Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94603445A=CA1865225129FBP1c.1113T= (n.1113T=)
c.953T= (p.Ile318=)
c.758T= (p.Ile253=)
c.707T= (p.Ile236=)
9g.94603445A>CCA374105718FBP1c.1113T>G (n.1113T>G)
c.953T>G (p.Ile318Ser)
c.758T>G (p.Ile253Ser)
c.707T>G (p.Ile236Ser)
9g.94603445A>GCA374105720FBP1c.1113T>C (n.1113T>C)
c.953T>C (p.Ile318Thr)
c.758T>C (p.Ile253Thr)
c.707T>C (p.Ile236Thr)
 dbSNP
9g.94603445A>TCA374105721FBP1c.1113T>A (n.1113T>A)
c.953T>A (p.Ile318Asn)
c.758T>A (p.Ile253Asn)
c.707T>A (p.Ile236Asn)
9g.94603446T>ACA374105723FBP1c.1112A>T (n.1112A>T)
c.952A>T (p.Ile318Phe)
c.757A>T (p.Ile253Phe)
c.706A>T (p.Ile236Phe)
9g.94603446T>CCA374105725FBP1c.1112A>G (n.1112A>G)
c.952A>G (p.Ile318Val)
c.757A>G (p.Ile253Val)
c.706A>G (p.Ile236Val)
9g.94603446T>GCA374105726FBP1c.1112A>C (n.1112A>C)
c.952A>C (p.Ile318Leu)
c.757A>C (p.Ile253Leu)
c.706A>C (p.Ile236Leu)
9g.94603447C>ACA466098331FBP1c.1111G>T (n.1111G>T)
c.951G>T (p.Val317=)
c.756G>T (p.Val252=)
c.705G>T (p.Val235=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.94603447C=CA1865225130FBP1c.1111G= (n.1111G=)
c.951G= (p.Val317=)
c.756G= (p.Val252=)
c.705G= (p.Val235=)
9g.94603447C>GCA466098332FBP1c.1111G>C (n.1111G>C)
c.951G>C (p.Val317=)
c.756G>C (p.Val252=)
c.705G>C (p.Val235=)
9g.94603447C>TCA466098335FBP1c.1111G>A (n.1111G>A)
c.951G>A (p.Val317=)
c.756G>A (p.Val252=)
c.705G>A (p.Val235=)
9g.94603448A>CCA374105731FBP1c.1110T>G (n.1110T>G)
c.950T>G (p.Val317Gly)
c.755T>G (p.Val252Gly)
c.704T>G (p.Val235Gly)
 gnomAD v4
9g.94603448A>GCA374105729FBP1c.1110T>C (n.1110T>C)
c.950T>C (p.Val317Ala)
c.755T>C (p.Val252Ala)
c.704T>C (p.Val235Ala)
9g.94603448A>TCA374105728FBP1c.1110T>A (n.1110T>A)
c.950T>A (p.Val317Glu)
c.755T>A (p.Val252Glu)
c.704T>A (p.Val235Glu)
9g.94603449C>ACA374105732FBP1c.1109G>T (n.1109G>T)
c.949G>T (p.Val317Leu)
c.754G>T (p.Val252Leu)
c.703G>T (p.Val235Leu)
 gnomAD v4
9g.94603449C>GCA374105736FBP1c.1109G>C (n.1109G>C)
c.949G>C (p.Val317Leu)
c.754G>C (p.Val252Leu)
c.703G>C (p.Val235Leu)
9g.94603449C>TCA374105734FBP1c.1109G>A (n.1109G>A)
c.949G>A (p.Val317Met)
c.754G>A (p.Val252Met)
c.703G>A (p.Val235Met)
9g.94603450C>ACA466098347FBP1c.1108G>T (n.1108G>T)
c.948G>T (p.Pro316=)
c.753G>T (p.Pro251=)
c.702G>T (p.Pro234=)
 dbSNP gnomAD v2
9g.94603450C=CA1865225131FBP1c.1108G= (n.1108G=)
c.948G= (p.Pro316=)
c.753G= (p.Pro251=)
c.702G= (p.Pro234=)
9g.94603450C>GCA466098349FBP1c.1108G>C (n.1108G>C)
c.948G>C (p.Pro316=)
c.753G>C (p.Pro251=)
c.702G>C (p.Pro234=)
9g.94603450C>TCA5136069FBP1c.1108G>A (n.1108G>A)
c.948G>A (p.Pro316=)
c.753G>A (p.Pro251=)
c.702G>A (p.Pro234=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603451G>ACA5136070FBP1c.1107C>T (n.1107C>T)
c.947C>T (p.Pro316Leu)
c.752C>T (p.Pro251Leu)
c.701C>T (p.Pro234Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603451G>CCA374105738FBP1c.1107C>G (n.1107C>G)
c.947C>G (p.Pro316Arg)
c.752C>G (p.Pro251Arg)
c.701C>G (p.Pro234Arg)
9g.94603451G=CA1865225132FBP1c.1107C= (n.1107C=)
c.947C= (p.Pro316=)
c.752C= (p.Pro251=)
c.701C= (p.Pro234=)
9g.94603451G>TCA374105739FBP1c.1107C>A (n.1107C>A)
c.947C>A (p.Pro316Gln)
c.752C>A (p.Pro251Gln)
c.701C>A (p.Pro234Gln)
9g.94603452G>ACA374105741FBP1c.1106C>T (n.1106C>T)
c.946C>T (p.Pro316Ser)
c.751C>T (p.Pro251Ser)
c.700C>T (p.Pro234Ser)
9g.94603452G>CCA374105742FBP1c.1106C>G (n.1106C>G)
c.946C>G (p.Pro316Ala)
c.751C>G (p.Pro251Ala)
c.700C>G (p.Pro234Ala)
 gnomAD v4
9g.94603452G=CA1865225133FBP1c.1106C= (n.1106C=)
c.946C= (p.Pro316=)
c.751C= (p.Pro251=)
c.700C= (p.Pro234=)
9g.94603452G>TCA374105744FBP1c.1106C>A (n.1106C>A)
c.946C>A (p.Pro316Thr)
c.751C>A (p.Pro251Thr)
c.700C>A (p.Pro234Thr)
 dbSNP
9g.94603453C>ACA466098363FBP1c.1105G>T (n.1105G>T)
c.945G>T (p.Ala315=)
c.750G>T (p.Ala250=)
c.699G>T (p.Ala233=)
9g.94603453C=CA1865225134FBP1c.1105G= (n.1105G=)
c.945G= (p.Ala315=)
c.750G= (p.Ala250=)
c.699G= (p.Ala233=)
9g.94603453C>GCA466098365FBP1c.1105G>C (n.1105G>C)
c.945G>C (p.Ala315=)
c.750G>C (p.Ala250=)
c.699G>C (p.Ala233=)
9g.94603453C>TCA5136071FBP1c.1105G>A (n.1105G>A)
c.945G>A (p.Ala315=)
c.750G>A (p.Ala250=)
c.699G>A (p.Ala233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603454G>ACA196550812FBP1c.1104C>T (n.1104C>T)
c.944C>T (p.Ala315Val)
c.749C>T (p.Ala250Val)
c.698C>T (p.Ala233Val)
 dbSNP gnomAD v2 gnomAD v4
9g.94603454G>CCA374105747FBP1c.1104C>G (n.1104C>G)
c.944C>G (p.Ala315Gly)
c.749C>G (p.Ala250Gly)
c.698C>G (p.Ala233Gly)
9g.94603454G=CA1865225135FBP1c.1104C= (n.1104C=)
c.944C= (p.Ala315=)
c.749C= (p.Ala250=)
c.698C= (p.Ala233=)
9g.94603454G>TCA374105748FBP1c.1104C>A (n.1104C>A)
c.944C>A (p.Ala315Glu)
c.749C>A (p.Ala250Glu)
c.698C>A (p.Ala233Glu)
9g.94603455C>ACA374105753FBP1c.1103G>T (n.1103G>T)
c.943G>T (p.Ala315Ser)
c.748G>T (p.Ala250Ser)
c.697G>T (p.Ala233Ser)
9g.94603455C>GCA374105752FBP1c.1103G>C (n.1103G>C)
c.943G>C (p.Ala315Pro)
c.748G>C (p.Ala250Pro)
c.697G>C (p.Ala233Pro)
9g.94603455C>TCA374105750FBP1c.1103G>A (n.1103G>A)
c.943G>A (p.Ala315Thr)
c.748G>A (p.Ala250Thr)
c.697G>A (p.Ala233Thr)
 COSMIC
9g.94603456C>ACA374105755FBP1c.1102G>T (n.1102G>T)
c.942G>T (p.Arg314Ser)
c.747G>T (p.Arg249Ser)
c.696G>T (p.Arg232Ser)
9g.94603456C=CA1865225136FBP1c.1102G= (n.1102G=)
c.942G= (p.Arg314=)
c.747G= (p.Arg249=)
c.696G= (p.Arg232=)
9g.94603456C>GCA374105756FBP1c.1102G>C (n.1102G>C)
c.942G>C (p.Arg314Ser)
c.747G>C (p.Arg249Ser)
c.696G>C (p.Arg232Ser)
9g.94603456C>TCA466098379FBP1c.1102G>A (n.1102G>A)
c.942G>A (p.Arg314=)
c.747G>A (p.Arg249=)
c.696G>A (p.Arg232=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94603457C>ACA374105758FBP1c.1101G>T (n.1101G>T)
c.941G>T (p.Arg314Met)
c.746G>T (p.Arg249Met)
c.695G>T (p.Arg232Met)
9g.94603457C>GCA374105760FBP1c.1101G>C (n.1101G>C)
c.941G>C (p.Arg314Thr)
c.746G>C (p.Arg249Thr)
c.695G>C (p.Arg232Thr)
9g.94603457C>TCA374105761FBP1c.1101G>A (n.1101G>A)
c.941G>A (p.Arg314Lys)
c.746G>A (p.Arg249Lys)
c.695G>A (p.Arg232Lys)
 gnomAD v4
9g.94603458T>ACA374105763FBP1c.1100A>T (n.1100A>T)
c.940A>T (p.Arg314Trp)
c.745A>T (p.Arg249Trp)
c.694A>T (p.Arg232Trp)
9g.94603458T>CCA374105765FBP1c.1100A>G (n.1100A>G)
c.940A>G (p.Arg314Gly)
c.745A>G (p.Arg249Gly)
c.694A>G (p.Arg232Gly)
9g.94603458T>GCA196550813FBP1c.1100A>C (n.1100A>C)
c.940A>C (p.Arg314=)
c.745A>C (p.Arg249=)
c.694A>C (p.Arg232=)
 dbSNP
9g.94603458T=CA1865225137FBP1c.1100A= (n.1100A=)
c.940A= (p.Arg314=)
c.745A= (p.Arg249=)
c.694A= (p.Arg232=)
9g.94603459C>ACA374105766FBP1c.1099G>T (n.1099G>T)
c.939G>T (p.Gln313His)
c.744G>T (p.Gln248His)
c.693G>T (p.Gln231His)
9g.94603459C>GCA374105768FBP1c.1099G>C (n.1099G>C)
c.939G>C (p.Gln313His)
c.744G>C (p.Gln248His)
c.693G>C (p.Gln231His)
9g.94603459C>TCA466098394FBP1c.1099G>A (n.1099G>A)
c.939G>A (p.Gln313=)
c.744G>A (p.Gln248=)
c.693G>A (p.Gln231=)
9g.94603460T>ACA374105769FBP1c.1098A>T (n.1098A>T)
c.938A>T (p.Gln313Leu)
c.743A>T (p.Gln248Leu)
c.692A>T (p.Gln231Leu)
9g.94603460T>CCA5136072FBP1c.1098A>G (n.1098A>G)
c.938A>G (p.Gln313Arg)
c.743A>G (p.Gln248Arg)
c.692A>G (p.Gln231Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603460T>GCA374105771FBP1c.1098A>C (n.1098A>C)
c.938A>C (p.Gln313Pro)
c.743A>C (p.Gln248Pro)
c.692A>C (p.Gln231Pro)
9g.94603460T=CA1865225138FBP1c.1098A= (n.1098A=)
c.938A= (p.Gln313=)
c.743A= (p.Gln248=)
c.692A= (p.Gln231=)
9g.94603461G>ACA374105776FBP1c.1097C>T (n.1097C>T)
c.937C>T (p.Gln313Ter)
c.742C>T (p.Gln248Ter)
c.691C>T (p.Gln231Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.94603461G>CCA374105775FBP1c.1097C>G (n.1097C>G)
c.937C>G (p.Gln313Glu)
c.742C>G (p.Gln248Glu)
c.691C>G (p.Gln231Glu)
9g.94603461G=CA1865225139FBP1c.1097C= (n.1097C=)
c.937C= (p.Gln313=)
c.742C= (p.Gln248=)
c.691C= (p.Gln231=)
9g.94603461G>TCA374105773FBP1c.1097C>A (n.1097C>A)
c.937C>A (p.Gln313Lys)
c.742C>A (p.Gln248Lys)
c.691C>A (p.Gln231Lys)
9g.94603462G>ACA466098405FBP1c.1096C>T (n.1096C>T)
c.936C>T (p.His312=)
c.741C>T (p.His247=)
c.690C>T (p.His230=)
9g.94603462G>CCA374105779FBP1c.1096C>G (n.1096C>G)
c.936C>G (p.His312Gln)
c.741C>G (p.His247Gln)
c.690C>G (p.His230Gln)
9g.94603462G>TCA374105778FBP1c.1096C>A (n.1096C>A)
c.936C>A (p.His312Gln)
c.741C>A (p.His247Gln)
c.690C>A (p.His230Gln)
9g.94603463T>ACA374105781FBP1c.1095A>T (n.1095A>T)
c.935A>T (p.His312Leu)
c.740A>T (p.His247Leu)
c.689A>T (p.His230Leu)
9g.94603463T>CCA374105782FBP1c.1095A>G (n.1095A>G)
c.935A>G (p.His312Arg)
c.740A>G (p.His247Arg)
c.689A>G (p.His230Arg)
9g.94603463T>GCA374105783FBP1c.1095A>C (n.1095A>C)
c.935A>C (p.His312Pro)
c.740A>C (p.His247Pro)
c.689A>C (p.His230Pro)
9g.94603464G>ACA374105785FBP1c.1094C>T (n.1094C>T)
c.934C>T (p.His312Tyr)
c.739C>T (p.His247Tyr)
c.688C>T (p.His230Tyr)
9g.94603464G>CCA374105787FBP1c.1094C>G (n.1094C>G)
c.934C>G (p.His312Asp)
c.739C>G (p.His247Asp)
c.688C>G (p.His230Asp)
9g.94603464G>TCA374105789FBP1c.1094C>A (n.1094C>A)
c.934C>A (p.His312Asn)
c.739C>A (p.His247Asn)
c.688C>A (p.His230Asn)
9g.94603465A>CCA374105790FBP1c.1093T>G (n.1093T>G)
c.933T>G (p.Ile311Met)
c.738T>G (p.Ile246Met)
c.687T>G (p.Ile229Met)
9g.94603465A>GCA466098419FBP1c.1093T>C (n.1093T>C)
c.933T>C (p.Ile311=)
c.738T>C (p.Ile246=)
c.687T>C (p.Ile229=)
9g.94603465A>TCA466098416FBP1c.1093T>A (n.1093T>A)
c.933T>A (p.Ile311=)
c.738T>A (p.Ile246=)
c.687T>A (p.Ile229=)
9g.94603466A>CCA374105791FBP1c.1092T>G (n.1092T>G)
c.932T>G (p.Ile311Ser)
c.737T>G (p.Ile246Ser)
c.686T>G (p.Ile229Ser)
9g.94603466A>GCA374105792FBP1c.1092T>C (n.1092T>C)
c.932T>C (p.Ile311Thr)
c.737T>C (p.Ile246Thr)
c.686T>C (p.Ile229Thr)
9g.94603466A>TCA374105793FBP1c.1092T>A (n.1092T>A)
c.932T>A (p.Ile311Asn)
c.737T>A (p.Ile246Asn)
c.686T>A (p.Ile229Asn)
9g.94603467T>ACA374105794FBP1c.1091A>T (n.1091A>T)
c.931A>T (p.Ile311Phe)
c.736A>T (p.Ile246Phe)
c.685A>T (p.Ile229Phe)
9g.94603467T>CCA374105796FBP1c.1091A>G (n.1091A>G)
c.931A>G (p.Ile311Val)
c.736A>G (p.Ile246Val)
c.685A>G (p.Ile229Val)
 COSMIC
9g.94603467T>GCA374105797FBP1c.1091A>C (n.1091A>C)
c.931A>C (p.Ile311Leu)
c.736A>C (p.Ile246Leu)
c.685A>C (p.Ile229Leu)
9g.94603468G>ACA5136073FBP1c.1090C>T (n.1090C>T)
c.930C>T (p.Asp310=)
c.735C>T (p.Asp245=)
c.684C>T (p.Asp228=)
 dbSNP ExAC gnomAD v4
9g.94603468G>CCA374105801FBP1c.1090C>G (n.1090C>G)
c.930C>G (p.Asp310Glu)
c.735C>G (p.Asp245Glu)
c.684C>G (p.Asp228Glu)
9g.94603468G=CA1865225140FBP1c.1090C= (n.1090C=)
c.930C= (p.Asp310=)
c.735C= (p.Asp245=)
c.684C= (p.Asp228=)
9g.94603468G>TCA374105799FBP1c.1090C>A (n.1090C>A)
c.930C>A (p.Asp310Glu)
c.735C>A (p.Asp245Glu)
c.684C>A (p.Asp228Glu)
 dbSNP
9g.94603469T>ACA374105803FBP1c.1089A>T (n.1089A>T)
c.929A>T (p.Asp310Val)
c.734A>T (p.Asp245Val)
c.683A>T (p.Asp228Val)
9g.94603469T>CCA374105804FBP1c.1089A>G (n.1089A>G)
c.929A>G (p.Asp310Gly)
c.734A>G (p.Asp245Gly)
c.683A>G (p.Asp228Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.94603469T>GCA374105806FBP1c.1089A>C (n.1089A>C)
c.929A>C (p.Asp310Ala)
c.734A>C (p.Asp245Ala)
c.683A>C (p.Asp228Ala)
9g.94603469T=CA1865225141FBP1c.1089A= (n.1089A=)
c.929A= (p.Asp310=)
c.734A= (p.Asp245=)
c.683A= (p.Asp228=)
9g.94603470C>ACA374105808FBP1c.1088G>T (n.1088G>T)
c.928G>T (p.Asp310Tyr)
c.733G>T (p.Asp245Tyr)
c.682G>T (p.Asp228Tyr)
9g.94603470C>GCA374105809FBP1c.1088G>C (n.1088G>C)
c.928G>C (p.Asp310His)
c.733G>C (p.Asp245His)
c.682G>C (p.Asp228His)
 dbSNP gnomAD v3 gnomAD v4
9g.94603470C>TCA374105811FBP1c.1088G>A (n.1088G>A)
c.928G>A (p.Asp310Asn)
c.733G>A (p.Asp245Asn)
c.682G>A (p.Asp228Asn)
9g.94603471T>ACA466098444FBP1c.1087A>T (n.1087A>T)
c.927A>T (p.Thr309=)
c.732A>T (p.Thr244=)
c.681A>T (p.Thr227=)
9g.94603471T>CCA466098446FBP1c.1087A>G (n.1087A>G)
c.927A>G (p.Thr309=)
c.732A>G (p.Thr244=)
c.681A>G (p.Thr227=)
9g.94603471T>GCA466098449FBP1c.1087A>C (n.1087A>C)
c.927A>C (p.Thr309=)
c.732A>C (p.Thr244=)
c.681A>C (p.Thr227=)
9g.94603472G>ACA374105813FBP1c.1086C>T (n.1086C>T)
c.926C>T (p.Thr309Ile)
c.731C>T (p.Thr244Ile)
c.680C>T (p.Thr227Ile)
9g.94603472G>CCA374105815FBP1c.1086C>G (n.1086C>G)
c.926C>G (p.Thr309Arg)
c.731C>G (p.Thr244Arg)
c.680C>G (p.Thr227Arg)
9g.94603472G>TCA374105816FBP1c.1086C>A (n.1086C>A)
c.926C>A (p.Thr309Lys)
c.731C>A (p.Thr244Lys)
c.680C>A (p.Thr227Lys)
 ClinVar gnomAD v4
9g.94603473T>ACA374105818FBP1c.1085A>T (n.1085A>T)
c.925A>T (p.Thr309Ser)
c.730A>T (p.Thr244Ser)
c.679A>T (p.Thr227Ser)
9g.94603473T>CCA374105819FBP1c.1085A>G (n.1085A>G)
c.925A>G (p.Thr309Ala)
c.730A>G (p.Thr244Ala)
c.679A>G (p.Thr227Ala)
9g.94603473T>GCA374105820FBP1c.1085A>C (n.1085A>C)
c.925A>C (p.Thr309Pro)
c.730A>C (p.Thr244Pro)
c.679A>C (p.Thr227Pro)
9g.94603474G>ACA466098460FBP1c.1084C>T (n.1084C>T)
c.924C>T (p.Pro308=)
c.729C>T (p.Pro243=)
c.678C>T (p.Pro226=)
9g.94603474G>CCA466098462FBP1c.1084C>G (n.1084C>G)
c.924C>G (p.Pro308=)
c.729C>G (p.Pro243=)
c.678C>G (p.Pro226=)
9g.94603474G>TCA466098465FBP1c.1084C>A (n.1084C>A)
c.924C>A (p.Pro308=)
c.729C>A (p.Pro243=)
c.678C>A (p.Pro226=)
9g.94603475G>ACA374105825FBP1c.1083C>T (n.1083C>T)
c.923C>T (p.Pro308Leu)
c.728C>T (p.Pro243Leu)
c.677C>T (p.Pro226Leu)
9g.94603475G>CCA374105823FBP1c.1083C>G (n.1083C>G)
c.923C>G (p.Pro308Arg)
c.728C>G (p.Pro243Arg)
c.677C>G (p.Pro226Arg)
9g.94603475G>TCA374105822FBP1c.1083C>A (n.1083C>A)
c.923C>A (p.Pro308His)
c.728C>A (p.Pro243His)
c.677C>A (p.Pro226His)
9g.94603476G>ACA374105826FBP1c.1082C>T (n.1082C>T)
c.922C>T (p.Pro308Ser)
c.727C>T (p.Pro243Ser)
c.676C>T (p.Pro226Ser)
 COSMIC
9g.94603476G>CCA374105828FBP1c.1082C>G (n.1082C>G)
c.922C>G (p.Pro308Ala)
c.727C>G (p.Pro243Ala)
c.676C>G (p.Pro226Ala)
 gnomAD v4
9g.94603476G>TCA374105827FBP1c.1082C>A (n.1082C>A)
c.922C>A (p.Pro308Thr)
c.727C>A (p.Pro243Thr)
c.676C>A (p.Pro226Thr)
9g.94603477A>CCA374105830FBP1c.1081T>G (n.1081T>G)
c.921T>G (p.Ile307Met)
c.726T>G (p.Ile242Met)
c.675T>G (p.Ile225Met)
9g.94603477A>GCA466098476FBP1c.1081T>C (n.1081T>C)
c.921T>C (p.Ile307=)
c.726T>C (p.Ile242=)
c.675T>C (p.Ile225=)
9g.94603477A>TCA466098479FBP1c.1081T>A (n.1081T>A)
c.921T>A (p.Ile307=)
c.726T>A (p.Ile242=)
c.675T>A (p.Ile225=)
9g.94603478A>CCA374105832FBP1c.1080T>G (n.1080T>G)
c.920T>G (p.Ile307Ser)
c.725T>G (p.Ile242Ser)
c.674T>G (p.Ile225Ser)
9g.94603478A>GCA374105833FBP1c.1080T>C (n.1080T>C)
c.920T>C (p.Ile307Thr)
c.725T>C (p.Ile242Thr)
c.674T>C (p.Ile225Thr)
9g.94603478A>TCA374105835FBP1c.1080T>A (n.1080T>A)
c.920T>A (p.Ile307Asn)
c.725T>A (p.Ile242Asn)
c.674T>A (p.Ile225Asn)
9g.94603479T>ACA374105836FBP1c.1079A>T (n.1079A>T)
c.919A>T (p.Ile307Phe)
c.724A>T (p.Ile242Phe)
c.673A>T (p.Ile225Phe)
9g.94603479T>CCA374105838FBP1c.1079A>G (n.1079A>G)
c.919A>G (p.Ile307Val)
c.724A>G (p.Ile242Val)
c.673A>G (p.Ile225Val)
9g.94603479T>GCA374105840FBP1c.1079A>C (n.1079A>C)
c.919A>C (p.Ile307Leu)
c.724A>C (p.Ile242Leu)
c.673A>C (p.Ile225Leu)
9g.94603480G>ACA466098491FBP1c.1078C>T (n.1078C>T)
c.918C>T (p.Val306=)
c.723C>T (p.Val241=)
c.672C>T (p.Val224=)
9g.94603480G>CCA466098493FBP1c.1078C>G (n.1078C>G)
c.918C>G (p.Val306=)
c.723C>G (p.Val241=)
c.672C>G (p.Val224=)
9g.94603480G>TCA466098496FBP1c.1078C>A (n.1078C>A)
c.918C>A (p.Val306=)
c.723C>A (p.Val241=)
c.672C>A (p.Val224=)
9g.94603481A>CCA374105841FBP1c.1077T>G (n.1077T>G)
c.917T>G (p.Val306Gly)
c.722T>G (p.Val241Gly)
c.671T>G (p.Val224Gly)
9g.94603481A>GCA374105842FBP1c.1077T>C (n.1077T>C)
c.917T>C (p.Val306Ala)
c.722T>C (p.Val241Ala)
c.671T>C (p.Val224Ala)
9g.94603481A>TCA374105844FBP1c.1077T>A (n.1077T>A)
c.917T>A (p.Val306Asp)
c.722T>A (p.Val241Asp)
c.671T>A (p.Val224Asp)
9g.94603482C>ACA196550822FBP1c.1076G>T (n.1076G>T)
c.916G>T (p.Val306Phe)
c.721G>T (p.Val241Phe)
c.670G>T (p.Val224Phe)
 dbSNP
9g.94603482C=CA1865225142FBP1c.1076G= (n.1076G=)
c.916G= (p.Val306=)
c.721G= (p.Val241=)
c.670G= (p.Val224=)
9g.94603482C>GCA374105846FBP1c.1076G>C (n.1076G>C)
c.916G>C (p.Val306Leu)
c.721G>C (p.Val241Leu)
c.670G>C (p.Val224Leu)
9g.94603482C>TCA196550817FBP1c.1076G>A (n.1076G>A)
c.916G>A (p.Val306Ile)
c.721G>A (p.Val241Ile)
c.670G>A (p.Val224Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94603483G>ACA5136074FBP1c.1075C>T (n.1075C>T)
c.915C>T (p.Asp305=)
c.720C>T (p.Asp240=)
c.669C>T (p.Asp223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603483G>CCA374105851FBP1c.1075C>G (n.1075C>G)
c.915C>G (p.Asp305Glu)
c.720C>G (p.Asp240Glu)
c.669C>G (p.Asp223Glu)
9g.94603483G=CA1865225143FBP1c.1075C= (n.1075C=)
c.915C= (p.Asp305=)
c.720C= (p.Asp240=)
c.669C= (p.Asp223=)
9g.94603483G>TCA374105849FBP1c.1075C>A (n.1075C>A)
c.915C>A (p.Asp305Glu)
c.720C>A (p.Asp240Glu)
c.669C>A (p.Asp223Glu)
9g.94603484T>ACA196550832FBP1c.1074A>T (n.1074A>T)
c.914A>T (p.Asp305Val)
c.719A>T (p.Asp240Val)
c.668A>T (p.Asp223Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94603484T>CCA5136075FBP1c.1074A>G (n.1074A>G)
c.914A>G (p.Asp305Gly)
c.719A>G (p.Asp240Gly)
c.668A>G (p.Asp223Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603484T>GCA374105853FBP1c.1074A>C (n.1074A>C)
c.914A>C (p.Asp305Ala)
c.719A>C (p.Asp240Ala)
c.668A>C (p.Asp223Ala)
9g.94603484T=CA1865225144FBP1c.1074A= (n.1074A=)
c.914A= (p.Asp305=)
c.719A= (p.Asp240=)
c.668A= (p.Asp223=)
9g.94603485C>ACA374105855FBP1c.1073G>T (n.1073G>T)
c.913G>T (p.Asp305Tyr)
c.718G>T (p.Asp240Tyr)
c.667G>T (p.Asp223Tyr)
9g.94603485C>GCA374105856FBP1c.1073G>C (n.1073G>C)
c.913G>C (p.Asp305His)
c.718G>C (p.Asp240His)
c.667G>C (p.Asp223His)
9g.94603485C>TCA374105858FBP1c.1073G>A (n.1073G>A)
c.913G>A (p.Asp305Asn)
c.718G>A (p.Asp240Asn)
c.667G>A (p.Asp223Asn)
9g.94603485_94603486delinsCTCA1865225145FBP1c.1072_1073delinsAG (n.1072_1073delinsAG)
c.912_913delinsAG (p.Leu304=)
c.717_718delinsAG (p.Leu239=)
c.666_667delinsAG (p.Leu222=)
9g.94603486delCA589580800FBP1c.1072del (n.1072del)
c.912del (p.Asp305ThrfsTer13)
c.717del (p.Asp240ThrfsTer13)
c.666del (p.Asp223ThrfsTer13)
 dbSNP gnomAD v2 gnomAD v4
9g.94603486T>ACA374105859FBP1c.1072A>T (n.1072A>T)
c.912A>T (p.Leu304Phe)
c.717A>T (p.Leu239Phe)
c.666A>T (p.Leu222Phe)
9g.94603486T>CCA466098523FBP1c.1072A>G (n.1072A>G)
c.912A>G (p.Leu304=)
c.717A>G (p.Leu239=)
c.666A>G (p.Leu222=)
9g.94603486T>GCA374105860FBP1c.1072A>C (n.1072A>C)
c.912A>C (p.Leu304Phe)
c.717A>C (p.Leu239Phe)
c.666A>C (p.Leu222Phe)
9g.94603487A>CCA374105862FBP1c.1071T>G (n.1071T>G)
c.911T>G (p.Leu304Ter)
c.716T>G (p.Leu239Ter)
c.665T>G (p.Leu222Ter)
9g.94603487A>GCA374105864FBP1c.1071T>C (n.1071T>C)
c.911T>C (p.Leu304Ser)
c.716T>C (p.Leu239Ser)
c.665T>C (p.Leu222Ser)
9g.94603487A>TCA374105865FBP1c.1071T>A (n.1071T>A)
c.911T>A (p.Leu304Ter)
c.716T>A (p.Leu239Ter)
c.665T>A (p.Leu222Ter)
9g.94603487_94603488dupCA2695210716FBP1c.1070_1071dup (n.1070_1071dup)
c.910_911dup (p.Leu304PhefsTer2)
c.715_716dup (p.Leu239PhefsTer2)
c.664_665dup (p.Leu222PhefsTer2)
9g.94603488A>CCA374105867FBP1c.1070T>G (n.1070T>G)
c.910T>G (p.Leu304Val)
c.715T>G (p.Leu239Val)
c.664T>G (p.Leu222Val)
9g.94603488A>GCA466098531FBP1c.1070T>C (n.1070T>C)
c.910T>C (p.Leu304=)
c.715T>C (p.Leu239=)
c.664T>C (p.Leu222=)
9g.94603488A>TCA374105866FBP1c.1070T>A (n.1070T>A)
c.910T>A (p.Leu304Ile)
c.715T>A (p.Leu239Ile)
c.664T>A (p.Leu222Ile)
 gnomAD v4
9g.94603489C>ACA466098541FBP1c.1069G>T (n.1069G>T)
c.909G>T (p.Val303=)
c.714G>T (p.Val238=)
c.663G>T (p.Val221=)
9g.94603489C=CA1865225146FBP1c.1069G= (n.1069G=)
c.909G= (p.Val303=)
c.714G= (p.Val238=)
c.663G= (p.Val221=)
9g.94603489C>GCA466098537FBP1c.1069G>C (n.1069G>C)
c.909G>C (p.Val303=)
c.714G>C (p.Val238=)
c.663G>C (p.Val221=)
 gnomAD v4
9g.94603489C>TCA466098535FBP1c.1069G>A (n.1069G>A)
c.909G>A (p.Val303=)
c.714G>A (p.Val238=)
c.663G>A (p.Val221=)
 dbSNP gnomAD v3 gnomAD v4
9g.94603490A>CCA374105869FBP1c.1068T>G (n.1068T>G)
c.908T>G (p.Val303Gly)
c.713T>G (p.Val238Gly)
c.662T>G (p.Val221Gly)
9g.94603490A>GCA374105871FBP1c.1068T>C (n.1068T>C)
c.908T>C (p.Val303Ala)
c.713T>C (p.Val238Ala)
c.662T>C (p.Val221Ala)
9g.94603490A>TCA374105872FBP1c.1068T>A (n.1068T>A)
c.908T>A (p.Val303Glu)
c.713T>A (p.Val238Glu)
c.662T>A (p.Val221Glu)
9g.94603491C>ACA374105874FBP1c.1067G>T (n.1067G>T)
c.907G>T (p.Val303Leu)
c.712G>T (p.Val238Leu)
c.661G>T (p.Val221Leu)
 dbSNP COSMIC
9g.94603491C=CA1865225147FBP1c.1067G= (n.1067G=)
c.907G= (p.Val303=)
c.712G= (p.Val238=)
c.661G= (p.Val221=)
9g.94603491C>GCA5136077FBP1c.1067G>C (n.1067G>C)
c.907G>C (p.Val303Leu)
c.712G>C (p.Val238Leu)
c.661G>C (p.Val221Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603491C>TCA5136076FBP1c.1067G>A (n.1067G>A)
c.907G>A (p.Val303Met)
c.712G>A (p.Val238Met)
c.661G>A (p.Val221Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603492G>ACA5136078FBP1c.1066C>T (n.1066C>T)
c.906C>T (p.Ala302=)
c.711C>T (p.Ala237=)
c.660C>T (p.Ala220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603492G>CCA466098552FBP1c.1066C>G (n.1066C>G)
c.906C>G (p.Ala302=)
c.711C>G (p.Ala237=)
c.660C>G (p.Ala220=)
9g.94603492G=CA1865225148FBP1c.1066C= (n.1066C=)
c.906C= (p.Ala302=)
c.711C= (p.Ala237=)
c.660C= (p.Ala220=)
9g.94603492G>TCA466098554FBP1c.1066C>A (n.1066C>A)
c.906C>A (p.Ala302=)
c.711C>A (p.Ala237=)
c.660C>A (p.Ala220=)
 dbSNP gnomAD v4
9g.94603493G>ACA374105880FBP1c.1065C>T (n.1065C>T)
c.905C>T (p.Ala302Val)
c.710C>T (p.Ala237Val)
c.659C>T (p.Ala220Val)
 dbSNP gnomAD v2 gnomAD v4
9g.94603493G>CCA374105877FBP1c.1065C>G (n.1065C>G)
c.905C>G (p.Ala302Gly)
c.710C>G (p.Ala237Gly)
c.659C>G (p.Ala220Gly)
9g.94603493G=CA1865225149FBP1c.1065C= (n.1065C=)
c.905C= (p.Ala302=)
c.710C= (p.Ala237=)
c.659C= (p.Ala220=)
9g.94603493G>TCA374105879FBP1c.1065C>A (n.1065C>A)
c.905C>A (p.Ala302Asp)
c.710C>A (p.Ala237Asp)
c.659C>A (p.Ala220Asp)
9g.94603494C>ACA374105881FBP1c.1064G>T (n.1064G>T)
c.904G>T (p.Ala302Ser)
c.709G>T (p.Ala237Ser)
c.658G>T (p.Ala220Ser)
 gnomAD v4
9g.94603494C=CA1865225150FBP1c.1064G= (n.1064G=)
c.904G= (p.Ala302=)
c.709G= (p.Ala237=)
c.658G= (p.Ala220=)
9g.94603494C>GCA374105882FBP1c.1064G>C (n.1064G>C)
c.904G>C (p.Ala302Pro)
c.709G>C (p.Ala237Pro)
c.658G>C (p.Ala220Pro)
9g.94603494C>TCA196550854FBP1c.1064G>A (n.1064G>A)
c.904G>A (p.Ala302Thr)
c.709G>A (p.Ala237Thr)
c.658G>A (p.Ala220Thr)
 dbSNP
9g.94603497_94603499delCA2695210717FBP1c.1062_1064del (n.1062_1064del)
c.902_904del (p.Glu301del)
c.707_709del (p.Glu236del)
c.656_658del (p.Glu219del)
9g.94603495C>ACA374105884FBP1c.1063G>T (n.1063G>T)
c.903G>T (p.Glu301Asp)
c.708G>T (p.Glu236Asp)
c.657G>T (p.Glu219Asp)
9g.94603495C=CA1865225151FBP1c.1063G= (n.1063G=)
c.903G= (p.Glu301=)
c.708G= (p.Glu236=)
c.657G= (p.Glu219=)
9g.94603495C>GCA374105886FBP1c.1063G>C (n.1063G>C)
c.903G>C (p.Glu301Asp)
c.708G>C (p.Glu236Asp)
c.657G>C (p.Glu219Asp)
9g.94603495C>TCA466098571FBP1c.1063G>A (n.1063G>A)
c.903G>A (p.Glu301=)
c.708G>A (p.Glu236=)
c.657G>A (p.Glu219=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94603496T>ACA374105888FBP1c.1062A>T (n.1062A>T)
c.902A>T (p.Glu301Val)
c.707A>T (p.Glu236Val)
c.656A>T (p.Glu219Val)
9g.94603496T>CCA374105891FBP1c.1062A>G (n.1062A>G)
c.902A>G (p.Glu301Gly)
c.707A>G (p.Glu236Gly)
c.656A>G (p.Glu219Gly)
9g.94603496T>GCA374105889FBP1c.1062A>C (n.1062A>C)
c.902A>C (p.Glu301Ala)
c.707A>C (p.Glu236Ala)
c.656A>C (p.Glu219Ala)
 dbSNP
9g.94603496T=CA1865225152FBP1c.1062A= (n.1062A=)
c.902A= (p.Glu301=)
c.707A= (p.Glu236=)
c.656A= (p.Glu219=)
9g.94603497C>ACA374105893FBP1c.1061G>T (n.1061G>T)
c.901G>T (p.Glu301Ter)
c.706G>T (p.Glu236Ter)
c.655G>T (p.Glu219Ter)
9g.94603497C=CA1865225153FBP1c.1061G= (n.1061G=)
c.901G= (p.Glu301=)
c.706G= (p.Glu236=)
c.655G= (p.Glu219=)
9g.94603497C>GCA374105895FBP1c.1061G>C (n.1061G>C)
c.901G>C (p.Glu301Gln)
c.706G>C (p.Glu236Gln)
c.655G>C (p.Glu219Gln)
 dbSNP gnomAD v4
9g.94603497C>TCA374105896FBP1c.1061G>A (n.1061G>A)
c.901G>A (p.Glu301Lys)
c.706G>A (p.Glu236Lys)
c.655G>A (p.Glu219Lys)
9g.94603498C>ACA374105898FBP1c.1060G>T (n.1060G>T)
c.900G>T (p.Lys300Asn)
c.705G>T (p.Lys235Asn)
c.654G>T (p.Lys218Asn)
9g.94603498C>GCA374105901FBP1c.1060G>C (n.1060G>C)
c.900G>C (p.Lys300Asn)
c.705G>C (p.Lys235Asn)
c.654G>C (p.Lys218Asn)
9g.94603498C>TCA466098590FBP1c.1060G>A (n.1060G>A)
c.900G>A (p.Lys300=)
c.705G>A (p.Lys235=)
c.654G>A (p.Lys218=)
 ClinVar COSMIC
9g.94603499T>ACA374105902FBP1c.1059A>T (n.1059A>T)
c.899A>T (p.Lys300Met)
c.704A>T (p.Lys235Met)
c.653A>T (p.Lys218Met)
9g.94603499T>CCA374105904FBP1c.1059A>G (n.1059A>G)
c.899A>G (p.Lys300Arg)
c.704A>G (p.Lys235Arg)
c.653A>G (p.Lys218Arg)
9g.94603499T>GCA374105905FBP1c.1059A>C (n.1059A>C)
c.899A>C (p.Lys300Thr)
c.704A>C (p.Lys235Thr)
c.653A>C (p.Lys218Thr)
9g.94603500T>ACA374105907FBP1c.1058A>T (n.1058A>T)
c.898A>T (p.Lys300Ter)
c.703A>T (p.Lys235Ter)
c.652A>T (p.Lys218Ter)
9g.94603500T>CCA374105908FBP1c.1058A>G (n.1058A>G)
c.898A>G (p.Lys300Glu)
c.703A>G (p.Lys235Glu)
c.652A>G (p.Lys218Glu)
9g.94603500T>GCA374105909FBP1c.1058A>C (n.1058A>C)
c.898A>C (p.Lys300Gln)
c.703A>C (p.Lys235Gln)
c.652A>C (p.Lys218Gln)
9g.94603501C>ACA466098613FBP1c.1057G>T (n.1057G>T)
c.897G>T (p.Gly299=)
c.702G>T (p.Gly234=)
c.651G>T (p.Gly217=)
9g.94603501C=CA1865225154FBP1c.1057G= (n.1057G=)
c.897G= (p.Gly299=)
c.702G= (p.Gly234=)
c.651G= (p.Gly217=)
9g.94603501C>GCA466098617FBP1c.1057G>C (n.1057G>C)
c.897G>C (p.Gly299=)
c.702G>C (p.Gly234=)
c.651G>C (p.Gly217=)
9g.94603501C>TCA466098615FBP1c.1057G>A (n.1057G>A)
c.897G>A (p.Gly299=)
c.702G>A (p.Gly234=)
c.651G>A (p.Gly217=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94603502C>ACA374105910FBP1c.1056G>T (n.1056G>T)
c.896G>T (p.Gly299Val)
c.701G>T (p.Gly234Val)
c.650G>T (p.Gly217Val)
9g.94603502C=CA1865225155FBP1c.1056G= (n.1056G=)
c.896G= (p.Gly299=)
c.701G= (p.Gly234=)
c.650G= (p.Gly217=)
9g.94603502C>GCA374105912FBP1c.1056G>C (n.1056G>C)
c.896G>C (p.Gly299Ala)
c.701G>C (p.Gly234Ala)
c.650G>C (p.Gly217Ala)
9g.94603502C>TCA374105911FBP1c.1056G>A (n.1056G>A)
c.896G>A (p.Gly299Glu)
c.701G>A (p.Gly234Glu)
c.650G>A (p.Gly217Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94603503C>ACA374105914FBP1c.1055G>T (n.1055G>T)
c.895G>T (p.Gly299Trp)
c.700G>T (p.Gly234Trp)
c.649G>T (p.Gly217Trp)
9g.94603503C>GCA374105917FBP1c.1055G>C (n.1055G>C)
c.895G>C (p.Gly299Arg)
c.700G>C (p.Gly234Arg)
c.649G>C (p.Gly217Arg)
9g.94603503C>TCA374105915FBP1c.1055G>A (n.1055G>A)
c.895G>A (p.Gly299Arg)
c.700G>A (p.Gly234Arg)
c.649G>A (p.Gly217Arg)
9g.94603504A>CCA466098626FBP1c.1054T>G (n.1054T>G)
c.894T>G (p.Thr298=)
c.699T>G (p.Thr233=)
c.648T>G (p.Thr216=)
 gnomAD v4
9g.94603504A>GCA466098631FBP1c.1054T>C (n.1054T>C)
c.894T>C (p.Thr298=)
c.699T>C (p.Thr233=)
c.648T>C (p.Thr216=)
 ClinVar
9g.94603504A>TCA466098633FBP1c.1054T>A (n.1054T>A)
c.894T>A (p.Thr298=)
c.699T>A (p.Thr233=)
c.648T>A (p.Thr216=)
9g.94603505G>ACA374105918FBP1c.1053C>T (n.1053C>T)
c.893C>T (p.Thr298Ile)
c.698C>T (p.Thr233Ile)
c.647C>T (p.Thr216Ile)
9g.94603505G>CCA374105920FBP1c.1053C>G (n.1053C>G)
c.893C>G (p.Thr298Ser)
c.698C>G (p.Thr233Ser)
c.647C>G (p.Thr216Ser)
 dbSNP
9g.94603505G=CA1865225156FBP1c.1053C= (n.1053C=)
c.893C= (p.Thr298=)
c.698C= (p.Thr233=)
c.647C= (p.Thr216=)
9g.94603505G>TCA374105921FBP1c.1053C>A (n.1053C>A)
c.893C>A (p.Thr298Asn)
c.698C>A (p.Thr233Asn)
c.647C>A (p.Thr216Asn)
9g.94603506T>ACA374105923FBP1c.1052A>T (n.1052A>T)
c.892A>T (p.Thr298Ser)
c.697A>T (p.Thr233Ser)
c.646A>T (p.Thr216Ser)
9g.94603506T>CCA5136079FBP1c.1052A>G (n.1052A>G)
c.892A>G (p.Thr298Ala)
c.697A>G (p.Thr233Ala)
c.646A>G (p.Thr216Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603506T>GCA374105926FBP1c.1052A>C (n.1052A>C)
c.892A>C (p.Thr298Pro)
c.697A>C (p.Thr233Pro)
c.646A>C (p.Thr216Pro)
9g.94603506T=CA1865225157FBP1c.1052A= (n.1052A=)
c.892A= (p.Thr298=)
c.697A= (p.Thr233=)
c.646A= (p.Thr216=)
9g.94603507G>ACA466098641FBP1c.1051C>T (n.1051C>T)
c.891C>T (p.Thr297=)
c.696C>T (p.Thr232=)
c.645C>T (p.Thr215=)
9g.94603507G>CCA5136080FBP1c.1051C>G (n.1051C>G)
c.891C>G (p.Thr297=)
c.696C>G (p.Thr232=)
c.645C>G (p.Thr215=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603507G=CA1865225158FBP1c.1051C= (n.1051C=)
c.891C= (p.Thr297=)
c.696C= (p.Thr232=)
c.645C= (p.Thr215=)
9g.94603507G>TCA466098643FBP1c.1051C>A (n.1051C>A)
c.891C>A (p.Thr297=)
c.696C>A (p.Thr232=)
c.645C>A (p.Thr215=)
9g.94603508G>ACA374105929FBP1c.1050C>T (n.1050C>T)
c.890C>T (p.Thr297Ile)
c.695C>T (p.Thr232Ile)
c.644C>T (p.Thr215Ile)
 dbSNP
9g.94603508G>CCA374105930FBP1c.1050C>G (n.1050C>G)
c.890C>G (p.Thr297Ser)
c.695C>G (p.Thr232Ser)
c.644C>G (p.Thr215Ser)
9g.94603508G=CA1865225159FBP1c.1050C= (n.1050C=)
c.890C= (p.Thr297=)
c.695C= (p.Thr232=)
c.644C= (p.Thr215=)
9g.94603508G>TCA374105931FBP1c.1050C>A (n.1050C>A)
c.890C>A (p.Thr297Asn)
c.695C>A (p.Thr232Asn)
c.644C>A (p.Thr215Asn)
9g.94603509T>ACA374105932FBP1c.1049A>T (n.1049A>T)
c.889A>T (p.Thr297Ser)
c.694A>T (p.Thr232Ser)
c.643A>T (p.Thr215Ser)
9g.94603509T>CCA5136081FBP1c.1049A>G (n.1049A>G)
c.889A>G (p.Thr297Ala)
c.694A>G (p.Thr232Ala)
c.643A>G (p.Thr215Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603509T>GCA374105934FBP1c.1049A>C (n.1049A>C)
c.889A>C (p.Thr297Pro)
c.694A>C (p.Thr232Pro)
c.643A>C (p.Thr215Pro)
 gnomAD v4
9g.94603509T=CA1865225160FBP1c.1049A= (n.1049A=)
c.889A= (p.Thr297=)
c.694A= (p.Thr232=)
c.643A= (p.Thr215=)
9g.94603510G>ACA466098655FBP1c.1048C>T (n.1048C>T)
c.888C>T (p.Ala296=)
c.693C>T (p.Ala231=)
c.642C>T (p.Ala214=)
 gnomAD v4
9g.94603510G>CCA466098660FBP1c.1048C>G (n.1048C>G)
c.888C>G (p.Ala296=)
c.693C>G (p.Ala231=)
c.642C>G (p.Ala214=)
9g.94603510G>TCA466098664FBP1c.1048C>A (n.1048C>A)
c.888C>A (p.Ala296=)
c.693C>A (p.Ala231=)
c.642C>A (p.Ala214=)
9g.94603511G>ACA374105939FBP1c.1047C>T (n.1047C>T)
c.887C>T (p.Ala296Val)
c.692C>T (p.Ala231Val)
c.641C>T (p.Ala214Val)
 gnomAD v4
9g.94603511G>CCA374105936FBP1c.1047C>G (n.1047C>G)
c.887C>G (p.Ala296Gly)
c.692C>G (p.Ala231Gly)
c.641C>G (p.Ala214Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.94603511G=CA1865225161FBP1c.1047C= (n.1047C=)
c.887C= (p.Ala296=)
c.692C= (p.Ala231=)
c.641C= (p.Ala214=)
9g.94603511G>TCA374105938FBP1c.1047C>A (n.1047C>A)
c.887C>A (p.Ala296Asp)
c.692C>A (p.Ala231Asp)
c.641C>A (p.Ala214Asp)
 gnomAD v4
9g.94603512C>ACA374105941FBP1c.1046G>T (n.1046G>T)
c.886G>T (p.Ala296Ser)
c.691G>T (p.Ala231Ser)
c.640G>T (p.Ala214Ser)
9g.94603512C>GCA374105942FBP1c.1046G>C (n.1046G>C)
c.886G>C (p.Ala296Pro)
c.691G>C (p.Ala231Pro)
c.640G>C (p.Ala214Pro)
9g.94603512C>TCA374105943FBP1c.1046G>A (n.1046G>A)
c.886G>A (p.Ala296Thr)
c.691G>A (p.Ala231Thr)
c.640G>A (p.Ala214Thr)
9g.94603513C>ACA374105945FBP1c.1045G>T (n.1045G>T)
c.885G>T (p.Met295Ile)
c.690G>T (p.Met230Ile)
c.639G>T (p.Met213Ile)
9g.94603513C>GCA374105946FBP1c.1045G>C (n.1045G>C)
c.885G>C (p.Met295Ile)
c.690G>C (p.Met230Ile)
c.639G>C (p.Met213Ile)
9g.94603513C>TCA374105948FBP1c.1045G>A (n.1045G>A)
c.885G>A (p.Met295Ile)
c.690G>A (p.Met230Ile)
c.639G>A (p.Met213Ile)
 gnomAD v4
9g.94603514A=CA1865225162FBP1c.1044T= (n.1044T=)
c.884T= (p.Met295=)
c.689T= (p.Met230=)
c.638T= (p.Met213=)
9g.94603514A>CCA374105950FBP1c.1044T>G (n.1044T>G)
c.884T>G (p.Met295Arg)
c.689T>G (p.Met230Arg)
c.638T>G (p.Met213Arg)
9g.94603514A>GCA374105951FBP1c.1044T>C (n.1044T>C)
c.884T>C (p.Met295Thr)
c.689T>C (p.Met230Thr)
c.638T>C (p.Met213Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.94603514A>TCA374105953FBP1c.1044T>A (n.1044T>A)
c.884T>A (p.Met295Lys)
c.689T>A (p.Met230Lys)
c.638T>A (p.Met213Lys)
9g.94603515T>ACA374105955FBP1c.1043A>T (n.1043A>T)
c.883A>T (p.Met295Leu)
c.688A>T (p.Met230Leu)
c.637A>T (p.Met213Leu)
9g.94603515T>CCA374105956FBP1c.1043A>G (n.1043A>G)
c.883A>G (p.Met295Val)
c.688A>G (p.Met230Val)
c.637A>G (p.Met213Val)
 dbSNP
9g.94603515T>GCA374105958FBP1c.1043A>C (n.1043A>C)
c.883A>C (p.Met295Leu)
c.688A>C (p.Met230Leu)
c.637A>C (p.Met213Leu)
9g.94603515T=CA1865225163FBP1c.1043A= (n.1043A=)
c.883A= (p.Met295=)
c.688A= (p.Met230=)
c.637A= (p.Met213=)
9g.94603516dupCA2690770933FBP1c.1043dup (n.1043dup)
c.883dup (p.Met295AsnfsTer?)
c.688dup (p.Met230AsnfsTer?)
c.637dup (p.Met213AsnfsTer?)
 gnomAD v4
9g.94603516T>ACA466098693FBP1c.1042A>T (n.1042A>T)
c.882A>T (p.Gly294=)
c.687A>T (p.Gly229=)
c.636A>T (p.Gly212=)
9g.94603516T>CCA466098694FBP1c.1042A>G (n.1042A>G)
c.882A>G (p.Gly294=)
c.687A>G (p.Gly229=)
c.636A>G (p.Gly212=)
9g.94603516T>GCA466098698FBP1c.1042A>C (n.1042A>C)
c.882A>C (p.Gly294=)
c.687A>C (p.Gly229=)
c.636A>C (p.Gly212=)
 dbSNP
9g.94603516T=CA1865225164FBP1c.1042A= (n.1042A=)
c.882A= (p.Gly294=)
c.687A= (p.Gly229=)
c.636A= (p.Gly212=)
9g.94603517C>ACA5136082FBP1c.1041G>T (n.1041G>T)
c.881G>T (p.Gly294Val)
c.686G>T (p.Gly229Val)
c.635G>T (p.Gly212Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603517C=CA1865225165FBP1c.1041G= (n.1041G=)
c.881G= (p.Gly294=)
c.686G= (p.Gly229=)
c.635G= (p.Gly212=)
9g.94603517C>GCA374105960FBP1c.1041G>C (n.1041G>C)
c.881G>C (p.Gly294Ala)
c.686G>C (p.Gly229Ala)
c.635G>C (p.Gly212Ala)
9g.94603517C>TCA5136083FBP1c.1041G>A (n.1041G>A)
c.881G>A (p.Gly294Glu)
c.686G>A (p.Gly229Glu)
c.635G>A (p.Gly212Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603521dupCA2690770934FBP1c.1041dup (n.1041dup)
c.881dup (p.Met295AsnfsTer?)
c.686dup (p.Met230AsnfsTer?)
c.635dup (p.Met213AsnfsTer?)
 gnomAD v4
9g.94603521delCA2695210718FBP1c.1041del (n.1041del)
c.881del (p.Gly294GlufsTer11)
c.686del (p.Gly229GlufsTer11)
c.635del (p.Gly212GlufsTer11)
9g.94603518C>ACA374105962FBP1c.1040G>T (n.1040G>T)
c.880G>T (p.Gly294Ter)
c.685G>T (p.Gly229Ter)
c.634G>T (p.Gly212Ter)
9g.94603518C=CA1865225166FBP1c.1040G= (n.1040G=)
c.880G= (p.Gly294=)
c.685G= (p.Gly229=)
c.634G= (p.Gly212=)
9g.94603518C>GCA374105964FBP1c.1040G>C (n.1040G>C)
c.880G>C (p.Gly294Arg)
c.685G>C (p.Gly229Arg)
c.634G>C (p.Gly212Arg)
9g.94603518C>TCA16618870FBP1c.1040G>A (n.1040G>A)
c.880G>A (p.Gly294Arg)
c.685G>A (p.Gly229Arg)
c.634G>A (p.Gly212Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94603519C>ACA466098714FBP1c.1039G>T (n.1039G>T)
c.879G>T (p.Gly293=)
c.684G>T (p.Gly228=)
c.633G>T (p.Gly211=)
9g.94603519C=CA1865225167FBP1c.1039G= (n.1039G=)
c.879G= (p.Gly293=)
c.684G= (p.Gly228=)
c.633G= (p.Gly211=)
9g.94603519C>GCA466098715FBP1c.1039G>C (n.1039G>C)
c.879G>C (p.Gly293=)
c.684G>C (p.Gly228=)
c.633G>C (p.Gly211=)
9g.94603519C>TCA466098718FBP1c.1039G>A (n.1039G>A)
c.879G>A (p.Gly293=)
c.684G>A (p.Gly228=)
c.633G>A (p.Gly211=)
 dbSNP gnomAD v2 gnomAD v4
9g.94603520C>ACA374105965FBP1c.1038G>T (n.1038G>T)
c.878G>T (p.Gly293Val)
c.683G>T (p.Gly228Val)
c.632G>T (p.Gly211Val)
9g.94603520C>GCA374105967FBP1c.1038G>C (n.1038G>C)
c.878G>C (p.Gly293Ala)
c.683G>C (p.Gly228Ala)
c.632G>C (p.Gly211Ala)
9g.94603520C>TCA374105969FBP1c.1038G>A (n.1038G>A)
c.878G>A (p.Gly293Glu)
c.683G>A (p.Gly228Glu)
c.632G>A (p.Gly211Glu)
 gnomAD v4
9g.94603521C>ACA5136084FBP1c.1037G>T (n.1037G>T)
c.877G>T (p.Gly293Trp)
c.682G>T (p.Gly228Trp)
c.631G>T (p.Gly211Trp)
 dbSNP ExAC gnomAD v2
9g.94603521C=CA1865225168FBP1c.1037G= (n.1037G=)
c.877G= (p.Gly293=)
c.682G= (p.Gly228=)
c.631G= (p.Gly211=)
9g.94603521C>GCA374105971FBP1c.1037G>C (n.1037G>C)
c.877G>C (p.Gly293Arg)
c.682G>C (p.Gly228Arg)
c.631G>C (p.Gly211Arg)
9g.94603521C>TCA374105972FBP1c.1037G>A (n.1037G>A)
c.877G>A (p.Gly293Arg)
c.682G>A (p.Gly228Arg)
c.631G>A (p.Gly211Arg)
9g.94603522A>CCA466098728FBP1c.1036T>G (n.1036T>G)
c.876T>G (p.Ala292=)
c.681T>G (p.Ala227=)
c.630T>G (p.Ala210=)
9g.94603522A>GCA466098735FBP1c.1036T>C (n.1036T>C)
c.876T>C (p.Ala292=)
c.681T>C (p.Ala227=)
c.630T>C (p.Ala210=)
9g.94603522A>TCA466098736FBP1c.1036T>A (n.1036T>A)
c.876T>A (p.Ala292=)
c.681T>A (p.Ala227=)
c.630T>A (p.Ala210=)
9g.94603523G>ACA374105974FBP1c.1035C>T (n.1035C>T)
c.875C>T (p.Ala292Val)
c.680C>T (p.Ala227Val)
c.629C>T (p.Ala210Val)
 gnomAD v4
9g.94603523G>CCA374105976FBP1c.1035C>G (n.1035C>G)
c.875C>G (p.Ala292Gly)
c.680C>G (p.Ala227Gly)
c.629C>G (p.Ala210Gly)
9g.94603523G>TCA374105977FBP1c.1035C>A (n.1035C>A)
c.875C>A (p.Ala292Asp)
c.680C>A (p.Ala227Asp)
c.629C>A (p.Ala210Asp)
9g.94603524C>ACA5136085FBP1c.1034G>T (n.1034G>T)
c.874G>T (p.Ala292Ser)
c.679G>T (p.Ala227Ser)
c.628G>T (p.Ala210Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603524C=CA1865225169FBP1c.1034G= (n.1034G=)
c.874G= (p.Ala292=)
c.679G= (p.Ala227=)
c.628G= (p.Ala210=)
9g.94603524C>GCA374105981FBP1c.1034G>C (n.1034G>C)
c.874G>C (p.Ala292Pro)
c.679G>C (p.Ala227Pro)
c.628G>C (p.Ala210Pro)
 dbSNP gnomAD v3 gnomAD v4
9g.94603524C>TCA374105979FBP1c.1034G>A (n.1034G>A)
c.874G>A (p.Ala292Thr)
c.679G>A (p.Ala227Thr)
c.628G>A (p.Ala210Thr)
 gnomAD v4
9g.94603525C>ACA374105983FBP1c.1033G>T (n.1033G>T)
c.873G>T (p.Lys291Asn)
c.678G>T (p.Lys226Asn)
c.627G>T (p.Lys209Asn)
9g.94603525C=CA1865225170FBP1c.1033G= (n.1033G=)
c.873G= (p.Lys291=)
c.678G= (p.Lys226=)
c.627G= (p.Lys209=)
9g.94603525C>GCA374105985FBP1c.1033G>C (n.1033G>C)
c.873G>C (p.Lys291Asn)
c.678G>C (p.Lys226Asn)
c.627G>C (p.Lys209Asn)
9g.94603525C>TCA466098764FBP1c.1033G>A (n.1033G>A)
c.873G>A (p.Lys291=)
c.678G>A (p.Lys226=)
c.627G>A (p.Lys209=)
 dbSNP
9g.94603526T>ACA374105987FBP1c.1032A>T (n.1032A>T)
c.872A>T (p.Lys291Met)
c.677A>T (p.Lys226Met)
c.626A>T (p.Lys209Met)
9g.94603526T>CCA374105988FBP1c.1032A>G (n.1032A>G)
c.872A>G (p.Lys291Arg)
c.677A>G (p.Lys226Arg)
c.626A>G (p.Lys209Arg)
9g.94603526T>GCA374105990FBP1c.1032A>C (n.1032A>C)
c.872A>C (p.Lys291Thr)
c.677A>C (p.Lys226Thr)
c.626A>C (p.Lys209Thr)
9g.94603527T>ACA374105991FBP1c.1031A>T (n.1031A>T)
c.871A>T (p.Lys291Ter)
c.676A>T (p.Lys226Ter)
c.625A>T (p.Lys209Ter)
9g.94603527T>CCA374105993FBP1c.1031A>G (n.1031A>G)
c.871A>G (p.Lys291Glu)
c.676A>G (p.Lys226Glu)
c.625A>G (p.Lys209Glu)
9g.94603527T>GCA374105995FBP1c.1031A>C (n.1031A>C)
c.871A>C (p.Lys291Gln)
c.676A>C (p.Lys226Gln)
c.625A>C (p.Lys209Gln)
9g.94603528C>ACA374105997FBP1c.1030G>T (n.1030G>T)
c.870G>T (p.Glu290Asp)
c.675G>T (p.Glu225Asp)
c.624G>T (p.Glu208Asp)
9g.94603528C>GCA374105998FBP1c.1030G>C (n.1030G>C)
c.870G>C (p.Glu290Asp)
c.675G>C (p.Glu225Asp)
c.624G>C (p.Glu208Asp)
9g.94603528C>TCA466098777FBP1c.1030G>A (n.1030G>A)
c.870G>A (p.Glu290=)
c.675G>A (p.Glu225=)
c.624G>A (p.Glu208=)
9g.94603529T>ACA374106001FBP1c.1029A>T (n.1029A>T)
c.869A>T (p.Glu290Val)
c.674A>T (p.Glu225Val)
c.623A>T (p.Glu208Val)
9g.94603529T>CCA374106002FBP1c.1029A>G (n.1029A>G)
c.869A>G (p.Glu290Gly)
c.674A>G (p.Glu225Gly)
c.623A>G (p.Glu208Gly)
9g.94603529T>GCA374105999FBP1c.1029A>C (n.1029A>C)
c.869A>C (p.Glu290Ala)
c.674A>C (p.Glu225Ala)
c.623A>C (p.Glu208Ala)
9g.94603530C>ACA374106003FBP1c.1028G>T (n.1028G>T)
c.868G>T (p.Glu290Ter)
c.673G>T (p.Glu225Ter)
c.622G>T (p.Glu208Ter)
 gnomAD v4
9g.94603530C>GCA374106004FBP1c.1028G>C (n.1028G>C)
c.868G>C (p.Glu290Gln)
c.673G>C (p.Glu225Gln)
c.622G>C (p.Glu208Gln)
9g.94603530C>TCA374106005FBP1c.1028G>A (n.1028G>A)
c.868G>A (p.Glu290Lys)
c.673G>A (p.Glu225Lys)
c.622G>A (p.Glu208Lys)
9g.94603531C>ACA374106006FBP1c.1027G>T (n.1027G>T)
c.867G>T (p.Met289Ile)
c.672G>T (p.Met224Ile)
c.621G>T (p.Met207Ile)
9g.94603531C=CA1865225171FBP1c.1027G= (n.1027G=)
c.867G= (p.Met289=)
c.672G= (p.Met224=)
c.621G= (p.Met207=)
9g.94603531C>GCA374106007FBP1c.1027G>C (n.1027G>C)
c.867G>C (p.Met289Ile)
c.672G>C (p.Met224Ile)
c.621G>C (p.Met207Ile)
 gnomAD v4
9g.94603531C>TCA5136086FBP1c.1027G>A (n.1027G>A)
c.867G>A (p.Met289Ile)
c.672G>A (p.Met224Ile)
c.621G>A (p.Met207Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94603532A=CA1865225172FBP1c.1026T= (n.1026T=)
c.866T= (p.Met289=)
c.671T= (p.Met224=)
c.620T= (p.Met207=)
9g.94603532A>CCA374106012FBP1c.1026T>G (n.1026T>G)
c.866T>G (p.Met289Arg)
c.671T>G (p.Met224Arg)
c.620T>G (p.Met207Arg)
9g.94603532A>GCA196550915FBP1c.1026T>C (n.1026T>C)
c.866T>C (p.Met289Thr)
c.671T>C (p.Met224Thr)
c.620T>C (p.Met207Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.94603532A>TCA374106010FBP1c.1026T>A (n.1026T>A)
c.866T>A (p.Met289Lys)
c.671T>A (p.Met224Lys)
c.620T>A (p.Met207Lys)
9g.94603533T>ACA319841FBP1c.1025A>T (n.1025A>T)
c.865A>T (p.Met289Leu)
c.670A>T (p.Met224Leu)
c.619A>T (p.Met207Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603533T>CCA374106015FBP1c.1025A>G (n.1025A>G)
c.865A>G (p.Met289Val)
c.670A>G (p.Met224Val)
c.619A>G (p.Met207Val)
9g.94603533T>GCA374106017FBP1c.1025A>C (n.1025A>C)
c.865A>C (p.Met289Leu)
c.670A>C (p.Met224Leu)
c.619A>C (p.Met207Leu)
 COSMIC
9g.94603533T=CA1865225173FBP1c.1025A= (n.1025A=)
c.865A= (p.Met289=)
c.670A= (p.Met224=)
c.619A= (p.Met207=)
9g.94603533dupCA2695210719FBP1c.1025dup (n.1025dup)
c.865dup (p.Met289AsnfsTer?)
c.670dup (p.Met224AsnfsTer?)
c.619dup (p.Met207AsnfsTer?)
9g.94603534G>ACA466098811FBP1c.1024C>T (n.1024C>T)
c.864C>T (p.Val288=)
c.669C>T (p.Val223=)
c.618C>T (p.Val206=)
9g.94603534G>CCA466098813FBP1c.1024C>G (n.1024C>G)
c.864C>G (p.Val288=)
c.669C>G (p.Val223=)
c.618C>G (p.Val206=)
9g.94603534G>TCA466098815FBP1c.1024C>A (n.1024C>A)
c.864C>A (p.Val288=)
c.669C>A (p.Val223=)
c.618C>A (p.Val206=)
 gnomAD v4
9g.94603535A=CA1865225174FBP1c.1023T= (n.1023T=)
c.863T= (p.Val288=)
c.668T= (p.Val223=)
c.617T= (p.Val206=)
9g.94603535A>CCA374106020FBP1c.1023T>G (n.1023T>G)
c.863T>G (p.Val288Gly)
c.668T>G (p.Val223Gly)
c.617T>G (p.Val206Gly)
9g.94603535A>GCA374106021FBP1c.1023T>C (n.1023T>C)
c.863T>C (p.Val288Ala)
c.668T>C (p.Val223Ala)
c.617T>C (p.Val206Ala)
9g.94603535A>TCA374106022FBP1c.1023T>A (n.1023T>A)
c.863T>A (p.Val288Asp)
c.668T>A (p.Val223Asp)
c.617T>A (p.Val206Asp)
 dbSNP
9g.94603536_94603539dupCA2739269401FBP1c.1020_1023dup (n.1020_1023dup)
c.860_863dup (p.Met289ArgfsTer?)
c.665_668dup (p.Met224ArgfsTer?)
c.614_617dup (p.Met207ArgfsTer?)
 ClinVar
9g.94603536C>ACA374106025FBP1c.1022G>T (n.1022G>T)
c.862G>T (p.Val288Phe)
c.667G>T (p.Val223Phe)
c.616G>T (p.Val206Phe)
 COSMIC
9g.94603536C=CA1865225175FBP1c.1022G= (n.1022G=)
c.862G= (p.Val288=)
c.667G= (p.Val223=)
c.616G= (p.Val206=)
9g.94603536C>GCA374106027FBP1c.1022G>C (n.1022G>C)
c.862G>C (p.Val288Leu)
c.667G>C (p.Val223Leu)
c.616G>C (p.Val206Leu)
9g.94603536C>TCA196550928FBP1c.1022G>A (n.1022G>A)
c.862G>A (p.Val288Ile)
c.667G>A (p.Val223Ile)
c.616G>A (p.Val206Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.94603537delCA2579387187FBP1c.1021del (n.1021del)
c.861del (p.Tyr287Ter)
c.666del (p.Tyr222Ter)
c.615del (p.Tyr205Ter)
 gnomAD v4
9g.94603537G>ACA5136087FBP1c.1021C>T (n.1021C>T)
c.861C>T (p.Tyr287=)
c.666C>T (p.Tyr222=)
c.615C>T (p.Tyr205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603537G>CCA374106030FBP1c.1021C>G (n.1021C>G)
c.861C>G (p.Tyr287Ter)
c.666C>G (p.Tyr222Ter)
c.615C>G (p.Tyr205Ter)
9g.94603537G=CA1865225176FBP1c.1021C= (n.1021C=)
c.861C= (p.Tyr287=)
c.666C= (p.Tyr222=)
c.615C= (p.Tyr205=)
9g.94603537G>TCA374106033FBP1c.1021C>A (n.1021C>A)
c.861C>A (p.Tyr287Ter)
c.666C>A (p.Tyr222Ter)
c.615C>A (p.Tyr205Ter)
9g.94603537_94603549dupCA2690770935FBP1c.1009_1021dup (n.1009_1021dup)
c.849_861dup (p.Val288ProfsTer?)
c.654_666dup (p.Val223ProfsTer?)
c.603_615dup (p.Val206ProfsTer?)
 gnomAD v4
9g.94603538T>ACA374106035FBP1c.1020A>T (n.1020A>T)
c.860A>T (p.Tyr287Phe)
c.665A>T (p.Tyr222Phe)
c.614A>T (p.Tyr205Phe)
9g.94603538T>CCA374106037FBP1c.1020A>G (n.1020A>G)
c.860A>G (p.Tyr287Cys)
c.665A>G (p.Tyr222Cys)
c.614A>G (p.Tyr205Cys)
 COSMIC
9g.94603538T>GCA374106039FBP1c.1020A>C (n.1020A>C)
c.860A>C (p.Tyr287Ser)
c.665A>C (p.Tyr222Ser)
c.614A>C (p.Tyr205Ser)
9g.94603539A=CA1865225177FBP1c.1019T= (n.1019T=)
c.859T= (p.Tyr287=)
c.664T= (p.Tyr222=)
c.613T= (p.Tyr205=)
9g.94603539A>CCA374106041FBP1c.1019T>G (n.1019T>G)
c.859T>G (p.Tyr287Asp)
c.664T>G (p.Tyr222Asp)
c.613T>G (p.Tyr205Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.94603539A>GCA374106042FBP1c.1019T>C (n.1019T>C)
c.859T>C (p.Tyr287His)
c.664T>C (p.Tyr222His)
c.613T>C (p.Tyr205His)
9g.94603539A>TCA374106044FBP1c.1019T>A (n.1019T>A)
c.859T>A (p.Tyr287Asn)
c.664T>A (p.Tyr222Asn)
c.613T>A (p.Tyr205Asn)
9g.94603540G>ACA466098842FBP1c.1018C>T (n.1018C>T)
c.858C>T (p.Ala286=)
c.663C>T (p.Ala221=)
c.612C>T (p.Ala204=)
9g.94603540G>CCA466098845FBP1c.1018C>G (n.1018C>G)
c.858C>G (p.Ala286=)
c.663C>G (p.Ala221=)
c.612C>G (p.Ala204=)
9g.94603540G>TCA466098850FBP1c.1018C>A (n.1018C>A)
c.858C>A (p.Ala286=)
c.663C>A (p.Ala221=)
c.612C>A (p.Ala204=)
9g.94603541G>ACA374106046FBP1c.1017C>T (n.1017C>T)
c.857C>T (p.Ala286Val)
c.662C>T (p.Ala221Val)
c.611C>T (p.Ala204Val)
9g.94603541G>CCA374106048FBP1c.1017C>G (n.1017C>G)
c.857C>G (p.Ala286Gly)
c.662C>G (p.Ala221Gly)
c.611C>G (p.Ala204Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.94603541G=CA1865225178FBP1c.1017C= (n.1017C=)
c.857C= (p.Ala286=)
c.662C= (p.Ala221=)
c.611C= (p.Ala204=)
9g.94603541G>TCA374106049FBP1c.1017C>A (n.1017C>A)
c.857C>A (p.Ala286Asp)
c.662C>A (p.Ala221Asp)
c.611C>A (p.Ala204Asp)
9g.94603542C>ACA374106051FBP1c.1016G>T (n.1016G>T)
c.856G>T (p.Ala286Ser)
c.661G>T (p.Ala221Ser)
c.610G>T (p.Ala204Ser)
9g.94603542C>GCA374106054FBP1c.1016G>C (n.1016G>C)
c.856G>C (p.Ala286Pro)
c.661G>C (p.Ala221Pro)
c.610G>C (p.Ala204Pro)
9g.94603542C>TCA374106052FBP1c.1016G>A (n.1016G>A)
c.856G>A (p.Ala286Thr)
c.661G>A (p.Ala221Thr)
c.610G>A (p.Ala204Thr)
9g.94603543C>ACA374106057FBP1c.1015G>T (n.1015G>T)
c.855G>T (p.Met285Ile)
c.660G>T (p.Met220Ile)
c.609G>T (p.Met203Ile)
9g.94603543C>GCA374106059FBP1c.1015G>C (n.1015G>C)
c.855G>C (p.Met285Ile)
c.660G>C (p.Met220Ile)
c.609G>C (p.Met203Ile)
9g.94603543C>TCA374106061FBP1c.1015G>A (n.1015G>A)
c.855G>A (p.Met285Ile)
c.660G>A (p.Met220Ile)
c.609G>A (p.Met203Ile)
9g.94603544A>CCA374106064FBP1c.1014T>G (n.1014T>G)
c.854T>G (p.Met285Arg)
c.659T>G (p.Met220Arg)
c.608T>G (p.Met203Arg)
9g.94603544A>GCA374106065FBP1c.1014T>C (n.1014T>C)
c.854T>C (p.Met285Thr)
c.659T>C (p.Met220Thr)
c.608T>C (p.Met203Thr)
9g.94603544A>TCA374106067FBP1c.1014T>A (n.1014T>A)
c.854T>A (p.Met285Lys)
c.659T>A (p.Met220Lys)
c.608T>A (p.Met203Lys)
9g.94603545T>ACA374106068FBP1c.1013A>T (n.1013A>T)
c.853A>T (p.Met285Leu)
c.658A>T (p.Met220Leu)
c.607A>T (p.Met203Leu)
9g.94603545T>CCA374106070FBP1c.1013A>G (n.1013A>G)
c.853A>G (p.Met285Val)
c.658A>G (p.Met220Val)
c.607A>G (p.Met203Val)
 dbSNP
9g.94603545T>GCA374106071FBP1c.1013A>C (n.1013A>C)
c.853A>C (p.Met285Leu)
c.658A>C (p.Met220Leu)
c.607A>C (p.Met203Leu)
 COSMIC
9g.94603545T=CA1865225179FBP1c.1013A= (n.1013A=)
c.853A= (p.Met285=)
c.658A= (p.Met220=)
c.607A= (p.Met203=)

Number of alleles fetched