Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.85663363_85663380delinsAGGAGCCAACACAGGCCT	CA1266876880	SFTPB	c.968_985delinsAGGCCTGTGTTGGCTCCT (p.Gln323=) c.1004_1021delinsAGGCCTGTGTTGGCTCCT (p.Gln335=) c.945_962delinsAGGCCTGTGTTGGCTCCT n.168_185delinsAGGCCTGTGTTGGCTCCT c.99_116delinsAGGCCTGTGTTGGCTCCT c.956_973delinsAGGCCTGTGTTGGCTCCT (p.Gln319=)
2	g.85663369_85663385del	CA1743853	SFTPB	c.968_984del (p.Gln323LeufsTer?) c.1004_1020del (p.Gln335LeufsTer?) c.945_961del n.168_184del c.99_115del c.956_972del (p.Gln319LeufsTer?) c.968_984del (p.Gln323LeufsTer23) c.968_984del (p.Gln323LeufsTer13)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.85663380T>A	CA347487064	SFTPB	c.968A>T (p.Gln323Leu) c.1004A>T (p.Gln335Leu) c.945A>T n.168A>T c.99A>T c.956A>T (p.Gln319Leu)
2	g.85663380T>C	CA347487061	SFTPB	c.968A>G (p.Gln323Arg) c.1004A>G (p.Gln335Arg) c.945A>G n.168A>G c.99A>G c.956A>G (p.Gln319Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663380T>G	CA347487059	SFTPB	c.968A>C (p.Gln323Pro) c.1004A>C (p.Gln335Pro) c.945A>C n.168A>C c.99A>C c.956A>C (p.Gln319Pro)
2	g.85663380T=	CA1266876888	SFTPB	c.968A= (p.Gln323=) c.1004A= (p.Gln335=) c.945A= n.168A= c.99A= c.956A= (p.Gln319=)
2	g.85663381G>A	CA347487067	SFTPB	c.967C>T (p.Gln323Ter) c.1003C>T (p.Gln335Ter) c.944C>T n.167C>T c.98C>T c.955C>T (p.Gln319Ter)
2	g.85663381G>C	CA347487069	SFTPB	c.967C>G (p.Gln323Glu) c.1003C>G (p.Gln335Glu) c.944C>G n.167C>G c.98C>G c.955C>G (p.Gln319Glu)
2	g.85663381G>T	CA347487071	SFTPB	c.967C>A (p.Gln323Lys) c.1003C>A (p.Gln335Lys) c.944C>A n.167C>A c.98C>A c.955C>A (p.Gln319Lys)
2	g.85663382G>A	CA427080611	SFTPB	c.966C>T (p.Leu322=) c.1002C>T (p.Leu334=) c.943C>T n.166C>T c.97C>T c.954C>T (p.Leu318=)
2	g.85663382G>C	CA427080612	SFTPB	c.966C>G (p.Leu322=) c.1002C>G (p.Leu334=) c.943C>G n.166C>G c.97C>G c.954C>G (p.Leu318=)	gnomAD v4
2	g.85663382G>T	CA427080613	SFTPB	c.966C>A (p.Leu322=) c.1002C>A (p.Leu334=) c.943C>A n.166C>A c.97C>A c.954C>A (p.Leu318=)
2	g.85663383A>C	CA347487074	SFTPB	c.965T>G (p.Leu322Arg) c.1001T>G (p.Leu334Arg) c.942T>G n.165T>G c.96T>G c.953T>G (p.Leu318Arg)
2	g.85663383A>G	CA347487076	SFTPB	c.965T>C (p.Leu322Pro) c.1001T>C (p.Leu334Pro) c.942T>C n.165T>C c.96T>C c.953T>C (p.Leu318Pro)
2	g.85663383A>T	CA347487078	SFTPB	c.965T>A (p.Leu322His) c.1001T>A (p.Leu334His) c.942T>A n.165T>A c.96T>A c.953T>A (p.Leu318His)
2	g.85663384G>A	CA51751139	SFTPB	c.964C>T (p.Leu322Phe) c.1000C>T (p.Leu334Phe) c.941C>T n.164C>T c.95C>T c.952C>T (p.Leu318Phe)	dbSNP gnomAD v3 gnomAD v4
2	g.85663384G>C	CA347487082	SFTPB	c.964C>G (p.Leu322Val) c.1000C>G (p.Leu334Val) c.941C>G n.164C>G c.95C>G c.952C>G (p.Leu318Val)
2	g.85663384G=	CA1266876889	SFTPB	c.964C= (p.Leu322=) c.1000C= (p.Leu334=) c.941C= n.164C= c.95C= c.952C= (p.Leu318=)
2	g.85663384G>T	CA347487084	SFTPB	c.964C>A (p.Leu322Ile) c.1000C>A (p.Leu334Ile) c.941C>A n.164C>A c.95C>A c.952C>A (p.Leu318Ile)
2	g.85663385C>A	CA347487086	SFTPB	c.963G>T (p.Met321Ile) c.999G>T (p.Met333Ile) c.940G>T n.163G>T c.94G>T c.951G>T (p.Met317Ile)
2	g.85663385C>G	CA347487088	SFTPB	c.963G>C (p.Met321Ile) c.999G>C (p.Met333Ile) c.940G>C n.163G>C c.94G>C c.951G>C (p.Met317Ile)
2	g.85663385C>T	CA347487090	SFTPB	c.963G>A (p.Met321Ile) c.999G>A (p.Met333Ile) c.940G>A n.163G>A c.94G>A c.951G>A (p.Met317Ile)
2	g.85663386A>C	CA347487097	SFTPB	c.962T>G (p.Met321Arg) c.998T>G (p.Met333Arg) c.939T>G n.162T>G c.93T>G c.950T>G (p.Met317Arg)
2	g.85663386A>G	CA347487095	SFTPB	c.962T>C (p.Met321Thr) c.998T>C (p.Met333Thr) c.939T>C n.162T>C c.93T>C c.950T>C (p.Met317Thr)
2	g.85663386A>T	CA347487092	SFTPB	c.962T>A (p.Met321Lys) c.998T>A (p.Met333Lys) c.939T>A n.162T>A c.93T>A c.950T>A (p.Met317Lys)
2	g.85663387T>A	CA347487100	SFTPB	c.961A>T (p.Met321Leu) c.997A>T (p.Met333Leu) c.938A>T n.161A>T c.92A>T c.949A>T (p.Met317Leu)
2	g.85663387T>C	CA347487101	SFTPB	c.961A>G (p.Met321Val) c.997A>G (p.Met333Val) c.938A>G n.161A>G c.92A>G c.949A>G (p.Met317Val)	gnomAD v4
2	g.85663387T>G	CA347487103	SFTPB	c.961A>C (p.Met321Leu) c.997A>C (p.Met333Leu) c.938A>C n.161A>C c.92A>C c.949A>C (p.Met317Leu)
2	g.85663388T>A	CA427080614	SFTPB	c.960A>T (p.Ala320=) c.996A>T (p.Ala332=) c.937A>T n.160A>T c.91A>T c.948A>T (p.Ala316=)
2	g.85663388T>C	CA1743856	SFTPB	c.960A>G (p.Ala320=) c.996A>G (p.Ala332=) c.937A>G n.160A>G c.91A>G c.948A>G (p.Ala316=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663388T>G	CA427080615	SFTPB	c.960A>C (p.Ala320=) c.996A>C (p.Ala332=) c.937A>C n.160A>C c.91A>C c.948A>C (p.Ala316=)
2	g.85663388T=	CA1266876890	SFTPB	c.960A= (p.Ala320=) c.996A= (p.Ala332=) c.937A= n.160A= c.91A= c.948A= (p.Ala316=)
2	g.85663389G>A	CA347487107	SFTPB	c.959C>T (p.Ala320Val) c.995C>T (p.Ala332Val) c.936C>T n.159C>T c.90C>T c.947C>T (p.Ala316Val)	gnomAD v4
2	g.85663389G>C	CA347487109	SFTPB	c.959C>G (p.Ala320Gly) c.995C>G (p.Ala332Gly) c.936C>G n.159C>G c.90C>G c.947C>G (p.Ala316Gly)
2	g.85663389G>T	CA347487111	SFTPB	c.959C>A (p.Ala320Glu) c.995C>A (p.Ala332Glu) c.936C>A n.159C>A c.90C>A c.947C>A (p.Ala316Glu)	gnomAD v4
2	g.85663390C>A	CA347487114	SFTPB	c.958G>T (p.Ala320Ser) c.994G>T (p.Ala332Ser) c.935G>T n.158G>T c.89G>T c.946G>T (p.Ala316Ser)	dbSNP
2	g.85663390C=	CA1266876891	SFTPB	c.958G= (p.Ala320=) c.994G= (p.Ala332=) c.935G= n.158G= c.89G= c.946G= (p.Ala316=)
2	g.85663390C>G	CA347487115	SFTPB	c.958G>C (p.Ala320Pro) c.994G>C (p.Ala332Pro) c.935G>C n.158G>C c.89G>C c.946G>C (p.Ala316Pro)
2	g.85663390C>T	CA347487118	SFTPB	c.958G>A (p.Ala320Thr) c.994G>A (p.Ala332Thr) c.935G>A n.158G>A c.89G>A c.946G>A (p.Ala316Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.85663391C>A	CA347487120	SFTPB	c.957G>T (p.Gln319His) c.993G>T (p.Gln331His) c.934G>T n.157G>T c.88G>T c.945G>T (p.Gln315His)
2	g.85663391C>G	CA347487121	SFTPB	c.957G>C (p.Gln319His) c.993G>C (p.Gln331His) c.934G>C n.157G>C c.88G>C c.945G>C (p.Gln315His)
2	g.85663391C>T	CA427080616	SFTPB	c.957G>A (p.Gln319=) c.993G>A (p.Gln331=) c.934G>A n.157G>A c.88G>A c.945G>A (p.Gln315=)
2	g.85663392T>A	CA347487128	SFTPB	c.956A>T (p.Gln319Leu) c.992A>T (p.Gln331Leu) c.933A>T n.156A>T c.87A>T c.944A>T (p.Gln315Leu)
2	g.85663392T>C	CA347487126	SFTPB	c.956A>G (p.Gln319Arg) c.992A>G (p.Gln331Arg) c.933A>G n.156A>G c.87A>G c.944A>G (p.Gln315Arg)
2	g.85663392T>G	CA347487123	SFTPB	c.956A>C (p.Gln319Pro) c.992A>C (p.Gln331Pro) c.933A>C n.156A>C c.87A>C c.944A>C (p.Gln315Pro)
2	g.85663393G>A	CA347487129	SFTPB	c.955C>T (p.Gln319Ter) c.991C>T (p.Gln331Ter) c.932C>T n.155C>T c.86C>T c.943C>T (p.Gln315Ter)	dbSNP gnomAD v4
2	g.85663393G>C	CA347487132	SFTPB	c.955C>G (p.Gln319Glu) c.991C>G (p.Gln331Glu) c.932C>G n.155C>G c.86C>G c.943C>G (p.Gln315Glu)
2	g.85663393G=	CA1266876892	SFTPB	c.955C= (p.Gln319=) c.991C= (p.Gln331=) c.932C= n.155C= c.86C= c.943C= (p.Gln315=)
2	g.85663393G>T	CA1743857	SFTPB	c.955C>A (p.Gln319Lys) c.991C>A (p.Gln331Lys) c.932C>A n.155C>A c.86C>A c.943C>A (p.Gln315Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663394T>A	CA427080619	SFTPB	c.954A>T (p.Pro318=) c.990A>T (p.Pro330=) c.931A>T n.154A>T c.85A>T c.942A>T (p.Pro314=)
2	g.85663394T>C	CA427080618	SFTPB	c.954A>G (p.Pro318=) c.990A>G (p.Pro330=) c.931A>G n.154A>G c.85A>G c.942A>G (p.Pro314=)
2	g.85663394T>G	CA427080617	SFTPB	c.954A>C (p.Pro318=) c.990A>C (p.Pro330=) c.931A>C n.154A>C c.85A>C c.942A>C (p.Pro314=)
2	g.85663395G>A	CA347487135	SFTPB	c.953C>T (p.Pro318Leu) c.989C>T (p.Pro330Leu) c.930C>T n.153C>T c.84C>T c.941C>T (p.Pro314Leu)	gnomAD v4
2	g.85663395G>C	CA347487139	SFTPB	c.953C>G (p.Pro318Arg) c.989C>G (p.Pro330Arg) c.930C>G n.153C>G c.84C>G c.941C>G (p.Pro314Arg)
2	g.85663395G>T	CA347487137	SFTPB	c.953C>A (p.Pro318Gln) c.989C>A (p.Pro330Gln) c.930C>A n.153C>A c.84C>A c.941C>A (p.Pro314Gln)
2	g.85663396G>A	CA347487141	SFTPB	c.952C>T (p.Pro318Ser) c.988C>T (p.Pro330Ser) c.929C>T n.152C>T c.83C>T c.940C>T (p.Pro314Ser)	gnomAD v4
2	g.85663396G>C	CA347487144	SFTPB	c.952C>G (p.Pro318Ala) c.988C>G (p.Pro330Ala) c.929C>G n.152C>G c.83C>G c.940C>G (p.Pro314Ala)
2	g.85663396G>T	CA347487146	SFTPB	c.952C>A (p.Pro318Thr) c.988C>A (p.Pro330Thr) c.929C>A n.152C>A c.83C>A c.940C>A (p.Pro314Thr)	COSMIC COSMIC
2	g.85663397T>A	CA427080620	SFTPB	c.951A>T (p.Ile317=) c.987A>T (p.Ile329=) c.928A>T n.151A>T c.82A>T c.939A>T (p.Ile313=)
2	g.85663397T>C	CA347487148	SFTPB	c.951A>G (p.Ile317Met) c.987A>G (p.Ile329Met) c.928A>G n.151A>G c.82A>G c.939A>G (p.Ile313Met)
2	g.85663397T>G	CA427080621	SFTPB	c.951A>C (p.Ile317=) c.987A>C (p.Ile329=) c.928A>C n.151A>C c.82A>C c.939A>C (p.Ile313=)
2	g.85663398A=	CA1266876893	SFTPB	c.950T= (p.Ile317=) c.986T= (p.Ile329=) c.927T= n.150T= c.81T= c.938T= (p.Ile313=)
2	g.85663398A>C	CA347487151	SFTPB	c.950T>G (p.Ile317Arg) c.986T>G (p.Ile329Arg) c.927T>G n.150T>G c.81T>G c.938T>G (p.Ile313Arg)
2	g.85663398A>G	CA347487152	SFTPB	c.950T>C (p.Ile317Thr) c.986T>C (p.Ile329Thr) c.927T>C n.150T>C c.81T>C c.938T>C (p.Ile313Thr)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.85663398A>T	CA347487155	SFTPB	c.950T>A (p.Ile317Lys) c.986T>A (p.Ile329Lys) c.927T>A n.150T>A c.81T>A c.938T>A (p.Ile313Lys)
2	g.85663399T>A	CA347487156	SFTPB	c.949A>T (p.Ile317Leu) c.985A>T (p.Ile329Leu) c.926A>T n.149A>T c.80A>T c.937A>T (p.Ile313Leu)
2	g.85663399T>C	CA347487157	SFTPB	c.949A>G (p.Ile317Val) c.985A>G (p.Ile329Val) c.926A>G n.149A>G c.80A>G c.937A>G (p.Ile313Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663399T>G	CA347487160	SFTPB	c.949A>C (p.Ile317Leu) c.985A>C (p.Ile329Leu) c.926A>C n.149A>C c.80A>C c.937A>C (p.Ile313Leu)
2	g.85663399T=	CA1266876894	SFTPB	c.949A= (p.Ile317=) c.985A= (p.Ile329=) c.926A= n.149A= c.80A= c.937A= (p.Ile313=)
2	g.85663400G>A	CA427080623	SFTPB	c.948C>T (p.Ala316=) c.984C>T (p.Ala328=) c.925C>T n.148C>T c.79C>T c.936C>T (p.Ala312=)
2	g.85663400G>C	CA427080624	SFTPB	c.948C>G (p.Ala316=) c.984C>G (p.Ala328=) c.925C>G n.148C>G c.79C>G c.936C>G (p.Ala312=)	gnomAD v4
2	g.85663400G>T	CA427080622	SFTPB	c.948C>A (p.Ala316=) c.984C>A (p.Ala328=) c.925C>A n.148C>A c.79C>A c.936C>A (p.Ala312=)
2	g.85663401G>A	CA347487163	SFTPB	c.947C>T (p.Ala316Val) c.983C>T (p.Ala328Val) c.924C>T n.147C>T c.78C>T c.935C>T (p.Ala312Val)
2	g.85663401G>C	CA347487165	SFTPB	c.947C>G (p.Ala316Gly) c.983C>G (p.Ala328Gly) c.924C>G n.147C>G c.78C>G c.935C>G (p.Ala312Gly)
2	g.85663401G>T	CA347487167	SFTPB	c.947C>A (p.Ala316Asp) c.983C>A (p.Ala328Asp) c.924C>A n.147C>A c.78C>A c.935C>A (p.Ala312Asp)
2	g.85663402C>A	CA347487173	SFTPB	c.946G>T (p.Ala316Ser) c.982G>T (p.Ala328Ser) c.923G>T n.146G>T c.77G>T c.934G>T (p.Ala312Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.85663402C=	CA1266876895	SFTPB	c.946G= (p.Ala316=) c.982G= (p.Ala328=) c.923G= n.146G= c.77G= c.934G= (p.Ala312=)
2	g.85663402C>G	CA347487172	SFTPB	c.946G>C (p.Ala316Pro) c.982G>C (p.Ala328Pro) c.923G>C n.146G>C c.77G>C c.934G>C (p.Ala312Pro)
2	g.85663402C>T	CA347487170	SFTPB	c.946G>A (p.Ala316Thr) c.982G>A (p.Ala328Thr) c.923G>A n.146G>A c.77G>A c.934G>A (p.Ala312Thr)	dbSNP gnomAD v4
2	g.85663403C>A	CA347487175	SFTPB	c.945G>T (p.Gln315His) c.981G>T (p.Gln327His) c.922G>T n.145G>T c.76G>T c.933G>T (p.Gln311His)
2	g.85663403C>G	CA347487177	SFTPB	c.945G>C (p.Gln315His) c.981G>C (p.Gln327His) c.922G>C n.145G>C c.76G>C c.933G>C (p.Gln311His)
2	g.85663403C>T	CA427080625	SFTPB	c.945G>A (p.Gln315=) c.981G>A (p.Gln327=) c.922G>A n.145G>A c.76G>A c.933G>A (p.Gln311=)	gnomAD v4
2	g.85663404T>A	CA347487179	SFTPB	c.944A>T (p.Gln315Leu) c.980A>T (p.Gln327Leu) c.921A>T n.144A>T c.75A>T c.932A>T (p.Gln311Leu)
2	g.85663404T>C	CA347487180	SFTPB	c.944A>G (p.Gln315Arg) c.980A>G (p.Gln327Arg) c.921A>G n.144A>G c.75A>G c.932A>G (p.Gln311Arg)
2	g.85663404T>G	CA347487182	SFTPB	c.944A>C (p.Gln315Pro) c.980A>C (p.Gln327Pro) c.921A>C n.144A>C c.75A>C c.932A>C (p.Gln311Pro)
2	g.85663405G>A	CA347487183	SFTPB	c.943C>T (p.Gln315Ter) c.979C>T (p.Gln327Ter) c.920C>T n.143C>T c.74C>T c.931C>T (p.Gln311Ter)	COSMIC COSMIC
2	g.85663405G>C	CA347487185	SFTPB	c.943C>G (p.Gln315Glu) c.979C>G (p.Gln327Glu) c.920C>G n.143C>G c.74C>G c.931C>G (p.Gln311Glu)
2	g.85663405G>T	CA347487187	SFTPB	c.943C>A (p.Gln315Lys) c.979C>A (p.Gln327Lys) c.920C>A n.143C>A c.74C>A c.931C>A (p.Gln311Lys)
2	g.85663406C>A	CA347487189	SFTPB	c.942G>T (p.Glu314Asp) c.978G>T (p.Glu326Asp) c.919G>T n.142G>T c.73G>T c.930G>T (p.Glu310Asp)
2	g.85663406C>G	CA347487191	SFTPB	c.942G>C (p.Glu314Asp) c.978G>C (p.Glu326Asp) c.919G>C n.142G>C c.73G>C c.930G>C (p.Glu310Asp)	gnomAD v4
2	g.85663406C>T	CA427080626	SFTPB	c.942G>A (p.Glu314=) c.978G>A (p.Glu326=) c.919G>A n.142G>A c.73G>A c.930G>A (p.Glu310=)	gnomAD v4
2	g.85663407T>A	CA347487194	SFTPB	c.941A>T (p.Glu314Val) c.977A>T (p.Glu326Val) c.918A>T n.141A>T c.72A>T c.929A>T (p.Glu310Val)
2	g.85663407T>C	CA347487195	SFTPB	c.941A>G (p.Glu314Gly) c.977A>G (p.Glu326Gly) c.918A>G n.141A>G c.72A>G c.929A>G (p.Glu310Gly)
2	g.85663407T>G	CA347487197	SFTPB	c.941A>C (p.Glu314Ala) c.977A>C (p.Glu326Ala) c.918A>C n.141A>C c.72A>C c.929A>C (p.Glu310Ala)
2	g.85663408C>A	CA347487201	SFTPB	c.940G>T (p.Glu314Ter) c.976G>T (p.Glu326Ter) c.917G>T n.140G>T c.71G>T c.928G>T (p.Glu310Ter)
2	g.85663408C=	CA1266876896	SFTPB	c.940G= (p.Glu314=) c.976G= (p.Glu326=) c.917G= n.140G= c.71G= c.928G= (p.Glu310=)
2	g.85663408C>G	CA51751170	SFTPB	c.940G>C (p.Glu314Gln) c.976G>C (p.Glu326Gln) c.917G>C n.140G>C c.71G>C c.928G>C (p.Glu310Gln)	dbSNP gnomAD v3 gnomAD v4
2	g.85663408C>T	CA51751177	SFTPB	c.940G>A (p.Glu314Lys) c.976G>A (p.Glu326Lys) c.917G>A n.140G>A c.71G>A c.928G>A (p.Glu310Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663409G>A	CA1743858	SFTPB	c.939C>T (p.Ser313=) c.975C>T (p.Ser325=) c.916C>T n.139C>T c.70C>T c.927C>T (p.Ser309=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.85663409G>C	CA51751205	SFTPB	c.939C>G (p.Ser313Arg) c.975C>G (p.Ser325Arg) c.916C>G n.139C>G c.70C>G c.927C>G (p.Ser309Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.85663409G=	CA1266876897	SFTPB	c.939C= (p.Ser313=) c.975C= (p.Ser325=) c.916C= n.139C= c.70C= c.927C= (p.Ser309=)
2	g.85663409G>T	CA347487205	SFTPB	c.939C>A (p.Ser313Arg) c.975C>A (p.Ser325Arg) c.916C>A n.139C>A c.70C>A c.927C>A (p.Ser309Arg)
2	g.85663410C>A	CA347487207	SFTPB	c.938G>T (p.Ser313Ile) c.974G>T (p.Ser325Ile) c.915G>T n.138G>T c.69G>T c.926G>T (p.Ser309Ile)	dbSNP
2	g.85663410C=	CA1266876898	SFTPB	c.938G= (p.Ser313=) c.974G= (p.Ser325=) c.915G= n.138G= c.69G= c.926G= (p.Ser309=)
2	g.85663410C>G	CA347487209	SFTPB	c.938G>C (p.Ser313Thr) c.974G>C (p.Ser325Thr) c.915G>C n.138G>C c.69G>C c.926G>C (p.Ser309Thr)
2	g.85663410C>T	CA51751210	SFTPB	c.938G>A (p.Ser313Asn) c.974G>A (p.Ser325Asn) c.915G>A n.138G>A c.69G>A c.926G>A (p.Ser309Asn)	dbSNP
2	g.85663411T>A	CA347487217	SFTPB	c.937A>T (p.Ser313Cys) c.973A>T (p.Ser325Cys) c.914A>T n.137A>T c.68A>T c.925A>T (p.Ser309Cys)
2	g.85663411T>C	CA347487212	SFTPB	c.937A>G (p.Ser313Gly) c.973A>G (p.Ser325Gly) c.914A>G n.137A>G c.68A>G c.925A>G (p.Ser309Gly)
2	g.85663411T>G	CA347487215	SFTPB	c.937A>C (p.Ser313Arg) c.973A>C (p.Ser325Arg) c.914A>C n.137A>C c.68A>C c.925A>C (p.Ser309Arg)
2	g.85663412G>A	CA427080627	SFTPB	c.936C>T (p.Ser312=) c.972C>T (p.Ser324=) c.913C>T n.136C>T c.67C>T c.924C>T (p.Ser308=)
2	g.85663412G>C	CA347487218	SFTPB	c.936C>G (p.Ser312Arg) c.972C>G (p.Ser324Arg) c.913C>G n.136C>G c.67C>G c.924C>G (p.Ser308Arg)
2	g.85663412G>T	CA347487220	SFTPB	c.936C>A (p.Ser312Arg) c.972C>A (p.Ser324Arg) c.913C>A n.136C>A c.67C>A c.924C>A (p.Ser308Arg)
2	g.85663413C>A	CA347487223	SFTPB	c.935G>T (p.Ser312Ile) c.971G>T (p.Ser324Ile) c.912G>T n.135G>T c.66G>T c.923G>T (p.Ser308Ile)
2	g.85663413C=	CA1266876899	SFTPB	c.935G= (p.Ser312=) c.971G= (p.Ser324=) c.912G= n.135G= c.66G= c.923G= (p.Ser308=)
2	g.85663413C>G	CA347487224	SFTPB	c.935G>C (p.Ser312Thr) c.971G>C (p.Ser324Thr) c.912G>C n.135G>C c.66G>C c.923G>C (p.Ser308Thr)	dbSNP
2	g.85663413C>T	CA347487226	SFTPB	c.935G>A (p.Ser312Asn) c.971G>A (p.Ser324Asn) c.912G>A n.135G>A c.66G>A c.923G>A (p.Ser308Asn)
2	g.85663414T>A	CA347487229	SFTPB	c.934A>T (p.Ser312Cys) c.970A>T (p.Ser324Cys) c.911A>T n.134A>T c.65A>T c.922A>T (p.Ser308Cys)
2	g.85663414T>C	CA347487233	SFTPB	c.934A>G (p.Ser312Gly) c.970A>G (p.Ser324Gly) c.911A>G n.134A>G c.65A>G c.922A>G (p.Ser308Gly)	gnomAD v4
2	g.85663414T>G	CA347487231	SFTPB	c.934A>C (p.Ser312Arg) c.970A>C (p.Ser324Arg) c.911A>C n.134A>C c.65A>C c.922A>C (p.Ser308Arg)
2	g.85663415G>A	CA427080628	SFTPB	c.933C>T (p.Asn311=) c.969C>T (p.Asn323=) c.910C>T n.133C>T c.64C>T c.921C>T (p.Asn307=)
2	g.85663415G>C	CA347487235	SFTPB	c.933C>G (p.Asn311Lys) c.969C>G (p.Asn323Lys) c.910C>G n.133C>G c.64C>G c.921C>G (p.Asn307Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.85663415G=	CA1266876901	SFTPB	c.933C= (p.Asn311=) c.969C= (p.Asn323=) c.910C= n.133C= c.64C= c.921C= (p.Asn307=)
2	g.85663415G>T	CA347487237	SFTPB	c.933C>A (p.Asn311Lys) c.969C>A (p.Asn323Lys) c.910C>A n.133C>A c.64C>A c.921C>A (p.Asn307Lys)
2	g.85663415_85663416delinsGT	CA1266876900	SFTPB	c.932_933delinsAC (p.Asn311=) c.968_969delinsAC (p.Asn323=) c.909_910delinsAC n.132_133delinsAC c.63_64delinsAC c.920_921delinsAC (p.Asn307=)
2	g.85663416T>A	CA347487239	SFTPB	c.932A>T (p.Asn311Ile) c.968A>T (p.Asn323Ile) c.909A>T n.132A>T c.63A>T c.920A>T (p.Asn307Ile)
2	g.85663416T>C	CA347487241	SFTPB	c.932A>G (p.Asn311Ser) c.968A>G (p.Asn323Ser) c.909A>G n.132A>G c.63A>G c.920A>G (p.Asn307Ser)
2	g.85663416T>G	CA347487242	SFTPB	c.932A>C (p.Asn311Thr) c.968A>C (p.Asn323Thr) c.909A>C n.132A>C c.63A>C c.920A>C (p.Asn307Thr)
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

Number of alleles fetched