Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.79557493A>CCA377353190SFTPA2c.463T>G (p.Cys155Gly)
c.514T>G (p.Cys172Gly)
c.493T>G (p.Cys165Gly)
10g.79557493A>GCA377353189SFTPA2c.463T>C (p.Cys155Arg)
c.514T>C (p.Cys172Arg)
c.493T>C (p.Cys165Arg)
10g.79557493A>TCA377353188SFTPA2c.463T>A (p.Cys155Ser)
c.514T>A (p.Cys172Ser)
c.493T>A (p.Cys165Ser)
10g.79557494T>ACA470414624SFTPA2c.462A>T (p.Ala154=)
c.513A>T (p.Ala171=)
c.492A>T (p.Ala164=)
10g.79557494T>CCA470414623SFTPA2c.462A>G (p.Ala154=)
c.513A>G (p.Ala171=)
c.492A>G (p.Ala164=)
10g.79557494T>GCA470414622SFTPA2c.462A>C (p.Ala154=)
c.513A>C (p.Ala171=)
c.492A>C (p.Ala164=)
10g.79557495G>ACA377353191SFTPA2c.461C>T (p.Ala154Val)
c.512C>T (p.Ala171Val)
c.491C>T (p.Ala164Val)
10g.79557495G>CCA377353192SFTPA2c.461C>G (p.Ala154Gly)
c.512C>G (p.Ala171Gly)
c.491C>G (p.Ala164Gly)
10g.79557495G>TCA377353193SFTPA2c.461C>A (p.Ala154Glu)
c.512C>A (p.Ala171Glu)
c.491C>A (p.Ala164Glu)
10g.79557496C>ACA377353194SFTPA2c.460G>T (p.Ala154Ser)
c.511G>T (p.Ala171Ser)
c.490G>T (p.Ala164Ser)
10g.79557496C=CA1922244430SFTPA2c.460G= (p.Ala154=)
c.511G= (p.Ala171=)
c.490G= (p.Ala164=)
10g.79557496C>GCA5574035SFTPA2c.460G>C (p.Ala154Pro)
c.511G>C (p.Ala171Pro)
c.490G>C (p.Ala164Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557496C>TCA377353195SFTPA2c.460G>A (p.Ala154Thr)
c.511G>A (p.Ala171Thr)
c.490G>A (p.Ala164Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.79557497C>ACA377353196SFTPA2c.459G>T (p.Glu153Asp)
c.510G>T (p.Glu170Asp)
c.489G>T (p.Glu163Asp)
10g.79557497C=CA1922244431SFTPA2c.459G= (p.Glu153=)
c.510G= (p.Glu170=)
c.489G= (p.Glu163=)
10g.79557497C>GCA377353197SFTPA2c.459G>C (p.Glu153Asp)
c.510G>C (p.Glu170Asp)
c.489G>C (p.Glu163Asp)
10g.79557497C>TCA470414625SFTPA2c.459G>A (p.Glu153=)
c.510G>A (p.Glu170=)
c.489G>A (p.Glu163=)
 dbSNP
10g.79557498T>ACA377353198SFTPA2c.458A>T (p.Glu153Val)
c.509A>T (p.Glu170Val)
c.488A>T (p.Glu163Val)
10g.79557498T>CCA377353199SFTPA2c.458A>G (p.Glu153Gly)
c.509A>G (p.Glu170Gly)
c.488A>G (p.Glu163Gly)
10g.79557498T>GCA377353200SFTPA2c.458A>C (p.Glu153Ala)
c.509A>C (p.Glu170Ala)
c.488A>C (p.Glu163Ala)
10g.79557499C>ACA377353203SFTPA2c.457G>T (p.Glu153Ter)
c.508G>T (p.Glu170Ter)
c.487G>T (p.Glu163Ter)
10g.79557499C>GCA377353202SFTPA2c.457G>C (p.Glu153Gln)
c.508G>C (p.Glu170Gln)
c.487G>C (p.Glu163Gln)
10g.79557499C>TCA377353201SFTPA2c.457G>A (p.Glu153Lys)
c.508G>A (p.Glu170Lys)
c.487G>A (p.Glu163Lys)
 gnomAD v4
10g.79557499_79557500insACA2609869149SFTPA2c.456_457insT (p.Glu153Ter)
c.507_508insT (p.Glu170Ter)
c.486_487insT (p.Glu163Ter)
 gnomAD v4
10g.79557500C>ACA377353204SFTPA2c.456G>T (p.Gln152His)
c.507G>T (p.Gln169His)
c.486G>T (p.Gln162His)
10g.79557500C=CA1922244432SFTPA2c.456G= (p.Gln152=)
c.507G= (p.Gln169=)
c.486G= (p.Gln162=)
10g.79557500C>GCA377353205SFTPA2c.456G>C (p.Gln152His)
c.507G>C (p.Gln169His)
c.486G>C (p.Gln162His)
10g.79557500C>TCA5574036SFTPA2c.456G>A (p.Gln152=)
c.507G>A (p.Gln169=)
c.486G>A (p.Gln162=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557501T>ACA377353206SFTPA2c.455A>T (p.Gln152Leu)
c.506A>T (p.Gln169Leu)
c.485A>T (p.Gln162Leu)
10g.79557501T>CCA5574037SFTPA2c.455A>G (p.Gln152Arg)
c.506A>G (p.Gln169Arg)
c.485A>G (p.Gln162Arg)
 dbSNP ExAC
10g.79557501T>GCA377353207SFTPA2c.455A>C (p.Gln152Pro)
c.506A>C (p.Gln169Pro)
c.485A>C (p.Gln162Pro)
10g.79557501T=CA1922244433SFTPA2c.455A= (p.Gln152=)
c.506A= (p.Gln169=)
c.485A= (p.Gln162=)
10g.79557502delCA2609869150SFTPA2c.454del (p.Gln152ArgfsTer27)
c.454del (p.Gln152ArgfsTer?)
c.505del (p.Gln169ArgfsTer27)
c.484del (p.Gln162ArgfsTer27)
 gnomAD v4
10g.79557502G>ACA377353208SFTPA2c.454C>T (p.Gln152Ter)
c.505C>T (p.Gln169Ter)
c.484C>T (p.Gln162Ter)
10g.79557502G>CCA377353209SFTPA2c.454C>G (p.Gln152Glu)
c.505C>G (p.Gln169Glu)
c.484C>G (p.Gln162Glu)
10g.79557502G>TCA377353210SFTPA2c.454C>A (p.Gln152Lys)
c.505C>A (p.Gln169Lys)
c.484C>A (p.Gln162Lys)
10g.79557503A>CCA377353211SFTPA2c.453T>G (p.Ile151Met)
c.504T>G (p.Ile168Met)
c.483T>G (p.Ile161Met)
10g.79557503A>GCA470414626SFTPA2c.453T>C (p.Ile151=)
c.504T>C (p.Ile168=)
c.483T>C (p.Ile161=)
10g.79557503A>TCA470414627SFTPA2c.453T>A (p.Ile151=)
c.504T>A (p.Ile168=)
c.483T>A (p.Ile161=)
10g.79557504A=CA1922244434SFTPA2c.452T= (p.Ile151=)
c.503T= (p.Ile168=)
c.482T= (p.Ile161=)
10g.79557504A>CCA377353212SFTPA2c.452T>G (p.Ile151Ser)
c.503T>G (p.Ile168Ser)
c.482T>G (p.Ile161Ser)
10g.79557504A>GCA210248380SFTPA2c.452T>C (p.Ile151Thr)
c.503T>C (p.Ile168Thr)
c.482T>C (p.Ile161Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.79557504A>TCA377353213SFTPA2c.452T>A (p.Ile151Asn)
c.503T>A (p.Ile168Asn)
c.482T>A (p.Ile161Asn)
10g.79557505T>ACA377353215SFTPA2c.451A>T (p.Ile151Phe)
c.502A>T (p.Ile168Phe)
c.481A>T (p.Ile161Phe)
10g.79557505T>CCA377353216SFTPA2c.451A>G (p.Ile151Val)
c.502A>G (p.Ile168Val)
c.481A>G (p.Ile161Val)
 gnomAD v4
10g.79557505T>GCA377353214SFTPA2c.451A>C (p.Ile151Leu)
c.502A>C (p.Ile168Leu)
c.481A>C (p.Ile161Leu)
10g.79557506G>ACA470414628SFTPA2c.450C>T (p.Ala150=)
c.501C>T (p.Ala167=)
c.480C>T (p.Ala160=)
10g.79557506G>CCA470414629SFTPA2c.450C>G (p.Ala150=)
c.501C>G (p.Ala167=)
c.480C>G (p.Ala160=)
10g.79557506G>TCA470414630SFTPA2c.450C>A (p.Ala150=)
c.501C>A (p.Ala167=)
c.480C>A (p.Ala160=)
10g.79557507G>ACA377353219SFTPA2c.449C>T (p.Ala150Val)
c.500C>T (p.Ala167Val)
c.479C>T (p.Ala160Val)
 dbSNP gnomAD v3 gnomAD v4
10g.79557507G>CCA377353217SFTPA2c.449C>G (p.Ala150Gly)
c.500C>G (p.Ala167Gly)
c.479C>G (p.Ala160Gly)
10g.79557507G=CA1922244435SFTPA2c.449C= (p.Ala150=)
c.500C= (p.Ala167=)
c.479C= (p.Ala160=)
10g.79557507G>TCA377353218SFTPA2c.449C>A (p.Ala150Asp)
c.500C>A (p.Ala167Asp)
c.479C>A (p.Ala160Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557508C>ACA377353220SFTPA2c.448G>T (p.Ala150Ser)
c.499G>T (p.Ala167Ser)
c.478G>T (p.Ala160Ser)
10g.79557508C>GCA377353221SFTPA2c.448G>C (p.Ala150Pro)
c.499G>C (p.Ala167Pro)
c.478G>C (p.Ala160Pro)
10g.79557508C>TCA377353222SFTPA2c.448G>A (p.Ala150Thr)
c.499G>A (p.Ala167Thr)
c.478G>A (p.Ala160Thr)
10g.79557509A>CCA377353223SFTPA2c.447T>G (p.Asp149Glu)
c.498T>G (p.Asp166Glu)
c.477T>G (p.Asp159Glu)
10g.79557509A>GCA470414631SFTPA2c.447T>C (p.Asp149=)
c.498T>C (p.Asp166=)
c.477T>C (p.Asp159=)
10g.79557509A>TCA377353224SFTPA2c.447T>A (p.Asp149Glu)
c.498T>A (p.Asp166Glu)
c.477T>A (p.Asp159Glu)
10g.79557510T>ACA377353225SFTPA2c.446A>T (p.Asp149Val)
c.497A>T (p.Asp166Val)
c.476A>T (p.Asp159Val)
 gnomAD v4
10g.79557510T>CCA377353226SFTPA2c.446A>G (p.Asp149Gly)
c.497A>G (p.Asp166Gly)
c.476A>G (p.Asp159Gly)
10g.79557510T>GCA377353227SFTPA2c.446A>C (p.Asp149Ala)
c.497A>C (p.Asp166Ala)
c.476A>C (p.Asp159Ala)
10g.79557511C>ACA377353228SFTPA2c.445G>T (p.Asp149Tyr)
c.496G>T (p.Asp166Tyr)
c.475G>T (p.Asp159Tyr)
 gnomAD v4
10g.79557511C>GCA377353229SFTPA2c.445G>C (p.Asp149His)
c.496G>C (p.Asp166His)
c.475G>C (p.Asp159His)
 gnomAD v4
10g.79557511C>TCA377353230SFTPA2c.445G>A (p.Asp149Asn)
c.496G>A (p.Asp166Asn)
c.475G>A (p.Asp159Asn)
10g.79557512A>CCA377353232SFTPA2c.444T>G (p.Phe148Leu)
c.495T>G (p.Phe165Leu)
c.474T>G (p.Phe158Leu)
10g.79557512A>GCA470414632SFTPA2c.444T>C (p.Phe148=)
c.495T>C (p.Phe165=)
c.474T>C (p.Phe158=)
10g.79557512A>TCA377353231SFTPA2c.444T>A (p.Phe148Leu)
c.495T>A (p.Phe165Leu)
c.474T>A (p.Phe158Leu)
 gnomAD v4
10g.79557513A=CA1922244436SFTPA2c.443T= (p.Phe148=)
c.494T= (p.Phe165=)
c.473T= (p.Phe158=)
10g.79557513A>CCA377353233SFTPA2c.443T>G (p.Phe148Cys)
c.494T>G (p.Phe165Cys)
c.473T>G (p.Phe158Cys)
10g.79557513A>GCA377353234SFTPA2c.443T>C (p.Phe148Ser)
c.494T>C (p.Phe165Ser)
c.473T>C (p.Phe158Ser)
 dbSNP gnomAD v4
10g.79557513A>TCA377353235SFTPA2c.443T>A (p.Phe148Tyr)
c.494T>A (p.Phe165Tyr)
c.473T>A (p.Phe158Tyr)
10g.79557514A>CCA377353236SFTPA2c.442T>G (p.Phe148Val)
c.493T>G (p.Phe165Val)
c.472T>G (p.Phe158Val)
10g.79557514A>GCA377353237SFTPA2c.442T>C (p.Phe148Leu)
c.493T>C (p.Phe165Leu)
c.472T>C (p.Phe158Leu)
10g.79557514A>TCA377353238SFTPA2c.442T>A (p.Phe148Ile)
c.493T>A (p.Phe165Ile)
c.472T>A (p.Phe158Ile)
10g.79557515A=CA1922244437SFTPA2c.441T= (p.Thr147=)
c.492T= (p.Thr164=)
c.471T= (p.Thr157=)
10g.79557515A>CCA470414635SFTPA2c.441T>G (p.Thr147=)
c.492T>G (p.Thr164=)
c.471T>G (p.Thr157=)
10g.79557515A>GCA470414634SFTPA2c.441T>C (p.Thr147=)
c.492T>C (p.Thr164=)
c.471T>C (p.Thr157=)
 dbSNP
10g.79557515A>TCA470414633SFTPA2c.441T>A (p.Thr147=)
c.492T>A (p.Thr164=)
c.471T>A (p.Thr157=)
10g.79557516_79557519delCA2609869152SFTPA2c.438_441del (p.Thr147LeufsTer?)
c.489_492del (p.Thr164LeufsTer?)
c.468_471del (p.Thr157LeufsTer?)
 gnomAD v4
10g.79557516G>ACA377353239SFTPA2c.440C>T (p.Thr147Ile)
c.491C>T (p.Thr164Ile)
c.470C>T (p.Thr157Ile)
10g.79557516G>CCA377353240SFTPA2c.440C>G (p.Thr147Ser)
c.491C>G (p.Thr164Ser)
c.470C>G (p.Thr157Ser)
10g.79557516G>TCA377353241SFTPA2c.440C>A (p.Thr147Asn)
c.491C>A (p.Thr164Asn)
c.470C>A (p.Thr157Asn)
 gnomAD v4
10g.79557517T>ACA377353242SFTPA2c.439A>T (p.Thr147Ser)
c.490A>T (p.Thr164Ser)
c.469A>T (p.Thr157Ser)
10g.79557517T>CCA377353243SFTPA2c.439A>G (p.Thr147Ala)
c.490A>G (p.Thr164Ala)
c.469A>G (p.Thr157Ala)
10g.79557517T>GCA377353244SFTPA2c.439A>C (p.Thr147Pro)
c.490A>C (p.Thr164Pro)
c.469A>C (p.Thr157Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.79557517T=CA1922244438SFTPA2c.439A= (p.Thr147=)
c.490A= (p.Thr164=)
c.469A= (p.Thr157=)
10g.79557518G>ACA470414636SFTPA2c.438C>T (p.Ile146=)
c.489C>T (p.Ile163=)
c.468C>T (p.Ile156=)
 gnomAD v4
10g.79557518G>CCA377353245SFTPA2c.438C>G (p.Ile146Met)
c.489C>G (p.Ile163Met)
c.468C>G (p.Ile156Met)
10g.79557518G=CA1922244439SFTPA2c.438C= (p.Ile146=)
c.489C= (p.Ile163=)
c.468C= (p.Ile156=)
10g.79557518G>TCA470414637SFTPA2c.438C>A (p.Ile146=)
c.489C>A (p.Ile163=)
c.468C>A (p.Ile156=)
 dbSNP gnomAD v3 gnomAD v4
10g.79557519A>CCA377353248SFTPA2c.437T>G (p.Ile146Ser)
c.488T>G (p.Ile163Ser)
c.467T>G (p.Ile156Ser)
10g.79557519A>GCA377353247SFTPA2c.437T>C (p.Ile146Thr)
c.488T>C (p.Ile163Thr)
c.467T>C (p.Ile156Thr)
10g.79557519A>TCA377353246SFTPA2c.437T>A (p.Ile146Asn)
c.488T>A (p.Ile163Asn)
c.467T>A (p.Ile156Asn)
10g.79557520T>ACA377353249SFTPA2c.436A>T (p.Ile146Phe)
c.487A>T (p.Ile163Phe)
c.466A>T (p.Ile156Phe)
10g.79557520T>CCA377353250SFTPA2c.436A>G (p.Ile146Val)
c.487A>G (p.Ile163Val)
c.466A>G (p.Ile156Val)
 gnomAD v4
10g.79557520T>GCA5574038SFTPA2c.436A>C (p.Ile146Leu)
c.487A>C (p.Ile163Leu)
c.466A>C (p.Ile156Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557520T=CA1922244440SFTPA2c.436A= (p.Ile146=)
c.487A= (p.Ile163=)
c.466A= (p.Ile156=)
10g.79557521G>ACA470414638SFTPA2c.435C>T (p.Ser145=)
c.486C>T (p.Ser162=)
c.465C>T (p.Ser155=)
 gnomAD v4
10g.79557521G>CCA470414640SFTPA2c.435C>G (p.Ser145=)
c.486C>G (p.Ser162=)
c.465C>G (p.Ser155=)
10g.79557521G>TCA470414639SFTPA2c.435C>A (p.Ser145=)
c.486C>A (p.Ser162=)
c.465C>A (p.Ser155=)
10g.79557522G>ACA377353251SFTPA2c.434C>T (p.Ser145Phe)
c.485C>T (p.Ser162Phe)
c.464C>T (p.Ser155Phe)
10g.79557522G>CCA377353252SFTPA2c.434C>G (p.Ser145Cys)
c.485C>G (p.Ser162Cys)
c.464C>G (p.Ser155Cys)
10g.79557522G>TCA377353253SFTPA2c.434C>A (p.Ser145Tyr)
c.485C>A (p.Ser162Tyr)
c.464C>A (p.Ser155Tyr)
10g.79557523A=CA1922244441SFTPA2c.433T= (p.Ser145=)
c.484T= (p.Ser162=)
c.463T= (p.Ser155=)
10g.79557523A>CCA377353256SFTPA2c.433T>G (p.Ser145Ala)
c.484T>G (p.Ser162Ala)
c.463T>G (p.Ser155Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.79557523A>GCA377353254SFTPA2c.433T>C (p.Ser145Pro)
c.484T>C (p.Ser162Pro)
c.463T>C (p.Ser155Pro)
 dbSNP gnomAD v4
10g.79557523A>TCA377353255SFTPA2c.433T>A (p.Ser145Thr)
c.484T>A (p.Ser162Thr)
c.463T>A (p.Ser155Thr)
10g.79557524_79557525insCAACCA2609869153SFTPA2c.433_434insTGGT (p.Ser145LeufsTer6)
c.484_485insTGGT (p.Ser162LeufsTer6)
c.463_464insTGGT (p.Ser155LeufsTer6)
 gnomAD v4
10g.79557524C>ACA377353257SFTPA2c.432G>T (p.Gln144His)
c.483G>T (p.Gln161His)
c.462G>T (p.Gln154His)
10g.79557524C>GCA377353258SFTPA2c.432G>C (p.Gln144His)
c.483G>C (p.Gln161His)
c.462G>C (p.Gln154His)
 gnomAD v4
10g.79557524C>TCA470414641SFTPA2c.432G>A (p.Gln144=)
c.483G>A (p.Gln161=)
c.462G>A (p.Gln154=)
 gnomAD v4
10g.79557525_79557528dupCA2609869154SFTPA2c.429_432dup (p.Ser145AlafsTer6)
c.480_483dup (p.Ser162AlafsTer6)
c.459_462dup (p.Ser155AlafsTer6)
 gnomAD v4
10g.79557525T>ACA377353259SFTPA2c.431A>T (p.Gln144Leu)
c.482A>T (p.Gln161Leu)
c.461A>T (p.Gln154Leu)
10g.79557525T>CCA377353260SFTPA2c.431A>G (p.Gln144Arg)
c.482A>G (p.Gln161Arg)
c.461A>G (p.Gln154Arg)
10g.79557525T>GCA377353261SFTPA2c.431A>C (p.Gln144Pro)
c.482A>C (p.Gln161Pro)
c.461A>C (p.Gln154Pro)
10g.79557526G>ACA377353262SFTPA2c.430C>T (p.Gln144Ter)
c.481C>T (p.Gln161Ter)
c.460C>T (p.Gln154Ter)
10g.79557526G>CCA377353264SFTPA2c.430C>G (p.Gln144Glu)
c.481C>G (p.Gln161Glu)
c.460C>G (p.Gln154Glu)
10g.79557526G>TCA377353263SFTPA2c.430C>A (p.Gln144Lys)
c.481C>A (p.Gln161Lys)
c.460C>A (p.Gln154Lys)
10g.79557527C>ACA470414642SFTPA2c.429G>T (p.Gly143=)
c.480G>T (p.Gly160=)
c.459G>T (p.Gly153=)
 dbSNP gnomAD v4
10g.79557527C=CA1922244442SFTPA2c.429G= (p.Gly143=)
c.480G= (p.Gly160=)
c.459G= (p.Gly153=)
10g.79557527C>GCA470414643SFTPA2c.429G>C (p.Gly143=)
c.480G>C (p.Gly160=)
c.459G>C (p.Gly153=)
10g.79557527C>TCA470414644SFTPA2c.429G>A (p.Gly143=)
c.480G>A (p.Gly160=)
c.459G>A (p.Gly153=)
 dbSNP
10g.79557528C>ACA377353265SFTPA2c.428G>T (p.Gly143Val)
c.479G>T (p.Gly160Val)
c.458G>T (p.Gly153Val)
10g.79557528C>GCA377353266SFTPA2c.428G>C (p.Gly143Ala)
c.479G>C (p.Gly160Ala)
c.458G>C (p.Gly153Ala)
10g.79557528C>TCA377353267SFTPA2c.428G>A (p.Gly143Glu)
c.479G>A (p.Gly160Glu)
c.458G>A (p.Gly153Glu)
10g.79557529C>ACA377353268SFTPA2c.427G>T (p.Gly143Trp)
c.478G>T (p.Gly160Trp)
c.457G>T (p.Gly153Trp)
10g.79557529C=CA1922244443SFTPA2c.427G= (p.Gly143=)
c.478G= (p.Gly160=)
c.457G= (p.Gly153=)
10g.79557529C>GCA377353269SFTPA2c.427G>C (p.Gly143Arg)
c.478G>C (p.Gly160Arg)
c.457G>C (p.Gly153Arg)
10g.79557529C>TCA377353270SFTPA2c.427G>A (p.Gly143Arg)
c.478G>A (p.Gly160Arg)
c.457G>A (p.Gly153Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.79557530A=CA1922244444SFTPA2c.426T= (p.Asn142=)
c.477T= (p.Asn159=)
c.456T= (p.Asn152=)
10g.79557530A>CCA377353271SFTPA2c.426T>G (p.Asn142Lys)
c.477T>G (p.Asn159Lys)
c.456T>G (p.Asn152Lys)
10g.79557530A>GCA210248395SFTPA2c.426T>C (p.Asn142=)
c.477T>C (p.Asn159=)
c.456T>C (p.Asn152=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557530A>TCA377353272SFTPA2c.426T>A (p.Asn142Lys)
c.477T>A (p.Asn159Lys)
c.456T>A (p.Asn152Lys)
10g.79557531T>ACA377353273SFTPA2c.425A>T (p.Asn142Ile)
c.476A>T (p.Asn159Ile)
c.455A>T (p.Asn152Ile)
 dbSNP gnomAD v4
10g.79557531T>CCA377353274SFTPA2c.425A>G (p.Asn142Ser)
c.476A>G (p.Asn159Ser)
c.455A>G (p.Asn152Ser)
 gnomAD v4
10g.79557531T>GCA377353275SFTPA2c.425A>C (p.Asn142Thr)
c.476A>C (p.Asn159Thr)
c.455A>C (p.Asn152Thr)
10g.79557531T=CA1922244445SFTPA2c.425A= (p.Asn142=)
c.476A= (p.Asn159=)
c.455A= (p.Asn152=)
10g.79557532T>ACA377353278SFTPA2c.424A>T (p.Asn142Tyr)
c.475A>T (p.Asn159Tyr)
c.454A>T (p.Asn152Tyr)
 gnomAD v4
10g.79557532T>CCA377353277SFTPA2c.424A>G (p.Asn142Asp)
c.475A>G (p.Asn159Asp)
c.454A>G (p.Asn152Asp)
 gnomAD v4
10g.79557532T>GCA377353276SFTPA2c.424A>C (p.Asn142His)
c.475A>C (p.Asn159His)
c.454A>C (p.Asn152His)
10g.79557533G>ACA470414645SFTPA2c.423C>T (p.Ser141=)
c.474C>T (p.Ser158=)
c.453C>T (p.Ser151=)
10g.79557533G>CCA377353279SFTPA2c.423C>G (p.Ser141Arg)
c.474C>G (p.Ser158Arg)
c.453C>G (p.Ser151Arg)
10g.79557533G>TCA377353280SFTPA2c.423C>A (p.Ser141Arg)
c.474C>A (p.Ser158Arg)
c.453C>A (p.Ser151Arg)
10g.79557534C>ACA377353281SFTPA2c.422G>T (p.Ser141Ile)
c.473G>T (p.Ser158Ile)
c.452G>T (p.Ser151Ile)
10g.79557534C>GCA377353282SFTPA2c.422G>C (p.Ser141Thr)
c.473G>C (p.Ser158Thr)
c.452G>C (p.Ser151Thr)
10g.79557534C>TCA377353283SFTPA2c.422G>A (p.Ser141Asn)
c.473G>A (p.Ser158Asn)
c.452G>A (p.Ser151Asn)
 gnomAD v4
10g.79557535T>ACA377353284SFTPA2c.421A>T (p.Ser141Cys)
c.472A>T (p.Ser158Cys)
c.451A>T (p.Ser151Cys)
10g.79557535T>CCA377353285SFTPA2c.421A>G (p.Ser141Gly)
c.472A>G (p.Ser158Gly)
c.451A>G (p.Ser151Gly)
10g.79557535T>GCA377353286SFTPA2c.421A>C (p.Ser141Arg)
c.472A>C (p.Ser158Arg)
c.451A>C (p.Ser151Arg)
 dbSNP gnomAD v4
10g.79557536G>ACA5574039SFTPA2c.420C>T (p.Ser140=)
c.471C>T (p.Ser157=)
c.450C>T (p.Ser150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557536G>CCA470414652SFTPA2c.420C>G (p.Ser140=)
c.471C>G (p.Ser157=)
c.450C>G (p.Ser150=)
 dbSNP
10g.79557536G=CA1630848393SFTPA2c.420C= (p.Ser140=)
c.471C= (p.Ser157=)
c.450C= (p.Ser150=)
10g.79557536G>TCA470414653SFTPA2c.420C>A (p.Ser140=)
c.471C>A (p.Ser157=)
c.450C>A (p.Ser150=)
10g.79557537G>ACA377353289SFTPA2c.419C>T (p.Ser140Phe)
c.470C>T (p.Ser157Phe)
c.449C>T (p.Ser150Phe)
 gnomAD v4
10g.79557537G>CCA377353287SFTPA2c.419C>G (p.Ser140Cys)
c.470C>G (p.Ser157Cys)
c.449C>G (p.Ser150Cys)
10g.79557537G>TCA377353288SFTPA2c.419C>A (p.Ser140Tyr)
c.470C>A (p.Ser157Tyr)
c.449C>A (p.Ser150Tyr)
10g.79557538delCA2609869155SFTPA2c.418del (p.Ser140ProfsTer?)
c.469del (p.Ser157ProfsTer?)
c.448del (p.Ser150ProfsTer?)
 gnomAD v4
10g.79557538A>CCA377353290SFTPA2c.418T>G (p.Ser140Ala)
c.469T>G (p.Ser157Ala)
c.448T>G (p.Ser150Ala)
10g.79557538A>GCA377353291SFTPA2c.418T>C (p.Ser140Pro)
c.469T>C (p.Ser157Pro)
c.448T>C (p.Ser150Pro)
10g.79557538A>TCA377353292SFTPA2c.418T>A (p.Ser140Thr)
c.469T>A (p.Ser157Thr)
c.448T>A (p.Ser150Thr)
10g.79557539G>ACA470414663SFTPA2c.417C>T (p.Phe139=)
c.468C>T (p.Phe156=)
c.447C>T (p.Phe149=)
 gnomAD v4
10g.79557539G>CCA377353293SFTPA2c.417C>G (p.Phe139Leu)
c.468C>G (p.Phe156Leu)
c.447C>G (p.Phe149Leu)
10g.79557539G>TCA377353294SFTPA2c.417C>A (p.Phe139Leu)
c.468C>A (p.Phe156Leu)
c.447C>A (p.Phe149Leu)
10g.79557540A=CA1922244446SFTPA2c.416T= (p.Phe139=)
c.467T= (p.Phe156=)
c.446T= (p.Phe149=)
10g.79557540A>CCA5574040SFTPA2c.416T>G (p.Phe139Cys)
c.467T>G (p.Phe156Cys)
c.446T>G (p.Phe149Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557540A>GCA377353296SFTPA2c.416T>C (p.Phe139Ser)
c.467T>C (p.Phe156Ser)
c.446T>C (p.Phe149Ser)
10g.79557540A>TCA377353295SFTPA2c.416T>A (p.Phe139Tyr)
c.467T>A (p.Phe156Tyr)
c.446T>A (p.Phe149Tyr)
10g.79557541A>CCA377353297SFTPA2c.415T>G (p.Phe139Val)
c.466T>G (p.Phe156Val)
c.445T>G (p.Phe149Val)
10g.79557541A>GCA377353298SFTPA2c.415T>C (p.Phe139Leu)
c.466T>C (p.Phe156Leu)
c.445T>C (p.Phe149Leu)
10g.79557541A>TCA377353299SFTPA2c.415T>A (p.Phe139Ile)
c.466T>A (p.Phe156Ile)
c.445T>A (p.Phe149Ile)
10g.79557542G>ACA470414676SFTPA2c.414C>T (p.Val138=)
c.465C>T (p.Val155=)
c.444C>T (p.Val148=)
 gnomAD v4
10g.79557542G>CCA470414678SFTPA2c.414C>G (p.Val138=)
c.465C>G (p.Val155=)
c.444C>G (p.Val148=)
10g.79557542G>TCA470414674SFTPA2c.414C>A (p.Val138=)
c.465C>A (p.Val155=)
c.444C>A (p.Val148=)
10g.79557543A>CCA377353300SFTPA2c.413T>G (p.Val138Gly)
c.464T>G (p.Val155Gly)
c.443T>G (p.Val148Gly)
10g.79557543A>GCA377353301SFTPA2c.413T>C (p.Val138Ala)
c.464T>C (p.Val155Ala)
c.443T>C (p.Val148Ala)
 dbSNP gnomAD v4
10g.79557543A>TCA377353302SFTPA2c.413T>A (p.Val138Asp)
c.464T>A (p.Val155Asp)
c.443T>A (p.Val148Asp)
 gnomAD v4
10g.79557544C>ACA377353303SFTPA2c.412G>T (p.Val138Phe)
c.463G>T (p.Val155Phe)
c.442G>T (p.Val148Phe)
10g.79557544C>GCA377353304SFTPA2c.412G>C (p.Val138Leu)
c.463G>C (p.Val155Leu)
c.442G>C (p.Val148Leu)
10g.79557544C>TCA377353305SFTPA2c.412G>A (p.Val138Ile)
c.463G>A (p.Val155Ile)
c.442G>A (p.Val148Ile)
 gnomAD v4
10g.79557545C>ACA377353306SFTPA2c.411G>T (p.Lys137Asn)
c.462G>T (p.Lys154Asn)
c.441G>T (p.Lys147Asn)
 gnomAD v4
10g.79557545C>GCA377353307SFTPA2c.411G>C (p.Lys137Asn)
c.462G>C (p.Lys154Asn)
c.441G>C (p.Lys147Asn)
10g.79557545C>TCA470414688SFTPA2c.411G>A (p.Lys137=)
c.462G>A (p.Lys154=)
c.441G>A (p.Lys147=)
 gnomAD v4
10g.79557547_79557549delCA2609869157SFTPA2c.409_411del (p.Lys137del)
c.460_462del (p.Lys154del)
c.439_441del (p.Lys147del)
 gnomAD v4
10g.79557546T>ACA377353308SFTPA2c.410A>T (p.Lys137Met)
c.461A>T (p.Lys154Met)
c.440A>T (p.Lys147Met)
 gnomAD v4
10g.79557546T>CCA377353310SFTPA2c.410A>G (p.Lys137Arg)
c.461A>G (p.Lys154Arg)
c.440A>G (p.Lys147Arg)
10g.79557546T>GCA377353309SFTPA2c.410A>C (p.Lys137Thr)
c.461A>C (p.Lys154Thr)
c.440A>C (p.Lys147Thr)
10g.79557547T>ACA377353311SFTPA2c.409A>T (p.Lys137Ter)
c.460A>T (p.Lys154Ter)
c.439A>T (p.Lys147Ter)
10g.79557547T>CCA377353312SFTPA2c.409A>G (p.Lys137Glu)
c.460A>G (p.Lys154Glu)
c.439A>G (p.Lys147Glu)
10g.79557547T>GCA377353313SFTPA2c.409A>C (p.Lys137Gln)
c.460A>C (p.Lys154Gln)
c.439A>C (p.Lys147Gln)
10g.79557548C>ACA377353314SFTPA2c.408G>T (p.Glu136Asp)
c.459G>T (p.Glu153Asp)
c.438G>T (p.Glu146Asp)
10g.79557548C>GCA377353315SFTPA2c.408G>C (p.Glu136Asp)
c.459G>C (p.Glu153Asp)
c.438G>C (p.Glu146Asp)
10g.79557548C>TCA470414699SFTPA2c.408G>A (p.Glu136=)
c.459G>A (p.Glu153=)
c.438G>A (p.Glu146=)
10g.79557549T>ACA377353316SFTPA2c.407A>T (p.Glu136Val)
c.458A>T (p.Glu153Val)
c.437A>T (p.Glu146Val)
10g.79557549T>CCA377353317SFTPA2c.407A>G (p.Glu136Gly)
c.458A>G (p.Glu153Gly)
c.437A>G (p.Glu146Gly)
 gnomAD v4
10g.79557549T>GCA377353318SFTPA2c.407A>C (p.Glu136Ala)
c.458A>C (p.Glu153Ala)
c.437A>C (p.Glu146Ala)
10g.79557550C>ACA377353319SFTPA2c.406G>T (p.Glu136Ter)
c.457G>T (p.Glu153Ter)
c.436G>T (p.Glu146Ter)
10g.79557550C=CA1922244447SFTPA2c.406G= (p.Glu136=)
c.457G= (p.Glu153=)
c.436G= (p.Glu146=)
10g.79557550C>GCA377353320SFTPA2c.406G>C (p.Glu136Gln)
c.457G>C (p.Glu153Gln)
c.436G>C (p.Glu146Gln)
10g.79557550C>TCA5574041SFTPA2c.406G>A (p.Glu136Lys)
c.457G>A (p.Glu153Lys)
c.436G>A (p.Glu146Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557551T>ACA470414709SFTPA2c.405A>T (p.Gly135=)
c.456A>T (p.Gly152=)
c.435A>T (p.Gly145=)
10g.79557551T>CCA470414711SFTPA2c.405A>G (p.Gly135=)
c.456A>G (p.Gly152=)
c.435A>G (p.Gly145=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557551T>GCA470414712SFTPA2c.405A>C (p.Gly135=)
c.456A>C (p.Gly152=)
c.435A>C (p.Gly145=)
10g.79557551T=CA1922244448SFTPA2c.405A= (p.Gly135=)
c.456A= (p.Gly152=)
c.435A= (p.Gly145=)
10g.79557551_79557552insAGCA2609869158SFTPA2c.404_405insCT (p.Glu136Ter)
c.455_456insCT (p.Glu153Ter)
c.434_435insCT (p.Glu146Ter)
 gnomAD v4
10g.79557552C>ACA377353322SFTPA2c.404G>T (p.Gly135Val)
c.455G>T (p.Gly152Val)
c.434G>T (p.Gly145Val)
10g.79557552C=CA1922244449SFTPA2c.404G= (p.Gly135=)
c.455G= (p.Gly152=)
c.434G= (p.Gly145=)
10g.79557552C>GCA210248420SFTPA2c.404G>C (p.Gly135Ala)
c.455G>C (p.Gly152Ala)
c.434G>C (p.Gly145Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.79557552C>TCA377353321SFTPA2c.404G>A (p.Gly135Glu)
c.455G>A (p.Gly152Glu)
c.434G>A (p.Gly145Glu)
 gnomAD v4
10g.79557553C>ACA377353323SFTPA2c.403G>T (p.Gly135Ter)
c.454G>T (p.Gly152Ter)
c.433G>T (p.Gly145Ter)
10g.79557553C=CA1922244450SFTPA2c.403G= (p.Gly135=)
c.454G= (p.Gly152=)
c.433G= (p.Gly145=)
10g.79557553C>GCA377353324SFTPA2c.403G>C (p.Gly135Arg)
c.454G>C (p.Gly152Arg)
c.433G>C (p.Gly145Arg)
 gnomAD v4
10g.79557553C>TCA210248421SFTPA2c.403G>A (p.Gly135Arg)
c.454G>A (p.Gly152Arg)
c.433G>A (p.Gly145Arg)
 dbSNP gnomAD v4
10g.79557555_79557557dupCA594711239SFTPA2c.401_403dup (p.Val134_Gly135insVal)
c.452_454dup (p.Val151_Gly152insVal)
c.431_433dup (p.Val144_Gly145insVal)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557554T>ACA470414723SFTPA2c.402A>T (p.Val134=)
c.453A>T (p.Val151=)
c.432A>T (p.Val144=)
10g.79557554T>CCA470414725SFTPA2c.402A>G (p.Val134=)
c.453A>G (p.Val151=)
c.432A>G (p.Val144=)
10g.79557554T>GCA470414727SFTPA2c.402A>C (p.Val134=)
c.453A>C (p.Val151=)
c.432A>C (p.Val144=)
10g.79557555A=CA1922244451SFTPA2c.401T= (p.Val134=)
c.452T= (p.Val151=)
c.431T= (p.Val144=)
10g.79557555A>CCA377353325SFTPA2c.401T>G (p.Val134Gly)
c.452T>G (p.Val151Gly)
c.431T>G (p.Val144Gly)
10g.79557555A>GCA5574042SFTPA2c.401T>C (p.Val134Ala)
c.452T>C (p.Val151Ala)
c.431T>C (p.Val144Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557555A>TCA377353326SFTPA2c.401T>A (p.Val134Glu)
c.452T>A (p.Val151Glu)
c.431T>A (p.Val144Glu)
10g.79557556C>ACA377353327SFTPA2c.400G>T (p.Val134Leu)
c.451G>T (p.Val151Leu)
c.430G>T (p.Val144Leu)
10g.79557556C=CA1922244452SFTPA2c.400G= (p.Val134=)
c.451G= (p.Val151=)
c.430G= (p.Val144=)
10g.79557556C>GCA377353328SFTPA2c.400G>C (p.Val134Leu)
c.451G>C (p.Val151Leu)
c.430G>C (p.Val144Leu)
10g.79557556C>TCA5574043SFTPA2c.400G>A (p.Val134Ile)
c.451G>A (p.Val151Ile)
c.430G>A (p.Val144Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557557T>ACA470414736SFTPA2c.399A>T (p.Thr133=)
c.450A>T (p.Thr150=)
c.429A>T (p.Thr143=)
10g.79557557T>CCA5574044SFTPA2c.399A>G (p.Thr133=)
c.450A>G (p.Thr150=)
c.429A>G (p.Thr143=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557557T>GCA470414739SFTPA2c.399A>C (p.Thr133=)
c.450A>C (p.Thr150=)
c.429A>C (p.Thr143=)
10g.79557557T=CA1922244453SFTPA2c.399A= (p.Thr133=)
c.450A= (p.Thr150=)
c.429A= (p.Thr143=)
10g.79557558G>ACA377353329SFTPA2c.398C>T (p.Thr133Ile)
c.449C>T (p.Thr150Ile)
c.428C>T (p.Thr143Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.79557558G>CCA377353330SFTPA2c.398C>G (p.Thr133Arg)
c.449C>G (p.Thr150Arg)
c.428C>G (p.Thr143Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.79557558G=CA1922244454SFTPA2c.398C= (p.Thr133=)
c.449C= (p.Thr150=)
c.428C= (p.Thr143=)
10g.79557558G>TCA377353331SFTPA2c.398C>A (p.Thr133Lys)
c.449C>A (p.Thr150Lys)
c.428C>A (p.Thr143Lys)
10g.79557559delCA2609869159SFTPA2c.397del (p.Thr133GlnfsTer2)
c.448del (p.Thr150GlnfsTer2)
c.427del (p.Thr143GlnfsTer2)
 gnomAD v4
10g.79557559T>ACA377353334SFTPA2c.397A>T (p.Thr133Ser)
c.448A>T (p.Thr150Ser)
c.427A>T (p.Thr143Ser)
10g.79557559T>CCA377353333SFTPA2c.397A>G (p.Thr133Ala)
c.448A>G (p.Thr150Ala)
c.427A>G (p.Thr143Ala)
 dbSNP
10g.79557559T>GCA377353332SFTPA2c.397A>C (p.Thr133Pro)
c.448A>C (p.Thr150Pro)
c.427A>C (p.Thr143Pro)
10g.79557559T=CA1922244455SFTPA2c.397A= (p.Thr133=)
c.448A= (p.Thr150=)
c.427A= (p.Thr143=)
10g.79557560C>ACA377353336SFTPA2c.396G>T (p.Met132Ile)
c.447G>T (p.Met149Ile)
c.426G>T (p.Met142Ile)
 gnomAD v4
10g.79557560C>GCA377353335SFTPA2c.396G>C (p.Met132Ile)
c.447G>C (p.Met149Ile)
c.426G>C (p.Met142Ile)
10g.79557560C>TCA377353337SFTPA2c.396G>A (p.Met132Ile)
c.447G>A (p.Met149Ile)
c.426G>A (p.Met142Ile)
10g.79557561A=CA1922244456SFTPA2c.395T= (p.Met132=)
c.446T= (p.Met149=)
c.425T= (p.Met142=)
10g.79557561A>CCA377353338SFTPA2c.395T>G (p.Met132Arg)
c.446T>G (p.Met149Arg)
c.425T>G (p.Met142Arg)
10g.79557561A>GCA210248434SFTPA2c.395T>C (p.Met132Thr)
c.446T>C (p.Met149Thr)
c.425T>C (p.Met142Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557561A>TCA377353339SFTPA2c.395T>A (p.Met132Lys)
c.446T>A (p.Met149Lys)
c.425T>A (p.Met142Lys)
10g.79557563_79557565delCA2609869160SFTPA2c.393_395del (p.Ile131del)
c.444_446del (p.Ile148del)
c.423_425del (p.Ile141del)
 gnomAD v4
10g.79557562T>ACA377353340SFTPA2c.394A>T (p.Met132Leu)
c.445A>T (p.Met149Leu)
c.424A>T (p.Met142Leu)
10g.79557562T>CCA377353341SFTPA2c.394A>G (p.Met132Val)
c.445A>G (p.Met149Val)
c.424A>G (p.Met142Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557562T>GCA377353342SFTPA2c.394A>C (p.Met132Leu)
c.445A>C (p.Met149Leu)
c.424A>C (p.Met142Leu)
10g.79557562T=CA1922244457SFTPA2c.394A= (p.Met132=)
c.445A= (p.Met149=)
c.424A= (p.Met142=)
10g.79557562_79557563delCA2609869161SFTPA2c.393_394del (p.Met132AspfsTer17)
c.444_445del (p.Met149AspfsTer17)
c.423_424del (p.Met142AspfsTer17)
 gnomAD v4
10g.79557563T>ACA470414758SFTPA2c.393A>T (p.Ile131=)
c.444A>T (p.Ile148=)
c.423A>T (p.Ile141=)
10g.79557563T>CCA377353343SFTPA2c.393A>G (p.Ile131Met)
c.444A>G (p.Ile148Met)
c.423A>G (p.Ile141Met)
10g.79557563T>GCA470414760SFTPA2c.393A>C (p.Ile131=)
c.444A>C (p.Ile148=)
c.423A>C (p.Ile141=)
 gnomAD v4
10g.79557564A=CA1922244458SFTPA2c.392T= (p.Ile131=)
c.443T= (p.Ile148=)
c.422T= (p.Ile141=)
10g.79557564A>CCA377353344SFTPA2c.392T>G (p.Ile131Arg)
c.443T>G (p.Ile148Arg)
c.422T>G (p.Ile141Arg)
10g.79557564A>GCA377353345SFTPA2c.392T>C (p.Ile131Thr)
c.443T>C (p.Ile148Thr)
c.422T>C (p.Ile141Thr)
10g.79557564A>TCA5574045SFTPA2c.392T>A (p.Ile131Lys)
c.443T>A (p.Ile148Lys)
c.422T>A (p.Ile141Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557565T>ACA377353346SFTPA2c.391A>T (p.Ile131Leu)
c.442A>T (p.Ile148Leu)
c.421A>T (p.Ile141Leu)
10g.79557565T>CCA377353347SFTPA2c.391A>G (p.Ile131Val)
c.442A>G (p.Ile148Val)
c.421A>G (p.Ile141Val)
 gnomAD v4
10g.79557565T>GCA377353348SFTPA2c.391A>C (p.Ile131Leu)
c.442A>C (p.Ile148Leu)
c.421A>C (p.Ile141Leu)
 dbSNP
10g.79557565T=CA1922244459SFTPA2c.391A= (p.Ile131=)
c.442A= (p.Ile148=)
c.421A= (p.Ile141=)
10g.79557566G>ACA5574046SFTPA2c.390C>T (p.Ser130=)
c.441C>T (p.Ser147=)
c.420C>T (p.Ser140=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557566G>CCA470414771SFTPA2c.390C>G (p.Ser130=)
c.441C>G (p.Ser147=)
c.420C>G (p.Ser140=)
10g.79557566G=CA1922244460SFTPA2c.390C= (p.Ser130=)
c.441C= (p.Ser147=)
c.420C= (p.Ser140=)
10g.79557566G>TCA470414773SFTPA2c.390C>A (p.Ser130=)
c.441C>A (p.Ser147=)
c.420C>A (p.Ser140=)
10g.79557567G>ACA377353349SFTPA2c.389C>T (p.Ser130Phe)
c.440C>T (p.Ser147Phe)
c.419C>T (p.Ser140Phe)
 gnomAD v4
10g.79557567G>CCA377353350SFTPA2c.389C>G (p.Ser130Cys)
c.440C>G (p.Ser147Cys)
c.419C>G (p.Ser140Cys)
 dbSNP
10g.79557567G=CA1922244461SFTPA2c.389C= (p.Ser130=)
c.440C= (p.Ser147=)
c.419C= (p.Ser140=)
10g.79557567G>TCA377353351SFTPA2c.389C>A (p.Ser130Tyr)
c.440C>A (p.Ser147Tyr)
c.419C>A (p.Ser140Tyr)
10g.79557568A>CCA377353352SFTPA2c.388T>G (p.Ser130Ala)
c.439T>G (p.Ser147Ala)
c.418T>G (p.Ser140Ala)
10g.79557568A>GCA377353353SFTPA2c.388T>C (p.Ser130Pro)
c.439T>C (p.Ser147Pro)
c.418T>C (p.Ser140Pro)
10g.79557568A>TCA377353354SFTPA2c.388T>A (p.Ser130Thr)
c.439T>A (p.Ser147Thr)
c.418T>A (p.Ser140Thr)
10g.79557569G>ACA470414787SFTPA2c.387C>T (p.Gly129=)
c.438C>T (p.Gly146=)
c.417C>T (p.Gly139=)
 dbSNP gnomAD v3 gnomAD v4
10g.79557569G>CCA470414788SFTPA2c.387C>G (p.Gly129=)
c.438C>G (p.Gly146=)
c.417C>G (p.Gly139=)
10g.79557569G=CA1922244462SFTPA2c.387C= (p.Gly129=)
c.438C= (p.Gly146=)
c.417C= (p.Gly139=)
10g.79557569G>TCA470414790SFTPA2c.387C>A (p.Gly129=)
c.438C>A (p.Gly146=)
c.417C>A (p.Gly139=)
10g.79557570C>ACA377353355SFTPA2c.386G>T (p.Gly129Val)
c.437G>T (p.Gly146Val)
c.416G>T (p.Gly139Val)
10g.79557570C=CA1922244463SFTPA2c.386G= (p.Gly129=)
c.437G= (p.Gly146=)
c.416G= (p.Gly139=)
10g.79557570C>GCA377353356SFTPA2c.386G>C (p.Gly129Ala)
c.437G>C (p.Gly146Ala)
c.416G>C (p.Gly139Ala)
10g.79557570C>TCA5574047SFTPA2c.386G>A (p.Gly129Asp)
c.437G>A (p.Gly146Asp)
c.416G>A (p.Gly139Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.79557571C>ACA377353357SFTPA2c.385G>T (p.Gly129Cys)
c.436G>T (p.Gly146Cys)
c.415G>T (p.Gly139Cys)
10g.79557571C>GCA377353358SFTPA2c.385G>C (p.Gly129Arg)
c.436G>C (p.Gly146Arg)
c.415G>C (p.Gly139Arg)
10g.79557571C>TCA377353359SFTPA2c.385G>A (p.Gly129Ser)
c.436G>A (p.Gly146Ser)
c.415G>A (p.Gly139Ser)
10g.79557572C>ACA377353360SFTPA2c.384G>T (p.Gln128His)
c.435G>T (p.Gln145His)
c.414G>T (p.Gln138His)
 gnomAD v4
10g.79557572C>GCA377353361SFTPA2c.384G>C (p.Gln128His)
c.435G>C (p.Gln145His)
c.414G>C (p.Gln138His)
10g.79557572C>TCA470414800SFTPA2c.384G>A (p.Gln128=)
c.435G>A (p.Gln145=)
c.414G>A (p.Gln138=)
 gnomAD v4
10g.79557573T>ACA377353362SFTPA2c.383A>T (p.Gln128Leu)
c.434A>T (p.Gln145Leu)
c.413A>T (p.Gln138Leu)
10g.79557573T>CCA377353364SFTPA2c.383A>G (p.Gln128Arg)
c.434A>G (p.Gln145Arg)
c.413A>G (p.Gln138Arg)
10g.79557573T>GCA377353363SFTPA2c.383A>C (p.Gln128Pro)
c.434A>C (p.Gln145Pro)
c.413A>C (p.Gln138Pro)
10g.79557574G>ACA5574048SFTPA2c.382C>T (p.Gln128Ter)
c.433C>T (p.Gln145Ter)
c.412C>T (p.Gln138Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.79557574G>CCA377353365SFTPA2c.382C>G (p.Gln128Glu)
c.433C>G (p.Gln145Glu)
c.412C>G (p.Gln138Glu)
10g.79557574G=CA1922244464SFTPA2c.382C= (p.Gln128=)
c.433C= (p.Gln145=)
c.412C= (p.Gln138=)
10g.79557574G>TCA377353366SFTPA2c.382C>A (p.Gln128Lys)
c.433C>A (p.Gln145Lys)
c.412C>A (p.Gln138Lys)
 COSMIC
10g.79557575C>ACA470414808SFTPA2c.381G>T (p.Leu127=)
c.432G>T (p.Leu144=)
c.411G>T (p.Leu137=)
10g.79557575C=CA1922244465SFTPA2c.381G= (p.Leu127=)
c.432G= (p.Leu144=)
c.411G= (p.Leu137=)
10g.79557575C>GCA470414810SFTPA2c.381G>C (p.Leu127=)
c.432G>C (p.Leu144=)
c.411G>C (p.Leu137=)
10g.79557575C>TCA470414812SFTPA2c.381G>A (p.Leu127=)
c.432G>A (p.Leu144=)
c.411G>A (p.Leu137=)
 dbSNP gnomAD v4
10g.79557576A>CCA377353367SFTPA2c.380T>G (p.Leu127Arg)
c.431T>G (p.Leu144Arg)
c.410T>G (p.Leu137Arg)
10g.79557576A>GCA377353368SFTPA2c.380T>C (p.Leu127Pro)
c.431T>C (p.Leu144Pro)
c.410T>C (p.Leu137Pro)
10g.79557576A>TCA377353369SFTPA2c.380T>A (p.Leu127Gln)
c.431T>A (p.Leu144Gln)
c.410T>A (p.Leu137Gln)
10g.79557577G>ACA470414819SFTPA2c.379C>T (p.Leu127=)
c.430C>T (p.Leu144=)
c.409C>T (p.Leu137=)
10g.79557577G>CCA377353370SFTPA2c.379C>G (p.Leu127Val)
c.430C>G (p.Leu144Val)
c.409C>G (p.Leu137Val)
10g.79557577G>TCA377353371SFTPA2c.379C>A (p.Leu127Met)
c.430C>A (p.Leu144Met)
c.409C>A (p.Leu137Met)
 gnomAD v4
10g.79557578A>CCA377353372SFTPA2c.378T>G (p.Ser126Arg)
c.429T>G (p.Ser143Arg)
c.408T>G (p.Ser136Arg)
10g.79557578A>GCA470414824SFTPA2c.378T>C (p.Ser126=)
c.429T>C (p.Ser143=)
c.408T>C (p.Ser136=)
10g.79557578A>TCA377353373SFTPA2c.378T>A (p.Ser126Arg)
c.429T>A (p.Ser143Arg)
c.408T>A (p.Ser136Arg)
10g.79557579C>ACA377353374SFTPA2c.377G>T (p.Ser126Ile)
c.428G>T (p.Ser143Ile)
c.407G>T (p.Ser136Ile)
10g.79557579C>GCA377353375SFTPA2c.377G>C (p.Ser126Thr)
c.428G>C (p.Ser143Thr)
c.407G>C (p.Ser136Thr)
10g.79557579C>TCA377353376SFTPA2c.377G>A (p.Ser126Asn)
c.428G>A (p.Ser143Asn)
c.407G>A (p.Ser136Asn)
10g.79557580T>ACA377353379SFTPA2c.376A>T (p.Ser126Cys)
c.427A>T (p.Ser143Cys)
c.406A>T (p.Ser136Cys)
10g.79557580T>CCA377353377SFTPA2c.376A>G (p.Ser126Gly)
c.427A>G (p.Ser143Gly)
c.406A>G (p.Ser136Gly)
10g.79557580T>GCA377353378SFTPA2c.376A>C (p.Ser126Arg)
c.427A>C (p.Ser143Arg)
c.406A>C (p.Ser136Arg)
10g.79557581G>ACA470414833SFTPA2c.375C>T (p.Leu125=)
c.426C>T (p.Leu142=)
c.405C>T (p.Leu135=)
10g.79557581G>CCA470414834SFTPA2c.375C>G (p.Leu125=)
c.426C>G (p.Leu142=)
c.405C>G (p.Leu135=)
 gnomAD v4
10g.79557581G>TCA470414836SFTPA2c.375C>A (p.Leu125=)
c.426C>A (p.Leu142=)
c.405C>A (p.Leu135=)
10g.79557582A>CCA377353380SFTPA2c.374T>G (p.Leu125Arg)
c.425T>G (p.Leu142Arg)
c.404T>G (p.Leu135Arg)
10g.79557582A>GCA377353381SFTPA2c.374T>C (p.Leu125Pro)
c.425T>C (p.Leu142Pro)
c.404T>C (p.Leu135Pro)
10g.79557582A>TCA377353382SFTPA2c.374T>A (p.Leu125His)
c.425T>A (p.Leu142His)
c.404T>A (p.Leu135His)
10g.79557583G>ACA377353383SFTPA2c.373C>T (p.Leu125Phe)
c.424C>T (p.Leu142Phe)
c.403C>T (p.Leu135Phe)
 gnomAD v4
10g.79557583G>CCA377353384SFTPA2c.373C>G (p.Leu125Val)
c.424C>G (p.Leu142Val)
c.403C>G (p.Leu135Val)
10g.79557583G>TCA377353385SFTPA2c.373C>A (p.Leu125Ile)
c.424C>A (p.Leu142Ile)
c.403C>A (p.Leu135Ile)
10g.79557584G>ACA470414850SFTPA2c.372C>T (p.Ala124=)
c.423C>T (p.Ala141=)
c.402C>T (p.Ala134=)
 gnomAD v4
10g.79557584G>CCA470414848SFTPA2c.372C>G (p.Ala124=)
c.423C>G (p.Ala141=)
c.402C>G (p.Ala134=)
 gnomAD v4
10g.79557584G>TCA470414845SFTPA2c.372C>A (p.Ala124=)
c.423C>A (p.Ala141=)
c.402C>A (p.Ala134=)
10g.79557585G>ACA377353386SFTPA2c.371C>T (p.Ala124Val)
c.422C>T (p.Ala141Val)
c.401C>T (p.Ala134Val)
 ClinVar gnomAD v4
10g.79557585G>CCA377353387SFTPA2c.371C>G (p.Ala124Gly)
c.422C>G (p.Ala141Gly)
c.401C>G (p.Ala134Gly)
10g.79557585G>TCA377353388SFTPA2c.371C>A (p.Ala124Asp)
c.422C>A (p.Ala141Asp)
c.401C>A (p.Ala134Asp)
10g.79557586C>ACA377353389SFTPA2c.371-1G>T (n.371-1G>T)
c.422-1G>T (n.422-1G>T)
c.401-1G>T (n.401-1G>T)
10g.79557586C=CA1922244466SFTPA2c.371-1G= (n.371-1G=)
c.422-1G= (n.422-1G=)
c.401-1G= (n.401-1G=)
10g.79557586C>GCA377353390SFTPA2c.371-1G>C (n.371-1G>C)
c.422-1G>C (n.422-1G>C)
c.401-1G>C (n.401-1G>C)
 gnomAD v4
10g.79557586C>TCA377353391SFTPA2c.371-1G>A (n.371-1G>A)
c.422-1G>A (n.422-1G>A)
c.401-1G>A (n.401-1G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.79557587T>ACA377353393SFTPA2c.371-2A>T (n.371-2A>T)
c.422-2A>T (n.422-2A>T)
c.401-2A>T (n.401-2A>T)
10g.79557587T>CCA377353394SFTPA2c.371-2A>G (n.371-2A>G)
c.422-2A>G (n.422-2A>G)
c.401-2A>G (n.401-2A>G)
10g.79557587T>GCA377353392SFTPA2c.371-2A>C (n.371-2A>C)
c.422-2A>C (n.422-2A>C)
c.401-2A>C (n.401-2A>C)
10g.79557590G>CCA1922244468SFTPA2c.371-5C>G (n.371-5C>G)
c.422-5C>G (n.422-5C>G)
c.401-5C>G (n.401-5C>G)
 dbSNP gnomAD v4
10g.79557590G=CA1922244467SFTPA2c.371-5C= (n.371-5C=)
c.422-5C= (n.422-5C=)
c.401-5C= (n.401-5C=)
10g.79557591A=CA1922244469SFTPA2c.371-6T= (n.371-6T=)
c.422-6T= (n.422-6T=)
c.401-6T= (n.401-6T=)
10g.79557591A>GCA2609869172SFTPA2c.371-6T>C (n.371-6T>C)
c.422-6T>C (n.422-6T>C)
c.401-6T>C (n.401-6T>C)
 gnomAD v4
10g.79557591A>TCA594711240SFTPA2c.371-6T>A (n.371-6T>A)
c.422-6T>A (n.422-6T>A)
c.401-6T>A (n.401-6T>A)
 dbSNP gnomAD v2 gnomAD v4
10g.79557592G>TCA2609869173SFTPA2c.371-7C>A (n.371-7C>A)
c.422-7C>A (n.422-7C>A)
c.401-7C>A (n.401-7C>A)
 gnomAD v4
10g.79557593C=CA1922244470SFTPA2c.371-8G= (n.371-8G=)
c.422-8G= (n.422-8G=)
c.401-8G= (n.401-8G=)
10g.79557593C>TCA594711241SFTPA2c.371-8G>A (n.371-8G>A)
c.422-8G>A (n.422-8G>A)
c.401-8G>A (n.401-8G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched