>T (p.Lys23Asn) c.114G>T (p.Lys38Asn) c.120G>T (p.Lys40Asn) c.99G>T (p.Lys33Asn) | |
10 | g.79559415C= | CA1922245549 | SFTPA2 | c.69G= (p.Lys23=) c.114G= (p.Lys38=) c.120G= (p.Lys40=) c.99G= (p.Lys33=) | |
10 | g.79559415C>G | CA377354162 | SFTPA2 | c.69G>C (p.Lys23Asn) c.114G>C (p.Lys38Asn) c.120G>C (p.Lys40Asn) c.99G>C (p.Lys33Asn) | |
10 | g.79559415C>T | CA5574218 | SFTPA2 | c.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 |
10 | g.79559415_79559416delinsCT | CA1922245548 | SFTPA2 | c.68_69delinsAG (p.Lys23=) c.113_114delinsAG (p.Lys38=) c.119_120delinsAG (p.Lys40=) c.98_99delinsAG (p.Lys33=) | |
10 | g.79559416T>A | CA377354172 | SFTPA2 | c.68A>T (p.Lys23Met) c.113A>T (p.Lys38Met) c.119A>T (p.Lys40Met) c.98A>T (p.Lys33Met) | |
10 | g.79559416T>C | CA377354170 | SFTPA2 | c.68A>G (p.Lys23Arg) c.113A>G (p.Lys38Arg) c.119A>G (p.Lys40Arg) c.98A>G (p.Lys33Arg) | |
10 | g.79559416T>G | CA377354168 | SFTPA2 | c.68A>C (p.Lys23Thr) c.113A>C (p.Lys38Thr) c.119A>C (p.Lys40Thr) c.98A>C (p.Lys33Thr) | |
10 | g.79559417del | CA5574217 | SFTPA2 | c.68del (p.Lys23ArgfsTer?) c.113del (p.Lys38ArgfsTer?) c.119del (p.Lys40ArgfsTer?) c.98del (p.Lys33ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79559417T>A | CA377354180 | SFTPA2 | c.67A>T (p.Lys23Ter) c.112A>T (p.Lys38Ter) c.118A>T (p.Lys40Ter) c.97A>T (p.Lys33Ter) | |
10 | g.79559417T>C | CA377354183 | SFTPA2 | c.67A>G (p.Lys23Glu) c.112A>G (p.Lys38Glu) c.118A>G (p.Lys40Glu) c.97A>G (p.Lys33Glu) | |
10 | g.79559417T>G | CA377354186 | SFTPA2 | c.67A>C (p.Lys23Gln) c.112A>C (p.Lys38Gln) c.118A>C (p.Lys40Gln) c.97A>C (p.Lys33Gln) | |
10 | g.79559418del | CA2609869148 | SFTPA2 | c.66del (p.Lys23ArgfsTer?) c.111del (p.Lys38ArgfsTer?) c.117del (p.Lys40ArgfsTer?) c.96del (p.Lys33ArgfsTer?) | gnomAD v4 |
10 | g.79559418C>A | CA470417560 | SFTPA2 | c.66G>T (p.Val22=) c.111G>T (p.Val37=) c.117G>T (p.Val39=) c.96G>T (p.Val32=) | |
10 | g.79559418C>G | CA470417561 | SFTPA2 | c.66G>C (p.Val22=) c.111G>C (p.Val37=) c.117G>C (p.Val39=) c.96G>C (p.Val32=) | |
10 | g.79559418C>T | CA470417562 | SFTPA2 | c.66G>A (p.Val22=) c.111G>A (p.Val37=) c.117G>A (p.Val39=) c.96G>A (p.Val32=) | gnomAD v4 |
10 | g.79559419A= | CA1922245550 | SFTPA2 | c.65T= (p.Val22=) c.110T= (p.Val37=) c.116T= (p.Val39=) c.95T= (p.Val32=) | |
10 | g.79559419A>C | CA5574219 | SFTPA2 | c.65T>G (p.Val22Gly) c.110T>G (p.Val37Gly) c.116T>G (p.Val39Gly) c.95T>G (p.Val32Gly) | dbSNP ExAC gnomAD v2 |
10 | g.79559419A>G | CA5574220 | SFTPA2 | c.65T>C (p.Val22Ala) c.110T>C (p.Val37Ala) c.116T>C (p.Val39Ala) c.95T>C (p.Val32Ala) | dbSNP ExAC gnomAD v2 |
10 | g.79559419A>T | CA377354190 | SFTPA2 | c.65T>A (p.Val22Glu) c.110T>A (p.Val37Glu) c.116T>A (p.Val39Glu) c.95T>A (p.Val32Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559420C>A | CA377354194 | SFTPA2 | c.64G>T (p.Val22Leu) c.109G>T (p.Val37Leu) c.115G>T (p.Val39Leu) c.94G>T (p.Val32Leu) | gnomAD v4 |
10 | g.79559420C>G | CA377354196 | SFTPA2 | c.64G>C (p.Val22Leu) c.109G>C (p.Val37Leu) c.115G>C (p.Val39Leu) c.94G>C (p.Val32Leu) | gnomAD v4 |
10 | g.79559420C>T | CA377354199 | SFTPA2 | c.64G>A (p.Val22Met) c.109G>A (p.Val37Met) c.115G>A (p.Val39Met) c.94G>A (p.Val32Met) | |
10 | g.79559421T>A | CA377354201 | SFTPA2 | c.63A>T (p.Glu21Asp) c.108A>T (p.Glu36Asp) c.114A>T (p.Glu38Asp) c.93A>T (p.Glu31Asp) | gnomAD v4 |
10 | g.79559421T>C | CA470417563 | SFTPA2 | c.63A>G (p.Glu21=) c.108A>G (p.Glu36=) c.114A>G (p.Glu38=) c.93A>G (p.Glu31=) | |
10 | g.79559421T>G | CA377354203 | SFTPA2 | c.63A>C (p.Glu21Asp) c.108A>C (p.Glu36Asp) c.114A>C (p.Glu38Asp) c.93A>C (p.Glu31Asp) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559421T= | CA1922245551 | SFTPA2 | c.63A= (p.Glu21=) c.108A= (p.Glu36=) c.114A= (p.Glu38=) c.93A= (p.Glu31=) | |
10 | g.79559422T>A | CA377354207 | SFTPA2 | c.62A>T (p.Glu21Val) c.107A>T (p.Glu36Val) c.113A>T (p.Glu38Val) c.92A>T (p.Glu31Val) | |
10 | g.79559422T>C | CA377354208 | SFTPA2 | c.62A>G (p.Glu21Gly) c.107A>G (p.Glu36Gly) c.113A>G (p.Glu38Gly) c.92A>G (p.Glu31Gly) | |
10 | g.79559422T>G | CA377354211 | SFTPA2 | c.62A>C (p.Glu21Ala) c.107A>C (p.Glu36Ala) c.113A>C (p.Glu38Ala) c.92A>C (p.Glu31Ala) | |
10 | g.79559423C>A | CA377354216 | SFTPA2 | c.61G>T (p.Glu21Ter) c.106G>T (p.Glu36Ter) c.112G>T (p.Glu38Ter) c.91G>T (p.Glu31Ter) | gnomAD v3 gnomAD v4 |
10 | g.79559423C= | CA1922245552 | SFTPA2 | c.61G= (p.Glu21=) c.106G= (p.Glu36=) c.112G= (p.Glu38=) c.91G= (p.Glu31=) | |
10 | g.79559423C>G | CA377354215 | SFTPA2 | c.61G>C (p.Glu21Gln) c.106G>C (p.Glu36Gln) c.112G>C (p.Glu38Gln) c.91G>C (p.Glu31Gln) | gnomAD v4 |
10 | g.79559423C>T | CA5574221 | SFTPA2 | c.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 |
10 | g.79559424G>A | CA5574222 | SFTPA2 | c.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 |
10 | g.79559424G>C | CA377354222 | SFTPA2 | c.60C>G (p.Cys20Trp) c.105C>G (p.Cys35Trp) c.111C>G (p.Cys37Trp) c.90C>G (p.Cys30Trp) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559424G= | CA1922245553 | SFTPA2 | c.60C= (p.Cys20=) c.105C= (p.Cys35=) c.111C= (p.Cys37=) c.90C= (p.Cys30=) | |
10 | g.79559424G>T | CA377354224 | SFTPA2 | c.60C>A (p.Cys20Ter) c.105C>A (p.Cys35Ter) c.111C>A (p.Cys37Ter) c.90C>A (p.Cys30Ter) | gnomAD v4 |
10 | g.79559425C>A | CA377354228 | SFTPA2 | c.59G>T (p.Cys20Phe) c.104G>T (p.Cys35Phe) c.110G>T (p.Cys37Phe) c.89G>T (p.Cys30Phe) | |
10 | g.79559425C= | CA1922245554 | SFTPA2 | c.59G= (p.Cys20=) c.104G= (p.Cys35=) c.110G= (p.Cys37=) c.89G= (p.Cys30=) | |
10 | g.79559425C>G | CA377354230 | SFTPA2 | c.59G>C (p.Cys20Ser) c.104G>C (p.Cys35Ser) c.110G>C (p.Cys37Ser) c.89G>C (p.Cys30Ser) | |
10 | g.79559425C>T | CA5574223 | SFTPA2 | c.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 |
10 | g.79559426A>C | CA377354243 | SFTPA2 | c.58T>G (p.Cys20Gly) c.103T>G (p.Cys35Gly) c.109T>G (p.Cys37Gly) c.88T>G (p.Cys30Gly) | |
10 | g.79559426A>G | CA377354236 | SFTPA2 | c.58T>C (p.Cys20Arg) c.103T>C (p.Cys35Arg) c.109T>C (p.Cys37Arg) c.88T>C (p.Cys30Arg) | |
10 | g.79559426A>T | CA377354241 | SFTPA2 | c.58T>A (p.Cys20Ser) c.103T>A (p.Cys35Ser) c.109T>A (p.Cys37Ser) c.88T>A (p.Cys30Ser) | |
10 | g.79559427C>A | CA470417564 | SFTPA2 | c.57G>T (p.Ala19=) c.102G>T (p.Ala34=) c.108G>T (p.Ala36=) c.87G>T (p.Ala29=) | |
10 | g.79559427C= | CA1922245555 | SFTPA2 | c.57G= (p.Ala19=) c.102G= (p.Ala34=) c.108G= (p.Ala36=) c.87G= (p.Ala29=) | |
10 | g.79559427C>G | CA5574224 | SFTPA2 | c.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 |
10 | g.79559427C>T | CA5574225 | SFTPA2 | c.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 |
10 | g.79559428G>A | CA5574226 | SFTPA2 | c.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 |
10 | g.79559428G>C | CA377354254 | SFTPA2 | c.56C>G (p.Ala19Gly) c.101C>G (p.Ala34Gly) c.107C>G (p.Ala36Gly) c.86C>G (p.Ala29Gly) | |
10 | g.79559428G= | CA1922245556 | SFTPA2 | c.56C= (p.Ala19=) c.101C= (p.Ala34=) c.107C= (p.Ala36=) c.86C= (p.Ala29=) | |
10 | g.79559428G>T | CA377354257 | SFTPA2 | c.56C>A (p.Ala19Glu) c.101C>A (p.Ala34Glu) c.107C>A (p.Ala36Glu) c.86C>A (p.Ala29Glu) | |
10 | g.79559431_79559433del | CA2609869151 | SFTPA2 | c.54_56del (p.Ala19del) c.99_101del (p.Ala34del) c.105_107del (p.Ala36del) c.84_86del (p.Ala29del) | gnomAD v4 |
10 | g.79559429C>A | CA377354266 | SFTPA2 | c.55G>T (p.Ala19Ser) c.100G>T (p.Ala34Ser) c.106G>T (p.Ala36Ser) c.85G>T (p.Ala29Ser) | |
10 | g.79559429C= | CA1922245557 | SFTPA2 | c.55G= (p.Ala19=) c.100G= (p.Ala34=) c.106G= (p.Ala36=) c.85G= (p.Ala29=) | |
10 | g.79559429C>G | CA377354261 | SFTPA2 | c.55G>C (p.Ala19Pro) c.100G>C (p.Ala34Pro) c.106G>C (p.Ala36Pro) c.85G>C (p.Ala29Pro) | dbSNP |
10 | g.79559429C>T | CA377354264 | SFTPA2 | c.55G>A (p.Ala19Thr) c.100G>A (p.Ala34Thr) c.106G>A (p.Ala36Thr) c.85G>A (p.Ala29Thr) | gnomAD v4 COSMIC |
10 | g.79559430A>C | CA470417567 | SFTPA2 | c.54T>G (p.Ala18=) c.99T>G (p.Ala33=) c.105T>G (p.Ala35=) c.84T>G (p.Ala28=) | |
10 | g.79559430A>G | CA470417566 | SFTPA2 | c.54T>C (p.Ala18=) c.99T>C (p.Ala33=) c.105T>C (p.Ala35=) c.84T>C (p.Ala28=) | |
10 | g.79559430A>T | CA470417565 | SFTPA2 | c.54T>A (p.Ala18=) c.99T>A (p.Ala33=) c.105T>A (p.Ala35=) c.84T>A (p.Ala28=) | |
10 | g.79559431G>A | CA377354268 | SFTPA2 | c.53C>T (p.Ala18Val) c.98C>T (p.Ala33Val) c.104C>T (p.Ala35Val) c.83C>T (p.Ala28Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559431G>C | CA377354270 | SFTPA2 | c.53C>G (p.Ala18Gly) c.98C>G (p.Ala33Gly) c.104C>G (p.Ala35Gly) c.83C>G (p.Ala28Gly) | |
10 | g.79559431G= | CA1922245558 | SFTPA2 | c.53C= (p.Ala18=) c.98C= (p.Ala33=) c.104C= (p.Ala35=) c.83C= (p.Ala28=) | |
10 | g.79559431G>T | CA377354272 | SFTPA2 | c.53C>A (p.Ala18Asp) c.98C>A (p.Ala33Asp) c.104C>A (p.Ala35Asp) c.83C>A (p.Ala28Asp) | |
10 | g.79559432C>A | CA377354276 | SFTPA2 | c.52G>T (p.Ala18Ser) c.97G>T (p.Ala33Ser) c.103G>T (p.Ala35Ser) c.82G>T (p.Ala28Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559432C= | CA1922245559 | SFTPA2 | c.52G= (p.Ala18=) c.97G= (p.Ala33=) c.103G= (p.Ala35=) c.82G= (p.Ala28=) | |
10 | g.79559432C>G | CA377354277 | SFTPA2 | c.52G>C (p.Ala18Pro) c.97G>C (p.Ala33Pro) c.103G>C (p.Ala35Pro) c.82G>C (p.Ala28Pro) | |
10 | g.79559432C>T | CA377354279 | SFTPA2 | c.52G>A (p.Ala18Thr) c.97G>A (p.Ala33Thr) c.103G>A (p.Ala35Thr) c.82G>A (p.Ala28Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559433A= | CA1922245560 | SFTPA2 | c.51T= (p.Gly17=) c.96T= (p.Gly32=) c.102T= (p.Gly34=) c.81T= (p.Gly27=) | |
10 | g.79559433A>C | CA470417570 | SFTPA2 | c.51T>G (p.Gly17=) c.96T>G (p.Gly32=) c.102T>G (p.Gly34=) c.81T>G (p.Gly27=) | |
10 | g.79559433A>G | CA470417569 | SFTPA2 | c.51T>C (p.Gly17=) c.96T>C (p.Gly32=) c.102T>C (p.Gly34=) c.81T>C (p.Gly27=) | dbSNP |
10 | g.79559433A>T | CA470417568 | SFTPA2 | c.51T>A (p.Gly17=) c.96T>A (p.Gly32=) c.102T>A (p.Gly34=) c.81T>A (p.Gly27=) | |
10 | g.79559434C>A | CA377354281 | SFTPA2 | c.50G>T (p.Gly17Val) c.95G>T (p.Gly32Val) c.101G>T (p.Gly34Val) c.80G>T (p.Gly27Val) | |
10 | g.79559434C>G | CA377354284 | SFTPA2 | c.50G>C (p.Gly17Ala) c.95G>C (p.Gly32Ala) c.101G>C (p.Gly34Ala) c.80G>C (p.Gly27Ala) | |
10 | g.79559434C>T | CA377354285 | SFTPA2 | c.50G>A (p.Gly17Asp) c.95G>A (p.Gly32Asp) c.101G>A (p.Gly34Asp) c.80G>A (p.Gly27Asp) | |
10 | g.79559435C>A | CA377354289 | SFTPA2 | c.49G>T (p.Gly17Cys) c.94G>T (p.Gly32Cys) c.100G>T (p.Gly34Cys) c.79G>T (p.Gly27Cys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559435C= | CA1922245561 | SFTPA2 | c.49G= (p.Gly17=) c.94G= (p.Gly32=) c.100G= (p.Gly34=) c.79G= (p.Gly27=) | |
10 | g.79559435C>G | CA377354292 | SFTPA2 | c.49G>C (p.Gly17Arg) c.94G>C (p.Gly32Arg) c.100G>C (p.Gly34Arg) c.79G>C (p.Gly27Arg) | |
10 | g.79559435C>T | CA377354293 | SFTPA2 | c.49G>A (p.Gly17Ser) c.94G>A (p.Gly32Ser) c.100G>A (p.Gly34Ser) c.79G>A (p.Gly27Ser) | |
10 | g.79559436A= | CA1922245562 | SFTPA2 | c.48T= (p.Ser16=) c.93T= (p.Ser31=) c.99T= (p.Ser33=) c.78T= (p.Ser26=) | |
10 | g.79559436A>C | CA470417571 | SFTPA2 | c.48T>G (p.Ser16=) c.93T>G (p.Ser31=) c.99T>G (p.Ser33=) c.78T>G (p.Ser26=) | |
10 | g.79559436A>G | CA470417572 | SFTPA2 | c.48T>C (p.Ser16=) c.93T>C (p.Ser31=) c.99T>C (p.Ser33=) c.78T>C (p.Ser26=) | |
10 | g.79559436A>T | CA210251298 | SFTPA2 | c.48T>A (p.Ser16=) c.93T>A (p.Ser31=) c.99T>A (p.Ser33=) c.78T>A (p.Ser26=) | dbSNP gnomAD v4 |
10 | g.79559437G>A | CA377354303 | SFTPA2 | c.47C>T (p.Ser16Phe) c.92C>T (p.Ser31Phe) c.98C>T (p.Ser33Phe) c.77C>T (p.Ser26Phe) | |
10 | g.79559437G>C | CA377354296 | SFTPA2 | c.47C>G (p.Ser16Cys) c.92C>G (p.Ser31Cys) c.98C>G (p.Ser33Cys) c.77C>G (p.Ser26Cys) | |
10 | g.79559437G>T | CA377354302 | SFTPA2 | c.47C>A (p.Ser16Tyr) c.92C>A (p.Ser31Tyr) c.98C>A (p.Ser33Tyr) c.77C>A (p.Ser26Tyr) | |
10 | g.79559438A>C | CA377354305 | SFTPA2 | c.46T>G (p.Ser16Ala) c.91T>G (p.Ser31Ala) c.97T>G (p.Ser33Ala) c.76T>G (p.Ser26Ala) | |
10 | g.79559438A>G | CA377354309 | SFTPA2 | c.46T>C (p.Ser16Pro) c.91T>C (p.Ser31Pro) c.97T>C (p.Ser33Pro) c.76T>C (p.Ser26Pro) | |
10 | g.79559438A>T | CA377354307 | SFTPA2 | c.46T>A (p.Ser16Thr) c.91T>A (p.Ser31Thr) c.97T>A (p.Ser33Thr) c.76T>A (p.Ser26Thr) | |
10 | g.79559439G>A | CA5574227 | SFTPA2 | c.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 |
10 | g.79559439G>C | CA470417573 | SFTPA2 | c.45C>G (p.Ala15=) c.90C>G (p.Ala30=) c.96C>G (p.Ala32=) c.75C>G (p.Ala25=) | |
10 | g.79559439G= | CA1922245563 | SFTPA2 | c.45C= (p.Ala15=) c.90C= (p.Ala30=) c.96C= (p.Ala32=) c.75C= (p.Ala25=) | |
10 | g.79559439G>T | CA470417574 | SFTPA2 | c.45C>A (p.Ala15=) c.90C>A (p.Ala30=) c.96C>A (p.Ala32=) c.75C>A (p.Ala25=) | |
10 | g.79559440G>A | CA377354311 | SFTPA2 | c.44C>T (p.Ala15Val) c.89C>T (p.Ala30Val) c.95C>T (p.Ala32Val) c.74C>T (p.Ala25Val) | |
10 | g.79559440G>C | CA5574229 | SFTPA2 | c.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 |
10 | g.79559440G= | CA1922245564 | SFTPA2 | c.44C= (p.Ala15=) c.89C= (p.Ala30=) c.95C= (p.Ala32=) c.74C= (p.Ala25=) | |
10 | g.79559440G>T | CA5574228 | SFTPA2 | c.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 |
10 | g.79559441C>A | CA377354315 | SFTPA2 | c.43G>T (p.Ala15Ser) c.88G>T (p.Ala30Ser) c.94G>T (p.Ala32Ser) c.73G>T (p.Ala25Ser) | |
10 | g.79559441C= | CA1922245565 | SFTPA2 | c.43G= (p.Ala15=) c.88G= (p.Ala30=) c.94G= (p.Ala32=) c.73G= (p.Ala25=) | |
10 | g.79559441C>G | CA377354318 | SFTPA2 | c.43G>C (p.Ala15Pro) c.88G>C (p.Ala30Pro) c.94G>C (p.Ala32Pro) c.73G>C (p.Ala25Pro) | |
10 | g.79559441C>T | CA377354320 | SFTPA2 | c.43G>A (p.Ala15Thr) c.88G>A (p.Ala30Thr) c.94G>A (p.Ala32Thr) c.73G>A (p.Ala25Thr) | dbSNP gnomAD v4 |
10 | g.79559442T>A | CA470417575 | SFTPA2 | c.42A>T (p.Ala14=) c.87A>T (p.Ala29=) c.93A>T (p.Ala31=) c.72A>T (p.Ala24=) | |
10 | g.79559442T>C | CA470417576 | SFTPA2 | c.42A>G (p.Ala14=) c.87A>G (p.Ala29=) c.93A>G (p.Ala31=) c.72A>G (p.Ala24=) | |
10 | g.79559442T>G | CA470417577 | SFTPA2 | c.42A>C (p.Ala14=) c.87A>C (p.Ala29=) c.93A>C (p.Ala31=) c.72A>C (p.Ala24=) | |
10 | g.79559443G>A | CA377354323 | SFTPA2 | c.41C>T (p.Ala14Val) c.86C>T (p.Ala29Val) c.92C>T (p.Ala31Val) c.71C>T (p.Ala24Val) | |
10 | g.79559443G>C | CA377354329 | SFTPA2 | c.41C>G (p.Ala14Gly) c.86C>G (p.Ala29Gly) c.92C>G (p.Ala31Gly) c.71C>G (p.Ala24Gly) | |
10 | g.79559443G= | CA1922245566 | SFTPA2 | c.41C= (p.Ala14=) c.86C= (p.Ala29=) c.92C= (p.Ala31=) c.71C= (p.Ala24=) | |
10 | g.79559443G>T | CA377354331 | SFTPA2 | c.41C>A (p.Ala14Glu) c.86C>A (p.Ala29Glu) c.92C>A (p.Ala31Glu) c.71C>A (p.Ala24Glu) | dbSNP |
10 | g.79559444C>A | CA377354332 | SFTPA2 | c.40G>T (p.Ala14Ser) c.85G>T (p.Ala29Ser) c.91G>T (p.Ala31Ser) c.70G>T (p.Ala24Ser) | gnomAD v4 |
10 | g.79559444C>G | CA377354334 | SFTPA2 | c.40G>C (p.Ala14Pro) c.85G>C (p.Ala29Pro) c.91G>C (p.Ala31Pro) c.70G>C (p.Ala24Pro) | |
10 | g.79559444C>T | CA377354335 | SFTPA2 | c.40G>A (p.Ala14Thr) c.85G>A (p.Ala29Thr) c.91G>A (p.Ala31Thr) c.70G>A (p.Ala24Thr) | |
10 | g.79559445C>A | CA377354336 | SFTPA2 | c.39G>T (p.Met13Ile) c.84G>T (p.Met28Ile) c.90G>T (p.Met30Ile) c.69G>T (p.Met23Ile) | |
10 | g.79559445C= | CA1922245567 | SFTPA2 | c.39G= (p.Met13=) c.84G= (p.Met28=) c.90G= (p.Met30=) c.69G= (p.Met23=) | |
10 | g.79559445C>G | CA377354339 | SFTPA2 | c.39G>C (p.Met13Ile) c.84G>C (p.Met28Ile) c.90G>C (p.Met30Ile) c.69G>C (p.Met23Ile) | |
10 | g.79559445C>T | CA377354337 | SFTPA2 | c.39G>A (p.Met13Ile) c.84G>A (p.Met28Ile) c.90G>A (p.Met30Ile) c.69G>A (p.Met23Ile) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559446A>C | CA377354341 | SFTPA2 | c.38T>G (p.Met13Arg) c.83T>G (p.Met28Arg) c.89T>G (p.Met30Arg) c.68T>G (p.Met23Arg) | |
10 | g.79559446A>G | CA377354343 | SFTPA2 | c.38T>C (p.Met13Thr) c.83T>C (p.Met28Thr) c.89T>C (p.Met30Thr) c.68T>C (p.Met23Thr) | gnomAD v4 |
10 | g.79559446A>T | CA377354346 | SFTPA2 | c.38T>A (p.Met13Lys) c.83T>A (p.Met28Lys) c.89T>A (p.Met30Lys) c.68T>A (p.Met23Lys) | |
10 | g.79559447T>A | CA377354349 | SFTPA2 | c.37A>T (p.Met13Leu) c.82A>T (p.Met28Leu) c.88A>T (p.Met30Leu) c.67A>T (p.Met23Leu) | |
10 | g.79559447T>C | CA377354350 | SFTPA2 | c.37A>G (p.Met13Val) c.82A>G (p.Met28Val) c.88A>G (p.Met30Val) c.67A>G (p.Met23Val) | gnomAD v4 |
10 | g.79559447T>G | CA377354353 | SFTPA2 | c.37A>C (p.Met13Leu) c.82A>C (p.Met28Leu) c.88A>C (p.Met30Leu) c.67A>C (p.Met23Leu) | gnomAD v4 |
10 | g.79559448C>A | CA377354356 | SFTPA2 | c.36G>T (p.Leu12Phe) c.81G>T (p.Leu27Phe) c.87G>T (p.Leu29Phe) c.66G>T (p.Leu22Phe) | |
10 | g.79559448C>G | CA377354358 | SFTPA2 | c.36G>C (p.Leu12Phe) c.81G>C (p.Leu27Phe) c.87G>C (p.Leu29Phe) c.66G>C (p.Leu22Phe) | |
10 | g.79559448C>T | CA470417678 | SFTPA2 | c.36G>A (p.Leu12=) c.81G>A (p.Leu27=) c.87G>A (p.Leu29=) c.66G>A (p.Leu22=) | COSMIC |
10 | g.79559449A= | CA1922245568 | SFTPA2 | c.35T= (p.Leu12=) c.80T= (p.Leu27=) c.86T= (p.Leu29=) c.65T= (p.Leu22=) | |
10 | g.79559449A>C | CA210251306 | SFTPA2 | c.35T>G (p.Leu12Trp) c.80T>G (p.Leu27Trp) c.86T>G (p.Leu29Trp) c.65T>G (p.Leu22Trp) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79559449A>G | CA377354361 | SFTPA2 | c.35T>C (p.Leu12Ser) c.80T>C (p.Leu27Ser) c.86T>C (p.Leu29Ser) c.65T>C (p.Leu22Ser) | gnomAD v4 |
10 | g.79559449A>T | CA377354364 | SFTPA2 | c.35T>A (p.Leu12Ter) c.80T>A (p.Leu27Ter) c.86T>A (p.Leu29Ter) c.65T>A (p.Leu22Ter) | |
10 | g.79559450A= | CA1922245569 | SFTPA2 | c.34T= (p.Leu12=) c.79T= (p.Leu27=) c.85T= (p.Leu29=) c.64T= (p.Leu22=) | |
10 | g.79559450A>C | CA377354369 | SFTPA2 | c.34T>G (p.Leu12Val) c.79T>G (p.Leu27Val) c.85T>G (p.Leu29Val) c.64T>G (p.Leu22Val) | |
10 | g.79559450A>G | CA470417680 | SFTPA2 | c.34T>C (p.Leu12=) c.79T>C (p.Leu27=) c.85T>C (p.Leu29=) c.64T>C (p.Leu22=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559450A>T | CA377354366 | SFTPA2 | c.34T>A (p.Leu12Met) c.79T>A (p.Leu27Met) c.85T>A (p.Leu29Met) c.64T>A (p.Leu22Met) | |
10 | g.79559451G>A | CA470417682 | SFTPA2 | c.33C>T (p.Ile11=) c.78C>T (p.Ile26=) c.84C>T (p.Ile28=) c.63C>T (p.Ile21=) | |
10 | g.79559451G>C | CA377354371 | SFTPA2 | c.33C>G (p.Ile11Met) c.78C>G (p.Ile26Met) c.84C>G (p.Ile28Met) c.63C>G (p.Ile21Met) | |
10 | g.79559451G>T | CA470417684 | SFTPA2 | c.33C>A (p.Ile11=) c.78C>A (p.Ile26=) c.84C>A (p.Ile28=) c.63C>A (p.Ile21=) | |
10 | g.79559452A>C | CA377354374 | SFTPA2 | c.32T>G (p.Ile11Ser) c.77T>G (p.Ile26Ser) c.83T>G (p.Ile28Ser) c.62T>G (p.Ile21Ser) | |
10 | g.79559452A>G | CA377354375 | SFTPA2 | c.32T>C (p.Ile11Thr) c.77T>C (p.Ile26Thr) c.83T>C (p.Ile28Thr) c.62T>C (p.Ile21Thr) | |
10 | g.79559452A>T | CA377354379 | SFTPA2 | c.32T>A (p.Ile11Asn) c.77T>A (p.Ile26Asn) c.83T>A (p.Ile28Asn) c.62T>A (p.Ile21Asn) | |
10 | g.79559453T>A | CA377354381 | SFTPA2 | c.31A>T (p.Ile11Phe) c.76A>T (p.Ile26Phe) c.82A>T (p.Ile28Phe) c.61A>T (p.Ile21Phe) | |
10 | g.79559453T>C | CA377354384 | SFTPA2 | c.31A>G (p.Ile11Val) c.76A>G (p.Ile26Val) c.82A>G (p.Ile28Val) c.61A>G (p.Ile21Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559453T>G | CA377354385 | SFTPA2 | c.31A>C (p.Ile11Leu) c.76A>C (p.Ile26Leu) c.82A>C (p.Ile28Leu) c.61A>C (p.Ile21Leu) | |
10 | g.79559453T= | CA1922245570 | SFTPA2 | c.31A= (p.Ile11=) c.76A= (p.Ile26=) c.82A= (p.Ile28=) c.61A= (p.Ile21=) | |
10 | g.79559454G>A | CA470417695 | SFTPA2 | c.30C>T (p.Leu10=) c.75C>T (p.Leu25=) c.81C>T (p.Leu27=) c.60C>T (p.Leu20=) | gnomAD v4 |
10 | g.79559454G>C | CA470417698 | SFTPA2 | c.30C>G (p.Leu10=) c.75C>G (p.Leu25=) c.81C>G (p.Leu27=) c.60C>G (p.Leu20=) | |
10 | g.79559454G>T | CA470417700 | SFTPA2 | c.30C>A (p.Leu10=) c.75C>A (p.Leu25=) c.81C>A (p.Leu27=) c.60C>A (p.Leu20=) | |
10 | g.79559455A= | CA1922245571 | SFTPA2 | c.29T= (p.Leu10=) c.74T= (p.Leu25=) c.80T= (p.Leu27=) c.59T= (p.Leu20=) | |
10 | g.79559455A>C | CA377354388 | SFTPA2 | c.29T>G (p.Leu10Arg) c.74T>G (p.Leu25Arg) c.80T>G (p.Leu27Arg) c.59T>G (p.Leu20Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79559455A>G | CA377354391 | SFTPA2 | c.29T>C (p.Leu10Pro) c.74T>C (p.Leu25Pro) c.80T>C (p.Leu27Pro) c.59T>C (p.Leu20Pro) | |
10 | g.79559455A>T | CA377354392 | SFTPA2 | c.29T>A (p.Leu10His) c.74T>A (p.Leu25His) c.80T>A (p.Leu27His) c.59T>A (p.Leu20His) | |
10 | g.79559456G>A | CA5574230 | SFTPA2 | c.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 |
10 | g.79559456G>C | CA377354395 | SFTPA2 | c.28C>G (p.Leu10Val) c.73C>G (p.Leu25Val) c.79C>G (p.Leu27Val) c.58C>G (p.Leu20Val) | dbSNP |
10 | g.79559456G= | CA1922245572 | SFTPA2 | c.28C= (p.Leu10=) c.73C= (p.Leu25=) c.79C= (p.Leu27=) c.58C= (p.Leu20=) | |
10 | g.79559456G>T | CA377354398 | SFTPA2 | c.28C>A (p.Leu10Ile) c.73C>A (p.Leu25Ile) c.79C>A (p.Leu27Ile) c.58C>A (p.Leu20Ile) | gnomAD v4 |
10 | g.79559458del | CA2609869156 | SFTPA2 | c.28del (p.Leu10SerfsTer3) c.73del (p.Leu25SerfsTer3) c.79del (p.Leu27SerfsTer3) c.58del (p.Leu20SerfsTer3) | gnomAD v4 |
10 | g.79559457G>A | CA470417714 | SFTPA2 | c.27C>T (p.Thr9=) c.72C>T (p.Thr24=) c.78C>T (p.Thr26=) c.57C>T (p.Thr19=) | COSMIC |
10 | g.79559457G>C | CA470417716 | SFTPA2 | c.27C>G (p.Thr9=) c.72C>G (p.Thr24=) c.78C>G (p.Thr26=) c.57C>G (p.Thr19=) | |
10 | g.79559457G>T | CA470417718 | SFTPA2 | c.27C>A (p.Thr9=) c.72C>A (p.Thr24=) c.78C>A (p.Thr26=) c.57C>A (p.Thr19=) | |
10 | g.79559458G>A | CA377354402 | SFTPA2 | c.26C>T (p.Thr9Ile) c.71C>T (p.Thr24Ile) c.77C>T (p.Thr26Ile) c.56C>T (p.Thr19Ile) | gnomAD v4 |
10 | g.79559458G>C | CA5574232 | SFTPA2 | c.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 |
10 | g.79559458G= | CA1922245573 | SFTPA2 | c.26C= (p.Thr9=) c.71C= (p.Thr24=) c.77C= (p.Thr26=) c.56C= (p.Thr19=) | |
10 | g.79559458G>T | CA5574231 | SFTPA2 | c.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 |
10 | g.79559459T>A | CA377354408 | SFTPA2 | c.25A>T (p.Thr9Ser) c.70A>T (p.Thr24Ser) c.76A>T (p.Thr26Ser) c.55A>T (p.Thr19Ser) | |
10 | g.79559459T>C | CA377354410 | SFTPA2 | c.25A>G (p.Thr9Ala) c.70A>G (p.Thr24Ala) c.76A>G (p.Thr26Ala) c.55A>G (p.Thr19Ala) | |
10 | g.79559459T>G | CA377354412 | SFTPA2 | c.25A>C (p.Thr9Pro) c.70A>C (p.Thr24Pro) c.76A>C (p.Thr26Pro) c.55A>C (p.Thr19Pro) | |
10 | g.79559460G>A | CA470417730 | SFTPA2 | c.24C>T (p.Leu8=) c.69C>T (p.Leu23=) c.75C>T (p.Leu25=) c.54C>T (p.Leu18=) | |
10 | g.79559460G>C | CA470417732 | SFTPA2 | c.24C>G (p.Leu8=) c.69C>G (p.Leu23=) c.75C>G (p.Leu25=) c.54C>G (p.Leu18=) | |
10 | g.79559460G>T | CA470417734 | SFTPA2 | c.24C>A (p.Leu8=) c.69C>A (p.Leu23=) c.75C>A (p.Leu25=) c.54C>A (p.Leu18=) | |
10 | g.79559461A>C | CA377354415 | SFTPA2 | c.23T>G (p.Leu8Arg) c.68T>G (p.Leu23Arg) c.74T>G (p.Leu25Arg) c.53T>G (p.Leu18Arg) | |
10 | g.79559461A>G | CA377354417 | SFTPA2 | c.23T>C (p.Leu8Pro) c.68T>C (p.Leu23Pro) c.74T>C (p.Leu25Pro) c.53T>C (p.Leu18Pro) | |
10 | g.79559461A>T | CA377354425 | SFTPA2 | c.23T>A (p.Leu8His) c.68T>A (p.Leu23His) c.74T>A (p.Leu25His) c.53T>A (p.Leu18His) | |
10 | g.79559462G>A | CA377354426 | SFTPA2 | c.22C>T (p.Leu8Phe) c.67C>T (p.Leu23Phe) c.73C>T (p.Leu25Phe) c.52C>T (p.Leu18Phe) | |
10 | g.79559462G>C | CA377354427 | SFTPA2 | c.22C>G (p.Leu8Val) c.67C>G (p.Leu23Val) c.73C>G (p.Leu25Val) c.52C>G (p.Leu18Val) | |
10 | g.79559462G>T | CA377354429 | SFTPA2 | c.22C>A (p.Leu8Ile) c.67C>A (p.Leu23Ile) c.73C>A (p.Leu25Ile) c.52C>A (p.Leu18Ile) |