Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.85663354T>ACA347486943SFTPBc.994A>T (p.Arg332Trp)
c.1030A>T (p.Arg344Trp)
c.971A>T
n.194A>T
c.125A>T
c.982A>T (p.Arg328Trp)
2g.85663354T>CCA51751120SFTPBc.994A>G (p.Arg332Gly)
c.1030A>G (p.Arg344Gly)
c.971A>G
n.194A>G
c.125A>G
c.982A>G (p.Arg328Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.85663354T>GCA427080593SFTPBc.994A>C (p.Arg332=)
c.1030A>C (p.Arg344=)
c.971A>C
n.194A>C
c.125A>C
c.982A>C (p.Arg328=)
2g.85663354T=CA1266876877SFTPBc.994A= (p.Arg332=)
c.1030A= (p.Arg344=)
c.971A=
n.194A=
c.125A=
c.982A= (p.Arg328=)
2g.85663355G>ACA427080594SFTPBc.993C>T (p.Asp331=)
c.1029C>T (p.Asp343=)
c.970C>T
n.193C>T
c.124C>T
c.981C>T (p.Asp327=)
 gnomAD v4
2g.85663355G>CCA347486945SFTPBc.993C>G (p.Asp331Glu)
c.1029C>G (p.Asp343Glu)
c.970C>G
n.193C>G
c.124C>G
c.981C>G (p.Asp327Glu)
2g.85663355G>TCA347486947SFTPBc.993C>A (p.Asp331Glu)
c.1029C>A (p.Asp343Glu)
c.970C>A
n.193C>A
c.124C>A
c.981C>A (p.Asp327Glu)
 gnomAD v4
2g.85663356T>ACA347486950SFTPBc.992A>T (p.Asp331Val)
c.1028A>T (p.Asp343Val)
c.969A>T
n.192A>T
c.123A>T
c.980A>T (p.Asp327Val)
2g.85663356T>CCA347486952SFTPBc.992A>G (p.Asp331Gly)
c.1028A>G (p.Asp343Gly)
c.969A>G
n.192A>G
c.123A>G
c.980A>G (p.Asp327Gly)
 dbSNP
2g.85663356T>GCA347486954SFTPBc.992A>C (p.Asp331Ala)
c.1028A>C (p.Asp343Ala)
c.969A>C
n.192A>C
c.123A>C
c.980A>C (p.Asp327Ala)
2g.85663356T=CA1266876878SFTPBc.992A= (p.Asp331=)
c.1028A= (p.Asp343=)
c.969A=
n.192A=
c.123A=
c.980A= (p.Asp327=)
2g.85663357C>ACA347486956SFTPBc.991G>T (p.Asp331Tyr)
c.1027G>T (p.Asp343Tyr)
c.968G>T
n.191G>T
c.122G>T
c.979G>T (p.Asp327Tyr)
2g.85663357C>GCA347486957SFTPBc.991G>C (p.Asp331His)
c.1027G>C (p.Asp343His)
c.968G>C
n.191G>C
c.122G>C
c.979G>C (p.Asp327His)
2g.85663357C>TCA347486960SFTPBc.991G>A (p.Asp331Asn)
c.1027G>A (p.Asp343Asn)
c.968G>A
n.191G>A
c.122G>A
c.979G>A (p.Asp327Asn)
 gnomAD v4
2g.85663358C>ACA427080595SFTPBc.990G>T (p.Leu330=)
c.1026G>T (p.Leu342=)
c.967G>T
n.190G>T
c.121G>T
c.978G>T (p.Leu326=)
2g.85663358C>GCA427080596SFTPBc.990G>C (p.Leu330=)
c.1026G>C (p.Leu342=)
c.967G>C
n.190G>C
c.121G>C
c.978G>C (p.Leu326=)
2g.85663358C>TCA427080597SFTPBc.990G>A (p.Leu330=)
c.1026G>A (p.Leu342=)
c.967G>A
n.190G>A
c.121G>A
c.978G>A (p.Leu326=)
2g.85663359A>CCA347486962SFTPBc.989T>G (p.Leu330Arg)
c.1025T>G (p.Leu342Arg)
c.966T>G
n.189T>G
c.120T>G
c.977T>G (p.Leu326Arg)
2g.85663359A>GCA347486963SFTPBc.989T>C (p.Leu330Pro)
c.1025T>C (p.Leu342Pro)
c.966T>C
n.189T>C
c.120T>C
c.977T>C (p.Leu326Pro)
2g.85663359A>TCA347486965SFTPBc.989T>A (p.Leu330Gln)
c.1025T>A (p.Leu342Gln)
c.966T>A
n.189T>A
c.120T>A
c.977T>A (p.Leu326Gln)
2g.85663360G>ACA427080598SFTPBc.988C>T (p.Leu330=)
c.1024C>T (p.Leu342=)
c.965C>T
n.188C>T
c.119C>T
c.976C>T (p.Leu326=)
2g.85663360G>CCA347486967SFTPBc.988C>G (p.Leu330Val)
c.1024C>G (p.Leu342Val)
c.965C>G
n.188C>G
c.119C>G
c.976C>G (p.Leu326Val)
2g.85663360G>TCA347486968SFTPBc.988C>A (p.Leu330Met)
c.1024C>A (p.Leu342Met)
c.965C>A
n.188C>A
c.119C>A
c.976C>A (p.Leu326Met)
 gnomAD v4
2g.85663361C>ACA347486972SFTPBc.987G>T (p.Trp329Cys)
c.1023G>T (p.Trp341Cys)
c.964G>T
n.187G>T
c.118G>T
c.975G>T (p.Trp325Cys)
2g.85663361C>GCA347486969SFTPBc.987G>C (p.Trp329Cys)
c.1023G>C (p.Trp341Cys)
c.964G>C
n.187G>C
c.118G>C
c.975G>C (p.Trp325Cys)
2g.85663361C>TCA347486971SFTPBc.987G>A (p.Trp329Ter)
c.1023G>A (p.Trp341Ter)
c.964G>A
n.187G>A
c.118G>A
c.975G>A (p.Trp325Ter)
2g.85663362C>ACA347486973SFTPBc.986G>T (p.Trp329Leu)
c.1022G>T (p.Trp341Leu)
c.963G>T
n.186G>T
c.117G>T
c.974G>T (p.Trp325Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663362C=CA1266876879SFTPBc.986G= (p.Trp329=)
c.1022G= (p.Trp341=)
c.963G=
n.186G=
c.117G=
c.974G= (p.Trp325=)
2g.85663362C>GCA347486976SFTPBc.986G>C (p.Trp329Ser)
c.1022G>C (p.Trp341Ser)
c.963G>C
n.186G>C
c.117G>C
c.974G>C (p.Trp325Ser)
 ClinVar
2g.85663362C>TCA1743852SFTPBc.986G>A (p.Trp329Ter)
c.1022G>A (p.Trp341Ter)
c.963G>A
n.186G>A
c.117G>A
c.974G>A (p.Trp325Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.85663363A>CCA347486980SFTPBc.985T>G (p.Trp329Gly)
c.1021T>G (p.Trp341Gly)
c.962T>G
n.185T>G
c.116T>G
c.973T>G (p.Trp325Gly)
2g.85663363A>GCA347486981SFTPBc.985T>C (p.Trp329Arg)
c.1021T>C (p.Trp341Arg)
c.962T>C
n.185T>C
c.116T>C
c.973T>C (p.Trp325Arg)
2g.85663363A>TCA347486983SFTPBc.985T>A (p.Trp329Arg)
c.1021T>A (p.Trp341Arg)
c.962T>A
n.185T>A
c.116T>A
c.973T>A (p.Trp325Arg)
2g.85663363_85663380delinsAGGAGCCAACACAGGCCTCA1266876880SFTPBc.968_985delinsAGGCCTGTGTTGGCTCCT (p.Gln323=)
c.1004_1021delinsAGGCCTGTGTTGGCTCCT (p.Gln335=)
c.945_962delinsAGGCCTGTGTTGGCTCCT
n.168_185delinsAGGCCTGTGTTGGCTCCT
c.99_116delinsAGGCCTGTGTTGGCTCCT
c.956_973delinsAGGCCTGTGTTGGCTCCT (p.Gln319=)
2g.85663364G>ACA1743854SFTPBc.984C>T (p.Ser328=)
c.1020C>T (p.Ser340=)
c.961C>T
n.184C>T
c.115C>T
c.972C>T (p.Ser324=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.85663364G>CCA427080600SFTPBc.984C>G (p.Ser328=)
c.1020C>G (p.Ser340=)
c.961C>G
n.184C>G
c.115C>G
c.972C>G (p.Ser324=)
2g.85663364G=CA1266876881SFTPBc.984C= (p.Ser328=)
c.1020C= (p.Ser340=)
c.961C=
n.184C=
c.115C=
c.972C= (p.Ser324=)
2g.85663364G>TCA427080599SFTPBc.984C>A (p.Ser328=)
c.1020C>A (p.Ser340=)
c.961C>A
n.184C>A
c.115C>A
c.972C>A (p.Ser324=)
2g.85663369_85663385delCA1743853SFTPBc.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
2g.85663365G>ACA347486988SFTPBc.983C>T (p.Ser328Phe)
c.1019C>T (p.Ser340Phe)
c.960C>T
n.183C>T
c.114C>T
c.971C>T (p.Ser324Phe)
2g.85663365G>CCA347486990SFTPBc.983C>G (p.Ser328Cys)
c.1019C>G (p.Ser340Cys)
c.960C>G
n.183C>G
c.114C>G
c.971C>G (p.Ser324Cys)
2g.85663365G=CA1266876882SFTPBc.983C= (p.Ser328=)
c.1019C= (p.Ser340=)
c.960C=
n.183C=
c.114C=
c.971C= (p.Ser324=)
2g.85663365G>TCA347486992SFTPBc.983C>A (p.Ser328Tyr)
c.1019C>A (p.Ser340Tyr)
c.960C>A
n.183C>A
c.114C>A
c.971C>A (p.Ser324Tyr)
 dbSNP gnomAD v2 COSMIC COSMIC
2g.85663366A>CCA347486998SFTPBc.982T>G (p.Ser328Ala)
c.1018T>G (p.Ser340Ala)
c.959T>G
n.182T>G
c.113T>G
c.970T>G (p.Ser324Ala)
2g.85663366A>GCA347486996SFTPBc.982T>C (p.Ser328Pro)
c.1018T>C (p.Ser340Pro)
c.959T>C
n.182T>C
c.113T>C
c.970T>C (p.Ser324Pro)
2g.85663366A>TCA347486994SFTPBc.982T>A (p.Ser328Thr)
c.1018T>A (p.Ser340Thr)
c.959T>A
n.182T>A
c.113T>A
c.970T>A (p.Ser324Thr)
2g.85663367G>ACA427080601SFTPBc.981C>T (p.Gly327=)
c.1017C>T (p.Gly339=)
c.958C>T
n.181C>T
c.112C>T
c.969C>T (p.Gly323=)
 dbSNP gnomAD v4
2g.85663367G>CCA427080602SFTPBc.981C>G (p.Gly327=)
c.1017C>G (p.Gly339=)
c.958C>G
n.181C>G
c.112C>G
c.969C>G (p.Gly323=)
2g.85663367G=CA1266876883SFTPBc.981C= (p.Gly327=)
c.1017C= (p.Gly339=)
c.958C=
n.181C=
c.112C=
c.969C= (p.Gly323=)
2g.85663367G>TCA427080603SFTPBc.981C>A (p.Gly327=)
c.1017C>A (p.Gly339=)
c.958C>A
n.181C>A
c.112C>A
c.969C>A (p.Gly323=)
2g.85663368C>ACA347487000SFTPBc.980G>T (p.Gly327Val)
c.1016G>T (p.Gly339Val)
c.957G>T
n.180G>T
c.111G>T
c.968G>T (p.Gly323Val)
2g.85663368C>GCA347487005SFTPBc.980G>C (p.Gly327Ala)
c.1016G>C (p.Gly339Ala)
c.957G>C
n.180G>C
c.111G>C
c.968G>C (p.Gly323Ala)
2g.85663368C>TCA347487002SFTPBc.980G>A (p.Gly327Asp)
c.1016G>A (p.Gly339Asp)
c.957G>A
n.180G>A
c.111G>A
c.968G>A (p.Gly323Asp)
2g.85663369C>ACA347487007SFTPBc.979G>T (p.Gly327Cys)
c.1015G>T (p.Gly339Cys)
c.956G>T
n.179G>T
c.110G>T
c.967G>T (p.Gly323Cys)
2g.85663369C>GCA347487008SFTPBc.979G>C (p.Gly327Arg)
c.1015G>C (p.Gly339Arg)
c.956G>C
n.179G>C
c.110G>C
c.967G>C (p.Gly323Arg)
2g.85663369C>TCA347487010SFTPBc.979G>A (p.Gly327Ser)
c.1015G>A (p.Gly339Ser)
c.956G>A
n.179G>A
c.110G>A
c.967G>A (p.Gly323Ser)
2g.85663370A=CA1266876884SFTPBc.978T= (p.Val326=)
c.1014T= (p.Val338=)
c.955T=
n.178T=
c.109T=
c.966T= (p.Val322=)
2g.85663370A>CCA427080605SFTPBc.978T>G (p.Val326=)
c.1014T>G (p.Val338=)
c.955T>G
n.178T>G
c.109T>G
c.966T>G (p.Val322=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663370A>GCA427080606SFTPBc.978T>C (p.Val326=)
c.1014T>C (p.Val338=)
c.955T>C
n.178T>C
c.109T>C
c.966T>C (p.Val322=)
 dbSNP
2g.85663370A>TCA427080604SFTPBc.978T>A (p.Val326=)
c.1014T>A (p.Val338=)
c.955T>A
n.178T>A
c.109T>A
c.966T>A (p.Val322=)
2g.85663371A>CCA347487013SFTPBc.977T>G (p.Val326Gly)
c.1013T>G (p.Val338Gly)
c.954T>G
n.177T>G
c.108T>G
c.965T>G (p.Val322Gly)
2g.85663371A>GCA347487015SFTPBc.977T>C (p.Val326Ala)
c.1013T>C (p.Val338Ala)
c.954T>C
n.177T>C
c.108T>C
c.965T>C (p.Val322Ala)
2g.85663371A>TCA347487017SFTPBc.977T>A (p.Val326Asp)
c.1013T>A (p.Val338Asp)
c.954T>A
n.177T>A
c.108T>A
c.965T>A (p.Val322Asp)
2g.85663372C>ACA347487020SFTPBc.976G>T (p.Val326Phe)
c.1012G>T (p.Val338Phe)
c.953G>T
n.176G>T
c.107G>T
c.964G>T (p.Val322Phe)
2g.85663372C>GCA347487021SFTPBc.976G>C (p.Val326Leu)
c.1012G>C (p.Val338Leu)
c.953G>C
n.176G>C
c.107G>C
c.964G>C (p.Val322Leu)
2g.85663372C>TCA347487023SFTPBc.976G>A (p.Val326Ile)
c.1012G>A (p.Val338Ile)
c.953G>A
n.176G>A
c.107G>A
c.964G>A (p.Val322Ile)
 COSMIC COSMIC
2g.85663373A>CCA347487025SFTPBc.975T>G (p.Cys325Trp)
c.1011T>G (p.Cys337Trp)
c.952T>G
n.175T>G
c.106T>G
c.963T>G (p.Cys321Trp)
2g.85663373A>GCA427080607SFTPBc.975T>C (p.Cys325=)
c.1011T>C (p.Cys337=)
c.952T>C
n.175T>C
c.106T>C
c.963T>C (p.Cys321=)
2g.85663373A>TCA347487027SFTPBc.975T>A (p.Cys325Ter)
c.1011T>A (p.Cys337Ter)
c.952T>A
n.175T>A
c.106T>A
c.963T>A (p.Cys321Ter)
2g.85663374C>ACA347487033SFTPBc.974G>T (p.Cys325Phe)
c.1010G>T (p.Cys337Phe)
c.951G>T
n.174G>T
c.105G>T
c.962G>T (p.Cys321Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.85663374C=CA1266876885SFTPBc.974G= (p.Cys325=)
c.1010G= (p.Cys337=)
c.951G=
n.174G=
c.105G=
c.962G= (p.Cys321=)
2g.85663374C>GCA347487031SFTPBc.974G>C (p.Cys325Ser)
c.1010G>C (p.Cys337Ser)
c.951G>C
n.174G>C
c.105G>C
c.962G>C (p.Cys321Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.85663374C>TCA347487029SFTPBc.974G>A (p.Cys325Tyr)
c.1010G>A (p.Cys337Tyr)
c.951G>A
n.174G>A
c.105G>A
c.962G>A (p.Cys321Tyr)
2g.85663375A=CA1266876886SFTPBc.973T= (p.Cys325=)
c.1009T= (p.Cys337=)
c.950T=
n.173T=
c.104T=
c.961T= (p.Cys321=)
2g.85663375A>CCA51751135SFTPBc.973T>G (p.Cys325Gly)
c.1009T>G (p.Cys337Gly)
c.950T>G
n.173T>G
c.104T>G
c.961T>G (p.Cys321Gly)
 dbSNP gnomAD v4
2g.85663375A>GCA347487036SFTPBc.973T>C (p.Cys325Arg)
c.1009T>C (p.Cys337Arg)
c.950T>C
n.173T>C
c.104T>C
c.961T>C (p.Cys321Arg)
2g.85663375A>TCA347487038SFTPBc.973T>A (p.Cys325Ser)
c.1009T>A (p.Cys337Ser)
c.950T>A
n.173T>A
c.104T>A
c.961T>A (p.Cys321Ser)
2g.85663376G>ACA427080609SFTPBc.972C>T (p.Ala324=)
c.1008C>T (p.Ala336=)
c.949C>T
n.172C>T
c.103C>T
c.960C>T (p.Ala320=)
2g.85663376G>CCA427080608SFTPBc.972C>G (p.Ala324=)
c.1008C>G (p.Ala336=)
c.949C>G
n.172C>G
c.103C>G
c.960C>G (p.Ala320=)
2g.85663376G=CA1266876887SFTPBc.972C= (p.Ala324=)
c.1008C= (p.Ala336=)
c.949C=
n.172C=
c.103C=
c.960C= (p.Ala320=)
2g.85663376G>TCA1743855SFTPBc.972C>A (p.Ala324=)
c.1008C>A (p.Ala336=)
c.949C>A
n.172C>A
c.103C>A
c.960C>A (p.Ala320=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663377G>ACA347487041SFTPBc.971C>T (p.Ala324Val)
c.1007C>T (p.Ala336Val)
c.948C>T
n.171C>T
c.102C>T
c.959C>T (p.Ala320Val)
2g.85663377G>CCA347487044SFTPBc.971C>G (p.Ala324Gly)
c.1007C>G (p.Ala336Gly)
c.948C>G
n.171C>G
c.102C>G
c.959C>G (p.Ala320Gly)
2g.85663377G>TCA347487045SFTPBc.971C>A (p.Ala324Asp)
c.1007C>A (p.Ala336Asp)
c.948C>A
n.171C>A
c.102C>A
c.959C>A (p.Ala320Asp)
 gnomAD v4
2g.85663378C>ACA347487048SFTPBc.970G>T (p.Ala324Ser)
c.1006G>T (p.Ala336Ser)
c.947G>T
n.170G>T
c.101G>T
c.958G>T (p.Ala320Ser)
2g.85663378C>GCA347487050SFTPBc.970G>C (p.Ala324Pro)
c.1006G>C (p.Ala336Pro)
c.947G>C
n.170G>C
c.101G>C
c.958G>C (p.Ala320Pro)
2g.85663378C>TCA347487052SFTPBc.970G>A (p.Ala324Thr)
c.1006G>A (p.Ala336Thr)
c.947G>A
n.170G>A
c.101G>A
c.958G>A (p.Ala320Thr)
2g.85663379C>ACA347487055SFTPBc.969G>T (p.Gln323His)
c.1005G>T (p.Gln335His)
c.946G>T
n.169G>T
c.100G>T
c.957G>T (p.Gln319His)
2g.85663379C>GCA347487057SFTPBc.969G>C (p.Gln323His)
c.1005G>C (p.Gln335His)
c.946G>C
n.169G>C
c.100G>C
c.957G>C (p.Gln319His)
2g.85663379C>TCA427080610SFTPBc.969G>A (p.Gln323=)
c.1005G>A (p.Gln335=)
c.946G>A
n.169G>A
c.100G>A
c.957G>A (p.Gln319=)
2g.85663380T>ACA347487064SFTPBc.968A>T (p.Gln323Leu)
c.1004A>T (p.Gln335Leu)
c.945A>T
n.168A>T
c.99A>T
c.956A>T (p.Gln319Leu)
2g.85663380T>CCA347487061SFTPBc.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
2g.85663380T>GCA347487059SFTPBc.968A>C (p.Gln323Pro)
c.1004A>C (p.Gln335Pro)
c.945A>C
n.168A>C
c.99A>C
c.956A>C (p.Gln319Pro)
2g.85663380T=CA1266876888SFTPBc.968A= (p.Gln323=)
c.1004A= (p.Gln335=)
c.945A=
n.168A=
c.99A=
c.956A= (p.Gln319=)
2g.85663381G>ACA347487067SFTPBc.967C>T (p.Gln323Ter)
c.1003C>T (p.Gln335Ter)
c.944C>T
n.167C>T
c.98C>T
c.955C>T (p.Gln319Ter)
2g.85663381G>CCA347487069SFTPBc.967C>G (p.Gln323Glu)
c.1003C>G (p.Gln335Glu)
c.944C>G
n.167C>G
c.98C>G
c.955C>G (p.Gln319Glu)
2g.85663381G>TCA347487071SFTPBc.967C>A (p.Gln323Lys)
c.1003C>A (p.Gln335Lys)
c.944C>A
n.167C>A
c.98C>A
c.955C>A (p.Gln319Lys)
2g.85663382G>ACA427080611SFTPBc.966C>T (p.Leu322=)
c.1002C>T (p.Leu334=)
c.943C>T
n.166C>T
c.97C>T
c.954C>T (p.Leu318=)
2g.85663382G>CCA427080612SFTPBc.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
2g.85663382G>TCA427080613SFTPBc.966C>A (p.Leu322=)
c.1002C>A (p.Leu334=)
c.943C>A
n.166C>A
c.97C>A
c.954C>A (p.Leu318=)
2g.85663383A>CCA347487074SFTPBc.965T>G (p.Leu322Arg)
c.1001T>G (p.Leu334Arg)
c.942T>G
n.165T>G
c.96T>G
c.953T>G (p.Leu318Arg)
2g.85663383A>GCA347487076SFTPBc.965T>C (p.Leu322Pro)
c.1001T>C (p.Leu334Pro)
c.942T>C
n.165T>C
c.96T>C
c.953T>C (p.Leu318Pro)
2g.85663383A>TCA347487078SFTPBc.965T>A (p.Leu322His)
c.1001T>A (p.Leu334His)
c.942T>A
n.165T>A
c.96T>A
c.953T>A (p.Leu318His)
2g.85663384G>ACA51751139SFTPBc.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
2g.85663384G>CCA347487082SFTPBc.964C>G (p.Leu322Val)
c.1000C>G (p.Leu334Val)
c.941C>G
n.164C>G
c.95C>G
c.952C>G (p.Leu318Val)
2g.85663384G=CA1266876889SFTPBc.964C= (p.Leu322=)
c.1000C= (p.Leu334=)
c.941C=
n.164C=
c.95C=
c.952C= (p.Leu318=)
2g.85663384G>TCA347487084SFTPBc.964C>A (p.Leu322Ile)
c.1000C>A (p.Leu334Ile)
c.941C>A
n.164C>A
c.95C>A
c.952C>A (p.Leu318Ile)
2g.85663385C>ACA347487086SFTPBc.963G>T (p.Met321Ile)
c.999G>T (p.Met333Ile)
c.940G>T
n.163G>T
c.94G>T
c.951G>T (p.Met317Ile)
2g.85663385C>GCA347487088SFTPBc.963G>C (p.Met321Ile)
c.999G>C (p.Met333Ile)
c.940G>C
n.163G>C
c.94G>C
c.951G>C (p.Met317Ile)
2g.85663385C>TCA347487090SFTPBc.963G>A (p.Met321Ile)
c.999G>A (p.Met333Ile)
c.940G>A
n.163G>A
c.94G>A
c.951G>A (p.Met317Ile)
2g.85663386A>CCA347487097SFTPBc.962T>G (p.Met321Arg)
c.998T>G (p.Met333Arg)
c.939T>G
n.162T>G
c.93T>G
c.950T>G (p.Met317Arg)
2g.85663386A>GCA347487095SFTPBc.962T>C (p.Met321Thr)
c.998T>C (p.Met333Thr)
c.939T>C
n.162T>C
c.93T>C
c.950T>C (p.Met317Thr)
2g.85663386A>TCA347487092SFTPBc.962T>A (p.Met321Lys)
c.998T>A (p.Met333Lys)
c.939T>A
n.162T>A
c.93T>A
c.950T>A (p.Met317Lys)
2g.85663387T>ACA347487100SFTPBc.961A>T (p.Met321Leu)
c.997A>T (p.Met333Leu)
c.938A>T
n.161A>T
c.92A>T
c.949A>T (p.Met317Leu)
2g.85663387T>CCA347487101SFTPBc.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
2g.85663387T>GCA347487103SFTPBc.961A>C (p.Met321Leu)
c.997A>C (p.Met333Leu)
c.938A>C
n.161A>C
c.92A>C
c.949A>C (p.Met317Leu)
2g.85663388T>ACA427080614SFTPBc.960A>T (p.Ala320=)
c.996A>T (p.Ala332=)
c.937A>T
n.160A>T
c.91A>T
c.948A>T (p.Ala316=)
2g.85663388T>CCA1743856SFTPBc.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
2g.85663388T>GCA427080615SFTPBc.960A>C (p.Ala320=)
c.996A>C (p.Ala332=)
c.937A>C
n.160A>C
c.91A>C
c.948A>C (p.Ala316=)
2g.85663388T=CA1266876890SFTPBc.960A= (p.Ala320=)
c.996A= (p.Ala332=)
c.937A=
n.160A=
c.91A=
c.948A= (p.Ala316=)
2g.85663389G>ACA347487107SFTPBc.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
2g.85663389G>CCA347487109SFTPBc.959C>G (p.Ala320Gly)
c.995C>G (p.Ala332Gly)
c.936C>G
n.159C>G
c.90C>G
c.947C>G (p.Ala316Gly)
2g.85663389G>TCA347487111SFTPBc.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
2g.85663390C>ACA347487114SFTPBc.958G>T (p.Ala320Ser)
c.994G>T (p.Ala332Ser)
c.935G>T
n.158G>T
c.89G>T
c.946G>T (p.Ala316Ser)
 dbSNP
2g.85663390C=CA1266876891SFTPBc.958G= (p.Ala320=)
c.994G= (p.Ala332=)
c.935G=
n.158G=
c.89G=
c.946G= (p.Ala316=)
2g.85663390C>GCA347487115SFTPBc.958G>C (p.Ala320Pro)
c.994G>C (p.Ala332Pro)
c.935G>C
n.158G>C
c.89G>C
c.946G>C (p.Ala316Pro)
2g.85663390C>TCA347487118SFTPBc.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
2g.85663391C>ACA347487120SFTPBc.957G>T (p.Gln319His)
c.993G>T (p.Gln331His)
c.934G>T
n.157G>T
c.88G>T
c.945G>T (p.Gln315His)
2g.85663391C>GCA347487121SFTPBc.957G>C (p.Gln319His)
c.993G>C (p.Gln331His)
c.934G>C
n.157G>C
c.88G>C
c.945G>C (p.Gln315His)
2g.85663391C>TCA427080616SFTPBc.957G>A (p.Gln319=)
c.993G>A (p.Gln331=)
c.934G>A
n.157G>A
c.88G>A
c.945G>A (p.Gln315=)
2g.85663392T>ACA347487128SFTPBc.956A>T (p.Gln319Leu)
c.992A>T (p.Gln331Leu)
c.933A>T
n.156A>T
c.87A>T
c.944A>T (p.Gln315Leu)
2g.85663392T>CCA347487126SFTPBc.956A>G (p.Gln319Arg)
c.992A>G (p.Gln331Arg)
c.933A>G
n.156A>G
c.87A>G
c.944A>G (p.Gln315Arg)
2g.85663392T>GCA347487123SFTPBc.956A>C (p.Gln319Pro)
c.992A>C (p.Gln331Pro)
c.933A>C
n.156A>C
c.87A>C
c.944A>C (p.Gln315Pro)
2g.85663393G>ACA347487129SFTPBc.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
2g.85663393G>CCA347487132SFTPBc.955C>G (p.Gln319Glu)
c.991C>G (p.Gln331Glu)
c.932C>G
n.155C>G
c.86C>G
c.943C>G (p.Gln315Glu)
2g.85663393G=CA1266876892SFTPBc.955C= (p.Gln319=)
c.991C= (p.Gln331=)
c.932C=
n.155C=
c.86C=
c.943C= (p.Gln315=)
2g.85663393G>TCA1743857SFTPBc.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
2g.85663394T>ACA427080619SFTPBc.954A>T (p.Pro318=)
c.990A>T (p.Pro330=)
c.931A>T
n.154A>T
c.85A>T
c.942A>T (p.Pro314=)
2g.85663394T>CCA427080618SFTPBc.954A>G (p.Pro318=)
c.990A>G (p.Pro330=)
c.931A>G
n.154A>G
c.85A>G
c.942A>G (p.Pro314=)
2g.85663394T>GCA427080617SFTPBc.954A>C (p.Pro318=)
c.990A>C (p.Pro330=)
c.931A>C
n.154A>C
c.85A>C
c.942A>C (p.Pro314=)
2g.85663395G>ACA347487135SFTPBc.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
2g.85663395G>CCA347487139SFTPBc.953C>G (p.Pro318Arg)
c.989C>G (p.Pro330Arg)
c.930C>G
n.153C>G
c.84C>G
c.941C>G (p.Pro314Arg)
2g.85663395G>TCA347487137SFTPBc.953C>A (p.Pro318Gln)
c.989C>A (p.Pro330Gln)
c.930C>A
n.153C>A
c.84C>A
c.941C>A (p.Pro314Gln)
2g.85663396G>ACA347487141SFTPBc.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
2g.85663396G>CCA347487144SFTPBc.952C>G (p.Pro318Ala)
c.988C>G (p.Pro330Ala)
c.929C>G
n.152C>G
c.83C>G
c.940C>G (p.Pro314Ala)
2g.85663396G>TCA347487146SFTPBc.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
2g.85663397T>ACA427080620SFTPBc.951A>T (p.Ile317=)
c.987A>T (p.Ile329=)
c.928A>T
n.151A>T
c.82A>T
c.939A>T (p.Ile313=)
2g.85663397T>CCA347487148SFTPBc.951A>G (p.Ile317Met)
c.987A>G (p.Ile329Met)
c.928A>G
n.151A>G
c.82A>G
c.939A>G (p.Ile313Met)
2g.85663397T>GCA427080621SFTPBc.951A>C (p.Ile317=)
c.987A>C (p.Ile329=)
c.928A>C
n.151A>C
c.82A>C
c.939A>C (p.Ile313=)
2g.85663398A=CA1266876893SFTPBc.950T= (p.Ile317=)
c.986T= (p.Ile329=)
c.927T=
n.150T=
c.81T=
c.938T= (p.Ile313=)
2g.85663398A>CCA347487151SFTPBc.950T>G (p.Ile317Arg)
c.986T>G (p.Ile329Arg)
c.927T>G
n.150T>G
c.81T>G
c.938T>G (p.Ile313Arg)
2g.85663398A>GCA347487152SFTPBc.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
2g.85663398A>TCA347487155SFTPBc.950T>A (p.Ile317Lys)
c.986T>A (p.Ile329Lys)
c.927T>A
n.150T>A
c.81T>A
c.938T>A (p.Ile313Lys)
2g.85663399T>ACA347487156SFTPBc.949A>T (p.Ile317Leu)
c.985A>T (p.Ile329Leu)
c.926A>T
n.149A>T
c.80A>T
c.937A>T (p.Ile313Leu)
2g.85663399T>CCA347487157SFTPBc.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
2g.85663399T>GCA347487160SFTPBc.949A>C (p.Ile317Leu)
c.985A>C (p.Ile329Leu)
c.926A>C
n.149A>C
c.80A>C
c.937A>C (p.Ile313Leu)
2g.85663399T=CA1266876894SFTPBc.949A= (p.Ile317=)
c.985A= (p.Ile329=)
c.926A=
n.149A=
c.80A=
c.937A= (p.Ile313=)
2g.85663400G>ACA427080623SFTPBc.948C>T (p.Ala316=)
c.984C>T (p.Ala328=)
c.925C>T
n.148C>T
c.79C>T
c.936C>T (p.Ala312=)
2g.85663400G>CCA427080624SFTPBc.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
2g.85663400G>TCA427080622SFTPBc.948C>A (p.Ala316=)
c.984C>A (p.Ala328=)
c.925C>A
n.148C>A
c.79C>A
c.936C>A (p.Ala312=)
2g.85663401G>ACA347487163SFTPBc.947C>T (p.Ala316Val)
c.983C>T (p.Ala328Val)
c.924C>T
n.147C>T
c.78C>T
c.935C>T (p.Ala312Val)
2g.85663401G>CCA347487165SFTPBc.947C>G (p.Ala316Gly)
c.983C>G (p.Ala328Gly)
c.924C>G
n.147C>G
c.78C>G
c.935C>G (p.Ala312Gly)
2g.85663401G>TCA347487167SFTPBc.947C>A (p.Ala316Asp)
c.983C>A (p.Ala328Asp)
c.924C>A
n.147C>A
c.78C>A
c.935C>A (p.Ala312Asp)
2g.85663402C>ACA347487173SFTPBc.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
2g.85663402C=CA1266876895SFTPBc.946G= (p.Ala316=)
c.982G= (p.Ala328=)
c.923G=
n.146G=
c.77G=
c.934G= (p.Ala312=)
2g.85663402C>GCA347487172SFTPBc.946G>C (p.Ala316Pro)
c.982G>C (p.Ala328Pro)
c.923G>C
n.146G>C
c.77G>C
c.934G>C (p.Ala312Pro)
2g.85663402C>TCA347487170SFTPBc.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
2g.85663403C>ACA347487175SFTPBc.945G>T (p.Gln315His)
c.981G>T (p.Gln327His)
c.922G>T
n.145G>T
c.76G>T
c.933G>T (p.Gln311His)
2g.85663403C>GCA347487177SFTPBc.945G>C (p.Gln315His)
c.981G>C (p.Gln327His)
c.922G>C
n.145G>C
c.76G>C
c.933G>C (p.Gln311His)
2g.85663403C>TCA427080625SFTPBc.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
2g.85663404T>ACA347487179SFTPBc.944A>T (p.Gln315Leu)
c.980A>T (p.Gln327Leu)
c.921A>T
n.144A>T
c.75A>T
c.932A>T (p.Gln311Leu)
2g.85663404T>CCA347487180SFTPBc.944A>G (p.Gln315Arg)
c.980A>G (p.Gln327Arg)
c.921A>G
n.144A>G
c.75A>G
c.932A>G (p.Gln311Arg)
2g.85663404T>GCA347487182SFTPBc.944A>C (p.Gln315Pro)
c.980A>C (p.Gln327Pro)
c.921A>C
n.144A>C
c.75A>C
c.932A>C (p.Gln311Pro)
2g.85663405G>ACA347487183SFTPBc.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
2g.85663405G>CCA347487185SFTPBc.943C>G (p.Gln315Glu)
c.979C>G (p.Gln327Glu)
c.920C>G
n.143C>G
c.74C>G
c.931C>G (p.Gln311Glu)
2g.85663405G>TCA347487187SFTPBc.943C>A (p.Gln315Lys)
c.979C>A (p.Gln327Lys)
c.920C>A
n.143C>A
c.74C>A
c.931C>A (p.Gln311Lys)
2g.85663406C>ACA347487189SFTPBc.942G>T (p.Glu314Asp)
c.978G>T (p.Glu326Asp)
c.919G>T
n.142G>T
c.73G>T
c.930G>T (p.Glu310Asp)
2g.85663406C>GCA347487191SFTPBc.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
2g.85663406C>TCA427080626SFTPBc.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
2g.85663407T>ACA347487194SFTPBc.941A>T (p.Glu314Val)
c.977A>T (p.Glu326Val)
c.918A>T
n.141A>T
c.72A>T
c.929A>T (p.Glu310Val)
2g.85663407T>CCA347487195SFTPBc.941A>G (p.Glu314Gly)
c.977A>G (p.Glu326Gly)
c.918A>G
n.141A>G
c.72A>G
c.929A>G (p.Glu310Gly)
2g.85663407T>GCA347487197SFTPBc.941A>C (p.Glu314Ala)
c.977A>C (p.Glu326Ala)
c.918A>C
n.141A>C
c.72A>C
c.929A>C (p.Glu310Ala)
2g.85663408C>ACA347487201SFTPBc.940G>T (p.Glu314Ter)
c.976G>T (p.Glu326Ter)
c.917G>T
n.140G>T
c.71G>T
c.928G>T (p.Glu310Ter)
2g.85663408C=CA1266876896SFTPBc.940G= (p.Glu314=)
c.976G= (p.Glu326=)
c.917G=
n.140G=
c.71G=
c.928G= (p.Glu310=)
2g.85663408C>GCA51751170SFTPBc.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
2g.85663408C>TCA51751177SFTPBc.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
2g.85663409G>ACA1743858SFTPBc.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
2g.85663409G>CCA51751205SFTPBc.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
2g.85663409G=CA1266876897SFTPBc.939C= (p.Ser313=)
c.975C= (p.Ser325=)
c.916C=
n.139C=
c.70C=
c.927C= (p.Ser309=)
2g.85663409G>TCA347487205SFTPBc.939C>A (p.Ser313Arg)
c.975C>A (p.Ser325Arg)
c.916C>A
n.139C>A
c.70C>A
c.927C>A (p.Ser309Arg)
2g.85663410C>ACA347487207SFTPBc.938G>T (p.Ser313Ile)
c.974G>T (p.Ser325Ile)
c.915G>T
n.138G>T
c.69G>T
c.926G>T (p.Ser309Ile)
 dbSNP
2g.85663410C=CA1266876898SFTPBc.938G= (p.Ser313=)
c.974G= (p.Ser325=)
c.915G=
n.138G=
c.69G=
c.926G= (p.Ser309=)
2g.85663410C>GCA347487209SFTPBc.938G>C (p.Ser313Thr)
c.974G>C (p.Ser325Thr)
c.915G>C
n.138G>C
c.69G>C
c.926G>C (p.Ser309Thr)
2g.85663410C>TCA51751210SFTPBc.938G>A (p.Ser313Asn)
c.974G>A (p.Ser325Asn)
c.915G>A
n.138G>A
c.69G>A
c.926G>A (p.Ser309Asn)
 dbSNP
2g.85663411T>ACA347487217SFTPBc.937A>T (p.Ser313Cys)
c.973A>T (p.Ser325Cys)
c.914A>T
n.137A>T
c.68A>T
c.925A>T (p.Ser309Cys)
2g.85663411T>CCA347487212SFTPBc.937A>G (p.Ser313Gly)
c.973A>G (p.Ser325Gly)
c.914A>G
n.137A>G
c.68A>G
c.925A>G (p.Ser309Gly)
2g.85663411T>GCA347487215SFTPBc.937A>C (p.Ser313Arg)
c.973A>C (p.Ser325Arg)
c.914A>C
n.137A>C
c.68A>C
c.925A>C (p.Ser309Arg)
2g.85663412G>ACA427080627SFTPBc.936C>T (p.Ser312=)
c.972C>T (p.Ser324=)
c.913C>T
n.136C>T
c.67C>T
c.924C>T (p.Ser308=)
2g.85663412G>CCA347487218SFTPBc.936C>G (p.Ser312Arg)
c.972C>G (p.Ser324Arg)
c.913C>G
n.136C>G
c.67C>G
c.924C>G (p.Ser308Arg)
2g.85663412G>TCA347487220SFTPBc.936C>A (p.Ser312Arg)
c.972C>A (p.Ser324Arg)
c.913C>A
n.136C>A
c.67C>A
c.924C>A (p.Ser308Arg)
2g.85663413C>ACA347487223SFTPBc.935G>T (p.Ser312Ile)
c.971G>T (p.Ser324Ile)
c.912G>T
n.135G>T
c.66G>T
c.923G>T (p.Ser308Ile)
2g.85663413C=CA1266876899SFTPBc.935G= (p.Ser312=)
c.971G= (p.Ser324=)
c.912G=
n.135G=
c.66G=
c.923G= (p.Ser308=)
2g.85663413C>GCA347487224SFTPBc.935G>C (p.Ser312Thr)
c.971G>C (p.Ser324Thr)
c.912G>C
n.135G>C
c.66G>C
c.923G>C (p.Ser308Thr)
 dbSNP
2g.85663413C>TCA347487226SFTPBc.935G>A (p.Ser312Asn)
c.971G>A (p.Ser324Asn)
c.912G>A
n.135G>A
c.66G>A
c.923G>A (p.Ser308Asn)
2g.85663414T>ACA347487229SFTPBc.934A>T (p.Ser312Cys)
c.970A>T (p.Ser324Cys)
c.911A>T
n.134A>T
c.65A>T
c.922A>T (p.Ser308Cys)
2g.85663414T>CCA347487233SFTPBc.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
2g.85663414T>GCA347487231SFTPBc.934A>C (p.Ser312Arg)
c.970A>C (p.Ser324Arg)
c.911A>C
n.134A>C
c.65A>C
c.922A>C (p.Ser308Arg)
2g.85663415G>ACA427080628SFTPBc.933C>T (p.Asn311=)
c.969C>T (p.Asn323=)
c.910C>T
n.133C>T
c.64C>T
c.921C>T (p.Asn307=)
2g.85663415G>CCA347487235SFTPBc.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
2g.85663415G=CA1266876901SFTPBc.933C= (p.Asn311=)
c.969C= (p.Asn323=)
c.910C=
n.133C=
c.64C=
c.921C= (p.Asn307=)
2g.85663415G>TCA347487237SFTPBc.933C>A (p.Asn311Lys)
c.969C>A (p.Asn323Lys)
c.910C>A
n.133C>A
c.64C>A
c.921C>A (p.Asn307Lys)
2g.85663415_85663416delinsGTCA1266876900SFTPBc.932_933delinsAC (p.Asn311=)
c.968_969delinsAC (p.Asn323=)
c.909_910delinsAC
n.132_133delinsAC
c.63_64delinsAC
c.920_921delinsAC (p.Asn307=)
2g.85663416T>ACA347487239SFTPBc.932A>T (p.Asn311Ile)
c.968A>T (p.Asn323Ile)
c.909A>T
n.132A>T
c.63A>T
c.920A>T (p.Asn307Ile)
2g.85663416T>CCA347487241SFTPBc.932A>G (p.Asn311Ser)
c.968A>G (p.Asn323Ser)
c.909A>G
n.132A>G
c.63A>G
c.920A>G (p.Asn307Ser)
2g.85663416T>GCA347487242SFTPBc.932A>C (p.Asn311Thr)
c.968A>C (p.Asn323Thr)
c.909A>C
n.132A>C
c.63A>C
c.920A>C (p.Asn307Thr)
2g.85663417delCA1266876902SFTPBc.932del (p.Asn311ThrfsTer?)
c.968del (p.Asn323ThrfsTer?)
c.909del
n.132del
c.63del
c.920del (p.Asn307ThrfsTer?)
 dbSNP gnomAD v4
2g.85663417T>ACA347487243SFTPBc.931A>T (p.Asn311Tyr)
c.967A>T (p.Asn323Tyr)
c.908A>T
n.131A>T
c.62A>T
c.919A>T (p.Asn307Tyr)
2g.85663417T>CCA347487244SFTPBc.931A>G (p.Asn311Asp)
c.967A>G (p.Asn323Asp)
c.908A>G
n.131A>G
c.62A>G
c.919A>G (p.Asn307Asp)
2g.85663417T>GCA347487245SFTPBc.931A>C (p.Asn311His)
c.967A>C (p.Asn323His)
c.908A>C
n.131A>C
c.62A>C
c.919A>C (p.Asn307His)
2g.85663418C>ACA427080629SFTPBc.930G>T (p.Gly310=)
c.966G>T (p.Gly322=)
c.907G>T
n.130G>T
c.61G>T
c.918G>T (p.Gly306=)
2g.85663418C=CA1266876903SFTPBc.930G= (p.Gly310=)
c.966G= (p.Gly322=)
c.907G=
n.130G=
c.61G=
c.918G= (p.Gly306=)
2g.85663418C>GCA427080630SFTPBc.930G>C (p.Gly310=)
c.966G>C (p.Gly322=)
c.907G>C
n.130G>C
c.61G>C
c.918G>C (p.Gly306=)
2g.85663418C>TCA427080631SFTPBc.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
2g.85663419C>ACA347487246SFTPBc.929G>T (p.Gly310Val)
c.965G>T (p.Gly322Val)
c.906G>T
n.129G>T
c.60G>T
c.917G>T (p.Gly306Val)
2g.85663419C=CA1266876905SFTPBc.929G= (p.Gly310=)
c.965G= (p.Gly322=)
c.906G=
n.129G=
c.60G=
c.917G= (p.Gly306=)
2g.85663419C>GCA347487247SFTPBc.929G>C (p.Gly310Ala)
c.965G>C (p.Gly322Ala)
c.906G>C
n.129G>C
c.60G>C
c.917G>C (p.Gly306Ala)
2g.85663419C>TCA347487248SFTPBc.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
2g.85663419_85663422delinsCCGGCA1266876904SFTPBc.926_929delinsCCGG (p.Ala309=)
c.962_965delinsCCGG (p.Ala321=)
c.903_906delinsCCGG
n.126_129delinsCCGG
c.57_60delinsCCGG
c.914_917delinsCCGG (p.Ala305=)
2g.85663420C>ACA347487250SFTPBc.928G>T (p.Gly310Trp)
c.964G>T (p.Gly322Trp)
c.905G>T
n.128G>T
c.59G>T
c.916G>T (p.Gly306Trp)
2g.85663420C=CA1266876906SFTPBc.928G= (p.Gly310=)
c.964G= (p.Gly322=)
c.905G=
n.128G=
c.59G=
c.916G= (p.Gly306=)
2g.85663420C>GCA347487251SFTPBc.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
2g.85663420C>TCA1743859SFTPBc.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
2g.85663421_85663423delCA534183675SFTPBc.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
2g.85663421G>ACA427080634SFTPBc.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
2g.85663421G>CCA427080633SFTPBc.927C>G (p.Ala309=)
c.963C>G (p.Ala321=)
c.904C>G
n.127C>G
c.58C>G
c.915C>G (p.Ala305=)
2g.85663421G=CA1266876907SFTPBc.927C= (p.Ala309=)
c.963C= (p.Ala321=)
c.904C=
n.127C=
c.58C=
c.915C= (p.Ala305=)
2g.85663421G>TCA427080632SFTPBc.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
2g.85663422G>ACA347487252SFTPBc.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
2g.85663422G>CCA347487254SFTPBc.926C>G (p.Ala309Gly)
c.962C>G (p.Ala321Gly)
c.903C>G
n.126C>G
c.57C>G
c.914C>G (p.Ala305Gly)
2g.85663422G>TCA347487253SFTPBc.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
2g.85663423C>ACA347487255SFTPBc.925G>T (p.Ala309Ser)
c.961G>T (p.Ala321Ser)
c.902G>T
n.125G>T
c.56G>T
c.913G>T (p.Ala305Ser)
2g.85663423C>GCA347487256SFTPBc.925G>C (p.Ala309Pro)
c.961G>C (p.Ala321Pro)
c.902G>C
n.125G>C
c.56G>C
c.913G>C (p.Ala305Pro)
2g.85663423C>TCA347487257SFTPBc.925G>A (p.Ala309Thr)
c.961G>A (p.Ala321Thr)
c.902G>A
n.125G>A
c.56G>A
c.913G>A (p.Ala305Thr)
2g.85663424C>ACA347487258SFTPBc.924G>T (p.Gln308His)
c.960G>T (p.Gln320His)
c.901G>T
n.124G>T
c.55G>T
c.912G>T (p.Gln304His)
2g.85663424C>GCA347487260SFTPBc.924G>C (p.Gln308His)
c.960G>C (p.Gln320His)
c.901G>C
n.124G>C
c.55G>C
c.912G>C (p.Gln304His)
2g.85663424C>TCA427080638SFTPBc.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
2g.85663425T>ACA347487263SFTPBc.923A>T (p.Gln308Leu)
c.959A>T (p.Gln320Leu)
c.900A>T
n.123A>T
c.54A>T
c.911A>T (p.Gln304Leu)
2g.85663425T>CCA347487264SFTPBc.923A>G (p.Gln308Arg)
c.959A>G (p.Gln320Arg)
c.900A>G
n.123A>G
c.54A>G
c.911A>G (p.Gln304Arg)
2g.85663425T>GCA347487266SFTPBc.923A>C (p.Gln308Pro)
c.959A>C (p.Gln320Pro)
c.900A>C
n.123A>C
c.54A>C
c.911A>C (p.Gln304Pro)
 dbSNP
2g.85663425T=CA1266876908SFTPBc.923A= (p.Gln308=)
c.959A= (p.Gln320=)
c.900A=
n.123A=
c.54A=
c.911A= (p.Gln304=)
2g.85663426_85663432delCA2577022200SFTPBc.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
2g.85663426G>ACA1743860SFTPBc.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
2g.85663426G>CCA347487270SFTPBc.922C>G (p.Gln308Glu)
c.958C>G (p.Gln320Glu)
c.899C>G
n.122C>G
c.53C>G
c.910C>G (p.Gln304Glu)
2g.85663426G=CA1266876909SFTPBc.922C= (p.Gln308=)
c.958C= (p.Gln320=)
c.899C=
n.122C=
c.53C=
c.910C= (p.Gln304=)
2g.85663426G>TCA347487271SFTPBc.922C>A (p.Gln308Lys)
c.958C>A (p.Gln320Lys)
c.899C>A
n.122C>A
c.53C>A
c.910C>A (p.Gln304Lys)
2g.85663426_85663446delinsGGGTGGTCACGGACATGCAGACA1266876910SFTPBc.902_922delinsTCTGCATGTCCGTGACCACCC (p.Leu301=)
c.938_958delinsTCTGCATGTCCGTGACCACCC (p.Leu313=)
c.879_899delinsTCTGCATGTCCGTGACCACCC
n.102_122delinsTCTGCATGTCCGTGACCACCC
c.33_53delinsTCTGCATGTCCGTGACCACCC
c.890_910delinsTCTGCATGTCCGTGACCACCC (p.Leu297=)
2g.85663427G>ACA427080643SFTPBc.921C>T (p.Thr307=)
c.957C>T (p.Thr319=)
c.898C>T
n.121C>T
c.52C>T
c.909C>T (p.Thr303=)
2g.85663427G>CCA427080642SFTPBc.921C>G (p.Thr307=)
c.957C>G (p.Thr319=)
c.898C>G
n.121C>G
c.52C>G
c.909C>G (p.Thr303=)
2g.85663427G=CA1266876911SFTPBc.921C= (p.Thr307=)
c.957C= (p.Thr319=)
c.898C=
n.121C=
c.52C=
c.909C= (p.Thr303=)
2g.85663427G>TCA427080641SFTPBc.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
2g.85663432_85663451delCA534183676SFTPBc.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
2g.85663428G>ACA347487276SFTPBc.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
2g.85663428G>CCA347487273SFTPBc.920C>G (p.Thr307Ser)
c.956C>G (p.Thr319Ser)
c.897C>G
n.120C>G
c.51C>G
c.908C>G (p.Thr303Ser)
2g.85663428G=CA1266876912SFTPBc.920C= (p.Thr307=)
c.956C= (p.Thr319=)
c.897C=
n.120C=
c.51C=
c.908C= (p.Thr303=)
2g.85663428G>TCA347487274SFTPBc.920C>A (p.Thr307Asn)
c.956C>A (p.Thr319Asn)
c.897C>A
n.120C>A
c.51C>A
c.908C>A (p.Thr303Asn)
2g.85663429T>ACA347487278SFTPBc.919A>T (p.Thr307Ser)
c.955A>T (p.Thr319Ser)
c.896A>T
n.119A>T
c.50A>T
c.907A>T (p.Thr303Ser)
2g.85663429T>CCA347487280SFTPBc.919A>G (p.Thr307Ala)
c.955A>G (p.Thr319Ala)
c.896A>G
n.119A>G
c.50A>G
c.907A>G (p.Thr303Ala)
2g.85663429T>GCA347487283SFTPBc.919A>C (p.Thr307Pro)
c.955A>C (p.Thr319Pro)
c.896A>C
n.119A>C
c.50A>C
c.907A>C (p.Thr303Pro)
2g.85663430G>ACA1743861SFTPBc.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
2g.85663430G>CCA427080649SFTPBc.918C>G (p.Thr306=)
c.954C>G (p.Thr318=)
c.895C>G
n.118C>G
c.49C>G
c.906C>G (p.Thr302=)
2g.85663430G=CA1266876913SFTPBc.918C= (p.Thr306=)
c.954C= (p.Thr318=)
c.895C=
n.118C=
c.49C=
c.906C= (p.Thr302=)
2g.85663430G>TCA427080648SFTPBc.918C>A (p.Thr306=)
c.954C>A (p.Thr318=)
c.895C>A
n.118C>A
c.49C>A
c.906C>A (p.Thr302=)
2g.85663431G>ACA347487284SFTPBc.917C>T (p.Thr306Ile)
c.953C>T (p.Thr318Ile)
c.894C>T
n.117C>T
c.48C>T
c.905C>T (p.Thr302Ile)
2g.85663431G>CCA347487286SFTPBc.917C>G (p.Thr306Ser)
c.953C>G (p.Thr318Ser)
c.894C>G
n.117C>G
c.48C>G
c.905C>G (p.Thr302Ser)
2g.85663431G>TCA347487287SFTPBc.917C>A (p.Thr306Asn)
c.953C>A (p.Thr318Asn)
c.894C>A
n.117C>A
c.48C>A
c.905C>A (p.Thr302Asn)
2g.85663432T>ACA347487289SFTPBc.916A>T (p.Thr306Ser)
c.952A>T (p.Thr318Ser)
c.893A>T
n.116A>T
c.47A>T
c.904A>T (p.Thr302Ser)
2g.85663432T>CCA347487291SFTPBc.916A>G (p.Thr306Ala)
c.952A>G (p.Thr318Ala)
c.893A>G
n.116A>G
c.47A>G
c.904A>G (p.Thr302Ala)
2g.85663432T>GCA347487293SFTPBc.916A>C (p.Thr306Pro)
c.952A>C (p.Thr318Pro)
c.893A>C
n.116A>C
c.47A>C
c.904A>C (p.Thr302Pro)
2g.85663433C>ACA427080656SFTPBc.915G>T (p.Val305=)
c.951G>T (p.Val317=)
c.892G>T
n.115G>T
c.46G>T
c.903G>T (p.Val301=)
2g.85663433C>GCA427080655SFTPBc.915G>C (p.Val305=)
c.951G>C (p.Val317=)
c.892G>C
n.115G>C
c.46G>C
c.903G>C (p.Val301=)
2g.85663433C>TCA427080654SFTPBc.915G>A (p.Val305=)
c.951G>A (p.Val317=)
c.892G>A
n.115G>A
c.46G>A
c.903G>A (p.Val301=)
2g.85663434A>CCA347487301SFTPBc.914T>G (p.Val305Gly)
c.950T>G (p.Val317Gly)
c.891T>G
n.114T>G
c.45T>G
c.902T>G (p.Val301Gly)
2g.85663434A>GCA347487298SFTPBc.914T>C (p.Val305Ala)
c.950T>C (p.Val317Ala)
c.891T>C
n.114T>C
c.45T>C
c.902T>C (p.Val301Ala)
2g.85663434A>TCA347487296SFTPBc.914T>A (p.Val305Glu)
c.950T>A (p.Val317Glu)
c.891T>A
n.114T>A
c.45T>A
c.902T>A (p.Val301Glu)
2g.85663435C>ACA347487303SFTPBc.913G>T (p.Val305Leu)
c.949G>T (p.Val317Leu)
c.890G>T
n.113G>T
c.44G>T
c.901G>T (p.Val301Leu)
2g.85663435C=CA1266876914SFTPBc.913G= (p.Val305=)
c.949G= (p.Val317=)
c.890G=
n.113G=
c.44G=
c.901G= (p.Val301=)
2g.85663435C>GCA347487305SFTPBc.913G>C (p.Val305Leu)
c.949G>C (p.Val317Leu)
c.890G>C
n.113G>C
c.44G>C
c.901G>C (p.Val301Leu)
2g.85663435C>TCA1743862SFTPBc.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
2g.85663435_85663436delCA2659874535SFTPBc.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
2g.85663436G>ACA1743863SFTPBc.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
2g.85663436G>CCA427080658SFTPBc.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
2g.85663436G=CA1266876915SFTPBc.912C= (p.Ser304=)
c.948C= (p.Ser316=)
c.889C=
n.112C=
c.43C=
c.900C= (p.Ser300=)
2g.85663436G>TCA427080660SFTPBc.912C>A (p.Ser304=)
c.948C>A (p.Ser316=)
c.889C>A
n.112C>A
c.43C>A
c.900C>A (p.Ser300=)
2g.85663437G>ACA347487309SFTPBc.911C>T (p.Ser304Phe)
c.947C>T (p.Ser316Phe)
c.888C>T
n.111C>T
c.42C>T
c.899C>T (p.Ser300Phe)
2g.85663437G>CCA347487311SFTPBc.911C>G (p.Ser304Cys)
c.947C>G (p.Ser316Cys)
c.888C>G
n.111C>G
c.42C>G
c.899C>G (p.Ser300Cys)
2g.85663437G>TCA347487313SFTPBc.911C>A (p.Ser304Tyr)
c.947C>A (p.Ser316Tyr)
c.888C>A
n.111C>A
c.42C>A
c.899C>A (p.Ser300Tyr)
2g.85663438A>CCA347487315SFTPBc.910T>G (p.Ser304Ala)
c.946T>G (p.Ser316Ala)
c.887T>G
n.110T>G
c.41T>G
c.898T>G (p.Ser300Ala)
2g.85663438A>GCA347487318SFTPBc.910T>C (p.Ser304Pro)
c.946T>C (p.Ser316Pro)
c.887T>C
n.110T>C
c.41T>C
c.898T>C (p.Ser300Pro)
2g.85663438A>TCA347487319SFTPBc.910T>A (p.Ser304Thr)
c.946T>A (p.Ser316Thr)
c.887T>A
n.110T>A
c.41T>A
c.898T>A (p.Ser300Thr)
2g.85663438_85663439insGTCTCA2659874536SFTPBc.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
2g.85663439C>ACA347487321SFTPBc.909G>T (p.Met303Ile)
c.945G>T (p.Met315Ile)
c.886G>T
n.109G>T
c.40G>T
c.897G>T (p.Met299Ile)
2g.85663439C>GCA347487322SFTPBc.909G>C (p.Met303Ile)
c.945G>C (p.Met315Ile)
c.886G>C
n.109G>C
c.40G>C
c.897G>C (p.Met299Ile)
2g.85663439C>TCA347487324SFTPBc.909G>A (p.Met303Ile)
c.945G>A (p.Met315Ile)
c.886G>A
n.109G>A
c.40G>A
c.897G>A (p.Met299Ile)
2g.85663440A=CA1266876916SFTPBc.908T= (p.Met303=)
c.944T= (p.Met315=)
c.885T=
n.108T=
c.39T=
c.896T= (p.Met299=)
2g.85663440A>CCA347487327SFTPBc.908T>G (p.Met303Arg)
c.944T>G (p.Met315Arg)
c.885T>G
n.108T>G
c.39T>G
c.896T>G (p.Met299Arg)
2g.85663440A>GCA347487332SFTPBc.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
2g.85663440A>TCA347487328SFTPBc.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
2g.85663440_85663441delCA2659874537SFTPBc.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
2g.85663441T>ACA347487334SFTPBc.907A>T (p.Met303Leu)
c.943A>T (p.Met315Leu)
c.884A>T
n.107A>T
c.38A>T
c.895A>T (p.Met299Leu)
2g.85663441T>CCA347487336SFTPBc.907A>G (p.Met303Val)
c.943A>G (p.Met315Val)
c.884A>G
n.107A>G
c.38A>G
c.895A>G (p.Met299Val)
2g.85663441T>GCA347487338SFTPBc.907A>C (p.Met303Leu)
c.943A>C (p.Met315Leu)
c.884A>C
n.107A>C
c.38A>C
c.895A>C (p.Met299Leu)
2g.85663442G>ACA427080668SFTPBc.906C>T (p.Cys302=)
c.942C>T (p.Cys314=)
c.883C>T
n.106C>T
c.37C>T
c.894C>T (p.Cys298=)
2g.85663442G>CCA347487340SFTPBc.906C>G (p.Cys302Trp)
c.942C>G (p.Cys314Trp)
c.883C>G
n.106C>G
c.37C>G
c.894C>G (p.Cys298Trp)
2g.85663442G>TCA347487342SFTPBc.906C>A (p.Cys302Ter)
c.942C>A (p.Cys314Ter)
c.883C>A
n.106C>A
c.37C>A
c.894C>A (p.Cys298Ter)
2g.85663443C>ACA347487344SFTPBc.905G>T (p.Cys302Phe)
c.941G>T (p.Cys314Phe)
c.882G>T
n.105G>T
c.36G>T
c.893G>T (p.Cys298Phe)
2g.85663443C>GCA347487347SFTPBc.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
2g.85663443C>TCA347487349SFTPBc.905G>A (p.Cys302Tyr)
c.941G>A (p.Cys314Tyr)
c.882G>A
n.105G>A
c.36G>A
c.893G>A (p.Cys298Tyr)
2g.85663444A>CCA347487352SFTPBc.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
2g.85663444A>GCA347487354SFTPBc.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
2g.85663444A>TCA347487356SFTPBc.904T>A (p.Cys302Ser)
c.940T>A (p.Cys314Ser)
c.881T>A
n.104T>A
c.35T>A
c.892T>A (p.Cys298Ser)
2g.85663445G>ACA427080673SFTPBc.903C>T (p.Leu301=)
c.939C>T (p.Leu313=)
c.880C>T
n.103C>T
c.34C>T
c.891C>T (p.Leu297=)
2g.85663445G>CCA427080675SFTPBc.903C>G (p.Leu301=)
c.939C>G (p.Leu313=)
c.880C>G
n.103C>G
c.34C>G
c.891C>G (p.Leu297=)
2g.85663445G>TCA427080676SFTPBc.903C>A (p.Leu301=)
c.939C>A (p.Leu313=)
c.880C>A
n.103C>A
c.34C>A
c.891C>A (p.Leu297=)
2g.85663446A>CCA347487361SFTPBc.902T>G (p.Leu301Arg)
c.938T>G (p.Leu313Arg)
c.879T>G
n.102T>G
c.33T>G
c.890T>G (p.Leu297Arg)
2g.85663446A>GCA347487364SFTPBc.902T>C (p.Leu301Pro)
c.938T>C (p.Leu313Pro)
c.879T>C
n.102T>C
c.33T>C
c.890T>C (p.Leu297Pro)
2g.85663446A>TCA347487360SFTPBc.902T>A (p.Leu301His)
c.938T>A (p.Leu313His)
c.879T>A
n.102T>A
c.33T>A
c.890T>A (p.Leu297His)
2g.85663447G>ACA347487369SFTPBc.901C>T (p.Leu301Phe)
c.937C>T (p.Leu313Phe)
c.878C>T
n.101C>T
c.32C>T
c.889C>T (p.Leu297Phe)
2g.85663447G>CCA347487366SFTPBc.901C>G (p.Leu301Val)
c.937C>G (p.Leu313Val)
c.878C>G
n.101C>G
c.32C>G
c.889C>G (p.Leu297Val)
2g.85663447G>TCA347487367SFTPBc.901C>A (p.Leu301Ile)
c.937C>A (p.Leu313Ile)
c.878C>A
n.101C>A
c.32C>A
c.889C>A (p.Leu297Ile)
2g.85663448G>ACA427080678SFTPBc.900C>T (p.His300=)
c.936C>T (p.His312=)
c.877C>T
n.100C>T
c.31C>T
c.888C>T (p.His296=)
2g.85663448G>CCA51751244SFTPBc.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
2g.85663448G=CA1266876917SFTPBc.900C= (p.His300=)
c.936C= (p.His312=)
c.877C=
n.100C=
c.31C=
c.888C= (p.His296=)
2g.85663448G>TCA347487373SFTPBc.900C>A (p.His300Gln)
c.936C>A (p.His312Gln)
c.877C>A
n.100C>A
c.31C>A
c.888C>A (p.His296Gln)
2g.85663449T>ACA347487375SFTPBc.899A>T (p.His300Leu)
c.935A>T (p.His312Leu)
c.876A>T
n.99A>T
c.30A>T
c.887A>T (p.His296Leu)
2g.85663449T>CCA347487377SFTPBc.899A>G (p.His300Arg)
c.935A>G (p.His312Arg)
c.876A>G
n.99A>G
c.30A>G
c.887A>G (p.His296Arg)
 dbSNP
2g.85663449T>GCA347487379SFTPBc.899A>C (p.His300Pro)
c.935A>C (p.His312Pro)
c.876A>C
n.99A>C
c.30A>C
c.887A>C (p.His296Pro)
2g.85663450G>ACA347487381SFTPBc.898C>T (p.His300Tyr)
c.934C>T (p.His312Tyr)
c.875C>T
n.98C>T
c.29C>T
c.886C>T (p.His296Tyr)
2g.85663450G>CCA347487384SFTPBc.898C>G (p.His300Asp)
c.934C>G (p.His312Asp)
c.875C>G
n.98C>G
c.29C>G
c.886C>G (p.His296Asp)
2g.85663450G>TCA347487386SFTPBc.898C>A (p.His300Asn)
c.934C>A (p.His312Asn)
c.875C>A
n.98C>A
c.29C>A
c.886C>A (p.His296Asn)
2g.85663451G>ACA1743864SFTPBc.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
2g.85663451G>CCA347487389SFTPBc.897C>G (p.Cys299Trp)
c.933C>G (p.Cys311Trp)
c.874C>G
n.97C>G
c.28C>G
c.885C>G (p.Cys295Trp)
2g.85663451G=CA1266876918SFTPBc.897C= (p.Cys299=)
c.933C= (p.Cys311=)
c.874C=
n.97C=
c.28C=
c.885C= (p.Cys295=)
2g.85663451G>TCA347487392SFTPBc.897C>A (p.Cys299Ter)
c.933C>A (p.Cys311Ter)
c.874C>A
n.97C>A
c.28C>A
c.885C>A (p.Cys295Ter)
2g.85663452C>ACA347487394SFTPBc.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
2g.85663452C>GCA347487399SFTPBc.896G>C (p.Cys299Ser)
c.932G>C (p.Cys311Ser)
c.873G>C
n.96G>C
c.27G>C
c.884G>C (p.Cys295Ser)
2g.85663452C>TCA347487397SFTPBc.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
2g.85663453A=CA1266876919SFTPBc.895T= (p.Cys299=)
c.931T= (p.Cys311=)
c.872T=
n.95T=
c.26T=
c.883T= (p.Cys295=)
2g.85663453A>CCA347487401SFTPBc.895T>G (p.Cys299Gly)
c.931T>G (p.Cys311Gly)
c.872T>G
n.95T>G
c.26T>G
c.883T>G (p.Cys295Gly)
 dbSNP
2g.85663453A>GCA347487403SFTPBc.895T>C (p.Cys299Arg)
c.931T>C (p.Cys311Arg)
c.872T>C
n.95T>C
c.26T>C
c.883T>C (p.Cys295Arg)
2g.85663453A>TCA347487405SFTPBc.895T>A (p.Cys299Ser)
c.931T>A (p.Cys311Ser)
c.872T>A
n.95T>A
c.26T>A
c.883T>A (p.Cys295Ser)
2g.85663454C>ACA347487407SFTPBc.894G>T (p.Glu298Asp)
c.930G>T (p.Glu310Asp)
c.871G>T
n.94G>T
c.25G>T
c.882G>T (p.Glu294Asp)
2g.85663454C=CA1266876920SFTPBc.894G= (p.Glu298=)
c.930G= (p.Glu310=)
c.871G=
n.94G=
c.25G=
c.882G= (p.Glu294=)
2g.85663454C>GCA347487415SFTPBc.894G>C (p.Glu298Asp)
c.930G>C (p.Glu310Asp)
c.871G>C
n.94G>C
c.25G>C
c.882G>C (p.Glu294Asp)
2g.85663454C>TCA427080687SFTPBc.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

Number of alleles fetched