Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.85663460G>ACA1743866SFTPBc.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
2g.85663460G>CCA347487444SFTPBc.888C>G (p.Asp296Glu)
c.924C>G (p.Asp308Glu)
c.865C>G
n.88C>G
c.19C>G
c.876C>G (p.Asp292Glu)
2g.85663460G=CA1266876924SFTPBc.888C= (p.Asp296=)
c.924C= (p.Asp308=)
c.865C=
n.88C=
c.19C=
c.876C= (p.Asp292=)
2g.85663460G>TCA1743867SFTPBc.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
2g.85663461T>ACA347487446SFTPBc.887A>T (p.Asp296Val)
c.923A>T (p.Asp308Val)
c.864A>T
n.87A>T
c.18A>T
c.875A>T (p.Asp292Val)
2g.85663461T>CCA347487449SFTPBc.887A>G (p.Asp296Gly)
c.923A>G (p.Asp308Gly)
c.864A>G
n.87A>G
c.18A>G
c.875A>G (p.Asp292Gly)
2g.85663461T>GCA347487450SFTPBc.887A>C (p.Asp296Ala)
c.923A>C (p.Asp308Ala)
c.864A>C
n.87A>C
c.18A>C
c.875A>C (p.Asp292Ala)
2g.85663462C>ACA347487453SFTPBc.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
2g.85663462C=CA1266876925SFTPBc.886G= (p.Asp296=)
c.922G= (p.Asp308=)
c.863G=
n.86G=
c.17G=
c.874G= (p.Asp292=)
2g.85663462C>GCA347487455SFTPBc.886G>C (p.Asp296His)
c.922G>C (p.Asp308His)
c.863G>C
n.86G>C
c.17G>C
c.874G>C (p.Asp292His)
2g.85663462C>TCA347487459SFTPBc.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
2g.85663463T>ACA427080702SFTPBc.885A>T (p.Arg295=)
c.921A>T (p.Arg307=)
c.862A>T
n.85A>T
c.16A>T
c.873A>T (p.Arg291=)
2g.85663463T>CCA427080704SFTPBc.885A>G (p.Arg295=)
c.921A>G (p.Arg307=)
c.862A>G
n.85A>G
c.16A>G
c.873A>G (p.Arg291=)
2g.85663463T>GCA427080707SFTPBc.885A>C (p.Arg295=)
c.921A>C (p.Arg307=)
c.862A>C
n.85A>C
c.16A>C
c.873A>C (p.Arg291=)
2g.85663464C>ACA347487463SFTPBc.884G>T (p.Arg295Leu)
c.920G>T (p.Arg307Leu)
c.861G>T
n.84G>T
c.15G>T
c.872G>T (p.Arg291Leu)
2g.85663464C=CA1266876926SFTPBc.884G= (p.Arg295=)
c.920G= (p.Arg307=)
c.861G=
n.84G=
c.15G=
c.872G= (p.Arg291=)
2g.85663464C>GCA347487466SFTPBc.884G>C (p.Arg295Pro)
c.920G>C (p.Arg307Pro)
c.861G>C
n.84G>C
c.15G>C
c.872G>C (p.Arg291Pro)
2g.85663464C>TCA1743868SFTPBc.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
2g.85663465G>ACA347487472SFTPBc.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
2g.85663465G>CCA347487479SFTPBc.883C>G (p.Arg295Gly)
c.919C>G (p.Arg307Gly)
c.860C>G
n.83C>G
c.14C>G
c.871C>G (p.Arg291Gly)
2g.85663465G=CA1266876927SFTPBc.883C= (p.Arg295=)
c.919C= (p.Arg307=)
c.860C=
n.83C=
c.14C=
c.871C= (p.Arg291=)
2g.85663465G>TCA427080712SFTPBc.883C>A (p.Arg295=)
c.919C>A (p.Arg307=)
c.860C>A
n.83C>A
c.14C>A
c.871C>A (p.Arg291=)
2g.85663466C>ACA427080713SFTPBc.882G>T (p.Pro294=)
c.918G>T (p.Pro306=)
c.859G>T
n.82G>T
c.13G>T
c.870G>T (p.Pro290=)
2g.85663466C=CA1266876928SFTPBc.882G= (p.Pro294=)
c.918G= (p.Pro306=)
c.859G=
n.82G=
c.13G=
c.870G= (p.Pro290=)
2g.85663466C>GCA427080714SFTPBc.882G>C (p.Pro294=)
c.918G>C (p.Pro306=)
c.859G>C
n.82G>C
c.13G>C
c.870G>C (p.Pro290=)
2g.85663466C>TCA1743870SFTPBc.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
2g.85663470_85663487dupCA1743869SFTPBc.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
2g.85663467G>ACA347487484SFTPBc.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
2g.85663467G>CCA347487489SFTPBc.881C>G (p.Pro294Arg)
c.917C>G (p.Pro306Arg)
c.858C>G
n.81C>G
c.12C>G
c.869C>G (p.Pro290Arg)
2g.85663467G=CA1266876929SFTPBc.881C= (p.Pro294=)
c.917C= (p.Pro306=)
c.858C=
n.81C=
c.12C=
c.869C= (p.Pro290=)
2g.85663467G>TCA347487490SFTPBc.881C>A (p.Pro294Gln)
c.917C>A (p.Pro306Gln)
c.858C>A
n.81C>A
c.12C>A
c.869C>A (p.Pro290Gln)
2g.85663468G>ACA347487491SFTPBc.880C>T (p.Pro294Ser)
c.916C>T (p.Pro306Ser)
c.857C>T
n.80C>T
c.11C>T
c.868C>T (p.Pro290Ser)
2g.85663468G>CCA347487495SFTPBc.880C>G (p.Pro294Ala)
c.916C>G (p.Pro306Ala)
c.857C>G
n.80C>G
c.11C>G
c.868C>G (p.Pro290Ala)
 dbSNP
2g.85663468G=CA1266876930SFTPBc.880C= (p.Pro294=)
c.916C= (p.Pro306=)
c.857C=
n.80C=
c.11C=
c.868C= (p.Pro290=)
2g.85663468G>TCA347487497SFTPBc.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
2g.85663469C>ACA427080720SFTPBc.879G>T (p.Leu293=)
c.915G>T (p.Leu305=)
c.856G>T
n.79G>T
c.10G>T
c.867G>T (p.Leu289=)
2g.85663469C>GCA427080721SFTPBc.879G>C (p.Leu293=)
c.915G>C (p.Leu305=)
c.856G>C
n.79G>C
c.10G>C
c.867G>C (p.Leu289=)
2g.85663469C>TCA427080722SFTPBc.879G>A (p.Leu293=)
c.915G>A (p.Leu305=)
c.856G>A
n.79G>A
c.10G>A
c.867G>A (p.Leu289=)
2g.85663470A=CA1266876931SFTPBc.878T= (p.Leu293=)
c.914T= (p.Leu305=)
c.855T=
n.78T=
c.9T=
c.866T= (p.Leu289=)
2g.85663470A>CCA347487501SFTPBc.878T>G (p.Leu293Arg)
c.914T>G (p.Leu305Arg)
c.855T>G
n.78T>G
c.9T>G
c.866T>G (p.Leu289Arg)
2g.85663470A>GCA51751255SFTPBc.878T>C (p.Leu293Pro)
c.914T>C (p.Leu305Pro)
c.855T>C
n.78T>C
c.9T>C
c.866T>C (p.Leu289Pro)
 dbSNP
2g.85663470A>TCA347487508SFTPBc.878T>A (p.Leu293Gln)
c.914T>A (p.Leu305Gln)
c.855T>A
n.78T>A
c.9T>A
c.866T>A (p.Leu289Gln)
2g.85663471G>ACA427080724SFTPBc.877C>T (p.Leu293=)
c.913C>T (p.Leu305=)
c.854C>T
n.77C>T
c.8C>T
c.865C>T (p.Leu289=)
2g.85663471G>CCA347487513SFTPBc.877C>G (p.Leu293Val)
c.913C>G (p.Leu305Val)
c.854C>G
n.77C>G
c.8C>G
c.865C>G (p.Leu289Val)
2g.85663471G>TCA347487515SFTPBc.877C>A (p.Leu293Met)
c.913C>A (p.Leu305Met)
c.854C>A
n.77C>A
c.8C>A
c.865C>A (p.Leu289Met)
2g.85663472C>ACA347487525SFTPBc.876G>T (p.Trp292Cys)
c.912G>T (p.Trp304Cys)
c.853G>T
n.76G>T
c.7G>T
c.864G>T (p.Trp288Cys)
2g.85663472C=CA1266876932SFTPBc.876G= (p.Trp292=)
c.912G= (p.Trp304=)
c.853G=
n.76G=
c.7G=
c.864G= (p.Trp288=)
2g.85663472C>GCA347487528SFTPBc.876G>C (p.Trp292Cys)
c.912G>C (p.Trp304Cys)
c.853G>C
n.76G>C
c.7G>C
c.864G>C (p.Trp288Cys)
2g.85663472C>TCA347487519SFTPBc.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
2g.85663473C>ACA347487530SFTPBc.875G>T (p.Trp292Leu)
c.911G>T (p.Trp304Leu)
c.852G>T
n.75G>T
c.6G>T
c.863G>T (p.Trp288Leu)
2g.85663473C=CA1266876933SFTPBc.875G= (p.Trp292=)
c.911G= (p.Trp304=)
c.852G=
n.75G=
c.6G=
c.863G= (p.Trp288=)
2g.85663473C>GCA1743871SFTPBc.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
2g.85663473C>TCA347487538SFTPBc.875G>A (p.Trp292Ter)
c.911G>A (p.Trp304Ter)
c.852G>A
n.75G>A
c.6G>A
c.863G>A (p.Trp288Ter)
2g.85663474A>CCA347487541SFTPBc.874T>G (p.Trp292Gly)
c.910T>G (p.Trp304Gly)
c.851T>G
n.74T>G
c.5T>G
c.862T>G (p.Trp288Gly)
2g.85663474A>GCA347487543SFTPBc.874T>C (p.Trp292Arg)
c.910T>C (p.Trp304Arg)
c.851T>C
n.74T>C
c.5T>C
c.862T>C (p.Trp288Arg)
2g.85663474A>TCA347487546SFTPBc.874T>A (p.Trp292Arg)
c.910T>A (p.Trp304Arg)
c.851T>A
n.74T>A
c.5T>A
c.862T>A (p.Trp288Arg)
2g.85663475T>ACA347487548SFTPBc.873A>T (p.Glu291Asp)
c.909A>T (p.Glu303Asp)
c.850A>T
n.73A>T
c.4A>T
c.861A>T (p.Glu287Asp)
2g.85663475T>CCA427080729SFTPBc.873A>G (p.Glu291=)
c.909A>G (p.Glu303=)
c.850A>G
n.73A>G
c.4A>G
c.861A>G (p.Glu287=)
 dbSNP
2g.85663475T>GCA347487547SFTPBc.873A>C (p.Glu291Asp)
c.909A>C (p.Glu303Asp)
c.850A>C
n.73A>C
c.4A>C
c.861A>C (p.Glu287Asp)
2g.85663475T=CA1266876934SFTPBc.873A= (p.Glu291=)
c.909A= (p.Glu303=)
c.850A=
n.73A=
c.4A=
c.861A= (p.Glu287=)
2g.85663476T>ACA347487549SFTPBc.872A>T (p.Glu291Val)
c.908A>T (p.Glu303Val)
c.849A>T
n.72A>T
c.3A>T
c.860A>T (p.Glu287Val)
2g.85663476T>CCA347487552SFTPBc.872A>G (p.Glu291Gly)
c.908A>G (p.Glu303Gly)
c.849A>G
n.72A>G
c.3A>G
c.860A>G (p.Glu287Gly)
2g.85663476T>GCA347487555SFTPBc.872A>C (p.Glu291Ala)
c.908A>C (p.Glu303Ala)
c.849A>C
n.72A>C
c.3A>C
c.860A>C (p.Glu287Ala)
2g.85663476_85663479delinsTCTCCA1266876935SFTPBc.869_872delinsGAGA (p.Gly290=)
c.905_908delinsGAGA (p.Gly302=)
c.846_849delinsGAGA
n.69_72delinsGAGA
c.857_860delinsGAGA (p.Arg286=)
2g.85663477C>ACA347487558SFTPBc.871G>T (p.Glu291Ter)
c.907G>T (p.Glu303Ter)
c.848G>T
n.71G>T
c.2G>T
c.859G>T (p.Glu287Ter)
2g.85663477C=CA1266876936SFTPBc.871G= (p.Glu291=)
c.907G= (p.Glu303=)
c.848G=
n.71G=
c.2G=
c.859G= (p.Glu287=)
2g.85663477C>GCA347487560SFTPBc.871G>C (p.Glu291Gln)
c.907G>C (p.Glu303Gln)
c.848G>C
n.71G>C
c.2G>C
c.859G>C (p.Glu287Gln)
2g.85663477C>TCA51751264SFTPBc.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
2g.85663479_85663481delCA51751263SFTPBc.869_871del (p.Gly290del)
c.905_907del (p.Gly302del)
c.846_848del
n.69_71del
c.857_859del
 dbSNP gnomAD v3 gnomAD v4
2g.85663478T>ACA427080730SFTPBc.870A>T (p.Gly290=)
c.906A>T (p.Gly302=)
c.847A>T
n.70A>T
c.1A>T
c.858A>T (p.Arg286Ser)
2g.85663478T>CCA427080731SFTPBc.870A>G (p.Gly290=)
c.906A>G (p.Gly302=)
c.847A>G
n.70A>G
c.1A>G
c.858A>G (p.Arg286=)
2g.85663478T>GCA427080732SFTPBc.870A>C (p.Gly290=)
c.906A>C (p.Gly302=)
c.847A>C
n.70A>C
c.1A>C
c.858A>C (p.Arg286Ser)
2g.85663479C>ACA51751266SFTPBc.869G>T (p.Gly290Val)
c.905G>T (p.Gly302Val)
c.846G>T
n.69G>T
c.857G>T (p.Arg286Ile)
 dbSNP gnomAD v4
2g.85663479C=CA1266876937SFTPBc.869G= (p.Gly290=)
c.905G= (p.Gly302=)
c.846G=
n.69G=
c.857G= (p.Arg286=)
2g.85663479C>GCA1743873SFTPBc.869G>C (p.Gly290Ala)
c.905G>C (p.Gly302Ala)
c.846G>C
n.69G>C
c.857G>C (p.Arg286Thr)
 dbSNP ExAC gnomAD v2
2g.85663479C>TCA1743872SFTPBc.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
2g.85663480C>ACA347487570SFTPBc.868G>T (p.Gly290Ter)
c.904G>T (p.Gly302Ter)
c.846-1G>T
n.68G>T
c.857-1G>T (n.857-1G>T)
2g.85663480C=CA1266876938SFTPBc.868G= (p.Gly290=)
c.904G= (p.Gly302=)
c.846-1G=
n.68G=
c.857-1G= (n.857-1G=)
2g.85663480C>GCA347487574SFTPBc.868G>C (p.Gly290Arg)
c.904G>C (p.Gly302Arg)
c.846-1G>C
n.68G>C
c.857-1G>C (n.857-1G>C)
2g.85663480C>TCA347487576SFTPBc.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
2g.85663481T>ACA427080735SFTPBc.867A>T (p.Thr289=)
c.903A>T (p.Thr301=)
c.846-2A>T
n.67A>T
c.857-2A>T (n.857-2A>T)
2g.85663481T>CCA427080734SFTPBc.867A>G (p.Thr289=)
c.903A>G (p.Thr301=)
c.846-2A>G
n.67A>G
c.857-2A>G (n.857-2A>G)
2g.85663481T>GCA427080733SFTPBc.867A>C (p.Thr289=)
c.903A>C (p.Thr301=)
c.846-2A>C
n.67A>C
c.857-2A>C (n.857-2A>C)
2g.85663482G>ACA347487581SFTPBc.866C>T (p.Thr289Ile)
c.902C>T (p.Thr301Ile)
c.846-3C>T
n.66C>T
c.857-3C>T (n.857-3C>T)
 gnomAD v4
2g.85663482G>CCA347487585SFTPBc.866C>G (p.Thr289Arg)
c.902C>G (p.Thr301Arg)
c.846-3C>G
n.66C>G
c.857-3C>G (n.857-3C>G)
2g.85663482G=CA1266876939SFTPBc.866C= (p.Thr289=)
c.902C= (p.Thr301=)
c.846-3C=
n.66C=
c.857-3C= (n.857-3C=)
2g.85663482G>TCA347487587SFTPBc.866C>A (p.Thr289Lys)
c.902C>A (p.Thr301Lys)
c.846-3C>A
n.66C>A
c.857-3C>A (n.857-3C>A)
 dbSNP gnomAD v2
2g.85663483T>ACA347487590SFTPBc.865A>T (p.Thr289Ser)
c.901A>T (p.Thr301Ser)
c.846-4A>T
n.65A>T
c.857-4A>T (n.857-4A>T)
 dbSNP gnomAD v4
2g.85663483T>CCA347487591SFTPBc.865A>G (p.Thr289Ala)
c.901A>G (p.Thr301Ala)
c.846-4A>G
n.65A>G
c.857-4A>G (n.857-4A>G)
2g.85663483T>GCA347487594SFTPBc.865A>C (p.Thr289Pro)
c.901A>C (p.Thr301Pro)
c.846-4A>C
n.65A>C
c.857-4A>C (n.857-4A>C)
2g.85663483T=CA1266876940SFTPBc.865A= (p.Thr289=)
c.901A= (p.Thr301=)
c.846-4A=
n.65A=
c.857-4A= (n.857-4A=)
2g.85663484C>ACA427080736SFTPBc.864G>T (p.Pro288=)
c.900G>T (p.Pro300=)
c.846-5G>T
n.64G>T
c.857-5G>T (n.857-5G>T)
 gnomAD v4
2g.85663484C=CA1266876941SFTPBc.864G= (p.Pro288=)
c.900G= (p.Pro300=)
c.846-5G=
n.64G=
c.857-5G= (n.857-5G=)
2g.85663484C>GCA427080737SFTPBc.864G>C (p.Pro288=)
c.900G>C (p.Pro300=)
c.846-5G>C
n.64G>C
c.857-5G>C (n.857-5G>C)
2g.85663484C>TCA1743874SFTPBc.864G>A (p.Pro288=)
c.900G>A (p.Pro300=)
c.846-5G>A
n.64G>A
c.857-5G>A (n.857-5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663485G>ACA1743875SFTPBc.863C>T (p.Pro288Leu)
c.899C>T (p.Pro300Leu)
c.846-6C>T
n.63C>T
c.857-6C>T (n.857-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663485G>CCA347487600SFTPBc.863C>G (p.Pro288Arg)
c.899C>G (p.Pro300Arg)
c.846-6C>G
n.63C>G
c.857-6C>G (n.857-6C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.85663485G=CA1266876942SFTPBc.863C= (p.Pro288=)
c.899C= (p.Pro300=)
c.846-6C=
n.63C=
c.857-6C= (n.857-6C=)
2g.85663485G>TCA51751296SFTPBc.863C>A (p.Pro288Gln)
c.899C>A (p.Pro300Gln)
c.846-6C>A
n.63C>A
c.857-6C>A (n.857-6C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.85663486G>ACA347487605SFTPBc.862C>T (p.Pro288Ser)
c.898C>T (p.Pro300Ser)
c.846-7C>T
n.62C>T
c.857-7C>T (n.857-7C>T)
2g.85663486G>CCA347487609SFTPBc.862C>G (p.Pro288Ala)
c.898C>G (p.Pro300Ala)
c.846-7C>G
n.62C>G
c.857-7C>G (n.857-7C>G)
 dbSNP
2g.85663486G=CA1266876943SFTPBc.862C= (p.Pro288=)
c.898C= (p.Pro300=)
c.846-7C=
n.62C=
c.857-7C= (n.857-7C=)
2g.85663486G>TCA347487607SFTPBc.862C>A (p.Pro288Thr)
c.898C>A (p.Pro300Thr)
c.846-7C>A
n.62C>A
c.857-7C>A (n.857-7C>A)
2g.85663487C>ACA427080739SFTPBc.861G>T (p.Ser287=)
c.897G>T (p.Ser299=)
c.846-8G>T
n.61G>T
c.857-8G>T (n.857-8G>T)
2g.85663487C=CA1266876944SFTPBc.861G= (p.Ser287=)
c.897G= (p.Ser299=)
c.846-8G=
n.61G=
c.857-8G= (n.857-8G=)
2g.85663487C>GCA427080740SFTPBc.861G>C (p.Ser287=)
c.897G>C (p.Ser299=)
c.846-8G>C
n.61G>C
c.857-8G>C (n.857-8G>C)
2g.85663487C>TCA1743876SFTPBc.861G>A (p.Ser287=)
c.897G>A (p.Ser299=)
c.846-8G>A
n.61G>A
c.857-8G>A (n.857-8G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.85663488G>ACA1743877SFTPBc.860C>T (p.Ser287Leu)
c.896C>T (p.Ser299Leu)
c.846-9C>T
n.60C>T
c.857-9C>T (n.857-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663488G>CCA347487616SFTPBc.860C>G (p.Ser287Trp)
c.896C>G (p.Ser299Trp)
c.846-9C>G
n.60C>G
c.857-9C>G (n.857-9C>G)
2g.85663488G=CA1266876945SFTPBc.860C= (p.Ser287=)
c.896C= (p.Ser299=)
c.846-9C=
n.60C=
c.857-9C= (n.857-9C=)
2g.85663488G>TCA347487620SFTPBc.860C>A (p.Ser287Ter)
c.896C>A (p.Ser299Ter)
c.846-9C>A
n.60C>A
c.857-9C>A (n.857-9C>A)
2g.85663489A>CCA347487622SFTPBc.859T>G (p.Ser287Ala)
c.895T>G (p.Ser299Ala)
c.846-10T>G
n.59T>G
c.857-10T>G (n.857-10T>G)
 gnomAD v4
2g.85663489A>GCA347487625SFTPBc.859T>C (p.Ser287Pro)
c.895T>C (p.Ser299Pro)
c.846-10T>C
n.59T>C
c.857-10T>C (n.857-10T>C)
2g.85663489A>TCA347487628SFTPBc.859T>A (p.Ser287Thr)
c.895T>A (p.Ser299Thr)
c.846-10T>A
n.59T>A
c.857-10T>A (n.857-10T>A)
2g.85663490C>ACA347487630SFTPBc.858G>T (p.Arg286Ser)
c.894G>T (p.Arg298Ser)
c.846-11G>T
n.58G>T
c.857-11G>T (n.857-11G>T)
2g.85663490C=CA1266876946SFTPBc.858G= (p.Arg286=)
c.894G= (p.Arg298=)
c.846-11G=
n.58G=
c.857-11G= (n.857-11G=)
2g.85663490C>GCA347487632SFTPBc.858G>C (p.Arg286Ser)
c.894G>C (p.Arg298Ser)
c.846-11G>C
n.58G>C
c.857-11G>C (n.857-11G>C)
2g.85663490C>TCA427080744SFTPBc.858G>A (p.Arg286=)
c.894G>A (p.Arg298=)
c.846-11G>A
n.58G>A
c.857-11G>A (n.857-11G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.85663491C>ACA347487638SFTPBc.857G>T (p.Arg286Met)
c.893G>T (p.Arg298Met)
c.846-12G>T
n.57G>T
c.857-12G>T (n.857-12G>T)
2g.85663491C>GCA347487641SFTPBc.857G>C (p.Arg286Thr)
c.893G>C (p.Arg298Thr)
c.846-12G>C
n.57G>C
c.857-12G>C (n.857-12G>C)
2g.85663491C>TCA347487646SFTPBc.857G>A (p.Arg286Lys)
c.893G>A (p.Arg298Lys)
c.846-12G>A
n.57G>A
c.857-12G>A (n.857-12G>A)
2g.85663492C>ACA347487662SFTPBc.857-1G>T (n.857-1G>T)
c.893-1G>T (n.893-1G>T)
c.846-13G>T
n.56G>T
c.857-13G>T (n.857-13G>T)
2g.85663492C>GCA347487651SFTPBc.857-1G>C (n.857-1G>C)
c.893-1G>C (n.893-1G>C)
c.846-13G>C
n.56G>C
c.857-13G>C (n.857-13G>C)
 gnomAD v4
2g.85663492C>TCA347487657SFTPBc.857-1G>A (n.857-1G>A)
c.893-1G>A (n.893-1G>A)
c.846-13G>A
n.56G>A
c.857-13G>A (n.857-13G>A)
2g.85663493T>ACA347487666SFTPBc.857-2A>T (n.857-2A>T)
c.893-2A>T (n.893-2A>T)
c.846-14A>T
n.55A>T
c.857-14A>T (n.857-14A>T)
2g.85663493T>CCA347487669SFTPBc.857-2A>G (n.857-2A>G)
c.893-2A>G (n.893-2A>G)
c.846-14A>G
n.55A>G
c.857-14A>G (n.857-14A>G)
2g.85663493T>GCA347487670SFTPBc.857-2A>C (n.857-2A>C)
c.893-2A>C (n.893-2A>C)
c.846-14A>C
n.55A>C
c.857-14A>C (n.857-14A>C)
2g.85663494G>TCA2659874538SFTPBc.857-3C>A (n.857-3C>A)
c.893-3C>A (n.893-3C>A)
c.846-15C>A
n.54C>A
c.857-15C>A (n.857-15C>A)
 gnomAD v4
2g.85663495G>ACA2659874539SFTPBc.857-4C>T (n.857-4C>T)
c.893-4C>T (n.893-4C>T)
c.846-16C>T
n.53C>T
c.857-16C>T (n.857-16C>T)
 gnomAD v4
2g.85663501T>CCA1743878SFTPBc.857-10A>G (n.857-10A>G)
c.893-10A>G (n.893-10A>G)
c.846-22A>G
n.47A>G
c.857-22A>G (n.857-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663501T=CA1266876947SFTPBc.857-10A= (n.857-10A=)
c.893-10A= (n.893-10A=)
c.846-22A=
n.47A=
c.857-22A= (n.857-22A=)
2g.85663502G>CCA893989066SFTPBc.857-11C>G (n.857-11C>G)
c.893-11C>G (n.893-11C>G)
c.846-23C>G
n.46C>G
c.857-23C>G (n.857-23C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.85663502G=CA1266876948SFTPBc.857-11C= (n.857-11C=)
c.893-11C= (n.893-11C=)
c.846-23C=
n.46C=
c.857-23C= (n.857-23C=)
2g.85663502G>TCA2527636299SFTPBc.857-11C>A (n.857-11C>A)
c.893-11C>A (n.893-11C>A)
c.846-23C>A
n.46C>A
c.857-23C>A (n.857-23C>A)
2g.85663504G>ACA1743879SFTPBc.857-13C>T (n.857-13C>T)
c.893-13C>T (n.893-13C>T)
c.846-25C>T
n.44C>T
c.857-25C>T (n.857-25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.85663504G=CA1266876949SFTPBc.857-13C= (n.857-13C=)
c.893-13C= (n.893-13C=)
c.846-25C=
n.44C=
c.857-25C= (n.857-25C=)
2g.85663505C=CA1266876950SFTPBc.857-14G= (n.857-14G=)
c.893-14G= (n.893-14G=)
c.846-26G=
n.43G=
c.857-26G= (n.857-26G=)
2g.85663505C>TCA534183677SFTPBc.857-14G>A (n.857-14G>A)
c.893-14G>A (n.893-14G>A)
c.846-26G>A
n.43G>A
c.857-26G>A (n.857-26G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663506A=CA1266876951SFTPBc.857-15T= (n.857-15T=)
c.893-15T= (n.893-15T=)
c.846-27T=
n.42T=
c.857-27T= (n.857-27T=)
2g.85663506A>GCA893989067SFTPBc.857-15T>C (n.857-15T>C)
c.893-15T>C (n.893-15T>C)
c.846-27T>C
n.42T>C
c.857-27T>C (n.857-27T>C)
 dbSNP gnomAD v4
2g.85663508_85663509delinsTACA1266876952SFTPBc.857-18_857-17delinsTA (n.857-18_857-17delinsTA)
c.893-18_893-17delinsTA (n.893-18_893-17delinsTA)
c.846-30_846-29delinsTA
n.39_40delinsTA
c.857-30_857-29delinsTA (n.857-30_857-29delinsTA)
2g.85663509delCA1743880SFTPBc.857-18del (n.857-18del)
c.893-18del (n.893-18del)
c.846-30del
n.39del
c.857-30del (n.857-30del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663509A=CA1266876954SFTPBc.857-18T= (n.857-18T=)
c.893-18T= (n.893-18T=)
c.846-30T=
n.39T=
c.857-30T= (n.857-30T=)
2g.85663509A>GCA1743881SFTPBc.857-18T>C (n.857-18T>C)
c.893-18T>C (n.893-18T>C)
c.846-30T>C
n.39T>C
c.857-30T>C (n.857-30T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.85663509_85663510delinsAGCA1266876953SFTPBc.857-19_857-18delinsCT (n.857-19_857-18delinsCT)
c.893-19_893-18delinsCT (n.893-19_893-18delinsCT)
c.846-31_846-30delinsCT
n.38_39delinsCT
c.857-31_857-30delinsCT (n.857-31_857-30delinsCT)
2g.85663510G>CCA534183678SFTPBc.857-19C>G (n.857-19C>G)
c.893-19C>G (n.893-19C>G)
c.846-31C>G
n.38C>G
c.857-31C>G (n.857-31C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663510G=CA1266876955SFTPBc.857-19C= (n.857-19C=)
c.893-19C= (n.893-19C=)
c.846-31C=
n.38C=
c.857-31C= (n.857-31C=)
2g.85663510G>TCA1743882SFTPBc.857-19C>A (n.857-19C>A)
c.893-19C>A (n.893-19C>A)
c.846-31C>A
n.38C>A
c.857-31C>A (n.857-31C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.85663514delCA347487683SFTPBc.857-19del (n.857-19del)
c.893-19del (n.893-19del)
c.846-31del
n.38del
c.857-31del (n.857-31del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663513_85663514delCA2659874540SFTPBc.857-20_857-19del (n.857-20_857-19del)
c.893-20_893-19del (n.893-20_893-19del)
c.846-32_846-31del
n.37_38del
c.857-32_857-31del (n.857-32_857-31del)
 gnomAD v4
2g.85663512G>ACA534183679SFTPBc.857-21C>T (n.857-21C>T)
c.893-21C>T (n.893-21C>T)
c.846-33C>T
n.36C>T
c.857-33C>T (n.857-33C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663512G=CA1266876956SFTPBc.857-21C= (n.857-21C=)
c.893-21C= (n.893-21C=)
c.846-33C=
n.36C=
c.857-33C= (n.857-33C=)
2g.85663513G>ACA2659874541SFTPBc.857-22C>T (n.857-22C>T)
c.893-22C>T (n.893-22C>T)
c.846-34C>T
n.35C>T
c.857-34C>T (n.857-34C>T)
 gnomAD v4
2g.85663514G>ACA534183680SFTPBc.857-23C>T (n.857-23C>T)
c.893-23C>T (n.893-23C>T)
c.846-35C>T
n.34C>T
c.857-35C>T (n.857-35C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.85663514G=CA1266876957SFTPBc.857-23C= (n.857-23C=)
c.893-23C= (n.893-23C=)
c.846-35C=
n.34C=
c.857-35C= (n.857-35C=)
2g.85663518G>CCA1266876958SFTPBc.857-27C>G (n.857-27C>G)
c.893-27C>G (n.893-27C>G)
c.846-39C>G
n.30C>G
c.857-39C>G (n.857-39C>G)
 dbSNP gnomAD v4
2g.85663518G=CA1266876959SFTPBc.857-27C= (n.857-27C=)
c.893-27C= (n.893-27C=)
c.846-39C=
n.30C=
c.857-39C= (n.857-39C=)
2g.85663519C>ACA2659874542SFTPBc.857-28G>T (n.857-28G>T)
c.893-28G>T (n.893-28G>T)
c.846-40G>T
n.29G>T
c.857-40G>T (n.857-40G>T)
 gnomAD v4
2g.85663521G>ACA534183681SFTPBc.857-30C>T (n.857-30C>T)
c.893-30C>T (n.893-30C>T)
c.846-42C>T
n.27C>T
c.857-42C>T (n.857-42C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663521G=CA1266876960SFTPBc.857-30C= (n.857-30C=)
c.893-30C= (n.893-30C=)
c.846-42C=
n.27C=
c.857-42C= (n.857-42C=)
2g.85663521G>TCA2659874543SFTPBc.857-30C>A (n.857-30C>A)
c.893-30C>A (n.893-30C>A)
c.846-42C>A
n.27C>A
c.857-42C>A (n.857-42C>A)
 gnomAD v4
2g.85663522G>ACA1743883SFTPBc.857-31C>T (n.857-31C>T)
c.893-31C>T (n.893-31C>T)
c.846-43C>T
n.26C>T
c.857-43C>T (n.857-43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663522G=CA1266876961SFTPBc.857-31C= (n.857-31C=)
c.893-31C= (n.893-31C=)
c.846-43C=
n.26C=
c.857-43C= (n.857-43C=)
2g.85663522G>TCA2659874544SFTPBc.857-31C>A (n.857-31C>A)
c.893-31C>A (n.893-31C>A)
c.846-43C>A
n.26C>A
c.857-43C>A (n.857-43C>A)
 gnomAD v4
2g.85663524A>GCA2659874545SFTPBc.857-33T>C (n.857-33T>C)
c.893-33T>C (n.893-33T>C)
c.846-45T>C
n.24T>C
c.857-45T>C (n.857-45T>C)
 gnomAD v4
2g.85663527G>ACA51751350SFTPBc.857-36C>T (n.857-36C>T)
c.893-36C>T (n.893-36C>T)
c.846-48C>T
n.21C>T
c.857-48C>T (n.857-48C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.85663527G>CCA1743884SFTPBc.857-36C>G (n.857-36C>G)
c.893-36C>G (n.893-36C>G)
c.846-48C>G
n.21C>G
c.857-48C>G (n.857-48C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663527G=CA1266876962SFTPBc.857-36C= (n.857-36C=)
c.893-36C= (n.893-36C=)
c.846-48C=
n.21C=
c.857-48C= (n.857-48C=)
2g.85663527G>TCA1743885SFTPBc.857-36C>A (n.857-36C>A)
c.893-36C>A (n.893-36C>A)
c.846-48C>A
n.21C>A
c.857-48C>A (n.857-48C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663528C>ACA534183682SFTPBc.857-37G>T (n.857-37G>T)
c.893-37G>T (n.893-37G>T)
c.846-49G>T
n.20G>T
c.857-49G>T (n.857-49G>T)
 dbSNP gnomAD v2
2g.85663528C=CA1266876963SFTPBc.857-37G= (n.857-37G=)
c.893-37G= (n.893-37G=)
c.846-49G=
n.20G=
c.857-49G= (n.857-49G=)
2g.85663528C>TCA1743886SFTPBc.857-37G>A (n.857-37G>A)
c.893-37G>A (n.893-37G>A)
c.846-49G>A
n.20G>A
c.857-49G>A (n.857-49G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.85663529C>ACA1743887SFTPBc.857-38G>T (n.857-38G>T)
c.893-38G>T (n.893-38G>T)
c.846-50G>T
n.19G>T
c.857-50G>T (n.857-50G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663529C=CA1266876964SFTPBc.857-38G= (n.857-38G=)
c.893-38G= (n.893-38G=)
c.846-50G=
n.19G=
c.857-50G= (n.857-50G=)
2g.85663529C>TCA1033067972SFTPBc.857-38G>A (n.857-38G>A)
c.893-38G>A (n.893-38G>A)
c.846-50G>A
n.19G>A
c.857-50G>A (n.857-50G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.85663530A>GCA2659874546SFTPBc.857-39T>C (n.857-39T>C)
c.893-39T>C (n.893-39T>C)
c.846-51T>C
n.18T>C
c.857-51T>C (n.857-51T>C)
 gnomAD v4
2g.85663531C>TCA2659874547SFTPBc.857-40G>A (n.857-40G>A)
c.893-40G>A (n.893-40G>A)
c.846-52G>A
n.17G>A
c.857-52G>A (n.857-52G>A)
 gnomAD v4
2g.85663534T>CCA2577022201SFTPBc.857-43A>G (n.857-43A>G)
c.893-43A>G (n.893-43A>G)
c.846-55A>G
n.14A>G
c.857-55A>G (n.857-55A>G)
2g.85663535A>TCA2577022202SFTPBc.857-44T>A (n.857-44T>A)
c.893-44T>A (n.893-44T>A)
c.846-56T>A
n.13T>A
c.857-56T>A (n.857-56T>A)
2g.85663536C>GCA2577022203SFTPBc.857-45G>C (n.857-45G>C)
c.893-45G>C (n.893-45G>C)
c.846-57G>C
n.12G>C
c.857-57G>C (n.857-57G>C)
2g.85663537A>GCA2577022204SFTPBc.857-46T>C (n.857-46T>C)
c.893-46T>C (n.893-46T>C)
c.846-58T>C
n.11T>C
c.857-58T>C (n.857-58T>C)
 gnomAD v4
2g.85663540G>ACA51751383SFTPBc.857-49C>T (n.857-49C>T)
c.893-49C>T (n.893-49C>T)
c.846-61C>T
n.8C>T
c.857-61C>T (n.857-61C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663540G=CA1266876965SFTPBc.857-49C= (n.857-49C=)
c.893-49C= (n.893-49C=)
c.846-61C=
n.8C=
c.857-61C= (n.857-61C=)
2g.85663541G>ACA2659874548SFTPBc.857-50C>T (n.857-50C>T)
c.893-50C>T (n.893-50C>T)
c.846-62C>T
n.7C>T
c.857-62C>T (n.857-62C>T)
 gnomAD v4
2g.85663542T>CCA1743888SFTPBc.857-51A>G (n.857-51A>G)
c.893-51A>G (n.893-51A>G)
c.846-63A>G
n.6A>G
c.857-63A>G (n.857-63A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663542T=CA1266876966SFTPBc.857-51A= (n.857-51A=)
c.893-51A= (n.893-51A=)
c.846-63A=
n.6A=
c.857-63A= (n.857-63A=)
2g.85663544T>ACA1266876968SFTPBc.857-53A>T (n.857-53A>T)
c.893-53A>T (n.893-53A>T)
c.846-65A>T
n.4A>T
c.857-65A>T (n.857-65A>T)
 dbSNP
2g.85663544T=CA1266876967SFTPBc.857-53A= (n.857-53A=)
c.893-53A= (n.893-53A=)
c.846-65A=
n.4A=
c.857-65A= (n.857-65A=)
2g.85663545T>CCA51751393SFTPBc.857-54A>G (n.857-54A>G)
c.893-54A>G (n.893-54A>G)
c.846-66A>G
n.3A>G
c.857-66A>G (n.857-66A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663545T=CA1266876969SFTPBc.857-54A= (n.857-54A=)
c.893-54A= (n.893-54A=)
c.846-66A=
n.3A=
c.857-66A= (n.857-66A=)
2g.85663546T>CCA51751394SFTPBc.857-55A>G (n.857-55A>G)
c.893-55A>G (n.893-55A>G)
c.846-67A>G
n.2A>G
c.857-67A>G (n.857-67A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663546T=CA1266876970SFTPBc.857-55A= (n.857-55A=)
c.893-55A= (n.893-55A=)
c.846-67A=
n.2A=
c.857-67A= (n.857-67A=)
2g.85663547G>TCA2577022205SFTPBc.857-56C>A (n.857-56C>A)
c.893-56C>A (n.893-56C>A)
c.846-68C>A
n.1C>A
c.857-68C>A (n.857-68C>A)
2g.85663548G>TCA2659874549SFTPBc.857-57C>A (n.857-57C>A)
c.893-57C>A (n.893-57C>A)
c.846-69C>A
c.857-69C>A (n.857-69C>A)
 gnomAD v4
2g.85663551T>CCA2699966730SFTPBc.857-60A>G (n.857-60A>G)
c.893-60A>G (n.893-60A>G)
c.846-72A>G
c.857-72A>G (n.857-72A>G)
 dbSNP
2g.85663553T>GCA2659874550SFTPBc.857-62A>C (n.857-62A>C)
c.893-62A>C (n.893-62A>C)
c.846-74A>C
c.857-74A>C (n.857-74A>C)
 gnomAD v4
2g.85663554G>CCA2659874551SFTPBc.857-63C>G (n.857-63C>G)
c.893-63C>G (n.893-63C>G)
c.846-75C>G
c.857-75C>G (n.857-75C>G)
 gnomAD v4
2g.85663554_85663557delinsGTCCCA1266876971SFTPBc.857-66_857-63delinsGGAC (n.857-66_857-63delinsGGAC)
c.893-66_893-63delinsGGAC (n.893-66_893-63delinsGGAC)
c.846-78_846-75delinsGGAC
c.857-78_857-75delinsGGAC (n.857-78_857-75delinsGGAC)
2g.85663555T>CCA2577022206SFTPBc.857-64A>G (n.857-64A>G)
c.893-64A>G (n.893-64A>G)
c.846-76A>G
c.857-76A>G (n.857-76A>G)
2g.85663559_85663561delCA893989108SFTPBc.857-66_857-64del (n.857-66_857-64del)
c.893-66_893-64del (n.893-66_893-64del)
c.846-78_846-76del
c.857-78_857-76del (n.857-78_857-76del)
 dbSNP gnomAD v3 gnomAD v4
2g.85663557C=CA1266876972SFTPBc.857-66G= (n.857-66G=)
c.893-66G= (n.893-66G=)
c.846-78G=
c.857-78G= (n.857-78G=)
2g.85663557C>TCA1266876973SFTPBc.857-66G>A (n.857-66G>A)
c.893-66G>A (n.893-66G>A)
c.846-78G>A
c.857-78G>A (n.857-78G>A)
 dbSNP
2g.85663558T>ACA2750764608SFTPBc.857-67A>T (n.857-67A>T)
c.893-67A>T (n.893-67A>T)
c.846-79A>T
c.857-79A>T (n.857-79A>T)
2g.85663559C>ACA2659874552SFTPBc.857-68G>T (n.857-68G>T)
c.893-68G>T (n.893-68G>T)
c.846-80G>T
c.857-80G>T (n.857-80G>T)
 gnomAD v4
2g.85663560C>ACA2659874553SFTPBc.857-69G>T (n.857-69G>T)
c.893-69G>T (n.893-69G>T)
c.846-81G>T
c.857-81G>T (n.857-81G>T)
 gnomAD v4
2g.85663560C>TCA2659874554SFTPBc.857-69G>A (n.857-69G>A)
c.893-69G>A (n.893-69G>A)
c.846-81G>A
c.857-81G>A (n.857-81G>A)
 gnomAD v4

Number of alleles fetched