Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173908360_173915405delCA2573051419SERPINC1c.42-486_1154-846del
c.42-486_560-867del
c.-272-219_1010-846del
c.42-486_1277-846del
c.123-486_1235-846del
c.42-486_1133-846del
c.42-486_1097-846del
c.42-486_938-846del
 ClinVar
1g.173909622_173910322delCA2573051420SERPINC1c.763-379_1084del
c.559+1543_560-2128del (n.559+1543_560-2128del)
c.619-379_940del
c.885+310_1207del
c.844-379_1165del
c.742-379_1063del
c.762+433_1027del
c.547-379_868del
 ClinVar dbSNP
1g.173909784_173909888delCA2586964406SERPINC1c.817_921del (p.Lys273_Lys307del)
n.468_572del
c.559+1976_559+2080del (n.559+1976_559+2080del)
c.673_777del (p.Lys225_Lys259del)
c.940_1044del (p.Lys314_Lys348del)
c.898_1002del (p.Lys300_Lys334del)
c.796_900del (p.Lys266_Lys300del)
c.763-3_864del
c.601_705del (p.Lys201_Lys235del)
1g.173909852A=CA1207937021SERPINC1c.853T= (p.Tyr285=)
n.504T=
c.559+2012T= (n.559+2012T=)
c.709T= (p.Tyr237=)
c.976T= (p.Tyr326=)
c.934T= (p.Tyr312=)
c.832T= (p.Tyr278=)
c.796T= (p.Tyr266=)
c.637T= (p.Tyr213=)
1g.173909852A>CCA343774528SERPINC1c.853T>G (p.Tyr285Asp)
n.504T>G
c.559+2012T>G (n.559+2012T>G)
c.709T>G (p.Tyr237Asp)
c.976T>G (p.Tyr326Asp)
c.934T>G (p.Tyr312Asp)
c.832T>G (p.Tyr278Asp)
c.796T>G (p.Tyr266Asp)
c.637T>G (p.Tyr213Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.173909852A>GCA343774530SERPINC1c.853T>C (p.Tyr285His)
n.504T>C
c.559+2012T>C (n.559+2012T>C)
c.709T>C (p.Tyr237His)
c.976T>C (p.Tyr326His)
c.934T>C (p.Tyr312His)
c.832T>C (p.Tyr278His)
c.796T>C (p.Tyr266His)
c.637T>C (p.Tyr213His)
1g.173909852A>TCA343774531SERPINC1c.853T>A (p.Tyr285Asn)
n.504T>A
c.559+2012T>A (n.559+2012T>A)
c.709T>A (p.Tyr237Asn)
c.976T>A (p.Tyr326Asn)
c.934T>A (p.Tyr312Asn)
c.832T>A (p.Tyr278Asn)
c.796T>A (p.Tyr266Asn)
c.637T>A (p.Tyr213Asn)
 gnomAD v4
1g.173909852_173909857delinsACATCACA1144233207SERPINC1c.848_853delinsTGATGT (p.Met283=)
n.499_504delinsTGATGT
c.559+2007_559+2012delinsTGATGT (n.559+2007_559+2012delinsTGATGT)
c.704_709delinsTGATGT (p.Met235=)
c.971_976delinsTGATGT (p.Met324=)
c.929_934delinsTGATGT (p.Met310=)
c.827_832delinsTGATGT (p.Met276=)
c.791_796delinsTGATGT (p.Met264=)
c.632_637delinsTGATGT (p.Met211=)
1g.173909853_173909857dupCA150699SERPINC1c.849_853dup (p.Tyr285Ter)
n.500_504dup
c.559+2008_559+2012dup (n.559+2008_559+2012dup)
c.705_709dup (p.Tyr237Ter)
c.972_976dup (p.Tyr326Ter)
c.930_934dup (p.Tyr312Ter)
c.828_832dup (p.Tyr278Ter)
c.792_796dup (p.Tyr266Ter)
c.633_637dup (p.Tyr213Ter)
 ClinVar dbSNP
1g.173909853C>ACA343774534SERPINC1c.852G>T (p.Met284Ile)
n.503G>T
c.559+2011G>T (n.559+2011G>T)
c.708G>T (p.Met236Ile)
c.975G>T (p.Met325Ile)
c.933G>T (p.Met311Ile)
c.831G>T (p.Met277Ile)
c.795G>T (p.Met265Ile)
c.636G>T (p.Met212Ile)
 gnomAD v4
1g.173909853C>GCA343774536SERPINC1c.852G>C (p.Met284Ile)
n.503G>C
c.559+2011G>C (n.559+2011G>C)
c.708G>C (p.Met236Ile)
c.975G>C (p.Met325Ile)
c.933G>C (p.Met311Ile)
c.831G>C (p.Met277Ile)
c.795G>C (p.Met265Ile)
c.636G>C (p.Met212Ile)
1g.173909853C>TCA343774538SERPINC1c.852G>A (p.Met284Ile)
n.503G>A
c.559+2011G>A (n.559+2011G>A)
c.708G>A (p.Met236Ile)
c.975G>A (p.Met325Ile)
c.933G>A (p.Met311Ile)
c.831G>A (p.Met277Ile)
c.795G>A (p.Met265Ile)
c.636G>A (p.Met212Ile)
1g.173909854A=CA1207937022SERPINC1c.851T= (p.Met284=)
n.502T=
c.559+2010T= (n.559+2010T=)
c.707T= (p.Met236=)
c.974T= (p.Met325=)
c.932T= (p.Met311=)
c.830T= (p.Met277=)
c.794T= (p.Met265=)
c.635T= (p.Met212=)
1g.173909854A>CCA343774540SERPINC1c.851T>G (p.Met284Arg)
n.502T>G
c.559+2010T>G (n.559+2010T>G)
c.707T>G (p.Met236Arg)
c.974T>G (p.Met325Arg)
c.932T>G (p.Met311Arg)
c.830T>G (p.Met277Arg)
c.794T>G (p.Met265Arg)
c.635T>G (p.Met212Arg)
 ClinVar dbSNP
1g.173909854A>GCA343774542SERPINC1c.851T>C (p.Met284Thr)
n.502T>C
c.559+2010T>C (n.559+2010T>C)
c.707T>C (p.Met236Thr)
c.974T>C (p.Met325Thr)
c.932T>C (p.Met311Thr)
c.830T>C (p.Met277Thr)
c.794T>C (p.Met265Thr)
c.635T>C (p.Met212Thr)
 ClinVar
1g.173909854A>TCA343774544SERPINC1c.851T>A (p.Met284Lys)
n.502T>A
c.559+2010T>A (n.559+2010T>A)
c.707T>A (p.Met236Lys)
c.974T>A (p.Met325Lys)
c.932T>A (p.Met311Lys)
c.830T>A (p.Met277Lys)
c.794T>A (p.Met265Lys)
c.635T>A (p.Met212Lys)
 ClinVar dbSNP
1g.173909855T>ACA343774547SERPINC1c.850A>T (p.Met284Leu)
n.501A>T
c.559+2009A>T (n.559+2009A>T)
c.706A>T (p.Met236Leu)
c.973A>T (p.Met325Leu)
c.931A>T (p.Met311Leu)
c.829A>T (p.Met277Leu)
c.793A>T (p.Met265Leu)
c.634A>T (p.Met212Leu)
1g.173909855T>CCA343774548SERPINC1c.850A>G (p.Met284Val)
n.501A>G
c.559+2009A>G (n.559+2009A>G)
c.706A>G (p.Met236Val)
c.973A>G (p.Met325Val)
c.931A>G (p.Met311Val)
c.829A>G (p.Met277Val)
c.793A>G (p.Met265Val)
c.634A>G (p.Met212Val)
1g.173909855T>GCA343774546SERPINC1c.850A>C (p.Met284Leu)
n.501A>C
c.559+2009A>C (n.559+2009A>C)
c.706A>C (p.Met236Leu)
c.973A>C (p.Met325Leu)
c.931A>C (p.Met311Leu)
c.829A>C (p.Met277Leu)
c.793A>C (p.Met265Leu)
c.634A>C (p.Met212Leu)
1g.173909856C>ACA343774550SERPINC1c.849G>T (p.Met283Ile)
n.500G>T
c.559+2008G>T (n.559+2008G>T)
c.705G>T (p.Met235Ile)
c.972G>T (p.Met324Ile)
c.930G>T (p.Met310Ile)
c.828G>T (p.Met276Ile)
c.792G>T (p.Met264Ile)
c.633G>T (p.Met211Ile)
 dbSNP gnomAD v4
1g.173909856C>GCA343774552SERPINC1c.849G>C (p.Met283Ile)
n.500G>C
c.559+2008G>C (n.559+2008G>C)
c.705G>C (p.Met235Ile)
c.972G>C (p.Met324Ile)
c.930G>C (p.Met310Ile)
c.828G>C (p.Met276Ile)
c.792G>C (p.Met264Ile)
c.633G>C (p.Met211Ile)
1g.173909856C>TCA343774553SERPINC1c.849G>A (p.Met283Ile)
n.500G>A
c.559+2008G>A (n.559+2008G>A)
c.705G>A (p.Met235Ile)
c.972G>A (p.Met324Ile)
c.930G>A (p.Met310Ile)
c.828G>A (p.Met276Ile)
c.792G>A (p.Met264Ile)
c.633G>A (p.Met211Ile)
1g.173909857A=CA1207937023SERPINC1c.848T= (p.Met283=)
n.499T=
c.559+2007T= (n.559+2007T=)
c.704T= (p.Met235=)
c.971T= (p.Met324=)
c.929T= (p.Met310=)
c.827T= (p.Met276=)
c.791T= (p.Met264=)
c.632T= (p.Met211=)
1g.173909857A>CCA343774554SERPINC1c.848T>G (p.Met283Arg)
n.499T>G
c.559+2007T>G (n.559+2007T>G)
c.704T>G (p.Met235Arg)
c.971T>G (p.Met324Arg)
c.929T>G (p.Met310Arg)
c.827T>G (p.Met276Arg)
c.791T>G (p.Met264Arg)
c.632T>G (p.Met211Arg)
1g.173909857A>GCA343774556SERPINC1c.848T>C (p.Met283Thr)
n.499T>C
c.559+2007T>C (n.559+2007T>C)
c.704T>C (p.Met235Thr)
c.971T>C (p.Met324Thr)
c.929T>C (p.Met310Thr)
c.827T>C (p.Met276Thr)
c.791T>C (p.Met264Thr)
c.632T>C (p.Met211Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909857A>TCA343774558SERPINC1c.848T>A (p.Met283Lys)
n.499T>A
c.559+2007T>A (n.559+2007T>A)
c.704T>A (p.Met235Lys)
c.971T>A (p.Met324Lys)
c.929T>A (p.Met310Lys)
c.827T>A (p.Met276Lys)
c.791T>A (p.Met264Lys)
c.632T>A (p.Met211Lys)
1g.173909858T>ACA343774560SERPINC1c.847A>T (p.Met283Leu)
n.498A>T
c.559+2006A>T (n.559+2006A>T)
c.703A>T (p.Met235Leu)
c.970A>T (p.Met324Leu)
c.928A>T (p.Met310Leu)
c.826A>T (p.Met276Leu)
c.790A>T (p.Met264Leu)
c.631A>T (p.Met211Leu)
1g.173909858T>CCA343774561SERPINC1c.847A>G (p.Met283Val)
n.498A>G
c.559+2006A>G (n.559+2006A>G)
c.703A>G (p.Met235Val)
c.970A>G (p.Met324Val)
c.928A>G (p.Met310Val)
c.826A>G (p.Met276Val)
c.790A>G (p.Met264Val)
c.631A>G (p.Met211Val)
 gnomAD v4
1g.173909858T>GCA343774563SERPINC1c.847A>C (p.Met283Leu)
n.498A>C
c.559+2006A>C (n.559+2006A>C)
c.703A>C (p.Met235Leu)
c.970A>C (p.Met324Leu)
c.928A>C (p.Met310Leu)
c.826A>C (p.Met276Leu)
c.790A>C (p.Met264Leu)
c.631A>C (p.Met211Leu)
1g.173909859A>CCA421942754SERPINC1c.846T>G (p.Ser282=)
n.497T>G
c.559+2005T>G (n.559+2005T>G)
c.702T>G (p.Ser234=)
c.969T>G (p.Ser323=)
c.927T>G (p.Ser309=)
c.825T>G (p.Ser275=)
c.789T>G (p.Ser263=)
c.630T>G (p.Ser210=)
1g.173909859A>GCA421942755SERPINC1c.846T>C (p.Ser282=)
n.497T>C
c.559+2005T>C (n.559+2005T>C)
c.702T>C (p.Ser234=)
c.969T>C (p.Ser323=)
c.927T>C (p.Ser309=)
c.825T>C (p.Ser275=)
c.789T>C (p.Ser263=)
c.630T>C (p.Ser210=)
 gnomAD v4
1g.173909859A>TCA421942756SERPINC1c.846T>A (p.Ser282=)
n.497T>A
c.559+2005T>A (n.559+2005T>A)
c.702T>A (p.Ser234=)
c.969T>A (p.Ser323=)
c.927T>A (p.Ser309=)
c.825T>A (p.Ser275=)
c.789T>A (p.Ser263=)
c.630T>A (p.Ser210=)
 gnomAD v4
1g.173909860G>ACA343774565SERPINC1c.845C>T (p.Ser282Phe)
n.496C>T
c.559+2004C>T (n.559+2004C>T)
c.701C>T (p.Ser234Phe)
c.968C>T (p.Ser323Phe)
c.926C>T (p.Ser309Phe)
c.824C>T (p.Ser275Phe)
c.788C>T (p.Ser263Phe)
c.629C>T (p.Ser210Phe)
1g.173909860G>CCA343774566SERPINC1c.845C>G (p.Ser282Cys)
n.496C>G
c.559+2004C>G (n.559+2004C>G)
c.701C>G (p.Ser234Cys)
c.968C>G (p.Ser323Cys)
c.926C>G (p.Ser309Cys)
c.824C>G (p.Ser275Cys)
c.788C>G (p.Ser263Cys)
c.629C>G (p.Ser210Cys)
1g.173909860G>TCA343774567SERPINC1c.845C>A (p.Ser282Tyr)
n.496C>A
c.559+2004C>A (n.559+2004C>A)
c.701C>A (p.Ser234Tyr)
c.968C>A (p.Ser323Tyr)
c.926C>A (p.Ser309Tyr)
c.824C>A (p.Ser275Tyr)
c.788C>A (p.Ser263Tyr)
c.629C>A (p.Ser210Tyr)
1g.173909860_173909862delinsGATCA1207937024SERPINC1c.843_845delinsATC (p.Ala281=)
n.494_496delinsATC
c.559+2002_559+2004delinsATC (n.559+2002_559+2004delinsATC)
c.699_701delinsATC (p.Ala233=)
c.966_968delinsATC (p.Ala322=)
c.924_926delinsATC (p.Ala308=)
c.822_824delinsATC (p.Ala274=)
c.786_788delinsATC (p.Ala262=)
c.627_629delinsATC (p.Ala209=)
1g.173909861A>CCA343774571SERPINC1c.844T>G (p.Ser282Ala)
n.495T>G
c.559+2003T>G (n.559+2003T>G)
c.700T>G (p.Ser234Ala)
c.967T>G (p.Ser323Ala)
c.925T>G (p.Ser309Ala)
c.823T>G (p.Ser275Ala)
c.787T>G (p.Ser263Ala)
c.628T>G (p.Ser210Ala)
1g.173909861A>GCA343774573SERPINC1c.844T>C (p.Ser282Pro)
n.495T>C
c.559+2003T>C (n.559+2003T>C)
c.700T>C (p.Ser234Pro)
c.967T>C (p.Ser323Pro)
c.925T>C (p.Ser309Pro)
c.823T>C (p.Ser275Pro)
c.787T>C (p.Ser263Pro)
c.628T>C (p.Ser210Pro)
 gnomAD v4
1g.173909861A>TCA343774569SERPINC1c.844T>A (p.Ser282Thr)
n.495T>A
c.559+2003T>A (n.559+2003T>A)
c.700T>A (p.Ser234Thr)
c.967T>A (p.Ser323Thr)
c.925T>A (p.Ser309Thr)
c.823T>A (p.Ser275Thr)
c.787T>A (p.Ser263Thr)
c.628T>A (p.Ser210Thr)
 gnomAD v4
1g.173909861_173909862delCA916341715SERPINC1c.843_844del (p.Ser282TyrfsTer15)
n.494_495del
c.559+2002_559+2003del (n.559+2002_559+2003del)
c.699_700del (p.Ser234TyrfsTer15)
c.966_967del (p.Ser323TyrfsTer15)
c.924_925del (p.Ser309TyrfsTer15)
c.822_823del (p.Ser275TyrfsTer15)
c.786_787del (p.Ser263TyrfsTer15)
c.627_628del (p.Ser210TyrfsTer15)
 dbSNP
1g.173909862T>ACA421942757SERPINC1c.843A>T (p.Ala281=)
n.494A>T
c.559+2002A>T (n.559+2002A>T)
c.699A>T (p.Ala233=)
c.966A>T (p.Ala322=)
c.924A>T (p.Ala308=)
c.822A>T (p.Ala274=)
c.786A>T (p.Ala262=)
c.627A>T (p.Ala209=)
1g.173909862T>CCA421942758SERPINC1c.843A>G (p.Ala281=)
n.494A>G
c.559+2002A>G (n.559+2002A>G)
c.699A>G (p.Ala233=)
c.966A>G (p.Ala322=)
c.924A>G (p.Ala308=)
c.822A>G (p.Ala274=)
c.786A>G (p.Ala262=)
c.627A>G (p.Ala209=)
1g.173909862T>GCA421942759SERPINC1c.843A>C (p.Ala281=)
n.494A>C
c.559+2002A>C (n.559+2002A>C)
c.699A>C (p.Ala233=)
c.966A>C (p.Ala322=)
c.924A>C (p.Ala308=)
c.822A>C (p.Ala274=)
c.786A>C (p.Ala262=)
c.627A>C (p.Ala209=)
1g.173909863G>ACA343774574SERPINC1c.842C>T (p.Ala281Val)
n.493C>T
c.559+2001C>T (n.559+2001C>T)
c.698C>T (p.Ala233Val)
c.965C>T (p.Ala322Val)
c.923C>T (p.Ala308Val)
c.821C>T (p.Ala274Val)
c.785C>T (p.Ala262Val)
c.626C>T (p.Ala209Val)
 dbSNP gnomAD v2 gnomAD v4
1g.173909863G>CCA343774576SERPINC1c.842C>G (p.Ala281Gly)
n.493C>G
c.559+2001C>G (n.559+2001C>G)
c.698C>G (p.Ala233Gly)
c.965C>G (p.Ala322Gly)
c.923C>G (p.Ala308Gly)
c.821C>G (p.Ala274Gly)
c.785C>G (p.Ala262Gly)
c.626C>G (p.Ala209Gly)
1g.173909863G=CA1207937025SERPINC1c.842C= (p.Ala281=)
n.493C=
c.559+2001C= (n.559+2001C=)
c.698C= (p.Ala233=)
c.965C= (p.Ala322=)
c.923C= (p.Ala308=)
c.821C= (p.Ala274=)
c.785C= (p.Ala262=)
c.626C= (p.Ala209=)
1g.173909863G>TCA343774578SERPINC1c.842C>A (p.Ala281Glu)
n.493C>A
c.559+2001C>A (n.559+2001C>A)
c.698C>A (p.Ala233Glu)
c.965C>A (p.Ala322Glu)
c.923C>A (p.Ala308Glu)
c.821C>A (p.Ala274Glu)
c.785C>A (p.Ala262Glu)
c.626C>A (p.Ala209Glu)
1g.173909864C>ACA343774580SERPINC1c.841G>T (p.Ala281Ser)
n.492G>T
c.559+2000G>T (n.559+2000G>T)
c.697G>T (p.Ala233Ser)
c.964G>T (p.Ala322Ser)
c.922G>T (p.Ala308Ser)
c.820G>T (p.Ala274Ser)
c.784G>T (p.Ala262Ser)
c.625G>T (p.Ala209Ser)
1g.173909864C>GCA343774582SERPINC1c.841G>C (p.Ala281Pro)
n.492G>C
c.559+2000G>C (n.559+2000G>C)
c.697G>C (p.Ala233Pro)
c.964G>C (p.Ala322Pro)
c.922G>C (p.Ala308Pro)
c.820G>C (p.Ala274Pro)
c.784G>C (p.Ala262Pro)
c.625G>C (p.Ala209Pro)
 gnomAD v4
1g.173909864C>TCA343774584SERPINC1c.841G>A (p.Ala281Thr)
n.492G>A
c.559+2000G>A (n.559+2000G>A)
c.697G>A (p.Ala233Thr)
c.964G>A (p.Ala322Thr)
c.922G>A (p.Ala308Thr)
c.820G>A (p.Ala274Thr)
c.784G>A (p.Ala262Thr)
c.625G>A (p.Ala209Thr)
 gnomAD v4
1g.173909864_173909865insACCA916341717SERPINC1c.841_842insTG (p.Ala281ValfsTer4)
n.492_493insTG
c.559+2000_559+2001insTG (n.559+2000_559+2001insTG)
c.697_698insTG (p.Ala233ValfsTer4)
c.964_965insTG (p.Ala322ValfsTer4)
c.922_923insTG (p.Ala308ValfsTer4)
c.820_821insTG (p.Ala274ValfsTer4)
c.784_785insTG (p.Ala262ValfsTer4)
c.625_626insTG (p.Ala209ValfsTer4)
 dbSNP
1g.173909865delCA2582342983SERPINC1c.840del (p.Ala281HisfsTer3)
n.491del
c.559+1999del (n.559+1999del)
c.696del (p.Ala233HisfsTer3)
c.963del (p.Ala322HisfsTer3)
c.921del (p.Ala308HisfsTer3)
c.819del (p.Ala274HisfsTer3)
c.783del (p.Ala262HisfsTer3)
c.624del (p.Ala209HisfsTer3)
1g.173909865T>ACA421942760SERPINC1c.840A>T (p.Ser280=)
n.491A>T
c.559+1999A>T (n.559+1999A>T)
c.696A>T (p.Ser232=)
c.963A>T (p.Ser321=)
c.921A>T (p.Ser307=)
c.819A>T (p.Ser273=)
c.783A>T (p.Ser261=)
c.624A>T (p.Ser208=)
1g.173909865T>CCA421942761SERPINC1c.840A>G (p.Ser280=)
n.491A>G
c.559+1999A>G (n.559+1999A>G)
c.696A>G (p.Ser232=)
c.963A>G (p.Ser321=)
c.921A>G (p.Ser307=)
c.819A>G (p.Ser273=)
c.783A>G (p.Ser261=)
c.624A>G (p.Ser208=)
 dbSNP
1g.173909865T>GCA421942762SERPINC1c.840A>C (p.Ser280=)
n.491A>C
c.559+1999A>C (n.559+1999A>C)
c.696A>C (p.Ser232=)
c.963A>C (p.Ser321=)
c.921A>C (p.Ser307=)
c.819A>C (p.Ser273=)
c.783A>C (p.Ser261=)
c.624A>C (p.Ser208=)
1g.173909866G>ACA343774586SERPINC1c.839C>T (p.Ser280Leu)
n.490C>T
c.559+1998C>T (n.559+1998C>T)
c.695C>T (p.Ser232Leu)
c.962C>T (p.Ser321Leu)
c.920C>T (p.Ser307Leu)
c.818C>T (p.Ser273Leu)
c.782C>T (p.Ser261Leu)
c.623C>T (p.Ser208Leu)
1g.173909866G>CCA343774589SERPINC1c.839C>G (p.Ser280Ter)
n.490C>G
c.559+1998C>G (n.559+1998C>G)
c.695C>G (p.Ser232Ter)
c.962C>G (p.Ser321Ter)
c.920C>G (p.Ser307Ter)
c.818C>G (p.Ser273Ter)
c.782C>G (p.Ser261Ter)
c.623C>G (p.Ser208Ter)
 dbSNP
1g.173909866G>TCA343774587SERPINC1c.839C>A (p.Ser280Ter)
n.490C>A
c.559+1998C>A (n.559+1998C>A)
c.695C>A (p.Ser232Ter)
c.962C>A (p.Ser321Ter)
c.920C>A (p.Ser307Ter)
c.818C>A (p.Ser273Ter)
c.782C>A (p.Ser261Ter)
c.623C>A (p.Ser208Ter)
 gnomAD v4
1g.173909867A=CA1207937026SERPINC1c.838T= (p.Ser280=)
n.489T=
c.559+1997T= (n.559+1997T=)
c.694T= (p.Ser232=)
c.961T= (p.Ser321=)
c.919T= (p.Ser307=)
c.817T= (p.Ser273=)
c.781T= (p.Ser261=)
c.622T= (p.Ser208=)
1g.173909867A>CCA343774591SERPINC1c.838T>G (p.Ser280Ala)
n.489T>G
c.559+1997T>G (n.559+1997T>G)
c.694T>G (p.Ser232Ala)
c.961T>G (p.Ser321Ala)
c.919T>G (p.Ser307Ala)
c.817T>G (p.Ser273Ala)
c.781T>G (p.Ser261Ala)
c.622T>G (p.Ser208Ala)
1g.173909867A>GCA343774592SERPINC1c.838T>C (p.Ser280Pro)
n.489T>C
c.559+1997T>C (n.559+1997T>C)
c.694T>C (p.Ser232Pro)
c.961T>C (p.Ser321Pro)
c.919T>C (p.Ser307Pro)
c.817T>C (p.Ser273Pro)
c.781T>C (p.Ser261Pro)
c.622T>C (p.Ser208Pro)
 dbSNP
1g.173909867A>TCA343774594SERPINC1c.838T>A (p.Ser280Thr)
n.489T>A
c.559+1997T>A (n.559+1997T>A)
c.694T>A (p.Ser232Thr)
c.961T>A (p.Ser321Thr)
c.919T>A (p.Ser307Thr)
c.817T>A (p.Ser273Thr)
c.781T>A (p.Ser261Thr)
c.622T>A (p.Ser208Thr)
1g.173909868A=CA1207937027SERPINC1c.837T= (p.Cys279=)
n.488T=
c.559+1996T= (n.559+1996T=)
c.693T= (p.Cys231=)
c.960T= (p.Cys320=)
c.918T= (p.Cys306=)
c.816T= (p.Cys272=)
c.780T= (p.Cys260=)
c.621T= (p.Cys207=)
1g.173909868A>CCA343774596SERPINC1c.837T>G (p.Cys279Trp)
n.488T>G
c.559+1996T>G (n.559+1996T>G)
c.693T>G (p.Cys231Trp)
c.960T>G (p.Cys320Trp)
c.918T>G (p.Cys306Trp)
c.816T>G (p.Cys272Trp)
c.780T>G (p.Cys260Trp)
c.621T>G (p.Cys207Trp)
 dbSNP
1g.173909868A>GCA421942763SERPINC1c.837T>C (p.Cys279=)
n.488T>C
c.559+1996T>C (n.559+1996T>C)
c.693T>C (p.Cys231=)
c.960T>C (p.Cys320=)
c.918T>C (p.Cys306=)
c.816T>C (p.Cys272=)
c.780T>C (p.Cys260=)
c.621T>C (p.Cys207=)
 dbSNP
1g.173909868A>TCA343774597SERPINC1c.837T>A (p.Cys279Ter)
n.488T>A
c.559+1996T>A (n.559+1996T>A)
c.693T>A (p.Cys231Ter)
c.960T>A (p.Cys320Ter)
c.918T>A (p.Cys306Ter)
c.816T>A (p.Cys272Ter)
c.780T>A (p.Cys260Ter)
c.621T>A (p.Cys207Ter)
1g.173909869C>ACA343774602SERPINC1c.836G>T (p.Cys279Phe)
n.487G>T
c.559+1995G>T (n.559+1995G>T)
c.692G>T (p.Cys231Phe)
c.959G>T (p.Cys320Phe)
c.917G>T (p.Cys306Phe)
c.815G>T (p.Cys272Phe)
c.779G>T (p.Cys260Phe)
c.620G>T (p.Cys207Phe)
1g.173909869C>GCA343774601SERPINC1c.836G>C (p.Cys279Ser)
n.487G>C
c.559+1995G>C (n.559+1995G>C)
c.692G>C (p.Cys231Ser)
c.959G>C (p.Cys320Ser)
c.917G>C (p.Cys306Ser)
c.815G>C (p.Cys272Ser)
c.779G>C (p.Cys260Ser)
c.620G>C (p.Cys207Ser)
1g.173909869C>TCA343774599SERPINC1c.836G>A (p.Cys279Tyr)
n.487G>A
c.559+1995G>A (n.559+1995G>A)
c.692G>A (p.Cys231Tyr)
c.959G>A (p.Cys320Tyr)
c.917G>A (p.Cys306Tyr)
c.815G>A (p.Cys272Tyr)
c.779G>A (p.Cys260Tyr)
c.620G>A (p.Cys207Tyr)
1g.173909870A>CCA343774607SERPINC1c.835T>G (p.Cys279Gly)
n.486T>G
c.559+1994T>G (n.559+1994T>G)
c.691T>G (p.Cys231Gly)
c.958T>G (p.Cys320Gly)
c.916T>G (p.Cys306Gly)
c.814T>G (p.Cys272Gly)
c.778T>G (p.Cys260Gly)
c.619T>G (p.Cys207Gly)
1g.173909870A>GCA343774606SERPINC1c.835T>C (p.Cys279Arg)
n.486T>C
c.559+1994T>C (n.559+1994T>C)
c.691T>C (p.Cys231Arg)
c.958T>C (p.Cys320Arg)
c.916T>C (p.Cys306Arg)
c.814T>C (p.Cys272Arg)
c.778T>C (p.Cys260Arg)
c.619T>C (p.Cys207Arg)
1g.173909870A>TCA343774608SERPINC1c.835T>A (p.Cys279Ser)
n.486T>A
c.559+1994T>A (n.559+1994T>A)
c.691T>A (p.Cys231Ser)
c.958T>A (p.Cys320Ser)
c.916T>A (p.Cys306Ser)
c.814T>A (p.Cys272Ser)
c.778T>A (p.Cys260Ser)
c.619T>A (p.Cys207Ser)
1g.173909871C>ACA1251328SERPINC1c.834G>T (p.Ser278=)
n.485G>T
c.559+1993G>T (n.559+1993G>T)
c.690G>T (p.Ser230=)
c.957G>T (p.Ser319=)
c.915G>T (p.Ser305=)
c.813G>T (p.Ser271=)
c.777G>T (p.Ser259=)
c.618G>T (p.Ser206=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909871C=CA1207937028SERPINC1c.834G= (p.Ser278=)
n.485G=
c.559+1993G= (n.559+1993G=)
c.690G= (p.Ser230=)
c.957G= (p.Ser319=)
c.915G= (p.Ser305=)
c.813G= (p.Ser271=)
c.777G= (p.Ser259=)
c.618G= (p.Ser206=)
1g.173909871C>GCA421942764SERPINC1c.834G>C (p.Ser278=)
n.485G>C
c.559+1993G>C (n.559+1993G>C)
c.690G>C (p.Ser230=)
c.957G>C (p.Ser319=)
c.915G>C (p.Ser305=)
c.813G>C (p.Ser271=)
c.777G>C (p.Ser259=)
c.618G>C (p.Ser206=)
1g.173909871C>TCA1251329SERPINC1c.834G>A (p.Ser278=)
n.485G>A
c.559+1993G>A (n.559+1993G>A)
c.690G>A (p.Ser230=)
c.957G>A (p.Ser319=)
c.915G>A (p.Ser305=)
c.813G>A (p.Ser271=)
c.777G>A (p.Ser259=)
c.618G>A (p.Ser206=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909872G>ACA1251330SERPINC1c.833C>T (p.Ser278Leu)
n.484C>T
c.559+1992C>T (n.559+1992C>T)
c.689C>T (p.Ser230Leu)
c.956C>T (p.Ser319Leu)
c.914C>T (p.Ser305Leu)
c.812C>T (p.Ser271Leu)
c.776C>T (p.Ser259Leu)
c.617C>T (p.Ser206Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909872G>CCA343774612SERPINC1c.833C>G (p.Ser278Trp)
n.484C>G
c.559+1992C>G (n.559+1992C>G)
c.689C>G (p.Ser230Trp)
c.956C>G (p.Ser319Trp)
c.914C>G (p.Ser305Trp)
c.812C>G (p.Ser271Trp)
c.776C>G (p.Ser259Trp)
c.617C>G (p.Ser206Trp)
1g.173909872G=CA1207937029SERPINC1c.833C= (p.Ser278=)
n.484C=
c.559+1992C= (n.559+1992C=)
c.689C= (p.Ser230=)
c.956C= (p.Ser319=)
c.914C= (p.Ser305=)
c.812C= (p.Ser271=)
c.776C= (p.Ser259=)
c.617C= (p.Ser206=)
1g.173909872G>TCA343774614SERPINC1c.833C>A (p.Ser278Ter)
n.484C>A
c.559+1992C>A (n.559+1992C>A)
c.689C>A (p.Ser230Ter)
c.956C>A (p.Ser319Ter)
c.914C>A (p.Ser305Ter)
c.812C>A (p.Ser271Ter)
c.776C>A (p.Ser259Ter)
c.617C>A (p.Ser206Ter)
1g.173909873A>CCA343774616SERPINC1c.832T>G (p.Ser278Ala)
n.483T>G
c.559+1991T>G (n.559+1991T>G)
c.688T>G (p.Ser230Ala)
c.955T>G (p.Ser319Ala)
c.913T>G (p.Ser305Ala)
c.811T>G (p.Ser271Ala)
c.775T>G (p.Ser259Ala)
c.616T>G (p.Ser206Ala)
1g.173909873A>GCA343774618SERPINC1c.832T>C (p.Ser278Pro)
n.483T>C
c.559+1991T>C (n.559+1991T>C)
c.688T>C (p.Ser230Pro)
c.955T>C (p.Ser319Pro)
c.913T>C (p.Ser305Pro)
c.811T>C (p.Ser271Pro)
c.775T>C (p.Ser259Pro)
c.616T>C (p.Ser206Pro)
1g.173909873A>TCA343774619SERPINC1c.832T>A (p.Ser278Thr)
n.483T>A
c.559+1991T>A (n.559+1991T>A)
c.688T>A (p.Ser230Thr)
c.955T>A (p.Ser319Thr)
c.913T>A (p.Ser305Thr)
c.811T>A (p.Ser271Thr)
c.775T>A (p.Ser259Thr)
c.616T>A (p.Ser206Thr)
1g.173909873_173909875delinsACTCA1207937030SERPINC1c.830_832delinsAGT (p.Glu277=)
n.481_483delinsAGT
c.559+1989_559+1991delinsAGT (n.559+1989_559+1991delinsAGT)
c.686_688delinsAGT (p.Glu229=)
c.953_955delinsAGT (p.Glu318=)
c.911_913delinsAGT (p.Glu304=)
c.809_811delinsAGT (p.Glu270=)
c.773_775delinsAGT (p.Glu258=)
c.614_616delinsAGT (p.Glu205=)
1g.173909874C>ACA343774621SERPINC1c.831G>T (p.Glu277Asp)
n.482G>T
c.559+1990G>T (n.559+1990G>T)
c.687G>T (p.Glu229Asp)
c.954G>T (p.Glu318Asp)
c.912G>T (p.Glu304Asp)
c.810G>T (p.Glu270Asp)
c.774G>T (p.Glu258Asp)
c.615G>T (p.Glu205Asp)
1g.173909874C>GCA343774622SERPINC1c.831G>C (p.Glu277Asp)
n.482G>C
c.559+1990G>C (n.559+1990G>C)
c.687G>C (p.Glu229Asp)
c.954G>C (p.Glu318Asp)
c.912G>C (p.Glu304Asp)
c.810G>C (p.Glu270Asp)
c.774G>C (p.Glu258Asp)
c.615G>C (p.Glu205Asp)
1g.173909874C>TCA421942765SERPINC1c.831G>A (p.Glu277=)
n.482G>A
c.559+1990G>A (n.559+1990G>A)
c.687G>A (p.Glu229=)
c.954G>A (p.Glu318=)
c.912G>A (p.Glu304=)
c.810G>A (p.Glu270=)
c.774G>A (p.Glu258=)
c.615G>A (p.Glu205=)
1g.173909874_173909875delinsCTCA1207937031SERPINC1c.830_831delinsAG (p.Glu277=)
n.481_482delinsAG
c.559+1989_559+1990delinsAG (n.559+1989_559+1990delinsAG)
c.686_687delinsAG (p.Glu229=)
c.953_954delinsAG (p.Glu318=)
c.911_912delinsAG (p.Glu304=)
c.809_810delinsAG (p.Glu270=)
c.773_774delinsAG (p.Glu258=)
c.614_615delinsAG (p.Glu205=)
1g.173909877_173909878delCA1139771046SERPINC1c.830_831del (p.Glu277ValfsTer20)
n.481_482del
c.559+1989_559+1990del (n.559+1989_559+1990del)
c.686_687del (p.Glu229ValfsTer20)
c.953_954del (p.Glu318ValfsTer20)
c.911_912del (p.Glu304ValfsTer20)
c.809_810del (p.Glu270ValfsTer20)
c.773_774del (p.Glu258ValfsTer20)
c.614_615del (p.Glu205ValfsTer20)
 ClinVar dbSNP
1g.173909875delCA915943669SERPINC1c.830del (p.Glu277GlyfsTer7)
n.481del
c.559+1989del (n.559+1989del)
c.686del (p.Glu229GlyfsTer7)
c.953del (p.Glu318GlyfsTer7)
c.911del (p.Glu304GlyfsTer7)
c.809del (p.Glu270GlyfsTer7)
c.773del (p.Glu258GlyfsTer7)
c.614del (p.Glu205GlyfsTer7)
 ClinVar dbSNP
1g.173909875T>ACA343774624SERPINC1c.830A>T (p.Glu277Val)
n.481A>T
c.559+1989A>T (n.559+1989A>T)
c.686A>T (p.Glu229Val)
c.953A>T (p.Glu318Val)
c.911A>T (p.Glu304Val)
c.809A>T (p.Glu270Val)
c.773A>T (p.Glu258Val)
c.614A>T (p.Glu205Val)
1g.173909875T>CCA343774626SERPINC1c.830A>G (p.Glu277Gly)
n.481A>G
c.559+1989A>G (n.559+1989A>G)
c.686A>G (p.Glu229Gly)
c.953A>G (p.Glu318Gly)
c.911A>G (p.Glu304Gly)
c.809A>G (p.Glu270Gly)
c.773A>G (p.Glu258Gly)
c.614A>G (p.Glu205Gly)
1g.173909875T>GCA343774627SERPINC1c.830A>C (p.Glu277Ala)
n.481A>C
c.559+1989A>C (n.559+1989A>C)
c.686A>C (p.Glu229Ala)
c.953A>C (p.Glu318Ala)
c.911A>C (p.Glu304Ala)
c.809A>C (p.Glu270Ala)
c.773A>C (p.Glu258Ala)
c.614A>C (p.Glu205Ala)
1g.173909876C>ACA343774633SERPINC1c.829G>T (p.Glu277Ter)
n.480G>T
c.559+1988G>T (n.559+1988G>T)
c.685G>T (p.Glu229Ter)
c.952G>T (p.Glu318Ter)
c.910G>T (p.Glu304Ter)
c.808G>T (p.Glu270Ter)
c.772G>T (p.Glu258Ter)
c.613G>T (p.Glu205Ter)
1g.173909876C=CA1207937032SERPINC1c.829G= (p.Glu277=)
n.480G=
c.559+1988G= (n.559+1988G=)
c.685G= (p.Glu229=)
c.952G= (p.Glu318=)
c.910G= (p.Glu304=)
c.808G= (p.Glu270=)
c.772G= (p.Glu258=)
c.613G= (p.Glu205=)
1g.173909876C>GCA343774630SERPINC1c.829G>C (p.Glu277Gln)
n.480G>C
c.559+1988G>C (n.559+1988G>C)
c.685G>C (p.Glu229Gln)
c.952G>C (p.Glu318Gln)
c.910G>C (p.Glu304Gln)
c.808G>C (p.Glu270Gln)
c.772G>C (p.Glu258Gln)
c.613G>C (p.Glu205Gln)
 dbSNP
1g.173909876C>TCA343774632SERPINC1c.829G>A (p.Glu277Lys)
n.480G>A
c.559+1988G>A (n.559+1988G>A)
c.685G>A (p.Glu229Lys)
c.952G>A (p.Glu318Lys)
c.910G>A (p.Glu304Lys)
c.808G>A (p.Glu270Lys)
c.772G>A (p.Glu258Lys)
c.613G>A (p.Glu205Lys)
1g.173909877T>ACA421942766SERPINC1c.828A>T (p.Gly276=)
n.479A>T
c.559+1987A>T (n.559+1987A>T)
c.684A>T (p.Gly228=)
c.951A>T (p.Gly317=)
c.909A>T (p.Gly303=)
c.807A>T (p.Gly269=)
c.771A>T (p.Gly257=)
c.612A>T (p.Gly204=)
1g.173909877T>CCA421942767SERPINC1c.828A>G (p.Gly276=)
n.479A>G
c.559+1987A>G (n.559+1987A>G)
c.684A>G (p.Gly228=)
c.951A>G (p.Gly317=)
c.909A>G (p.Gly303=)
c.807A>G (p.Gly269=)
c.771A>G (p.Gly257=)
c.612A>G (p.Gly204=)
 dbSNP gnomAD v3 gnomAD v4
1g.173909877T>GCA421942768SERPINC1c.828A>C (p.Gly276=)
n.479A>C
c.559+1987A>C (n.559+1987A>C)
c.684A>C (p.Gly228=)
c.951A>C (p.Gly317=)
c.909A>C (p.Gly303=)
c.807A>C (p.Gly269=)
c.771A>C (p.Gly257=)
c.612A>C (p.Gly204=)
 dbSNP
1g.173909877T=CA1207937033SERPINC1c.828A= (p.Gly276=)
n.479A=
c.559+1987A= (n.559+1987A=)
c.684A= (p.Gly228=)
c.951A= (p.Gly317=)
c.909A= (p.Gly303=)
c.807A= (p.Gly269=)
c.771A= (p.Gly257=)
c.612A= (p.Gly204=)
1g.173909878C>ACA343774636SERPINC1c.827G>T (p.Gly276Val)
n.478G>T
c.559+1986G>T (n.559+1986G>T)
c.683G>T (p.Gly228Val)
c.950G>T (p.Gly317Val)
c.908G>T (p.Gly303Val)
c.806G>T (p.Gly269Val)
c.770G>T (p.Gly257Val)
c.611G>T (p.Gly204Val)
1g.173909878C>GCA343774637SERPINC1c.827G>C (p.Gly276Ala)
n.478G>C
c.559+1986G>C (n.559+1986G>C)
c.683G>C (p.Gly228Ala)
c.950G>C (p.Gly317Ala)
c.908G>C (p.Gly303Ala)
c.806G>C (p.Gly269Ala)
c.770G>C (p.Gly257Ala)
c.611G>C (p.Gly204Ala)
 COSMIC
1g.173909878C>TCA343774639SERPINC1c.827G>A (p.Gly276Glu)
n.478G>A
c.559+1986G>A (n.559+1986G>A)
c.683G>A (p.Gly228Glu)
c.950G>A (p.Gly317Glu)
c.908G>A (p.Gly303Glu)
c.806G>A (p.Gly269Glu)
c.770G>A (p.Gly257Glu)
c.611G>A (p.Gly204Glu)
1g.173909879C>ACA343774641SERPINC1c.826G>T (p.Gly276Ter)
n.477G>T
c.559+1985G>T (n.559+1985G>T)
c.682G>T (p.Gly228Ter)
c.949G>T (p.Gly317Ter)
c.907G>T (p.Gly303Ter)
c.805G>T (p.Gly269Ter)
c.769G>T (p.Gly257Ter)
c.610G>T (p.Gly204Ter)
1g.173909879C>GCA343774643SERPINC1c.826G>C (p.Gly276Arg)
n.477G>C
c.559+1985G>C (n.559+1985G>C)
c.682G>C (p.Gly228Arg)
c.949G>C (p.Gly317Arg)
c.907G>C (p.Gly303Arg)
c.805G>C (p.Gly269Arg)
c.769G>C (p.Gly257Arg)
c.610G>C (p.Gly204Arg)
1g.173909879C>TCA343774644SERPINC1c.826G>A (p.Gly276Arg)
n.477G>A
c.559+1985G>A (n.559+1985G>A)
c.682G>A (p.Gly228Arg)
c.949G>A (p.Gly317Arg)
c.907G>A (p.Gly303Arg)
c.805G>A (p.Gly269Arg)
c.769G>A (p.Gly257Arg)
c.610G>A (p.Gly204Arg)
1g.173909880A>CCA343774646SERPINC1c.825T>G (p.Asp275Glu)
n.476T>G
c.559+1984T>G (n.559+1984T>G)
c.681T>G (p.Asp227Glu)
c.948T>G (p.Asp316Glu)
c.906T>G (p.Asp302Glu)
c.804T>G (p.Asp268Glu)
c.768T>G (p.Asp256Glu)
c.609T>G (p.Asp203Glu)
1g.173909880A>GCA421942769SERPINC1c.825T>C (p.Asp275=)
n.476T>C
c.559+1984T>C (n.559+1984T>C)
c.681T>C (p.Asp227=)
c.948T>C (p.Asp316=)
c.906T>C (p.Asp302=)
c.804T>C (p.Asp268=)
c.768T>C (p.Asp256=)
c.609T>C (p.Asp203=)
1g.173909880A>TCA343774648SERPINC1c.825T>A (p.Asp275Glu)
n.476T>A
c.559+1984T>A (n.559+1984T>A)
c.681T>A (p.Asp227Glu)
c.948T>A (p.Asp316Glu)
c.906T>A (p.Asp302Glu)
c.804T>A (p.Asp268Glu)
c.768T>A (p.Asp256Glu)
c.609T>A (p.Asp203Glu)
1g.173909881T>ACA343774650SERPINC1c.824A>T (p.Asp275Val)
n.475A>T
c.559+1983A>T (n.559+1983A>T)
c.680A>T (p.Asp227Val)
c.947A>T (p.Asp316Val)
c.905A>T (p.Asp302Val)
c.803A>T (p.Asp268Val)
c.767A>T (p.Asp256Val)
c.608A>T (p.Asp203Val)
1g.173909881T>CCA343774652SERPINC1c.824A>G (p.Asp275Gly)
n.475A>G
c.559+1983A>G (n.559+1983A>G)
c.680A>G (p.Asp227Gly)
c.947A>G (p.Asp316Gly)
c.905A>G (p.Asp302Gly)
c.803A>G (p.Asp268Gly)
c.767A>G (p.Asp256Gly)
c.608A>G (p.Asp203Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.173909881T>GCA343774653SERPINC1c.824A>C (p.Asp275Ala)
n.475A>C
c.559+1983A>C (n.559+1983A>C)
c.680A>C (p.Asp227Ala)
c.947A>C (p.Asp316Ala)
c.905A>C (p.Asp302Ala)
c.803A>C (p.Asp268Ala)
c.767A>C (p.Asp256Ala)
c.608A>C (p.Asp203Ala)
1g.173909881T=CA1207937034SERPINC1c.824A= (p.Asp275=)
n.475A=
c.559+1983A= (n.559+1983A=)
c.680A= (p.Asp227=)
c.947A= (p.Asp316=)
c.905A= (p.Asp302=)
c.803A= (p.Asp268=)
c.767A= (p.Asp256=)
c.608A= (p.Asp203=)
1g.173909882C>ACA343774659SERPINC1c.823G>T (p.Asp275Tyr)
n.474G>T
c.559+1982G>T (n.559+1982G>T)
c.679G>T (p.Asp227Tyr)
c.946G>T (p.Asp316Tyr)
c.904G>T (p.Asp302Tyr)
c.802G>T (p.Asp268Tyr)
c.766G>T (p.Asp256Tyr)
c.607G>T (p.Asp203Tyr)
1g.173909882C>GCA343774657SERPINC1c.823G>C (p.Asp275His)
n.474G>C
c.559+1982G>C (n.559+1982G>C)
c.679G>C (p.Asp227His)
c.946G>C (p.Asp316His)
c.904G>C (p.Asp302His)
c.802G>C (p.Asp268His)
c.766G>C (p.Asp256His)
c.607G>C (p.Asp203His)
1g.173909882C>TCA343774655SERPINC1c.823G>A (p.Asp275Asn)
n.474G>A
c.559+1982G>A (n.559+1982G>A)
c.679G>A (p.Asp227Asn)
c.946G>A (p.Asp316Asn)
c.904G>A (p.Asp302Asn)
c.802G>A (p.Asp268Asn)
c.766G>A (p.Asp256Asn)
c.607G>A (p.Asp203Asn)
1g.173909883A=CA1148268633SERPINC1c.822T= (p.Ala274=)
n.473T=
c.559+1981T= (n.559+1981T=)
c.678T= (p.Ala226=)
c.945T= (p.Ala315=)
c.903T= (p.Ala301=)
c.801T= (p.Ala267=)
c.765T= (p.Ala255=)
c.606T= (p.Ala202=)
1g.173909883A>CCA421942774SERPINC1c.822T>G (p.Ala274=)
n.473T>G
c.559+1981T>G (n.559+1981T>G)
c.678T>G (p.Ala226=)
c.945T>G (p.Ala315=)
c.903T>G (p.Ala301=)
c.801T>G (p.Ala267=)
c.765T>G (p.Ala255=)
c.606T>G (p.Ala202=)
1g.173909883A>GCA32780428SERPINC1c.822T>C (p.Ala274=)
n.473T>C
c.559+1981T>C (n.559+1981T>C)
c.678T>C (p.Ala226=)
c.945T>C (p.Ala315=)
c.903T>C (p.Ala301=)
c.801T>C (p.Ala267=)
c.765T>C (p.Ala255=)
c.606T>C (p.Ala202=)
 dbSNP
1g.173909883A>TCA421942773SERPINC1c.822T>A (p.Ala274=)
n.473T>A
c.559+1981T>A (n.559+1981T>A)
c.678T>A (p.Ala226=)
c.945T>A (p.Ala315=)
c.903T>A (p.Ala301=)
c.801T>A (p.Ala267=)
c.765T>A (p.Ala255=)
c.606T>A (p.Ala202=)
1g.173909884G>ACA343774662SERPINC1c.821C>T (p.Ala274Val)
n.472C>T
c.559+1980C>T (n.559+1980C>T)
c.677C>T (p.Ala226Val)
c.944C>T (p.Ala315Val)
c.902C>T (p.Ala301Val)
c.800C>T (p.Ala267Val)
c.764C>T (p.Ala255Val)
c.605C>T (p.Ala202Val)
 dbSNP
1g.173909884G>CCA343774663SERPINC1c.821C>G (p.Ala274Gly)
n.472C>G
c.559+1980C>G (n.559+1980C>G)
c.677C>G (p.Ala226Gly)
c.944C>G (p.Ala315Gly)
c.902C>G (p.Ala301Gly)
c.800C>G (p.Ala267Gly)
c.764C>G (p.Ala255Gly)
c.605C>G (p.Ala202Gly)
1g.173909884G=CA1207937035SERPINC1c.821C= (p.Ala274=)
n.472C=
c.559+1980C= (n.559+1980C=)
c.677C= (p.Ala226=)
c.944C= (p.Ala315=)
c.902C= (p.Ala301=)
c.800C= (p.Ala267=)
c.764C= (p.Ala255=)
c.605C= (p.Ala202=)
1g.173909884G>TCA343774664SERPINC1c.821C>A (p.Ala274Asp)
n.472C>A
c.559+1980C>A (n.559+1980C>A)
c.677C>A (p.Ala226Asp)
c.944C>A (p.Ala315Asp)
c.902C>A (p.Ala301Asp)
c.800C>A (p.Ala267Asp)
c.764C>A (p.Ala255Asp)
c.605C>A (p.Ala202Asp)
1g.173909885C>ACA343774666SERPINC1c.820G>T (p.Ala274Ser)
n.471G>T
c.559+1979G>T (n.559+1979G>T)
c.676G>T (p.Ala226Ser)
c.943G>T (p.Ala315Ser)
c.901G>T (p.Ala301Ser)
c.799G>T (p.Ala267Ser)
c.763G>T (p.Ala255Ser)
c.604G>T (p.Ala202Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909885C=CA1207937036SERPINC1c.820G= (p.Ala274=)
n.471G=
c.559+1979G= (n.559+1979G=)
c.676G= (p.Ala226=)
c.943G= (p.Ala315=)
c.901G= (p.Ala301=)
c.799G= (p.Ala267=)
c.763G= (p.Ala255=)
c.604G= (p.Ala202=)
1g.173909885C>GCA343774667SERPINC1c.820G>C (p.Ala274Pro)
n.471G>C
c.559+1979G>C (n.559+1979G>C)
c.676G>C (p.Ala226Pro)
c.943G>C (p.Ala315Pro)
c.901G>C (p.Ala301Pro)
c.799G>C (p.Ala267Pro)
c.763G>C (p.Ala255Pro)
c.604G>C (p.Ala202Pro)
1g.173909885C>TCA343774669SERPINC1c.820G>A (p.Ala274Thr)
n.471G>A
c.559+1979G>A (n.559+1979G>A)
c.676G>A (p.Ala226Thr)
c.943G>A (p.Ala315Thr)
c.901G>A (p.Ala301Thr)
c.799G>A (p.Ala267Thr)
c.763G>A (p.Ala255Thr)
c.604G>A (p.Ala202Thr)
1g.173909886C>ACA343774671SERPINC1c.819G>T (p.Lys273Asn)
n.470G>T
c.559+1978G>T (n.559+1978G>T)
c.675G>T (p.Lys225Asn)
c.942G>T (p.Lys314Asn)
c.900G>T (p.Lys300Asn)
c.798G>T (p.Lys266Asn)
c.763-1G>T (n.763-1G>T)
c.603G>T (p.Lys201Asn)
1g.173909886C>GCA343774672SERPINC1c.819G>C (p.Lys273Asn)
n.470G>C
c.559+1978G>C (n.559+1978G>C)
c.675G>C (p.Lys225Asn)
c.942G>C (p.Lys314Asn)
c.900G>C (p.Lys300Asn)
c.798G>C (p.Lys266Asn)
c.763-1G>C (n.763-1G>C)
c.603G>C (p.Lys201Asn)
 ClinVar dbSNP
1g.173909886C>TCA421942778SERPINC1c.819G>A (p.Lys273=)
n.470G>A
c.559+1978G>A (n.559+1978G>A)
c.675G>A (p.Lys225=)
c.942G>A (p.Lys314=)
c.900G>A (p.Lys300=)
c.798G>A (p.Lys266=)
c.763-1G>A (n.763-1G>A)
c.603G>A (p.Lys201=)
1g.173909887T>ACA343774674SERPINC1c.818A>T (p.Lys273Met)
n.469A>T
c.559+1977A>T (n.559+1977A>T)
c.674A>T (p.Lys225Met)
c.941A>T (p.Lys314Met)
c.899A>T (p.Lys300Met)
c.797A>T (p.Lys266Met)
c.763-2A>T (n.763-2A>T)
c.602A>T (p.Lys201Met)
1g.173909887T>CCA343774675SERPINC1c.818A>G (p.Lys273Arg)
n.469A>G
c.559+1977A>G (n.559+1977A>G)
c.674A>G (p.Lys225Arg)
c.941A>G (p.Lys314Arg)
c.899A>G (p.Lys300Arg)
c.797A>G (p.Lys266Arg)
c.763-2A>G (n.763-2A>G)
c.602A>G (p.Lys201Arg)
 dbSNP
1g.173909887T>GCA343774677SERPINC1c.818A>C (p.Lys273Thr)
n.469A>C
c.559+1977A>C (n.559+1977A>C)
c.674A>C (p.Lys225Thr)
c.941A>C (p.Lys314Thr)
c.899A>C (p.Lys300Thr)
c.797A>C (p.Lys266Thr)
c.763-2A>C (n.763-2A>C)
c.602A>C (p.Lys201Thr)
 dbSNP
1g.173909887T=CA1207937037SERPINC1c.818A= (p.Lys273=)
n.469A=
c.559+1977A= (n.559+1977A=)
c.674A= (p.Lys225=)
c.941A= (p.Lys314=)
c.899A= (p.Lys300=)
c.797A= (p.Lys266=)
c.763-2A= (n.763-2A=)
c.602A= (p.Lys201=)
1g.173909888T>ACA343774681SERPINC1c.817A>T (p.Lys273Ter)
n.468A>T
c.559+1976A>T (n.559+1976A>T)
c.673A>T (p.Lys225Ter)
c.940A>T (p.Lys314Ter)
c.898A>T (p.Lys300Ter)
c.796A>T (p.Lys266Ter)
c.763-3A>T (n.763-3A>T)
c.601A>T (p.Lys201Ter)
1g.173909888T>CCA343774683SERPINC1c.817A>G (p.Lys273Glu)
n.468A>G
c.559+1976A>G (n.559+1976A>G)
c.673A>G (p.Lys225Glu)
c.940A>G (p.Lys314Glu)
c.898A>G (p.Lys300Glu)
c.796A>G (p.Lys266Glu)
c.763-3A>G (n.763-3A>G)
c.601A>G (p.Lys201Glu)
1g.173909888T>GCA343774679SERPINC1c.817A>C (p.Lys273Gln)
n.468A>C
c.559+1976A>C (n.559+1976A>C)
c.673A>C (p.Lys225Gln)
c.940A>C (p.Lys314Gln)
c.898A>C (p.Lys300Gln)
c.796A>C (p.Lys266Gln)
c.763-3A>C (n.763-3A>C)
c.601A>C (p.Lys201Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909888T=CA1207937038SERPINC1c.817A= (p.Lys273=)
n.468A=
c.559+1976A= (n.559+1976A=)
c.673A= (p.Lys225=)
c.940A= (p.Lys314=)
c.898A= (p.Lys300=)
c.796A= (p.Lys266=)
c.763-3A= (n.763-3A=)
c.601A= (p.Lys201=)
1g.173909889G>ACA32780432SERPINC1c.816C>T (p.Tyr272=)
n.467C>T
c.559+1975C>T (n.559+1975C>T)
c.672C>T (p.Tyr224=)
c.939C>T (p.Tyr313=)
c.897C>T (p.Tyr299=)
c.795C>T (p.Tyr265=)
c.763-4C>T (n.763-4C>T)
c.600C>T (p.Tyr200=)
 dbSNP
1g.173909889G>CCA343774686SERPINC1c.816C>G (p.Tyr272Ter)
n.467C>G
c.559+1975C>G (n.559+1975C>G)
c.672C>G (p.Tyr224Ter)
c.939C>G (p.Tyr313Ter)
c.897C>G (p.Tyr299Ter)
c.795C>G (p.Tyr265Ter)
c.763-4C>G (n.763-4C>G)
c.600C>G (p.Tyr200Ter)
1g.173909889G=CA1207937039SERPINC1c.816C= (p.Tyr272=)
n.467C=
c.559+1975C= (n.559+1975C=)
c.672C= (p.Tyr224=)
c.939C= (p.Tyr313=)
c.897C= (p.Tyr299=)
c.795C= (p.Tyr265=)
c.763-4C= (n.763-4C=)
c.600C= (p.Tyr200=)
1g.173909889G>TCA343774688SERPINC1c.816C>A (p.Tyr272Ter)
n.467C>A
c.559+1975C>A (n.559+1975C>A)
c.672C>A (p.Tyr224Ter)
c.939C>A (p.Tyr313Ter)
c.897C>A (p.Tyr299Ter)
c.795C>A (p.Tyr265Ter)
c.763-4C>A (n.763-4C>A)
c.600C>A (p.Tyr200Ter)
1g.173909890T>ACA343774690SERPINC1c.815A>T (p.Tyr272Phe)
n.466A>T
c.559+1974A>T (n.559+1974A>T)
c.671A>T (p.Tyr224Phe)
c.938A>T (p.Tyr313Phe)
c.896A>T (p.Tyr299Phe)
c.794A>T (p.Tyr265Phe)
c.763-5A>T (n.763-5A>T)
c.599A>T (p.Tyr200Phe)
1g.173909890T>CCA343774692SERPINC1c.815A>G (p.Tyr272Cys)
n.466A>G
c.559+1974A>G (n.559+1974A>G)
c.671A>G (p.Tyr224Cys)
c.938A>G (p.Tyr313Cys)
c.896A>G (p.Tyr299Cys)
c.794A>G (p.Tyr265Cys)
c.763-5A>G (n.763-5A>G)
c.599A>G (p.Tyr200Cys)
1g.173909890T>GCA343774693SERPINC1c.815A>C (p.Tyr272Ser)
n.466A>C
c.559+1974A>C (n.559+1974A>C)
c.671A>C (p.Tyr224Ser)
c.938A>C (p.Tyr313Ser)
c.896A>C (p.Tyr299Ser)
c.794A>C (p.Tyr265Ser)
c.763-5A>C (n.763-5A>C)
c.599A>C (p.Tyr200Ser)
1g.173909891A>CCA343774695SERPINC1c.814T>G (p.Tyr272Asp)
n.465T>G
c.559+1973T>G (n.559+1973T>G)
c.670T>G (p.Tyr224Asp)
c.937T>G (p.Tyr313Asp)
c.895T>G (p.Tyr299Asp)
c.793T>G (p.Tyr265Asp)
c.763-6T>G (n.763-6T>G)
c.598T>G (p.Tyr200Asp)
1g.173909891A>GCA343774699SERPINC1c.814T>C (p.Tyr272His)
n.465T>C
c.559+1973T>C (n.559+1973T>C)
c.670T>C (p.Tyr224His)
c.937T>C (p.Tyr313His)
c.895T>C (p.Tyr299His)
c.793T>C (p.Tyr265His)
c.763-6T>C (n.763-6T>C)
c.598T>C (p.Tyr200His)
1g.173909891A>TCA343774697SERPINC1c.814T>A (p.Tyr272Asn)
n.465T>A
c.559+1973T>A (n.559+1973T>A)
c.670T>A (p.Tyr224Asn)
c.937T>A (p.Tyr313Asn)
c.895T>A (p.Tyr299Asn)
c.793T>A (p.Tyr265Asn)
c.763-6T>A (n.763-6T>A)
c.598T>A (p.Tyr200Asn)
1g.173909891dupCA2580651198SERPINC1c.814dup (p.Tyr272LeufsTer4)
n.465dup
c.559+1973dup (n.559+1973dup)
c.670dup (p.Tyr224LeufsTer4)
c.937dup (p.Tyr313LeufsTer4)
c.895dup (p.Tyr299LeufsTer4)
c.793dup (p.Tyr265LeufsTer4)
c.763-6dup (n.763-6dup)
c.598dup (p.Tyr200LeufsTer4)
1g.173909892_173909893delCA2582343016SERPINC1c.813_814del (p.Phe271LeufsTer4)
n.464_465del
c.559+1972_559+1973del (n.559+1972_559+1973del)
c.669_670del (p.Phe223LeufsTer4)
c.936_937del (p.Phe312LeufsTer4)
c.894_895del (p.Phe298LeufsTer4)
c.792_793del (p.Phe264LeufsTer4)
c.763-7_763-6del (n.763-7_763-6del)
c.597_598del (p.Phe199LeufsTer4)
1g.173909892G>ACA421942783SERPINC1c.813C>T (p.Phe271=)
n.464C>T
c.559+1972C>T (n.559+1972C>T)
c.669C>T (p.Phe223=)
c.936C>T (p.Phe312=)
c.894C>T (p.Phe298=)
c.792C>T (p.Phe264=)
c.763-7C>T (n.763-7C>T)
c.597C>T (p.Phe199=)
 gnomAD v4
1g.173909892G>CCA343774700SERPINC1c.813C>G (p.Phe271Leu)
n.464C>G
c.559+1972C>G (n.559+1972C>G)
c.669C>G (p.Phe223Leu)
c.936C>G (p.Phe312Leu)
c.894C>G (p.Phe298Leu)
c.792C>G (p.Phe264Leu)
c.763-7C>G (n.763-7C>G)
c.597C>G (p.Phe199Leu)
1g.173909892G>TCA343774702SERPINC1c.813C>A (p.Phe271Leu)
n.464C>A
c.559+1972C>A (n.559+1972C>A)
c.669C>A (p.Phe223Leu)
c.936C>A (p.Phe312Leu)
c.894C>A (p.Phe298Leu)
c.792C>A (p.Phe264Leu)
c.763-7C>A (n.763-7C>A)
c.597C>A (p.Phe199Leu)
1g.173909893A>CCA343774704SERPINC1c.812T>G (p.Phe271Cys)
n.463T>G
c.559+1971T>G (n.559+1971T>G)
c.668T>G (p.Phe223Cys)
c.935T>G (p.Phe312Cys)
c.893T>G (p.Phe298Cys)
c.791T>G (p.Phe264Cys)
c.763-8T>G (n.763-8T>G)
c.596T>G (p.Phe199Cys)
1g.173909893A>GCA343774705SERPINC1c.812T>C (p.Phe271Ser)
n.463T>C
c.559+1971T>C (n.559+1971T>C)
c.668T>C (p.Phe223Ser)
c.935T>C (p.Phe312Ser)
c.893T>C (p.Phe298Ser)
c.791T>C (p.Phe264Ser)
c.763-8T>C (n.763-8T>C)
c.596T>C (p.Phe199Ser)
1g.173909893A>TCA343774707SERPINC1c.812T>A (p.Phe271Tyr)
n.463T>A
c.559+1971T>A (n.559+1971T>A)
c.668T>A (p.Phe223Tyr)
c.935T>A (p.Phe312Tyr)
c.893T>A (p.Phe298Tyr)
c.791T>A (p.Phe264Tyr)
c.763-8T>A (n.763-8T>A)
c.596T>A (p.Phe199Tyr)
1g.173909894A>CCA343774711SERPINC1c.811T>G (p.Phe271Val)
n.462T>G
c.559+1970T>G (n.559+1970T>G)
c.667T>G (p.Phe223Val)
c.934T>G (p.Phe312Val)
c.892T>G (p.Phe298Val)
c.790T>G (p.Phe264Val)
c.763-9T>G (n.763-9T>G)
c.595T>G (p.Phe199Val)
1g.173909894A>GCA343774713SERPINC1c.811T>C (p.Phe271Leu)
n.462T>C
c.559+1970T>C (n.559+1970T>C)
c.667T>C (p.Phe223Leu)
c.934T>C (p.Phe312Leu)
c.892T>C (p.Phe298Leu)
c.790T>C (p.Phe264Leu)
c.763-9T>C (n.763-9T>C)
c.595T>C (p.Phe199Leu)
1g.173909894A>TCA343774709SERPINC1c.811T>A (p.Phe271Ile)
n.462T>A
c.559+1970T>A (n.559+1970T>A)
c.667T>A (p.Phe223Ile)
c.934T>A (p.Phe312Ile)
c.892T>A (p.Phe298Ile)
c.790T>A (p.Phe264Ile)
c.763-9T>A (n.763-9T>A)
c.595T>A (p.Phe199Ile)
1g.173909895C>ACA421942785SERPINC1c.810G>T (p.Leu270=)
n.461G>T
c.559+1969G>T (n.559+1969G>T)
c.666G>T (p.Leu222=)
c.933G>T (p.Leu311=)
c.891G>T (p.Leu297=)
c.789G>T (p.Leu263=)
c.763-10G>T (n.763-10G>T)
c.594G>T (p.Leu198=)
1g.173909895C>GCA421942787SERPINC1c.810G>C (p.Leu270=)
n.461G>C
c.559+1969G>C (n.559+1969G>C)
c.666G>C (p.Leu222=)
c.933G>C (p.Leu311=)
c.891G>C (p.Leu297=)
c.789G>C (p.Leu263=)
c.763-10G>C (n.763-10G>C)
c.594G>C (p.Leu198=)
1g.173909895C>TCA421942786SERPINC1c.810G>A (p.Leu270=)
n.461G>A
c.559+1969G>A (n.559+1969G>A)
c.666G>A (p.Leu222=)
c.933G>A (p.Leu311=)
c.891G>A (p.Leu297=)
c.789G>A (p.Leu263=)
c.763-10G>A (n.763-10G>A)
c.594G>A (p.Leu198=)
 gnomAD v4
1g.173909896delCA2586964407SERPINC1c.809del (p.Leu270ArgfsTer14)
n.460del
c.559+1968del (n.559+1968del)
c.665del (p.Leu222ArgfsTer14)
c.932del (p.Leu311ArgfsTer14)
c.890del (p.Leu297ArgfsTer14)
c.788del (p.Leu263ArgfsTer14)
c.763-11del (n.763-11del)
c.593del (p.Leu198ArgfsTer14)
1g.173909896A=CA1207937040SERPINC1c.809T= (p.Leu270=)
n.460T=
c.559+1968T= (n.559+1968T=)
c.665T= (p.Leu222=)
c.932T= (p.Leu311=)
c.890T= (p.Leu297=)
c.788T= (p.Leu263=)
c.763-11T= (n.763-11T=)
c.593T= (p.Leu198=)
1g.173909896A>CCA343774715SERPINC1c.809T>G (p.Leu270Arg)
n.460T>G
c.559+1968T>G (n.559+1968T>G)
c.665T>G (p.Leu222Arg)
c.932T>G (p.Leu311Arg)
c.890T>G (p.Leu297Arg)
c.788T>G (p.Leu263Arg)
c.763-11T>G (n.763-11T>G)
c.593T>G (p.Leu198Arg)
1g.173909896A>GCA343774718SERPINC1c.809T>C (p.Leu270Pro)
n.460T>C
c.559+1968T>C (n.559+1968T>C)
c.665T>C (p.Leu222Pro)
c.932T>C (p.Leu311Pro)
c.890T>C (p.Leu297Pro)
c.788T>C (p.Leu263Pro)
c.763-11T>C (n.763-11T>C)
c.593T>C (p.Leu198Pro)
 dbSNP
1g.173909896A>TCA343774717SERPINC1c.809T>A (p.Leu270Gln)
n.460T>A
c.559+1968T>A (n.559+1968T>A)
c.665T>A (p.Leu222Gln)
c.932T>A (p.Leu311Gln)
c.890T>A (p.Leu297Gln)
c.788T>A (p.Leu263Gln)
c.763-11T>A (n.763-11T>A)
c.593T>A (p.Leu198Gln)
1g.173909897G>ACA1251331SERPINC1c.808C>T (p.Leu270=)
n.459C>T
c.559+1967C>T (n.559+1967C>T)
c.664C>T (p.Leu222=)
c.931C>T (p.Leu311=)
c.889C>T (p.Leu297=)
c.787C>T (p.Leu263=)
c.763-12C>T (n.763-12C>T)
c.592C>T (p.Leu198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909897G>CCA343774721SERPINC1c.808C>G (p.Leu270Val)
n.459C>G
c.559+1967C>G (n.559+1967C>G)
c.664C>G (p.Leu222Val)
c.931C>G (p.Leu311Val)
c.889C>G (p.Leu297Val)
c.787C>G (p.Leu263Val)
c.763-12C>G (n.763-12C>G)
c.592C>G (p.Leu198Val)
1g.173909897G=CA1141670581SERPINC1c.808C= (p.Leu270=)
n.459C=
c.559+1967C= (n.559+1967C=)
c.664C= (p.Leu222=)
c.931C= (p.Leu311=)
c.889C= (p.Leu297=)
c.787C= (p.Leu263=)
c.763-12C= (n.763-12C=)
c.592C= (p.Leu198=)
1g.173909897G>TCA343774722SERPINC1c.808C>A (p.Leu270Met)
n.459C>A
c.559+1967C>A (n.559+1967C>A)
c.664C>A (p.Leu222Met)
c.931C>A (p.Leu311Met)
c.889C>A (p.Leu297Met)
c.787C>A (p.Leu263Met)
c.763-12C>A (n.763-12C>A)
c.592C>A (p.Leu198Met)
 gnomAD v4
1g.173909898T>ACA343774723SERPINC1c.807A>T (p.Glu269Asp)
n.458A>T
c.559+1966A>T (n.559+1966A>T)
c.663A>T (p.Glu221Asp)
c.930A>T (p.Glu310Asp)
c.888A>T (p.Glu296Asp)
c.786A>T (p.Glu262Asp)
c.763-13A>T (n.763-13A>T)
c.591A>T (p.Glu197Asp)
1g.173909898T>CCA421942788SERPINC1c.807A>G (p.Glu269=)
n.458A>G
c.559+1966A>G (n.559+1966A>G)
c.663A>G (p.Glu221=)
c.930A>G (p.Glu310=)
c.888A>G (p.Glu296=)
c.786A>G (p.Glu262=)
c.763-13A>G (n.763-13A>G)
c.591A>G (p.Glu197=)
1g.173909898T>GCA343774724SERPINC1c.807A>C (p.Glu269Asp)
n.458A>C
c.559+1966A>C (n.559+1966A>C)
c.663A>C (p.Glu221Asp)
c.930A>C (p.Glu310Asp)
c.888A>C (p.Glu296Asp)
c.786A>C (p.Glu262Asp)
c.763-13A>C (n.763-13A>C)
c.591A>C (p.Glu197Asp)
1g.173909904_173909907delCA2582179132SERPINC1c.804_807del (p.Lys268AsnfsTer15)
n.455_458del
c.559+1963_559+1966del (n.559+1963_559+1966del)
c.660_663del (p.Lys220AsnfsTer15)
c.927_930del (p.Lys309AsnfsTer15)
c.885_888del (p.Lys295AsnfsTer15)
c.783_786del (p.Lys261AsnfsTer15)
c.763-16_763-13del (n.763-16_763-13del)
c.588_591del (p.Lys196AsnfsTer15)
1g.173909899T>ACA343774725SERPINC1c.806A>T (p.Glu269Val)
n.457A>T
c.559+1965A>T (n.559+1965A>T)
c.662A>T (p.Glu221Val)
c.929A>T (p.Glu310Val)
c.887A>T (p.Glu296Val)
c.785A>T (p.Glu262Val)
c.763-14A>T (n.763-14A>T)
c.590A>T (p.Glu197Val)
1g.173909899T>CCA343774726SERPINC1c.806A>G (p.Glu269Gly)
n.457A>G
c.559+1965A>G (n.559+1965A>G)
c.662A>G (p.Glu221Gly)
c.929A>G (p.Glu310Gly)
c.887A>G (p.Glu296Gly)
c.785A>G (p.Glu262Gly)
c.763-14A>G (n.763-14A>G)
c.590A>G (p.Glu197Gly)
1g.173909899T>GCA343774727SERPINC1c.806A>C (p.Glu269Ala)
n.457A>C
c.559+1965A>C (n.559+1965A>C)
c.662A>C (p.Glu221Ala)
c.929A>C (p.Glu310Ala)
c.887A>C (p.Glu296Ala)
c.785A>C (p.Glu262Ala)
c.763-14A>C (n.763-14A>C)
c.590A>C (p.Glu197Ala)
1g.173909899_173909904delinsTCCTTCCA1207937041SERPINC1c.801_806delinsGAAGGA (p.Arg267=)
n.452_457delinsGAAGGA
c.559+1960_559+1965delinsGAAGGA (n.559+1960_559+1965delinsGAAGGA)
c.657_662delinsGAAGGA (p.Arg219=)
c.924_929delinsGAAGGA (p.Arg308=)
c.882_887delinsGAAGGA (p.Arg294=)
c.780_785delinsGAAGGA (p.Arg260=)
c.763-19_763-14delinsGAAGGA (n.763-19_763-14delinsGAAGGA)
c.585_590delinsGAAGGA (p.Arg195=)
1g.173909900C>ACA343774728SERPINC1c.805G>T (p.Glu269Ter)
n.456G>T
c.559+1964G>T (n.559+1964G>T)
c.661G>T (p.Glu221Ter)
c.928G>T (p.Glu310Ter)
c.886G>T (p.Glu296Ter)
c.784G>T (p.Glu262Ter)
c.763-15G>T (n.763-15G>T)
c.589G>T (p.Glu197Ter)
1g.173909900C=CA1207937042SERPINC1c.805G= (p.Glu269=)
n.456G=
c.559+1964G= (n.559+1964G=)
c.661G= (p.Glu221=)
c.928G= (p.Glu310=)
c.886G= (p.Glu296=)
c.784G= (p.Glu262=)
c.763-15G= (n.763-15G=)
c.589G= (p.Glu197=)
1g.173909900C>GCA343774729SERPINC1c.805G>C (p.Glu269Gln)
n.456G>C
c.559+1964G>C (n.559+1964G>C)
c.661G>C (p.Glu221Gln)
c.928G>C (p.Glu310Gln)
c.886G>C (p.Glu296Gln)
c.784G>C (p.Glu262Gln)
c.763-15G>C (n.763-15G>C)
c.589G>C (p.Glu197Gln)
1g.173909900C>TCA1251332SERPINC1c.805G>A (p.Glu269Lys)
n.456G>A
c.559+1964G>A (n.559+1964G>A)
c.661G>A (p.Glu221Lys)
c.928G>A (p.Glu310Lys)
c.886G>A (p.Glu296Lys)
c.784G>A (p.Glu262Lys)
c.763-15G>A (n.763-15G>A)
c.589G>A (p.Glu197Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909901delCA2586964408SERPINC1c.805del (p.Glu269AsnfsTer15)
n.456del
c.559+1964del (n.559+1964del)
c.661del (p.Glu221AsnfsTer15)
c.928del (p.Glu310AsnfsTer15)
c.886del (p.Glu296AsnfsTer15)
c.784del (p.Glu262AsnfsTer15)
c.763-15del (n.763-15del)
c.589del (p.Glu197AsnfsTer15)
1g.173909901_173909905delCA915943670SERPINC1c.801_805del (p.Lys268ThrfsTer6)
n.452_456del
c.559+1960_559+1964del (n.559+1960_559+1964del)
c.657_661del (p.Lys220ThrfsTer6)
c.924_928del (p.Lys309ThrfsTer6)
c.882_886del (p.Lys295ThrfsTer6)
c.780_784del (p.Lys261ThrfsTer6)
c.763-19_763-15del (n.763-19_763-15del)
c.585_589del (p.Lys196ThrfsTer6)
 ClinVar dbSNP
1g.173909901C>ACA343774730SERPINC1c.804G>T (p.Lys268Asn)
n.455G>T
c.559+1963G>T (n.559+1963G>T)
c.660G>T (p.Lys220Asn)
c.927G>T (p.Lys309Asn)
c.885G>T (p.Lys295Asn)
c.783G>T (p.Lys261Asn)
c.763-16G>T (n.763-16G>T)
c.588G>T (p.Lys196Asn)
1g.173909901C>GCA343774731SERPINC1c.804G>C (p.Lys268Asn)
n.455G>C
c.559+1963G>C (n.559+1963G>C)
c.660G>C (p.Lys220Asn)
c.927G>C (p.Lys309Asn)
c.885G>C (p.Lys295Asn)
c.783G>C (p.Lys261Asn)
c.763-16G>C (n.763-16G>C)
c.588G>C (p.Lys196Asn)
1g.173909901C>TCA421942791SERPINC1c.804G>A (p.Lys268=)
n.455G>A
c.559+1963G>A (n.559+1963G>A)
c.660G>A (p.Lys220=)
c.927G>A (p.Lys309=)
c.885G>A (p.Lys295=)
c.783G>A (p.Lys261=)
c.763-16G>A (n.763-16G>A)
c.588G>A (p.Lys196=)
1g.173909902T>ACA343774732SERPINC1c.803A>T (p.Lys268Met)
n.454A>T
c.559+1962A>T (n.559+1962A>T)
c.659A>T (p.Lys220Met)
c.926A>T (p.Lys309Met)
c.884A>T (p.Lys295Met)
c.782A>T (p.Lys261Met)
c.763-17A>T (n.763-17A>T)
c.587A>T (p.Lys196Met)
1g.173909902T>CCA343774734SERPINC1c.803A>G (p.Lys268Arg)
n.454A>G
c.559+1962A>G (n.559+1962A>G)
c.659A>G (p.Lys220Arg)
c.926A>G (p.Lys309Arg)
c.884A>G (p.Lys295Arg)
c.782A>G (p.Lys261Arg)
c.763-17A>G (n.763-17A>G)
c.587A>G (p.Lys196Arg)
1g.173909902T>GCA343774733SERPINC1c.803A>C (p.Lys268Thr)
n.454A>C
c.559+1962A>C (n.559+1962A>C)
c.659A>C (p.Lys220Thr)
c.926A>C (p.Lys309Thr)
c.884A>C (p.Lys295Thr)
c.782A>C (p.Lys261Thr)
c.763-17A>C (n.763-17A>C)
c.587A>C (p.Lys196Thr)
1g.173909903T>ACA343774735SERPINC1c.802A>T (p.Lys268Ter)
n.453A>T
c.559+1961A>T (n.559+1961A>T)
c.658A>T (p.Lys220Ter)
c.925A>T (p.Lys309Ter)
c.883A>T (p.Lys295Ter)
c.781A>T (p.Lys261Ter)
c.763-18A>T (n.763-18A>T)
c.586A>T (p.Lys196Ter)
1g.173909903T>CCA343774736SERPINC1c.802A>G (p.Lys268Glu)
n.453A>G
c.559+1961A>G (n.559+1961A>G)
c.658A>G (p.Lys220Glu)
c.925A>G (p.Lys309Glu)
c.883A>G (p.Lys295Glu)
c.781A>G (p.Lys261Glu)
c.763-18A>G (n.763-18A>G)
c.586A>G (p.Lys196Glu)
1g.173909903T>GCA343774737SERPINC1c.802A>C (p.Lys268Gln)
n.453A>C
c.559+1961A>C (n.559+1961A>C)
c.658A>C (p.Lys220Gln)
c.925A>C (p.Lys309Gln)
c.883A>C (p.Lys295Gln)
c.781A>C (p.Lys261Gln)
c.763-18A>C (n.763-18A>C)
c.586A>C (p.Lys196Gln)
1g.173909904C>ACA343774738SERPINC1c.801G>T (p.Arg267Ser)
n.452G>T
c.559+1960G>T (n.559+1960G>T)
c.657G>T (p.Arg219Ser)
c.924G>T (p.Arg308Ser)
c.882G>T (p.Arg294Ser)
c.780G>T (p.Arg260Ser)
c.763-19G>T (n.763-19G>T)
c.585G>T (p.Arg195Ser)
1g.173909904C>GCA343774739SERPINC1c.801G>C (p.Arg267Ser)
n.452G>C
c.559+1960G>C (n.559+1960G>C)
c.657G>C (p.Arg219Ser)
c.924G>C (p.Arg308Ser)
c.882G>C (p.Arg294Ser)
c.780G>C (p.Arg260Ser)
c.763-19G>C (n.763-19G>C)
c.585G>C (p.Arg195Ser)
1g.173909904C>TCA421942793SERPINC1c.801G>A (p.Arg267=)
n.452G>A
c.559+1960G>A (n.559+1960G>A)
c.657G>A (p.Arg219=)
c.924G>A (p.Arg308=)
c.882G>A (p.Arg294=)
c.780G>A (p.Arg260=)
c.763-19G>A (n.763-19G>A)
c.585G>A (p.Arg195=)
1g.173909905C>ACA343774740SERPINC1c.800G>T (p.Arg267Met)
n.451G>T
c.559+1959G>T (n.559+1959G>T)
c.656G>T (p.Arg219Met)
c.923G>T (p.Arg308Met)
c.881G>T (p.Arg294Met)
c.779G>T (p.Arg260Met)
c.763-20G>T (n.763-20G>T)
c.584G>T (p.Arg195Met)
1g.173909905C>GCA343774741SERPINC1c.800G>C (p.Arg267Thr)
n.451G>C
c.559+1959G>C (n.559+1959G>C)
c.656G>C (p.Arg219Thr)
c.923G>C (p.Arg308Thr)
c.881G>C (p.Arg294Thr)
c.779G>C (p.Arg260Thr)
c.763-20G>C (n.763-20G>C)
c.584G>C (p.Arg195Thr)
1g.173909905C>TCA343774742SERPINC1c.800G>A (p.Arg267Lys)
n.451G>A
c.559+1959G>A (n.559+1959G>A)
c.656G>A (p.Arg219Lys)
c.923G>A (p.Arg308Lys)
c.881G>A (p.Arg294Lys)
c.779G>A (p.Arg260Lys)
c.763-20G>A (n.763-20G>A)
c.584G>A (p.Arg195Lys)
1g.173909906T>ACA343774743SERPINC1c.799A>T (p.Arg267Trp)
n.450A>T
c.559+1958A>T (n.559+1958A>T)
c.655A>T (p.Arg219Trp)
c.922A>T (p.Arg308Trp)
c.880A>T (p.Arg294Trp)
c.778A>T (p.Arg260Trp)
c.763-21A>T (n.763-21A>T)
c.583A>T (p.Arg195Trp)
1g.173909906T>CCA343774744SERPINC1c.799A>G (p.Arg267Gly)
n.450A>G
c.559+1958A>G (n.559+1958A>G)
c.655A>G (p.Arg219Gly)
c.922A>G (p.Arg308Gly)
c.880A>G (p.Arg294Gly)
c.778A>G (p.Arg260Gly)
c.763-21A>G (n.763-21A>G)
c.583A>G (p.Arg195Gly)
 gnomAD v4
1g.173909906T>GCA421942798SERPINC1c.799A>C (p.Arg267=)
n.450A>C
c.559+1958A>C (n.559+1958A>C)
c.655A>C (p.Arg219=)
c.922A>C (p.Arg308=)
c.880A>C (p.Arg294=)
c.778A>C (p.Arg260=)
c.763-21A>C (n.763-21A>C)
c.583A>C (p.Arg195=)
1g.173909907T>ACA421942799SERPINC1c.798A>T (p.Thr266=)
n.449A>T
c.559+1957A>T (n.559+1957A>T)
c.654A>T (p.Thr218=)
c.921A>T (p.Thr307=)
c.879A>T (p.Thr293=)
c.777A>T (p.Thr259=)
c.763-22A>T (n.763-22A>T)
c.582A>T (p.Thr194=)
1g.173909907T>CCA421942800SERPINC1c.798A>G (p.Thr266=)
n.449A>G
c.559+1957A>G (n.559+1957A>G)
c.654A>G (p.Thr218=)
c.921A>G (p.Thr307=)
c.879A>G (p.Thr293=)
c.777A>G (p.Thr259=)
c.763-22A>G (n.763-22A>G)
c.582A>G (p.Thr194=)
 gnomAD v4
1g.173909907T>GCA421942801SERPINC1c.798A>C (p.Thr266=)
n.449A>C
c.559+1957A>C (n.559+1957A>C)
c.654A>C (p.Thr218=)
c.921A>C (p.Thr307=)
c.879A>C (p.Thr293=)
c.777A>C (p.Thr259=)
c.763-22A>C (n.763-22A>C)
c.582A>C (p.Thr194=)
1g.173909908G>ACA343774747SERPINC1c.797C>T (p.Thr266Ile)
n.448C>T
c.559+1956C>T (n.559+1956C>T)
c.653C>T (p.Thr218Ile)
c.920C>T (p.Thr307Ile)
c.878C>T (p.Thr293Ile)
c.776C>T (p.Thr259Ile)
c.763-23C>T (n.763-23C>T)
c.581C>T (p.Thr194Ile)
1g.173909908G>CCA343774746SERPINC1c.797C>G (p.Thr266Arg)
n.448C>G
c.559+1956C>G (n.559+1956C>G)
c.653C>G (p.Thr218Arg)
c.920C>G (p.Thr307Arg)
c.878C>G (p.Thr293Arg)
c.776C>G (p.Thr259Arg)
c.763-23C>G (n.763-23C>G)
c.581C>G (p.Thr194Arg)
1g.173909908G=CA1207937043SERPINC1c.797C= (p.Thr266=)
n.448C=
c.559+1956C= (n.559+1956C=)
c.653C= (p.Thr218=)
c.920C= (p.Thr307=)
c.878C= (p.Thr293=)
c.776C= (p.Thr259=)
c.763-23C= (n.763-23C=)
c.581C= (p.Thr194=)
1g.173909908G>TCA343774745SERPINC1c.797C>A (p.Thr266Lys)
n.448C>A
c.559+1956C>A (n.559+1956C>A)
c.653C>A (p.Thr218Lys)
c.920C>A (p.Thr307Lys)
c.878C>A (p.Thr293Lys)
c.776C>A (p.Thr259Lys)
c.763-23C>A (n.763-23C>A)
c.581C>A (p.Thr194Lys)
 ClinVar dbSNP
1g.173909909T>ACA343774750SERPINC1c.796A>T (p.Thr266Ser)
n.447A>T
c.559+1955A>T (n.559+1955A>T)
c.652A>T (p.Thr218Ser)
c.919A>T (p.Thr307Ser)
c.877A>T (p.Thr293Ser)
c.775A>T (p.Thr259Ser)
c.763-24A>T (n.763-24A>T)
c.580A>T (p.Thr194Ser)
1g.173909909T>CCA343774748SERPINC1c.796A>G (p.Thr266Ala)
n.447A>G
c.559+1955A>G (n.559+1955A>G)
c.652A>G (p.Thr218Ala)
c.919A>G (p.Thr307Ala)
c.877A>G (p.Thr293Ala)
c.775A>G (p.Thr259Ala)
c.763-24A>G (n.763-24A>G)
c.580A>G (p.Thr194Ala)
1g.173909909T>GCA343774749SERPINC1c.796A>C (p.Thr266Pro)
n.447A>C
c.559+1955A>C (n.559+1955A>C)
c.652A>C (p.Thr218Pro)
c.919A>C (p.Thr307Pro)
c.877A>C (p.Thr293Pro)
c.775A>C (p.Thr259Pro)
c.763-24A>C (n.763-24A>C)
c.580A>C (p.Thr194Pro)
1g.173909910G>ACA421942804SERPINC1c.795C>T (p.Asn265=)
n.446C>T
c.559+1954C>T (n.559+1954C>T)
c.651C>T (p.Asn217=)
c.918C>T (p.Asn306=)
c.876C>T (p.Asn292=)
c.774C>T (p.Asn258=)
c.763-25C>T (n.763-25C>T)
c.579C>T (p.Asn193=)
 dbSNP gnomAD v2 gnomAD v4
1g.173909910G>CCA343774751SERPINC1c.795C>G (p.Asn265Lys)
n.446C>G
c.559+1954C>G (n.559+1954C>G)
c.651C>G (p.Asn217Lys)
c.918C>G (p.Asn306Lys)
c.876C>G (p.Asn292Lys)
c.774C>G (p.Asn258Lys)
c.763-25C>G (n.763-25C>G)
c.579C>G (p.Asn193Lys)
1g.173909910G=CA1207937044SERPINC1c.795C= (p.Asn265=)
n.446C=
c.559+1954C= (n.559+1954C=)
c.651C= (p.Asn217=)
c.918C= (p.Asn306=)
c.876C= (p.Asn292=)
c.774C= (p.Asn258=)
c.763-25C= (n.763-25C=)
c.579C= (p.Asn193=)
1g.173909910G>TCA343774752SERPINC1c.795C>A (p.Asn265Lys)
n.446C>A
c.559+1954C>A (n.559+1954C>A)
c.651C>A (p.Asn217Lys)
c.918C>A (p.Asn306Lys)
c.876C>A (p.Asn292Lys)
c.774C>A (p.Asn258Lys)
c.763-25C>A (n.763-25C>A)
c.579C>A (p.Asn193Lys)
1g.173909911T>ACA343774753SERPINC1c.794A>T (p.Asn265Ile)
n.445A>T
c.559+1953A>T (n.559+1953A>T)
c.650A>T (p.Asn217Ile)
c.917A>T (p.Asn306Ile)
c.875A>T (p.Asn292Ile)
c.773A>T (p.Asn258Ile)
c.763-26A>T (n.763-26A>T)
c.578A>T (p.Asn193Ile)
1g.173909911T>CCA343774754SERPINC1c.794A>G (p.Asn265Ser)
n.445A>G
c.559+1953A>G (n.559+1953A>G)
c.650A>G (p.Asn217Ser)
c.917A>G (p.Asn306Ser)
c.875A>G (p.Asn292Ser)
c.773A>G (p.Asn258Ser)
c.763-26A>G (n.763-26A>G)
c.578A>G (p.Asn193Ser)
1g.173909911T>GCA343774755SERPINC1c.794A>C (p.Asn265Thr)
n.445A>C
c.559+1953A>C (n.559+1953A>C)
c.650A>C (p.Asn217Thr)
c.917A>C (p.Asn306Thr)
c.875A>C (p.Asn292Thr)
c.773A>C (p.Asn258Thr)
c.763-26A>C (n.763-26A>C)
c.578A>C (p.Asn193Thr)
1g.173909912T>ACA343774756SERPINC1c.793A>T (p.Asn265Tyr)
n.444A>T
c.559+1952A>T (n.559+1952A>T)
c.649A>T (p.Asn217Tyr)
c.916A>T (p.Asn306Tyr)
c.874A>T (p.Asn292Tyr)
c.772A>T (p.Asn258Tyr)
c.763-27A>T (n.763-27A>T)
c.577A>T (p.Asn193Tyr)
1g.173909912T>CCA343774757SERPINC1c.793A>G (p.Asn265Asp)
n.444A>G
c.559+1952A>G (n.559+1952A>G)
c.649A>G (p.Asn217Asp)
c.916A>G (p.Asn306Asp)
c.874A>G (p.Asn292Asp)
c.772A>G (p.Asn258Asp)
c.763-27A>G (n.763-27A>G)
c.577A>G (p.Asn193Asp)
1g.173909912T>GCA343774758SERPINC1c.793A>C (p.Asn265His)
n.444A>C
c.559+1952A>C (n.559+1952A>C)
c.649A>C (p.Asn217His)
c.916A>C (p.Asn306His)
c.874A>C (p.Asn292His)
c.772A>C (p.Asn258His)
c.763-27A>C (n.763-27A>C)
c.577A>C (p.Asn193His)
1g.173909913C>ACA343774759SERPINC1c.792G>T (p.Glu264Asp)
n.443G>T
c.559+1951G>T (n.559+1951G>T)
c.648G>T (p.Glu216Asp)
c.915G>T (p.Glu305Asp)
c.873G>T (p.Glu291Asp)
c.771G>T (p.Glu257Asp)
c.763-28G>T (n.763-28G>T)
c.576G>T (p.Glu192Asp)
1g.173909913C=CA1207937045SERPINC1c.792G= (p.Glu264=)
n.443G=
c.559+1951G= (n.559+1951G=)
c.648G= (p.Glu216=)
c.915G= (p.Glu305=)
c.873G= (p.Glu291=)
c.771G= (p.Glu257=)
c.763-28G= (n.763-28G=)
c.576G= (p.Glu192=)
1g.173909913C>GCA343774760SERPINC1c.792G>C (p.Glu264Asp)
n.443G>C
c.559+1951G>C (n.559+1951G>C)
c.648G>C (p.Glu216Asp)
c.915G>C (p.Glu305Asp)
c.873G>C (p.Glu291Asp)
c.771G>C (p.Glu257Asp)
c.763-28G>C (n.763-28G>C)
c.576G>C (p.Glu192Asp)
1g.173909913C>TCA421942808SERPINC1c.792G>A (p.Glu264=)
n.443G>A
c.559+1951G>A (n.559+1951G>A)
c.648G>A (p.Glu216=)
c.915G>A (p.Glu305=)
c.873G>A (p.Glu291=)
c.771G>A (p.Glu257=)
c.763-28G>A (n.763-28G>A)
c.576G>A (p.Glu192=)
 dbSNP gnomAD v2 gnomAD v4
1g.173909914T>ACA343774762SERPINC1c.791A>T (p.Glu264Val)
n.442A>T
c.559+1950A>T (n.559+1950A>T)
c.647A>T (p.Glu216Val)
c.914A>T (p.Glu305Val)
c.872A>T (p.Glu291Val)
c.770A>T (p.Glu257Val)
c.763-29A>T (n.763-29A>T)
c.575A>T (p.Glu192Val)
1g.173909914T>CCA343774763SERPINC1c.791A>G (p.Glu264Gly)
n.442A>G
c.559+1950A>G (n.559+1950A>G)
c.647A>G (p.Glu216Gly)
c.914A>G (p.Glu305Gly)
c.872A>G (p.Glu291Gly)
c.770A>G (p.Glu257Gly)
c.763-29A>G (n.763-29A>G)
c.575A>G (p.Glu192Gly)
1g.173909914T>GCA343774761SERPINC1c.791A>C (p.Glu264Ala)
n.442A>C
c.559+1950A>C (n.559+1950A>C)
c.647A>C (p.Glu216Ala)
c.914A>C (p.Glu305Ala)
c.872A>C (p.Glu291Ala)
c.770A>C (p.Glu257Ala)
c.763-29A>C (n.763-29A>C)
c.575A>C (p.Glu192Ala)
1g.173909915C>ACA343774764SERPINC1c.790G>T (p.Glu264Ter)
n.441G>T
c.559+1949G>T (n.559+1949G>T)
c.646G>T (p.Glu216Ter)
c.913G>T (p.Glu305Ter)
c.871G>T (p.Glu291Ter)
c.769G>T (p.Glu257Ter)
c.763-30G>T (n.763-30G>T)
c.574G>T (p.Glu192Ter)
1g.173909915C>GCA343774765SERPINC1c.790G>C (p.Glu264Gln)
n.441G>C
c.559+1949G>C (n.559+1949G>C)
c.646G>C (p.Glu216Gln)
c.913G>C (p.Glu305Gln)
c.871G>C (p.Glu291Gln)
c.769G>C (p.Glu257Gln)
c.763-30G>C (n.763-30G>C)
c.574G>C (p.Glu192Gln)
 ClinVar gnomAD v4
1g.173909915C>TCA343774766SERPINC1c.790G>A (p.Glu264Lys)
n.441G>A
c.559+1949G>A (n.559+1949G>A)
c.646G>A (p.Glu216Lys)
c.913G>A (p.Glu305Lys)
c.871G>A (p.Glu291Lys)
c.769G>A (p.Glu257Lys)
c.763-30G>A (n.763-30G>A)
c.574G>A (p.Glu192Lys)
 gnomAD v4
1g.173909916A>CCA421942812SERPINC1c.789T>G (p.Pro263=)
n.440T>G
c.559+1948T>G (n.559+1948T>G)
c.645T>G (p.Pro215=)
c.912T>G (p.Pro304=)
c.870T>G (p.Pro290=)
c.768T>G (p.Pro256=)
c.763-31T>G (n.763-31T>G)
c.573T>G (p.Pro191=)
1g.173909916A>GCA421942813SERPINC1c.789T>C (p.Pro263=)
n.440T>C
c.559+1948T>C (n.559+1948T>C)
c.645T>C (p.Pro215=)
c.912T>C (p.Pro304=)
c.870T>C (p.Pro290=)
c.768T>C (p.Pro256=)
c.763-31T>C (n.763-31T>C)
c.573T>C (p.Pro191=)
1g.173909916A>TCA421942814SERPINC1c.789T>A (p.Pro263=)
n.440T>A
c.559+1948T>A (n.559+1948T>A)
c.645T>A (p.Pro215=)
c.912T>A (p.Pro304=)
c.870T>A (p.Pro290=)
c.768T>A (p.Pro256=)
c.763-31T>A (n.763-31T>A)
c.573T>A (p.Pro191=)
1g.173909917G>ACA343774767SERPINC1c.788C>T (p.Pro263Leu)
n.439C>T
c.559+1947C>T (n.559+1947C>T)
c.644C>T (p.Pro215Leu)
c.911C>T (p.Pro304Leu)
c.869C>T (p.Pro290Leu)
c.767C>T (p.Pro256Leu)
c.763-32C>T (n.763-32C>T)
c.572C>T (p.Pro191Leu)
 gnomAD v4
1g.173909917G>CCA343774768SERPINC1c.788C>G (p.Pro263Arg)
n.439C>G
c.559+1947C>G (n.559+1947C>G)
c.644C>G (p.Pro215Arg)
c.911C>G (p.Pro304Arg)
c.869C>G (p.Pro290Arg)
c.767C>G (p.Pro256Arg)
c.763-32C>G (n.763-32C>G)
c.572C>G (p.Pro191Arg)
1g.173909917G>TCA343774769SERPINC1c.788C>A (p.Pro263His)
n.439C>A
c.559+1947C>A (n.559+1947C>A)
c.644C>A (p.Pro215His)
c.911C>A (p.Pro304His)
c.869C>A (p.Pro290His)
c.767C>A (p.Pro256His)
c.763-32C>A (n.763-32C>A)
c.572C>A (p.Pro191His)
1g.173909919delCA2586964409SERPINC1c.788del (p.Pro263LeufsTer21)
n.439del
c.559+1947del (n.559+1947del)
c.644del (p.Pro215LeufsTer21)
c.911del (p.Pro304LeufsTer21)
c.869del (p.Pro290LeufsTer21)
c.767del (p.Pro256LeufsTer21)
c.763-32del (n.763-32del)
c.572del (p.Pro191LeufsTer21)
1g.173909918G>ACA343774770SERPINC1c.787C>T (p.Pro263Ser)
n.438C>T
c.559+1946C>T (n.559+1946C>T)
c.643C>T (p.Pro215Ser)
c.910C>T (p.Pro304Ser)
c.868C>T (p.Pro290Ser)
c.766C>T (p.Pro256Ser)
c.763-33C>T (n.763-33C>T)
c.571C>T (p.Pro191Ser)
1g.173909918G>CCA343774772SERPINC1c.787C>G (p.Pro263Ala)
n.438C>G
c.559+1946C>G (n.559+1946C>G)
c.643C>G (p.Pro215Ala)
c.910C>G (p.Pro304Ala)
c.868C>G (p.Pro290Ala)
c.766C>G (p.Pro256Ala)
c.763-33C>G (n.763-33C>G)
c.571C>G (p.Pro191Ala)
1g.173909918G>TCA343774771SERPINC1c.787C>A (p.Pro263Thr)
n.438C>A
c.559+1946C>A (n.559+1946C>A)
c.643C>A (p.Pro215Thr)
c.910C>A (p.Pro304Thr)
c.868C>A (p.Pro290Thr)
c.766C>A (p.Pro256Thr)
c.763-33C>A (n.763-33C>A)
c.571C>A (p.Pro191Thr)
1g.173909919G>ACA421942818SERPINC1c.786C>T (p.Ser262=)
n.437C>T
c.559+1945C>T (n.559+1945C>T)
c.642C>T (p.Ser214=)
c.909C>T (p.Ser303=)
c.867C>T (p.Ser289=)
c.765C>T (p.Ser255=)
c.763-34C>T (n.763-34C>T)
c.570C>T (p.Ser190=)
 gnomAD v4
1g.173909919G>CCA343774773SERPINC1c.786C>G (p.Ser262Arg)
n.437C>G
c.559+1945C>G (n.559+1945C>G)
c.642C>G (p.Ser214Arg)
c.909C>G (p.Ser303Arg)
c.867C>G (p.Ser289Arg)
c.765C>G (p.Ser255Arg)
c.763-34C>G (n.763-34C>G)
c.570C>G (p.Ser190Arg)
1g.173909919G>TCA343774774SERPINC1c.786C>A (p.Ser262Arg)
n.437C>A
c.559+1945C>A (n.559+1945C>A)
c.642C>A (p.Ser214Arg)
c.909C>A (p.Ser303Arg)
c.867C>A (p.Ser289Arg)
c.765C>A (p.Ser255Arg)
c.763-34C>A (n.763-34C>A)
c.570C>A (p.Ser190Arg)
1g.173909920C>ACA343774775SERPINC1c.785G>T (p.Ser262Ile)
n.436G>T
c.559+1944G>T (n.559+1944G>T)
c.641G>T (p.Ser214Ile)
c.908G>T (p.Ser303Ile)
c.866G>T (p.Ser289Ile)
c.764G>T (p.Ser255Ile)
c.763-35G>T (n.763-35G>T)
c.569G>T (p.Ser190Ile)
1g.173909920C>GCA343774776SERPINC1c.785G>C (p.Ser262Thr)
n.436G>C
c.559+1944G>C (n.559+1944G>C)
c.641G>C (p.Ser214Thr)
c.908G>C (p.Ser303Thr)
c.866G>C (p.Ser289Thr)
c.764G>C (p.Ser255Thr)
c.763-35G>C (n.763-35G>C)
c.569G>C (p.Ser190Thr)
1g.173909920C>TCA343774777SERPINC1c.785G>A (p.Ser262Asn)
n.436G>A
c.559+1944G>A (n.559+1944G>A)
c.641G>A (p.Ser214Asn)
c.908G>A (p.Ser303Asn)
c.866G>A (p.Ser289Asn)
c.764G>A (p.Ser255Asn)
c.763-35G>A (n.763-35G>A)
c.569G>A (p.Ser190Asn)
1g.173909921T>ACA343774779SERPINC1c.784A>T (p.Ser262Cys)
n.435A>T
c.559+1943A>T (n.559+1943A>T)
c.640A>T (p.Ser214Cys)
c.907A>T (p.Ser303Cys)
c.865A>T (p.Ser289Cys)
c.763A>T (p.Ser255Cys)
c.763-36A>T (n.763-36A>T)
c.568A>T (p.Ser190Cys)
1g.173909921T>CCA1251333SERPINC1c.784A>G (p.Ser262Gly)
n.435A>G
c.559+1943A>G (n.559+1943A>G)
c.640A>G (p.Ser214Gly)
c.907A>G (p.Ser303Gly)
c.865A>G (p.Ser289Gly)
c.763A>G (p.Ser255Gly)
c.763-36A>G (n.763-36A>G)
c.568A>G (p.Ser190Gly)
 dbSNP ExAC gnomAD v2
1g.173909921T>GCA343774778SERPINC1c.784A>C (p.Ser262Arg)
n.435A>C
c.559+1943A>C (n.559+1943A>C)
c.640A>C (p.Ser214Arg)
c.907A>C (p.Ser303Arg)
c.865A>C (p.Ser289Arg)
c.763A>C (p.Ser255Arg)
c.763-36A>C (n.763-36A>C)
c.568A>C (p.Ser190Arg)
1g.173909921T=CA1207937046SERPINC1c.784A= (p.Ser262=)
n.435A=
c.559+1943A= (n.559+1943A=)
c.640A= (p.Ser214=)
c.907A= (p.Ser303=)
c.865A= (p.Ser289=)
c.763A= (p.Ser255=)
c.763-36A= (n.763-36A=)
c.568A= (p.Ser190=)
1g.173909922G>ACA421942819SERPINC1c.783C>T (p.Phe261=)
n.434C>T
c.559+1942C>T (n.559+1942C>T)
c.639C>T (p.Phe213=)
c.906C>T (p.Phe302=)
c.864C>T (p.Phe288=)
c.762C>T (p.Phe254=)
c.763-37C>T (n.763-37C>T)
c.567C>T (p.Phe189=)
1g.173909922G>CCA343774780SERPINC1c.783C>G (p.Phe261Leu)
n.434C>G
c.559+1942C>G (n.559+1942C>G)
c.639C>G (p.Phe213Leu)
c.906C>G (p.Phe302Leu)
c.864C>G (p.Phe288Leu)
c.762C>G (p.Phe254Leu)
c.763-37C>G (n.763-37C>G)
c.567C>G (p.Phe189Leu)
1g.173909922G>TCA343774781SERPINC1c.783C>A (p.Phe261Leu)
n.434C>A
c.559+1942C>A (n.559+1942C>A)
c.639C>A (p.Phe213Leu)
c.906C>A (p.Phe302Leu)
c.864C>A (p.Phe288Leu)
c.762C>A (p.Phe254Leu)
c.763-37C>A (n.763-37C>A)
c.567C>A (p.Phe189Leu)
1g.173909923A>CCA343774782SERPINC1c.782T>G (p.Phe261Cys)
n.433T>G
c.559+1941T>G (n.559+1941T>G)
c.638T>G (p.Phe213Cys)
c.905T>G (p.Phe302Cys)
c.863T>G (p.Phe288Cys)
c.761T>G (p.Phe254Cys)
c.763-38T>G (n.763-38T>G)
c.566T>G (p.Phe189Cys)
1g.173909923A>GCA343774783SERPINC1c.782T>C (p.Phe261Ser)
n.433T>C
c.559+1941T>C (n.559+1941T>C)
c.638T>C (p.Phe213Ser)
c.905T>C (p.Phe302Ser)
c.863T>C (p.Phe288Ser)
c.761T>C (p.Phe254Ser)
c.763-38T>C (n.763-38T>C)
c.566T>C (p.Phe189Ser)
1g.173909923A>TCA343774784SERPINC1c.782T>A (p.Phe261Tyr)
n.433T>A
c.559+1941T>A (n.559+1941T>A)
c.638T>A (p.Phe213Tyr)
c.905T>A (p.Phe302Tyr)
c.863T>A (p.Phe288Tyr)
c.761T>A (p.Phe254Tyr)
c.763-38T>A (n.763-38T>A)
c.566T>A (p.Phe189Tyr)
1g.173909924A>CCA343774785SERPINC1c.781T>G (p.Phe261Val)
n.432T>G
c.559+1940T>G (n.559+1940T>G)
c.637T>G (p.Phe213Val)
c.904T>G (p.Phe302Val)
c.862T>G (p.Phe288Val)
c.760T>G (p.Phe254Val)
c.763-39T>G (n.763-39T>G)
c.565T>G (p.Phe189Val)
1g.173909924A>GCA343774786SERPINC1c.781T>C (p.Phe261Leu)
n.432T>C
c.559+1940T>C (n.559+1940T>C)
c.637T>C (p.Phe213Leu)
c.904T>C (p.Phe302Leu)
c.862T>C (p.Phe288Leu)
c.760T>C (p.Phe254Leu)
c.763-39T>C (n.763-39T>C)
c.565T>C (p.Phe189Leu)
 COSMIC
1g.173909924A>TCA343774787SERPINC1c.781T>A (p.Phe261Ile)
n.432T>A
c.559+1940T>A (n.559+1940T>A)
c.637T>A (p.Phe213Ile)
c.904T>A (p.Phe302Ile)
c.862T>A (p.Phe288Ile)
c.760T>A (p.Phe254Ile)
c.763-39T>A (n.763-39T>A)
c.565T>A (p.Phe189Ile)
1g.173909925C>ACA343774788SERPINC1c.780G>T (p.Lys260Asn)
n.431G>T
c.559+1939G>T (n.559+1939G>T)
c.636G>T (p.Lys212Asn)
c.903G>T (p.Lys301Asn)
c.861G>T (p.Lys287Asn)
c.759G>T (p.Lys253Asn)
c.763-40G>T (n.763-40G>T)
c.564G>T (p.Lys188Asn)
1g.173909925C=CA1207937047SERPINC1c.780G= (p.Lys260=)
n.431G=
c.559+1939G= (n.559+1939G=)
c.636G= (p.Lys212=)
c.903G= (p.Lys301=)
c.861G= (p.Lys287=)
c.759G= (p.Lys253=)
c.763-40G= (n.763-40G=)
c.564G= (p.Lys188=)
1g.173909925C>GCA343774789SERPINC1c.780G>C (p.Lys260Asn)
n.431G>C
c.559+1939G>C (n.559+1939G>C)
c.636G>C (p.Lys212Asn)
c.903G>C (p.Lys301Asn)
c.861G>C (p.Lys287Asn)
c.759G>C (p.Lys253Asn)
c.763-40G>C (n.763-40G>C)
c.564G>C (p.Lys188Asn)
1g.173909925C>TCA421942821SERPINC1c.780G>A (p.Lys260=)
n.431G>A
c.559+1939G>A (n.559+1939G>A)
c.636G>A (p.Lys212=)
c.903G>A (p.Lys301=)
c.861G>A (p.Lys287=)
c.759G>A (p.Lys253=)
c.763-40G>A (n.763-40G>A)
c.564G>A (p.Lys188=)
1g.173909926T>ACA343774790SERPINC1c.779A>T (p.Lys260Met)
n.430A>T
c.559+1938A>T (n.559+1938A>T)
c.635A>T (p.Lys212Met)
c.902A>T (p.Lys301Met)
c.860A>T (p.Lys287Met)
c.758A>T (p.Lys253Met)
c.763-41A>T (n.763-41A>T)
c.563A>T (p.Lys188Met)
1g.173909926T>CCA343774791SERPINC1c.779A>G (p.Lys260Arg)
n.430A>G
c.559+1938A>G (n.559+1938A>G)
c.635A>G (p.Lys212Arg)
c.902A>G (p.Lys301Arg)
c.860A>G (p.Lys287Arg)
c.758A>G (p.Lys253Arg)
c.763-41A>G (n.763-41A>G)
c.563A>G (p.Lys188Arg)
 gnomAD v4
1g.173909926T>GCA343774792SERPINC1c.779A>C (p.Lys260Thr)
n.430A>C
c.559+1938A>C (n.559+1938A>C)
c.635A>C (p.Lys212Thr)
c.902A>C (p.Lys301Thr)
c.860A>C (p.Lys287Thr)
c.758A>C (p.Lys253Thr)
c.763-41A>C (n.763-41A>C)
c.563A>C (p.Lys188Thr)
1g.173909928dupCA913184807SERPINC1c.779dup (p.Phe261ValfsTer4)
n.430dup
c.559+1938dup (n.559+1938dup)
c.635dup (p.Phe213ValfsTer4)
c.902dup (p.Phe302ValfsTer4)
c.860dup (p.Phe288ValfsTer4)
c.758dup (p.Phe254ValfsTer4)
c.763-41dup (n.763-41dup)
c.563dup (p.Phe189ValfsTer4)
 ClinVar dbSNP
1g.173909927_173909928dupCA2649174147SERPINC1c.778_779dup (p.Phe261SerfsTer24)
n.429_430dup
c.559+1937_559+1938dup (n.559+1937_559+1938dup)
c.634_635dup (p.Phe213SerfsTer24)
c.901_902dup (p.Phe302SerfsTer24)
c.859_860dup (p.Phe288SerfsTer24)
c.757_758dup (p.Phe254SerfsTer24)
c.763-42_763-41dup (n.763-42_763-41dup)
c.562_563dup (p.Phe189SerfsTer24)
 gnomAD v4
1g.173909927T>ACA343774795SERPINC1c.778A>T (p.Lys260Ter)
n.429A>T
c.559+1937A>T (n.559+1937A>T)
c.634A>T (p.Lys212Ter)
c.901A>T (p.Lys301Ter)
c.859A>T (p.Lys287Ter)
c.757A>T (p.Lys253Ter)
c.763-42A>T (n.763-42A>T)
c.562A>T (p.Lys188Ter)
 ClinVar
1g.173909927T>CCA343774794SERPINC1c.778A>G (p.Lys260Glu)
n.429A>G
c.559+1937A>G (n.559+1937A>G)
c.634A>G (p.Lys212Glu)
c.901A>G (p.Lys301Glu)
c.859A>G (p.Lys287Glu)
c.757A>G (p.Lys253Glu)
c.763-42A>G (n.763-42A>G)
c.562A>G (p.Lys188Glu)
1g.173909927T>GCA343774793SERPINC1c.778A>C (p.Lys260Gln)
n.429A>C
c.559+1937A>C (n.559+1937A>C)
c.634A>C (p.Lys212Gln)
c.901A>C (p.Lys301Gln)
c.859A>C (p.Lys287Gln)
c.757A>C (p.Lys253Gln)
c.763-42A>C (n.763-42A>C)
c.562A>C (p.Lys188Gln)
1g.173909928_173909929insCTTCA2586964410SERPINC1c.778_779insGAA (p.Ser259_Lys260insArg)
n.429_430insGAA
c.559+1937_559+1938insGAA (n.559+1937_559+1938insGAA)
c.634_635insGAA (p.Ser211_Lys212insArg)
c.901_902insGAA (p.Ser300_Lys301insArg)
c.859_860insGAA (p.Ser286_Lys287insArg)
c.757_758insGAA (p.Ser252_Lys253insArg)
c.763-42_763-41insGAA (n.763-42_763-41insGAA)
c.562_563insGAA (p.Ser187_Lys188insArg)
1g.173909928T>ACA421942823SERPINC1c.777A>T (p.Ser259=)
n.428A>T
c.559+1936A>T (n.559+1936A>T)
c.633A>T (p.Ser211=)
c.900A>T (p.Ser300=)
c.858A>T (p.Ser286=)
c.756A>T (p.Ser252=)
c.763-43A>T (n.763-43A>T)
c.561A>T (p.Ser187=)
1g.173909928T>CCA1251334SERPINC1c.777A>G (p.Ser259=)
n.428A>G
c.559+1936A>G (n.559+1936A>G)
c.633A>G (p.Ser211=)
c.900A>G (p.Ser300=)
c.858A>G (p.Ser286=)
c.756A>G (p.Ser252=)
c.763-43A>G (n.763-43A>G)
c.561A>G (p.Ser187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909928T>GCA421942824SERPINC1c.777A>C (p.Ser259=)
n.428A>C
c.559+1936A>C (n.559+1936A>C)
c.633A>C (p.Ser211=)
c.900A>C (p.Ser300=)
c.858A>C (p.Ser286=)
c.756A>C (p.Ser252=)
c.763-43A>C (n.763-43A>C)
c.561A>C (p.Ser187=)
 ClinVar dbSNP gnomAD v4
1g.173909928T=CA1148426553SERPINC1c.777A= (p.Ser259=)
n.428A=
c.559+1936A= (n.559+1936A=)
c.633A= (p.Ser211=)
c.900A= (p.Ser300=)
c.858A= (p.Ser286=)
c.756A= (p.Ser252=)
c.763-43A= (n.763-43A=)
c.561A= (p.Ser187=)
1g.173909929G>ACA343774796SERPINC1c.776C>T (p.Ser259Leu)
n.427C>T
c.559+1935C>T (n.559+1935C>T)
c.632C>T (p.Ser211Leu)
c.899C>T (p.Ser300Leu)
c.857C>T (p.Ser286Leu)
c.755C>T (p.Ser252Leu)
c.763-44C>T (n.763-44C>T)
c.560C>T (p.Ser187Leu)
 dbSNP
1g.173909929G>CCA343774797SERPINC1c.776C>G (p.Ser259Ter)
n.427C>G
c.559+1935C>G (n.559+1935C>G)
c.632C>G (p.Ser211Ter)
c.899C>G (p.Ser300Ter)
c.857C>G (p.Ser286Ter)
c.755C>G (p.Ser252Ter)
c.763-44C>G (n.763-44C>G)
c.560C>G (p.Ser187Ter)
 COSMIC
1g.173909929G>TCA343774798SERPINC1c.776C>A (p.Ser259Ter)
n.427C>A
c.559+1935C>A (n.559+1935C>A)
c.632C>A (p.Ser211Ter)
c.899C>A (p.Ser300Ter)
c.857C>A (p.Ser286Ter)
c.755C>A (p.Ser252Ter)
c.763-44C>A (n.763-44C>A)
c.560C>A (p.Ser187Ter)
1g.173909930A>CCA343774799SERPINC1c.775T>G (p.Ser259Ala)
n.426T>G
c.559+1934T>G (n.559+1934T>G)
c.631T>G (p.Ser211Ala)
c.898T>G (p.Ser300Ala)
c.856T>G (p.Ser286Ala)
c.754T>G (p.Ser252Ala)
c.763-45T>G (n.763-45T>G)
c.559T>G (p.Ser187Ala)
1g.173909930A>GCA343774800SERPINC1c.775T>C (p.Ser259Pro)
n.426T>C
c.559+1934T>C (n.559+1934T>C)
c.631T>C (p.Ser211Pro)
c.898T>C (p.Ser300Pro)
c.856T>C (p.Ser286Pro)
c.754T>C (p.Ser252Pro)
c.763-45T>C (n.763-45T>C)
c.559T>C (p.Ser187Pro)
1g.173909930A>TCA343774801SERPINC1c.775T>A (p.Ser259Thr)
n.426T>A
c.559+1934T>A (n.559+1934T>A)
c.631T>A (p.Ser211Thr)
c.898T>A (p.Ser300Thr)
c.856T>A (p.Ser286Thr)
c.754T>A (p.Ser252Thr)
c.763-45T>A (n.763-45T>A)
c.559T>A (p.Ser187Thr)
1g.173909931C>ACA343774802SERPINC1c.774G>T (p.Lys258Asn)
n.425G>T
c.559+1933G>T (n.559+1933G>T)
c.630G>T (p.Lys210Asn)
c.897G>T (p.Lys299Asn)
c.855G>T (p.Lys285Asn)
c.753G>T (p.Lys251Asn)
c.763-46G>T (n.763-46G>T)
c.558G>T (p.Lys186Asn)
1g.173909931C=CA1207937048SERPINC1c.774G= (p.Lys258=)
n.425G=
c.559+1933G= (n.559+1933G=)
c.630G= (p.Lys210=)
c.897G= (p.Lys299=)
c.855G= (p.Lys285=)
c.753G= (p.Lys251=)
c.763-46G= (n.763-46G=)
c.558G= (p.Lys186=)
1g.173909931C>GCA343774803SERPINC1c.774G>C (p.Lys258Asn)
n.425G>C
c.559+1933G>C (n.559+1933G>C)
c.630G>C (p.Lys210Asn)
c.897G>C (p.Lys299Asn)
c.855G>C (p.Lys285Asn)
c.753G>C (p.Lys251Asn)
c.763-46G>C (n.763-46G>C)
c.558G>C (p.Lys186Asn)
1g.173909931C>TCA32780452SERPINC1c.774G>A (p.Lys258=)
n.425G>A
c.559+1933G>A (n.559+1933G>A)
c.630G>A (p.Lys210=)
c.897G>A (p.Lys299=)
c.855G>A (p.Lys285=)
c.753G>A (p.Lys251=)
c.763-46G>A (n.763-46G>A)
c.558G>A (p.Lys186=)
 dbSNP gnomAD v2 gnomAD v4
1g.173909932T>ACA343774804SERPINC1c.773A>T (p.Lys258Met)
n.424A>T
c.559+1932A>T (n.559+1932A>T)
c.629A>T (p.Lys210Met)
c.896A>T (p.Lys299Met)
c.854A>T (p.Lys285Met)
c.752A>T (p.Lys251Met)
c.763-47A>T (n.763-47A>T)
c.557A>T (p.Lys186Met)
1g.173909932T>CCA343774805SERPINC1c.773A>G (p.Lys258Arg)
n.424A>G
c.559+1932A>G (n.559+1932A>G)
c.629A>G (p.Lys210Arg)
c.896A>G (p.Lys299Arg)
c.854A>G (p.Lys285Arg)
c.752A>G (p.Lys251Arg)
c.763-47A>G (n.763-47A>G)
c.557A>G (p.Lys186Arg)
1g.173909932T>GCA343774806SERPINC1c.773A>C (p.Lys258Thr)
n.424A>C
c.559+1932A>C (n.559+1932A>C)
c.629A>C (p.Lys210Thr)
c.896A>C (p.Lys299Thr)
c.854A>C (p.Lys285Thr)
c.752A>C (p.Lys251Thr)
c.763-47A>C (n.763-47A>C)
c.557A>C (p.Lys186Thr)
1g.173909933T>ACA343774809SERPINC1c.772A>T (p.Lys258Ter)
n.423A>T
c.559+1931A>T (n.559+1931A>T)
c.628A>T (p.Lys210Ter)
c.895A>T (p.Lys299Ter)
c.853A>T (p.Lys285Ter)
c.751A>T (p.Lys251Ter)
c.763-48A>T (n.763-48A>T)
c.556A>T (p.Lys186Ter)
1g.173909933T>CCA343774808SERPINC1c.772A>G (p.Lys258Glu)
n.423A>G
c.559+1931A>G (n.559+1931A>G)
c.628A>G (p.Lys210Glu)
c.895A>G (p.Lys299Glu)
c.853A>G (p.Lys285Glu)
c.751A>G (p.Lys251Glu)
c.763-48A>G (n.763-48A>G)
c.556A>G (p.Lys186Glu)
1g.173909933T>GCA343774807SERPINC1c.772A>C (p.Lys258Gln)
n.423A>C
c.559+1931A>C (n.559+1931A>C)
c.628A>C (p.Lys210Gln)
c.895A>C (p.Lys299Gln)
c.853A>C (p.Lys285Gln)
c.751A>C (p.Lys251Gln)
c.763-48A>C (n.763-48A>C)
c.556A>C (p.Lys186Gln)
1g.173909933_173909934delinsTCCA1207937049SERPINC1c.771_772delinsGA (p.Trp257=)
n.422_423delinsGA
c.559+1930_559+1931delinsGA (n.559+1930_559+1931delinsGA)
c.627_628delinsGA (p.Trp209=)
c.894_895delinsGA (p.Trp298=)
c.852_853delinsGA (p.Trp284=)
c.750_751delinsGA (p.Trp250=)
c.763-49_763-48delinsGA (n.763-49_763-48delinsGA)
c.555_556delinsGA (p.Trp185=)
1g.173909934C>ACA343774810SERPINC1c.771G>T (p.Trp257Cys)
n.422G>T
c.559+1930G>T (n.559+1930G>T)
c.627G>T (p.Trp209Cys)
c.894G>T (p.Trp298Cys)
c.852G>T (p.Trp284Cys)
c.750G>T (p.Trp250Cys)
c.763-49G>T (n.763-49G>T)
c.555G>T (p.Trp185Cys)
1g.173909934C>GCA343774811SERPINC1c.771G>C (p.Trp257Cys)
n.422G>C
c.559+1930G>C (n.559+1930G>C)
c.627G>C (p.Trp209Cys)
c.894G>C (p.Trp298Cys)
c.852G>C (p.Trp284Cys)
c.750G>C (p.Trp250Cys)
c.763-49G>C (n.763-49G>C)
c.555G>C (p.Trp185Cys)
1g.173909934C>TCA343774812SERPINC1c.771G>A (p.Trp257Ter)
n.422G>A
c.559+1930G>A (n.559+1930G>A)
c.627G>A (p.Trp209Ter)
c.894G>A (p.Trp298Ter)
c.852G>A (p.Trp284Ter)
c.750G>A (p.Trp250Ter)
c.763-49G>A (n.763-49G>A)
c.555G>A (p.Trp185Ter)
1g.173909935dupCA2649174155SERPINC1c.771dup (p.Lys258GlufsTer7)
n.422dup
c.559+1930dup (n.559+1930dup)
c.627dup (p.Lys210GlufsTer7)
c.894dup (p.Lys299GlufsTer7)
c.852dup (p.Lys285GlufsTer7)
c.750dup (p.Lys251GlufsTer7)
c.763-49dup (n.763-49dup)
c.555dup (p.Lys186GlufsTer7)
 gnomAD v4
1g.173909935delCA915943671SERPINC1c.771del (p.Trp257Ter)
n.422del
c.559+1930del (n.559+1930del)
c.627del (p.Trp209Ter)
c.894del (p.Trp298Ter)
c.852del (p.Trp284Ter)
c.750del (p.Trp250Ter)
c.763-49del (n.763-49del)
c.555del (p.Trp185Ter)
 ClinVar dbSNP
1g.173909935C>ACA343774813SERPINC1c.770G>T (p.Trp257Leu)
n.421G>T
c.559+1929G>T (n.559+1929G>T)
c.626G>T (p.Trp209Leu)
c.893G>T (p.Trp298Leu)
c.851G>T (p.Trp284Leu)
c.749G>T (p.Trp250Leu)
c.763-50G>T (n.763-50G>T)
c.554G>T (p.Trp185Leu)
1g.173909935C>GCA343774814SERPINC1c.770G>C (p.Trp257Ser)
n.421G>C
c.559+1929G>C (n.559+1929G>C)
c.626G>C (p.Trp209Ser)
c.893G>C (p.Trp298Ser)
c.851G>C (p.Trp284Ser)
c.749G>C (p.Trp250Ser)
c.763-50G>C (n.763-50G>C)
c.554G>C (p.Trp185Ser)
1g.173909935C>TCA343774815SERPINC1c.770G>A (p.Trp257Ter)
n.421G>A
c.559+1929G>A (n.559+1929G>A)
c.626G>A (p.Trp209Ter)
c.893G>A (p.Trp298Ter)
c.851G>A (p.Trp284Ter)
c.749G>A (p.Trp250Ter)
c.763-50G>A (n.763-50G>A)
c.554G>A (p.Trp185Ter)
1g.173909936A>CCA343774816SERPINC1c.769T>G (p.Trp257Gly)
n.420T>G
c.559+1928T>G (n.559+1928T>G)
c.625T>G (p.Trp209Gly)
c.892T>G (p.Trp298Gly)
c.850T>G (p.Trp284Gly)
c.748T>G (p.Trp250Gly)
c.763-51T>G (n.763-51T>G)
c.553T>G (p.Trp185Gly)
1g.173909936A>GCA343774817SERPINC1c.769T>C (p.Trp257Arg)
n.420T>C
c.559+1928T>C (n.559+1928T>C)
c.625T>C (p.Trp209Arg)
c.892T>C (p.Trp298Arg)
c.850T>C (p.Trp284Arg)
c.748T>C (p.Trp250Arg)
c.763-51T>C (n.763-51T>C)
c.553T>C (p.Trp185Arg)
 ClinVar
1g.173909936A>TCA343774818SERPINC1c.769T>A (p.Trp257Arg)
n.420T>A
c.559+1928T>A (n.559+1928T>A)
c.625T>A (p.Trp209Arg)
c.892T>A (p.Trp298Arg)
c.850T>A (p.Trp284Arg)
c.748T>A (p.Trp250Arg)
c.763-51T>A (n.763-51T>A)
c.553T>A (p.Trp185Arg)
1g.173909937C>ACA421942830SERPINC1c.768G>T (p.Leu256=)
n.419G>T
c.559+1927G>T (n.559+1927G>T)
c.624G>T (p.Leu208=)
c.891G>T (p.Leu297=)
c.849G>T (p.Leu283=)
c.747G>T (p.Leu249=)
c.763-52G>T (n.763-52G>T)
c.552G>T (p.Leu184=)
1g.173909937C>GCA421942833SERPINC1c.768G>C (p.Leu256=)
n.419G>C
c.559+1927G>C (n.559+1927G>C)
c.624G>C (p.Leu208=)
c.891G>C (p.Leu297=)
c.849G>C (p.Leu283=)
c.747G>C (p.Leu249=)
c.763-52G>C (n.763-52G>C)
c.552G>C (p.Leu184=)
1g.173909937C>TCA421942831SERPINC1c.768G>A (p.Leu256=)
n.419G>A
c.559+1927G>A (n.559+1927G>A)
c.624G>A (p.Leu208=)
c.891G>A (p.Leu297=)
c.849G>A (p.Leu283=)
c.747G>A (p.Leu249=)
c.763-52G>A (n.763-52G>A)
c.552G>A (p.Leu184=)
1g.173909938A=CA1207937050SERPINC1c.767T= (p.Leu256=)
n.418T=
c.559+1926T= (n.559+1926T=)
c.623T= (p.Leu208=)
c.890T= (p.Leu297=)
c.848T= (p.Leu283=)
c.746T= (p.Leu249=)
c.763-53T= (n.763-53T=)
c.551T= (p.Leu184=)
1g.173909938A>CCA343774819SERPINC1c.767T>G (p.Leu256Arg)
n.418T>G
c.559+1926T>G (n.559+1926T>G)
c.623T>G (p.Leu208Arg)
c.890T>G (p.Leu297Arg)
c.848T>G (p.Leu283Arg)
c.746T>G (p.Leu249Arg)
c.763-53T>G (n.763-53T>G)
c.551T>G (p.Leu184Arg)
1g.173909938A>GCA343774820SERPINC1c.767T>C (p.Leu256Pro)
n.418T>C
c.559+1926T>C (n.559+1926T>C)
c.623T>C (p.Leu208Pro)
c.890T>C (p.Leu297Pro)
c.848T>C (p.Leu283Pro)
c.746T>C (p.Leu249Pro)
c.763-53T>C (n.763-53T>C)
c.551T>C (p.Leu184Pro)
 dbSNP gnomAD v2
1g.173909938A>TCA343774821SERPINC1c.767T>A (p.Leu256Gln)
n.418T>A
c.559+1926T>A (n.559+1926T>A)
c.623T>A (p.Leu208Gln)
c.890T>A (p.Leu297Gln)
c.848T>A (p.Leu283Gln)
c.746T>A (p.Leu249Gln)
c.763-53T>A (n.763-53T>A)
c.551T>A (p.Leu184Gln)
1g.173909938dupCA2580007607SERPINC1c.767dup (p.Trp257ValfsTer8)
n.418dup
c.559+1926dup (n.559+1926dup)
c.623dup (p.Trp209ValfsTer8)
c.890dup (p.Trp298ValfsTer8)
c.848dup (p.Trp284ValfsTer8)
c.746dup (p.Trp250ValfsTer8)
c.763-53dup (n.763-53dup)
c.551dup (p.Trp185ValfsTer8)
1g.173909938_173909939delinsAGCA1207937051SERPINC1c.766_767delinsCT (p.Leu256=)
n.417_418delinsCT
c.559+1925_559+1926delinsCT (n.559+1925_559+1926delinsCT)
c.622_623delinsCT (p.Leu208=)
c.889_890delinsCT (p.Leu297=)
c.847_848delinsCT (p.Leu283=)
c.745_746delinsCT (p.Leu249=)
c.763-54_763-53delinsCT (n.763-54_763-53delinsCT)
c.550_551delinsCT (p.Leu184=)
1g.173909939G>ACA1251335SERPINC1c.766C>T (p.Leu256=)
n.417C>T
c.559+1925C>T (n.559+1925C>T)
c.622C>T (p.Leu208=)
c.889C>T (p.Leu297=)
c.847C>T (p.Leu283=)
c.745C>T (p.Leu249=)
c.763-54C>T (n.763-54C>T)
c.550C>T (p.Leu184=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909939G>CCA343774823SERPINC1c.766C>G (p.Leu256Val)
n.417C>G
c.559+1925C>G (n.559+1925C>G)
c.622C>G (p.Leu208Val)
c.889C>G (p.Leu297Val)
c.847C>G (p.Leu283Val)
c.745C>G (p.Leu249Val)
c.763-54C>G (n.763-54C>G)
c.550C>G (p.Leu184Val)
1g.173909939G=CA1207937052SERPINC1c.766C= (p.Leu256=)
n.417C=
c.559+1925C= (n.559+1925C=)
c.622C= (p.Leu208=)
c.889C= (p.Leu297=)
c.847C= (p.Leu283=)
c.745C= (p.Leu249=)
c.763-54C= (n.763-54C=)
c.550C= (p.Leu184=)
1g.173909939G>TCA343774822SERPINC1c.766C>A (p.Leu256Met)
n.417C>A
c.559+1925C>A (n.559+1925C>A)
c.622C>A (p.Leu208Met)
c.889C>A (p.Leu297Met)
c.847C>A (p.Leu283Met)
c.745C>A (p.Leu249Met)
c.763-54C>A (n.763-54C>A)
c.550C>A (p.Leu184Met)
1g.173909940delCA915943672SERPINC1c.766del (p.Leu256CysfsTer28)
n.417del
c.559+1925del (n.559+1925del)
c.622del (p.Leu208CysfsTer28)
c.889del (p.Leu297CysfsTer28)
c.847del (p.Leu283CysfsTer28)
c.745del (p.Leu249CysfsTer28)
c.763-54del (n.763-54del)
c.550del (p.Leu184CysfsTer28)
 ClinVar dbSNP
1g.173909940G>ACA421942834SERPINC1c.765C>T (p.Gly255=)
n.416C>T
c.559+1924C>T (n.559+1924C>T)
c.621C>T (p.Gly207=)
c.888C>T (p.Gly296=)
c.846C>T (p.Gly282=)
c.744C>T (p.Gly248=)
c.763-55C>T (n.763-55C>T)
c.549C>T (p.Gly183=)
 gnomAD v4
1g.173909940G>CCA421942835SERPINC1c.765C>G (p.Gly255=)
n.416C>G
c.559+1924C>G (n.559+1924C>G)
c.621C>G (p.Gly207=)
c.888C>G (p.Gly296=)
c.846C>G (p.Gly282=)
c.744C>G (p.Gly248=)
c.763-55C>G (n.763-55C>G)
c.549C>G (p.Gly183=)
1g.173909940G>TCA421942836SERPINC1c.765C>A (p.Gly255=)
n.416C>A
c.559+1924C>A (n.559+1924C>A)
c.621C>A (p.Gly207=)
c.888C>A (p.Gly296=)
c.846C>A (p.Gly282=)
c.744C>A (p.Gly248=)
c.763-55C>A (n.763-55C>A)
c.549C>A (p.Gly183=)
1g.173909941C>ACA343774824SERPINC1c.764G>T (p.Gly255Val)
n.415G>T
c.559+1923G>T (n.559+1923G>T)
c.620G>T (p.Gly207Val)
c.887G>T (p.Gly296Val)
c.845G>T (p.Gly282Val)
c.743G>T (p.Gly248Val)
c.763-56G>T (n.763-56G>T)
c.548G>T (p.Gly183Val)
1g.173909941C>GCA343774825SERPINC1c.764G>C (p.Gly255Ala)
n.415G>C
c.559+1923G>C (n.559+1923G>C)
c.620G>C (p.Gly207Ala)
c.887G>C (p.Gly296Ala)
c.845G>C (p.Gly282Ala)
c.743G>C (p.Gly248Ala)
c.763-56G>C (n.763-56G>C)
c.548G>C (p.Gly183Ala)
 gnomAD v4
1g.173909941C>TCA343774826SERPINC1c.764G>A (p.Gly255Asp)
n.415G>A
c.559+1923G>A (n.559+1923G>A)
c.620G>A (p.Gly207Asp)
c.887G>A (p.Gly296Asp)
c.845G>A (p.Gly282Asp)
c.743G>A (p.Gly248Asp)
c.763-56G>A (n.763-56G>A)
c.548G>A (p.Gly183Asp)
1g.173909942C>ACA343774827SERPINC1c.763G>T (p.Gly255Cys)
n.414G>T
c.559+1922G>T (n.559+1922G>T)
c.619G>T (p.Gly207Cys)
c.886G>T (p.Gly296Cys)
c.844G>T (p.Gly282Cys)
c.742G>T (p.Gly248Cys)
c.763-57G>T (n.763-57G>T)
c.547G>T (p.Gly183Cys)
1g.173909942C=CA1207937053SERPINC1c.763G= (p.Gly255=)
n.414G=
c.559+1922G= (n.559+1922G=)
c.619G= (p.Gly207=)
c.886G= (p.Gly296=)
c.844G= (p.Gly282=)
c.742G= (p.Gly248=)
c.763-57G= (n.763-57G=)
c.547G= (p.Gly183=)
1g.173909942C>GCA343774828SERPINC1c.763G>C (p.Gly255Arg)
n.414G>C
c.559+1922G>C (n.559+1922G>C)
c.619G>C (p.Gly207Arg)
c.886G>C (p.Gly296Arg)
c.844G>C (p.Gly282Arg)
c.742G>C (p.Gly248Arg)
c.763-57G>C (n.763-57G>C)
c.547G>C (p.Gly183Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.173909942C>TCA32780460SERPINC1c.763G>A (p.Gly255Ser)
n.414G>A
c.559+1922G>A (n.559+1922G>A)
c.619G>A (p.Gly207Ser)
c.886G>A (p.Gly296Ser)
c.844G>A (p.Gly282Ser)
c.742G>A (p.Gly248Ser)
c.763-57G>A (n.763-57G>A)
c.547G>A (p.Gly183Ser)
 dbSNP
1g.173909943C>ACA343774829SERPINC1c.763-1G>T (n.763-1G>T)
n.414-1G>T
c.559+1921G>T (n.559+1921G>T)
c.619-1G>T (n.619-1G>T)
c.886-1G>T (n.886-1G>T)
c.844-1G>T (n.844-1G>T)
c.742-1G>T (n.742-1G>T)
c.763-58G>T (n.763-58G>T)
c.547-1G>T (n.547-1G>T)
1g.173909943C>GCA343774830SERPINC1c.763-1G>C (n.763-1G>C)
n.414-1G>C
c.559+1921G>C (n.559+1921G>C)
c.619-1G>C (n.619-1G>C)
c.886-1G>C (n.886-1G>C)
c.844-1G>C (n.844-1G>C)
c.742-1G>C (n.742-1G>C)
c.763-58G>C (n.763-58G>C)
c.547-1G>C (n.547-1G>C)
1g.173909943C>TCA343774831SERPINC1c.763-1G>A (n.763-1G>A)
n.414-1G>A
c.559+1921G>A (n.559+1921G>A)
c.619-1G>A (n.619-1G>A)
c.886-1G>A (n.886-1G>A)
c.844-1G>A (n.844-1G>A)
c.742-1G>A (n.742-1G>A)
c.763-58G>A (n.763-58G>A)
c.547-1G>A (n.547-1G>A)
 COSMIC
1g.173909944T>ACA343774832SERPINC1c.763-2A>T (n.763-2A>T)
n.414-2A>T
c.559+1920A>T (n.559+1920A>T)
c.619-2A>T (n.619-2A>T)
c.886-2A>T (n.886-2A>T)
c.844-2A>T (n.844-2A>T)
c.742-2A>T (n.742-2A>T)
c.763-59A>T (n.763-59A>T)
c.547-2A>T (n.547-2A>T)
1g.173909944T>CCA343774833SERPINC1c.763-2A>G (n.763-2A>G)
n.414-2A>G
c.559+1920A>G (n.559+1920A>G)
c.619-2A>G (n.619-2A>G)
c.886-2A>G (n.886-2A>G)
c.844-2A>G (n.844-2A>G)
c.742-2A>G (n.742-2A>G)
c.763-59A>G (n.763-59A>G)
c.547-2A>G (n.547-2A>G)
1g.173909944T>GCA343774834SERPINC1c.763-2A>C (n.763-2A>C)
n.414-2A>C
c.559+1920A>C (n.559+1920A>C)
c.619-2A>C (n.619-2A>C)
c.886-2A>C (n.886-2A>C)
c.844-2A>C (n.844-2A>C)
c.742-2A>C (n.742-2A>C)
c.763-59A>C (n.763-59A>C)
c.547-2A>C (n.547-2A>C)
1g.173909945G>TCA2573953486SERPINC1c.763-3C>A (n.763-3C>A)
n.414-3C>A
c.559+1919C>A (n.559+1919C>A)
c.619-3C>A (n.619-3C>A)
c.886-3C>A (n.886-3C>A)
c.844-3C>A (n.844-3C>A)
c.742-3C>A (n.742-3C>A)
c.763-60C>A (n.763-60C>A)
c.547-3C>A (n.547-3C>A)
1g.173909947A=CA1207937054SERPINC1c.763-5T= (n.763-5T=)
n.414-5T=
c.559+1917T= (n.559+1917T=)
c.619-5T= (n.619-5T=)
c.886-5T= (n.886-5T=)
c.844-5T= (n.844-5T=)
c.742-5T= (n.742-5T=)
c.763-62T= (n.763-62T=)
c.547-5T= (n.547-5T=)
1g.173909947A>GCA1251336SERPINC1c.763-5T>C (n.763-5T>C)
n.414-5T>C
c.559+1917T>C (n.559+1917T>C)
c.619-5T>C (n.619-5T>C)
c.886-5T>C (n.886-5T>C)
c.844-5T>C (n.844-5T>C)
c.742-5T>C (n.742-5T>C)
c.763-62T>C (n.763-62T>C)
c.547-5T>C (n.547-5T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.173909948delCA2649174168SERPINC1c.763-5del (n.763-5del)
n.414-5del
c.559+1917del (n.559+1917del)
c.619-5del (n.619-5del)
c.886-5del (n.886-5del)
c.844-5del (n.844-5del)
c.742-5del (n.742-5del)
c.763-62del (n.763-62del)
c.547-5del (n.547-5del)
 gnomAD v4
1g.173909949G>ACA2649174172SERPINC1c.763-7C>T (n.763-7C>T)
n.414-7C>T
c.559+1915C>T (n.559+1915C>T)
c.619-7C>T (n.619-7C>T)
c.886-7C>T (n.886-7C>T)
c.844-7C>T (n.844-7C>T)
c.742-7C>T (n.742-7C>T)
c.763-64C>T (n.763-64C>T)
c.547-7C>T (n.547-7C>T)
 gnomAD v4
1g.173909950A>CCA2649174175SERPINC1c.763-8T>G (n.763-8T>G)
n.414-8T>G
c.559+1914T>G (n.559+1914T>G)
c.619-8T>G (n.619-8T>G)
c.886-8T>G (n.886-8T>G)
c.844-8T>G (n.844-8T>G)
c.742-8T>G (n.742-8T>G)
c.763-65T>G (n.763-65T>G)
c.547-8T>G (n.547-8T>G)
 gnomAD v4
1g.173909950A>GCA2649174177SERPINC1c.763-8T>C (n.763-8T>C)
n.414-8T>C
c.559+1914T>C (n.559+1914T>C)
c.619-8T>C (n.619-8T>C)
c.886-8T>C (n.886-8T>C)
c.844-8T>C (n.844-8T>C)
c.742-8T>C (n.742-8T>C)
c.763-65T>C (n.763-65T>C)
c.547-8T>C (n.547-8T>C)
 gnomAD v4
1g.173909951G>TCA2649174179SERPINC1c.763-9C>A (n.763-9C>A)
n.414-9C>A
c.559+1913C>A (n.559+1913C>A)
c.619-9C>A (n.619-9C>A)
c.886-9C>A (n.886-9C>A)
c.844-9C>A (n.844-9C>A)
c.742-9C>A (n.742-9C>A)
c.763-66C>A (n.763-66C>A)
c.547-9C>A (n.547-9C>A)
 gnomAD v4
1g.173909951_173909952delinsGACA1207937055SERPINC1c.763-10_763-9delinsTC (n.763-10_763-9delinsTC)
n.414-10_414-9delinsTC
c.559+1912_559+1913delinsTC (n.559+1912_559+1913delinsTC)
c.619-10_619-9delinsTC (n.619-10_619-9delinsTC)
c.886-10_886-9delinsTC (n.886-10_886-9delinsTC)
c.844-10_844-9delinsTC (n.844-10_844-9delinsTC)
c.742-10_742-9delinsTC (n.742-10_742-9delinsTC)
c.763-67_763-66delinsTC (n.763-67_763-66delinsTC)
c.547-10_547-9delinsTC (n.547-10_547-9delinsTC)
1g.173909953delCA1009277544SERPINC1c.763-10del (n.763-10del)
n.414-10del
c.559+1912del (n.559+1912del)
c.619-10del (n.619-10del)
c.886-10del (n.886-10del)
c.844-10del (n.844-10del)
c.742-10del (n.742-10del)
c.763-67del (n.763-67del)
c.547-10del (n.547-10del)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched