Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13025265T>ACA404314020NFIXc.269T>A (p.Phe90Tyr)
c.90T>A
c.272T>A (p.Phe91Tyr)
c.296T>A (p.Phe99Tyr)
c.281T>A (p.Phe94Tyr)
c.131T>A (p.Phe44Tyr)
c.248T>A (p.Phe83Tyr)
c.*103T>A (n.*103T>A)
c.320T>A (p.Phe107Tyr)
c.449T>A (p.Phe150Tyr)
19g.13025265T>CCA404314024NFIXc.269T>C (p.Phe90Ser)
c.90T>C
c.272T>C (p.Phe91Ser)
c.296T>C (p.Phe99Ser)
c.281T>C (p.Phe94Ser)
c.131T>C (p.Phe44Ser)
c.248T>C (p.Phe83Ser)
c.*103T>C (n.*103T>C)
c.320T>C (p.Phe107Ser)
c.449T>C (p.Phe150Ser)
19g.13025265T>GCA404314022NFIXc.269T>G (p.Phe90Cys)
c.90T>G
c.272T>G (p.Phe91Cys)
c.296T>G (p.Phe99Cys)
c.281T>G (p.Phe94Cys)
c.131T>G (p.Phe44Cys)
c.248T>G (p.Phe83Cys)
c.*103T>G (n.*103T>G)
c.320T>G (p.Phe107Cys)
c.449T>G (p.Phe150Cys)
19g.13025266C>ACA404314026NFIXc.270C>A (p.Phe90Leu)
c.91C>A
c.273C>A (p.Phe91Leu)
c.297C>A (p.Phe99Leu)
c.282C>A (p.Phe94Leu)
c.132C>A (p.Phe44Leu)
c.249C>A (p.Phe83Leu)
c.*104C>A (n.*104C>A)
c.321C>A (p.Phe107Leu)
c.450C>A (p.Phe150Leu)
19g.13025266C>GCA404314028NFIXc.270C>G (p.Phe90Leu)
c.91C>G
c.273C>G (p.Phe91Leu)
c.297C>G (p.Phe99Leu)
c.282C>G (p.Phe94Leu)
c.132C>G (p.Phe44Leu)
c.249C>G (p.Phe83Leu)
c.*104C>G (n.*104C>G)
c.321C>G (p.Phe107Leu)
c.450C>G (p.Phe150Leu)
19g.13025266C>TCA505781101NFIXc.270C>T (p.Phe90=)
c.91C>T
c.273C>T (p.Phe91=)
c.297C>T (p.Phe99=)
c.282C>T (p.Phe94=)
c.132C>T (p.Phe44=)
c.249C>T (p.Phe83=)
c.*104C>T (n.*104C>T)
c.321C>T (p.Phe107=)
c.450C>T (p.Phe150=)
 COSMIC COSMIC COSMIC COSMIC
19g.13025268_13025281delCA2740091907NFIXc.272_285del (p.Val91GlyfsTer22)
c.93_106del
c.275_288del (p.Val92GlyfsTer22)
c.299_312del (p.Val100GlyfsTer22)
c.284_297del (p.Val95GlyfsTer22)
c.134_147del (p.Val45GlyfsTer22)
c.251_264del (p.Val84GlyfsTer22)
c.*106_*119del (n.*106_*119del)
c.323_336del (p.Val108GlyfsTer22)
c.452_465del (p.Val151GlyfsTer22)
 ClinVar
19g.13025267delCA2740091908NFIXc.271del (p.Val91CysfsTer2)
c.92del
c.274del (p.Val92CysfsTer2)
c.298del (p.Val100CysfsTer2)
c.283del (p.Val95CysfsTer2)
c.133del (p.Val45CysfsTer2)
c.250del (p.Val84CysfsTer2)
c.*105del (n.*105del)
c.322del (p.Val108CysfsTer2)
c.451del (p.Val151CysfsTer2)
 ClinVar
19g.13025267G>ACA404314030NFIXc.271G>A (p.Val91Met)
c.92G>A
c.274G>A (p.Val92Met)
c.298G>A (p.Val100Met)
c.283G>A (p.Val95Met)
c.133G>A (p.Val45Met)
c.250G>A (p.Val84Met)
c.*105G>A (n.*105G>A)
c.322G>A (p.Val108Met)
c.451G>A (p.Val151Met)
19g.13025267G>CCA404314032NFIXc.271G>C (p.Val91Leu)
c.92G>C
c.274G>C (p.Val92Leu)
c.298G>C (p.Val100Leu)
c.283G>C (p.Val95Leu)
c.133G>C (p.Val45Leu)
c.250G>C (p.Val84Leu)
c.*105G>C (n.*105G>C)
c.322G>C (p.Val108Leu)
c.451G>C (p.Val151Leu)
19g.13025267G>TCA404314034NFIXc.271G>T (p.Val91Leu)
c.92G>T
c.274G>T (p.Val92Leu)
c.298G>T (p.Val100Leu)
c.283G>T (p.Val95Leu)
c.133G>T (p.Val45Leu)
c.250G>T (p.Val84Leu)
c.*105G>T (n.*105G>T)
c.322G>T (p.Val108Leu)
c.451G>T (p.Val151Leu)
19g.13025268T>ACA404314037NFIXc.272T>A (p.Val91Glu)
c.93T>A
c.275T>A (p.Val92Glu)
c.299T>A (p.Val100Glu)
c.284T>A (p.Val95Glu)
c.134T>A (p.Val45Glu)
c.251T>A (p.Val84Glu)
c.*106T>A (n.*106T>A)
c.323T>A (p.Val108Glu)
c.452T>A (p.Val151Glu)
19g.13025268T>CCA404314039NFIXc.272T>C (p.Val91Ala)
c.93T>C
c.275T>C (p.Val92Ala)
c.299T>C (p.Val100Ala)
c.284T>C (p.Val95Ala)
c.134T>C (p.Val45Ala)
c.251T>C (p.Val84Ala)
c.*106T>C (n.*106T>C)
c.323T>C (p.Val108Ala)
c.452T>C (p.Val151Ala)
19g.13025268T>GCA404314041NFIXc.272T>G (p.Val91Gly)
c.93T>G
c.275T>G (p.Val92Gly)
c.299T>G (p.Val100Gly)
c.284T>G (p.Val95Gly)
c.134T>G (p.Val45Gly)
c.251T>G (p.Val84Gly)
c.*106T>G (n.*106T>G)
c.323T>G (p.Val108Gly)
c.452T>G (p.Val151Gly)
19g.13025269G>ACA505781104NFIXc.273G>A (p.Val91=)
c.94G>A
c.276G>A (p.Val92=)
c.300G>A (p.Val100=)
c.285G>A (p.Val95=)
c.135G>A (p.Val45=)
c.252G>A (p.Val84=)
c.*107G>A (n.*107G>A)
c.324G>A (p.Val108=)
c.453G>A (p.Val151=)
19g.13025269G>CCA505781103NFIXc.273G>C (p.Val91=)
c.94G>C
c.276G>C (p.Val92=)
c.300G>C (p.Val100=)
c.285G>C (p.Val95=)
c.135G>C (p.Val45=)
c.252G>C (p.Val84=)
c.*107G>C (n.*107G>C)
c.324G>C (p.Val108=)
c.453G>C (p.Val151=)
19g.13025269G>TCA505781102NFIXc.273G>T (p.Val91=)
c.94G>T
c.276G>T (p.Val92=)
c.300G>T (p.Val100=)
c.285G>T (p.Val95=)
c.135G>T (p.Val45=)
c.252G>T (p.Val84=)
c.*107G>T (n.*107G>T)
c.324G>T (p.Val108=)
c.453G>T (p.Val151=)
19g.13025270C>ACA404314044NFIXc.274C>A (p.Leu92Met)
c.95C>A
c.277C>A (p.Leu93Met)
c.301C>A (p.Leu101Met)
c.286C>A (p.Leu96Met)
c.136C>A (p.Leu46Met)
c.253C>A (p.Leu85Met)
c.*108C>A (n.*108C>A)
c.325C>A (p.Leu109Met)
c.454C>A (p.Leu152Met)
19g.13025270C>GCA404314046NFIXc.274C>G (p.Leu92Val)
c.95C>G
c.277C>G (p.Leu93Val)
c.301C>G (p.Leu101Val)
c.286C>G (p.Leu96Val)
c.136C>G (p.Leu46Val)
c.253C>G (p.Leu85Val)
c.*108C>G (n.*108C>G)
c.325C>G (p.Leu109Val)
c.454C>G (p.Leu152Val)
 gnomAD v4
19g.13025270C>TCA505781105NFIXc.274C>T (p.Leu92=)
c.95C>T
c.277C>T (p.Leu93=)
c.301C>T (p.Leu101=)
c.286C>T (p.Leu96=)
c.136C>T (p.Leu46=)
c.253C>T (p.Leu85=)
c.*108C>T (n.*108C>T)
c.325C>T (p.Leu109=)
c.454C>T (p.Leu152=)
19g.13025271T>ACA404314049NFIXc.275T>A (p.Leu92Gln)
c.96T>A
c.278T>A (p.Leu93Gln)
c.302T>A (p.Leu101Gln)
c.287T>A (p.Leu96Gln)
c.137T>A (p.Leu46Gln)
c.254T>A (p.Leu85Gln)
c.*109T>A (n.*109T>A)
c.326T>A (p.Leu109Gln)
c.455T>A (p.Leu152Gln)
19g.13025271T>CCA404314052NFIXc.275T>C (p.Leu92Pro)
c.96T>C
c.278T>C (p.Leu93Pro)
c.302T>C (p.Leu101Pro)
c.287T>C (p.Leu96Pro)
c.137T>C (p.Leu46Pro)
c.254T>C (p.Leu85Pro)
c.*109T>C (n.*109T>C)
c.326T>C (p.Leu109Pro)
c.455T>C (p.Leu152Pro)
19g.13025271T>GCA404314054NFIXc.275T>G (p.Leu92Arg)
c.96T>G
c.278T>G (p.Leu93Arg)
c.302T>G (p.Leu101Arg)
c.287T>G (p.Leu96Arg)
c.137T>G (p.Leu46Arg)
c.254T>G (p.Leu85Arg)
c.*109T>G (n.*109T>G)
c.326T>G (p.Leu109Arg)
c.455T>G (p.Leu152Arg)
19g.13025272G>ACA505781107NFIXc.276G>A (p.Leu92=)
c.97G>A
c.279G>A (p.Leu93=)
c.303G>A (p.Leu101=)
c.288G>A (p.Leu96=)
c.138G>A (p.Leu46=)
c.255G>A (p.Leu85=)
c.*110G>A (n.*110G>A)
c.327G>A (p.Leu109=)
c.456G>A (p.Leu152=)
 COSMIC COSMIC COSMIC COSMIC
19g.13025272G>CCA505781108NFIXc.276G>C (p.Leu92=)
c.97G>C
c.279G>C (p.Leu93=)
c.303G>C (p.Leu101=)
c.288G>C (p.Leu96=)
c.138G>C (p.Leu46=)
c.255G>C (p.Leu85=)
c.*110G>C (n.*110G>C)
c.327G>C (p.Leu109=)
c.456G>C (p.Leu152=)
 gnomAD v4
19g.13025272G>TCA505781109NFIXc.276G>T (p.Leu92=)
c.97G>T
c.279G>T (p.Leu93=)
c.303G>T (p.Leu101=)
c.288G>T (p.Leu96=)
c.138G>T (p.Leu46=)
c.255G>T (p.Leu85=)
c.*110G>T (n.*110G>T)
c.327G>T (p.Leu109=)
c.456G>T (p.Leu152=)
19g.13025273A>CCA404314059NFIXc.277A>C (p.Thr93Pro)
c.98A>C
c.280A>C (p.Thr94Pro)
c.304A>C (p.Thr102Pro)
c.289A>C (p.Thr97Pro)
c.139A>C (p.Thr47Pro)
c.256A>C (p.Thr86Pro)
c.*111A>C (n.*111A>C)
c.328A>C (p.Thr110Pro)
c.457A>C (p.Thr153Pro)
19g.13025273A>GCA404314056NFIXc.277A>G (p.Thr93Ala)
c.98A>G
c.280A>G (p.Thr94Ala)
c.304A>G (p.Thr102Ala)
c.289A>G (p.Thr97Ala)
c.139A>G (p.Thr47Ala)
c.256A>G (p.Thr86Ala)
c.*111A>G (n.*111A>G)
c.328A>G (p.Thr110Ala)
c.457A>G (p.Thr153Ala)
19g.13025273A>TCA404314058NFIXc.277A>T (p.Thr93Ser)
c.98A>T
c.280A>T (p.Thr94Ser)
c.304A>T (p.Thr102Ser)
c.289A>T (p.Thr97Ser)
c.139A>T (p.Thr47Ser)
c.256A>T (p.Thr86Ser)
c.*111A>T (n.*111A>T)
c.328A>T (p.Thr110Ser)
c.457A>T (p.Thr153Ser)
19g.13025274C>ACA404314061NFIXc.278C>A (p.Thr93Asn)
c.99C>A
c.281C>A (p.Thr94Asn)
c.305C>A (p.Thr102Asn)
c.290C>A (p.Thr97Asn)
c.140C>A (p.Thr47Asn)
c.257C>A (p.Thr86Asn)
c.*112C>A (n.*112C>A)
c.329C>A (p.Thr110Asn)
c.458C>A (p.Thr153Asn)
19g.13025274C>GCA404314063NFIXc.278C>G (p.Thr93Ser)
c.99C>G
c.281C>G (p.Thr94Ser)
c.305C>G (p.Thr102Ser)
c.290C>G (p.Thr97Ser)
c.140C>G (p.Thr47Ser)
c.257C>G (p.Thr86Ser)
c.*112C>G (n.*112C>G)
c.329C>G (p.Thr110Ser)
c.458C>G (p.Thr153Ser)
19g.13025274C>TCA404314065NFIXc.278C>T (p.Thr93Ile)
c.99C>T
c.281C>T (p.Thr94Ile)
c.305C>T (p.Thr102Ile)
c.290C>T (p.Thr97Ile)
c.140C>T (p.Thr47Ile)
c.257C>T (p.Thr86Ile)
c.*112C>T (n.*112C>T)
c.329C>T (p.Thr110Ile)
c.458C>T (p.Thr153Ile)
19g.13025275C>ACA505781111NFIXc.279C>A (p.Thr93=)
c.100C>A
c.282C>A (p.Thr94=)
c.306C>A (p.Thr102=)
c.291C>A (p.Thr97=)
c.141C>A (p.Thr47=)
c.258C>A (p.Thr86=)
c.*113C>A (n.*113C>A)
c.330C>A (p.Thr110=)
c.459C>A (p.Thr153=)
19g.13025275C=CA2323688882NFIXc.279C= (p.Thr93=)
c.100C=
c.282C= (p.Thr94=)
c.306C= (p.Thr102=)
c.291C= (p.Thr97=)
c.141C= (p.Thr47=)
c.258C= (p.Thr86=)
c.*113C= (n.*113C=)
c.330C= (p.Thr110=)
c.459C= (p.Thr153=)
19g.13025275C>GCA505781112NFIXc.279C>G (p.Thr93=)
c.100C>G
c.282C>G (p.Thr94=)
c.306C>G (p.Thr102=)
c.291C>G (p.Thr97=)
c.141C>G (p.Thr47=)
c.258C>G (p.Thr86=)
c.*113C>G (n.*113C>G)
c.330C>G (p.Thr110=)
c.459C>G (p.Thr153=)
 dbSNP gnomAD v3 gnomAD v4
19g.13025275C>TCA505781114NFIXc.279C>T (p.Thr93=)
c.100C>T
c.282C>T (p.Thr94=)
c.306C>T (p.Thr102=)
c.291C>T (p.Thr97=)
c.141C>T (p.Thr47=)
c.258C>T (p.Thr86=)
c.*113C>T (n.*113C>T)
c.330C>T (p.Thr110=)
c.459C>T (p.Thr153=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13025276A>CCA404314068NFIXc.280A>C (p.Ile94Leu)
c.101A>C
c.283A>C (p.Ile95Leu)
c.307A>C (p.Ile103Leu)
c.292A>C (p.Ile98Leu)
c.142A>C (p.Ile48Leu)
c.259A>C (p.Ile87Leu)
c.*114A>C (n.*114A>C)
c.331A>C (p.Ile111Leu)
c.460A>C (p.Ile154Leu)
19g.13025276A>GCA404314070NFIXc.280A>G (p.Ile94Val)
c.101A>G
c.283A>G (p.Ile95Val)
c.307A>G (p.Ile103Val)
c.292A>G (p.Ile98Val)
c.142A>G (p.Ile48Val)
c.259A>G (p.Ile87Val)
c.*114A>G (n.*114A>G)
c.331A>G (p.Ile111Val)
c.460A>G (p.Ile154Val)
 gnomAD v4
19g.13025276A>TCA404314072NFIXc.280A>T (p.Ile94Phe)
c.101A>T
c.283A>T (p.Ile95Phe)
c.307A>T (p.Ile103Phe)
c.292A>T (p.Ile98Phe)
c.142A>T (p.Ile48Phe)
c.259A>T (p.Ile87Phe)
c.*114A>T (n.*114A>T)
c.331A>T (p.Ile111Phe)
c.460A>T (p.Ile154Phe)
19g.13025277T>ACA404314074NFIXc.281T>A (p.Ile94Asn)
c.102T>A
c.284T>A (p.Ile95Asn)
c.308T>A (p.Ile103Asn)
c.293T>A (p.Ile98Asn)
c.143T>A (p.Ile48Asn)
c.260T>A (p.Ile87Asn)
c.*115T>A (n.*115T>A)
c.332T>A (p.Ile111Asn)
c.461T>A (p.Ile154Asn)
19g.13025277T>CCA404314076NFIXc.281T>C (p.Ile94Thr)
c.102T>C
c.284T>C (p.Ile95Thr)
c.308T>C (p.Ile103Thr)
c.293T>C (p.Ile98Thr)
c.143T>C (p.Ile48Thr)
c.260T>C (p.Ile87Thr)
c.*115T>C (n.*115T>C)
c.332T>C (p.Ile111Thr)
c.461T>C (p.Ile154Thr)
19g.13025277T>GCA404314077NFIXc.281T>G (p.Ile94Ser)
c.102T>G
c.284T>G (p.Ile95Ser)
c.308T>G (p.Ile103Ser)
c.293T>G (p.Ile98Ser)
c.143T>G (p.Ile48Ser)
c.260T>G (p.Ile87Ser)
c.*115T>G (n.*115T>G)
c.332T>G (p.Ile111Ser)
c.461T>G (p.Ile154Ser)
19g.13025278C>ACA505781119NFIXc.282C>A (p.Ile94=)
c.103C>A
c.285C>A (p.Ile95=)
c.309C>A (p.Ile103=)
c.294C>A (p.Ile98=)
c.144C>A (p.Ile48=)
c.261C>A (p.Ile87=)
c.*116C>A (n.*116C>A)
c.333C>A (p.Ile111=)
c.462C>A (p.Ile154=)
19g.13025278C>GCA404314079NFIXc.282C>G (p.Ile94Met)
c.103C>G
c.285C>G (p.Ile95Met)
c.309C>G (p.Ile103Met)
c.294C>G (p.Ile98Met)
c.144C>G (p.Ile48Met)
c.261C>G (p.Ile87Met)
c.*116C>G (n.*116C>G)
c.333C>G (p.Ile111Met)
c.462C>G (p.Ile154Met)
19g.13025278C>TCA505781120NFIXc.282C>T (p.Ile94=)
c.103C>T
c.285C>T (p.Ile95=)
c.309C>T (p.Ile103=)
c.294C>T (p.Ile98=)
c.144C>T (p.Ile48=)
c.261C>T (p.Ile87=)
c.*116C>T (n.*116C>T)
c.333C>T (p.Ile111=)
c.462C>T (p.Ile154=)
19g.13025279_13025293delCA2573156010NFIXc.283_297del (p.Thr95_Pro99del)
c.104_118del
c.286_300del (p.Thr96_Pro100del)
c.310_324del (p.Thr104_Pro108del)
c.295_309del (p.Thr99_Pro103del)
c.145_159del (p.Thr49_Pro53del)
c.262_276del (p.Thr88_Pro92del)
c.*117_*131del (n.*117_*131del)
c.334_348del (p.Thr112_Pro116del)
c.463_477del (p.Thr155_Pro159del)
 ClinVar dbSNP
19g.13025279A>CCA404314084NFIXc.283A>C (p.Thr95Pro)
c.104A>C
c.286A>C (p.Thr96Pro)
c.310A>C (p.Thr104Pro)
c.295A>C (p.Thr99Pro)
c.145A>C (p.Thr49Pro)
c.262A>C (p.Thr88Pro)
c.*117A>C (n.*117A>C)
c.334A>C (p.Thr112Pro)
c.463A>C (p.Thr155Pro)
19g.13025279A>GCA404314085NFIXc.283A>G (p.Thr95Ala)
c.104A>G
c.286A>G (p.Thr96Ala)
c.310A>G (p.Thr104Ala)
c.295A>G (p.Thr99Ala)
c.145A>G (p.Thr49Ala)
c.262A>G (p.Thr88Ala)
c.*117A>G (n.*117A>G)
c.334A>G (p.Thr112Ala)
c.463A>G (p.Thr155Ala)
19g.13025279A>TCA404314082NFIXc.283A>T (p.Thr95Ser)
c.104A>T
c.286A>T (p.Thr96Ser)
c.310A>T (p.Thr104Ser)
c.295A>T (p.Thr99Ser)
c.145A>T (p.Thr49Ser)
c.262A>T (p.Thr88Ser)
c.*117A>T (n.*117A>T)
c.334A>T (p.Thr112Ser)
c.463A>T (p.Thr155Ser)
19g.13025280C>ACA404314087NFIXc.284C>A (p.Thr95Lys)
c.105C>A
c.287C>A (p.Thr96Lys)
c.311C>A (p.Thr104Lys)
c.296C>A (p.Thr99Lys)
c.146C>A (p.Thr49Lys)
c.263C>A (p.Thr88Lys)
c.*118C>A (n.*118C>A)
c.335C>A (p.Thr112Lys)
c.464C>A (p.Thr155Lys)
19g.13025280C>GCA404314088NFIXc.284C>G (p.Thr95Arg)
c.105C>G
c.287C>G (p.Thr96Arg)
c.311C>G (p.Thr104Arg)
c.296C>G (p.Thr99Arg)
c.146C>G (p.Thr49Arg)
c.263C>G (p.Thr88Arg)
c.*118C>G (n.*118C>G)
c.335C>G (p.Thr112Arg)
c.464C>G (p.Thr155Arg)
 ClinVar
19g.13025280C>TCA404314089NFIXc.284C>T (p.Thr95Met)
c.105C>T
c.287C>T (p.Thr96Met)
c.311C>T (p.Thr104Met)
c.296C>T (p.Thr99Met)
c.146C>T (p.Thr49Met)
c.263C>T (p.Thr88Met)
c.*118C>T (n.*118C>T)
c.335C>T (p.Thr112Met)
c.464C>T (p.Thr155Met)
19g.13025281G>ACA9236968NFIXc.285G>A (p.Thr95=)
c.106G>A
c.288G>A (p.Thr96=)
c.312G>A (p.Thr104=)
c.297G>A (p.Thr99=)
c.147G>A (p.Thr49=)
c.264G>A (p.Thr88=)
c.*119G>A (n.*119G>A)
c.336G>A (p.Thr112=)
c.465G>A (p.Thr155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13025281G>CCA505781124NFIXc.285G>C (p.Thr95=)
c.106G>C
c.288G>C (p.Thr96=)
c.312G>C (p.Thr104=)
c.297G>C (p.Thr99=)
c.147G>C (p.Thr49=)
c.264G>C (p.Thr88=)
c.*119G>C (n.*119G>C)
c.336G>C (p.Thr112=)
c.465G>C (p.Thr155=)
 gnomAD v4
19g.13025281G=CA2323688883NFIXc.285G= (p.Thr95=)
c.106G=
c.288G= (p.Thr96=)
c.312G= (p.Thr104=)
c.297G= (p.Thr99=)
c.147G= (p.Thr49=)
c.264G= (p.Thr88=)
c.*119G= (n.*119G=)
c.336G= (p.Thr112=)
c.465G= (p.Thr155=)
19g.13025281G>TCA505781125NFIXc.285G>T (p.Thr95=)
c.106G>T
c.288G>T (p.Thr96=)
c.312G>T (p.Thr104=)
c.297G>T (p.Thr99=)
c.147G>T (p.Thr49=)
c.264G>T (p.Thr88=)
c.*119G>T (n.*119G>T)
c.336G>T (p.Thr112=)
c.465G>T (p.Thr155=)
19g.13025283delCA2813656078NFIXc.287del (p.Gly96AlafsTer?)
c.108del
c.290del (p.Gly97AlafsTer?)
c.314del (p.Gly105AlafsTer?)
c.299del (p.Gly100AlafsTer?)
c.149del (p.Gly50AlafsTer?)
c.266del (p.Gly89AlafsTer?)
c.*121del (n.*121del)
c.338del (p.Gly113AlafsTer?)
c.467del (p.Gly156AlafsTer?)
19g.13025282G>ACA404314094NFIXc.286G>A (p.Gly96Ser)
c.107G>A
c.289G>A (p.Gly97Ser)
c.313G>A (p.Gly105Ser)
c.298G>A (p.Gly100Ser)
c.148G>A (p.Gly50Ser)
c.265G>A (p.Gly89Ser)
c.*120G>A (n.*120G>A)
c.337G>A (p.Gly113Ser)
c.466G>A (p.Gly156Ser)
19g.13025282G>CCA404314093NFIXc.286G>C (p.Gly96Arg)
c.107G>C
c.289G>C (p.Gly97Arg)
c.313G>C (p.Gly105Arg)
c.298G>C (p.Gly100Arg)
c.148G>C (p.Gly50Arg)
c.265G>C (p.Gly89Arg)
c.*120G>C (n.*120G>C)
c.337G>C (p.Gly113Arg)
c.466G>C (p.Gly156Arg)
19g.13025282G>TCA404314092NFIXc.286G>T (p.Gly96Cys)
c.107G>T
c.289G>T (p.Gly97Cys)
c.313G>T (p.Gly105Cys)
c.298G>T (p.Gly100Cys)
c.148G>T (p.Gly50Cys)
c.265G>T (p.Gly89Cys)
c.*120G>T (n.*120G>T)
c.337G>T (p.Gly113Cys)
c.466G>T (p.Gly156Cys)
19g.13025283G>ACA404314095NFIXc.287G>A (p.Gly96Asp)
c.108G>A
c.290G>A (p.Gly97Asp)
c.314G>A (p.Gly105Asp)
c.299G>A (p.Gly100Asp)
c.149G>A (p.Gly50Asp)
c.266G>A (p.Gly89Asp)
c.*121G>A (n.*121G>A)
c.338G>A (p.Gly113Asp)
c.467G>A (p.Gly156Asp)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13025283G>CCA404314096NFIXc.287G>C (p.Gly96Ala)
c.108G>C
c.290G>C (p.Gly97Ala)
c.314G>C (p.Gly105Ala)
c.299G>C (p.Gly100Ala)
c.149G>C (p.Gly50Ala)
c.266G>C (p.Gly89Ala)
c.*121G>C (n.*121G>C)
c.338G>C (p.Gly113Ala)
c.467G>C (p.Gly156Ala)
19g.13025283G=CA2323688884NFIXc.287G= (p.Gly96=)
c.108G=
c.290G= (p.Gly97=)
c.314G= (p.Gly105=)
c.299G= (p.Gly100=)
c.149G= (p.Gly50=)
c.266G= (p.Gly89=)
c.*121G= (n.*121G=)
c.338G= (p.Gly113=)
c.467G= (p.Gly156=)
19g.13025283G>TCA404314098NFIXc.287G>T (p.Gly96Val)
c.108G>T
c.290G>T (p.Gly97Val)
c.314G>T (p.Gly105Val)
c.299G>T (p.Gly100Val)
c.149G>T (p.Gly50Val)
c.266G>T (p.Gly89Val)
c.*121G>T (n.*121G>T)
c.338G>T (p.Gly113Val)
c.467G>T (p.Gly156Val)
19g.13025284C>ACA505781129NFIXc.288C>A (p.Gly96=)
c.109C>A
c.291C>A (p.Gly97=)
c.315C>A (p.Gly105=)
c.300C>A (p.Gly100=)
c.150C>A (p.Gly50=)
c.267C>A (p.Gly89=)
c.*122C>A (n.*122C>A)
c.339C>A (p.Gly113=)
c.468C>A (p.Gly156=)
19g.13025284C>GCA505781130NFIXc.288C>G (p.Gly96=)
c.109C>G
c.291C>G (p.Gly97=)
c.315C>G (p.Gly105=)
c.300C>G (p.Gly100=)
c.150C>G (p.Gly50=)
c.267C>G (p.Gly89=)
c.*122C>G (n.*122C>G)
c.339C>G (p.Gly113=)
c.468C>G (p.Gly156=)
19g.13025284C>TCA505781131NFIXc.288C>T (p.Gly96=)
c.109C>T
c.291C>T (p.Gly97=)
c.315C>T (p.Gly105=)
c.300C>T (p.Gly100=)
c.150C>T (p.Gly50=)
c.267C>T (p.Gly89=)
c.*122C>T (n.*122C>T)
c.339C>T (p.Gly113=)
c.468C>T (p.Gly156=)
19g.13025285A>CCA404314100NFIXc.289A>C (p.Lys97Gln)
c.110A>C
c.292A>C (p.Lys98Gln)
c.316A>C (p.Lys106Gln)
c.301A>C (p.Lys101Gln)
c.151A>C (p.Lys51Gln)
c.268A>C (p.Lys90Gln)
c.*123A>C (n.*123A>C)
c.340A>C (p.Lys114Gln)
c.469A>C (p.Lys157Gln)
19g.13025285A>GCA404314102NFIXc.289A>G (p.Lys97Glu)
c.110A>G
c.292A>G (p.Lys98Glu)
c.316A>G (p.Lys106Glu)
c.301A>G (p.Lys101Glu)
c.151A>G (p.Lys51Glu)
c.268A>G (p.Lys90Glu)
c.*123A>G (n.*123A>G)
c.340A>G (p.Lys114Glu)
c.469A>G (p.Lys157Glu)
19g.13025285A>TCA404314104NFIXc.289A>T (p.Lys97Ter)
c.110A>T
c.292A>T (p.Lys98Ter)
c.316A>T (p.Lys106Ter)
c.301A>T (p.Lys101Ter)
c.151A>T (p.Lys51Ter)
c.268A>T (p.Lys90Ter)
c.*123A>T (n.*123A>T)
c.340A>T (p.Lys114Ter)
c.469A>T (p.Lys157Ter)
19g.13025286delCA2813656081NFIXc.290del (p.Lys97ArgfsTer?)
c.111del
c.293del (p.Lys98ArgfsTer?)
c.317del (p.Lys106ArgfsTer?)
c.302del (p.Lys101ArgfsTer?)
c.152del (p.Lys51ArgfsTer?)
c.269del (p.Lys90ArgfsTer?)
c.*124del (n.*124del)
c.341del (p.Lys114ArgfsTer?)
c.470del (p.Lys157ArgfsTer?)
19g.13025286A=CA2323688885NFIXc.290A= (p.Lys97=)
c.111A=
c.293A= (p.Lys98=)
c.317A= (p.Lys106=)
c.302A= (p.Lys101=)
c.152A= (p.Lys51=)
c.269A= (p.Lys90=)
c.*124A= (n.*124A=)
c.341A= (p.Lys114=)
c.470A= (p.Lys157=)
19g.13025286A>CCA404314108NFIXc.290A>C (p.Lys97Thr)
c.111A>C
c.293A>C (p.Lys98Thr)
c.317A>C (p.Lys106Thr)
c.302A>C (p.Lys101Thr)
c.152A>C (p.Lys51Thr)
c.269A>C (p.Lys90Thr)
c.*124A>C (n.*124A>C)
c.341A>C (p.Lys114Thr)
c.470A>C (p.Lys157Thr)
19g.13025286A>GCA9236969NFIXc.290A>G (p.Lys97Arg)
c.111A>G
c.293A>G (p.Lys98Arg)
c.317A>G (p.Lys106Arg)
c.302A>G (p.Lys101Arg)
c.152A>G (p.Lys51Arg)
c.269A>G (p.Lys90Arg)
c.*124A>G (n.*124A>G)
c.341A>G (p.Lys114Arg)
c.470A>G (p.Lys157Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13025286A>TCA404314110NFIXc.290A>T (p.Lys97Met)
c.111A>T
c.293A>T (p.Lys98Met)
c.317A>T (p.Lys106Met)
c.302A>T (p.Lys101Met)
c.152A>T (p.Lys51Met)
c.269A>T (p.Lys90Met)
c.*124A>T (n.*124A>T)
c.341A>T (p.Lys114Met)
c.470A>T (p.Lys157Met)
19g.13025287G>ACA9236970NFIXc.291G>A (p.Lys97=)
c.112G>A
c.294G>A (p.Lys98=)
c.318G>A (p.Lys106=)
c.303G>A (p.Lys101=)
c.153G>A (p.Lys51=)
c.270G>A (p.Lys90=)
c.*125G>A (n.*125G>A)
c.342G>A (p.Lys114=)
c.471G>A (p.Lys157=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025287G>CCA404314115NFIXc.291G>C (p.Lys97Asn)
c.112G>C
c.294G>C (p.Lys98Asn)
c.318G>C (p.Lys106Asn)
c.303G>C (p.Lys101Asn)
c.153G>C (p.Lys51Asn)
c.270G>C (p.Lys90Asn)
c.*125G>C (n.*125G>C)
c.342G>C (p.Lys114Asn)
c.471G>C (p.Lys157Asn)
19g.13025287G=CA2323688886NFIXc.291G= (p.Lys97=)
c.112G=
c.294G= (p.Lys98=)
c.318G= (p.Lys106=)
c.303G= (p.Lys101=)
c.153G= (p.Lys51=)
c.270G= (p.Lys90=)
c.*125G= (n.*125G=)
c.342G= (p.Lys114=)
c.471G= (p.Lys157=)
19g.13025287G>TCA404314117NFIXc.291G>T (p.Lys97Asn)
c.112G>T
c.294G>T (p.Lys98Asn)
c.318G>T (p.Lys106Asn)
c.303G>T (p.Lys101Asn)
c.153G>T (p.Lys51Asn)
c.270G>T (p.Lys90Asn)
c.*125G>T (n.*125G>T)
c.342G>T (p.Lys114Asn)
c.471G>T (p.Lys157Asn)
19g.13025288A>CCA404314120NFIXc.292A>C (p.Lys98Gln)
c.113A>C
c.295A>C (p.Lys99Gln)
c.319A>C (p.Lys107Gln)
c.304A>C (p.Lys102Gln)
c.154A>C (p.Lys52Gln)
c.271A>C (p.Lys91Gln)
c.*126A>C (n.*126A>C)
c.343A>C (p.Lys115Gln)
c.472A>C (p.Lys158Gln)
19g.13025288A>GCA404314122NFIXc.292A>G (p.Lys98Glu)
c.113A>G
c.295A>G (p.Lys99Glu)
c.319A>G (p.Lys107Glu)
c.304A>G (p.Lys102Glu)
c.154A>G (p.Lys52Glu)
c.271A>G (p.Lys91Glu)
c.*126A>G (n.*126A>G)
c.343A>G (p.Lys115Glu)
c.472A>G (p.Lys158Glu)
19g.13025288A>TCA404314124NFIXc.292A>T (p.Lys98Ter)
c.113A>T
c.295A>T (p.Lys99Ter)
c.319A>T (p.Lys107Ter)
c.304A>T (p.Lys102Ter)
c.154A>T (p.Lys52Ter)
c.271A>T (p.Lys91Ter)
c.*126A>T (n.*126A>T)
c.343A>T (p.Lys115Ter)
c.472A>T (p.Lys158Ter)
19g.13025289A=CA2323688887NFIXc.293A= (p.Lys98=)
c.114A=
c.296A= (p.Lys99=)
c.320A= (p.Lys107=)
c.305A= (p.Lys102=)
c.155A= (p.Lys52=)
c.272A= (p.Lys91=)
c.*127A= (n.*127A=)
c.344A= (p.Lys115=)
c.473A= (p.Lys158=)
19g.13025289A>CCA404314125NFIXc.293A>C (p.Lys98Thr)
c.114A>C
c.296A>C (p.Lys99Thr)
c.320A>C (p.Lys107Thr)
c.305A>C (p.Lys102Thr)
c.155A>C (p.Lys52Thr)
c.272A>C (p.Lys91Thr)
c.*127A>C (n.*127A>C)
c.344A>C (p.Lys115Thr)
c.473A>C (p.Lys158Thr)
19g.13025289A>GCA9236971NFIXc.293A>G (p.Lys98Arg)
c.114A>G
c.296A>G (p.Lys99Arg)
c.320A>G (p.Lys107Arg)
c.305A>G (p.Lys102Arg)
c.155A>G (p.Lys52Arg)
c.272A>G (p.Lys91Arg)
c.*127A>G (n.*127A>G)
c.344A>G (p.Lys115Arg)
c.473A>G (p.Lys158Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025289A>TCA404314129NFIXc.293A>T (p.Lys98Met)
c.114A>T
c.296A>T (p.Lys99Met)
c.320A>T (p.Lys107Met)
c.305A>T (p.Lys102Met)
c.155A>T (p.Lys52Met)
c.272A>T (p.Lys91Met)
c.*127A>T (n.*127A>T)
c.344A>T (p.Lys115Met)
c.473A>T (p.Lys158Met)
19g.13025290G>ACA505781144NFIXc.294G>A (p.Lys98=)
c.115G>A
c.297G>A (p.Lys99=)
c.321G>A (p.Lys107=)
c.306G>A (p.Lys102=)
c.156G>A (p.Lys52=)
c.273G>A (p.Lys91=)
c.*128G>A (n.*128G>A)
c.345G>A (p.Lys115=)
c.474G>A (p.Lys158=)
19g.13025290G>CCA404314131NFIXc.294G>C (p.Lys98Asn)
c.115G>C
c.297G>C (p.Lys99Asn)
c.321G>C (p.Lys107Asn)
c.306G>C (p.Lys102Asn)
c.156G>C (p.Lys52Asn)
c.273G>C (p.Lys91Asn)
c.*128G>C (n.*128G>C)
c.345G>C (p.Lys115Asn)
c.474G>C (p.Lys158Asn)
19g.13025290G>TCA404314133NFIXc.294G>T (p.Lys98Asn)
c.115G>T
c.297G>T (p.Lys99Asn)
c.321G>T (p.Lys107Asn)
c.306G>T (p.Lys102Asn)
c.156G>T (p.Lys52Asn)
c.273G>T (p.Lys91Asn)
c.*128G>T (n.*128G>T)
c.345G>T (p.Lys115Asn)
c.474G>T (p.Lys158Asn)
19g.13025290_13025291delinsGCCA2323688888NFIXc.294_295delinsGC (p.Lys98=)
c.115_116delinsGC
c.297_298delinsGC (p.Lys99=)
c.321_322delinsGC (p.Lys107=)
c.306_307delinsGC (p.Lys102=)
c.156_157delinsGC (p.Lys52=)
c.273_274delinsGC (p.Lys91=)
c.*128_*129delinsGC (n.*128_*129delinsGC)
c.345_346delinsGC (p.Lys115=)
c.474_475delinsGC (p.Lys158=)
19g.13025291C>ACA404314142NFIXc.295C>A (p.Pro99Thr)
c.116C>A
c.298C>A (p.Pro100Thr)
c.322C>A (p.Pro108Thr)
c.307C>A (p.Pro103Thr)
c.157C>A (p.Pro53Thr)
c.274C>A (p.Pro92Thr)
c.*129C>A (n.*129C>A)
c.346C>A (p.Pro116Thr)
c.475C>A (p.Pro159Thr)
19g.13025291C>GCA404314138NFIXc.295C>G (p.Pro99Ala)
c.116C>G
c.298C>G (p.Pro100Ala)
c.322C>G (p.Pro108Ala)
c.307C>G (p.Pro103Ala)
c.157C>G (p.Pro53Ala)
c.274C>G (p.Pro92Ala)
c.*129C>G (n.*129C>G)
c.346C>G (p.Pro116Ala)
c.475C>G (p.Pro159Ala)
 gnomAD v4
19g.13025291C>TCA404314140NFIXc.295C>T (p.Pro99Ser)
c.116C>T
c.298C>T (p.Pro100Ser)
c.322C>T (p.Pro108Ser)
c.307C>T (p.Pro103Ser)
c.157C>T (p.Pro53Ser)
c.274C>T (p.Pro92Ser)
c.*129C>T (n.*129C>T)
c.346C>T (p.Pro116Ser)
c.475C>T (p.Pro159Ser)
 gnomAD v4
19g.13025296dupCA915952540NFIXc.300dup (p.Cys101LeufsTer17)
c.121dup
c.303dup (p.Cys102LeufsTer17)
c.327dup (p.Cys110LeufsTer17)
c.312dup (p.Cys105LeufsTer17)
c.162dup (p.Cys55LeufsTer17)
c.279dup (p.Cys94LeufsTer17)
c.*134dup (n.*134dup)
c.351dup (p.Cys118LeufsTer17)
c.480dup (p.Cys161LeufsTer17)
 ClinVar dbSNP
19g.13025296delCA10603507NFIXc.300del (p.Cys101AlafsTer?)
c.121del
c.303del (p.Cys102AlafsTer?)
c.327del (p.Cys110AlafsTer?)
c.312del (p.Cys105AlafsTer?)
c.162del (p.Cys55AlafsTer?)
c.279del (p.Cys94AlafsTer?)
c.*134del (n.*134del)
c.351del (p.Cys118AlafsTer?)
c.480del (p.Cys161AlafsTer?)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
19g.13025292C>ACA404314144NFIXc.296C>A (p.Pro99His)
c.117C>A
c.299C>A (p.Pro100His)
c.323C>A (p.Pro108His)
c.308C>A (p.Pro103His)
c.158C>A (p.Pro53His)
c.275C>A (p.Pro92His)
c.*130C>A (n.*130C>A)
c.347C>A (p.Pro116His)
c.476C>A (p.Pro159His)
19g.13025292C>GCA404314146NFIXc.296C>G (p.Pro99Arg)
c.117C>G
c.299C>G (p.Pro100Arg)
c.323C>G (p.Pro108Arg)
c.308C>G (p.Pro103Arg)
c.158C>G (p.Pro53Arg)
c.275C>G (p.Pro92Arg)
c.*130C>G (n.*130C>G)
c.347C>G (p.Pro116Arg)
c.476C>G (p.Pro159Arg)
19g.13025292C>TCA404314148NFIXc.296C>T (p.Pro99Leu)
c.117C>T
c.299C>T (p.Pro100Leu)
c.323C>T (p.Pro108Leu)
c.308C>T (p.Pro103Leu)
c.158C>T (p.Pro53Leu)
c.275C>T (p.Pro92Leu)
c.*130C>T (n.*130C>T)
c.347C>T (p.Pro116Leu)
c.476C>T (p.Pro159Leu)
19g.13025293C>ACA505781149NFIXc.297C>A (p.Pro99=)
c.118C>A
c.300C>A (p.Pro100=)
c.324C>A (p.Pro108=)
c.309C>A (p.Pro103=)
c.159C>A (p.Pro53=)
c.276C>A (p.Pro92=)
c.*131C>A (n.*131C>A)
c.348C>A (p.Pro116=)
c.477C>A (p.Pro159=)
19g.13025293C=CA2323688889NFIXc.297C= (p.Pro99=)
c.118C=
c.300C= (p.Pro100=)
c.324C= (p.Pro108=)
c.309C= (p.Pro103=)
c.159C= (p.Pro53=)
c.276C= (p.Pro92=)
c.*131C= (n.*131C=)
c.348C= (p.Pro116=)
c.477C= (p.Pro159=)
19g.13025293C>GCA9236972NFIXc.297C>G (p.Pro99=)
c.118C>G
c.300C>G (p.Pro100=)
c.324C>G (p.Pro108=)
c.309C>G (p.Pro103=)
c.159C>G (p.Pro53=)
c.276C>G (p.Pro92=)
c.*131C>G (n.*131C>G)
c.348C>G (p.Pro116=)
c.477C>G (p.Pro159=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025293C>TCA9236973NFIXc.297C>T (p.Pro99=)
c.118C>T
c.300C>T (p.Pro100=)
c.324C>T (p.Pro108=)
c.309C>T (p.Pro103=)
c.159C>T (p.Pro53=)
c.276C>T (p.Pro92=)
c.*131C>T (n.*131C>T)
c.348C>T (p.Pro116=)
c.477C>T (p.Pro159=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13025294C>ACA404314155NFIXc.298C>A (p.Pro100Thr)
c.119C>A
c.301C>A (p.Pro101Thr)
c.325C>A (p.Pro109Thr)
c.310C>A (p.Pro104Thr)
c.160C>A (p.Pro54Thr)
c.277C>A (p.Pro93Thr)
c.*132C>A (n.*132C>A)
c.349C>A (p.Pro117Thr)
c.478C>A (p.Pro160Thr)
19g.13025294C>GCA404314157NFIXc.298C>G (p.Pro100Ala)
c.119C>G
c.301C>G (p.Pro101Ala)
c.325C>G (p.Pro109Ala)
c.310C>G (p.Pro104Ala)
c.160C>G (p.Pro54Ala)
c.277C>G (p.Pro93Ala)
c.*132C>G (n.*132C>G)
c.349C>G (p.Pro117Ala)
c.478C>G (p.Pro160Ala)
19g.13025294C>TCA404314159NFIXc.298C>T (p.Pro100Ser)
c.119C>T
c.301C>T (p.Pro101Ser)
c.325C>T (p.Pro109Ser)
c.310C>T (p.Pro104Ser)
c.160C>T (p.Pro54Ser)
c.277C>T (p.Pro93Ser)
c.*132C>T (n.*132C>T)
c.349C>T (p.Pro117Ser)
c.478C>T (p.Pro160Ser)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13025295C>ACA404314162NFIXc.299C>A (p.Pro100His)
c.120C>A
c.302C>A (p.Pro101His)
c.326C>A (p.Pro109His)
c.311C>A (p.Pro104His)
c.161C>A (p.Pro54His)
c.278C>A (p.Pro93His)
c.*133C>A (n.*133C>A)
c.350C>A (p.Pro117His)
c.479C>A (p.Pro160His)
19g.13025295C>GCA404314163NFIXc.299C>G (p.Pro100Arg)
c.120C>G
c.302C>G (p.Pro101Arg)
c.326C>G (p.Pro109Arg)
c.311C>G (p.Pro104Arg)
c.161C>G (p.Pro54Arg)
c.278C>G (p.Pro93Arg)
c.*133C>G (n.*133C>G)
c.350C>G (p.Pro117Arg)
c.479C>G (p.Pro160Arg)
 gnomAD v4
19g.13025295C>TCA404314165NFIXc.299C>T (p.Pro100Leu)
c.120C>T
c.302C>T (p.Pro101Leu)
c.326C>T (p.Pro109Leu)
c.311C>T (p.Pro104Leu)
c.161C>T (p.Pro54Leu)
c.278C>T (p.Pro93Leu)
c.*133C>T (n.*133C>T)
c.350C>T (p.Pro117Leu)
c.479C>T (p.Pro160Leu)
 COSMIC COSMIC COSMIC
19g.13025296C>ACA505781163NFIXc.300C>A (p.Pro100=)
c.121C>A
c.303C>A (p.Pro101=)
c.327C>A (p.Pro109=)
c.312C>A (p.Pro104=)
c.162C>A (p.Pro54=)
c.279C>A (p.Pro93=)
c.*134C>A (n.*134C>A)
c.351C>A (p.Pro117=)
c.480C>A (p.Pro160=)
19g.13025296C=CA2323688890NFIXc.300C= (p.Pro100=)
c.121C=
c.303C= (p.Pro101=)
c.327C= (p.Pro109=)
c.312C= (p.Pro104=)
c.162C= (p.Pro54=)
c.279C= (p.Pro93=)
c.*134C= (n.*134C=)
c.351C= (p.Pro117=)
c.480C= (p.Pro160=)
19g.13025296C>GCA9236974NFIXc.300C>G (p.Pro100=)
c.121C>G
c.303C>G (p.Pro101=)
c.327C>G (p.Pro109=)
c.312C>G (p.Pro104=)
c.162C>G (p.Pro54=)
c.279C>G (p.Pro93=)
c.*134C>G (n.*134C>G)
c.351C>G (p.Pro117=)
c.480C>G (p.Pro160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025296C>TCA505781168NFIXc.300C>T (p.Pro100=)
c.121C>T
c.303C>T (p.Pro101=)
c.327C>T (p.Pro109=)
c.312C>T (p.Pro104=)
c.162C>T (p.Pro54=)
c.279C>T (p.Pro93=)
c.*134C>T (n.*134C>T)
c.351C>T (p.Pro117=)
c.480C>T (p.Pro160=)
 dbSNP gnomAD v3 gnomAD v4
19g.13025297T>ACA404314172NFIXc.301T>A (p.Cys101Ser)
c.122T>A
c.304T>A (p.Cys102Ser)
c.328T>A (p.Cys110Ser)
c.313T>A (p.Cys105Ser)
c.163T>A (p.Cys55Ser)
c.280T>A (p.Cys94Ser)
c.*135T>A (n.*135T>A)
c.352T>A (p.Cys118Ser)
c.481T>A (p.Cys161Ser)
 gnomAD v4
19g.13025297T>CCA404314170NFIXc.301T>C (p.Cys101Arg)
c.122T>C
c.304T>C (p.Cys102Arg)
c.328T>C (p.Cys110Arg)
c.313T>C (p.Cys105Arg)
c.163T>C (p.Cys55Arg)
c.280T>C (p.Cys94Arg)
c.*135T>C (n.*135T>C)
c.352T>C (p.Cys118Arg)
c.481T>C (p.Cys161Arg)
19g.13025297T>GCA404314167NFIXc.301T>G (p.Cys101Gly)
c.122T>G
c.304T>G (p.Cys102Gly)
c.328T>G (p.Cys110Gly)
c.313T>G (p.Cys105Gly)
c.163T>G (p.Cys55Gly)
c.280T>G (p.Cys94Gly)
c.*135T>G (n.*135T>G)
c.352T>G (p.Cys118Gly)
c.481T>G (p.Cys161Gly)
19g.13025298G>ACA404314174NFIXc.302G>A (p.Cys101Tyr)
c.123G>A
c.305G>A (p.Cys102Tyr)
c.329G>A (p.Cys110Tyr)
c.314G>A (p.Cys105Tyr)
c.164G>A (p.Cys55Tyr)
c.281G>A (p.Cys94Tyr)
c.*136G>A (n.*136G>A)
c.353G>A (p.Cys118Tyr)
c.482G>A (p.Cys161Tyr)
19g.13025298G>CCA404314176NFIXc.302G>C (p.Cys101Ser)
c.123G>C
c.305G>C (p.Cys102Ser)
c.329G>C (p.Cys110Ser)
c.314G>C (p.Cys105Ser)
c.164G>C (p.Cys55Ser)
c.281G>C (p.Cys94Ser)
c.*136G>C (n.*136G>C)
c.353G>C (p.Cys118Ser)
c.482G>C (p.Cys161Ser)
19g.13025298G>TCA404314178NFIXc.302G>T (p.Cys101Phe)
c.123G>T
c.305G>T (p.Cys102Phe)
c.329G>T (p.Cys110Phe)
c.314G>T (p.Cys105Phe)
c.164G>T (p.Cys55Phe)
c.281G>T (p.Cys94Phe)
c.*136G>T (n.*136G>T)
c.353G>T (p.Cys118Phe)
c.482G>T (p.Cys161Phe)
19g.13025299C>ACA404314180NFIXc.303C>A (p.Cys101Ter)
c.124C>A
c.306C>A (p.Cys102Ter)
c.330C>A (p.Cys110Ter)
c.315C>A (p.Cys105Ter)
c.165C>A (p.Cys55Ter)
c.282C>A (p.Cys94Ter)
c.*137C>A (n.*137C>A)
c.354C>A (p.Cys118Ter)
c.483C>A (p.Cys161Ter)
19g.13025299C=CA2323688891NFIXc.303C= (p.Cys101=)
c.124C=
c.306C= (p.Cys102=)
c.330C= (p.Cys110=)
c.315C= (p.Cys105=)
c.165C= (p.Cys55=)
c.282C= (p.Cys94=)
c.*137C= (n.*137C=)
c.354C= (p.Cys118=)
c.483C= (p.Cys161=)
19g.13025299C>GCA404314182NFIXc.303C>G (p.Cys101Trp)
c.124C>G
c.306C>G (p.Cys102Trp)
c.330C>G (p.Cys110Trp)
c.315C>G (p.Cys105Trp)
c.165C>G (p.Cys55Trp)
c.282C>G (p.Cys94Trp)
c.*137C>G (n.*137C>G)
c.354C>G (p.Cys118Trp)
c.483C>G (p.Cys161Trp)
19g.13025299C>TCA505781186NFIXc.303C>T (p.Cys101=)
c.124C>T
c.306C>T (p.Cys102=)
c.330C>T (p.Cys110=)
c.315C>T (p.Cys105=)
c.165C>T (p.Cys55=)
c.282C>T (p.Cys94=)
c.*137C>T (n.*137C>T)
c.354C>T (p.Cys118=)
c.483C>T (p.Cys161=)
 dbSNP gnomAD v3 gnomAD v4
19g.13025300T>ACA404314184NFIXc.304T>A (p.Cys102Ser)
c.125T>A
c.307T>A (p.Cys103Ser)
c.331T>A (p.Cys111Ser)
c.316T>A (p.Cys106Ser)
c.166T>A (p.Cys56Ser)
c.283T>A (p.Cys95Ser)
c.*138T>A (n.*138T>A)
c.355T>A (p.Cys119Ser)
c.484T>A (p.Cys162Ser)
 COSMIC COSMIC COSMIC COSMIC
19g.13025300T>CCA404314185NFIXc.304T>C (p.Cys102Arg)
c.125T>C
c.307T>C (p.Cys103Arg)
c.331T>C (p.Cys111Arg)
c.316T>C (p.Cys106Arg)
c.166T>C (p.Cys56Arg)
c.283T>C (p.Cys95Arg)
c.*138T>C (n.*138T>C)
c.355T>C (p.Cys119Arg)
c.484T>C (p.Cys162Arg)
19g.13025300T>GCA404314187NFIXc.304T>G (p.Cys102Gly)
c.125T>G
c.307T>G (p.Cys103Gly)
c.331T>G (p.Cys111Gly)
c.316T>G (p.Cys106Gly)
c.166T>G (p.Cys56Gly)
c.283T>G (p.Cys95Gly)
c.*138T>G (n.*138T>G)
c.355T>G (p.Cys119Gly)
c.484T>G (p.Cys162Gly)
19g.13025301G>ACA404314190NFIXc.305G>A (p.Cys102Tyr)
c.126G>A
c.308G>A (p.Cys103Tyr)
c.332G>A (p.Cys111Tyr)
c.317G>A (p.Cys106Tyr)
c.167G>A (p.Cys56Tyr)
c.284G>A (p.Cys95Tyr)
c.*139G>A (n.*139G>A)
c.356G>A (p.Cys119Tyr)
c.485G>A (p.Cys162Tyr)
19g.13025301G>CCA404314192NFIXc.305G>C (p.Cys102Ser)
c.126G>C
c.308G>C (p.Cys103Ser)
c.332G>C (p.Cys111Ser)
c.317G>C (p.Cys106Ser)
c.167G>C (p.Cys56Ser)
c.284G>C (p.Cys95Ser)
c.*139G>C (n.*139G>C)
c.356G>C (p.Cys119Ser)
c.485G>C (p.Cys162Ser)
19g.13025301G>TCA404314194NFIXc.305G>T (p.Cys102Phe)
c.126G>T
c.308G>T (p.Cys103Phe)
c.332G>T (p.Cys111Phe)
c.317G>T (p.Cys106Phe)
c.167G>T (p.Cys56Phe)
c.284G>T (p.Cys95Phe)
c.*139G>T (n.*139G>T)
c.356G>T (p.Cys119Phe)
c.485G>T (p.Cys162Phe)
19g.13025302C>ACA404314200NFIXc.306C>A (p.Cys102Ter)
c.127C>A
c.309C>A (p.Cys103Ter)
c.333C>A (p.Cys111Ter)
c.318C>A (p.Cys106Ter)
c.168C>A (p.Cys56Ter)
c.285C>A (p.Cys95Ter)
c.*140C>A (n.*140C>A)
c.357C>A (p.Cys119Ter)
c.486C>A (p.Cys162Ter)
19g.13025302C=CA2323688892NFIXc.306C= (p.Cys102=)
c.127C=
c.309C= (p.Cys103=)
c.333C= (p.Cys111=)
c.318C= (p.Cys106=)
c.168C= (p.Cys56=)
c.285C= (p.Cys95=)
c.*140C= (n.*140C=)
c.357C= (p.Cys119=)
c.486C= (p.Cys162=)
19g.13025302C>GCA404314207NFIXc.306C>G (p.Cys102Trp)
c.127C>G
c.309C>G (p.Cys103Trp)
c.333C>G (p.Cys111Trp)
c.318C>G (p.Cys106Trp)
c.168C>G (p.Cys56Trp)
c.285C>G (p.Cys95Trp)
c.*140C>G (n.*140C>G)
c.357C>G (p.Cys119Trp)
c.486C>G (p.Cys162Trp)
 ClinVar dbSNP
19g.13025302C>TCA305548254NFIXc.306C>T (p.Cys102=)
c.127C>T
c.309C>T (p.Cys103=)
c.333C>T (p.Cys111=)
c.318C>T (p.Cys106=)
c.168C>T (p.Cys56=)
c.285C>T (p.Cys95=)
c.*140C>T (n.*140C>T)
c.357C>T (p.Cys119=)
c.486C>T (p.Cys162=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13025303G>ACA404314210NFIXc.307G>A (p.Val103Met)
c.128G>A
c.310G>A (p.Val104Met)
c.334G>A (p.Val112Met)
c.319G>A (p.Val107Met)
c.169G>A (p.Val57Met)
c.286G>A (p.Val96Met)
c.*141G>A (n.*141G>A)
c.358G>A (p.Val120Met)
c.487G>A (p.Val163Met)
19g.13025303G>CCA404314211NFIXc.307G>C (p.Val103Leu)
c.128G>C
c.310G>C (p.Val104Leu)
c.334G>C (p.Val112Leu)
c.319G>C (p.Val107Leu)
c.169G>C (p.Val57Leu)
c.286G>C (p.Val96Leu)
c.*141G>C (n.*141G>C)
c.358G>C (p.Val120Leu)
c.487G>C (p.Val163Leu)
19g.13025303G=CA2323688893NFIXc.307G= (p.Val103=)
c.128G=
c.310G= (p.Val104=)
c.334G= (p.Val112=)
c.319G= (p.Val107=)
c.169G= (p.Val57=)
c.286G= (p.Val96=)
c.*141G= (n.*141G=)
c.358G= (p.Val120=)
c.487G= (p.Val163=)
19g.13025303G>TCA305548256NFIXc.307G>T (p.Val103Leu)
c.128G>T
c.310G>T (p.Val104Leu)
c.334G>T (p.Val112Leu)
c.319G>T (p.Val107Leu)
c.169G>T (p.Val57Leu)
c.286G>T (p.Val96Leu)
c.*141G>T (n.*141G>T)
c.358G>T (p.Val120Leu)
c.487G>T (p.Val163Leu)
 dbSNP gnomAD v2
19g.13025304T>ACA404314212NFIXc.308T>A (p.Val103Glu)
c.129T>A
c.311T>A (p.Val104Glu)
c.335T>A (p.Val112Glu)
c.320T>A (p.Val107Glu)
c.170T>A (p.Val57Glu)
c.287T>A (p.Val96Glu)
c.*142T>A (n.*142T>A)
c.359T>A (p.Val120Glu)
c.488T>A (p.Val163Glu)
19g.13025304T>CCA404314213NFIXc.308T>C (p.Val103Ala)
c.129T>C
c.311T>C (p.Val104Ala)
c.335T>C (p.Val112Ala)
c.320T>C (p.Val107Ala)
c.170T>C (p.Val57Ala)
c.287T>C (p.Val96Ala)
c.*142T>C (n.*142T>C)
c.359T>C (p.Val120Ala)
c.488T>C (p.Val163Ala)
 gnomAD v4
19g.13025304T>GCA404314214NFIXc.308T>G (p.Val103Gly)
c.129T>G
c.311T>G (p.Val104Gly)
c.335T>G (p.Val112Gly)
c.320T>G (p.Val107Gly)
c.170T>G (p.Val57Gly)
c.287T>G (p.Val96Gly)
c.*142T>G (n.*142T>G)
c.359T>G (p.Val120Gly)
c.488T>G (p.Val163Gly)
19g.13025305G>ACA505781205NFIXc.309G>A (p.Val103=)
c.130G>A
c.312G>A (p.Val104=)
c.336G>A (p.Val112=)
c.321G>A (p.Val107=)
c.171G>A (p.Val57=)
c.288G>A (p.Val96=)
c.*143G>A (n.*143G>A)
c.360G>A (p.Val120=)
c.489G>A (p.Val163=)
19g.13025305G>CCA505781206NFIXc.309G>C (p.Val103=)
c.130G>C
c.312G>C (p.Val104=)
c.336G>C (p.Val112=)
c.321G>C (p.Val107=)
c.171G>C (p.Val57=)
c.288G>C (p.Val96=)
c.*143G>C (n.*143G>C)
c.360G>C (p.Val120=)
c.489G>C (p.Val163=)
19g.13025305G>TCA505781207NFIXc.309G>T (p.Val103=)
c.130G>T
c.312G>T (p.Val104=)
c.336G>T (p.Val112=)
c.321G>T (p.Val107=)
c.171G>T (p.Val57=)
c.288G>T (p.Val96=)
c.*143G>T (n.*143G>T)
c.360G>T (p.Val120=)
c.489G>T (p.Val163=)
19g.13025306C>ACA404314216NFIXc.310C>A (p.Leu104Ile)
c.131C>A
c.313C>A (p.Leu105Ile)
c.337C>A (p.Leu113Ile)
c.322C>A (p.Leu108Ile)
c.172C>A (p.Leu58Ile)
c.289C>A (p.Leu97Ile)
c.*144C>A (n.*144C>A)
c.361C>A (p.Leu121Ile)
c.490C>A (p.Leu164Ile)
19g.13025306C>GCA404314217NFIXc.310C>G (p.Leu104Val)
c.131C>G
c.313C>G (p.Leu105Val)
c.337C>G (p.Leu113Val)
c.322C>G (p.Leu108Val)
c.172C>G (p.Leu58Val)
c.289C>G (p.Leu97Val)
c.*144C>G (n.*144C>G)
c.361C>G (p.Leu121Val)
c.490C>G (p.Leu164Val)
19g.13025306C>TCA404314218NFIXc.310C>T (p.Leu104Phe)
c.131C>T
c.313C>T (p.Leu105Phe)
c.337C>T (p.Leu113Phe)
c.322C>T (p.Leu108Phe)
c.172C>T (p.Leu58Phe)
c.289C>T (p.Leu97Phe)
c.*144C>T (n.*144C>T)
c.361C>T (p.Leu121Phe)
c.490C>T (p.Leu164Phe)
19g.13025307T>ACA404314219NFIXc.311T>A (p.Leu104His)
c.132T>A
c.314T>A (p.Leu105His)
c.338T>A (p.Leu113His)
c.323T>A (p.Leu108His)
c.173T>A (p.Leu58His)
c.290T>A (p.Leu97His)
c.*145T>A (n.*145T>A)
c.362T>A (p.Leu121His)
c.491T>A (p.Leu164His)
19g.13025307T>CCA404314220NFIXc.311T>C (p.Leu104Pro)
c.132T>C
c.314T>C (p.Leu105Pro)
c.338T>C (p.Leu113Pro)
c.323T>C (p.Leu108Pro)
c.173T>C (p.Leu58Pro)
c.290T>C (p.Leu97Pro)
c.*145T>C (n.*145T>C)
c.362T>C (p.Leu121Pro)
c.491T>C (p.Leu164Pro)
19g.13025307T>GCA404314223NFIXc.311T>G (p.Leu104Arg)
c.132T>G
c.314T>G (p.Leu105Arg)
c.338T>G (p.Leu113Arg)
c.323T>G (p.Leu108Arg)
c.173T>G (p.Leu58Arg)
c.290T>G (p.Leu97Arg)
c.*145T>G (n.*145T>G)
c.362T>G (p.Leu121Arg)
c.491T>G (p.Leu164Arg)
19g.13025308C>ACA505781222NFIXc.312C>A (p.Leu104=)
c.133C>A
c.315C>A (p.Leu105=)
c.339C>A (p.Leu113=)
c.324C>A (p.Leu108=)
c.174C>A (p.Leu58=)
c.291C>A (p.Leu97=)
c.*146C>A (n.*146C>A)
c.363C>A (p.Leu121=)
c.492C>A (p.Leu164=)
19g.13025308C=CA2323688894NFIXc.312C= (p.Leu104=)
c.133C=
c.315C= (p.Leu105=)
c.339C= (p.Leu113=)
c.324C= (p.Leu108=)
c.174C= (p.Leu58=)
c.291C= (p.Leu97=)
c.*146C= (n.*146C=)
c.363C= (p.Leu121=)
c.492C= (p.Leu164=)
19g.13025308C>GCA505781223NFIXc.312C>G (p.Leu104=)
c.133C>G
c.315C>G (p.Leu105=)
c.339C>G (p.Leu113=)
c.324C>G (p.Leu108=)
c.174C>G (p.Leu58=)
c.291C>G (p.Leu97=)
c.*146C>G (n.*146C>G)
c.363C>G (p.Leu121=)
c.492C>G (p.Leu164=)
19g.13025308C>TCA505781224NFIXc.312C>T (p.Leu104=)
c.133C>T
c.315C>T (p.Leu105=)
c.339C>T (p.Leu113=)
c.324C>T (p.Leu108=)
c.174C>T (p.Leu58=)
c.291C>T (p.Leu97=)
c.*146C>T (n.*146C>T)
c.363C>T (p.Leu121=)
c.492C>T (p.Leu164=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13025309_13025317delCA2740091909NFIXc.313_321del (p.Ser105_Pro107del)
c.134_142del
c.316_324del (p.Ser106_Pro108del)
c.340_348del (p.Ser114_Pro116del)
c.325_333del (p.Ser109_Pro111del)
c.175_183del (p.Ser59_Pro61del)
c.292_300del (p.Ser98_Pro100del)
c.*147_*155del (n.*147_*155del)
c.364_372del (p.Ser122_Pro124del)
c.493_501del (p.Ser165_Pro167del)
 ClinVar
19g.13025308_13025309insGGTCA2695228217NFIXc.312_313insGGT (p.Leu104_Ser105insGly)
c.133_134insGGT
c.315_316insGGT (p.Leu105_Ser106insGly)
c.339_340insGGT (p.Leu113_Ser114insGly)
c.324_325insGGT (p.Leu108_Ser109insGly)
c.174_175insGGT (p.Leu58_Ser59insGly)
c.291_292insGGT (p.Leu97_Ser98insGly)
c.*146_*147insGGT (n.*146_*147insGGT)
c.363_364insGGT (p.Leu121_Ser122insGly)
c.492_493insGGT (p.Leu164_Ser165insGly)
19g.13025309T>ACA404314228NFIXc.313T>A (p.Ser105Thr)
c.134T>A
c.316T>A (p.Ser106Thr)
c.340T>A (p.Ser114Thr)
c.325T>A (p.Ser109Thr)
c.175T>A (p.Ser59Thr)
c.292T>A (p.Ser98Thr)
c.*147T>A (n.*147T>A)
c.364T>A (p.Ser122Thr)
c.493T>A (p.Ser165Thr)
19g.13025309T>CCA404314232NFIXc.313T>C (p.Ser105Pro)
c.134T>C
c.316T>C (p.Ser106Pro)
c.340T>C (p.Ser114Pro)
c.325T>C (p.Ser109Pro)
c.175T>C (p.Ser59Pro)
c.292T>C (p.Ser98Pro)
c.*147T>C (n.*147T>C)
c.364T>C (p.Ser122Pro)
c.493T>C (p.Ser165Pro)
 ClinVar dbSNP
19g.13025309T>GCA404314225NFIXc.313T>G (p.Ser105Ala)
c.134T>G
c.316T>G (p.Ser106Ala)
c.340T>G (p.Ser114Ala)
c.325T>G (p.Ser109Ala)
c.175T>G (p.Ser59Ala)
c.292T>G (p.Ser98Ala)
c.*147T>G (n.*147T>G)
c.364T>G (p.Ser122Ala)
c.493T>G (p.Ser165Ala)
19g.13025309T=CA2323688895NFIXc.313T= (p.Ser105=)
c.134T=
c.316T= (p.Ser106=)
c.340T= (p.Ser114=)
c.325T= (p.Ser109=)
c.175T= (p.Ser59=)
c.292T= (p.Ser98=)
c.*147T= (n.*147T=)
c.364T= (p.Ser122=)
c.493T= (p.Ser165=)
19g.13025310C>ACA404314236NFIXc.314C>A (p.Ser105Tyr)
c.135C>A
c.317C>A (p.Ser106Tyr)
c.341C>A (p.Ser114Tyr)
c.326C>A (p.Ser109Tyr)
c.176C>A (p.Ser59Tyr)
c.293C>A (p.Ser98Tyr)
c.*148C>A (n.*148C>A)
c.365C>A (p.Ser122Tyr)
c.494C>A (p.Ser165Tyr)
19g.13025310C>GCA404314237NFIXc.314C>G (p.Ser105Cys)
c.135C>G
c.317C>G (p.Ser106Cys)
c.341C>G (p.Ser114Cys)
c.326C>G (p.Ser109Cys)
c.176C>G (p.Ser59Cys)
c.293C>G (p.Ser98Cys)
c.*148C>G (n.*148C>G)
c.365C>G (p.Ser122Cys)
c.494C>G (p.Ser165Cys)
19g.13025310C>TCA404314239NFIXc.314C>T (p.Ser105Phe)
c.135C>T
c.317C>T (p.Ser106Phe)
c.341C>T (p.Ser114Phe)
c.326C>T (p.Ser109Phe)
c.176C>T (p.Ser59Phe)
c.293C>T (p.Ser98Phe)
c.*148C>T (n.*148C>T)
c.365C>T (p.Ser122Phe)
c.494C>T (p.Ser165Phe)
 ClinVar COSMIC COSMIC COSMIC COSMIC
19g.13025311C>ACA505781238NFIXc.315C>A (p.Ser105=)
c.136C>A
c.318C>A (p.Ser106=)
c.342C>A (p.Ser114=)
c.327C>A (p.Ser109=)
c.177C>A (p.Ser59=)
c.294C>A (p.Ser98=)
c.*149C>A (n.*149C>A)
c.366C>A (p.Ser122=)
c.495C>A (p.Ser165=)
19g.13025311C>GCA505781236NFIXc.315C>G (p.Ser105=)
c.136C>G
c.318C>G (p.Ser106=)
c.342C>G (p.Ser114=)
c.327C>G (p.Ser109=)
c.177C>G (p.Ser59=)
c.294C>G (p.Ser98=)
c.*149C>G (n.*149C>G)
c.366C>G (p.Ser122=)
c.495C>G (p.Ser165=)
19g.13025311C>TCA505781237NFIXc.315C>T (p.Ser105=)
c.136C>T
c.318C>T (p.Ser106=)
c.342C>T (p.Ser114=)
c.327C>T (p.Ser109=)
c.177C>T (p.Ser59=)
c.294C>T (p.Ser98=)
c.*149C>T (n.*149C>T)
c.366C>T (p.Ser122=)
c.495C>T (p.Ser165=)
 gnomAD v4
19g.13025312A>CCA404314242NFIXc.316A>C (p.Asn106His)
c.137A>C
c.319A>C (p.Asn107His)
c.343A>C (p.Asn115His)
c.328A>C (p.Asn110His)
c.178A>C (p.Asn60His)
c.295A>C (p.Asn99His)
c.*150A>C (n.*150A>C)
c.367A>C (p.Asn123His)
c.496A>C (p.Asn166His)
19g.13025312A>GCA404314243NFIXc.316A>G (p.Asn106Asp)
c.137A>G
c.319A>G (p.Asn107Asp)
c.343A>G (p.Asn115Asp)
c.328A>G (p.Asn110Asp)
c.178A>G (p.Asn60Asp)
c.295A>G (p.Asn99Asp)
c.*150A>G (n.*150A>G)
c.367A>G (p.Asn123Asp)
c.496A>G (p.Asn166Asp)
19g.13025312A>TCA404314244NFIXc.316A>T (p.Asn106Tyr)
c.137A>T
c.319A>T (p.Asn107Tyr)
c.343A>T (p.Asn115Tyr)
c.328A>T (p.Asn110Tyr)
c.178A>T (p.Asn60Tyr)
c.295A>T (p.Asn99Tyr)
c.*150A>T (n.*150A>T)
c.367A>T (p.Asn123Tyr)
c.496A>T (p.Asn166Tyr)
19g.13025313A=CA2323688896NFIXc.317A= (p.Asn106=)
c.138A=
c.320A= (p.Asn107=)
c.344A= (p.Asn115=)
c.329A= (p.Asn110=)
c.179A= (p.Asn60=)
c.296A= (p.Asn99=)
c.*151A= (n.*151A=)
c.368A= (p.Asn123=)
c.497A= (p.Asn166=)
19g.13025313A>CCA404314245NFIXc.317A>C (p.Asn106Thr)
c.138A>C
c.320A>C (p.Asn107Thr)
c.344A>C (p.Asn115Thr)
c.329A>C (p.Asn110Thr)
c.179A>C (p.Asn60Thr)
c.296A>C (p.Asn99Thr)
c.*151A>C (n.*151A>C)
c.368A>C (p.Asn123Thr)
c.497A>C (p.Asn166Thr)
19g.13025313A>GCA404314250NFIXc.317A>G (p.Asn106Ser)
c.138A>G
c.320A>G (p.Asn107Ser)
c.344A>G (p.Asn115Ser)
c.329A>G (p.Asn110Ser)
c.179A>G (p.Asn60Ser)
c.296A>G (p.Asn99Ser)
c.*151A>G (n.*151A>G)
c.368A>G (p.Asn123Ser)
c.497A>G (p.Asn166Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.13025313A>TCA404314248NFIXc.317A>T (p.Asn106Ile)
c.138A>T
c.320A>T (p.Asn107Ile)
c.344A>T (p.Asn115Ile)
c.329A>T (p.Asn110Ile)
c.179A>T (p.Asn60Ile)
c.296A>T (p.Asn99Ile)
c.*151A>T (n.*151A>T)
c.368A>T (p.Asn123Ile)
c.497A>T (p.Asn166Ile)
19g.13025314C>ACA404314256NFIXc.318C>A (p.Asn106Lys)
c.139C>A
c.321C>A (p.Asn107Lys)
c.345C>A (p.Asn115Lys)
c.330C>A (p.Asn110Lys)
c.180C>A (p.Asn60Lys)
c.297C>A (p.Asn99Lys)
c.*152C>A (n.*152C>A)
c.369C>A (p.Asn123Lys)
c.498C>A (p.Asn166Lys)
19g.13025314C=CA2323688897NFIXc.318C= (p.Asn106=)
c.139C=
c.321C= (p.Asn107=)
c.345C= (p.Asn115=)
c.330C= (p.Asn110=)
c.180C= (p.Asn60=)
c.297C= (p.Asn99=)
c.*152C= (n.*152C=)
c.369C= (p.Asn123=)
c.498C= (p.Asn166=)
19g.13025314C>GCA404314264NFIXc.318C>G (p.Asn106Lys)
c.139C>G
c.321C>G (p.Asn107Lys)
c.345C>G (p.Asn115Lys)
c.330C>G (p.Asn110Lys)
c.180C>G (p.Asn60Lys)
c.297C>G (p.Asn99Lys)
c.*152C>G (n.*152C>G)
c.369C>G (p.Asn123Lys)
c.498C>G (p.Asn166Lys)
19g.13025314C>TCA505781244NFIXc.318C>T (p.Asn106=)
c.139C>T
c.321C>T (p.Asn107=)
c.345C>T (p.Asn115=)
c.330C>T (p.Asn110=)
c.180C>T (p.Asn60=)
c.297C>T (p.Asn99=)
c.*152C>T (n.*152C>T)
c.369C>T (p.Asn123=)
c.498C>T (p.Asn166=)
 dbSNP gnomAD v3 gnomAD v4
19g.13025317dupCA658799165NFIXc.321dup (p.Asp108ArgfsTer10)
c.142dup
c.324dup (p.Asp109ArgfsTer10)
c.348dup (p.Asp117ArgfsTer10)
c.333dup (p.Asp112ArgfsTer10)
c.183dup (p.Asp62ArgfsTer10)
c.300dup (p.Asp101ArgfsTer10)
c.*155dup (n.*155dup)
c.372dup (p.Asp125ArgfsTer10)
c.501dup (p.Asp168ArgfsTer10)
 ClinVar dbSNP
19g.13025315C>ACA404314265NFIXc.319C>A (p.Pro107Thr)
c.140C>A
c.322C>A (p.Pro108Thr)
c.346C>A (p.Pro116Thr)
c.331C>A (p.Pro111Thr)
c.181C>A (p.Pro61Thr)
c.298C>A (p.Pro100Thr)
c.*153C>A (n.*153C>A)
c.370C>A (p.Pro124Thr)
c.499C>A (p.Pro167Thr)
19g.13025315C>GCA404314266NFIXc.319C>G (p.Pro107Ala)
c.140C>G
c.322C>G (p.Pro108Ala)
c.346C>G (p.Pro116Ala)
c.331C>G (p.Pro111Ala)
c.181C>G (p.Pro61Ala)
c.298C>G (p.Pro100Ala)
c.*153C>G (n.*153C>G)
c.370C>G (p.Pro124Ala)
c.499C>G (p.Pro167Ala)
19g.13025315C>TCA404314267NFIXc.319C>T (p.Pro107Ser)
c.140C>T
c.322C>T (p.Pro108Ser)
c.346C>T (p.Pro116Ser)
c.331C>T (p.Pro111Ser)
c.181C>T (p.Pro61Ser)
c.298C>T (p.Pro100Ser)
c.*153C>T (n.*153C>T)
c.370C>T (p.Pro124Ser)
c.499C>T (p.Pro167Ser)
 gnomAD v4
19g.13025315_13025316delinsACA2695228218NFIXc.319_320delinsA (p.Pro107ThrfsTer27)
c.140_141delinsA
c.322_323delinsA (p.Pro108ThrfsTer27)
c.346_347delinsA (p.Pro116ThrfsTer27)
c.331_332delinsA (p.Pro111ThrfsTer27)
c.181_182delinsA (p.Pro61ThrfsTer24)
c.298_299delinsA (p.Pro100ThrfsTer27)
c.*153_*154delinsA (n.*153_*154delinsA)
c.181_182delinsA (p.Pro61ThrfsTer27)
c.370_371delinsA (p.Pro124ThrfsTer27)
c.499_500delinsA (p.Pro167ThrfsTer27)
19g.13025316C>ACA404314272NFIXc.320C>A (p.Pro107His)
c.141C>A
c.323C>A (p.Pro108His)
c.347C>A (p.Pro116His)
c.332C>A (p.Pro111His)
c.182C>A (p.Pro61His)
c.299C>A (p.Pro100His)
c.*154C>A (n.*154C>A)
c.371C>A (p.Pro124His)
c.500C>A (p.Pro167His)
19g.13025316C>GCA404314273NFIXc.320C>G (p.Pro107Arg)
c.141C>G
c.323C>G (p.Pro108Arg)
c.347C>G (p.Pro116Arg)
c.332C>G (p.Pro111Arg)
c.182C>G (p.Pro61Arg)
c.299C>G (p.Pro100Arg)
c.*154C>G (n.*154C>G)
c.371C>G (p.Pro124Arg)
c.500C>G (p.Pro167Arg)
19g.13025316C>TCA404314269NFIXc.320C>T (p.Pro107Leu)
c.141C>T
c.323C>T (p.Pro108Leu)
c.347C>T (p.Pro116Leu)
c.332C>T (p.Pro111Leu)
c.182C>T (p.Pro61Leu)
c.299C>T (p.Pro100Leu)
c.*154C>T (n.*154C>T)
c.371C>T (p.Pro124Leu)
c.500C>T (p.Pro167Leu)
19g.13025317C>ACA505781254NFIXc.321C>A (p.Pro107=)
c.142C>A
c.324C>A (p.Pro108=)
c.348C>A (p.Pro116=)
c.333C>A (p.Pro111=)
c.183C>A (p.Pro61=)
c.300C>A (p.Pro100=)
c.*155C>A (n.*155C>A)
c.372C>A (p.Pro124=)
c.501C>A (p.Pro167=)
 dbSNP gnomAD v4
19g.13025317C=CA2323688899NFIXc.321C= (p.Pro107=)
c.142C=
c.324C= (p.Pro108=)
c.348C= (p.Pro116=)
c.333C= (p.Pro111=)
c.183C= (p.Pro61=)
c.300C= (p.Pro100=)
c.*155C= (n.*155C=)
c.372C= (p.Pro124=)
c.501C= (p.Pro167=)
19g.13025317C>GCA505781257NFIXc.321C>G (p.Pro107=)
c.142C>G
c.324C>G (p.Pro108=)
c.348C>G (p.Pro116=)
c.333C>G (p.Pro111=)
c.183C>G (p.Pro61=)
c.300C>G (p.Pro100=)
c.*155C>G (n.*155C>G)
c.372C>G (p.Pro124=)
c.501C>G (p.Pro167=)
 gnomAD v4
19g.13025317C>TCA9236975NFIXc.321C>T (p.Pro107=)
c.142C>T
c.324C>T (p.Pro108=)
c.348C>T (p.Pro116=)
c.333C>T (p.Pro111=)
c.183C>T (p.Pro61=)
c.300C>T (p.Pro100=)
c.*155C>T (n.*155C>T)
c.372C>T (p.Pro124=)
c.501C>T (p.Pro167=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025317_13025331delinsCGACCAGAAGGGCAACA2323688898NFIXc.321_335delinsCGACCAGAAGGGCAA (p.Pro107=)
c.142_156delinsCGACCAGAAGGGCAA
c.324_338delinsCGACCAGAAGGGCAA (p.Pro108=)
c.348_362delinsCGACCAGAAGGGCAA (p.Pro116=)
c.333_347delinsCGACCAGAAGGGCAA (p.Pro111=)
c.183_197delinsCGACCAGAAGGGCAA (p.Pro61=)
c.300_314delinsCGACCAGAAGGGCAA (p.Pro100=)
c.*155_*169delinsCGACCAGAAGGGCAA (n.*155_*169delinsCGACCAGAAGGGCAA)
c.372_386delinsCGACCAGAAGGGCAA (p.Pro124=)
c.501_515delinsCGACCAGAAGGGCAA (p.Pro167=)
19g.13025318G>ACA404314288NFIXc.322G>A (p.Asp108Asn)
c.143G>A
c.325G>A (p.Asp109Asn)
c.349G>A (p.Asp117Asn)
c.334G>A (p.Asp112Asn)
c.184G>A (p.Asp62Asn)
c.301G>A (p.Asp101Asn)
c.*156G>A (n.*156G>A)
c.373G>A (p.Asp125Asn)
c.502G>A (p.Asp168Asn)
19g.13025318G>CCA404314294NFIXc.322G>C (p.Asp108His)
c.143G>C
c.325G>C (p.Asp109His)
c.349G>C (p.Asp117His)
c.334G>C (p.Asp112His)
c.184G>C (p.Asp62His)
c.301G>C (p.Asp101His)
c.*156G>C (n.*156G>C)
c.373G>C (p.Asp125His)
c.502G>C (p.Asp168His)
19g.13025318G>TCA404314291NFIXc.322G>T (p.Asp108Tyr)
c.143G>T
c.325G>T (p.Asp109Tyr)
c.349G>T (p.Asp117Tyr)
c.334G>T (p.Asp112Tyr)
c.184G>T (p.Asp62Tyr)
c.301G>T (p.Asp101Tyr)
c.*156G>T (n.*156G>T)
c.373G>T (p.Asp125Tyr)
c.502G>T (p.Asp168Tyr)
 ClinVar dbSNP
19g.13025320_13025333delCA915952541NFIXc.324_337del (p.Gln109ProfsTer4)
c.145_158del
c.327_340del (p.Gln110ProfsTer4)
c.351_364del (p.Gln118ProfsTer4)
c.336_349del (p.Gln113ProfsTer4)
c.186_199del (p.Gln63ProfsTer4)
c.303_316del (p.Gln102ProfsTer4)
c.*158_*171del (n.*158_*171del)
c.375_388del (p.Gln126ProfsTer4)
c.504_517del (p.Gln169ProfsTer4)
 ClinVar dbSNP
19g.13025319A=CA2323688900NFIXc.323A= (p.Asp108=)
c.144A=
c.326A= (p.Asp109=)
c.350A= (p.Asp117=)
c.335A= (p.Asp112=)
c.185A= (p.Asp62=)
c.302A= (p.Asp101=)
c.*157A= (n.*157A=)
c.374A= (p.Asp125=)
c.503A= (p.Asp168=)
19g.13025319A>CCA404314300NFIXc.323A>C (p.Asp108Ala)
c.144A>C
c.326A>C (p.Asp109Ala)
c.350A>C (p.Asp117Ala)
c.335A>C (p.Asp112Ala)
c.185A>C (p.Asp62Ala)
c.302A>C (p.Asp101Ala)
c.*157A>C (n.*157A>C)
c.374A>C (p.Asp125Ala)
c.503A>C (p.Asp168Ala)
 ClinVar dbSNP
19g.13025319A>GCA404314305NFIXc.323A>G (p.Asp108Gly)
c.144A>G
c.326A>G (p.Asp109Gly)
c.350A>G (p.Asp117Gly)
c.335A>G (p.Asp112Gly)
c.185A>G (p.Asp62Gly)
c.302A>G (p.Asp101Gly)
c.*157A>G (n.*157A>G)
c.374A>G (p.Asp125Gly)
c.503A>G (p.Asp168Gly)
19g.13025319A>TCA404314313NFIXc.323A>T (p.Asp108Val)
c.144A>T
c.326A>T (p.Asp109Val)
c.350A>T (p.Asp117Val)
c.335A>T (p.Asp112Val)
c.185A>T (p.Asp62Val)
c.302A>T (p.Asp101Val)
c.*157A>T (n.*157A>T)
c.374A>T (p.Asp125Val)
c.503A>T (p.Asp168Val)
19g.13025320C>ACA404314329NFIXc.324C>A (p.Asp108Glu)
c.145C>A
c.327C>A (p.Asp109Glu)
c.351C>A (p.Asp117Glu)
c.336C>A (p.Asp112Glu)
c.186C>A (p.Asp62Glu)
c.303C>A (p.Asp101Glu)
c.*158C>A (n.*158C>A)
c.375C>A (p.Asp125Glu)
c.504C>A (p.Asp168Glu)
19g.13025320C>GCA404314337NFIXc.324C>G (p.Asp108Glu)
c.145C>G
c.327C>G (p.Asp109Glu)
c.351C>G (p.Asp117Glu)
c.336C>G (p.Asp112Glu)
c.186C>G (p.Asp62Glu)
c.303C>G (p.Asp101Glu)
c.*158C>G (n.*158C>G)
c.375C>G (p.Asp125Glu)
c.504C>G (p.Asp168Glu)
19g.13025320C>TCA505781269NFIXc.324C>T (p.Asp108=)
c.145C>T
c.327C>T (p.Asp109=)
c.351C>T (p.Asp117=)
c.336C>T (p.Asp112=)
c.186C>T (p.Asp62=)
c.303C>T (p.Asp101=)
c.*158C>T (n.*158C>T)
c.375C>T (p.Asp125=)
c.504C>T (p.Asp168=)
 gnomAD v4
19g.13025321C>ACA404314341NFIXc.325C>A (p.Gln109Lys)
c.146C>A
c.328C>A (p.Gln110Lys)
c.352C>A (p.Gln118Lys)
c.337C>A (p.Gln113Lys)
c.187C>A (p.Gln63Lys)
c.304C>A (p.Gln102Lys)
c.*159C>A (n.*159C>A)
c.376C>A (p.Gln126Lys)
c.505C>A (p.Gln169Lys)
19g.13025321C>GCA404314349NFIXc.325C>G (p.Gln109Glu)
c.146C>G
c.328C>G (p.Gln110Glu)
c.352C>G (p.Gln118Glu)
c.337C>G (p.Gln113Glu)
c.187C>G (p.Gln63Glu)
c.304C>G (p.Gln102Glu)
c.*159C>G (n.*159C>G)
c.376C>G (p.Gln126Glu)
c.505C>G (p.Gln169Glu)
19g.13025321C>TCA404314355NFIXc.325C>T (p.Gln109Ter)
c.146C>T
c.328C>T (p.Gln110Ter)
c.352C>T (p.Gln118Ter)
c.337C>T (p.Gln113Ter)
c.187C>T (p.Gln63Ter)
c.304C>T (p.Gln102Ter)
c.*159C>T (n.*159C>T)
c.376C>T (p.Gln126Ter)
c.505C>T (p.Gln169Ter)
19g.13025322A>CCA404314356NFIXc.326A>C (p.Gln109Pro)
c.147A>C
c.329A>C (p.Gln110Pro)
c.353A>C (p.Gln118Pro)
c.338A>C (p.Gln113Pro)
c.188A>C (p.Gln63Pro)
c.305A>C (p.Gln102Pro)
c.*160A>C (n.*160A>C)
c.377A>C (p.Gln126Pro)
c.506A>C (p.Gln169Pro)
19g.13025322A>GCA404314357NFIXc.326A>G (p.Gln109Arg)
c.147A>G
c.329A>G (p.Gln110Arg)
c.353A>G (p.Gln118Arg)
c.338A>G (p.Gln113Arg)
c.188A>G (p.Gln63Arg)
c.305A>G (p.Gln102Arg)
c.*160A>G (n.*160A>G)
c.377A>G (p.Gln126Arg)
c.506A>G (p.Gln169Arg)
19g.13025322A>TCA404314359NFIXc.326A>T (p.Gln109Leu)
c.147A>T
c.329A>T (p.Gln110Leu)
c.353A>T (p.Gln118Leu)
c.338A>T (p.Gln113Leu)
c.188A>T (p.Gln63Leu)
c.305A>T (p.Gln102Leu)
c.*160A>T (n.*160A>T)
c.377A>T (p.Gln126Leu)
c.506A>T (p.Gln169Leu)
19g.13025323G>ACA505781276NFIXc.327G>A (p.Gln109=)
c.148G>A
c.330G>A (p.Gln110=)
c.354G>A (p.Gln118=)
c.339G>A (p.Gln113=)
c.189G>A (p.Gln63=)
c.306G>A (p.Gln102=)
c.*161G>A (n.*161G>A)
c.378G>A (p.Gln126=)
c.507G>A (p.Gln169=)
 dbSNP gnomAD v3 gnomAD v4
19g.13025323G>CCA404314370NFIXc.327G>C (p.Gln109His)
c.148G>C
c.330G>C (p.Gln110His)
c.354G>C (p.Gln118His)
c.339G>C (p.Gln113His)
c.189G>C (p.Gln63His)
c.306G>C (p.Gln102His)
c.*161G>C (n.*161G>C)
c.378G>C (p.Gln126His)
c.507G>C (p.Gln169His)
19g.13025323G=CA2323688901NFIXc.327G= (p.Gln109=)
c.148G=
c.330G= (p.Gln110=)
c.354G= (p.Gln118=)
c.339G= (p.Gln113=)
c.189G= (p.Gln63=)
c.306G= (p.Gln102=)
c.*161G= (n.*161G=)
c.378G= (p.Gln126=)
c.507G= (p.Gln169=)
19g.13025323G>TCA404314366NFIXc.327G>T (p.Gln109His)
c.148G>T
c.330G>T (p.Gln110His)
c.354G>T (p.Gln118His)
c.339G>T (p.Gln113His)
c.189G>T (p.Gln63His)
c.306G>T (p.Gln102His)
c.*161G>T (n.*161G>T)
c.378G>T (p.Gln126His)
c.507G>T (p.Gln169His)
19g.13025324A>CCA404314376NFIXc.328A>C (p.Lys110Gln)
c.149A>C
c.331A>C (p.Lys111Gln)
c.355A>C (p.Lys119Gln)
c.340A>C (p.Lys114Gln)
c.190A>C (p.Lys64Gln)
c.307A>C (p.Lys103Gln)
c.*162A>C (n.*162A>C)
c.379A>C (p.Lys127Gln)
c.508A>C (p.Lys170Gln)
19g.13025324A>GCA404314378NFIXc.328A>G (p.Lys110Glu)
c.149A>G
c.331A>G (p.Lys111Glu)
c.355A>G (p.Lys119Glu)
c.340A>G (p.Lys114Glu)
c.190A>G (p.Lys64Glu)
c.307A>G (p.Lys103Glu)
c.*162A>G (n.*162A>G)
c.379A>G (p.Lys127Glu)
c.508A>G (p.Lys170Glu)
19g.13025324A>TCA404314380NFIXc.328A>T (p.Lys110Ter)
c.149A>T
c.331A>T (p.Lys111Ter)
c.355A>T (p.Lys119Ter)
c.340A>T (p.Lys114Ter)
c.190A>T (p.Lys64Ter)
c.307A>T (p.Lys103Ter)
c.*162A>T (n.*162A>T)
c.379A>T (p.Lys127Ter)
c.508A>T (p.Lys170Ter)
19g.13025324_13025325insCACACCCAACACCA2813656095NFIXc.328_329insCACACCCAACAC (p.Lys110delinsThrHisProThrGln)
c.149_150insCACACCCAACAC
c.331_332insCACACCCAACAC (p.Lys111delinsThrHisProThrGln)
c.355_356insCACACCCAACAC (p.Lys119delinsThrHisProThrGln)
c.340_341insCACACCCAACAC (p.Lys114delinsThrHisProThrGln)
c.190_191insCACACCCAACAC (p.Lys64delinsThrHisProThrGln)
c.307_308insCACACCCAACAC (p.Lys103delinsThrHisProThrGln)
c.*162_*163insCACACCCAACAC (n.*162_*163insCACACCCAACAC)
c.379_380insCACACCCAACAC (p.Lys127delinsThrHisProThrGln)
c.508_509insCACACCCAACAC (p.Lys170delinsThrHisProThrGln)
19g.13025325A>CCA404314382NFIXc.329A>C (p.Lys110Thr)
c.150A>C
c.332A>C (p.Lys111Thr)
c.356A>C (p.Lys119Thr)
c.341A>C (p.Lys114Thr)
c.191A>C (p.Lys64Thr)
c.308A>C (p.Lys103Thr)
c.*163A>C (n.*163A>C)
c.380A>C (p.Lys127Thr)
c.509A>C (p.Lys170Thr)
19g.13025325A>GCA404314384NFIXc.329A>G (p.Lys110Arg)
c.150A>G
c.332A>G (p.Lys111Arg)
c.356A>G (p.Lys119Arg)
c.341A>G (p.Lys114Arg)
c.191A>G (p.Lys64Arg)
c.308A>G (p.Lys103Arg)
c.*163A>G (n.*163A>G)
c.380A>G (p.Lys127Arg)
c.509A>G (p.Lys170Arg)
19g.13025325A>TCA404314385NFIXc.329A>T (p.Lys110Met)
c.150A>T
c.332A>T (p.Lys111Met)
c.356A>T (p.Lys119Met)
c.341A>T (p.Lys114Met)
c.191A>T (p.Lys64Met)
c.308A>T (p.Lys103Met)
c.*163A>T (n.*163A>T)
c.380A>T (p.Lys127Met)
c.509A>T (p.Lys170Met)
19g.13025326G>ACA505781289NFIXc.330G>A (p.Lys110=)
c.151G>A
c.333G>A (p.Lys111=)
c.357G>A (p.Lys119=)
c.342G>A (p.Lys114=)
c.192G>A (p.Lys64=)
c.309G>A (p.Lys103=)
c.*164G>A (n.*164G>A)
c.381G>A (p.Lys127=)
c.510G>A (p.Lys170=)
 COSMIC COSMIC
19g.13025326G>CCA404314386NFIXc.330G>C (p.Lys110Asn)
c.151G>C
c.333G>C (p.Lys111Asn)
c.357G>C (p.Lys119Asn)
c.342G>C (p.Lys114Asn)
c.192G>C (p.Lys64Asn)
c.309G>C (p.Lys103Asn)
c.*164G>C (n.*164G>C)
c.381G>C (p.Lys127Asn)
c.510G>C (p.Lys170Asn)
19g.13025326G>TCA404314388NFIXc.330G>T (p.Lys110Asn)
c.151G>T
c.333G>T (p.Lys111Asn)
c.357G>T (p.Lys119Asn)
c.342G>T (p.Lys114Asn)
c.192G>T (p.Lys64Asn)
c.309G>T (p.Lys103Asn)
c.*164G>T (n.*164G>T)
c.381G>T (p.Lys127Asn)
c.510G>T (p.Lys170Asn)
19g.13025327G>ACA404314394NFIXc.331G>A (p.Gly111Ser)
c.152G>A
c.334G>A (p.Gly112Ser)
c.358G>A (p.Gly120Ser)
c.343G>A (p.Gly115Ser)
c.193G>A (p.Gly65Ser)
c.310G>A (p.Gly104Ser)
c.*165G>A (n.*165G>A)
c.382G>A (p.Gly128Ser)
c.511G>A (p.Gly171Ser)
19g.13025327G>CCA404314395NFIXc.331G>C (p.Gly111Arg)
c.152G>C
c.334G>C (p.Gly112Arg)
c.358G>C (p.Gly120Arg)
c.343G>C (p.Gly115Arg)
c.193G>C (p.Gly65Arg)
c.310G>C (p.Gly104Arg)
c.*165G>C (n.*165G>C)
c.382G>C (p.Gly128Arg)
c.511G>C (p.Gly171Arg)
19g.13025327G>TCA404314401NFIXc.331G>T (p.Gly111Cys)
c.152G>T
c.334G>T (p.Gly112Cys)
c.358G>T (p.Gly120Cys)
c.343G>T (p.Gly115Cys)
c.193G>T (p.Gly65Cys)
c.310G>T (p.Gly104Cys)
c.*165G>T (n.*165G>T)
c.382G>T (p.Gly128Cys)
c.511G>T (p.Gly171Cys)
19g.13025328G>ACA404314404NFIXc.332G>A (p.Gly111Asp)
c.153G>A
c.335G>A (p.Gly112Asp)
c.359G>A (p.Gly120Asp)
c.344G>A (p.Gly115Asp)
c.194G>A (p.Gly65Asp)
c.311G>A (p.Gly104Asp)
c.*166G>A (n.*166G>A)
c.383G>A (p.Gly128Asp)
c.512G>A (p.Gly171Asp)
19g.13025328G>CCA404314406NFIXc.332G>C (p.Gly111Ala)
c.153G>C
c.335G>C (p.Gly112Ala)
c.359G>C (p.Gly120Ala)
c.344G>C (p.Gly115Ala)
c.194G>C (p.Gly65Ala)
c.311G>C (p.Gly104Ala)
c.*166G>C (n.*166G>C)
c.383G>C (p.Gly128Ala)
c.512G>C (p.Gly171Ala)
19g.13025328G>TCA404314402NFIXc.332G>T (p.Gly111Val)
c.153G>T
c.335G>T (p.Gly112Val)
c.359G>T (p.Gly120Val)
c.344G>T (p.Gly115Val)
c.194G>T (p.Gly65Val)
c.311G>T (p.Gly104Val)
c.*166G>T (n.*166G>T)
c.383G>T (p.Gly128Val)
c.512G>T (p.Gly171Val)
 ClinVar dbSNP
19g.13025329C>ACA505780740NFIXc.333C>A (p.Gly111=)
c.154C>A
c.336C>A (p.Gly112=)
c.360C>A (p.Gly120=)
c.345C>A (p.Gly115=)
c.195C>A (p.Gly65=)
c.312C>A (p.Gly104=)
c.*167C>A (n.*167C>A)
c.384C>A (p.Gly128=)
c.513C>A (p.Gly171=)
 gnomAD v4
19g.13025329C>GCA505780741NFIXc.333C>G (p.Gly111=)
c.154C>G
c.336C>G (p.Gly112=)
c.360C>G (p.Gly120=)
c.345C>G (p.Gly115=)
c.195C>G (p.Gly65=)
c.312C>G (p.Gly104=)
c.*167C>G (n.*167C>G)
c.384C>G (p.Gly128=)
c.513C>G (p.Gly171=)
19g.13025329C>TCA505780742NFIXc.333C>T (p.Gly111=)
c.154C>T
c.336C>T (p.Gly112=)
c.360C>T (p.Gly120=)
c.345C>T (p.Gly115=)
c.195C>T (p.Gly65=)
c.312C>T (p.Gly104=)
c.*167C>T (n.*167C>T)
c.384C>T (p.Gly128=)
c.513C>T (p.Gly171=)
 ClinVar
19g.13025330A=CA2323688902NFIXc.334A= (p.Lys112=)
c.155A=
c.337A= (p.Lys113=)
c.361A= (p.Lys121=)
c.346A= (p.Lys116=)
c.196A= (p.Lys66=)
c.313A= (p.Lys105=)
c.*168A= (n.*168A=)
c.385A= (p.Lys129=)
c.514A= (p.Lys172=)
19g.13025330A>CCA404314414NFIXc.334A>C (p.Lys112Gln)
c.155A>C
c.337A>C (p.Lys113Gln)
c.361A>C (p.Lys121Gln)
c.346A>C (p.Lys116Gln)
c.196A>C (p.Lys66Gln)
c.313A>C (p.Lys105Gln)
c.*168A>C (n.*168A>C)
c.385A>C (p.Lys129Gln)
c.514A>C (p.Lys172Gln)
19g.13025330A>GCA404314422NFIXc.334A>G (p.Lys112Glu)
c.155A>G
c.337A>G (p.Lys113Glu)
c.361A>G (p.Lys121Glu)
c.346A>G (p.Lys116Glu)
c.196A>G (p.Lys66Glu)
c.313A>G (p.Lys105Glu)
c.*168A>G (n.*168A>G)
c.385A>G (p.Lys129Glu)
c.514A>G (p.Lys172Glu)
 ClinVar dbSNP
19g.13025330A>TCA404314424NFIXc.334A>T (p.Lys112Ter)
c.155A>T
c.337A>T (p.Lys113Ter)
c.361A>T (p.Lys121Ter)
c.346A>T (p.Lys116Ter)
c.196A>T (p.Lys66Ter)
c.313A>T (p.Lys105Ter)
c.*168A>T (n.*168A>T)
c.385A>T (p.Lys129Ter)
c.514A>T (p.Lys172Ter)
19g.13025331A>CCA404314429NFIXc.335A>C (p.Lys112Thr)
c.156A>C
c.338A>C (p.Lys113Thr)
c.362A>C (p.Lys121Thr)
c.347A>C (p.Lys116Thr)
c.197A>C (p.Lys66Thr)
c.314A>C (p.Lys105Thr)
c.*169A>C (n.*169A>C)
c.386A>C (p.Lys129Thr)
c.515A>C (p.Lys172Thr)
19g.13025331A>GCA404314446NFIXc.335A>G (p.Lys112Arg)
c.156A>G
c.338A>G (p.Lys113Arg)
c.362A>G (p.Lys121Arg)
c.347A>G (p.Lys116Arg)
c.197A>G (p.Lys66Arg)
c.314A>G (p.Lys105Arg)
c.*169A>G (n.*169A>G)
c.386A>G (p.Lys129Arg)
c.515A>G (p.Lys172Arg)
19g.13025331A>TCA404314453NFIXc.335A>T (p.Lys112Met)
c.156A>T
c.338A>T (p.Lys113Met)
c.362A>T (p.Lys121Met)
c.347A>T (p.Lys116Met)
c.197A>T (p.Lys66Met)
c.314A>T (p.Lys105Met)
c.*169A>T (n.*169A>T)
c.386A>T (p.Lys129Met)
c.515A>T (p.Lys172Met)
19g.13025332_13025333dupCA2580096549NFIXc.336_337dup (p.Ile113ArgfsTer22)
c.157_158dup
c.339_340dup (p.Ile114ArgfsTer22)
c.363_364dup (p.Ile122ArgfsTer22)
c.348_349dup (p.Ile117ArgfsTer22)
c.198_199dup (p.Ile67ArgfsTer19)
c.315_316dup (p.Ile106ArgfsTer22)
c.*170_*171dup (n.*170_*171dup)
c.198_199dup (p.Ile67ArgfsTer22)
c.387_388dup (p.Ile130ArgfsTer22)
c.516_517dup (p.Ile173ArgfsTer22)
 ClinVar
19g.13025331_13025335dupCA250382NFIXc.335_339dup (p.Arg115SerfsTer21)
c.156_160dup
c.338_342dup (p.Arg116SerfsTer21)
c.362_366dup (p.Arg124SerfsTer21)
c.347_351dup (p.Arg119SerfsTer21)
c.197_201dup (p.Arg69SerfsTer18)
c.314_318dup (p.Arg108SerfsTer21)
c.*169_*173dup (n.*169_*173dup)
c.197_201dup (p.Arg69SerfsTer21)
c.386_390dup (p.Arg132SerfsTer21)
c.515_519dup (p.Arg175SerfsTer21)
 ClinVar dbSNP
19g.13025332G>ACA505780743NFIXc.336G>A (p.Lys112=)
c.157G>A
c.339G>A (p.Lys113=)
c.363G>A (p.Lys121=)
c.348G>A (p.Lys116=)
c.198G>A (p.Lys66=)
c.315G>A (p.Lys105=)
c.*170G>A (n.*170G>A)
c.387G>A (p.Lys129=)
c.516G>A (p.Lys172=)
 gnomAD v4
19g.13025332G>CCA404314464NFIXc.336G>C (p.Lys112Asn)
c.157G>C
c.339G>C (p.Lys113Asn)
c.363G>C (p.Lys121Asn)
c.348G>C (p.Lys116Asn)
c.198G>C (p.Lys66Asn)
c.315G>C (p.Lys105Asn)
c.*170G>C (n.*170G>C)
c.387G>C (p.Lys129Asn)
c.516G>C (p.Lys172Asn)
19g.13025332G>TCA404314467NFIXc.336G>T (p.Lys112Asn)
c.157G>T
c.339G>T (p.Lys113Asn)
c.363G>T (p.Lys121Asn)
c.348G>T (p.Lys116Asn)
c.198G>T (p.Lys66Asn)
c.315G>T (p.Lys105Asn)
c.*170G>T (n.*170G>T)
c.387G>T (p.Lys129Asn)
c.516G>T (p.Lys172Asn)
19g.13025333A>CCA404314472NFIXc.337A>C (p.Ile113Leu)
c.158A>C
c.340A>C (p.Ile114Leu)
c.364A>C (p.Ile122Leu)
c.349A>C (p.Ile117Leu)
c.199A>C (p.Ile67Leu)
c.316A>C (p.Ile106Leu)
c.*171A>C (n.*171A>C)
c.388A>C (p.Ile130Leu)
c.517A>C (p.Ile173Leu)
19g.13025333A>GCA404314476NFIXc.337A>G (p.Ile113Val)
c.158A>G
c.340A>G (p.Ile114Val)
c.364A>G (p.Ile122Val)
c.349A>G (p.Ile117Val)
c.199A>G (p.Ile67Val)
c.316A>G (p.Ile106Val)
c.*171A>G (n.*171A>G)
c.388A>G (p.Ile130Val)
c.517A>G (p.Ile173Val)
19g.13025333A>TCA404314479NFIXc.337A>T (p.Ile113Phe)
c.158A>T
c.340A>T (p.Ile114Phe)
c.364A>T (p.Ile122Phe)
c.349A>T (p.Ile117Phe)
c.199A>T (p.Ile67Phe)
c.316A>T (p.Ile106Phe)
c.*171A>T (n.*171A>T)
c.388A>T (p.Ile130Phe)
c.517A>T (p.Ile173Phe)
19g.13025334T>ACA404314489NFIXc.338T>A (p.Ile113Asn)
c.159T>A
c.341T>A (p.Ile114Asn)
c.365T>A (p.Ile122Asn)
c.350T>A (p.Ile117Asn)
c.200T>A (p.Ile67Asn)
c.317T>A (p.Ile106Asn)
c.*172T>A (n.*172T>A)
c.389T>A (p.Ile130Asn)
c.518T>A (p.Ile173Asn)
19g.13025334T>CCA404314492NFIXc.338T>C (p.Ile113Thr)
c.159T>C
c.341T>C (p.Ile114Thr)
c.365T>C (p.Ile122Thr)
c.350T>C (p.Ile117Thr)
c.200T>C (p.Ile67Thr)
c.317T>C (p.Ile106Thr)
c.*172T>C (n.*172T>C)
c.389T>C (p.Ile130Thr)
c.518T>C (p.Ile173Thr)
19g.13025334T>GCA404314486NFIXc.338T>G (p.Ile113Ser)
c.159T>G
c.341T>G (p.Ile114Ser)
c.365T>G (p.Ile122Ser)
c.350T>G (p.Ile117Ser)
c.200T>G (p.Ile67Ser)
c.317T>G (p.Ile106Ser)
c.*172T>G (n.*172T>G)
c.389T>G (p.Ile130Ser)
c.518T>G (p.Ile173Ser)
19g.13025335C>ACA505780744NFIXc.339C>A (p.Ile113=)
c.160C>A
c.342C>A (p.Ile114=)
c.366C>A (p.Ile122=)
c.351C>A (p.Ile117=)
c.201C>A (p.Ile67=)
c.318C>A (p.Ile106=)
c.*173C>A (n.*173C>A)
c.390C>A (p.Ile130=)
c.519C>A (p.Ile173=)
19g.13025335C>GCA404314499NFIXc.339C>G (p.Ile113Met)
c.160C>G
c.342C>G (p.Ile114Met)
c.366C>G (p.Ile122Met)
c.351C>G (p.Ile117Met)
c.201C>G (p.Ile67Met)
c.318C>G (p.Ile106Met)
c.*173C>G (n.*173C>G)
c.390C>G (p.Ile130Met)
c.519C>G (p.Ile173Met)
19g.13025335C>TCA505780745NFIXc.339C>T (p.Ile113=)
c.160C>T
c.342C>T (p.Ile114=)
c.366C>T (p.Ile122=)
c.351C>T (p.Ile117=)
c.201C>T (p.Ile67=)
c.318C>T (p.Ile106=)
c.*173C>T (n.*173C>T)
c.390C>T (p.Ile130=)
c.519C>T (p.Ile173=)
 gnomAD v4
19g.13025336C>ACA505780746NFIXc.340C>A (p.Arg114=)
c.161C>A
c.343C>A (p.Arg115=)
c.367C>A (p.Arg123=)
c.352C>A (p.Arg118=)
c.202C>A (p.Arg68=)
c.319C>A (p.Arg107=)
c.*174C>A (n.*174C>A)
c.391C>A (p.Arg131=)
c.520C>A (p.Arg174=)
19g.13025336C>GCA404314503NFIXc.340C>G (p.Arg114Gly)
c.161C>G
c.343C>G (p.Arg115Gly)
c.367C>G (p.Arg123Gly)
c.352C>G (p.Arg118Gly)
c.202C>G (p.Arg68Gly)
c.319C>G (p.Arg107Gly)
c.*174C>G (n.*174C>G)
c.391C>G (p.Arg131Gly)
c.520C>G (p.Arg174Gly)
19g.13025336C>TCA404314504NFIXc.340C>T (p.Arg114Trp)
c.161C>T
c.343C>T (p.Arg115Trp)
c.367C>T (p.Arg123Trp)
c.352C>T (p.Arg118Trp)
c.202C>T (p.Arg68Trp)
c.319C>T (p.Arg107Trp)
c.*174C>T (n.*174C>T)
c.391C>T (p.Arg131Trp)
c.520C>T (p.Arg174Trp)
19g.13025337G>ACA404314506NFIXc.341G>A (p.Arg114Gln)
c.162G>A
c.344G>A (p.Arg115Gln)
c.368G>A (p.Arg123Gln)
c.353G>A (p.Arg118Gln)
c.203G>A (p.Arg68Gln)
c.320G>A (p.Arg107Gln)
c.*175G>A (n.*175G>A)
c.392G>A (p.Arg131Gln)
c.521G>A (p.Arg174Gln)
 ClinVar dbSNP
19g.13025337G>CCA404314509NFIXc.341G>C (p.Arg114Pro)
c.162G>C
c.344G>C (p.Arg115Pro)
c.368G>C (p.Arg123Pro)
c.353G>C (p.Arg118Pro)
c.203G>C (p.Arg68Pro)
c.320G>C (p.Arg107Pro)
c.*175G>C (n.*175G>C)
c.392G>C (p.Arg131Pro)
c.521G>C (p.Arg174Pro)
19g.13025337G=CA2323688903NFIXc.341G= (p.Arg114=)
c.162G=
c.344G= (p.Arg115=)
c.368G= (p.Arg123=)
c.353G= (p.Arg118=)
c.203G= (p.Arg68=)
c.320G= (p.Arg107=)
c.*175G= (n.*175G=)
c.392G= (p.Arg131=)
c.521G= (p.Arg174=)
19g.13025337G>TCA404314510NFIXc.341G>T (p.Arg114Leu)
c.162G>T
c.344G>T (p.Arg115Leu)
c.368G>T (p.Arg123Leu)
c.353G>T (p.Arg118Leu)
c.203G>T (p.Arg68Leu)
c.320G>T (p.Arg107Leu)
c.*175G>T (n.*175G>T)
c.392G>T (p.Arg131Leu)
c.521G>T (p.Arg174Leu)
 COSMIC COSMIC COSMIC
19g.13025338G>ACA505780749NFIXc.342G>A (p.Arg114=)
c.163G>A
c.345G>A (p.Arg115=)
c.369G>A (p.Arg123=)
c.354G>A (p.Arg118=)
c.204G>A (p.Arg68=)
c.321G>A (p.Arg107=)
c.*176G>A (n.*176G>A)
c.393G>A (p.Arg131=)
c.522G>A (p.Arg174=)
19g.13025338G>CCA505780748NFIXc.342G>C (p.Arg114=)
c.163G>C
c.345G>C (p.Arg115=)
c.369G>C (p.Arg123=)
c.354G>C (p.Arg118=)
c.204G>C (p.Arg68=)
c.321G>C (p.Arg107=)
c.*176G>C (n.*176G>C)
c.393G>C (p.Arg131=)
c.522G>C (p.Arg174=)
19g.13025338G>TCA505780747NFIXc.342G>T (p.Arg114=)
c.163G>T
c.345G>T (p.Arg115=)
c.369G>T (p.Arg123=)
c.354G>T (p.Arg118=)
c.204G>T (p.Arg68=)
c.321G>T (p.Arg107=)
c.*176G>T (n.*176G>T)
c.393G>T (p.Arg131=)
c.522G>T (p.Arg174=)
19g.13025339C>ACA505780750NFIXc.343C>A (p.Arg115=)
c.164C>A
c.346C>A (p.Arg116=)
c.370C>A (p.Arg124=)
c.355C>A (p.Arg119=)
c.205C>A (p.Arg69=)
c.322C>A (p.Arg108=)
c.*177C>A (n.*177C>A)
c.394C>A (p.Arg132=)
c.523C>A (p.Arg175=)
 gnomAD v4
19g.13025339C=CA2323688904NFIXc.343C= (p.Arg115=)
c.164C=
c.346C= (p.Arg116=)
c.370C= (p.Arg124=)
c.355C= (p.Arg119=)
c.205C= (p.Arg69=)
c.322C= (p.Arg108=)
c.*177C= (n.*177C=)
c.394C= (p.Arg132=)
c.523C= (p.Arg175=)
19g.13025339C>GCA404314511NFIXc.343C>G (p.Arg115Gly)
c.164C>G
c.346C>G (p.Arg116Gly)
c.370C>G (p.Arg124Gly)
c.355C>G (p.Arg119Gly)
c.205C>G (p.Arg69Gly)
c.322C>G (p.Arg108Gly)
c.*177C>G (n.*177C>G)
c.394C>G (p.Arg132Gly)
c.523C>G (p.Arg175Gly)
19g.13025339C>TCA404314512NFIXc.343C>T (p.Arg115Trp)
c.164C>T
c.346C>T (p.Arg116Trp)
c.370C>T (p.Arg124Trp)
c.355C>T (p.Arg119Trp)
c.205C>T (p.Arg69Trp)
c.322C>T (p.Arg108Trp)
c.*177C>T (n.*177C>T)
c.394C>T (p.Arg132Trp)
c.523C>T (p.Arg175Trp)
 ClinVar dbSNP
19g.[13025339C>T;13025341G>A]CA658832946NFIXc.[343C>T;345G>A] (p.[Arg115Trp;Arg115=])
c.[164C>T;166G>A]
c.[346C>T;348G>A] (p.[Arg116Trp;Arg116=])
c.[370C>T;372G>A] (p.[Arg124Trp;Arg124=])
c.[355C>T;357G>A] (p.[Arg119Trp;Arg119=])
c.[205C>T;207G>A] (p.[Arg69Trp;Arg69=])
c.[322C>T;324G>A] (p.[Arg108Trp;Arg108=])
c.[*177C>T;*179G>A] (n.[*177C>T;*179G>A])
c.[394C>T;396G>A] (p.[Arg132Trp;Arg132=])
c.[523C>T;525G>A] (p.[Arg175Trp;Arg175=])
 ClinVar
19g.13025339_13025341delinsTGACA2695228219NFIXc.343_345delinsTGA (p.Arg115Ter)
c.164_166delinsTGA
c.346_348delinsTGA (p.Arg116Ter)
c.370_372delinsTGA (p.Arg124Ter)
c.355_357delinsTGA (p.Arg119Ter)
c.205_207delinsTGA (p.Arg69Ter)
c.322_324delinsTGA (p.Arg108Ter)
c.*177_*179delinsTGA (n.*177_*179delinsTGA)
c.394_396delinsTGA (p.Arg132Ter)
c.523_525delinsTGA (p.Arg175Ter)
19g.13025340G>ACA404314517NFIXc.344G>A (p.Arg115Gln)
c.165G>A
c.347G>A (p.Arg116Gln)
c.371G>A (p.Arg124Gln)
c.356G>A (p.Arg119Gln)
c.206G>A (p.Arg69Gln)
c.323G>A (p.Arg108Gln)
c.*178G>A (n.*178G>A)
c.395G>A (p.Arg132Gln)
c.524G>A (p.Arg175Gln)
 ClinVar dbSNP
19g.13025340G>CCA404314518NFIXc.344G>C (p.Arg115Pro)
c.165G>C
c.347G>C (p.Arg116Pro)
c.371G>C (p.Arg124Pro)
c.356G>C (p.Arg119Pro)
c.206G>C (p.Arg69Pro)
c.323G>C (p.Arg108Pro)
c.*178G>C (n.*178G>C)
c.395G>C (p.Arg132Pro)
c.524G>C (p.Arg175Pro)
 ClinVar
19g.13025340G>TCA404314519NFIXc.344G>T (p.Arg115Leu)
c.165G>T
c.347G>T (p.Arg116Leu)
c.371G>T (p.Arg124Leu)
c.356G>T (p.Arg119Leu)
c.206G>T (p.Arg69Leu)
c.323G>T (p.Arg108Leu)
c.*178G>T (n.*178G>T)
c.395G>T (p.Arg132Leu)
c.524G>T (p.Arg175Leu)
 COSMIC COSMIC COSMIC
19g.13025341G>ACA505780751NFIXc.345G>A (p.Arg115=)
c.166G>A
c.348G>A (p.Arg116=)
c.372G>A (p.Arg124=)
c.357G>A (p.Arg119=)
c.207G>A (p.Arg69=)
c.324G>A (p.Arg108=)
c.*179G>A (n.*179G>A)
c.396G>A (p.Arg132=)
c.525G>A (p.Arg175=)
 dbSNP
19g.13025341G>CCA505780752NFIXc.345G>C (p.Arg115=)
c.166G>C
c.348G>C (p.Arg116=)
c.372G>C (p.Arg124=)
c.357G>C (p.Arg119=)
c.207G>C (p.Arg69=)
c.324G>C (p.Arg108=)
c.*179G>C (n.*179G>C)
c.396G>C (p.Arg132=)
c.525G>C (p.Arg175=)
 ClinVar dbSNP gnomAD v4
19g.13025341G=CA2323688905NFIXc.345G= (p.Arg115=)
c.166G=
c.348G= (p.Arg116=)
c.372G= (p.Arg124=)
c.357G= (p.Arg119=)
c.207G= (p.Arg69=)
c.324G= (p.Arg108=)
c.*179G= (n.*179G=)
c.396G= (p.Arg132=)
c.525G= (p.Arg175=)
19g.13025341G>TCA505780753NFIXc.345G>T (p.Arg115=)
c.166G>T
c.348G>T (p.Arg116=)
c.372G>T (p.Arg124=)
c.357G>T (p.Arg119=)
c.207G>T (p.Arg69=)
c.324G>T (p.Arg108=)
c.*179G>T (n.*179G>T)
c.396G>T (p.Arg132=)
c.525G>T (p.Arg175=)
19g.13025342A>CCA404314520NFIXc.346A>C (p.Ile116Leu)
c.167A>C
c.349A>C (p.Ile117Leu)
c.373A>C (p.Ile125Leu)
c.358A>C (p.Ile120Leu)
c.208A>C (p.Ile70Leu)
c.325A>C (p.Ile109Leu)
c.*180A>C (n.*180A>C)
c.397A>C (p.Ile133Leu)
c.526A>C (p.Ile176Leu)
19g.13025342A>GCA404314523NFIXc.346A>G (p.Ile116Val)
c.167A>G
c.349A>G (p.Ile117Val)
c.373A>G (p.Ile125Val)
c.358A>G (p.Ile120Val)
c.208A>G (p.Ile70Val)
c.325A>G (p.Ile109Val)
c.*180A>G (n.*180A>G)
c.397A>G (p.Ile133Val)
c.526A>G (p.Ile176Val)
19g.13025342A>TCA404314525NFIXc.346A>T (p.Ile116Phe)
c.167A>T
c.349A>T (p.Ile117Phe)
c.373A>T (p.Ile125Phe)
c.358A>T (p.Ile120Phe)
c.208A>T (p.Ile70Phe)
c.325A>T (p.Ile109Phe)
c.*180A>T (n.*180A>T)
c.397A>T (p.Ile133Phe)
c.526A>T (p.Ile176Phe)
19g.13025343T>ACA404314528NFIXc.347T>A (p.Ile116Asn)
c.168T>A
c.350T>A (p.Ile117Asn)
c.374T>A (p.Ile125Asn)
c.359T>A (p.Ile120Asn)
c.209T>A (p.Ile70Asn)
c.326T>A (p.Ile109Asn)
c.*181T>A (n.*181T>A)
c.398T>A (p.Ile133Asn)
c.527T>A (p.Ile176Asn)
19g.13025343T>CCA404314530NFIXc.347T>C (p.Ile116Thr)
c.168T>C
c.350T>C (p.Ile117Thr)
c.374T>C (p.Ile125Thr)
c.359T>C (p.Ile120Thr)
c.209T>C (p.Ile70Thr)
c.326T>C (p.Ile109Thr)
c.*181T>C (n.*181T>C)
c.398T>C (p.Ile133Thr)
c.527T>C (p.Ile176Thr)
19g.13025343T>GCA404314527NFIXc.347T>G (p.Ile116Ser)
c.168T>G
c.350T>G (p.Ile117Ser)
c.374T>G (p.Ile125Ser)
c.359T>G (p.Ile120Ser)
c.209T>G (p.Ile70Ser)
c.326T>G (p.Ile109Ser)
c.*181T>G (n.*181T>G)
c.398T>G (p.Ile133Ser)
c.527T>G (p.Ile176Ser)
19g.13025343_13025360delCA2813656097NFIXc.347_364del (p.Ile116_Ala122delinsThr)
c.168_185del
c.350_367del (p.Ile117_Ala123delinsThr)
c.374_391del (p.Ile125_Ala131delinsThr)
c.359_376del (p.Ile120_Ala126delinsThr)
c.209_226del (p.Ile70_Ala76delinsThr)
c.326_343del (p.Ile109_Ala115delinsThr)
c.*181_*198del (n.*181_*198del)
c.398_415del (p.Ile133_Ala139delinsThr)
c.527_544del (p.Ile176_Ala182delinsThr)
19g.13025344T>ACA505780754NFIXc.348T>A (p.Ile116=)
c.169T>A
c.351T>A (p.Ile117=)
c.375T>A (p.Ile125=)
c.360T>A (p.Ile120=)
c.210T>A (p.Ile70=)
c.327T>A (p.Ile109=)
c.*182T>A (n.*182T>A)
c.399T>A (p.Ile133=)
c.528T>A (p.Ile176=)
19g.13025344T>CCA505780755NFIXc.348T>C (p.Ile116=)
c.169T>C
c.351T>C (p.Ile117=)
c.375T>C (p.Ile125=)
c.360T>C (p.Ile120=)
c.210T>C (p.Ile70=)
c.327T>C (p.Ile109=)
c.*182T>C (n.*182T>C)
c.399T>C (p.Ile133=)
c.528T>C (p.Ile176=)
19g.13025344T>GCA404314540NFIXc.348T>G (p.Ile116Met)
c.169T>G
c.351T>G (p.Ile117Met)
c.375T>G (p.Ile125Met)
c.360T>G (p.Ile120Met)
c.210T>G (p.Ile70Met)
c.327T>G (p.Ile109Met)
c.*182T>G (n.*182T>G)
c.399T>G (p.Ile133Met)
c.528T>G (p.Ile176Met)
 dbSNP
19g.13025344T=CA2323688906NFIXc.348T= (p.Ile116=)
c.169T=
c.351T= (p.Ile117=)
c.375T= (p.Ile125=)
c.360T= (p.Ile120=)
c.210T= (p.Ile70=)
c.327T= (p.Ile109=)
c.*182T= (n.*182T=)
c.399T= (p.Ile133=)
c.528T= (p.Ile176=)
19g.13025345G>ACA404314543NFIXc.349G>A (p.Asp117Asn)
c.170G>A
c.352G>A (p.Asp118Asn)
c.376G>A (p.Asp126Asn)
c.361G>A (p.Asp121Asn)
c.211G>A (p.Asp71Asn)
c.328G>A (p.Asp110Asn)
c.*183G>A (n.*183G>A)
c.400G>A (p.Asp134Asn)
c.529G>A (p.Asp177Asn)
19g.13025345G>CCA404314545NFIXc.349G>C (p.Asp117His)
c.170G>C
c.352G>C (p.Asp118His)
c.376G>C (p.Asp126His)
c.361G>C (p.Asp121His)
c.211G>C (p.Asp71His)
c.328G>C (p.Asp110His)
c.*183G>C (n.*183G>C)
c.400G>C (p.Asp134His)
c.529G>C (p.Asp177His)
19g.13025345G>TCA404314556NFIXc.349G>T (p.Asp117Tyr)
c.170G>T
c.352G>T (p.Asp118Tyr)
c.376G>T (p.Asp126Tyr)
c.361G>T (p.Asp121Tyr)
c.211G>T (p.Asp71Tyr)
c.328G>T (p.Asp110Tyr)
c.*183G>T (n.*183G>T)
c.400G>T (p.Asp134Tyr)
c.529G>T (p.Asp177Tyr)
19g.13025346A=CA2323688907NFIXc.350A= (p.Asp117=)
c.171A=
c.353A= (p.Asp118=)
c.377A= (p.Asp126=)
c.362A= (p.Asp121=)
c.212A= (p.Asp71=)
c.329A= (p.Asp110=)
c.*184A= (n.*184A=)
c.401A= (p.Asp134=)
c.530A= (p.Asp177=)
19g.13025346A>CCA404314559NFIXc.350A>C (p.Asp117Ala)
c.171A>C
c.353A>C (p.Asp118Ala)
c.377A>C (p.Asp126Ala)
c.362A>C (p.Asp121Ala)
c.212A>C (p.Asp71Ala)
c.329A>C (p.Asp110Ala)
c.*184A>C (n.*184A>C)
c.401A>C (p.Asp134Ala)
c.530A>C (p.Asp177Ala)
19g.13025346A>GCA404314560NFIXc.350A>G (p.Asp117Gly)
c.171A>G
c.353A>G (p.Asp118Gly)
c.377A>G (p.Asp126Gly)
c.362A>G (p.Asp121Gly)
c.212A>G (p.Asp71Gly)
c.329A>G (p.Asp110Gly)
c.*184A>G (n.*184A>G)
c.401A>G (p.Asp134Gly)
c.530A>G (p.Asp177Gly)
 dbSNP gnomAD v2
19g.13025346A>TCA404314561NFIXc.350A>T (p.Asp117Val)
c.171A>T
c.353A>T (p.Asp118Val)
c.377A>T (p.Asp126Val)
c.362A>T (p.Asp121Val)
c.212A>T (p.Asp71Val)
c.329A>T (p.Asp110Val)
c.*184A>T (n.*184A>T)
c.401A>T (p.Asp134Val)
c.530A>T (p.Asp177Val)
19g.13025347C>ACA404314562NFIXc.351C>A (p.Asp117Glu)
c.172C>A
c.354C>A (p.Asp118Glu)
c.378C>A (p.Asp126Glu)
c.363C>A (p.Asp121Glu)
c.213C>A (p.Asp71Glu)
c.330C>A (p.Asp110Glu)
c.*185C>A (n.*185C>A)
c.402C>A (p.Asp134Glu)
c.531C>A (p.Asp177Glu)
19g.13025347C>GCA404314563NFIXc.351C>G (p.Asp117Glu)
c.172C>G
c.354C>G (p.Asp118Glu)
c.378C>G (p.Asp126Glu)
c.363C>G (p.Asp121Glu)
c.213C>G (p.Asp71Glu)
c.330C>G (p.Asp110Glu)
c.*185C>G (n.*185C>G)
c.402C>G (p.Asp134Glu)
c.531C>G (p.Asp177Glu)
19g.13025347C>TCA505780756NFIXc.351C>T (p.Asp117=)
c.172C>T
c.354C>T (p.Asp118=)
c.378C>T (p.Asp126=)
c.363C>T (p.Asp121=)
c.213C>T (p.Asp71=)
c.330C>T (p.Asp110=)
c.*185C>T (n.*185C>T)
c.402C>T (p.Asp134=)
c.531C>T (p.Asp177=)
19g.13025348T>ACA404314565NFIXc.352T>A (p.Cys118Ser)
c.173T>A
c.355T>A (p.Cys119Ser)
c.379T>A (p.Cys127Ser)
c.364T>A (p.Cys122Ser)
c.214T>A (p.Cys72Ser)
c.331T>A (p.Cys111Ser)
c.*186T>A (n.*186T>A)
c.403T>A (p.Cys135Ser)
c.532T>A (p.Cys178Ser)
 COSMIC COSMIC COSMIC COSMIC
19g.13025348T>CCA404314566NFIXc.352T>C (p.Cys118Arg)
c.173T>C
c.355T>C (p.Cys119Arg)
c.379T>C (p.Cys127Arg)
c.364T>C (p.Cys122Arg)
c.214T>C (p.Cys72Arg)
c.331T>C (p.Cys111Arg)
c.*186T>C (n.*186T>C)
c.403T>C (p.Cys135Arg)
c.532T>C (p.Cys178Arg)
 ClinVar
19g.13025348T>GCA404314567NFIXc.352T>G (p.Cys118Gly)
c.173T>G
c.355T>G (p.Cys119Gly)
c.379T>G (p.Cys127Gly)
c.364T>G (p.Cys122Gly)
c.214T>G (p.Cys72Gly)
c.331T>G (p.Cys111Gly)
c.*186T>G (n.*186T>G)
c.403T>G (p.Cys135Gly)
c.532T>G (p.Cys178Gly)
19g.13025349G>ACA404314570NFIXc.353G>A (p.Cys118Tyr)
c.174G>A
c.356G>A (p.Cys119Tyr)
c.380G>A (p.Cys127Tyr)
c.365G>A (p.Cys122Tyr)
c.215G>A (p.Cys72Tyr)
c.332G>A (p.Cys111Tyr)
c.*187G>A (n.*187G>A)
c.404G>A (p.Cys135Tyr)
c.533G>A (p.Cys178Tyr)
19g.13025349G>CCA404314572NFIXc.353G>C (p.Cys118Ser)
c.174G>C
c.356G>C (p.Cys119Ser)
c.380G>C (p.Cys127Ser)
c.365G>C (p.Cys122Ser)
c.215G>C (p.Cys72Ser)
c.332G>C (p.Cys111Ser)
c.*187G>C (n.*187G>C)
c.404G>C (p.Cys135Ser)
c.533G>C (p.Cys178Ser)
19g.13025349G>TCA404314573NFIXc.353G>T (p.Cys118Phe)
c.174G>T
c.356G>T (p.Cys119Phe)
c.380G>T (p.Cys127Phe)
c.365G>T (p.Cys122Phe)
c.215G>T (p.Cys72Phe)
c.332G>T (p.Cys111Phe)
c.*187G>T (n.*187G>T)
c.404G>T (p.Cys135Phe)
c.533G>T (p.Cys178Phe)
19g.13025349_13025350delinsGCCA2323688908NFIXc.353_354delinsGC (p.Cys118=)
c.174_175delinsGC
c.356_357delinsGC (p.Cys119=)
c.380_381delinsGC (p.Cys127=)
c.365_366delinsGC (p.Cys122=)
c.215_216delinsGC (p.Cys72=)
c.332_333delinsGC (p.Cys111=)
c.*187_*188delinsGC (n.*187_*188delinsGC)
c.404_405delinsGC (p.Cys135=)
c.533_534delinsGC (p.Cys178=)
19g.13025350C>ACA404314576NFIXc.354C>A (p.Cys118Ter)
c.175C>A
c.357C>A (p.Cys119Ter)
c.381C>A (p.Cys127Ter)
c.366C>A (p.Cys122Ter)
c.216C>A (p.Cys72Ter)
c.333C>A (p.Cys111Ter)
c.*188C>A (n.*188C>A)
c.405C>A (p.Cys135Ter)
c.534C>A (p.Cys178Ter)
19g.13025350C=CA2323688909NFIXc.354C= (p.Cys118=)
c.175C=
c.357C= (p.Cys119=)
c.381C= (p.Cys127=)
c.366C= (p.Cys122=)
c.216C= (p.Cys72=)
c.333C= (p.Cys111=)
c.*188C= (n.*188C=)
c.405C= (p.Cys135=)
c.534C= (p.Cys178=)
19g.13025350C>GCA404314578NFIXc.354C>G (p.Cys118Trp)
c.175C>G
c.357C>G (p.Cys119Trp)
c.381C>G (p.Cys127Trp)
c.366C>G (p.Cys122Trp)
c.216C>G (p.Cys72Trp)
c.333C>G (p.Cys111Trp)
c.*188C>G (n.*188C>G)
c.405C>G (p.Cys135Trp)
c.534C>G (p.Cys178Trp)
19g.13025350C>TCA505780757NFIXc.354C>T (p.Cys118=)
c.175C>T
c.357C>T (p.Cys119=)
c.381C>T (p.Cys127=)
c.366C>T (p.Cys122=)
c.216C>T (p.Cys72=)
c.333C>T (p.Cys111=)
c.*188C>T (n.*188C>T)
c.405C>T (p.Cys135=)
c.534C>T (p.Cys178=)
 ClinVar dbSNP gnomAD v4
19g.13025351delCA658799166NFIXc.355del (p.Leu119CysfsTer15)
c.176del
c.358del (p.Leu120CysfsTer15)
c.382del (p.Leu128CysfsTer15)
c.367del (p.Leu123CysfsTer15)
c.217del (p.Leu73CysfsTer12)
c.334del (p.Leu112CysfsTer15)
c.*189del (n.*189del)
c.217del (p.Leu73CysfsTer15)
c.406del (p.Leu136CysfsTer15)
c.535del (p.Leu179CysfsTer15)
 ClinVar dbSNP
19g.13025351C>ACA404314579NFIXc.355C>A (p.Leu119Met)
c.176C>A
c.358C>A (p.Leu120Met)
c.382C>A (p.Leu128Met)
c.367C>A (p.Leu123Met)
c.217C>A (p.Leu73Met)
c.334C>A (p.Leu112Met)
c.*189C>A (n.*189C>A)
c.406C>A (p.Leu136Met)
c.535C>A (p.Leu179Met)
19g.13025351C>GCA404314580NFIXc.355C>G (p.Leu119Val)
c.176C>G
c.358C>G (p.Leu120Val)
c.382C>G (p.Leu128Val)
c.367C>G (p.Leu123Val)
c.217C>G (p.Leu73Val)
c.334C>G (p.Leu112Val)
c.*189C>G (n.*189C>G)
c.406C>G (p.Leu136Val)
c.535C>G (p.Leu179Val)
19g.13025351C>TCA505780758NFIXc.355C>T (p.Leu119=)
c.176C>T
c.358C>T (p.Leu120=)
c.382C>T (p.Leu128=)
c.367C>T (p.Leu123=)
c.217C>T (p.Leu73=)
c.334C>T (p.Leu112=)
c.*189C>T (n.*189C>T)
c.406C>T (p.Leu136=)
c.535C>T (p.Leu179=)
19g.13025352T>ACA404314581NFIXc.356T>A (p.Leu119Gln)
c.177T>A
c.359T>A (p.Leu120Gln)
c.383T>A (p.Leu128Gln)
c.368T>A (p.Leu123Gln)
c.218T>A (p.Leu73Gln)
c.335T>A (p.Leu112Gln)
c.*190T>A (n.*190T>A)
c.407T>A (p.Leu136Gln)
c.536T>A (p.Leu179Gln)
19g.13025352T>CCA404314582NFIXc.356T>C (p.Leu119Pro)
c.177T>C
c.359T>C (p.Leu120Pro)
c.383T>C (p.Leu128Pro)
c.368T>C (p.Leu123Pro)
c.218T>C (p.Leu73Pro)
c.335T>C (p.Leu112Pro)
c.*190T>C (n.*190T>C)
c.407T>C (p.Leu136Pro)
c.536T>C (p.Leu179Pro)
19g.13025352T>GCA404314584NFIXc.356T>G (p.Leu119Arg)
c.177T>G
c.359T>G (p.Leu120Arg)
c.383T>G (p.Leu128Arg)
c.368T>G (p.Leu123Arg)
c.218T>G (p.Leu73Arg)
c.335T>G (p.Leu112Arg)
c.*190T>G (n.*190T>G)
c.407T>G (p.Leu136Arg)
c.536T>G (p.Leu179Arg)
 ClinVar
19g.13025353G>ACA9236976NFIXc.357G>A (p.Leu119=)
c.178G>A
c.360G>A (p.Leu120=)
c.384G>A (p.Leu128=)
c.369G>A (p.Leu123=)
c.219G>A (p.Leu73=)
c.336G>A (p.Leu112=)
c.*191G>A (n.*191G>A)
c.408G>A (p.Leu136=)
c.537G>A (p.Leu179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025353G>CCA505780759NFIXc.357G>C (p.Leu119=)
c.178G>C
c.360G>C (p.Leu120=)
c.384G>C (p.Leu128=)
c.369G>C (p.Leu123=)
c.219G>C (p.Leu73=)
c.336G>C (p.Leu112=)
c.*191G>C (n.*191G>C)
c.408G>C (p.Leu136=)
c.537G>C (p.Leu179=)
19g.13025353G=CA2323688910NFIXc.357G= (p.Leu119=)
c.178G=
c.360G= (p.Leu120=)
c.384G= (p.Leu128=)
c.369G= (p.Leu123=)
c.219G= (p.Leu73=)
c.336G= (p.Leu112=)
c.*191G= (n.*191G=)
c.408G= (p.Leu136=)
c.537G= (p.Leu179=)
19g.13025353G>TCA505780760NFIXc.357G>T (p.Leu119=)
c.178G>T
c.360G>T (p.Leu120=)
c.384G>T (p.Leu128=)
c.369G>T (p.Leu123=)
c.219G>T (p.Leu73=)
c.336G>T (p.Leu112=)
c.*191G>T (n.*191G>T)
c.408G>T (p.Leu136=)
c.537G>T (p.Leu179=)
19g.13025354C>ACA404314587NFIXc.358C>A (p.Arg120Ser)
c.179C>A
c.361C>A (p.Arg121Ser)
c.385C>A (p.Arg129Ser)
c.370C>A (p.Arg124Ser)
c.220C>A (p.Arg74Ser)
c.337C>A (p.Arg113Ser)
c.*192C>A (n.*192C>A)
c.409C>A (p.Arg137Ser)
c.538C>A (p.Arg180Ser)
19g.13025354C=CA2323688911NFIXc.358C= (p.Arg120=)
c.179C=
c.361C= (p.Arg121=)
c.385C= (p.Arg129=)
c.370C= (p.Arg124=)
c.220C= (p.Arg74=)
c.337C= (p.Arg113=)
c.*192C= (n.*192C=)
c.409C= (p.Arg137=)
c.538C= (p.Arg180=)
19g.13025354C>GCA404314590NFIXc.358C>G (p.Arg120Gly)
c.179C>G
c.361C>G (p.Arg121Gly)
c.385C>G (p.Arg129Gly)
c.370C>G (p.Arg124Gly)
c.220C>G (p.Arg74Gly)
c.337C>G (p.Arg113Gly)
c.*192C>G (n.*192C>G)
c.409C>G (p.Arg137Gly)
c.538C>G (p.Arg180Gly)
19g.13025354C>TCA204763NFIXc.358C>T (p.Arg120Cys)
c.179C>T
c.361C>T (p.Arg121Cys)
c.385C>T (p.Arg129Cys)
c.370C>T (p.Arg124Cys)
c.220C>T (p.Arg74Cys)
c.337C>T (p.Arg113Cys)
c.*192C>T (n.*192C>T)
c.409C>T (p.Arg137Cys)
c.538C>T (p.Arg180Cys)
 ClinVar dbSNP
19g.13025355G>ACA404314592NFIXc.359G>A (p.Arg120His)
c.180G>A
c.362G>A (p.Arg121His)
c.386G>A (p.Arg129His)
c.371G>A (p.Arg124His)
c.221G>A (p.Arg74His)
c.338G>A (p.Arg113His)
c.*193G>A (n.*193G>A)
c.410G>A (p.Arg137His)
c.539G>A (p.Arg180His)
19g.13025355G>CCA130007NFIXc.359G>C (p.Arg120Pro)
c.180G>C
c.362G>C (p.Arg121Pro)
c.386G>C (p.Arg129Pro)
c.371G>C (p.Arg124Pro)
c.221G>C (p.Arg74Pro)
c.338G>C (p.Arg113Pro)
c.*193G>C (n.*193G>C)
c.410G>C (p.Arg137Pro)
c.539G>C (p.Arg180Pro)
 ClinVar dbSNP
19g.13025355G=CA2323688912NFIXc.359G= (p.Arg120=)
c.180G=
c.362G= (p.Arg121=)
c.386G= (p.Arg129=)
c.371G= (p.Arg124=)
c.221G= (p.Arg74=)
c.338G= (p.Arg113=)
c.*193G= (n.*193G=)
c.410G= (p.Arg137=)
c.539G= (p.Arg180=)
19g.13025355G>TCA404314593NFIXc.359G>T (p.Arg120Leu)
c.180G>T
c.362G>T (p.Arg121Leu)
c.386G>T (p.Arg129Leu)
c.371G>T (p.Arg124Leu)
c.221G>T (p.Arg74Leu)
c.338G>T (p.Arg113Leu)
c.*193G>T (n.*193G>T)
c.410G>T (p.Arg137Leu)
c.539G>T (p.Arg180Leu)
19g.13025356C>ACA505780761NFIXc.360C>A (p.Arg120=)
c.181C>A
c.363C>A (p.Arg121=)
c.387C>A (p.Arg129=)
c.372C>A (p.Arg124=)
c.222C>A (p.Arg74=)
c.339C>A (p.Arg113=)
c.*194C>A (n.*194C>A)
c.411C>A (p.Arg137=)
c.540C>A (p.Arg180=)
19g.13025356C=CA2323688913NFIXc.360C= (p.Arg120=)
c.181C=
c.363C= (p.Arg121=)
c.387C= (p.Arg129=)
c.372C= (p.Arg124=)
c.222C= (p.Arg74=)
c.339C= (p.Arg113=)
c.*194C= (n.*194C=)
c.411C= (p.Arg137=)
c.540C= (p.Arg180=)
19g.13025356C>GCA505780762NFIXc.360C>G (p.Arg120=)
c.181C>G
c.363C>G (p.Arg121=)
c.387C>G (p.Arg129=)
c.372C>G (p.Arg124=)
c.222C>G (p.Arg74=)
c.339C>G (p.Arg113=)
c.*194C>G (n.*194C>G)
c.411C>G (p.Arg137=)
c.540C>G (p.Arg180=)
19g.13025356C>TCA505780763NFIXc.360C>T (p.Arg120=)
c.181C>T
c.363C>T (p.Arg121=)
c.387C>T (p.Arg129=)
c.372C>T (p.Arg124=)
c.222C>T (p.Arg74=)
c.339C>T (p.Arg113=)
c.*194C>T (n.*194C>T)
c.411C>T (p.Arg137=)
c.540C>T (p.Arg180=)
 dbSNP
19g.13025357C>ACA404314606NFIXc.361C>A (p.Gln121Lys)
c.182C>A
c.364C>A (p.Gln122Lys)
c.388C>A (p.Gln130Lys)
c.373C>A (p.Gln125Lys)
c.223C>A (p.Gln75Lys)
c.340C>A (p.Gln114Lys)
c.*195C>A (n.*195C>A)
c.412C>A (p.Gln138Lys)
c.541C>A (p.Gln181Lys)
19g.13025357C>GCA404314607NFIXc.361C>G (p.Gln121Glu)
c.182C>G
c.364C>G (p.Gln122Glu)
c.388C>G (p.Gln130Glu)
c.373C>G (p.Gln125Glu)
c.223C>G (p.Gln75Glu)
c.340C>G (p.Gln114Glu)
c.*195C>G (n.*195C>G)
c.412C>G (p.Gln138Glu)
c.541C>G (p.Gln181Glu)
19g.13025357C>TCA404314598NFIXc.361C>T (p.Gln121Ter)
c.182C>T
c.364C>T (p.Gln122Ter)
c.388C>T (p.Gln130Ter)
c.373C>T (p.Gln125Ter)
c.223C>T (p.Gln75Ter)
c.340C>T (p.Gln114Ter)
c.*195C>T (n.*195C>T)
c.412C>T (p.Gln138Ter)
c.541C>T (p.Gln181Ter)
19g.13025358A>CCA404314608NFIXc.362A>C (p.Gln121Pro)
c.183A>C
c.365A>C (p.Gln122Pro)
c.389A>C (p.Gln130Pro)
c.374A>C (p.Gln125Pro)
c.224A>C (p.Gln75Pro)
c.341A>C (p.Gln114Pro)
c.*196A>C (n.*196A>C)
c.413A>C (p.Gln138Pro)
c.542A>C (p.Gln181Pro)
19g.13025358A>GCA404314609NFIXc.362A>G (p.Gln121Arg)
c.183A>G
c.365A>G (p.Gln122Arg)
c.389A>G (p.Gln130Arg)
c.374A>G (p.Gln125Arg)
c.224A>G (p.Gln75Arg)
c.341A>G (p.Gln114Arg)
c.*196A>G (n.*196A>G)
c.413A>G (p.Gln138Arg)
c.542A>G (p.Gln181Arg)
19g.13025358A>TCA404314611NFIXc.362A>T (p.Gln121Leu)
c.183A>T
c.365A>T (p.Gln122Leu)
c.389A>T (p.Gln130Leu)
c.374A>T (p.Gln125Leu)
c.224A>T (p.Gln75Leu)
c.341A>T (p.Gln114Leu)
c.*196A>T (n.*196A>T)
c.413A>T (p.Gln138Leu)
c.542A>T (p.Gln181Leu)
19g.13025359G>ACA505780764NFIXc.363G>A (p.Gln121=)
c.184G>A
c.366G>A (p.Gln122=)
c.390G>A (p.Gln130=)
c.375G>A (p.Gln125=)
c.225G>A (p.Gln75=)
c.342G>A (p.Gln114=)
c.*197G>A (n.*197G>A)
c.414G>A (p.Gln138=)
c.543G>A (p.Gln181=)
19g.13025359G>CCA404314612NFIXc.363G>C (p.Gln121His)
c.184G>C
c.366G>C (p.Gln122His)
c.390G>C (p.Gln130His)
c.375G>C (p.Gln125His)
c.225G>C (p.Gln75His)
c.342G>C (p.Gln114His)
c.*197G>C (n.*197G>C)
c.414G>C (p.Gln138His)
c.543G>C (p.Gln181His)
19g.13025359G>TCA404314613NFIXc.363G>T (p.Gln121His)
c.184G>T
c.366G>T (p.Gln122His)
c.390G>T (p.Gln130His)
c.375G>T (p.Gln125His)
c.225G>T (p.Gln75His)
c.342G>T (p.Gln114His)
c.*197G>T (n.*197G>T)
c.414G>T (p.Gln138His)
c.543G>T (p.Gln181His)
19g.13025360G>ACA404314616NFIXc.364G>A (p.Ala122Thr)
c.185G>A
c.367G>A (p.Ala123Thr)
c.391G>A (p.Ala131Thr)
c.376G>A (p.Ala126Thr)
c.226G>A (p.Ala76Thr)
c.343G>A (p.Ala115Thr)
c.*198G>A (n.*198G>A)
c.415G>A (p.Ala139Thr)
c.544G>A (p.Ala182Thr)
19g.13025360G>CCA404314617NFIXc.364G>C (p.Ala122Pro)
c.185G>C
c.367G>C (p.Ala123Pro)
c.391G>C (p.Ala131Pro)
c.376G>C (p.Ala126Pro)
c.226G>C (p.Ala76Pro)
c.343G>C (p.Ala115Pro)
c.*198G>C (n.*198G>C)
c.415G>C (p.Ala139Pro)
c.544G>C (p.Ala182Pro)
19g.13025360G>TCA404314618NFIXc.364G>T (p.Ala122Ser)
c.185G>T
c.367G>T (p.Ala123Ser)
c.391G>T (p.Ala131Ser)
c.376G>T (p.Ala126Ser)
c.226G>T (p.Ala76Ser)
c.343G>T (p.Ala115Ser)
c.*198G>T (n.*198G>T)
c.415G>T (p.Ala139Ser)
c.544G>T (p.Ala182Ser)
19g.13025361C>ACA404314619NFIXc.365C>A (p.Ala122Asp)
c.186C>A
c.368C>A (p.Ala123Asp)
c.392C>A (p.Ala131Asp)
c.377C>A (p.Ala126Asp)
c.227C>A (p.Ala76Asp)
c.344C>A (p.Ala115Asp)
c.*199C>A (n.*199C>A)
c.416C>A (p.Ala139Asp)
c.545C>A (p.Ala182Asp)
19g.13025361C>GCA404314620NFIXc.365C>G (p.Ala122Gly)
c.186C>G
c.368C>G (p.Ala123Gly)
c.392C>G (p.Ala131Gly)
c.377C>G (p.Ala126Gly)
c.227C>G (p.Ala76Gly)
c.344C>G (p.Ala115Gly)
c.*199C>G (n.*199C>G)
c.416C>G (p.Ala139Gly)
c.545C>G (p.Ala182Gly)
19g.13025361C>TCA404314621NFIXc.365C>T (p.Ala122Val)
c.186C>T
c.368C>T (p.Ala123Val)
c.392C>T (p.Ala131Val)
c.377C>T (p.Ala126Val)
c.227C>T (p.Ala76Val)
c.344C>T (p.Ala115Val)
c.*199C>T (n.*199C>T)
c.416C>T (p.Ala139Val)
c.545C>T (p.Ala182Val)
19g.13025362T>ACA505780765NFIXc.366T>A (p.Ala122=)
c.187T>A
c.369T>A (p.Ala123=)
c.393T>A (p.Ala131=)
c.378T>A (p.Ala126=)
c.228T>A (p.Ala76=)
c.345T>A (p.Ala115=)
c.*200T>A (n.*200T>A)
c.417T>A (p.Ala139=)
c.546T>A (p.Ala182=)
19g.13025362T>CCA505780766NFIXc.366T>C (p.Ala122=)
c.187T>C
c.369T>C (p.Ala123=)
c.393T>C (p.Ala131=)
c.378T>C (p.Ala126=)
c.228T>C (p.Ala76=)
c.345T>C (p.Ala115=)
c.*200T>C (n.*200T>C)
c.417T>C (p.Ala139=)
c.546T>C (p.Ala182=)
19g.13025362T>GCA505780767NFIXc.366T>G (p.Ala122=)
c.187T>G
c.369T>G (p.Ala123=)
c.393T>G (p.Ala131=)
c.378T>G (p.Ala126=)
c.228T>G (p.Ala76=)
c.345T>G (p.Ala115=)
c.*200T>G (n.*200T>G)
c.417T>G (p.Ala139=)
c.546T>G (p.Ala182=)
19g.13025363G>ACA404314622NFIXc.367G>A (p.Asp123Asn)
c.188G>A
c.370G>A (p.Asp124Asn)
c.394G>A (p.Asp132Asn)
c.379G>A (p.Asp127Asn)
c.229G>A (p.Asp77Asn)
c.346G>A (p.Asp116Asn)
c.*201G>A (n.*201G>A)
c.418G>A (p.Asp140Asn)
c.547G>A (p.Asp183Asn)
 ClinVar dbSNP
19g.13025363G>CCA404314623NFIXc.367G>C (p.Asp123His)
c.188G>C
c.370G>C (p.Asp124His)
c.394G>C (p.Asp132His)
c.379G>C (p.Asp127His)
c.229G>C (p.Asp77His)
c.346G>C (p.Asp116His)
c.*201G>C (n.*201G>C)
c.418G>C (p.Asp140His)
c.547G>C (p.Asp183His)
19g.13025363G=CA2323688914NFIXc.367G= (p.Asp123=)
c.188G=
c.370G= (p.Asp124=)
c.394G= (p.Asp132=)
c.379G= (p.Asp127=)
c.229G= (p.Asp77=)
c.346G= (p.Asp116=)
c.*201G= (n.*201G=)
c.418G= (p.Asp140=)
c.547G= (p.Asp183=)
19g.13025363G>TCA404314624NFIXc.367G>T (p.Asp123Tyr)
c.188G>T
c.370G>T (p.Asp124Tyr)
c.394G>T (p.Asp132Tyr)
c.379G>T (p.Asp127Tyr)
c.229G>T (p.Asp77Tyr)
c.346G>T (p.Asp116Tyr)
c.*201G>T (n.*201G>T)
c.418G>T (p.Asp140Tyr)
c.547G>T (p.Asp183Tyr)
19g.13025363_13025365delinsACA2695228220NFIXc.367_369delinsA (p.Asp123LysfsTer14)
c.188_190delinsA
c.370_372delinsA (p.Asp124LysfsTer14)
c.394_396delinsA (p.Asp132LysfsTer14)
c.379_381delinsA (p.Asp127LysfsTer14)
c.229_231delinsA (p.Asp77LysfsTer?)
c.346_348delinsA (p.Asp116LysfsTer14)
c.*201_*203delinsA (n.*201_*203delinsA)
c.229_231delinsA (p.Asp77LysfsTer14)
c.418_420delinsA (p.Asp140LysfsTer14)
c.547_549delinsA (p.Asp183LysfsTer14)
19g.13025364A>CCA404314628NFIXc.368A>C (p.Asp123Ala)
c.189A>C
c.371A>C (p.Asp124Ala)
c.395A>C (p.Asp132Ala)
c.380A>C (p.Asp127Ala)
c.230A>C (p.Asp77Ala)
c.347A>C (p.Asp116Ala)
c.*202A>C (n.*202A>C)
c.419A>C (p.Asp140Ala)
c.548A>C (p.Asp183Ala)
19g.13025364A>GCA404314627NFIXc.368A>G (p.Asp123Gly)
c.189A>G
c.371A>G (p.Asp124Gly)
c.395A>G (p.Asp132Gly)
c.380A>G (p.Asp127Gly)
c.230A>G (p.Asp77Gly)
c.347A>G (p.Asp116Gly)
c.*202A>G (n.*202A>G)
c.419A>G (p.Asp140Gly)
c.548A>G (p.Asp183Gly)
19g.13025364A>TCA404314625NFIXc.368A>T (p.Asp123Val)
c.189A>T
c.371A>T (p.Asp124Val)
c.395A>T (p.Asp132Val)
c.380A>T (p.Asp127Val)
c.230A>T (p.Asp77Val)
c.347A>T (p.Asp116Val)
c.*202A>T (n.*202A>T)
c.419A>T (p.Asp140Val)
c.548A>T (p.Asp183Val)
19g.13025365C>ACA404314631NFIXc.369C>A (p.Asp123Glu)
c.190C>A
c.372C>A (p.Asp124Glu)
c.396C>A (p.Asp132Glu)
c.381C>A (p.Asp127Glu)
c.231C>A (p.Asp77Glu)
c.348C>A (p.Asp116Glu)
c.*203C>A (n.*203C>A)
c.420C>A (p.Asp140Glu)
c.549C>A (p.Asp183Glu)
 gnomAD v4
19g.13025365C>GCA404314633NFIXc.369C>G (p.Asp123Glu)
c.190C>G
c.372C>G (p.Asp124Glu)
c.396C>G (p.Asp132Glu)
c.381C>G (p.Asp127Glu)
c.231C>G (p.Asp77Glu)
c.348C>G (p.Asp116Glu)
c.*203C>G (n.*203C>G)
c.420C>G (p.Asp140Glu)
c.549C>G (p.Asp183Glu)
19g.13025365C>TCA505780768NFIXc.369C>T (p.Asp123=)
c.190C>T
c.372C>T (p.Asp124=)
c.396C>T (p.Asp132=)
c.381C>T (p.Asp127=)
c.231C>T (p.Asp77=)
c.348C>T (p.Asp116=)
c.*203C>T (n.*203C>T)
c.420C>T (p.Asp140=)
c.549C>T (p.Asp183=)
 gnomAD v4

Number of alleles fetched