Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.1771984G>ACA497287340SERPINF1c.552G>A (p.Val184=)
n.772G>A
c.-10G>A (n.-10G>A)
c.-50G>A (n.-50G>A)
17g.1771984G>CCA497287339SERPINF1c.552G>C (p.Val184=)
n.772G>C
c.-10G>C (n.-10G>C)
c.-50G>C (n.-50G>C)
 gnomAD v4
17g.1771984G>TCA497287338SERPINF1c.552G>T (p.Val184=)
n.772G>T
c.-10G>T (n.-10G>T)
c.-50G>T (n.-50G>T)
17g.1771985C>ACA397586421SERPINF1c.553C>A (p.Gln185Lys)
n.773C>A
c.-9C>A (n.-9C>A)
c.-49C>A (n.-49C>A)
17g.1771985C=CA2243025934SERPINF1c.553C= (p.Gln185=)
n.773C=
c.-9C= (n.-9C=)
c.-49C= (n.-49C=)
17g.1771985C>GCA397586422SERPINF1c.553C>G (p.Gln185Glu)
n.773C>G
c.-9C>G (n.-9C>G)
c.-49C>G (n.-49C>G)
 gnomAD v4
17g.1771985C>TCA397586425SERPINF1c.553C>T (p.Gln185Ter)
n.773C>T
c.-9C>T (n.-9C>T)
c.-49C>T (n.-49C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.1771986A=CA2243025937SERPINF1c.554A= (p.Gln185=)
n.774A=
c.-8A= (n.-8A=)
c.-48A= (n.-48A=)
17g.1771986A>CCA397586428SERPINF1c.554A>C (p.Gln185Pro)
n.774A>C
c.-8A>C (n.-8A>C)
c.-48A>C (n.-48A>C)
17g.1771986A>GCA397586430SERPINF1c.554A>G (p.Gln185Arg)
n.774A>G
c.-8A>G (n.-8A>G)
c.-48A>G (n.-48A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.1771986A>TCA397586434SERPINF1c.554A>T (p.Gln185Leu)
n.774A>T
c.-8A>T (n.-8A>T)
c.-48A>T (n.-48A>T)
17g.1771987G>ACA8274735SERPINF1c.555G>A (p.Gln185=)
n.775G>A
c.-7G>A (n.-7G>A)
c.-47G>A (n.-47G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1771987G>CCA397586439SERPINF1c.555G>C (p.Gln185His)
n.775G>C
c.-7G>C (n.-7G>C)
c.-47G>C (n.-47G>C)
17g.1771987G=CA2243025946SERPINF1c.555G= (p.Gln185=)
n.775G=
c.-7G= (n.-7G=)
c.-47G= (n.-47G=)
17g.1771987G>TCA397586441SERPINF1c.555G>T (p.Gln185His)
n.775G>T
c.-7G>T (n.-7G>T)
c.-47G>T (n.-47G>T)
17g.1771987_1771991dupCA624565155SERPINF1c.555_559dup (p.Gln187ArgfsTer4)
n.775_779dup
c.-7_-3dup (n.-7_-3dup)
c.-47_-43dup (n.-47_-43dup)
 dbSNP gnomAD v2 gnomAD v4
17g.1771988G>ACA397586447SERPINF1c.556G>A (p.Ala186Thr)
n.776G>A
c.-6G>A (n.-6G>A)
c.-46G>A (n.-46G>A)
17g.1771988G>CCA397586450SERPINF1c.556G>C (p.Ala186Pro)
n.776G>C
c.-6G>C (n.-6G>C)
c.-46G>C (n.-46G>C)
17g.1771988G>TCA397586445SERPINF1c.556G>T (p.Ala186Ser)
n.776G>T
c.-6G>T (n.-6G>T)
c.-46G>T (n.-46G>T)
17g.1771989C>ACA397586457SERPINF1c.557C>A (p.Ala186Glu)
n.777C>A
c.-5C>A (n.-5C>A)
c.-45C>A (n.-45C>A)
17g.1771989C=CA2243025950SERPINF1c.557C= (p.Ala186=)
n.777C=
c.-5C= (n.-5C=)
c.-45C= (n.-45C=)
17g.1771989C>GCA397586454SERPINF1c.557C>G (p.Ala186Gly)
n.777C>G
c.-5C>G (n.-5C>G)
c.-45C>G (n.-45C>G)
17g.1771989C>TCA8274736SERPINF1c.557C>T (p.Ala186Val)
n.777C>T
c.-5C>T (n.-5C>T)
c.-45C>T (n.-45C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1771990G>ACA8274737SERPINF1c.558G>A (p.Ala186=)
n.778G>A
c.-4G>A (n.-4G>A)
c.-44G>A (n.-44G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1771990G>CCA497287342SERPINF1c.558G>C (p.Ala186=)
n.778G>C
c.-4G>C (n.-4G>C)
c.-44G>C (n.-44G>C)
17g.1771990G=CA2243025954SERPINF1c.558G= (p.Ala186=)
n.778G=
c.-4G= (n.-4G=)
c.-44G= (n.-44G=)
17g.1771990G>TCA497287341SERPINF1c.558G>T (p.Ala186=)
n.778G>T
c.-4G>T (n.-4G>T)
c.-44G>T (n.-44G>T)
17g.1771991C>ACA397586462SERPINF1c.559C>A (p.Gln187Lys)
n.779C>A
c.-3C>A (n.-3C>A)
c.-43C>A (n.-43C>A)
17g.1771991C=CA2243025959SERPINF1c.559C= (p.Gln187=)
n.779C=
c.-3C= (n.-3C=)
c.-43C= (n.-43C=)
17g.1771991C>GCA397586466SERPINF1c.559C>G (p.Gln187Glu)
n.779C>G
c.-3C>G (n.-3C>G)
c.-43C>G (n.-43C>G)
17g.1771991C>TCA397586469SERPINF1c.559C>T (p.Gln187Ter)
n.779C>T
c.-3C>T (n.-3C>T)
c.-43C>T (n.-43C>T)
 ClinVar dbSNP
17g.1771992A>CCA397586473SERPINF1c.560A>C (p.Gln187Pro)
n.780A>C
c.-2A>C (n.-2A>C)
c.-42A>C (n.-42A>C)
17g.1771992A>GCA397586475SERPINF1c.560A>G (p.Gln187Arg)
n.780A>G
c.-2A>G (n.-2A>G)
c.-42A>G (n.-42A>G)
17g.1771992A>TCA397586478SERPINF1c.560A>T (p.Gln187Leu)
n.780A>T
c.-2A>T (n.-2A>T)
c.-42A>T (n.-42A>T)
17g.1771993G>ACA8274738SERPINF1c.561G>A (p.Gln187=)
n.781G>A
c.-1G>A (n.-1G>A)
c.-41G>A (n.-41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1771993G>CCA397586482SERPINF1c.561G>C (p.Gln187His)
n.781G>C
c.-1G>C (n.-1G>C)
c.-41G>C (n.-41G>C)
17g.1771993G=CA2243025962SERPINF1c.561G= (p.Gln187=)
n.781G=
c.-1G= (n.-1G=)
c.-41G= (n.-41G=)
17g.1771993G>TCA397586486SERPINF1c.561G>T (p.Gln187His)
n.781G>T
c.-1G>T (n.-1G>T)
c.-41G>T (n.-41G>T)
17g.1771994A>CCA397586489SERPINF1c.562A>C (p.Met188Leu)
n.782A>C
c.1A>C (p.Met1Leu)
c.-40A>C (n.-40A>C)
17g.1771994A>GCA397586491SERPINF1c.562A>G (p.Met188Val)
n.782A>G
c.1A>G (p.Met1Val)
c.-40A>G (n.-40A>G)
17g.1771994A>TCA397586494SERPINF1c.562A>T (p.Met188Leu)
n.782A>T
c.1A>T (p.Met1Leu)
c.-40A>T (n.-40A>T)
17g.1771995T>ACA397586502SERPINF1c.563T>A (p.Met188Lys)
n.783T>A
c.2T>A (p.Met1Lys)
c.-39T>A (n.-39T>A)
17g.1771995T>CCA397586500SERPINF1c.563T>C (p.Met188Thr)
n.783T>C
c.2T>C (p.Met1Thr)
c.-39T>C (n.-39T>C)
17g.1771995T>GCA397586497SERPINF1c.563T>G (p.Met188Arg)
n.783T>G
c.2T>G (p.Met1Arg)
c.-39T>G (n.-39T>G)
17g.1771996G>ACA397586506SERPINF1c.564G>A (p.Met188Ile)
n.784G>A
c.3G>A (p.Met1Ile)
c.-38G>A (n.-38G>A)
17g.1771996G>CCA397586508SERPINF1c.564G>C (p.Met188Ile)
n.784G>C
c.3G>C (p.Met1Ile)
c.-38G>C (n.-38G>C)
17g.1771996G>TCA397586515SERPINF1c.564G>T (p.Met188Ile)
n.784G>T
c.3G>T (p.Met1Ile)
c.-38G>T (n.-38G>T)
 gnomAD v4
17g.1771997_1772001delCA2635276236SERPINF1c.565_569del (p.Lys189GlufsTer12)
n.785_789del
c.4_8del (p.Lys2GlufsTer12)
c.-37_-33del (n.-37_-33del)
 gnomAD v4
17g.1771997A>CCA397586519SERPINF1c.565A>C (p.Lys189Gln)
n.785A>C
c.4A>C (p.Lys2Gln)
c.-37A>C (n.-37A>C)
17g.1771997A>GCA397586522SERPINF1c.565A>G (p.Lys189Glu)
n.785A>G
c.4A>G (p.Lys2Glu)
c.-37A>G (n.-37A>G)
17g.1771997A>TCA397586524SERPINF1c.565A>T (p.Lys189Ter)
n.785A>T
c.4A>T (p.Lys2Ter)
c.-37A>T (n.-37A>T)
17g.1771998A>CCA397586527SERPINF1c.566A>C (p.Lys189Thr)
n.786A>C
c.5A>C (p.Lys2Thr)
c.-36A>C (n.-36A>C)
17g.1771998A>GCA397586529SERPINF1c.566A>G (p.Lys189Arg)
n.786A>G
c.5A>G (p.Lys2Arg)
c.-36A>G (n.-36A>G)
17g.1771998A>TCA397586533SERPINF1c.566A>T (p.Lys189Ile)
n.786A>T
c.5A>T (p.Lys2Ile)
c.-36A>T (n.-36A>T)
17g.1771999A>CCA397586536SERPINF1c.567A>C (p.Lys189Asn)
n.787A>C
c.6A>C (p.Lys2Asn)
c.-35A>C (n.-35A>C)
17g.1771999A>GCA497287343SERPINF1c.567A>G (p.Lys189=)
n.787A>G
c.6A>G (p.Lys2=)
c.-35A>G (n.-35A>G)
17g.1771999A>TCA397586538SERPINF1c.567A>T (p.Lys189Asn)
n.787A>T
c.6A>T (p.Lys2Asn)
c.-35A>T (n.-35A>T)
17g.1772000G>ACA8274739SERPINF1c.568G>A (p.Gly190Arg)
n.788G>A
c.7G>A (p.Gly3Arg)
c.-34G>A (n.-34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772000G>CCA397586543SERPINF1c.568G>C (p.Gly190Arg)
n.788G>C
c.7G>C (p.Gly3Arg)
c.-34G>C (n.-34G>C)
17g.1772000G=CA2243025965SERPINF1c.568G= (p.Gly190=)
n.788G=
c.7G= (p.Gly3=)
c.-34G= (n.-34G=)
17g.1772000G>TCA397586546SERPINF1c.568G>T (p.Gly190Trp)
n.788G>T
c.7G>T (p.Gly3Trp)
c.-34G>T (n.-34G>T)
17g.1772001G>ACA397586553SERPINF1c.569G>A (p.Gly190Glu)
n.789G>A
c.8G>A (p.Gly3Glu)
c.-33G>A (n.-33G>A)
17g.1772001G>CCA397586551SERPINF1c.569G>C (p.Gly190Ala)
n.789G>C
c.8G>C (p.Gly3Ala)
c.-33G>C (n.-33G>C)
17g.1772001G=CA2243025971SERPINF1c.569G= (p.Gly190=)
n.789G=
c.8G= (p.Gly3=)
c.-33G= (n.-33G=)
17g.1772001G>TCA397586549SERPINF1c.569G>T (p.Gly190Val)
n.789G>T
c.8G>T (p.Gly3Val)
c.-33G>T (n.-33G>T)
 dbSNP gnomAD v3 gnomAD v4
17g.1772002G>ACA497287345SERPINF1c.570G>A (p.Gly190=)
n.790G>A
c.9G>A (p.Gly3=)
c.-32G>A (n.-32G>A)
 gnomAD v4
17g.1772002G>CCA497287346SERPINF1c.570G>C (p.Gly190=)
n.790G>C
c.9G>C (p.Gly3=)
c.-32G>C (n.-32G>C)
17g.1772002G>TCA497287344SERPINF1c.570G>T (p.Gly190=)
n.790G>T
c.9G>T (p.Gly3=)
c.-32G>T (n.-32G>T)
17g.1772003A=CA2243025976SERPINF1c.571A= (p.Lys191=)
n.791A=
c.10A= (p.Lys4=)
c.-31A= (n.-31A=)
17g.1772003A>CCA397586556SERPINF1c.571A>C (p.Lys191Gln)
n.791A>C
c.10A>C (p.Lys4Gln)
c.-31A>C (n.-31A>C)
17g.1772003A>GCA397586560SERPINF1c.571A>G (p.Lys191Glu)
n.791A>G
c.10A>G (p.Lys4Glu)
c.-31A>G (n.-31A>G)
 dbSNP
17g.1772003A>TCA397586562SERPINF1c.571A>T (p.Lys191Ter)
n.791A>T
c.10A>T (p.Lys4Ter)
c.-31A>T (n.-31A>T)
17g.1772004A=CA2243025980SERPINF1c.572A= (p.Lys191=)
n.792A=
c.11A= (p.Lys4=)
c.-30A= (n.-30A=)
17g.1772004A>CCA397586566SERPINF1c.572A>C (p.Lys191Thr)
n.792A>C
c.11A>C (p.Lys4Thr)
c.-30A>C (n.-30A>C)
17g.1772004A>GCA397586568SERPINF1c.572A>G (p.Lys191Arg)
n.792A>G
c.11A>G (p.Lys4Arg)
c.-30A>G (n.-30A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.1772004A>TCA397586570SERPINF1c.572A>T (p.Lys191Met)
n.792A>T
c.11A>T (p.Lys4Met)
c.-30A>T (n.-30A>T)
17g.1772005G>ACA497287350SERPINF1c.573G>A (p.Lys191=)
n.793G>A
c.12G>A (p.Lys4=)
c.-29G>A (n.-29G>A)
 gnomAD v4
17g.1772005G>CCA397586574SERPINF1c.573G>C (p.Lys191Asn)
n.793G>C
c.12G>C (p.Lys4Asn)
c.-29G>C (n.-29G>C)
 gnomAD v4
17g.1772005G>TCA397586576SERPINF1c.573G>T (p.Lys191Asn)
n.793G>T
c.12G>T (p.Lys4Asn)
c.-29G>T (n.-29G>T)
17g.1772006C>ACA397586579SERPINF1c.574C>A (p.Leu192Ile)
n.794C>A
c.13C>A (p.Leu5Ile)
c.-28C>A (n.-28C>A)
17g.1772006C>GCA397586584SERPINF1c.574C>G (p.Leu192Val)
n.794C>G
c.13C>G (p.Leu5Val)
c.-28C>G (n.-28C>G)
17g.1772006C>TCA397586582SERPINF1c.574C>T (p.Leu192Phe)
n.794C>T
c.13C>T (p.Leu5Phe)
c.-28C>T (n.-28C>T)
 COSMIC
17g.1772007T>ACA397586587SERPINF1c.575T>A (p.Leu192His)
n.795T>A
c.14T>A (p.Leu5His)
c.-27T>A (n.-27T>A)
17g.1772007T>CCA397586590SERPINF1c.575T>C (p.Leu192Pro)
n.795T>C
c.14T>C (p.Leu5Pro)
c.-27T>C (n.-27T>C)
17g.1772007T>GCA397586592SERPINF1c.575T>G (p.Leu192Arg)
n.795T>G
c.14T>G (p.Leu5Arg)
c.-27T>G (n.-27T>G)
17g.1772008C>ACA286846258SERPINF1c.576C>A (p.Leu192=)
n.796C>A
c.15C>A (p.Leu5=)
c.-26C>A (n.-26C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1772008C=CA2243025985SERPINF1c.576C= (p.Leu192=)
n.796C=
c.15C= (p.Leu5=)
c.-26C= (n.-26C=)
17g.1772008C>GCA497287353SERPINF1c.576C>G (p.Leu192=)
n.796C>G
c.15C>G (p.Leu5=)
c.-26C>G (n.-26C>G)
17g.1772008C>TCA286846263SERPINF1c.576C>T (p.Leu192=)
n.796C>T
c.15C>T (p.Leu5=)
c.-26C>T (n.-26C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1772009G>ACA8274740SERPINF1c.577G>A (p.Ala193Thr)
n.797G>A
c.16G>A (p.Ala6Thr)
c.-25G>A (n.-25G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772009G>CCA397586603SERPINF1c.577G>C (p.Ala193Pro)
n.797G>C
c.16G>C (p.Ala6Pro)
c.-25G>C (n.-25G>C)
17g.1772009G=CA2243025993SERPINF1c.577G= (p.Ala193=)
n.797G=
c.16G= (p.Ala6=)
c.-25G= (n.-25G=)
17g.1772009G>TCA397586600SERPINF1c.577G>T (p.Ala193Ser)
n.797G>T
c.16G>T (p.Ala6Ser)
c.-25G>T (n.-25G>T)
17g.1772010C>ACA397586606SERPINF1c.578C>A (p.Ala193Asp)
n.798C>A
c.17C>A (p.Ala6Asp)
c.-24C>A (n.-24C>A)
 gnomAD v4
17g.1772010C>GCA397586609SERPINF1c.578C>G (p.Ala193Gly)
n.798C>G
c.17C>G (p.Ala6Gly)
c.-24C>G (n.-24C>G)
17g.1772010C>TCA397586611SERPINF1c.578C>T (p.Ala193Val)
n.798C>T
c.17C>T (p.Ala6Val)
c.-24C>T (n.-24C>T)
17g.1772011C>ACA497287354SERPINF1c.579C>A (p.Ala193=)
n.799C>A
c.18C>A (p.Ala6=)
c.-23C>A (n.-23C>A)
17g.1772011C>GCA497287355SERPINF1c.579C>G (p.Ala193=)
n.799C>G
c.18C>G (p.Ala6=)
c.-23C>G (n.-23C>G)
17g.1772011C>TCA497287357SERPINF1c.579C>T (p.Ala193=)
n.799C>T
c.18C>T (p.Ala6=)
c.-23C>T (n.-23C>T)
17g.1772012A=CA2243025997SERPINF1c.580A= (p.Arg194=)
n.800A=
c.19A= (p.Arg7=)
c.-22A= (n.-22A=)
17g.1772012A>CCA497287358SERPINF1c.580A>C (p.Arg194=)
n.800A>C
c.19A>C (p.Arg7=)
c.-22A>C (n.-22A>C)
17g.1772012A>GCA8274741SERPINF1c.580A>G (p.Arg194Gly)
n.800A>G
c.19A>G (p.Arg7Gly)
c.-22A>G (n.-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772012A>TCA397586616SERPINF1c.580A>T (p.Arg194Trp)
n.800A>T
c.19A>T (p.Arg7Trp)
c.-22A>T (n.-22A>T)
 gnomAD v4
17g.1772013G>ACA397586619SERPINF1c.581G>A (p.Arg194Lys)
n.801G>A
c.20G>A (p.Arg7Lys)
c.-21G>A (n.-21G>A)
17g.1772013G>CCA397586622SERPINF1c.581G>C (p.Arg194Thr)
n.801G>C
c.20G>C (p.Arg7Thr)
c.-21G>C (n.-21G>C)
17g.1772013G>TCA397586624SERPINF1c.581G>T (p.Arg194Met)
n.801G>T
c.20G>T (p.Arg7Met)
c.-21G>T (n.-21G>T)
17g.1772014G>ACA8274742SERPINF1c.582G>A (p.Arg194=)
n.802G>A
c.21G>A (p.Arg7=)
c.-20G>A (n.-20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772014G>CCA397586629SERPINF1c.582G>C (p.Arg194Ser)
n.802G>C
c.21G>C (p.Arg7Ser)
c.-20G>C (n.-20G>C)
 gnomAD v4
17g.1772014G=CA2243026000SERPINF1c.582G= (p.Arg194=)
n.802G=
c.21G= (p.Arg7=)
c.-20G= (n.-20G=)
17g.1772014G>TCA397586632SERPINF1c.582G>T (p.Arg194Ser)
n.802G>T
c.21G>T (p.Arg7Ser)
c.-20G>T (n.-20G>T)
 dbSNP gnomAD v3 gnomAD v4
17g.1772015T>ACA397586637SERPINF1c.583T>A (p.Ser195Thr)
n.803T>A
c.22T>A (p.Ser8Thr)
c.-19T>A (n.-19T>A)
17g.1772015T>CCA397586642SERPINF1c.583T>C (p.Ser195Pro)
n.803T>C
c.22T>C (p.Ser8Pro)
c.-19T>C (n.-19T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.1772015T>GCA397586639SERPINF1c.583T>G (p.Ser195Ala)
n.803T>G
c.22T>G (p.Ser8Ala)
c.-19T>G (n.-19T>G)
17g.1772015T=CA2243026004SERPINF1c.583T= (p.Ser195=)
n.803T=
c.22T= (p.Ser8=)
c.-19T= (n.-19T=)
17g.1772016C>ACA397586646SERPINF1c.584C>A (p.Ser195Tyr)
n.804C>A
c.23C>A (p.Ser8Tyr)
c.-18C>A (n.-18C>A)
17g.1772016C>GCA397586648SERPINF1c.584C>G (p.Ser195Cys)
n.804C>G
c.23C>G (p.Ser8Cys)
c.-18C>G (n.-18C>G)
17g.1772016C>TCA397586651SERPINF1c.584C>T (p.Ser195Phe)
n.804C>T
c.23C>T (p.Ser8Phe)
c.-18C>T (n.-18C>T)
 gnomAD v4
17g.1772017C>ACA497287361SERPINF1c.585C>A (p.Ser195=)
n.805C>A
c.24C>A (p.Ser8=)
c.-17C>A (n.-17C>A)
17g.1772017C>GCA497287363SERPINF1c.585C>G (p.Ser195=)
n.805C>G
c.24C>G (p.Ser8=)
c.-17C>G (n.-17C>G)
17g.1772017C>TCA497287362SERPINF1c.585C>T (p.Ser195=)
n.805C>T
c.24C>T (p.Ser8=)
c.-17C>T (n.-17C>T)
17g.1772018A>CCA397586655SERPINF1c.586A>C (p.Thr196Pro)
n.806A>C
c.25A>C (p.Thr9Pro)
c.-16A>C (n.-16A>C)
17g.1772018A>GCA397586658SERPINF1c.586A>G (p.Thr196Ala)
n.806A>G
c.25A>G (p.Thr9Ala)
c.-16A>G (n.-16A>G)
17g.1772018A>TCA397586660SERPINF1c.586A>T (p.Thr196Ser)
n.806A>T
c.25A>T (p.Thr9Ser)
c.-16A>T (n.-16A>T)
17g.1772019C>ACA397586667SERPINF1c.587C>A (p.Thr196Lys)
n.807C>A
c.26C>A (p.Thr9Lys)
c.-15C>A (n.-15C>A)
17g.1772019C=CA2243026010SERPINF1c.587C= (p.Thr196=)
n.807C=
c.26C= (p.Thr9=)
c.-15C= (n.-15C=)
17g.1772019C>GCA8274743SERPINF1c.587C>G (p.Thr196Arg)
n.807C>G
c.26C>G (p.Thr9Arg)
c.-15C>G (n.-15C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1772019C>TCA10644984SERPINF1c.587C>T (p.Thr196Ile)
n.807C>T
c.26C>T (p.Thr9Ile)
c.-15C>T (n.-15C>T)
 ClinVar dbSNP
17g.1772020A>CCA497287367SERPINF1c.588A>C (p.Thr196=)
n.808A>C
c.27A>C (p.Thr9=)
c.-14A>C (n.-14A>C)
17g.1772020A>GCA497287368SERPINF1c.588A>G (p.Thr196=)
n.808A>G
c.27A>G (p.Thr9=)
c.-14A>G (n.-14A>G)
 gnomAD v4
17g.1772020A>TCA497287369SERPINF1c.588A>T (p.Thr196=)
n.808A>T
c.27A>T (p.Thr9=)
c.-14A>T (n.-14A>T)
17g.1772021A=CA2243026024SERPINF1c.589A= (p.Lys197=)
n.809A=
c.28A= (p.Lys10=)
c.-13A= (n.-13A=)
17g.1772021A>CCA397586671SERPINF1c.589A>C (p.Lys197Gln)
n.809A>C
c.28A>C (p.Lys10Gln)
c.-13A>C (n.-13A>C)
17g.1772021A>GCA397586674SERPINF1c.589A>G (p.Lys197Glu)
n.809A>G
c.28A>G (p.Lys10Glu)
c.-13A>G (n.-13A>G)
 dbSNP gnomAD v4
17g.1772021A>TCA397586677SERPINF1c.589A>T (p.Lys197Ter)
n.809A>T
c.28A>T (p.Lys10Ter)
c.-13A>T (n.-13A>T)
17g.1772022A=CA2243026028SERPINF1c.590A= (p.Lys197=)
n.810A=
c.29A= (p.Lys10=)
c.-12A= (n.-12A=)
17g.1772022A>CCA397586680SERPINF1c.590A>C (p.Lys197Thr)
n.810A>C
c.29A>C (p.Lys10Thr)
c.-12A>C (n.-12A>C)
17g.1772022A>GCA397586681SERPINF1c.590A>G (p.Lys197Arg)
n.810A>G
c.29A>G (p.Lys10Arg)
c.-12A>G (n.-12A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.1772022A>TCA397586683SERPINF1c.590A>T (p.Lys197Met)
n.810A>T
c.29A>T (p.Lys10Met)
c.-12A>T (n.-12A>T)
17g.1772023G>ACA8274744SERPINF1c.591G>A (p.Lys197=)
n.811G>A
c.30G>A (p.Lys10=)
c.-11G>A (n.-11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1772023G>CCA397586688SERPINF1c.591G>C (p.Lys197Asn)
n.811G>C
c.30G>C (p.Lys10Asn)
c.-11G>C (n.-11G>C)
17g.1772023G=CA2243026034SERPINF1c.591G= (p.Lys197=)
n.811G=
c.30G= (p.Lys10=)
c.-11G= (n.-11G=)
17g.1772023G>TCA397586685SERPINF1c.591G>T (p.Lys197Asn)
n.811G>T
c.30G>T (p.Lys10Asn)
c.-11G>T (n.-11G>T)
17g.1772024G>ACA397586691SERPINF1c.592G>A (p.Glu198Lys)
n.812G>A
c.31G>A (p.Glu11Lys)
c.-10G>A (n.-10G>A)
17g.1772024G>CCA397586693SERPINF1c.592G>C (p.Glu198Gln)
n.812G>C
c.31G>C (p.Glu11Gln)
c.-10G>C (n.-10G>C)
17g.1772024G>TCA397586695SERPINF1c.592G>T (p.Glu198Ter)
n.812G>T
c.31G>T (p.Glu11Ter)
c.-10G>T (n.-10G>T)
17g.1772025A=CA2243026038SERPINF1c.593A= (p.Glu198=)
n.813A=
c.32A= (p.Glu11=)
c.-9A= (n.-9A=)
17g.1772025A>CCA397586699SERPINF1c.593A>C (p.Glu198Ala)
n.813A>C
c.32A>C (p.Glu11Ala)
c.-9A>C (n.-9A>C)
17g.1772025A>GCA397586702SERPINF1c.593A>G (p.Glu198Gly)
n.813A>G
c.32A>G (p.Glu11Gly)
c.-9A>G (n.-9A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.1772025A>TCA397586705SERPINF1c.593A>T (p.Glu198Val)
n.813A>T
c.32A>T (p.Glu11Val)
c.-9A>T (n.-9A>T)
17g.1772026A>CCA397586708SERPINF1c.594A>C (p.Glu198Asp)
n.814A>C
c.33A>C (p.Glu11Asp)
c.-8A>C (n.-8A>C)
17g.1772026A>GCA497287376SERPINF1c.594A>G (p.Glu198=)
n.814A>G
c.33A>G (p.Glu11=)
c.-8A>G (n.-8A>G)
17g.1772026A>TCA397586710SERPINF1c.594A>T (p.Glu198Asp)
n.814A>T
c.33A>T (p.Glu11Asp)
c.-8A>T (n.-8A>T)
17g.1772027A>CCA397586714SERPINF1c.595A>C (p.Ile199Leu)
n.815A>C
c.34A>C (p.Ile12Leu)
c.-7A>C (n.-7A>C)
17g.1772027A>GCA397586715SERPINF1c.595A>G (p.Ile199Val)
n.815A>G
c.34A>G (p.Ile12Val)
c.-7A>G (n.-7A>G)
 gnomAD v4
17g.1772027A>TCA397586718SERPINF1c.595A>T (p.Ile199Phe)
n.815A>T
c.34A>T (p.Ile12Phe)
c.-7A>T (n.-7A>T)
17g.1772028T>ACA8274745SERPINF1c.596T>A (p.Ile199Asn)
n.816T>A
c.35T>A (p.Ile12Asn)
c.-6T>A (n.-6T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772028T>CCA397586724SERPINF1c.596T>C (p.Ile199Thr)
n.816T>C
c.35T>C (p.Ile12Thr)
c.-6T>C (n.-6T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.1772028T>GCA397586721SERPINF1c.596T>G (p.Ile199Ser)
n.816T>G
c.35T>G (p.Ile12Ser)
c.-6T>G (n.-6T>G)
17g.1772028T=CA2243026041SERPINF1c.596T= (p.Ile199=)
n.816T=
c.35T= (p.Ile12=)
c.-6T= (n.-6T=)
17g.1772029T>ACA497287381SERPINF1c.597T>A (p.Ile199=)
n.817T>A
c.36T>A (p.Ile12=)
c.-5T>A (n.-5T>A)
17g.1772029T>CCA497287382SERPINF1c.597T>C (p.Ile199=)
n.817T>C
c.36T>C (p.Ile12=)
c.-5T>C (n.-5T>C)
17g.1772029T>GCA397586726SERPINF1c.597T>G (p.Ile199Met)
n.817T>G
c.36T>G (p.Ile12Met)
c.-5T>G (n.-5T>G)
17g.1772030C>ACA397586730SERPINF1c.598C>A (p.Pro200Thr)
n.818C>A
c.37C>A (p.Pro13Thr)
c.-4C>A (n.-4C>A)
17g.1772030C=CA2243026043SERPINF1c.598C= (p.Pro200=)
n.818C=
c.37C= (p.Pro13=)
c.-4C= (n.-4C=)
17g.1772030C>GCA8274746SERPINF1c.598C>G (p.Pro200Ala)
n.818C>G
c.37C>G (p.Pro13Ala)
c.-4C>G (n.-4C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772030C>TCA397586733SERPINF1c.598C>T (p.Pro200Ser)
n.818C>T
c.37C>T (p.Pro13Ser)
c.-4C>T (n.-4C>T)
17g.1772031C>ACA397586736SERPINF1c.599C>A (p.Pro200His)
n.819C>A
c.38C>A (p.Pro13His)
c.-3C>A (n.-3C>A)
17g.1772031C=CA2243026048SERPINF1c.599C= (p.Pro200=)
n.819C=
c.38C= (p.Pro13=)
c.-3C= (n.-3C=)
17g.1772031C>GCA8274747SERPINF1c.599C>G (p.Pro200Arg)
n.819C>G
c.38C>G (p.Pro13Arg)
c.-3C>G (n.-3C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1772031C>TCA397586740SERPINF1c.599C>T (p.Pro200Leu)
n.819C>T
c.38C>T (p.Pro13Leu)
c.-3C>T (n.-3C>T)
 dbSNP gnomAD v4
17g.1772032C>ACA286846292SERPINF1c.600C>A (p.Pro200=)
n.820C>A
c.39C>A (p.Pro13=)
c.-2C>A (n.-2C>A)
 dbSNP
17g.1772032C=CA2243026065SERPINF1c.600C= (p.Pro200=)
n.820C=
c.39C= (p.Pro13=)
c.-2C= (n.-2C=)
17g.1772032C>GCA497287383SERPINF1c.600C>G (p.Pro200=)
n.820C>G
c.39C>G (p.Pro13=)
c.-2C>G (n.-2C>G)
17g.1772032C>TCA497287384SERPINF1c.600C>T (p.Pro200=)
n.820C>T
c.39C>T (p.Pro13=)
c.-2C>T (n.-2C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1772033G>ACA8274748SERPINF1c.601G>A (p.Asp201Asn)
c.40G>A (p.Asp14Asn)
c.-1G>A (n.-1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772033G>CCA8274749SERPINF1c.601G>C (p.Asp201His)
c.40G>C (p.Asp14His)
c.-1G>C (n.-1G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1772033G=CA2243026072SERPINF1c.601G= (p.Asp201=)
c.40G= (p.Asp14=)
c.-1G= (n.-1G=)
17g.1772033G>TCA397586750SERPINF1c.601G>T (p.Asp201Tyr)
c.40G>T (p.Asp14Tyr)
c.-1G>T (n.-1G>T)
17g.1772034A>CCA397586758SERPINF1c.602A>C (p.Asp201Ala)
c.41A>C (p.Asp14Ala)
c.1A>C (p.Met1Leu)
17g.1772034A>GCA397586756SERPINF1c.602A>G (p.Asp201Gly)
c.41A>G (p.Asp14Gly)
c.1A>G (p.Met1Val)
17g.1772034A>TCA397586753SERPINF1c.602A>T (p.Asp201Val)
c.41A>T (p.Asp14Val)
c.1A>T (p.Met1Leu)
17g.1772035T>ACA397586760SERPINF1c.603T>A (p.Asp201Glu)
c.42T>A (p.Asp14Glu)
c.2T>A (p.Met1Lys)
 dbSNP gnomAD v3 gnomAD v4
17g.1772035T>CCA397586762SERPINF1c.603T>C (p.Asp201=)
c.42T>C (p.Asp14=)
c.2T>C (p.Met1Thr)
 ClinVar dbSNP gnomAD v4
17g.1772035T>GCA397586764SERPINF1c.603T>G (p.Asp201Glu)
c.42T>G (p.Asp14Glu)
c.2T>G (p.Met1Arg)
 gnomAD v4
17g.1772035T=CA2243026079SERPINF1c.603T= (p.Asp201=)
c.42T= (p.Asp14=)
c.2T= (p.Met1=)
17g.1772036G>ACA397586765SERPINF1c.604G>A (p.Glu202Lys)
c.43G>A (p.Glu15Lys)
c.3G>A (p.Met1Ile)
17g.1772036G>CCA397586766SERPINF1c.604G>C (p.Glu202Gln)
c.43G>C (p.Glu15Gln)
c.3G>C (p.Met1Ile)
17g.1772036G>TCA397586767SERPINF1c.604G>T (p.Glu202Ter)
c.43G>T (p.Glu15Ter)
c.3G>T (p.Met1Ile)
17g.1772036dupCA2739267016SERPINF1c.604dup (p.Glu202GlyfsTer21)
c.43dup (p.Glu15GlyfsTer21)
c.3dup (p.Arg2GlufsTer19)
 ClinVar
17g.1772037A>CCA397586769SERPINF1c.605A>C (p.Glu202Ala)
c.44A>C (p.Glu15Ala)
c.4A>C (p.Arg2=)
17g.1772037A>GCA397586771SERPINF1c.605A>G (p.Glu202Gly)
c.44A>G (p.Glu15Gly)
c.4A>G (p.Arg2Gly)
17g.1772037A>TCA397586774SERPINF1c.605A>T (p.Glu202Val)
c.44A>T (p.Glu15Val)
c.4A>T (p.Arg2Ter)
17g.1772038G>ACA397586777SERPINF1c.606G>A (p.Glu202=)
c.45G>A (p.Glu15=)
c.5G>A (p.Arg2Lys)
17g.1772038G>CCA397586779SERPINF1c.606G>C (p.Glu202Asp)
c.45G>C (p.Glu15Asp)
c.5G>C (p.Arg2Thr)
17g.1772038G=CA2243026082SERPINF1c.606G= (p.Glu202=)
c.45G= (p.Glu15=)
c.5G= (p.Arg2=)
17g.1772038G>TCA8274750SERPINF1c.606G>T (p.Glu202Asp)
c.45G>T (p.Glu15Asp)
c.5G>T (p.Arg2Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772039A>CCA397586787SERPINF1c.607A>C (p.Ile203Leu)
c.46A>C (p.Ile16Leu)
c.6A>C (p.Arg2Ser)
17g.1772039A>GCA397586785SERPINF1c.607A>G (p.Ile203Val)
c.46A>G (p.Ile16Val)
c.6A>G (p.Arg2=)
17g.1772039A>TCA397586783SERPINF1c.607A>T (p.Ile203Phe)
c.46A>T (p.Ile16Phe)
c.6A>T (p.Arg2Ser)
17g.1772040T>ACA397586789SERPINF1c.608T>A (p.Ile203Asn)
c.47T>A (p.Ile16Asn)
c.7T>A (p.Ser3Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.1772040T>CCA397586793SERPINF1c.608T>C (p.Ile203Thr)
c.47T>C (p.Ile16Thr)
c.7T>C (p.Ser3Pro)
17g.1772040T>GCA397586791SERPINF1c.608T>G (p.Ile203Ser)
c.47T>G (p.Ile16Ser)
c.7T>G (p.Ser3Ala)
17g.1772040T=CA2243026087SERPINF1c.608T= (p.Ile203=)
c.47T= (p.Ile16=)
c.7T= (p.Ser3=)
17g.1772041C>ACA397586797SERPINF1c.609C>A (p.Ile203=)
c.48C>A (p.Ile16=)
c.8C>A (p.Ser3Ter)
17g.1772041C=CA2243026090SERPINF1c.609C= (p.Ile203=)
c.48C= (p.Ile16=)
c.8C= (p.Ser3=)
17g.1772041C>GCA397586801SERPINF1c.609C>G (p.Ile203Met)
c.48C>G (p.Ile16Met)
c.8C>G (p.Ser3Ter)
17g.1772041C>TCA8274751SERPINF1c.609C>T (p.Ile203=)
c.48C>T (p.Ile16=)
c.8C>T (p.Ser3Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772042A=CA2243026093SERPINF1c.610A= (p.Ser204=)
c.49A= (p.Ser17=)
c.9A= (p.Ser3=)
17g.1772042A>CCA397586804SERPINF1c.610A>C (p.Ser204Arg)
c.49A>C (p.Ser17Arg)
c.9A>C (p.Ser3=)
 dbSNP
17g.1772042A>GCA397586805SERPINF1c.610A>G (p.Ser204Gly)
c.49A>G (p.Ser17Gly)
c.9A>G (p.Ser3=)
 dbSNP gnomAD v4
17g.1772042A>TCA397586807SERPINF1c.610A>T (p.Ser204Cys)
c.49A>T (p.Ser17Cys)
c.9A>T (p.Ser3=)
17g.1772043G>ACA397586811SERPINF1c.611G>A (p.Ser204Asn)
c.50G>A (p.Ser17Asn)
c.10G>A (p.Ala4Thr)
17g.1772043G>CCA397586813SERPINF1c.611G>C (p.Ser204Thr)
c.50G>C (p.Ser17Thr)
c.10G>C (p.Ala4Pro)
17g.1772043G>TCA397586816SERPINF1c.611G>T (p.Ser204Ile)
c.50G>T (p.Ser17Ile)
c.10G>T (p.Ala4Ser)
17g.1772044C>ACA397586819SERPINF1c.612C>A (p.Ser204Arg)
c.51C>A (p.Ser17Arg)
c.11C>A (p.Ala4Glu)
17g.1772044C>GCA397586821SERPINF1c.612C>G (p.Ser204Arg)
c.51C>G (p.Ser17Arg)
c.11C>G (p.Ala4Gly)
17g.1772044C>TCA397586825SERPINF1c.612C>T (p.Ser204=)
c.51C>T (p.Ser17=)
c.11C>T (p.Ala4Val)
 gnomAD v4
17g.1772045A>CCA397586828SERPINF1c.613A>C (p.Ile205Leu)
c.52A>C (p.Ile18Leu)
c.12A>C (p.Ala4=)
17g.1772045A>GCA397586830SERPINF1c.613A>G (p.Ile205Val)
c.52A>G (p.Ile18Val)
c.12A>G (p.Ala4=)
 gnomAD v4
17g.1772045A>TCA397586832SERPINF1c.613A>T (p.Ile205Phe)
c.52A>T (p.Ile18Phe)
c.12A>T (p.Ala4=)
17g.1772046T>ACA397586834SERPINF1c.614T>A (p.Ile205Asn)
c.53T>A (p.Ile18Asn)
c.13T>A (p.Phe5Ile)
17g.1772046T>CCA397586838SERPINF1c.614T>C (p.Ile205Thr)
c.53T>C (p.Ile18Thr)
c.13T>C (p.Phe5Leu)
17g.1772046T>GCA397586837SERPINF1c.614T>G (p.Ile205Ser)
c.53T>G (p.Ile18Ser)
c.13T>G (p.Phe5Val)
17g.1772047T>ACA397586842SERPINF1c.615T>A (p.Ile205=)
c.54T>A (p.Ile18=)
c.14T>A (p.Phe5Tyr)
17g.1772047T>CCA286846328SERPINF1c.615T>C (p.Ile205=)
c.54T>C (p.Ile18=)
c.14T>C (p.Phe5Ser)
 dbSNP gnomAD v4
17g.1772047T>GCA397586846SERPINF1c.615T>G (p.Ile205Met)
c.54T>G (p.Ile18Met)
c.14T>G (p.Phe5Cys)
17g.1772047T=CA2243026095SERPINF1c.615T= (p.Ile205=)
c.54T= (p.Ile18=)
c.14T= (p.Phe5=)
17g.1772048C>ACA397586849SERPINF1c.616C>A (p.Leu206Ile)
c.55C>A (p.Leu19Ile)
c.15C>A (p.Phe5Leu)
 COSMIC
17g.1772048C>GCA397586860SERPINF1c.616C>G (p.Leu206Val)
c.55C>G (p.Leu19Val)
c.15C>G (p.Phe5Leu)
17g.1772048C>TCA397586864SERPINF1c.616C>T (p.Leu206Phe)
c.55C>T (p.Leu19Phe)
c.15C>T (p.Phe5=)
 gnomAD v4
17g.1772050_1772052delCA2808198295SERPINF1c.618_620del (p.Leu207del)
c.57_59del (p.Leu20del)
c.17_19del (p.Ser6del)
17g.1772049T>ACA397586868SERPINF1c.617T>A (p.Leu206His)
c.56T>A (p.Leu19His)
c.16T>A (p.Ser6Thr)
17g.1772049T>CCA397586870SERPINF1c.617T>C (p.Leu206Pro)
c.56T>C (p.Leu19Pro)
c.16T>C (p.Ser6Pro)
17g.1772049T>GCA397586873SERPINF1c.617T>G (p.Leu206Arg)
c.56T>G (p.Leu19Arg)
c.16T>G (p.Ser6Ala)
17g.1772050C>ACA397586878SERPINF1c.618C>A (p.Leu206=)
c.57C>A (p.Leu19=)
c.17C>A (p.Ser6Tyr)
17g.1772050C=CA2243026100SERPINF1c.618C= (p.Leu206=)
c.57C= (p.Leu19=)
c.17C= (p.Ser6=)
17g.1772050C>GCA397586877SERPINF1c.618C>G (p.Leu206=)
c.57C>G (p.Leu19=)
c.17C>G (p.Ser6Cys)
17g.1772050C>TCA8274752SERPINF1c.618C>T (p.Leu206=)
c.57C>T (p.Leu19=)
c.17C>T (p.Ser6Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1772050_1772053delinsCCTTCA2243026101SERPINF1c.618_621delinsCCTT (p.Leu206=)
c.57_60delinsCCTT (p.Leu19=)
c.17_20delinsCCTT (p.Ser6=)
17g.1772051C>ACA397586880SERPINF1c.619C>A (p.Leu207Ile)
c.58C>A (p.Leu20Ile)
c.18C>A (p.Ser6=)
17g.1772051C>GCA397586882SERPINF1c.619C>G (p.Leu207Val)
c.58C>G (p.Leu20Val)
c.18C>G (p.Ser6=)
17g.1772051C>TCA397586884SERPINF1c.619C>T (p.Leu207Phe)
c.58C>T (p.Leu20Phe)
c.18C>T (p.Ser6=)
17g.1772053_1772055delCA915949458SERPINF1c.621_623del (p.Leu208del)
c.60_62del (p.Leu21del)
c.20_22del (p.Phe7del)
 ClinVar dbSNP gnomAD v4
17g.1772052T>ACA397586887SERPINF1c.620T>A (p.Leu207His)
c.59T>A (p.Leu20His)
c.19T>A (p.Phe7Ile)
17g.1772052T>CCA397586889SERPINF1c.620T>C (p.Leu207Pro)
c.59T>C (p.Leu20Pro)
c.19T>C (p.Phe7Leu)
 gnomAD v4
17g.1772052T>GCA286846335SERPINF1c.620T>G (p.Leu207Arg)
c.59T>G (p.Leu20Arg)
c.19T>G (p.Phe7Val)
 ClinVar dbSNP
17g.1772052T=CA2243026114SERPINF1c.620T= (p.Leu207=)
c.59T= (p.Leu20=)
c.19T= (p.Phe7=)
17g.1772053T>ACA397586892SERPINF1c.621T>A (p.Leu207=)
c.60T>A (p.Leu20=)
c.20T>A (p.Phe7Tyr)
17g.1772053T>CCA397586894SERPINF1c.621T>C (p.Leu207=)
c.60T>C (p.Leu20=)
c.20T>C (p.Phe7Ser)
 gnomAD v4
17g.1772053T>GCA397586896SERPINF1c.621T>G (p.Leu207=)
c.60T>G (p.Leu20=)
c.20T>G (p.Phe7Cys)
17g.1772054C>ACA397586900SERPINF1c.622C>A (p.Leu208Ile)
c.61C>A (p.Leu21Ile)
c.21C>A (p.Phe7Leu)
17g.1772054C=CA2243026121SERPINF1c.622C= (p.Leu208=)
c.61C= (p.Leu21=)
c.21C= (p.Phe7=)
17g.1772054C>GCA397586902SERPINF1c.622C>G (p.Leu208Val)
c.61C>G (p.Leu21Val)
c.21C>G (p.Phe7Leu)
17g.1772054C>TCA286846357SERPINF1c.622C>T (p.Leu208Phe)
c.61C>T (p.Leu21Phe)
c.21C>T (p.Phe7=)
 dbSNP gnomAD v2 gnomAD v4
17g.1772055T>ACA397586912SERPINF1c.623T>A (p.Leu208His)
c.62T>A (p.Leu21His)
c.22T>A (p.Ser8Thr)
17g.1772055T>CCA397586907SERPINF1c.623T>C (p.Leu208Pro)
c.62T>C (p.Leu21Pro)
c.22T>C (p.Ser8Pro)
17g.1772055T>GCA397586910SERPINF1c.623T>G (p.Leu208Arg)
c.62T>G (p.Leu21Arg)
c.22T>G (p.Ser8Ala)
17g.1772056C>ACA397586916SERPINF1c.624C>A (p.Leu208=)
c.63C>A (p.Leu21=)
c.23C>A (p.Ser8Ter)
17g.1772056C=CA2243026126SERPINF1c.624C= (p.Leu208=)
c.63C= (p.Leu21=)
c.23C= (p.Ser8=)
17g.1772056C>GCA397586918SERPINF1c.624C>G (p.Leu208=)
c.63C>G (p.Leu21=)
c.23C>G (p.Ser8Trp)
17g.1772056C>TCA8274753SERPINF1c.624C>T (p.Leu208=)
c.63C>T (p.Leu21=)
c.23C>T (p.Ser8Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772057G>ACA8274754SERPINF1c.625G>A (p.Gly209Ser)
c.64G>A (p.Gly22Ser)
c.24G>A (p.Ser8=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772057G>CCA397586927SERPINF1c.625G>C (p.Gly209Arg)
c.64G>C (p.Gly22Arg)
c.24G>C (p.Ser8=)
17g.1772057G=CA2243026133SERPINF1c.625G= (p.Gly209=)
c.64G= (p.Gly22=)
c.24G= (p.Ser8=)
17g.1772057G>TCA397586930SERPINF1c.625G>T (p.Gly209Cys)
c.64G>T (p.Gly22Cys)
c.24G>T (p.Ser8=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.1772058G>ACA397586933SERPINF1c.626G>A (p.Gly209Asp)
c.65G>A (p.Gly22Asp)
c.25G>A (p.Val9Met)
17g.1772058G>CCA397586934SERPINF1c.626G>C (p.Gly209Ala)
c.65G>C (p.Gly22Ala)
c.25G>C (p.Val9Leu)
17g.1772058G>TCA397586937SERPINF1c.626G>T (p.Gly209Val)
c.65G>T (p.Gly22Val)
c.25G>T (p.Val9Leu)
17g.1772059T>ACA397586940SERPINF1c.627T>A (p.Gly209=)
c.66T>A (p.Gly22=)
c.26T>A (p.Val9Glu)
17g.1772059T>CCA397586942SERPINF1c.627T>C (p.Gly209=)
c.66T>C (p.Gly22=)
c.26T>C (p.Val9Ala)
 dbSNP
17g.1772059T>GCA397586943SERPINF1c.627T>G (p.Gly209=)
c.66T>G (p.Gly22=)
c.26T>G (p.Val9Gly)
17g.1772059T=CA2243026140SERPINF1c.627T= (p.Gly209=)
c.66T= (p.Gly22=)
c.26T= (p.Val9=)
17g.1772060G>ACA397586949SERPINF1c.628G>A (p.Val210Met)
c.67G>A (p.Val23Met)
c.27G>A (p.Val9=)
17g.1772060G>CCA397586951SERPINF1c.628G>C (p.Val210Leu)
c.67G>C (p.Val23Leu)
c.27G>C (p.Val9=)
17g.1772060G>TCA397586947SERPINF1c.628G>T (p.Val210Leu)
c.67G>T (p.Val23Leu)
c.27G>T (p.Val9=)
17g.1772060dupCA980698236SERPINF1c.628dup (p.Val210GlyfsTer13)
c.67dup (p.Val23GlyfsTer13)
c.27dup (p.Trp10ValfsTer11)
 gnomAD v3 gnomAD v4
17g.1772061delCA980698239SERPINF1c.629del (p.Val210GlyfsTer9)
c.68del (p.Val23GlyfsTer9)
c.28del (p.Trp10GlyfsTer7)
 gnomAD v3 gnomAD v4
17g.1772061T>ACA397586955SERPINF1c.629T>A (p.Val210Glu)
c.68T>A (p.Val23Glu)
c.28T>A (p.Trp10Arg)
 gnomAD v4
17g.1772061T>CCA397586957SERPINF1c.629T>C (p.Val210Ala)
c.68T>C (p.Val23Ala)
c.28T>C (p.Trp10Arg)
17g.1772061T>GCA397586960SERPINF1c.629T>G (p.Val210Gly)
c.68T>G (p.Val23Gly)
c.28T>G (p.Trp10Gly)
17g.1772061_1772062insCCA980698248SERPINF1c.629_630insC (p.Ala211GlyfsTer12)
c.68_69insC (p.Ala24GlyfsTer12)
c.28_29insC (p.Trp10SerfsTer11)
 gnomAD v3 gnomAD v4
17g.1772062G>ACA397586963SERPINF1c.630G>A (p.Val210=)
c.69G>A (p.Val23=)
c.29G>A (p.Trp10Ter)
17g.1772062G>CCA397586965SERPINF1c.630G>C (p.Val210=)
c.69G>C (p.Val23=)
c.29G>C (p.Trp10Ser)
17g.1772062G>TCA397586968SERPINF1c.630G>T (p.Val210=)
c.69G>T (p.Val23=)
c.29G>T (p.Trp10Leu)
17g.1772063G>ACA397586974SERPINF1c.631G>A (p.Ala211Thr)
c.70G>A (p.Ala24Thr)
c.30G>A (p.Trp10Ter)
17g.1772063G>CCA397586971SERPINF1c.631G>C (p.Ala211Pro)
c.70G>C (p.Ala24Pro)
c.30G>C (p.Trp10Cys)
 gnomAD v3 gnomAD v4
17g.1772063G>TCA397586973SERPINF1c.631G>T (p.Ala211Ser)
c.70G>T (p.Ala24Ser)
c.30G>T (p.Trp10Cys)
 gnomAD v3 gnomAD v4
17g.1772064C>ACA397586977SERPINF1c.632C>A (p.Ala211Glu)
c.71C>A (p.Ala24Glu)
c.31C>A (p.Arg11Ser)
17g.1772064C=CA2243026144SERPINF1c.632C= (p.Ala211=)
c.71C= (p.Ala24=)
c.31C= (p.Arg11=)
17g.1772064C>GCA397586978SERPINF1c.632C>G (p.Ala211Gly)
c.71C>G (p.Ala24Gly)
c.31C>G (p.Arg11Gly)
17g.1772064C>TCA8274755SERPINF1c.632C>T (p.Ala211Val)
c.71C>T (p.Ala24Val)
c.31C>T (p.Arg11Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.1772065G>ACA397586979SERPINF1c.633G>A (p.Ala211=)
c.72G>A (p.Ala24=)
c.32G>A (p.Arg11His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.1772065G>CCA286846368SERPINF1c.633G>C (p.Ala211=)
c.72G>C (p.Ala24=)
c.32G>C (p.Arg11Pro)
 dbSNP
17g.1772065G=CA2243026149SERPINF1c.633G= (p.Ala211=)
c.72G= (p.Ala24=)
c.32G= (p.Arg11=)
17g.1772065G>TCA397586981SERPINF1c.633G>T (p.Ala211=)
c.72G>T (p.Ala24=)
c.32G>T (p.Arg11Leu)
17g.1772066C>ACA397586984SERPINF1c.634C>A (p.His212Asn)
c.73C>A (p.His25Asn)
c.33C>A (p.Arg11=)
17g.1772066C>GCA397586988SERPINF1c.634C>G (p.His212Asp)
c.73C>G (p.His25Asp)
c.33C>G (p.Arg11=)
17g.1772066C>TCA397586986SERPINF1c.634C>T (p.His212Tyr)
c.73C>T (p.His25Tyr)
c.33C>T (p.Arg11=)
17g.1772066_1772067insCGTCA980698257SERPINF1c.634_635insCGT (p.His212delinsProTyr)
c.73_74insCGT (p.His25delinsProTyr)
c.33_34insCGT (p.Arg11_Thr12insArg)
 gnomAD v3 gnomAD v4
17g.1772067A=CA2243026151SERPINF1c.635A= (p.His212=)
c.74A= (p.His25=)
c.34A= (p.Thr12=)
17g.1772067A>CCA397586992SERPINF1c.635A>C (p.His212Pro)
c.74A>C (p.His25Pro)
c.34A>C (p.Thr12Pro)
 gnomAD v4
17g.1772067A>GCA397586994SERPINF1c.635A>G (p.His212Arg)
c.74A>G (p.His25Arg)
c.34A>G (p.Thr12Ala)
17g.1772067A>TCA397586996SERPINF1c.635A>T (p.His212Leu)
c.74A>T (p.His25Leu)
c.34A>T (p.Thr12Ser)
 dbSNP
17g.1772067_1772069delinsACTCA2243026154SERPINF1c.635_637delinsACT (p.His212=)
c.74_76delinsACT (p.His25=)
c.34_36delinsACT (p.Thr12=)
17g.1772068C>ACA397586999SERPINF1c.636C>A (p.His212Gln)
c.75C>A (p.His25Gln)
c.35C>A (p.Thr12Asn)
 dbSNP
17g.1772068C=CA2243026163SERPINF1c.636C= (p.His212=)
c.75C= (p.His25=)
c.35C= (p.Thr12=)
17g.1772068C>GCA397587001SERPINF1c.636C>G (p.His212Gln)
c.75C>G (p.His25Gln)
c.35C>G (p.Thr12Ser)
17g.1772068C>TCA397587004SERPINF1c.636C>T (p.His212=)
c.75C>T (p.His25=)
c.35C>T (p.Thr12Ile)
 dbSNP gnomAD v3 gnomAD v4
17g.1772068_1772069delCA980698261SERPINF1c.636_637del (p.Phe213GlnfsTer9)
c.75_76del (p.Phe26GlnfsTer9)
c.35_36del (p.Thr12IlefsTer8)
 dbSNP gnomAD v3 gnomAD v4
17g.1772069T>ACA397587006SERPINF1c.637T>A (p.Phe213Ile)
c.76T>A (p.Phe26Ile)
c.36T>A (p.Thr12=)
 gnomAD v3 gnomAD v4
17g.1772069T>CCA397587014SERPINF1c.637T>C (p.Phe213Leu)
c.76T>C (p.Phe26Leu)
c.36T>C (p.Thr12=)
17g.1772069T>GCA397587015SERPINF1c.637T>G (p.Phe213Val)
c.76T>G (p.Phe26Val)
c.36T>G (p.Thr12=)
17g.1772070T>ACA397587017SERPINF1c.638T>A (p.Phe213Tyr)
c.77T>A (p.Phe26Tyr)
c.37T>A (p.Ser13Thr)
17g.1772070T>CCA397587019SERPINF1c.638T>C (p.Phe213Ser)
c.77T>C (p.Phe26Ser)
c.37T>C (p.Ser13Pro)
17g.1772070T>GCA397587020SERPINF1c.638T>G (p.Phe213Cys)
c.77T>G (p.Phe26Cys)
c.37T>G (p.Ser13Ala)
17g.1772071C>ACA397587021SERPINF1c.639C>A (p.Phe213Leu)
c.78C>A (p.Phe26Leu)
c.38C>A (p.Ser13Ter)
 gnomAD v3 gnomAD v4
17g.1772071C=CA2243026167SERPINF1c.639C= (p.Phe213=)
c.78C= (p.Phe26=)
c.38C= (p.Ser13=)
17g.1772071C>GCA397587027SERPINF1c.639C>G (p.Phe213Leu)
c.78C>G (p.Phe26Leu)
c.38C>G (p.Ser13Ter)
17g.1772071C>TCA8274756SERPINF1c.639C>T (p.Phe213=)
c.78C>T (p.Phe26=)
c.38C>T (p.Ser13Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1772072A>CCA397587032SERPINF1c.640A>C (p.Lys214Gln)
c.79A>C (p.Lys27Gln)
c.39A>C (p.Ser13=)
17g.1772072A>GCA397587035SERPINF1c.640A>G (p.Lys214Glu)
c.79A>G (p.Lys27Glu)
c.39A>G (p.Ser13=)
17g.1772072A>TCA397587038SERPINF1c.640A>T (p.Lys214Ter)
c.79A>T (p.Lys27Ter)
c.39A>T (p.Ser13=)
17g.1772072_1772073insTTAAACA980698263SERPINF1c.640_641insTTAAA (p.Lys214IlefsTer7)
c.79_80insTTAAA (p.Lys27IlefsTer7)
c.39_40insTTAAA (p.Arg14LeufsTer5)
 gnomAD v3 gnomAD v4
17g.1772073A>CCA397587041SERPINF1c.641A>C (p.Lys214Thr)
c.80A>C (p.Lys27Thr)
c.40A>C (p.Arg14=)
17g.1772073A>GCA397587043SERPINF1c.641A>G (p.Lys214Arg)
c.80A>G (p.Lys27Arg)
c.40A>G (p.Arg14Gly)
17g.1772073A>TCA397587046SERPINF1c.641A>T (p.Lys214Met)
c.80A>T (p.Lys27Met)
c.40A>T (p.Arg14Trp)
17g.1772074G>ACA397587048SERPINF1c.642G>A (p.Lys214=)
c.81G>A (p.Lys27=)
c.41G>A (p.Arg14Lys)
 gnomAD v4
17g.1772074G>CCA8274757SERPINF1c.642G>C (p.Lys214Asn)
c.81G>C (p.Lys27Asn)
c.41G>C (p.Arg14Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.1772074G=CA2243026170SERPINF1c.642G= (p.Lys214=)
c.81G= (p.Lys27=)
c.41G= (p.Arg14=)
17g.1772074G>TCA397587054SERPINF1c.642G>T (p.Lys214Asn)
c.81G>T (p.Lys27Asn)
c.41G>T (p.Arg14Met)
17g.1772074_1772078delCA980698274SERPINF1c.642_643+3del
c.81_82+3del
c.41_42+3del
 gnomAD v3 gnomAD v4
17g.1772075G>ACA397587057SERPINF1c.643G>A (p.Gly215Arg)
c.82G>A (p.Gly28Arg)
c.42G>A (p.Arg14=)
17g.1772075G>CCA397587059SERPINF1c.643G>C (p.Gly215Arg)
c.82G>C (p.Gly28Arg)
c.42G>C (p.Arg14Ser)
17g.1772075G=CA2243026175SERPINF1c.643G= (p.Gly215=)
c.82G= (p.Gly28=)
c.42G= (p.Arg14=)
17g.1772075G>TCA286846379SERPINF1c.643G>T (p.Gly215Trp)
c.82G>T (p.Gly28Trp)
c.42G>T (p.Arg14Ser)
 dbSNP COSMIC
17g.1772076G>ACA397587071SERPINF1c.643+1G>A (n.643+1G>A)
c.82+1G>A (n.82+1G>A)
c.42+1G>A (n.42+1G>A)
17g.1772076G>CCA397587065SERPINF1c.643+1G>C (n.643+1G>C)
c.82+1G>C (n.82+1G>C)
c.42+1G>C (n.42+1G>C)
17g.1772076G>TCA397587063SERPINF1c.643+1G>T (n.643+1G>T)
c.82+1G>T (n.82+1G>T)
c.42+1G>T (n.42+1G>T)
 gnomAD v4
17g.1772076_1772077insGCAGTGGGTAACAAAGTTTGACTCCAGAAAGACTTCCCTCGAGGATTTCTACTTGGACA2808198296SERPINF1c.643+1_643+2insGCAGTGGGTAACAAAGTTTGACTCCAGAAAGACTTCCCTCGAGGATTTCTACTTGGA (n.643+1_643+2insGCAGTGGGTAACAAAGTTTGACTCCAGAAAGACTTCCCTCGAGGATTTCTACTTGGA)
c.82+1_82+2insGCAGTGGGTAACAAAGTTTGACTCCAGAAAGACTTCCCTCGAGGATTTCTACTTGGA (n.82+1_82+2insGCAGTGGGTAACAAAGTTTGACTCCAGAAAGACTTCCCTCGAGGATTTCTACTTGGA)
c.42+1_42+2insGCAGTGGGTAACAAAGTTTGACTCCAGAAAGACTTCCCTCGAGGATTTCTACTTGGA (n.42+1_42+2insGCAGTGGGTAACAAAGTTTGACTCCAGAAAGACTTCCCTCGAGGATTTCTACTTGGA)
17g.1772077T>ACA397587075SERPINF1c.643+2T>A (n.643+2T>A)
c.82+2T>A (n.82+2T>A)
c.42+2T>A (n.42+2T>A)
17g.1772077T>CCA397587078SERPINF1c.643+2T>C (n.643+2T>C)
c.82+2T>C (n.82+2T>C)
c.42+2T>C (n.42+2T>C)
17g.1772077T>GCA8274758SERPINF1c.643+2T>G (n.643+2T>G)
c.82+2T>G (n.82+2T>G)
c.42+2T>G (n.42+2T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772077T=CA2243026180SERPINF1c.643+2T= (n.643+2T=)
c.82+2T= (n.82+2T=)
c.42+2T= (n.42+2T=)
17g.1772078G>ACA8274759SERPINF1c.643+3G>A (n.643+3G>A)
c.82+3G>A (n.82+3G>A)
c.42+3G>A (n.42+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772078G=CA2243026182SERPINF1c.643+3G= (n.643+3G=)
c.82+3G= (n.82+3G=)
c.42+3G= (n.42+3G=)
17g.1772078G>TCA2635276346SERPINF1c.643+3G>T (n.643+3G>T)
c.82+3G>T (n.82+3G>T)
c.42+3G>T (n.42+3G>T)
 gnomAD v4
17g.1772079A=CA2243026185SERPINF1c.643+4A= (n.643+4A=)
c.82+4A= (n.82+4A=)
c.42+4A= (n.42+4A=)
17g.1772079A>CCA624565175SERPINF1c.643+4A>C (n.643+4A>C)
c.82+4A>C (n.82+4A>C)
c.42+4A>C (n.42+4A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1772079_1772080insAAAACA2504512353SERPINF1c.643+4_643+5insAAAA (n.643+4_643+5insAAAA)
c.82+4_82+5insAAAA (n.82+4_82+5insAAAA)
c.42+4_42+5insAAAA (n.42+4_42+5insAAAA)
17g.1772080G>ACA980698279SERPINF1c.643+5G>A (n.643+5G>A)
c.82+5G>A (n.82+5G>A)
c.42+5G>A (n.42+5G>A)
 gnomAD v3 gnomAD v4
17g.1772081C=CA2243026192SERPINF1c.643+6C= (n.643+6C=)
c.82+6C= (n.82+6C=)
c.42+6C= (n.42+6C=)
17g.1772081C>TCA8274760SERPINF1c.643+6C>T (n.643+6C>T)
c.82+6C>T (n.82+6C>T)
c.42+6C>T (n.42+6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.1772082G>ACA8274761SERPINF1c.643+7G>A (n.643+7G>A)
c.82+7G>A (n.82+7G>A)
c.42+7G>A (n.42+7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772082G=CA2243026200SERPINF1c.643+7G= (n.643+7G=)
c.82+7G= (n.82+7G=)
c.42+7G= (n.42+7G=)
17g.1772083C>ACA8274763SERPINF1c.643+8C>A (n.643+8C>A)
c.82+8C>A (n.82+8C>A)
c.42+8C>A (n.42+8C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772083C=CA2243026207SERPINF1c.643+8C= (n.643+8C=)
c.82+8C= (n.82+8C=)
c.42+8C= (n.42+8C=)
17g.1772083C>TCA8274762SERPINF1c.643+8C>T (n.643+8C>T)
c.82+8C>T (n.82+8C>T)
c.42+8C>T (n.42+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772084G>ACA8274764SERPINF1c.643+9G>A (n.643+9G>A)
c.82+9G>A (n.82+9G>A)
c.42+9G>A (n.42+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1772084G>CCA624565179SERPINF1c.643+9G>C (n.643+9G>C)
c.82+9G>C (n.82+9G>C)
c.42+9G>C (n.42+9G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1772084G=CA2243026216SERPINF1c.643+9G= (n.643+9G=)
c.82+9G= (n.82+9G=)
c.42+9G= (n.42+9G=)
17g.1772084G>TCA2581285484SERPINF1c.643+9G>T (n.643+9G>T)
c.82+9G>T (n.82+9G>T)
c.42+9G>T (n.42+9G>T)

Number of alleles fetched