Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.85663417del	CA1266876902	SFTPB	c.932del (p.Asn311ThrfsTer?) c.968del (p.Asn323ThrfsTer?) c.909del n.132del c.63del c.920del (p.Asn307ThrfsTer?)	dbSNP gnomAD v4
2	g.85663417T>A	CA347487243	SFTPB	c.931A>T (p.Asn311Tyr) c.967A>T (p.Asn323Tyr) c.908A>T n.131A>T c.62A>T c.919A>T (p.Asn307Tyr)
2	g.85663417T>C	CA347487244	SFTPB	c.931A>G (p.Asn311Asp) c.967A>G (p.Asn323Asp) c.908A>G n.131A>G c.62A>G c.919A>G (p.Asn307Asp)
2	g.85663417T>G	CA347487245	SFTPB	c.931A>C (p.Asn311His) c.967A>C (p.Asn323His) c.908A>C n.131A>C c.62A>C c.919A>C (p.Asn307His)
2	g.85663418C>A	CA427080629	SFTPB	c.930G>T (p.Gly310=) c.966G>T (p.Gly322=) c.907G>T n.130G>T c.61G>T c.918G>T (p.Gly306=)
2	g.85663418C=	CA1266876903	SFTPB	c.930G= (p.Gly310=) c.966G= (p.Gly322=) c.907G= n.130G= c.61G= c.918G= (p.Gly306=)
2	g.85663418C>G	CA427080630	SFTPB	c.930G>C (p.Gly310=) c.966G>C (p.Gly322=) c.907G>C n.130G>C c.61G>C c.918G>C (p.Gly306=)
2	g.85663418C>T	CA427080631	SFTPB	c.930G>A (p.Gly310=) c.966G>A (p.Gly322=) c.907G>A n.130G>A c.61G>A c.918G>A (p.Gly306=)	dbSNP gnomAD v3 gnomAD v4
2	g.85663419C>A	CA347487246	SFTPB	c.929G>T (p.Gly310Val) c.965G>T (p.Gly322Val) c.906G>T n.129G>T c.60G>T c.917G>T (p.Gly306Val)
2	g.85663419C=	CA1266876905	SFTPB	c.929G= (p.Gly310=) c.965G= (p.Gly322=) c.906G= n.129G= c.60G= c.917G= (p.Gly306=)
2	g.85663419C>G	CA347487247	SFTPB	c.929G>C (p.Gly310Ala) c.965G>C (p.Gly322Ala) c.906G>C n.129G>C c.60G>C c.917G>C (p.Gly306Ala)
2	g.85663419C>T	CA347487248	SFTPB	c.929G>A (p.Gly310Glu) c.965G>A (p.Gly322Glu) c.906G>A n.129G>A c.60G>A c.917G>A (p.Gly306Glu)	dbSNP gnomAD v3 gnomAD v4
2	g.85663419_85663422delinsCCGG	CA1266876904	SFTPB	c.926_929delinsCCGG (p.Ala309=) c.962_965delinsCCGG (p.Ala321=) c.903_906delinsCCGG n.126_129delinsCCGG c.57_60delinsCCGG c.914_917delinsCCGG (p.Ala305=)
2	g.85663420C>A	CA347487250	SFTPB	c.928G>T (p.Gly310Trp) c.964G>T (p.Gly322Trp) c.905G>T n.128G>T c.59G>T c.916G>T (p.Gly306Trp)
2	g.85663420C=	CA1266876906	SFTPB	c.928G= (p.Gly310=) c.964G= (p.Gly322=) c.905G= n.128G= c.59G= c.916G= (p.Gly306=)
2	g.85663420C>G	CA347487251	SFTPB	c.928G>C (p.Gly310Arg) c.964G>C (p.Gly322Arg) c.905G>C n.128G>C c.59G>C c.916G>C (p.Gly306Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663420C>T	CA1743859	SFTPB	c.928G>A (p.Gly310Arg) c.964G>A (p.Gly322Arg) c.905G>A n.128G>A c.59G>A c.916G>A (p.Gly306Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.85663421_85663423del	CA534183675	SFTPB	c.926_928del (p.Ala309del) c.962_964del (p.Ala321del) c.903_905del n.126_128del c.57_59del c.914_916del (p.Ala305del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663421G>A	CA427080634	SFTPB	c.927C>T (p.Ala309=) c.963C>T (p.Ala321=) c.904C>T n.127C>T c.58C>T c.915C>T (p.Ala305=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.85663421G>C	CA427080633	SFTPB	c.927C>G (p.Ala309=) c.963C>G (p.Ala321=) c.904C>G n.127C>G c.58C>G c.915C>G (p.Ala305=)
2	g.85663421G=	CA1266876907	SFTPB	c.927C= (p.Ala309=) c.963C= (p.Ala321=) c.904C= n.127C= c.58C= c.915C= (p.Ala305=)
2	g.85663421G>T	CA427080632	SFTPB	c.927C>A (p.Ala309=) c.963C>A (p.Ala321=) c.904C>A n.127C>A c.58C>A c.915C>A (p.Ala305=)	COSMIC COSMIC
2	g.85663422G>A	CA347487252	SFTPB	c.926C>T (p.Ala309Val) c.962C>T (p.Ala321Val) c.903C>T n.126C>T c.57C>T c.914C>T (p.Ala305Val)	gnomAD v4
2	g.85663422G>C	CA347487254	SFTPB	c.926C>G (p.Ala309Gly) c.962C>G (p.Ala321Gly) c.903C>G n.126C>G c.57C>G c.914C>G (p.Ala305Gly)
2	g.85663422G>T	CA347487253	SFTPB	c.926C>A (p.Ala309Asp) c.962C>A (p.Ala321Asp) c.903C>A n.126C>A c.57C>A c.914C>A (p.Ala305Asp)	gnomAD v4
2	g.85663423C>A	CA347487255	SFTPB	c.925G>T (p.Ala309Ser) c.961G>T (p.Ala321Ser) c.902G>T n.125G>T c.56G>T c.913G>T (p.Ala305Ser)
2	g.85663423C>G	CA347487256	SFTPB	c.925G>C (p.Ala309Pro) c.961G>C (p.Ala321Pro) c.902G>C n.125G>C c.56G>C c.913G>C (p.Ala305Pro)
2	g.85663423C>T	CA347487257	SFTPB	c.925G>A (p.Ala309Thr) c.961G>A (p.Ala321Thr) c.902G>A n.125G>A c.56G>A c.913G>A (p.Ala305Thr)
2	g.85663424C>A	CA347487258	SFTPB	c.924G>T (p.Gln308His) c.960G>T (p.Gln320His) c.901G>T n.124G>T c.55G>T c.912G>T (p.Gln304His)
2	g.85663424C>G	CA347487260	SFTPB	c.924G>C (p.Gln308His) c.960G>C (p.Gln320His) c.901G>C n.124G>C c.55G>C c.912G>C (p.Gln304His)
2	g.85663424C>T	CA427080638	SFTPB	c.924G>A (p.Gln308=) c.960G>A (p.Gln320=) c.901G>A n.124G>A c.55G>A c.912G>A (p.Gln304=)	gnomAD v4
2	g.85663425T>A	CA347487263	SFTPB	c.923A>T (p.Gln308Leu) c.959A>T (p.Gln320Leu) c.900A>T n.123A>T c.54A>T c.911A>T (p.Gln304Leu)
2	g.85663425T>C	CA347487264	SFTPB	c.923A>G (p.Gln308Arg) c.959A>G (p.Gln320Arg) c.900A>G n.123A>G c.54A>G c.911A>G (p.Gln304Arg)
2	g.85663425T>G	CA347487266	SFTPB	c.923A>C (p.Gln308Pro) c.959A>C (p.Gln320Pro) c.900A>C n.123A>C c.54A>C c.911A>C (p.Gln304Pro)	dbSNP
2	g.85663425T=	CA1266876908	SFTPB	c.923A= (p.Gln308=) c.959A= (p.Gln320=) c.900A= n.123A= c.54A= c.911A= (p.Gln304=)
2	g.85663426_85663432del	CA2577022200	SFTPB	c.917_923del (p.Thr306ArgfsTer?) c.953_959del (p.Thr318ArgfsTer?) c.894_900del n.117_123del c.48_54del c.905_911del (p.Thr302ArgfsTer?)	gnomAD v4
2	g.85663426G>A	CA1743860	SFTPB	c.922C>T (p.Gln308Ter) c.958C>T (p.Gln320Ter) c.899C>T n.122C>T c.53C>T c.910C>T (p.Gln304Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.85663426G>C	CA347487270	SFTPB	c.922C>G (p.Gln308Glu) c.958C>G (p.Gln320Glu) c.899C>G n.122C>G c.53C>G c.910C>G (p.Gln304Glu)
2	g.85663426G=	CA1266876909	SFTPB	c.922C= (p.Gln308=) c.958C= (p.Gln320=) c.899C= n.122C= c.53C= c.910C= (p.Gln304=)
2	g.85663426G>T	CA347487271	SFTPB	c.922C>A (p.Gln308Lys) c.958C>A (p.Gln320Lys) c.899C>A n.122C>A c.53C>A c.910C>A (p.Gln304Lys)
2	g.85663426_85663446delinsGGGTGGTCACGGACATGCAGA	CA1266876910	SFTPB	c.902_922delinsTCTGCATGTCCGTGACCACCC (p.Leu301=) c.938_958delinsTCTGCATGTCCGTGACCACCC (p.Leu313=) c.879_899delinsTCTGCATGTCCGTGACCACCC n.102_122delinsTCTGCATGTCCGTGACCACCC c.33_53delinsTCTGCATGTCCGTGACCACCC c.890_910delinsTCTGCATGTCCGTGACCACCC (p.Leu297=)
2	g.85663427G>A	CA427080643	SFTPB	c.921C>T (p.Thr307=) c.957C>T (p.Thr319=) c.898C>T n.121C>T c.52C>T c.909C>T (p.Thr303=)
2	g.85663427G>C	CA427080642	SFTPB	c.921C>G (p.Thr307=) c.957C>G (p.Thr319=) c.898C>G n.121C>G c.52C>G c.909C>G (p.Thr303=)
2	g.85663427G=	CA1266876911	SFTPB	c.921C= (p.Thr307=) c.957C= (p.Thr319=) c.898C= n.121C= c.52C= c.909C= (p.Thr303=)
2	g.85663427G>T	CA427080641	SFTPB	c.921C>A (p.Thr307=) c.957C>A (p.Thr319=) c.898C>A n.121C>A c.52C>A c.909C>A (p.Thr303=)	dbSNP gnomAD v3 gnomAD v4
2	g.85663432_85663451del	CA534183676	SFTPB	c.902_921del (p.Leu301ProfsTer?) c.938_957del (p.Leu313ProfsTer?) c.879_898del n.102_121del c.33_52del c.890_909del (p.Leu297ProfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663428G>A	CA347487276	SFTPB	c.920C>T (p.Thr307Ile) c.956C>T (p.Thr319Ile) c.897C>T n.120C>T c.51C>T c.908C>T (p.Thr303Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663428G>C	CA347487273	SFTPB	c.920C>G (p.Thr307Ser) c.956C>G (p.Thr319Ser) c.897C>G n.120C>G c.51C>G c.908C>G (p.Thr303Ser)
2	g.85663428G=	CA1266876912	SFTPB	c.920C= (p.Thr307=) c.956C= (p.Thr319=) c.897C= n.120C= c.51C= c.908C= (p.Thr303=)
2	g.85663428G>T	CA347487274	SFTPB	c.920C>A (p.Thr307Asn) c.956C>A (p.Thr319Asn) c.897C>A n.120C>A c.51C>A c.908C>A (p.Thr303Asn)
2	g.85663429T>A	CA347487278	SFTPB	c.919A>T (p.Thr307Ser) c.955A>T (p.Thr319Ser) c.896A>T n.119A>T c.50A>T c.907A>T (p.Thr303Ser)
2	g.85663429T>C	CA347487280	SFTPB	c.919A>G (p.Thr307Ala) c.955A>G (p.Thr319Ala) c.896A>G n.119A>G c.50A>G c.907A>G (p.Thr303Ala)
2	g.85663429T>G	CA347487283	SFTPB	c.919A>C (p.Thr307Pro) c.955A>C (p.Thr319Pro) c.896A>C n.119A>C c.50A>C c.907A>C (p.Thr303Pro)
2	g.85663430G>A	CA1743861	SFTPB	c.918C>T (p.Thr306=) c.954C>T (p.Thr318=) c.895C>T n.118C>T c.49C>T c.906C>T (p.Thr302=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663430G>C	CA427080649	SFTPB	c.918C>G (p.Thr306=) c.954C>G (p.Thr318=) c.895C>G n.118C>G c.49C>G c.906C>G (p.Thr302=)
2	g.85663430G=	CA1266876913	SFTPB	c.918C= (p.Thr306=) c.954C= (p.Thr318=) c.895C= n.118C= c.49C= c.906C= (p.Thr302=)
2	g.85663430G>T	CA427080648	SFTPB	c.918C>A (p.Thr306=) c.954C>A (p.Thr318=) c.895C>A n.118C>A c.49C>A c.906C>A (p.Thr302=)
2	g.85663431G>A	CA347487284	SFTPB	c.917C>T (p.Thr306Ile) c.953C>T (p.Thr318Ile) c.894C>T n.117C>T c.48C>T c.905C>T (p.Thr302Ile)
2	g.85663431G>C	CA347487286	SFTPB	c.917C>G (p.Thr306Ser) c.953C>G (p.Thr318Ser) c.894C>G n.117C>G c.48C>G c.905C>G (p.Thr302Ser)
2	g.85663431G>T	CA347487287	SFTPB	c.917C>A (p.Thr306Asn) c.953C>A (p.Thr318Asn) c.894C>A n.117C>A c.48C>A c.905C>A (p.Thr302Asn)
2	g.85663432T>A	CA347487289	SFTPB	c.916A>T (p.Thr306Ser) c.952A>T (p.Thr318Ser) c.893A>T n.116A>T c.47A>T c.904A>T (p.Thr302Ser)
2	g.85663432T>C	CA347487291	SFTPB	c.916A>G (p.Thr306Ala) c.952A>G (p.Thr318Ala) c.893A>G n.116A>G c.47A>G c.904A>G (p.Thr302Ala)
2	g.85663432T>G	CA347487293	SFTPB	c.916A>C (p.Thr306Pro) c.952A>C (p.Thr318Pro) c.893A>C n.116A>C c.47A>C c.904A>C (p.Thr302Pro)
2	g.85663433C>A	CA427080656	SFTPB	c.915G>T (p.Val305=) c.951G>T (p.Val317=) c.892G>T n.115G>T c.46G>T c.903G>T (p.Val301=)
2	g.85663433C>G	CA427080655	SFTPB	c.915G>C (p.Val305=) c.951G>C (p.Val317=) c.892G>C n.115G>C c.46G>C c.903G>C (p.Val301=)
2	g.85663433C>T	CA427080654	SFTPB	c.915G>A (p.Val305=) c.951G>A (p.Val317=) c.892G>A n.115G>A c.46G>A c.903G>A (p.Val301=)
2	g.85663434A>C	CA347487301	SFTPB	c.914T>G (p.Val305Gly) c.950T>G (p.Val317Gly) c.891T>G n.114T>G c.45T>G c.902T>G (p.Val301Gly)
2	g.85663434A>G	CA347487298	SFTPB	c.914T>C (p.Val305Ala) c.950T>C (p.Val317Ala) c.891T>C n.114T>C c.45T>C c.902T>C (p.Val301Ala)
2	g.85663434A>T	CA347487296	SFTPB	c.914T>A (p.Val305Glu) c.950T>A (p.Val317Glu) c.891T>A n.114T>A c.45T>A c.902T>A (p.Val301Glu)
2	g.85663435C>A	CA347487303	SFTPB	c.913G>T (p.Val305Leu) c.949G>T (p.Val317Leu) c.890G>T n.113G>T c.44G>T c.901G>T (p.Val301Leu)
2	g.85663435C=	CA1266876914	SFTPB	c.913G= (p.Val305=) c.949G= (p.Val317=) c.890G= n.113G= c.44G= c.901G= (p.Val301=)
2	g.85663435C>G	CA347487305	SFTPB	c.913G>C (p.Val305Leu) c.949G>C (p.Val317Leu) c.890G>C n.113G>C c.44G>C c.901G>C (p.Val301Leu)
2	g.85663435C>T	CA1743862	SFTPB	c.913G>A (p.Val305Met) c.949G>A (p.Val317Met) c.890G>A n.113G>A c.44G>A c.901G>A (p.Val301Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.85663435_85663436del	CA2659874535	SFTPB	c.912_913del (p.Val305AspfsTer?) c.948_949del (p.Val317AspfsTer?) c.889_890del n.112_113del c.43_44del c.900_901del (p.Val301AspfsTer?)	gnomAD v4
2	g.85663436G>A	CA1743863	SFTPB	c.912C>T (p.Ser304=) c.948C>T (p.Ser316=) c.889C>T n.112C>T c.43C>T c.900C>T (p.Ser300=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.85663436G>C	CA427080658	SFTPB	c.912C>G (p.Ser304=) c.948C>G (p.Ser316=) c.889C>G n.112C>G c.43C>G c.900C>G (p.Ser300=)	gnomAD v4
2	g.85663436G=	CA1266876915	SFTPB	c.912C= (p.Ser304=) c.948C= (p.Ser316=) c.889C= n.112C= c.43C= c.900C= (p.Ser300=)
2	g.85663436G>T	CA427080660	SFTPB	c.912C>A (p.Ser304=) c.948C>A (p.Ser316=) c.889C>A n.112C>A c.43C>A c.900C>A (p.Ser300=)
2	g.85663437G>A	CA347487309	SFTPB	c.911C>T (p.Ser304Phe) c.947C>T (p.Ser316Phe) c.888C>T n.111C>T c.42C>T c.899C>T (p.Ser300Phe)
2	g.85663437G>C	CA347487311	SFTPB	c.911C>G (p.Ser304Cys) c.947C>G (p.Ser316Cys) c.888C>G n.111C>G c.42C>G c.899C>G (p.Ser300Cys)
2	g.85663437G>T	CA347487313	SFTPB	c.911C>A (p.Ser304Tyr) c.947C>A (p.Ser316Tyr) c.888C>A n.111C>A c.42C>A c.899C>A (p.Ser300Tyr)
2	g.85663438A>C	CA347487315	SFTPB	c.910T>G (p.Ser304Ala) c.946T>G (p.Ser316Ala) c.887T>G n.110T>G c.41T>G c.898T>G (p.Ser300Ala)
2	g.85663438A>G	CA347487318	SFTPB	c.910T>C (p.Ser304Pro) c.946T>C (p.Ser316Pro) c.887T>C n.110T>C c.41T>C c.898T>C (p.Ser300Pro)
2	g.85663438A>T	CA347487319	SFTPB	c.910T>A (p.Ser304Thr) c.946T>A (p.Ser316Thr) c.887T>A n.110T>A c.41T>A c.898T>A (p.Ser300Thr)
2	g.85663438_85663439insGTCT	CA2659874536	SFTPB	c.909_910insAGAC (p.Ser304ArgfsTer?) c.945_946insAGAC (p.Ser316ArgfsTer?) c.886_887insAGAC n.109_110insAGAC c.40_41insAGAC c.897_898insAGAC (p.Ser300ArgfsTer?)	gnomAD v4
2	g.85663439C>A	CA347487321	SFTPB	c.909G>T (p.Met303Ile) c.945G>T (p.Met315Ile) c.886G>T n.109G>T c.40G>T c.897G>T (p.Met299Ile)
2	g.85663439C>G	CA347487322	SFTPB	c.909G>C (p.Met303Ile) c.945G>C (p.Met315Ile) c.886G>C n.109G>C c.40G>C c.897G>C (p.Met299Ile)
2	g.85663439C>T	CA347487324	SFTPB	c.909G>A (p.Met303Ile) c.945G>A (p.Met315Ile) c.886G>A n.109G>A c.40G>A c.897G>A (p.Met299Ile)
2	g.85663440A=	CA1266876916	SFTPB	c.908T= (p.Met303=) c.944T= (p.Met315=) c.885T= n.108T= c.39T= c.896T= (p.Met299=)
2	g.85663440A>C	CA347487327	SFTPB	c.908T>G (p.Met303Arg) c.944T>G (p.Met315Arg) c.885T>G n.108T>G c.39T>G c.896T>G (p.Met299Arg)
2	g.85663440A>G	CA347487332	SFTPB	c.908T>C (p.Met303Thr) c.944T>C (p.Met315Thr) c.885T>C n.108T>C c.39T>C c.896T>C (p.Met299Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.85663440A>T	CA347487328	SFTPB	c.908T>A (p.Met303Lys) c.944T>A (p.Met315Lys) c.885T>A n.108T>A c.39T>A c.896T>A (p.Met299Lys)	gnomAD v4
2	g.85663440_85663441del	CA2659874537	SFTPB	c.907_908del (p.Met303ValfsTer?) c.943_944del (p.Met315ValfsTer?) c.884_885del n.107_108del c.38_39del c.895_896del (p.Met299ValfsTer?)	gnomAD v4
2	g.85663441T>A	CA347487334	SFTPB	c.907A>T (p.Met303Leu) c.943A>T (p.Met315Leu) c.884A>T n.107A>T c.38A>T c.895A>T (p.Met299Leu)
2	g.85663441T>C	CA347487336	SFTPB	c.907A>G (p.Met303Val) c.943A>G (p.Met315Val) c.884A>G n.107A>G c.38A>G c.895A>G (p.Met299Val)
2	g.85663441T>G	CA347487338	SFTPB	c.907A>C (p.Met303Leu) c.943A>C (p.Met315Leu) c.884A>C n.107A>C c.38A>C c.895A>C (p.Met299Leu)
2	g.85663442G>A	CA427080668	SFTPB	c.906C>T (p.Cys302=) c.942C>T (p.Cys314=) c.883C>T n.106C>T c.37C>T c.894C>T (p.Cys298=)
2	g.85663442G>C	CA347487340	SFTPB	c.906C>G (p.Cys302Trp) c.942C>G (p.Cys314Trp) c.883C>G n.106C>G c.37C>G c.894C>G (p.Cys298Trp)
2	g.85663442G>T	CA347487342	SFTPB	c.906C>A (p.Cys302Ter) c.942C>A (p.Cys314Ter) c.883C>A n.106C>A c.37C>A c.894C>A (p.Cys298Ter)
2	g.85663443C>A	CA347487344	SFTPB	c.905G>T (p.Cys302Phe) c.941G>T (p.Cys314Phe) c.882G>T n.105G>T c.36G>T c.893G>T (p.Cys298Phe)
2	g.85663443C>G	CA347487347	SFTPB	c.905G>C (p.Cys302Ser) c.941G>C (p.Cys314Ser) c.882G>C n.105G>C c.36G>C c.893G>C (p.Cys298Ser)	gnomAD v4
2	g.85663443C>T	CA347487349	SFTPB	c.905G>A (p.Cys302Tyr) c.941G>A (p.Cys314Tyr) c.882G>A n.105G>A c.36G>A c.893G>A (p.Cys298Tyr)
2	g.85663444A>C	CA347487352	SFTPB	c.904T>G (p.Cys302Gly) c.940T>G (p.Cys314Gly) c.881T>G n.104T>G c.35T>G c.892T>G (p.Cys298Gly)	ClinVar gnomAD v4
2	g.85663444A>G	CA347487354	SFTPB	c.904T>C (p.Cys302Arg) c.940T>C (p.Cys314Arg) c.881T>C n.104T>C c.35T>C c.892T>C (p.Cys298Arg)	dbSNP gnomAD v4
2	g.85663444A>T	CA347487356	SFTPB	c.904T>A (p.Cys302Ser) c.940T>A (p.Cys314Ser) c.881T>A n.104T>A c.35T>A c.892T>A (p.Cys298Ser)
2	g.85663445G>A	CA427080673	SFTPB	c.903C>T (p.Leu301=) c.939C>T (p.Leu313=) c.880C>T n.103C>T c.34C>T c.891C>T (p.Leu297=)
2	g.85663445G>C	CA427080675	SFTPB	c.903C>G (p.Leu301=) c.939C>G (p.Leu313=) c.880C>G n.103C>G c.34C>G c.891C>G (p.Leu297=)
2	g.85663445G>T	CA427080676	SFTPB	c.903C>A (p.Leu301=) c.939C>A (p.Leu313=) c.880C>A n.103C>A c.34C>A c.891C>A (p.Leu297=)
2	g.85663446A>C	CA347487361	SFTPB	c.902T>G (p.Leu301Arg) c.938T>G (p.Leu313Arg) c.879T>G n.102T>G c.33T>G c.890T>G (p.Leu297Arg)
2	g.85663446A>G	CA347487364	SFTPB	c.902T>C (p.Leu301Pro) c.938T>C (p.Leu313Pro) c.879T>C n.102T>C c.33T>C c.890T>C (p.Leu297Pro)
2	g.85663446A>T	CA347487360	SFTPB	c.902T>A (p.Leu301His) c.938T>A (p.Leu313His) c.879T>A n.102T>A c.33T>A c.890T>A (p.Leu297His)
2	g.85663447G>A	CA347487369	SFTPB	c.901C>T (p.Leu301Phe) c.937C>T (p.Leu313Phe) c.878C>T n.101C>T c.32C>T c.889C>T (p.Leu297Phe)
2	g.85663447G>C	CA347487366	SFTPB	c.901C>G (p.Leu301Val) c.937C>G (p.Leu313Val) c.878C>G n.101C>G c.32C>G c.889C>G (p.Leu297Val)
2	g.85663447G>T	CA347487367	SFTPB	c.901C>A (p.Leu301Ile) c.937C>A (p.Leu313Ile) c.878C>A n.101C>A c.32C>A c.889C>A (p.Leu297Ile)
2	g.85663448G>A	CA427080678	SFTPB	c.900C>T (p.His300=) c.936C>T (p.His312=) c.877C>T n.100C>T c.31C>T c.888C>T (p.His296=)
2	g.85663448G>C	CA51751244	SFTPB	c.900C>G (p.His300Gln) c.936C>G (p.His312Gln) c.877C>G n.100C>G c.31C>G c.888C>G (p.His296Gln)	dbSNP gnomAD v3 gnomAD v4
2	g.85663448G=	CA1266876917	SFTPB	c.900C= (p.His300=) c.936C= (p.His312=) c.877C= n.100C= c.31C= c.888C= (p.His296=)
2	g.85663448G>T	CA347487373	SFTPB	c.900C>A (p.His300Gln) c.936C>A (p.His312Gln) c.877C>A n.100C>A c.31C>A c.888C>A (p.His296Gln)
2	g.85663449T>A	CA347487375	SFTPB	c.899A>T (p.His300Leu) c.935A>T (p.His312Leu) c.876A>T n.99A>T c.30A>T c.887A>T (p.His296Leu)
2	g.85663449T>C	CA347487377	SFTPB	c.899A>G (p.His300Arg) c.935A>G (p.His312Arg) c.876A>G n.99A>G c.30A>G c.887A>G (p.His296Arg)	dbSNP
2	g.85663449T>G	CA347487379	SFTPB	c.899A>C (p.His300Pro) c.935A>C (p.His312Pro) c.876A>C n.99A>C c.30A>C c.887A>C (p.His296Pro)
2	g.85663450G>A	CA347487381	SFTPB	c.898C>T (p.His300Tyr) c.934C>T (p.His312Tyr) c.875C>T n.98C>T c.29C>T c.886C>T (p.His296Tyr)
2	g.85663450G>C	CA347487384	SFTPB	c.898C>G (p.His300Asp) c.934C>G (p.His312Asp) c.875C>G n.98C>G c.29C>G c.886C>G (p.His296Asp)
2	g.85663450G>T	CA347487386	SFTPB	c.898C>A (p.His300Asn) c.934C>A (p.His312Asn) c.875C>A n.98C>A c.29C>A c.886C>A (p.His296Asn)
2	g.85663451G>A	CA1743864	SFTPB	c.897C>T (p.Cys299=) c.933C>T (p.Cys311=) c.874C>T n.97C>T c.28C>T c.885C>T (p.Cys295=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663451G>C	CA347487389	SFTPB	c.897C>G (p.Cys299Trp) c.933C>G (p.Cys311Trp) c.874C>G n.97C>G c.28C>G c.885C>G (p.Cys295Trp)
2	g.85663451G=	CA1266876918	SFTPB	c.897C= (p.Cys299=) c.933C= (p.Cys311=) c.874C= n.97C= c.28C= c.885C= (p.Cys295=)
2	g.85663451G>T	CA347487392	SFTPB	c.897C>A (p.Cys299Ter) c.933C>A (p.Cys311Ter) c.874C>A n.97C>A c.28C>A c.885C>A (p.Cys295Ter)
2	g.85663452C>A	CA347487394	SFTPB	c.896G>T (p.Cys299Phe) c.932G>T (p.Cys311Phe) c.873G>T n.96G>T c.27G>T c.884G>T (p.Cys295Phe)	COSMIC COSMIC
2	g.85663452C>G	CA347487399	SFTPB	c.896G>C (p.Cys299Ser) c.932G>C (p.Cys311Ser) c.873G>C n.96G>C c.27G>C c.884G>C (p.Cys295Ser)
2	g.85663452C>T	CA347487397	SFTPB	c.896G>A (p.Cys299Tyr) c.932G>A (p.Cys311Tyr) c.873G>A n.96G>A c.27G>A c.884G>A (p.Cys295Tyr)	gnomAD v4
2	g.85663453A=	CA1266876919	SFTPB	c.895T= (p.Cys299=) c.931T= (p.Cys311=) c.872T= n.95T= c.26T= c.883T= (p.Cys295=)
2	g.85663453A>C	CA347487401	SFTPB	c.895T>G (p.Cys299Gly) c.931T>G (p.Cys311Gly) c.872T>G n.95T>G c.26T>G c.883T>G (p.Cys295Gly)	dbSNP
2	g.85663453A>G	CA347487403	SFTPB	c.895T>C (p.Cys299Arg) c.931T>C (p.Cys311Arg) c.872T>C n.95T>C c.26T>C c.883T>C (p.Cys295Arg)
2	g.85663453A>T	CA347487405	SFTPB	c.895T>A (p.Cys299Ser) c.931T>A (p.Cys311Ser) c.872T>A n.95T>A c.26T>A c.883T>A (p.Cys295Ser)
2	g.85663454C>A	CA347487407	SFTPB	c.894G>T (p.Glu298Asp) c.930G>T (p.Glu310Asp) c.871G>T n.94G>T c.25G>T c.882G>T (p.Glu294Asp)
2	g.85663454C=	CA1266876920	SFTPB	c.894G= (p.Glu298=) c.930G= (p.Glu310=) c.871G= n.94G= c.25G= c.882G= (p.Glu294=)
2	g.85663454C>G	CA347487415	SFTPB	c.894G>C (p.Glu298Asp) c.930G>C (p.Glu310Asp) c.871G>C n.94G>C c.25G>C c.882G>C (p.Glu294Asp)
2	g.85663454C>T	CA427080687	SFTPB	c.894G>A (p.Glu298=) c.930G>A (p.Glu310=) c.871G>A n.94G>A c.25G>A c.882G>A (p.Glu294=)	dbSNP gnomAD v3 gnomAD v4
2	g.85663455T>A	CA347487418	SFTPB	c.893A>T (p.Glu298Val) c.929A>T (p.Glu310Val) c.870A>T n.93A>T c.24A>T c.881A>T (p.Glu294Val)
2	g.85663455T>C	CA347487420	SFTPB	c.893A>G (p.Glu298Gly) c.929A>G (p.Glu310Gly) c.870A>G n.93A>G c.24A>G c.881A>G (p.Glu294Gly)
2	g.85663455T>G	CA1743865	SFTPB	c.893A>C (p.Glu298Ala) c.929A>C (p.Glu310Ala) c.870A>C n.93A>C c.24A>C c.881A>C (p.Glu294Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.85663455T=	CA1266876921	SFTPB	c.893A= (p.Glu298=) c.929A= (p.Glu310=) c.870A= n.93A= c.24A= c.881A= (p.Glu294=)
2	g.85663456C>A	CA347487424	SFTPB	c.892G>T (p.Glu298Ter) c.928G>T (p.Glu310Ter) c.869G>T n.92G>T c.23G>T c.880G>T (p.Glu294Ter)
2	g.85663456C=	CA1266876922	SFTPB	c.892G= (p.Glu298=) c.928G= (p.Glu310=) c.869G= n.92G= c.23G= c.880G= (p.Glu294=)
2	g.85663456C>G	CA347487426	SFTPB	c.892G>C (p.Glu298Gln) c.928G>C (p.Glu310Gln) c.869G>C n.92G>C c.23G>C c.880G>C (p.Glu294Gln)
2	g.85663456C>T	CA347487428	SFTPB	c.892G>A (p.Glu298Lys) c.928G>A (p.Glu310Lys) c.869G>A n.92G>A c.23G>A c.880G>A (p.Glu294Lys)	COSMIC COSMIC
2	g.85663457A>C	CA427080694	SFTPB	c.891T>G (p.Ser297=) c.927T>G (p.Ser309=) c.868T>G n.91T>G c.22T>G c.879T>G (p.Ser293=)
2	g.85663457A>G	CA427080695	SFTPB	c.891T>C (p.Ser297=) c.927T>C (p.Ser309=) c.868T>C n.91T>C c.22T>C c.879T>C (p.Ser293=)	gnomAD v4
2	g.85663457A>T	CA427080696	SFTPB	c.891T>A (p.Ser297=) c.927T>A (p.Ser309=) c.868T>A n.91T>A c.22T>A c.879T>A (p.Ser293=)
2	g.85663457dup	CA1266876923	SFTPB	c.891dup (p.Glu298Ter) c.927dup (p.Glu310Ter) c.868dup n.91dup c.22dup c.879dup (p.Glu294Ter)	dbSNP
2	g.85663457_85663458insT	CA427080699	SFTPB	c.890_891insA (p.Glu298Ter) c.926_927insA (p.Glu310Ter) c.867_868insA n.90_91insA c.21_22insA c.878_879insA (p.Glu294Ter)
2	g.85663458G>A	CA347487440	SFTPB	c.890C>T (p.Ser297Phe) c.926C>T (p.Ser309Phe) c.867C>T n.90C>T c.21C>T c.878C>T (p.Ser293Phe)
2	g.85663458G>C	CA347487436	SFTPB	c.890C>G (p.Ser297Cys) c.926C>G (p.Ser309Cys) c.867C>G n.90C>G c.21C>G c.878C>G (p.Ser293Cys)
2	g.85663458G>T	CA347487432	SFTPB	c.890C>A (p.Ser297Tyr) c.926C>A (p.Ser309Tyr) c.867C>A n.90C>A c.21C>A c.878C>A (p.Ser293Tyr)
2	g.85663459A>C	CA347487443	SFTPB	c.889T>G (p.Ser297Ala) c.925T>G (p.Ser309Ala) c.866T>G n.89T>G c.20T>G c.877T>G (p.Ser293Ala)
2	g.85663459A>G	CA347487441	SFTPB	c.889T>C (p.Ser297Pro) c.925T>C (p.Ser309Pro) c.866T>C n.89T>C c.20T>C c.877T>C (p.Ser293Pro)
2	g.85663459A>T	CA347487442	SFTPB	c.889T>A (p.Ser297Thr) c.925T>A (p.Ser309Thr) c.866T>A n.89T>A c.20T>A c.877T>A (p.Ser293Thr)
2	g.85663460G>A	CA1743866	SFTPB	c.888C>T (p.Asp296=) c.924C>T (p.Asp308=) c.865C>T n.88C>T c.19C>T c.876C>T (p.Asp292=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.85663460G>C	CA347487444	SFTPB	c.888C>G (p.Asp296Glu) c.924C>G (p.Asp308Glu) c.865C>G n.88C>G c.19C>G c.876C>G (p.Asp292Glu)
2	g.85663460G=	CA1266876924	SFTPB	c.888C= (p.Asp296=) c.924C= (p.Asp308=) c.865C= n.88C= c.19C= c.876C= (p.Asp292=)
2	g.85663460G>T	CA1743867	SFTPB	c.888C>A (p.Asp296Glu) c.924C>A (p.Asp308Glu) c.865C>A n.88C>A c.19C>A c.876C>A (p.Asp292Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663461T>A	CA347487446	SFTPB	c.887A>T (p.Asp296Val) c.923A>T (p.Asp308Val) c.864A>T n.87A>T c.18A>T c.875A>T (p.Asp292Val)
2	g.85663461T>C	CA347487449	SFTPB	c.887A>G (p.Asp296Gly) c.923A>G (p.Asp308Gly) c.864A>G n.87A>G c.18A>G c.875A>G (p.Asp292Gly)
2	g.85663461T>G	CA347487450	SFTPB	c.887A>C (p.Asp296Ala) c.923A>C (p.Asp308Ala) c.864A>C n.87A>C c.18A>C c.875A>C (p.Asp292Ala)
2	g.85663462C>A	CA347487453	SFTPB	c.886G>T (p.Asp296Tyr) c.922G>T (p.Asp308Tyr) c.863G>T n.86G>T c.17G>T c.874G>T (p.Asp292Tyr)	gnomAD v4
2	g.85663462C=	CA1266876925	SFTPB	c.886G= (p.Asp296=) c.922G= (p.Asp308=) c.863G= n.86G= c.17G= c.874G= (p.Asp292=)
2	g.85663462C>G	CA347487455	SFTPB	c.886G>C (p.Asp296His) c.922G>C (p.Asp308His) c.863G>C n.86G>C c.17G>C c.874G>C (p.Asp292His)
2	g.85663462C>T	CA347487459	SFTPB	c.886G>A (p.Asp296Asn) c.922G>A (p.Asp308Asn) c.863G>A n.86G>A c.17G>A c.874G>A (p.Asp292Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.85663463T>A	CA427080702	SFTPB	c.885A>T (p.Arg295=) c.921A>T (p.Arg307=) c.862A>T n.85A>T c.16A>T c.873A>T (p.Arg291=)
2	g.85663463T>C	CA427080704	SFTPB	c.885A>G (p.Arg295=) c.921A>G (p.Arg307=) c.862A>G n.85A>G c.16A>G c.873A>G (p.Arg291=)
2	g.85663463T>G	CA427080707	SFTPB	c.885A>C (p.Arg295=) c.921A>C (p.Arg307=) c.862A>C n.85A>C c.16A>C c.873A>C (p.Arg291=)
2	g.85663464C>A	CA347487463	SFTPB	c.884G>T (p.Arg295Leu) c.920G>T (p.Arg307Leu) c.861G>T n.84G>T c.15G>T c.872G>T (p.Arg291Leu)
2	g.85663464C=	CA1266876926	SFTPB	c.884G= (p.Arg295=) c.920G= (p.Arg307=) c.861G= n.84G= c.15G= c.872G= (p.Arg291=)
2	g.85663464C>G	CA347487466	SFTPB	c.884G>C (p.Arg295Pro) c.920G>C (p.Arg307Pro) c.861G>C n.84G>C c.15G>C c.872G>C (p.Arg291Pro)
2	g.85663464C>T	CA1743868	SFTPB	c.884G>A (p.Arg295Gln) c.920G>A (p.Arg307Gln) c.861G>A n.84G>A c.15G>A c.872G>A (p.Arg291Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.85663465G>A	CA347487472	SFTPB	c.883C>T (p.Arg295Ter) c.919C>T (p.Arg307Ter) c.860C>T n.83C>T c.14C>T c.871C>T (p.Arg291Ter)	ClinVar dbSNP gnomAD v4
2	g.85663465G>C	CA347487479	SFTPB	c.883C>G (p.Arg295Gly) c.919C>G (p.Arg307Gly) c.860C>G n.83C>G c.14C>G c.871C>G (p.Arg291Gly)
2	g.85663465G=	CA1266876927	SFTPB	c.883C= (p.Arg295=) c.919C= (p.Arg307=) c.860C= n.83C= c.14C= c.871C= (p.Arg291=)
2	g.85663465G>T	CA427080712	SFTPB	c.883C>A (p.Arg295=) c.919C>A (p.Arg307=) c.860C>A n.83C>A c.14C>A c.871C>A (p.Arg291=)
2	g.85663466C>A	CA427080713	SFTPB	c.882G>T (p.Pro294=) c.918G>T (p.Pro306=) c.859G>T n.82G>T c.13G>T c.870G>T (p.Pro290=)
2	g.85663466C=	CA1266876928	SFTPB	c.882G= (p.Pro294=) c.918G= (p.Pro306=) c.859G= n.82G= c.13G= c.870G= (p.Pro290=)
2	g.85663466C>G	CA427080714	SFTPB	c.882G>C (p.Pro294=) c.918G>C (p.Pro306=) c.859G>C n.82G>C c.13G>C c.870G>C (p.Pro290=)
2	g.85663466C>T	CA1743870	SFTPB	c.882G>A (p.Pro294=) c.918G>A (p.Pro306=) c.859G>A n.82G>A c.13G>A c.870G>A (p.Pro290=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663470_85663487dup	CA1743869	SFTPB	c.865_882dup (p.Pro294_Arg295insThrGlyGluTrpLeuPro) c.901_918dup (p.Pro306_Arg307insThrGlyGluTrpLeuPro) c.846-4_859dup n.65_82dup c.857-4_870dup	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663467G>A	CA347487484	SFTPB	c.881C>T (p.Pro294Leu) c.917C>T (p.Pro306Leu) c.858C>T n.81C>T c.12C>T c.869C>T (p.Pro290Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.85663467G>C	CA347487489	SFTPB	c.881C>G (p.Pro294Arg) c.917C>G (p.Pro306Arg) c.858C>G n.81C>G c.12C>G c.869C>G (p.Pro290Arg)
2	g.85663467G=	CA1266876929	SFTPB	c.881C= (p.Pro294=) c.917C= (p.Pro306=) c.858C= n.81C= c.12C= c.869C= (p.Pro290=)
2	g.85663467G>T	CA347487490	SFTPB	c.881C>A (p.Pro294Gln) c.917C>A (p.Pro306Gln) c.858C>A n.81C>A c.12C>A c.869C>A (p.Pro290Gln)
2	g.85663468G>A	CA347487491	SFTPB	c.880C>T (p.Pro294Ser) c.916C>T (p.Pro306Ser) c.857C>T n.80C>T c.11C>T c.868C>T (p.Pro290Ser)
2	g.85663468G>C	CA347487495	SFTPB	c.880C>G (p.Pro294Ala) c.916C>G (p.Pro306Ala) c.857C>G n.80C>G c.11C>G c.868C>G (p.Pro290Ala)	dbSNP
2	g.85663468G=	CA1266876930	SFTPB	c.880C= (p.Pro294=) c.916C= (p.Pro306=) c.857C= n.80C= c.11C= c.868C= (p.Pro290=)
2	g.85663468G>T	CA347487497	SFTPB	c.880C>A (p.Pro294Thr) c.916C>A (p.Pro306Thr) c.857C>A n.80C>A c.11C>A c.868C>A (p.Pro290Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.85663469C>A	CA427080720	SFTPB	c.879G>T (p.Leu293=) c.915G>T (p.Leu305=) c.856G>T n.79G>T c.10G>T c.867G>T (p.Leu289=)
2	g.85663469C>G	CA427080721	SFTPB	c.879G>C (p.Leu293=) c.915G>C (p.Leu305=) c.856G>C n.79G>C c.10G>C c.867G>C (p.Leu289=)
2	g.85663469C>T	CA427080722	SFTPB	c.879G>A (p.Leu293=) c.915G>A (p.Leu305=) c.856G>A n.79G>A c.10G>A c.867G>A (p.Leu289=)
2	g.85663470A=	CA1266876931	SFTPB	c.878T= (p.Leu293=) c.914T= (p.Leu305=) c.855T= n.78T= c.9T= c.866T= (p.Leu289=)
2	g.85663470A>C	CA347487501	SFTPB	c.878T>G (p.Leu293Arg) c.914T>G (p.Leu305Arg) c.855T>G n.78T>G c.9T>G c.866T>G (p.Leu289Arg)
2	g.85663470A>G	CA51751255	SFTPB	c.878T>C (p.Leu293Pro) c.914T>C (p.Leu305Pro) c.855T>C n.78T>C c.9T>C c.866T>C (p.Leu289Pro)	dbSNP
2	g.85663470A>T	CA347487508	SFTPB	c.878T>A (p.Leu293Gln) c.914T>A (p.Leu305Gln) c.855T>A n.78T>A c.9T>A c.866T>A (p.Leu289Gln)
2	g.85663471G>A	CA427080724	SFTPB	c.877C>T (p.Leu293=) c.913C>T (p.Leu305=) c.854C>T n.77C>T c.8C>T c.865C>T (p.Leu289=)
2	g.85663471G>C	CA347487513	SFTPB	c.877C>G (p.Leu293Val) c.913C>G (p.Leu305Val) c.854C>G n.77C>G c.8C>G c.865C>G (p.Leu289Val)
2	g.85663471G>T	CA347487515	SFTPB	c.877C>A (p.Leu293Met) c.913C>A (p.Leu305Met) c.854C>A n.77C>A c.8C>A c.865C>A (p.Leu289Met)
2	g.85663472C>A	CA347487525	SFTPB	c.876G>T (p.Trp292Cys) c.912G>T (p.Trp304Cys) c.853G>T n.76G>T c.7G>T c.864G>T (p.Trp288Cys)
2	g.85663472C=	CA1266876932	SFTPB	c.876G= (p.Trp292=) c.912G= (p.Trp304=) c.853G= n.76G= c.7G= c.864G= (p.Trp288=)
2	g.85663472C>G	CA347487528	SFTPB	c.876G>C (p.Trp292Cys) c.912G>C (p.Trp304Cys) c.853G>C n.76G>C c.7G>C c.864G>C (p.Trp288Cys)
2	g.85663472C>T	CA347487519	SFTPB	c.876G>A (p.Trp292Ter) c.912G>A (p.Trp304Ter) c.853G>A n.76G>A c.7G>A c.864G>A (p.Trp288Ter)	ClinVar dbSNP gnomAD v4
2	g.85663473C>A	CA347487530	SFTPB	c.875G>T (p.Trp292Leu) c.911G>T (p.Trp304Leu) c.852G>T n.75G>T c.6G>T c.863G>T (p.Trp288Leu)
2	g.85663473C=	CA1266876933	SFTPB	c.875G= (p.Trp292=) c.911G= (p.Trp304=) c.852G= n.75G= c.6G= c.863G= (p.Trp288=)
2	g.85663473C>G	CA1743871	SFTPB	c.875G>C (p.Trp292Ser) c.911G>C (p.Trp304Ser) c.852G>C n.75G>C c.6G>C c.863G>C (p.Trp288Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.85663473C>T	CA347487538	SFTPB	c.875G>A (p.Trp292Ter) c.911G>A (p.Trp304Ter) c.852G>A n.75G>A c.6G>A c.863G>A (p.Trp288Ter)
2	g.85663474A>C	CA347487541	SFTPB	c.874T>G (p.Trp292Gly) c.910T>G (p.Trp304Gly) c.851T>G n.74T>G c.5T>G c.862T>G (p.Trp288Gly)
2	g.85663474A>G	CA347487543	SFTPB	c.874T>C (p.Trp292Arg) c.910T>C (p.Trp304Arg) c.851T>C n.74T>C c.5T>C c.862T>C (p.Trp288Arg)
2	g.85663474A>T	CA347487546	SFTPB	c.874T>A (p.Trp292Arg) c.910T>A (p.Trp304Arg) c.851T>A n.74T>A c.5T>A c.862T>A (p.Trp288Arg)
2	g.85663475T>A	CA347487548	SFTPB	c.873A>T (p.Glu291Asp) c.909A>T (p.Glu303Asp) c.850A>T n.73A>T c.4A>T c.861A>T (p.Glu287Asp)
2	g.85663475T>C	CA427080729	SFTPB	c.873A>G (p.Glu291=) c.909A>G (p.Glu303=) c.850A>G n.73A>G c.4A>G c.861A>G (p.Glu287=)	dbSNP
2	g.85663475T>G	CA347487547	SFTPB	c.873A>C (p.Glu291Asp) c.909A>C (p.Glu303Asp) c.850A>C n.73A>C c.4A>C c.861A>C (p.Glu287Asp)
2	g.85663475T=	CA1266876934	SFTPB	c.873A= (p.Glu291=) c.909A= (p.Glu303=) c.850A= n.73A= c.4A= c.861A= (p.Glu287=)
2	g.85663476T>A	CA347487549	SFTPB	c.872A>T (p.Glu291Val) c.908A>T (p.Glu303Val) c.849A>T n.72A>T c.3A>T c.860A>T (p.Glu287Val)
2	g.85663476T>C	CA347487552	SFTPB	c.872A>G (p.Glu291Gly) c.908A>G (p.Glu303Gly) c.849A>G n.72A>G c.3A>G c.860A>G (p.Glu287Gly)
2	g.85663476T>G	CA347487555	SFTPB	c.872A>C (p.Glu291Ala) c.908A>C (p.Glu303Ala) c.849A>C n.72A>C c.3A>C c.860A>C (p.Glu287Ala)
2	g.85663476_85663479delinsTCTC	CA1266876935	SFTPB	c.869_872delinsGAGA (p.Gly290=) c.905_908delinsGAGA (p.Gly302=) c.846_849delinsGAGA n.69_72delinsGAGA c.857_860delinsGAGA (p.Arg286=)
2	g.85663477C>A	CA347487558	SFTPB	c.871G>T (p.Glu291Ter) c.907G>T (p.Glu303Ter) c.848G>T n.71G>T c.2G>T c.859G>T (p.Glu287Ter)
2	g.85663477C=	CA1266876936	SFTPB	c.871G= (p.Glu291=) c.907G= (p.Glu303=) c.848G= n.71G= c.2G= c.859G= (p.Glu287=)
2	g.85663477C>G	CA347487560	SFTPB	c.871G>C (p.Glu291Gln) c.907G>C (p.Glu303Gln) c.848G>C n.71G>C c.2G>C c.859G>C (p.Glu287Gln)
2	g.85663477C>T	CA51751264	SFTPB	c.871G>A (p.Glu291Lys) c.907G>A (p.Glu303Lys) c.848G>A n.71G>A c.2G>A c.859G>A (p.Glu287Lys)	dbSNP gnomAD v3 gnomAD v4
2	g.85663479_85663481del	CA51751263	SFTPB	c.869_871del (p.Gly290del) c.905_907del (p.Gly302del) c.846_848del n.69_71del c.857_859del	dbSNP gnomAD v3 gnomAD v4
2	g.85663478T>A	CA427080730	SFTPB	c.870A>T (p.Gly290=) c.906A>T (p.Gly302=) c.847A>T n.70A>T c.1A>T c.858A>T (p.Arg286Ser)
2	g.85663478T>C	CA427080731	SFTPB	c.870A>G (p.Gly290=) c.906A>G (p.Gly302=) c.847A>G n.70A>G c.1A>G c.858A>G (p.Arg286=)
2	g.85663478T>G	CA427080732	SFTPB	c.870A>C (p.Gly290=) c.906A>C (p.Gly302=) c.847A>C n.70A>C c.1A>C c.858A>C (p.Arg286Ser)
2	g.85663479C>A	CA51751266	SFTPB	c.869G>T (p.Gly290Val) c.905G>T (p.Gly302Val) c.846G>T n.69G>T c.857G>T (p.Arg286Ile)	dbSNP gnomAD v4
2	g.85663479C=	CA1266876937	SFTPB	c.869G= (p.Gly290=) c.905G= (p.Gly302=) c.846G= n.69G= c.857G= (p.Arg286=)
2	g.85663479C>G	CA1743873	SFTPB	c.869G>C (p.Gly290Ala) c.905G>C (p.Gly302Ala) c.846G>C n.69G>C c.857G>C (p.Arg286Thr)	dbSNP ExAC gnomAD v2
2	g.85663479C>T	CA1743872	SFTPB	c.869G>A (p.Gly290Glu) c.905G>A (p.Gly302Glu) c.846G>A n.69G>A c.857G>A (p.Arg286Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.85663480C>A	CA347487570	SFTPB	c.868G>T (p.Gly290Ter) c.904G>T (p.Gly302Ter) c.846-1G>T n.68G>T c.857-1G>T (n.857-1G>T)
2	g.85663480C=	CA1266876938	SFTPB	c.868G= (p.Gly290=) c.904G= (p.Gly302=) c.846-1G= n.68G= c.857-1G= (n.857-1G=)
2	g.85663480C>G	CA347487574	SFTPB	c.868G>C (p.Gly290Arg) c.904G>C (p.Gly302Arg) c.846-1G>C n.68G>C c.857-1G>C (n.857-1G>C)
2	g.85663480C>T	CA347487576	SFTPB	c.868G>A (p.Gly290Arg) c.904G>A (p.Gly302Arg) c.846-1G>A n.68G>A c.857-1G>A (n.857-1G>A)	dbSNP gnomAD v2
2	g.85663481T>A	CA427080735	SFTPB	c.867A>T (p.Thr289=) c.903A>T (p.Thr301=) c.846-2A>T n.67A>T c.857-2A>T (n.857-2A>T)
2	g.85663481T>C	CA427080734	SFTPB	c.867A>G (p.Thr289=) c.903A>G (p.Thr301=) c.846-2A>G n.67A>G c.857-2A>G (n.857-2A>G)
2	g.85663481T>G	CA427080733	SFTPB	c.867A>C (p.Thr289=) c.903A>C (p.Thr301=) c.846-2A>C n.67A>C c.857-2A>C (n.857-2A>C)
2	g.85663482G>A	CA347487581	SFTPB	c.866C>T (p.Thr289Ile) c.902C>T (p.Thr301Ile) c.846-3C>T n.66C>T c.857-3C>T (n.857-3C>T)	gnomAD v4
2	g.85663482G>C	CA347487585	SFTPB	c.866C>G (p.Thr289Arg) c.902C>G (p.Thr301Arg) c.846-3C>G n.66C>G c.857-3C>G (n.857-3C>G)
2	g.85663482G=	CA1266876939	SFTPB	c.866C= (p.Thr289=) c.902C= (p.Thr301=) c.846-3C= n.66C= c.857-3C= (n.857-3C=)
2	g.85663482G>T	CA347487587	SFTPB	c.866C>A (p.Thr289Lys) c.902C>A (p.Thr301Lys) c.846-3C>A n.66C>A c.857-3C>A (n.857-3C>A)	dbSNP gnomAD v2
2	g.85663483T>A	CA347487590	SFTPB	c.865A>T (p.Thr289Ser) c.901A>T (p.Thr301Ser) c.846-4A>T n.65A>T c.857-4A>T (n.857-4A>T)	dbSNP gnomAD v4
2	g.85663483T>C	CA347487591	SFTPB	c.865A>G (p.Thr289Ala) c.901A>G (p.Thr301Ala) c.846-4A>G n.65A>G c.857-4A>G (n.857-4A>G)
2	g.85663483T>G	CA347487594	SFTPB	c.865A>C (p.Thr289Pro) c.901A>C (p.Thr301Pro) c.846-4A>C n.65A>C c.857-4A>C (n.857-4A>C)
2	g.85663483T=	CA1266876940	SFTPB	c.865A= (p.Thr289=) c.901A= (p.Thr301=) c.846-4A= n.65A= c.857-4A= (n.857-4A=)
2	g.85663484C>A	CA427080736	SFTPB	c.864G>T (p.Pro288=) c.900G>T (p.Pro300=) c.846-5G>T n.64G>T c.857-5G>T (n.857-5G>T)	gnomAD v4
2	g.85663484C=	CA1266876941	SFTPB	c.864G= (p.Pro288=) c.900G= (p.Pro300=) c.846-5G= n.64G= c.857-5G= (n.857-5G=)
2	g.85663484C>G	CA427080737	SFTPB	c.864G>C (p.Pro288=) c.900G>C (p.Pro300=) c.846-5G>C n.64G>C c.857-5G>C (n.857-5G>C)
2	g.85663484C>T	CA1743874	SFTPB	c.864G>A (p.Pro288=) c.900G>A (p.Pro300=) c.846-5G>A n.64G>A c.857-5G>A (n.857-5G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663485G>A	CA1743875	SFTPB	c.863C>T (p.Pro288Leu) c.899C>T (p.Pro300Leu) c.846-6C>T n.63C>T c.857-6C>T (n.857-6C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663485G>C	CA347487600	SFTPB	c.863C>G (p.Pro288Arg) c.899C>G (p.Pro300Arg) c.846-6C>G n.63C>G c.857-6C>G (n.857-6C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.85663485G=	CA1266876942	SFTPB	c.863C= (p.Pro288=) c.899C= (p.Pro300=) c.846-6C= n.63C= c.857-6C= (n.857-6C=)
2	g.85663485G>T	CA51751296	SFTPB	c.863C>A (p.Pro288Gln) c.899C>A (p.Pro300Gln) c.846-6C>A n.63C>A c.857-6C>A (n.857-6C>A)	dbSNP gnomAD v2 gnomAD v4
2	g.85663486G>A	CA347487605	SFTPB	c.862C>T (p.Pro288Ser) c.898C>T (p.Pro300Ser) c.846-7C>T n.62C>T c.857-7C>T (n.857-7C>T)
2	g.85663486G>C	CA347487609	SFTPB	c.862C>G (p.Pro288Ala) c.898C>G (p.Pro300Ala) c.846-7C>G n.62C>G c.857-7C>G (n.857-7C>G)	dbSNP
2	g.85663486G=	CA1266876943	SFTPB	c.862C= (p.Pro288=) c.898C= (p.Pro300=) c.846-7C= n.62C= c.857-7C= (n.857-7C=)
2	g.85663486G>T	CA347487607	SFTPB	c.862C>A (p.Pro288Thr) c.898C>A (p.Pro300Thr) c.846-7C>A n.62C>A c.857-7C>A (n.857-7C>A)
2	g.85663487C>A	CA427080739	SFTPB	c.861G>T (p.Ser287=) c.897G>T (p.Ser299=) c.846-8G>T n.61G>T c.857-8G>T (n.857-8G>T)
2	g.85663487C=	CA1266876944	SFTPB	c.861G= (p.Ser287=) c.897G= (p.Ser299=) c.846-8G= n.61G= c.857-8G= (n.857-8G=)
2	g.85663487C>G	CA427080740	SFTPB	c.861G>C (p.Ser287=) c.897G>C (p.Ser299=) c.846-8G>C n.61G>C c.857-8G>C (n.857-8G>C)
2	g.85663487C>T	CA1743876	SFTPB	c.861G>A (p.Ser287=) c.897G>A (p.Ser299=) c.846-8G>A n.61G>A c.857-8G>A (n.857-8G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.85663488G>A	CA1743877	SFTPB	c.860C>T (p.Ser287Leu) c.896C>T (p.Ser299Leu) c.846-9C>T n.60C>T c.857-9C>T (n.857-9C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663488G>C	CA347487616	SFTPB	c.860C>G (p.Ser287Trp) c.896C>G (p.Ser299Trp) c.846-9C>G n.60C>G c.857-9C>G (n.857-9C>G)
2	g.85663488G=	CA1266876945	SFTPB	c.860C= (p.Ser287=) c.896C= (p.Ser299=) c.846-9C= n.60C= c.857-9C= (n.857-9C=)
2	g.85663488G>T	CA347487620	SFTPB	c.860C>A (p.Ser287Ter) c.896C>A (p.Ser299Ter) c.846-9C>A n.60C>A c.857-9C>A (n.857-9C>A)
2	g.85663489A>C	CA347487622	SFTPB	c.859T>G (p.Ser287Ala) c.895T>G (p.Ser299Ala) c.846-10T>G n.59T>G c.857-10T>G (n.857-10T>G)	gnomAD v4
2	g.85663489A>G	CA347487625	SFTPB	c.859T>C (p.Ser287Pro) c.895T>C (p.Ser299Pro) c.846-10T>C n.59T>C c.857-10T>C (n.857-10T>C)
2	g.85663489A>T	CA347487628	SFTPB	c.859T>A (p.Ser287Thr) c.895T>A (p.Ser299Thr) c.846-10T>A n.59T>A c.857-10T>A (n.857-10T>A)
2	g.85663490C>A	CA347487630	SFTPB	c.858G>T (p.Arg286Ser) c.894G>T (p.Arg298Ser) c.846-11G>T n.58G>T c.857-11G>T (n.857-11G>T)
2	g.85663490C=	CA1266876946	SFTPB	c.858G= (p.Arg286=) c.894G= (p.Arg298=) c.846-11G= n.58G= c.857-11G= (n.857-11G=)
2	g.85663490C>G	CA347487632	SFTPB	c.858G>C (p.Arg286Ser) c.894G>C (p.Arg298Ser) c.846-11G>C n.58G>C c.857-11G>C (n.857-11G>C)
2	g.85663490C>T	CA427080744	SFTPB	c.858G>A (p.Arg286=) c.894G>A (p.Arg298=) c.846-11G>A n.58G>A c.857-11G>A (n.857-11G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.85663491C>A	CA347487638	SFTPB	c.857G>T (p.Arg286Met) c.893G>T (p.Arg298Met) c.846-12G>T n.57G>T c.857-12G>T (n.857-12G>T)
2	g.85663491C>G	CA347487641	SFTPB	c.857G>C (p.Arg286Thr) c.893G>C (p.Arg298Thr) c.846-12G>C n.57G>C c.857-12G>C (n.857-12G>C)
2	g.85663491C>T	CA347487646	SFTPB	c.857G>A (p.Arg286Lys) c.893G>A (p.Arg298Lys) c.846-12G>A n.57G>A c.857-12G>A (n.857-12G>A)
2	g.85663492C>A	CA347487662	SFTPB	c.857-1G>T (n.857-1G>T) c.893-1G>T (n.893-1G>T) c.846-13G>T n.56G>T c.857-13G>T (n.857-13G>T)
2	g.85663492C>G	CA347487651	SFTPB	c.857-1G>C (n.857-1G>C) c.893-1G>C (n.893-1G>C) c.846-13G>C n.56G>C c.857-13G>C (n.857-13G>C)	gnomAD v4
2	g.85663492C>T	CA347487657	SFTPB	c.857-1G>A (n.857-1G>A) c.893-1G>A (n.893-1G>A) c.846-13G>A n.56G>A c.857-13G>A (n.857-13G>A)
2	g.85663493T>A	CA347487666	SFTPB	c.857-2A>T (n.857-2A>T) c.893-2A>T (n.893-2A>T) c.846-14A>T n.55A>T c.857-14A>T (n.857-14A>T)
2	g.85663493T>C	CA347487669	SFTPB	c.857-2A>G (n.857-2A>G) c.893-2A>G (n.893-2A>G) c.846-14A>G n.55A>G c.857-14A>G (n.857-14A>G)
2	g.85663493T>G	CA347487670	SFTPB	c.857-2A>C (n.857-2A>C) c.893-2A>C (n.893-2A>C) c.846-14A>C n.55A>C c.857-14A>C (n.857-14A>C)
2	g.85663494G>T	CA2659874538	SFTPB	c.857-3C>A (n.857-3C>A) c.893-3C>A (n.893-3C>A) c.846-15C>A n.54C>A c.857-15C>A (n.857-15C>A)	gnomAD v4
2	g.85663495G>A	CA2659874539	SFTPB	c.857-4C>T (n.857-4C>T) c.893-4C>T (n.893-4C>T) c.846-16C>T n.53C>T c.857-16C>T (n.857-16C>T)	gnomAD v4
2	g.85663501T>C	CA1743878	SFTPB	c.857-10A>G (n.857-10A>G) c.893-10A>G (n.893-10A>G) c.846-22A>G n.47A>G c.857-22A>G (n.857-22A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663501T=	CA1266876947	SFTPB	c.857-10A= (n.857-10A=) c.893-10A= (n.893-10A=) c.846-22A= n.47A= c.857-22A= (n.857-22A=)
2	g.85663502G>C	CA893989066	SFTPB	c.857-11C>G (n.857-11C>G) c.893-11C>G (n.893-11C>G) c.846-23C>G n.46C>G c.857-23C>G (n.857-23C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.85663502G=	CA1266876948	SFTPB	c.857-11C= (n.857-11C=) c.893-11C= (n.893-11C=) c.846-23C= n.46C= c.857-23C= (n.857-23C=)
2	g.85663502G>T	CA2527636299	SFTPB	c.857-11C>A (n.857-11C>A) c.893-11C>A (n.893-11C>A) c.846-23C>A n.46C>A c.857-23C>A (n.857-23C>A)
2	g.85663504G>A	CA1743879	SFTPB	c.857-13C>T (n.857-13C>T) c.893-13C>T (n.893-13C>T) c.846-25C>T n.44C>T c.857-25C>T (n.857-25C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.85663504G=	CA1266876949	SFTPB	c.857-13C= (n.857-13C=) c.893-13C= (n.893-13C=) c.846-25C= n.44C= c.857-25C= (n.857-25C=)
2	g.85663505C=	CA1266876950	SFTPB	c.857-14G= (n.857-14G=) c.893-14G= (n.893-14G=) c.846-26G= n.43G= c.857-26G= (n.857-26G=)
2	g.85663505C>T	CA534183677	SFTPB	c.857-14G>A (n.857-14G>A) c.893-14G>A (n.893-14G>A) c.846-26G>A n.43G>A c.857-26G>A (n.857-26G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663506A=	CA1266876951	SFTPB	c.857-15T= (n.857-15T=) c.893-15T= (n.893-15T=) c.846-27T= n.42T= c.857-27T= (n.857-27T=)
2	g.85663506A>G	CA893989067	SFTPB	c.857-15T>C (n.857-15T>C) c.893-15T>C (n.893-15T>C) c.846-27T>C n.42T>C c.857-27T>C (n.857-27T>C)	dbSNP gnomAD v4
2	g.85663508_85663509delinsTA	CA1266876952	SFTPB	c.857-18_857-17delinsTA (n.857-18_857-17delinsTA) c.893-18_893-17delinsTA (n.893-18_893-17delinsTA) c.846-30_846-29delinsTA n.39_40delinsTA c.857-30_857-29delinsTA (n.857-30_857-29delinsTA)
2	g.85663509del	CA1743880	SFTPB	c.857-18del (n.857-18del) c.893-18del (n.893-18del) c.846-30del n.39del c.857-30del (n.857-30del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663509A=	CA1266876954	SFTPB	c.857-18T= (n.857-18T=) c.893-18T= (n.893-18T=) c.846-30T= n.39T= c.857-30T= (n.857-30T=)
2	g.85663509A>G	CA1743881	SFTPB	c.857-18T>C (n.857-18T>C) c.893-18T>C (n.893-18T>C) c.846-30T>C n.39T>C c.857-30T>C (n.857-30T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.85663509_85663510delinsAG	CA1266876953	SFTPB	c.857-19_857-18delinsCT (n.857-19_857-18delinsCT) c.893-19_893-18delinsCT (n.893-19_893-18delinsCT) c.846-31_846-30delinsCT n.38_39delinsCT c.857-31_857-30delinsCT (n.857-31_857-30delinsCT)
2	g.85663510G>C	CA534183678	SFTPB	c.857-19C>G (n.857-19C>G) c.893-19C>G (n.893-19C>G) c.846-31C>G n.38C>G c.857-31C>G (n.857-31C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663510G=	CA1266876955	SFTPB	c.857-19C= (n.857-19C=) c.893-19C= (n.893-19C=) c.846-31C= n.38C= c.857-31C= (n.857-31C=)
2	g.85663510G>T	CA1743882	SFTPB	c.857-19C>A (n.857-19C>A) c.893-19C>A (n.893-19C>A) c.846-31C>A n.38C>A c.857-31C>A (n.857-31C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.85663514del	CA347487683	SFTPB	c.857-19del (n.857-19del) c.893-19del (n.893-19del) c.846-31del n.38del c.857-31del (n.857-31del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663513_85663514del	CA2659874540	SFTPB	c.857-20_857-19del (n.857-20_857-19del) c.893-20_893-19del (n.893-20_893-19del) c.846-32_846-31del n.37_38del c.857-32_857-31del (n.857-32_857-31del)	gnomAD v4
2	g.85663512G>A	CA534183679	SFTPB	c.857-21C>T (n.857-21C>T) c.893-21C>T (n.893-21C>T) c.846-33C>T n.36C>T c.857-33C>T (n.857-33C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663512G=	CA1266876956	SFTPB	c.857-21C= (n.857-21C=) c.893-21C= (n.893-21C=) c.846-33C= n.36C= c.857-33C= (n.857-33C=)
2	g.85663513G>A	CA2659874541	SFTPB	c.857-22C>T (n.857-22C>T) c.893-22C>T (n.893-22C>T) c.846-34C>T n.35C>T c.857-34C>T (n.857-34C>T)	gnomAD v4
2	g.85663514G>A	CA534183680	SFTPB	c.857-23C>T (n.857-23C>T) c.893-23C>T (n.893-23C>T) c.846-35C>T n.34C>T c.857-35C>T (n.857-35C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.85663514G=	CA1266876957	SFTPB	c.857-23C= (n.857-23C=) c.893-23C= (n.893-23C=) c.846-35C= n.34C= c.857-35C= (n.857-35C=)

Number of alleles fetched