Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13025480G>ACA404315640NFIXc.484G>A (p.Val162Ile)
c.305G>A
c.487G>A (p.Val163Ile)
c.511G>A (p.Val171Ile)
c.496G>A (p.Val166Ile)
c.234+112G>A (n.234+112G>A)
c.463G>A (p.Val155Ile)
c.*318G>A (n.*318G>A)
c.346G>A (p.Val116Ile)
c.535G>A (p.Val179Ile)
c.664G>A (p.Val222Ile)
 gnomAD v4
19g.13025480G>CCA404315643NFIXc.484G>C (p.Val162Leu)
c.305G>C
c.487G>C (p.Val163Leu)
c.511G>C (p.Val171Leu)
c.496G>C (p.Val166Leu)
c.234+112G>C (n.234+112G>C)
c.463G>C (p.Val155Leu)
c.*318G>C (n.*318G>C)
c.346G>C (p.Val116Leu)
c.535G>C (p.Val179Leu)
c.664G>C (p.Val222Leu)
19g.13025480G>TCA404315645NFIXc.484G>T (p.Val162Phe)
c.305G>T
c.487G>T (p.Val163Phe)
c.511G>T (p.Val171Phe)
c.496G>T (p.Val166Phe)
c.234+112G>T (n.234+112G>T)
c.463G>T (p.Val155Phe)
c.*318G>T (n.*318G>T)
c.346G>T (p.Val116Phe)
c.535G>T (p.Val179Phe)
c.664G>T (p.Val222Phe)
 ClinVar dbSNP
19g.13025481T>ACA404315646NFIXc.485T>A (p.Val162Asp)
c.306T>A
c.488T>A (p.Val163Asp)
c.512T>A (p.Val171Asp)
c.497T>A (p.Val166Asp)
c.234+113T>A (n.234+113T>A)
c.464T>A (p.Val155Asp)
c.*319T>A (n.*319T>A)
c.347T>A (p.Val116Asp)
c.536T>A (p.Val179Asp)
c.665T>A (p.Val222Asp)
19g.13025481T>CCA404315648NFIXc.485T>C (p.Val162Ala)
c.306T>C
c.488T>C (p.Val163Ala)
c.512T>C (p.Val171Ala)
c.497T>C (p.Val166Ala)
c.234+113T>C (n.234+113T>C)
c.464T>C (p.Val155Ala)
c.*319T>C (n.*319T>C)
c.347T>C (p.Val116Ala)
c.536T>C (p.Val179Ala)
c.665T>C (p.Val222Ala)
19g.13025481T>GCA16043076NFIXc.485T>G (p.Val162Gly)
c.306T>G
c.488T>G (p.Val163Gly)
c.512T>G (p.Val171Gly)
c.497T>G (p.Val166Gly)
c.234+113T>G (n.234+113T>G)
c.464T>G (p.Val155Gly)
c.*319T>G (n.*319T>G)
c.347T>G (p.Val116Gly)
c.536T>G (p.Val179Gly)
c.665T>G (p.Val222Gly)
 ClinVar dbSNP
19g.13025481T=CA2323688957NFIXc.485T= (p.Val162=)
c.306T=
c.488T= (p.Val163=)
c.512T= (p.Val171=)
c.497T= (p.Val166=)
c.234+113T= (n.234+113T=)
c.464T= (p.Val155=)
c.*319T= (n.*319T=)
c.347T= (p.Val116=)
c.536T= (p.Val179=)
c.665T= (p.Val222=)
19g.13025482C>ACA505780879NFIXc.486C>A (p.Val162=)
c.307C>A
c.489C>A (p.Val163=)
c.513C>A (p.Val171=)
c.498C>A (p.Val166=)
c.234+114C>A (n.234+114C>A)
c.465C>A (p.Val155=)
c.*320C>A (n.*320C>A)
c.348C>A (p.Val116=)
c.537C>A (p.Val179=)
c.666C>A (p.Val222=)
19g.13025482C>GCA505780880NFIXc.486C>G (p.Val162=)
c.307C>G
c.489C>G (p.Val163=)
c.513C>G (p.Val171=)
c.498C>G (p.Val166=)
c.234+114C>G (n.234+114C>G)
c.465C>G (p.Val155=)
c.*320C>G (n.*320C>G)
c.348C>G (p.Val116=)
c.537C>G (p.Val179=)
c.666C>G (p.Val222=)
19g.13025482C>TCA505780881NFIXc.486C>T (p.Val162=)
c.307C>T
c.489C>T (p.Val163=)
c.513C>T (p.Val171=)
c.498C>T (p.Val166=)
c.234+114C>T (n.234+114C>T)
c.465C>T (p.Val155=)
c.*320C>T (n.*320C>T)
c.348C>T (p.Val116=)
c.537C>T (p.Val179=)
c.666C>T (p.Val222=)
19g.13025483C>ACA404315655NFIXc.487C>A (p.Gln163Lys)
c.308C>A
c.490C>A (p.Gln164Lys)
c.514C>A (p.Gln172Lys)
c.499C>A (p.Gln167Lys)
c.234+115C>A (n.234+115C>A)
c.466C>A (p.Gln156Lys)
c.*321C>A (n.*321C>A)
c.349C>A (p.Gln117Lys)
c.538C>A (p.Gln180Lys)
c.667C>A (p.Gln223Lys)
19g.13025483C>GCA404315652NFIXc.487C>G (p.Gln163Glu)
c.308C>G
c.490C>G (p.Gln164Glu)
c.514C>G (p.Gln172Glu)
c.499C>G (p.Gln167Glu)
c.234+115C>G (n.234+115C>G)
c.466C>G (p.Gln156Glu)
c.*321C>G (n.*321C>G)
c.349C>G (p.Gln117Glu)
c.538C>G (p.Gln180Glu)
c.667C>G (p.Gln223Glu)
19g.13025483C>TCA404315658NFIXc.487C>T (p.Gln163Ter)
c.308C>T
c.490C>T (p.Gln164Ter)
c.514C>T (p.Gln172Ter)
c.499C>T (p.Gln167Ter)
c.234+115C>T (n.234+115C>T)
c.466C>T (p.Gln156Ter)
c.*321C>T (n.*321C>T)
c.349C>T (p.Gln117Ter)
c.538C>T (p.Gln180Ter)
c.667C>T (p.Gln223Ter)
19g.13025484A>CCA404315660NFIXc.488A>C (p.Gln163Pro)
c.309A>C
c.491A>C (p.Gln164Pro)
c.515A>C (p.Gln172Pro)
c.500A>C (p.Gln167Pro)
c.234+116A>C (n.234+116A>C)
c.467A>C (p.Gln156Pro)
c.*322A>C (n.*322A>C)
c.350A>C (p.Gln117Pro)
c.539A>C (p.Gln180Pro)
c.668A>C (p.Gln223Pro)
19g.13025484A>GCA404315663NFIXc.488A>G (p.Gln163Arg)
c.309A>G
c.491A>G (p.Gln164Arg)
c.515A>G (p.Gln172Arg)
c.500A>G (p.Gln167Arg)
c.234+116A>G (n.234+116A>G)
c.467A>G (p.Gln156Arg)
c.*322A>G (n.*322A>G)
c.350A>G (p.Gln117Arg)
c.539A>G (p.Gln180Arg)
c.668A>G (p.Gln223Arg)
19g.13025484A>TCA404315665NFIXc.488A>T (p.Gln163Leu)
c.309A>T
c.491A>T (p.Gln164Leu)
c.515A>T (p.Gln172Leu)
c.500A>T (p.Gln167Leu)
c.234+116A>T (n.234+116A>T)
c.467A>T (p.Gln156Leu)
c.*322A>T (n.*322A>T)
c.350A>T (p.Gln117Leu)
c.539A>T (p.Gln180Leu)
c.668A>T (p.Gln223Leu)
19g.13025485G>ACA505780882NFIXc.489G>A (p.Gln163=)
c.310G>A
c.492G>A (p.Gln164=)
c.516G>A (p.Gln172=)
c.501G>A (p.Gln167=)
c.234+117G>A (n.234+117G>A)
c.468G>A (p.Gln156=)
c.*323G>A (n.*323G>A)
c.351G>A (p.Gln117=)
c.540G>A (p.Gln180=)
c.669G>A (p.Gln223=)
19g.13025485G>CCA404315669NFIXc.489G>C (p.Gln163His)
c.310G>C
c.492G>C (p.Gln164His)
c.516G>C (p.Gln172His)
c.501G>C (p.Gln167His)
c.234+117G>C (n.234+117G>C)
c.468G>C (p.Gln156His)
c.*323G>C (n.*323G>C)
c.351G>C (p.Gln117His)
c.540G>C (p.Gln180His)
c.669G>C (p.Gln223His)
19g.13025485G>TCA404315670NFIXc.489G>T (p.Gln163His)
c.310G>T
c.492G>T (p.Gln164His)
c.516G>T (p.Gln172His)
c.501G>T (p.Gln167His)
c.234+117G>T (n.234+117G>T)
c.468G>T (p.Gln156His)
c.*323G>T (n.*323G>T)
c.351G>T (p.Gln117His)
c.540G>T (p.Gln180His)
c.669G>T (p.Gln223His)
19g.13025486C>ACA404315674NFIXc.490C>A (p.Pro164Thr)
c.311C>A
c.493C>A (p.Pro165Thr)
c.517C>A (p.Pro173Thr)
c.502C>A (p.Pro168Thr)
c.234+118C>A (n.234+118C>A)
c.469C>A (p.Pro157Thr)
c.*324C>A (n.*324C>A)
c.352C>A (p.Pro118Thr)
c.541C>A (p.Pro181Thr)
c.670C>A (p.Pro224Thr)
19g.13025486C>GCA404315676NFIXc.490C>G (p.Pro164Ala)
c.311C>G
c.493C>G (p.Pro165Ala)
c.517C>G (p.Pro173Ala)
c.502C>G (p.Pro168Ala)
c.234+118C>G (n.234+118C>G)
c.469C>G (p.Pro157Ala)
c.*324C>G (n.*324C>G)
c.352C>G (p.Pro118Ala)
c.541C>G (p.Pro181Ala)
c.670C>G (p.Pro224Ala)
19g.13025486C>TCA404315678NFIXc.490C>T (p.Pro164Ser)
c.311C>T
c.493C>T (p.Pro165Ser)
c.517C>T (p.Pro173Ser)
c.502C>T (p.Pro168Ser)
c.234+118C>T (n.234+118C>T)
c.469C>T (p.Pro157Ser)
c.*324C>T (n.*324C>T)
c.352C>T (p.Pro118Ser)
c.541C>T (p.Pro181Ser)
c.670C>T (p.Pro224Ser)
19g.13025487C>ACA404315680NFIXc.491C>A (p.Pro164Gln)
c.312C>A
c.494C>A (p.Pro165Gln)
c.518C>A (p.Pro173Gln)
c.503C>A (p.Pro168Gln)
c.234+119C>A (n.234+119C>A)
c.470C>A (p.Pro157Gln)
c.*325C>A (n.*325C>A)
c.353C>A (p.Pro118Gln)
c.542C>A (p.Pro181Gln)
c.671C>A (p.Pro224Gln)
19g.13025487C>GCA404315682NFIXc.491C>G (p.Pro164Arg)
c.312C>G
c.494C>G (p.Pro165Arg)
c.518C>G (p.Pro173Arg)
c.503C>G (p.Pro168Arg)
c.234+119C>G (n.234+119C>G)
c.470C>G (p.Pro157Arg)
c.*325C>G (n.*325C>G)
c.353C>G (p.Pro118Arg)
c.542C>G (p.Pro181Arg)
c.671C>G (p.Pro224Arg)
19g.13025487C>TCA404315684NFIXc.491C>T (p.Pro164Leu)
c.312C>T
c.494C>T (p.Pro165Leu)
c.518C>T (p.Pro173Leu)
c.503C>T (p.Pro168Leu)
c.234+119C>T (n.234+119C>T)
c.470C>T (p.Pro157Leu)
c.*325C>T (n.*325C>T)
c.353C>T (p.Pro118Leu)
c.542C>T (p.Pro181Leu)
c.671C>T (p.Pro224Leu)
19g.13025488A=CA2323688958NFIXc.492A= (p.Pro164=)
c.313A=
c.495A= (p.Pro165=)
c.519A= (p.Pro173=)
c.504A= (p.Pro168=)
c.234+120A= (n.234+120A=)
c.471A= (p.Pro157=)
c.*326A= (n.*326A=)
c.354A= (p.Pro118=)
c.543A= (p.Pro181=)
c.672A= (p.Pro224=)
19g.13025488A>CCA505780886NFIXc.492A>C (p.Pro164=)
c.313A>C
c.495A>C (p.Pro165=)
c.519A>C (p.Pro173=)
c.504A>C (p.Pro168=)
c.234+120A>C (n.234+120A>C)
c.471A>C (p.Pro157=)
c.*326A>C (n.*326A>C)
c.354A>C (p.Pro118=)
c.543A>C (p.Pro181=)
c.672A>C (p.Pro224=)
19g.13025488A>GCA505780885NFIXc.492A>G (p.Pro164=)
c.313A>G
c.495A>G (p.Pro165=)
c.519A>G (p.Pro173=)
c.504A>G (p.Pro168=)
c.234+120A>G (n.234+120A>G)
c.471A>G (p.Pro157=)
c.*326A>G (n.*326A>G)
c.354A>G (p.Pro118=)
c.543A>G (p.Pro181=)
c.672A>G (p.Pro224=)
 dbSNP gnomAD v3 gnomAD v4
19g.13025488A>TCA505780884NFIXc.492A>T (p.Pro164=)
c.313A>T
c.495A>T (p.Pro165=)
c.519A>T (p.Pro173=)
c.504A>T (p.Pro168=)
c.234+120A>T (n.234+120A>T)
c.471A>T (p.Pro157=)
c.*326A>T (n.*326A>T)
c.354A>T (p.Pro118=)
c.543A>T (p.Pro181=)
c.672A>T (p.Pro224=)
19g.13025489C>ACA404315693NFIXc.493C>A (p.His165Asn)
c.314C>A
c.496C>A (p.His166Asn)
c.520C>A (p.His174Asn)
c.505C>A (p.His169Asn)
c.234+121C>A (n.234+121C>A)
c.472C>A (p.His158Asn)
c.*327C>A (n.*327C>A)
c.355C>A (p.His119Asn)
c.544C>A (p.His182Asn)
c.673C>A (p.His225Asn)
19g.13025489C>GCA404315690NFIXc.493C>G (p.His165Asp)
c.314C>G
c.496C>G (p.His166Asp)
c.520C>G (p.His174Asp)
c.505C>G (p.His169Asp)
c.234+121C>G (n.234+121C>G)
c.472C>G (p.His158Asp)
c.*327C>G (n.*327C>G)
c.355C>G (p.His119Asp)
c.544C>G (p.His182Asp)
c.673C>G (p.His225Asp)
19g.13025489C>TCA404315687NFIXc.493C>T (p.His165Tyr)
c.314C>T
c.496C>T (p.His166Tyr)
c.520C>T (p.His174Tyr)
c.505C>T (p.His169Tyr)
c.234+121C>T (n.234+121C>T)
c.472C>T (p.His158Tyr)
c.*327C>T (n.*327C>T)
c.355C>T (p.His119Tyr)
c.544C>T (p.His182Tyr)
c.673C>T (p.His225Tyr)
 ClinVar dbSNP
19g.13025490A>CCA404315698NFIXc.494A>C (p.His165Pro)
c.315A>C
c.497A>C (p.His166Pro)
c.521A>C (p.His174Pro)
c.506A>C (p.His169Pro)
c.234+122A>C (n.234+122A>C)
c.473A>C (p.His158Pro)
c.*328A>C (n.*328A>C)
c.356A>C (p.His119Pro)
c.545A>C (p.His182Pro)
c.674A>C (p.His225Pro)
19g.13025490A>GCA404315701NFIXc.494A>G (p.His165Arg)
c.315A>G
c.497A>G (p.His166Arg)
c.521A>G (p.His174Arg)
c.506A>G (p.His169Arg)
c.234+122A>G (n.234+122A>G)
c.473A>G (p.His158Arg)
c.*328A>G (n.*328A>G)
c.356A>G (p.His119Arg)
c.545A>G (p.His182Arg)
c.674A>G (p.His225Arg)
19g.13025490A>TCA404315705NFIXc.494A>T (p.His165Leu)
c.315A>T
c.497A>T (p.His166Leu)
c.521A>T (p.His174Leu)
c.506A>T (p.His169Leu)
c.234+122A>T (n.234+122A>T)
c.473A>T (p.His158Leu)
c.*328A>T (n.*328A>T)
c.356A>T (p.His119Leu)
c.545A>T (p.His182Leu)
c.674A>T (p.His225Leu)
 gnomAD v4
19g.13025491T>ACA404315709NFIXc.495T>A (p.His165Gln)
c.316T>A
c.498T>A (p.His166Gln)
c.522T>A (p.His174Gln)
c.507T>A (p.His169Gln)
c.234+123T>A (n.234+123T>A)
c.474T>A (p.His158Gln)
c.*329T>A (n.*329T>A)
c.357T>A (p.His119Gln)
c.546T>A (p.His182Gln)
c.675T>A (p.His225Gln)
19g.13025491T>CCA505780888NFIXc.495T>C (p.His165=)
c.316T>C
c.498T>C (p.His166=)
c.522T>C (p.His174=)
c.507T>C (p.His169=)
c.234+123T>C (n.234+123T>C)
c.474T>C (p.His158=)
c.*329T>C (n.*329T>C)
c.357T>C (p.His119=)
c.546T>C (p.His182=)
c.675T>C (p.His225=)
19g.13025491T>GCA404315712NFIXc.495T>G (p.His165Gln)
c.316T>G
c.498T>G (p.His166Gln)
c.522T>G (p.His174Gln)
c.507T>G (p.His169Gln)
c.234+123T>G (n.234+123T>G)
c.474T>G (p.His158Gln)
c.*329T>G (n.*329T>G)
c.357T>G (p.His119Gln)
c.546T>G (p.His182Gln)
c.675T>G (p.His225Gln)
19g.13025492C>ACA404315718NFIXc.496C>A (p.His166Asn)
c.317C>A
c.499C>A (p.His167Asn)
c.523C>A (p.His175Asn)
c.508C>A (p.His170Asn)
c.234+124C>A (n.234+124C>A)
c.475C>A (p.His159Asn)
c.*330C>A (n.*330C>A)
c.358C>A (p.His120Asn)
c.547C>A (p.His183Asn)
c.676C>A (p.His226Asn)
19g.13025492C>GCA404315722NFIXc.496C>G (p.His166Asp)
c.317C>G
c.499C>G (p.His167Asp)
c.523C>G (p.His175Asp)
c.508C>G (p.His170Asp)
c.234+124C>G (n.234+124C>G)
c.475C>G (p.His159Asp)
c.*330C>G (n.*330C>G)
c.358C>G (p.His120Asp)
c.547C>G (p.His183Asp)
c.676C>G (p.His226Asp)
19g.13025492C>TCA404315726NFIXc.496C>T (p.His166Tyr)
c.317C>T
c.499C>T (p.His167Tyr)
c.523C>T (p.His175Tyr)
c.508C>T (p.His170Tyr)
c.234+124C>T (n.234+124C>T)
c.475C>T (p.His159Tyr)
c.*330C>T (n.*330C>T)
c.358C>T (p.His120Tyr)
c.547C>T (p.His183Tyr)
c.676C>T (p.His226Tyr)
19g.13025493A>CCA404315729NFIXc.497A>C (p.His166Pro)
c.318A>C
c.500A>C (p.His167Pro)
c.524A>C (p.His175Pro)
c.509A>C (p.His170Pro)
c.234+125A>C (n.234+125A>C)
c.476A>C (p.His159Pro)
c.*331A>C (n.*331A>C)
c.359A>C (p.His120Pro)
c.548A>C (p.His183Pro)
c.677A>C (p.His226Pro)
19g.13025493A>GCA404315748NFIXc.497A>G (p.His166Arg)
c.318A>G
c.500A>G (p.His167Arg)
c.524A>G (p.His175Arg)
c.509A>G (p.His170Arg)
c.234+125A>G (n.234+125A>G)
c.476A>G (p.His159Arg)
c.*331A>G (n.*331A>G)
c.359A>G (p.His120Arg)
c.548A>G (p.His183Arg)
c.677A>G (p.His226Arg)
19g.13025493A>TCA404315750NFIXc.497A>T (p.His166Leu)
c.318A>T
c.500A>T (p.His167Leu)
c.524A>T (p.His175Leu)
c.509A>T (p.His170Leu)
c.234+125A>T (n.234+125A>T)
c.476A>T (p.His159Leu)
c.*331A>T (n.*331A>T)
c.359A>T (p.His120Leu)
c.548A>T (p.His183Leu)
c.677A>T (p.His226Leu)
19g.13025494C>ACA404315753NFIXc.498C>A (p.His166Gln)
c.319C>A
c.501C>A (p.His167Gln)
c.525C>A (p.His175Gln)
c.510C>A (p.His170Gln)
c.234+126C>A (n.234+126C>A)
c.477C>A (p.His159Gln)
c.*332C>A (n.*332C>A)
c.360C>A (p.His120Gln)
c.549C>A (p.His183Gln)
c.678C>A (p.His226Gln)
19g.13025494C>GCA404315757NFIXc.498C>G (p.His166Gln)
c.319C>G
c.501C>G (p.His167Gln)
c.525C>G (p.His175Gln)
c.510C>G (p.His170Gln)
c.234+126C>G (n.234+126C>G)
c.477C>G (p.His159Gln)
c.*332C>G (n.*332C>G)
c.360C>G (p.His120Gln)
c.549C>G (p.His183Gln)
c.678C>G (p.His226Gln)
19g.13025494C>TCA505780890NFIXc.498C>T (p.His166=)
c.319C>T
c.501C>T (p.His167=)
c.525C>T (p.His175=)
c.510C>T (p.His170=)
c.234+126C>T (n.234+126C>T)
c.477C>T (p.His159=)
c.*332C>T (n.*332C>T)
c.360C>T (p.His120=)
c.549C>T (p.His183=)
c.678C>T (p.His226=)
19g.13025495A>CCA404315764NFIXc.499A>C (p.Ile167Leu)
c.320A>C
c.502A>C (p.Ile168Leu)
c.526A>C (p.Ile176Leu)
c.511A>C (p.Ile171Leu)
c.234+127A>C (n.234+127A>C)
c.478A>C (p.Ile160Leu)
c.*333A>C (n.*333A>C)
c.361A>C (p.Ile121Leu)
c.550A>C
c.679A>C (p.Ile227Leu)
c.550A>C (p.Ile184Leu)
19g.13025495A>GCA404315761NFIXc.499A>G (p.Ile167Val)
c.320A>G
c.502A>G (p.Ile168Val)
c.526A>G (p.Ile176Val)
c.511A>G (p.Ile171Val)
c.234+127A>G (n.234+127A>G)
c.478A>G (p.Ile160Val)
c.*333A>G (n.*333A>G)
c.361A>G (p.Ile121Val)
c.550A>G
c.679A>G (p.Ile227Val)
c.550A>G (p.Ile184Val)
19g.13025495A>TCA404315759NFIXc.499A>T (p.Ile167Phe)
c.320A>T
c.502A>T (p.Ile168Phe)
c.526A>T (p.Ile176Phe)
c.511A>T (p.Ile171Phe)
c.234+127A>T (n.234+127A>T)
c.478A>T (p.Ile160Phe)
c.*333A>T (n.*333A>T)
c.361A>T (p.Ile121Phe)
c.550A>T
c.679A>T (p.Ile227Phe)
c.550A>T (p.Ile184Phe)

Number of alleles fetched