Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94605458T>ACA374106310FBP1c.984A>T (n.984A>T)
c.824A>T (p.Lys275Met)
c.629A>T (p.Lys210Met)
c.578A>T (p.Lys193Met)
9g.94605458T>CCA374106311FBP1c.984A>G (n.984A>G)
c.824A>G (p.Lys275Arg)
c.629A>G (p.Lys210Arg)
c.578A>G (p.Lys193Arg)
 COSMIC
9g.94605458T>GCA374106312FBP1c.984A>C (n.984A>C)
c.824A>C (p.Lys275Thr)
c.629A>C (p.Lys210Thr)
c.578A>C (p.Lys193Thr)
9g.94605459T>ACA374106313FBP1c.983A>T (n.983A>T)
c.823A>T (p.Lys275Ter)
c.628A>T (p.Lys210Ter)
c.577A>T (p.Lys193Ter)
9g.94605459T>CCA374106314FBP1c.983A>G (n.983A>G)
c.823A>G (p.Lys275Glu)
c.628A>G (p.Lys210Glu)
c.577A>G (p.Lys193Glu)
9g.94605459T>GCA374106315FBP1c.983A>C (n.983A>C)
c.823A>C (p.Lys275Gln)
c.628A>C (p.Lys210Gln)
c.577A>C (p.Lys193Gln)
9g.94605460T>ACA466099573FBP1c.982A>T (n.982A>T)
c.822A>T (p.Gly274=)
c.627A>T (p.Gly209=)
c.576A>T (p.Gly192=)
9g.94605460T>CCA466099572FBP1c.982A>G (n.982A>G)
c.822A>G (p.Gly274=)
c.627A>G (p.Gly209=)
c.576A>G (p.Gly192=)
9g.94605460T>GCA466099571FBP1c.982A>C (n.982A>C)
c.822A>C (p.Gly274=)
c.627A>C (p.Gly209=)
c.576A>C (p.Gly192=)
9g.94605461C>ACA374106316FBP1c.981G>T (n.981G>T)
c.821G>T (p.Gly274Val)
c.626G>T (p.Gly209Val)
c.575G>T (p.Gly192Val)
9g.94605461C>GCA374106317FBP1c.981G>C (n.981G>C)
c.821G>C (p.Gly274Ala)
c.626G>C (p.Gly209Ala)
c.575G>C (p.Gly192Ala)
 gnomAD v4
9g.94605461C>TCA374106318FBP1c.981G>A (n.981G>A)
c.821G>A (p.Gly274Glu)
c.626G>A (p.Gly209Glu)
c.575G>A (p.Gly192Glu)
9g.94605462C>ACA374106319FBP1c.980G>T (n.980G>T)
c.820G>T (p.Gly274Ter)
c.625G>T (p.Gly209Ter)
c.574G>T (p.Gly192Ter)
9g.94605462C>GCA374106320FBP1c.980G>C (n.980G>C)
c.820G>C (p.Gly274Arg)
c.625G>C (p.Gly209Arg)
c.574G>C (p.Gly192Arg)
9g.94605462C>TCA374106321FBP1c.980G>A (n.980G>A)
c.820G>A (p.Gly274Arg)
c.625G>A (p.Gly209Arg)
c.574G>A (p.Gly192Arg)
9g.94605463A>CCA374106322FBP1c.979T>G (n.979T>G)
c.819T>G (p.Asn273Lys)
c.624T>G (p.Asn208Lys)
c.573T>G (p.Asn191Lys)
9g.94605463A>GCA466099581FBP1c.979T>C (n.979T>C)
c.819T>C (p.Asn273=)
c.624T>C (p.Asn208=)
c.573T>C (p.Asn191=)
9g.94605463A>TCA374106323FBP1c.979T>A (n.979T>A)
c.819T>A (p.Asn273Lys)
c.624T>A (p.Asn208Lys)
c.573T>A (p.Asn191Lys)
9g.94605464T>ACA374106325FBP1c.978A>T (n.978A>T)
c.818A>T (p.Asn273Ile)
c.623A>T (p.Asn208Ile)
c.572A>T (p.Asn191Ile)
9g.94605464T>CCA5136118FBP1c.978A>G (n.978A>G)
c.818A>G (p.Asn273Ser)
c.623A>G (p.Asn208Ser)
c.572A>G (p.Asn191Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605464T>GCA374106324FBP1c.978A>C (n.978A>C)
c.818A>C (p.Asn273Thr)
c.623A>C (p.Asn208Thr)
c.572A>C (p.Asn191Thr)
9g.94605464T=CA1865226017FBP1c.978A= (n.978A=)
c.818A= (p.Asn273=)
c.623A= (p.Asn208=)
c.572A= (p.Asn191=)
9g.94605465T>ACA374106326FBP1c.977A>T (n.977A>T)
c.817A>T (p.Asn273Tyr)
c.622A>T (p.Asn208Tyr)
c.571A>T (p.Asn191Tyr)
9g.94605465T>CCA374106327FBP1c.977A>G (n.977A>G)
c.817A>G (p.Asn273Asp)
c.622A>G (p.Asn208Asp)
c.571A>G (p.Asn191Asp)
 dbSNP gnomAD v3 gnomAD v4
9g.94605465T>GCA374106328FBP1c.977A>C (n.977A>C)
c.817A>C (p.Asn273His)
c.622A>C (p.Asn208His)
c.571A>C (p.Asn191His)
9g.94605465T=CA1865226018FBP1c.977A= (n.977A=)
c.817A= (p.Asn273=)
c.622A= (p.Asn208=)
c.571A= (p.Asn191=)
9g.94605465_94605466delinsTGCA1865226019FBP1c.976_977delinsCA (n.976_977delinsCA)
c.816_817delinsCA (p.Pro272=)
c.621_622delinsCA (p.Pro207=)
c.570_571delinsCA (p.Pro190=)
9g.94605466G>ACA466099584FBP1c.976C>T (n.976C>T)
c.816C>T (p.Pro272=)
c.621C>T (p.Pro207=)
c.570C>T (p.Pro190=)
 dbSNP
9g.94605466G>CCA466099585FBP1c.976C>G (n.976C>G)
c.816C>G (p.Pro272=)
c.621C>G (p.Pro207=)
c.570C>G (p.Pro190=)
9g.94605466G=CA1865226020FBP1c.976C= (n.976C=)
c.816C= (p.Pro272=)
c.621C= (p.Pro207=)
c.570C= (p.Pro190=)
9g.94605466G>TCA466099587FBP1c.976C>A (n.976C>A)
c.816C>A (p.Pro272=)
c.621C>A (p.Pro207=)
c.570C>A (p.Pro190=)
 gnomAD v4
9g.94605469delCA918511043FBP1c.976del (n.976del)
c.816del (p.Asn273MetfsTer4)
c.621del (p.Asn208MetfsTer4)
c.570del (p.Asn191MetfsTer4)
 dbSNP
9g.94605467G>ACA374106329FBP1c.975C>T (n.975C>T)
c.815C>T (p.Pro272Leu)
c.620C>T (p.Pro207Leu)
c.569C>T (p.Pro190Leu)
9g.94605467G>CCA374106330FBP1c.975C>G (n.975C>G)
c.815C>G (p.Pro272Arg)
c.620C>G (p.Pro207Arg)
c.569C>G (p.Pro190Arg)
9g.94605467G>TCA374106331FBP1c.975C>A (n.975C>A)
c.815C>A (p.Pro272His)
c.620C>A (p.Pro207His)
c.569C>A (p.Pro190His)
9g.94605468G>ACA374106332FBP1c.974C>T (n.974C>T)
c.814C>T (p.Pro272Ser)
c.619C>T (p.Pro207Ser)
c.568C>T (p.Pro190Ser)
 COSMIC
9g.94605468G>CCA374106333FBP1c.974C>G (n.974C>G)
c.814C>G (p.Pro272Ala)
c.619C>G (p.Pro207Ala)
c.568C>G (p.Pro190Ala)
 gnomAD v4
9g.94605468G>TCA374106334FBP1c.974C>A (n.974C>A)
c.814C>A (p.Pro272Thr)
c.619C>A (p.Pro207Thr)
c.568C>A (p.Pro190Thr)
9g.94605469G>ACA466099596FBP1c.973C>T (n.973C>T)
c.813C>T (p.Ser271=)
c.618C>T (p.Ser206=)
c.567C>T (p.Ser189=)
 dbSNP gnomAD v3 gnomAD v4
9g.94605469G>CCA374106335FBP1c.973C>G (n.973C>G)
c.813C>G (p.Ser271Arg)
c.618C>G (p.Ser206Arg)
c.567C>G (p.Ser189Arg)
9g.94605469G=CA1865226021FBP1c.973C= (n.973C=)
c.813C= (p.Ser271=)
c.618C= (p.Ser206=)
c.567C= (p.Ser189=)
9g.94605469G>TCA374106336FBP1c.973C>A (n.973C>A)
c.813C>A (p.Ser271Arg)
c.618C>A (p.Ser206Arg)
c.567C>A (p.Ser189Arg)
9g.94605470C>ACA374106337FBP1c.972G>T (n.972G>T)
c.812G>T (p.Ser271Ile)
c.617G>T (p.Ser206Ile)
c.566G>T (p.Ser189Ile)
9g.94605470C>GCA374106338FBP1c.972G>C (n.972G>C)
c.812G>C (p.Ser271Thr)
c.617G>C (p.Ser206Thr)
c.566G>C (p.Ser189Thr)
9g.94605470C>TCA374106339FBP1c.972G>A (n.972G>A)
c.812G>A (p.Ser271Asn)
c.617G>A (p.Ser206Asn)
c.566G>A (p.Ser189Asn)
9g.94605471T>ACA5136119FBP1c.971A>T (n.971A>T)
c.811A>T (p.Ser271Cys)
c.616A>T (p.Ser206Cys)
c.565A>T (p.Ser189Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605471T>CCA374106340FBP1c.971A>G (n.971A>G)
c.811A>G (p.Ser271Gly)
c.616A>G (p.Ser206Gly)
c.565A>G (p.Ser189Gly)
9g.94605471T>GCA5136120FBP1c.971A>C (n.971A>C)
c.811A>C (p.Ser271Arg)
c.616A>C (p.Ser206Arg)
c.565A>C (p.Ser189Arg)
 dbSNP ExAC gnomAD v2
9g.94605471T=CA1865226022FBP1c.971A= (n.971A=)
c.811A= (p.Ser271=)
c.616A= (p.Ser206=)
c.565A= (p.Ser189=)
9g.94605472C>ACA374106341FBP1c.970G>T (n.970G>T)
c.810G>T (p.Lys270Asn)
c.615G>T (p.Lys205Asn)
c.564G>T (p.Lys188Asn)
9g.94605472C=CA1865226023FBP1c.970G= (n.970G=)
c.810G= (p.Lys270=)
c.615G= (p.Lys205=)
c.564G= (p.Lys188=)
9g.94605472C>GCA5136121FBP1c.970G>C (n.970G>C)
c.810G>C (p.Lys270Asn)
c.615G>C (p.Lys205Asn)
c.564G>C (p.Lys188Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605472C>TCA466099614FBP1c.970G>A (n.970G>A)
c.810G>A (p.Lys270=)
c.615G>A (p.Lys205=)
c.564G>A (p.Lys188=)
9g.94605473T>ACA374106342FBP1c.969A>T (n.969A>T)
c.809A>T (p.Lys270Met)
c.614A>T (p.Lys205Met)
c.563A>T (p.Lys188Met)
9g.94605473T>CCA5136122FBP1c.969A>G (n.969A>G)
c.809A>G (p.Lys270Arg)
c.614A>G (p.Lys205Arg)
c.563A>G (p.Lys188Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605473T>GCA374106343FBP1c.969A>C (n.969A>C)
c.809A>C (p.Lys270Thr)
c.614A>C (p.Lys205Thr)
c.563A>C (p.Lys188Thr)
9g.94605473T=CA1865226024FBP1c.969A= (n.969A=)
c.809A= (p.Lys270=)
c.614A= (p.Lys205=)
c.563A= (p.Lys188=)
9g.94605474T>ACA374106344FBP1c.968A>T (n.968A>T)
c.808A>T (p.Lys270Ter)
c.613A>T (p.Lys205Ter)
c.562A>T (p.Lys188Ter)
9g.94605474T>CCA374106345FBP1c.968A>G (n.968A>G)
c.808A>G (p.Lys270Glu)
c.613A>G (p.Lys205Glu)
c.562A>G (p.Lys188Glu)
9g.94605474T>GCA374106346FBP1c.968A>C (n.968A>C)
c.808A>C (p.Lys270Gln)
c.613A>C (p.Lys205Gln)
c.562A>C (p.Lys188Gln)
9g.94605475delCA2695210721FBP1c.967del (n.967del)
c.807del (p.Lys270ArgfsTer7)
c.612del (p.Lys205ArgfsTer7)
c.561del (p.Lys188ArgfsTer7)
9g.94605475C>ACA374106347FBP1c.967G>T (n.967G>T)
c.807G>T (p.Lys269Asn)
c.612G>T (p.Lys204Asn)
c.561G>T (p.Lys187Asn)
9g.94605475C=CA1865226025FBP1c.967G= (n.967G=)
c.807G= (p.Lys269=)
c.612G= (p.Lys204=)
c.561G= (p.Lys187=)
9g.94605475C>GCA374106348FBP1c.967G>C (n.967G>C)
c.807G>C (p.Lys269Asn)
c.612G>C (p.Lys204Asn)
c.561G>C (p.Lys187Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.94605475C>TCA466099625FBP1c.967G>A (n.967G>A)
c.807G>A (p.Lys269=)
c.612G>A (p.Lys204=)
c.561G>A (p.Lys187=)
 dbSNP gnomAD v2
9g.94605476T>ACA5136123FBP1c.966A>T (n.966A>T)
c.806A>T (p.Lys269Met)
c.611A>T (p.Lys204Met)
c.560A>T (p.Lys187Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605476T>CCA374106349FBP1c.966A>G (n.966A>G)
c.806A>G (p.Lys269Arg)
c.611A>G (p.Lys204Arg)
c.560A>G (p.Lys187Arg)
 gnomAD v4
9g.94605476T>GCA374106350FBP1c.966A>C (n.966A>C)
c.806A>C (p.Lys269Thr)
c.611A>C (p.Lys204Thr)
c.560A>C (p.Lys187Thr)
9g.94605476T=CA1865226026FBP1c.966A= (n.966A=)
c.806A= (p.Lys269=)
c.611A= (p.Lys204=)
c.560A= (p.Lys187=)
9g.94605477T>ACA374106353FBP1c.965A>T (n.965A>T)
c.805A>T (p.Lys269Ter)
c.610A>T (p.Lys204Ter)
c.559A>T (p.Lys187Ter)
 gnomAD v4
9g.94605477T>CCA374106351FBP1c.965A>G (n.965A>G)
c.805A>G (p.Lys269Glu)
c.610A>G (p.Lys204Glu)
c.559A>G (p.Lys187Glu)
9g.94605477T>GCA374106352FBP1c.965A>C (n.965A>C)
c.805A>C (p.Lys269Gln)
c.610A>C (p.Lys204Gln)
c.559A>C (p.Lys187Gln)
9g.94605478G>ACA466099633FBP1c.964C>T (n.964C>T)
c.804C>T (p.Asn268=)
c.609C>T (p.Asn203=)
c.558C>T (p.Asn186=)
9g.94605478G>CCA374106354FBP1c.964C>G (n.964C>G)
c.804C>G (p.Asn268Lys)
c.609C>G (p.Asn203Lys)
c.558C>G (p.Asn186Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.94605478G=CA1865226027FBP1c.964C= (n.964C=)
c.804C= (p.Asn268=)
c.609C= (p.Asn203=)
c.558C= (p.Asn186=)
9g.94605478G>TCA374106355FBP1c.964C>A (n.964C>A)
c.804C>A (p.Asn268Lys)
c.609C>A (p.Asn203Lys)
c.558C>A (p.Asn186Lys)
9g.94605479T>ACA374106356FBP1c.963A>T (n.963A>T)
c.803A>T (p.Asn268Ile)
c.608A>T (p.Asn203Ile)
c.557A>T (p.Asn186Ile)
9g.94605479T>CCA374106357FBP1c.963A>G (n.963A>G)
c.803A>G (p.Asn268Ser)
c.608A>G (p.Asn203Ser)
c.557A>G (p.Asn186Ser)
9g.94605479T>GCA374106358FBP1c.963A>C (n.963A>C)
c.803A>C (p.Asn268Thr)
c.608A>C (p.Asn203Thr)
c.557A>C (p.Asn186Thr)
9g.94605480T>ACA374106359FBP1c.962A>T (n.962A>T)
c.802A>T (p.Asn268Tyr)
c.607A>T (p.Asn203Tyr)
c.556A>T (p.Asn186Tyr)
9g.94605480T>CCA374106360FBP1c.962A>G (n.962A>G)
c.802A>G (p.Asn268Asp)
c.607A>G (p.Asn203Asp)
c.556A>G (p.Asn186Asp)
9g.94605480T>GCA374106361FBP1c.962A>C (n.962A>C)
c.802A>C (p.Asn268His)
c.607A>C (p.Asn203His)
c.556A>C (p.Asn186His)
9g.94605481A>CCA466099647FBP1c.961T>G (n.961T>G)
c.801T>G (p.Ala267=)
c.606T>G (p.Ala202=)
c.555T>G (p.Ala185=)
9g.94605481A>GCA466099649FBP1c.961T>C (n.961T>C)
c.801T>C (p.Ala267=)
c.606T>C (p.Ala202=)
c.555T>C (p.Ala185=)
 ClinVar
9g.94605481A>TCA466099646FBP1c.961T>A (n.961T>A)
c.801T>A (p.Ala267=)
c.606T>A (p.Ala202=)
c.555T>A (p.Ala185=)
9g.94605482G>ACA374106362FBP1c.960C>T (n.960C>T)
c.800C>T (p.Ala267Val)
c.605C>T (p.Ala202Val)
c.554C>T (p.Ala185Val)
9g.94605482G>CCA374106363FBP1c.960C>G (n.960C>G)
c.800C>G (p.Ala267Gly)
c.605C>G (p.Ala202Gly)
c.554C>G (p.Ala185Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.94605482G=CA1865226028FBP1c.960C= (n.960C=)
c.800C= (p.Ala267=)
c.605C= (p.Ala202=)
c.554C= (p.Ala185=)
9g.94605482G>TCA374106364FBP1c.960C>A (n.960C>A)
c.800C>A (p.Ala267Asp)
c.605C>A (p.Ala202Asp)
c.554C>A (p.Ala185Asp)
9g.94605483C>ACA374106365FBP1c.959G>T (n.959G>T)
c.799G>T (p.Ala267Ser)
c.604G>T (p.Ala202Ser)
c.553G>T (p.Ala185Ser)
9g.94605483C=CA1865226029FBP1c.959G= (n.959G=)
c.799G= (p.Ala267=)
c.604G= (p.Ala202=)
c.553G= (p.Ala185=)
9g.94605483C>GCA374106366FBP1c.959G>C (n.959G>C)
c.799G>C (p.Ala267Pro)
c.604G>C (p.Ala202Pro)
c.553G>C (p.Ala185Pro)
9g.94605483C>TCA5136124FBP1c.959G>A (n.959G>A)
c.799G>A (p.Ala267Thr)
c.604G>A (p.Ala202Thr)
c.553G>A (p.Ala185Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94605483_94605484delinsCGCA1865226030FBP1c.958_959delinsCG (n.958_959delinsCG)
c.798_799delinsCG (p.Pro266=)
c.603_604delinsCG (p.Pro201=)
c.552_553delinsCG (p.Pro184=)
9g.94605484G>ACA5136125FBP1c.958C>T (n.958C>T)
c.798C>T (p.Pro266=)
c.603C>T (p.Pro201=)
c.552C>T (p.Pro184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605484G>CCA466099660FBP1c.958C>G (n.958C>G)
c.798C>G (p.Pro266=)
c.603C>G (p.Pro201=)
c.552C>G (p.Pro184=)
 dbSNP gnomAD v3 gnomAD v4
9g.94605484G=CA1865226032FBP1c.958C= (n.958C=)
c.798C= (p.Pro266=)
c.603C= (p.Pro201=)
c.552C= (p.Pro184=)
9g.94605484G>TCA466099661FBP1c.958C>A (n.958C>A)
c.798C>A (p.Pro266=)
c.603C>A (p.Pro201=)
c.552C>A (p.Pro184=)
9g.94605487delCA1865226031FBP1c.958del (n.958del)
c.798del (p.Ala267LeufsTer10)
c.603del (p.Ala202LeufsTer10)
c.552del (p.Ala185LeufsTer10)
 dbSNP gnomAD v4
9g.94605485G>ACA374106368FBP1c.957C>T (n.957C>T)
c.797C>T (p.Pro266Leu)
c.602C>T (p.Pro201Leu)
c.551C>T (p.Pro184Leu)
 COSMIC
9g.94605485G>CCA374106367FBP1c.957C>G (n.957C>G)
c.797C>G (p.Pro266Arg)
c.602C>G (p.Pro201Arg)
c.551C>G (p.Pro184Arg)
9g.94605485G>TCA374106369FBP1c.957C>A (n.957C>A)
c.797C>A (p.Pro266His)
c.602C>A (p.Pro201His)
c.551C>A (p.Pro184His)
9g.94605486G>ACA374106370FBP1c.956C>T (n.956C>T)
c.796C>T (p.Pro266Ser)
c.601C>T (p.Pro201Ser)
c.550C>T (p.Pro184Ser)
 gnomAD v4
9g.94605486G>CCA374106371FBP1c.956C>G (n.956C>G)
c.796C>G (p.Pro266Ala)
c.601C>G (p.Pro201Ala)
c.550C>G (p.Pro184Ala)
9g.94605486G>TCA374106372FBP1c.956C>A (n.956C>A)
c.796C>A (p.Pro266Thr)
c.601C>A (p.Pro201Thr)
c.550C>A (p.Pro184Thr)
9g.94605487G>ACA466099675FBP1c.955C>T (n.955C>T)
c.795C>T (p.Tyr265=)
c.600C>T (p.Tyr200=)
c.549C>T (p.Tyr183=)
9g.94605487G>CCA374106373FBP1c.955C>G (n.955C>G)
c.795C>G (p.Tyr265Ter)
c.600C>G (p.Tyr200Ter)
c.549C>G (p.Tyr183Ter)
9g.94605487G>TCA374106374FBP1c.955C>A (n.955C>A)
c.795C>A (p.Tyr265Ter)
c.600C>A (p.Tyr200Ter)
c.549C>A (p.Tyr183Ter)
9g.94605488T>ACA374106375FBP1c.954A>T (n.954A>T)
c.794A>T (p.Tyr265Phe)
c.599A>T (p.Tyr200Phe)
c.548A>T (p.Tyr183Phe)
9g.94605488T>CCA5136126FBP1c.954A>G (n.954A>G)
c.794A>G (p.Tyr265Cys)
c.599A>G (p.Tyr200Cys)
c.548A>G (p.Tyr183Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605488T>GCA374106376FBP1c.954A>C (n.954A>C)
c.794A>C (p.Tyr265Ser)
c.599A>C (p.Tyr200Ser)
c.548A>C (p.Tyr183Ser)
9g.94605488T=CA1865226033FBP1c.954A= (n.954A=)
c.794A= (p.Tyr265=)
c.599A= (p.Tyr200=)
c.548A= (p.Tyr183=)
9g.94605489A>CCA374106377FBP1c.953T>G (n.953T>G)
c.793T>G (p.Tyr265Asp)
c.598T>G (p.Tyr200Asp)
c.547T>G (p.Tyr183Asp)
9g.94605489A>GCA374106378FBP1c.953T>C (n.953T>C)
c.793T>C (p.Tyr265His)
c.598T>C (p.Tyr200His)
c.547T>C (p.Tyr183His)
9g.94605489A>TCA374106379FBP1c.953T>A (n.953T>A)
c.793T>A (p.Tyr265Asn)
c.598T>A (p.Tyr200Asn)
c.547T>A (p.Tyr183Asn)
9g.94605490C>ACA466099683FBP1c.952G>T (n.952G>T)
c.792G>T (p.Leu264=)
c.597G>T (p.Leu199=)
c.546G>T (p.Leu182=)
9g.94605490C>GCA466099685FBP1c.952G>C (n.952G>C)
c.792G>C (p.Leu264=)
c.597G>C (p.Leu199=)
c.546G>C (p.Leu182=)
9g.94605490C>TCA466099686FBP1c.952G>A (n.952G>A)
c.792G>A (p.Leu264=)
c.597G>A (p.Leu199=)
c.546G>A (p.Leu182=)
9g.94605491A>CCA374106380FBP1c.951T>G (n.951T>G)
c.791T>G (p.Leu264Arg)
c.596T>G (p.Leu199Arg)
c.545T>G (p.Leu182Arg)
9g.94605491A>GCA374106381FBP1c.951T>C (n.951T>C)
c.791T>C (p.Leu264Pro)
c.596T>C (p.Leu199Pro)
c.545T>C (p.Leu182Pro)
9g.94605491A>TCA374106382FBP1c.951T>A (n.951T>A)
c.791T>A (p.Leu264Gln)
c.596T>A (p.Leu199Gln)
c.545T>A (p.Leu182Gln)
9g.94605492G>ACA466099688FBP1c.950C>T (n.950C>T)
c.790C>T (p.Leu264=)
c.595C>T (p.Leu199=)
c.544C>T (p.Leu182=)
 COSMIC
9g.94605492G>CCA374106383FBP1c.950C>G (n.950C>G)
c.790C>G (p.Leu264Val)
c.595C>G (p.Leu199Val)
c.544C>G (p.Leu182Val)
9g.94605492G>TCA374106384FBP1c.950C>A (n.950C>A)
c.790C>A (p.Leu264Met)
c.595C>A (p.Leu199Met)
c.544C>A (p.Leu182Met)
9g.94605493A>CCA374106385FBP1c.949T>G (n.949T>G)
c.789T>G (p.Phe263Leu)
c.594T>G (p.Phe198Leu)
c.543T>G (p.Phe181Leu)
9g.94605493A>GCA466099692FBP1c.949T>C (n.949T>C)
c.789T>C (p.Phe263=)
c.594T>C (p.Phe198=)
c.543T>C (p.Phe181=)
9g.94605493A>TCA374106386FBP1c.949T>A (n.949T>A)
c.789T>A (p.Phe263Leu)
c.594T>A (p.Phe198Leu)
c.543T>A (p.Phe181Leu)
9g.94605494A>CCA374106387FBP1c.948T>G (n.948T>G)
c.788T>G (p.Phe263Cys)
c.593T>G (p.Phe198Cys)
c.542T>G (p.Phe181Cys)
9g.94605494A>GCA374106388FBP1c.948T>C (n.948T>C)
c.788T>C (p.Phe263Ser)
c.593T>C (p.Phe198Ser)
c.542T>C (p.Phe181Ser)
9g.94605494A>TCA374106389FBP1c.948T>A (n.948T>A)
c.788T>A (p.Phe263Tyr)
c.593T>A (p.Phe198Tyr)
c.542T>A (p.Phe181Tyr)
9g.94605495A=CA1865226034FBP1c.947T= (n.947T=)
c.787T= (p.Phe263=)
c.592T= (p.Phe198=)
c.541T= (p.Phe181=)
9g.94605495A>CCA374106390FBP1c.947T>G (n.947T>G)
c.787T>G (p.Phe263Val)
c.592T>G (p.Phe198Val)
c.541T>G (p.Phe181Val)
9g.94605495A>GCA374106391FBP1c.947T>C (n.947T>C)
c.787T>C (p.Phe263Leu)
c.592T>C (p.Phe198Leu)
c.541T>C (p.Phe181Leu)
9g.94605495A>TCA374106392FBP1c.947T>A (n.947T>A)
c.787T>A (p.Phe263Ile)
c.592T>A (p.Phe198Ile)
c.541T>A (p.Phe181Ile)
 dbSNP gnomAD v2 gnomAD v4
9g.94605496T>ACA466099706FBP1c.946A>T (n.946A>T)
c.786A>T (p.Ile262=)
c.591A>T (p.Ile197=)
c.540A>T (p.Ile180=)
9g.94605496T>CCA374106393FBP1c.946A>G (n.946A>G)
c.786A>G (p.Ile262Met)
c.591A>G (p.Ile197Met)
c.540A>G (p.Ile180Met)
9g.94605496T>GCA466099707FBP1c.946A>C (n.946A>C)
c.786A>C (p.Ile262=)
c.591A>C (p.Ile197=)
c.540A>C (p.Ile180=)
9g.94605497A>CCA374106394FBP1c.945T>G (n.945T>G)
c.785T>G (p.Ile262Arg)
c.590T>G (p.Ile197Arg)
c.539T>G (p.Ile180Arg)
9g.94605497A>GCA374106395FBP1c.945T>C (n.945T>C)
c.785T>C (p.Ile262Thr)
c.590T>C (p.Ile197Thr)
c.539T>C (p.Ile180Thr)
9g.94605497A>TCA374106396FBP1c.945T>A (n.945T>A)
c.785T>A (p.Ile262Lys)
c.590T>A (p.Ile197Lys)
c.539T>A (p.Ile180Lys)
9g.94605498T>ACA374106397FBP1c.944A>T (n.944A>T)
c.784A>T (p.Ile262Leu)
c.589A>T (p.Ile197Leu)
c.538A>T (p.Ile180Leu)
9g.94605498T>CCA374106399FBP1c.944A>G (n.944A>G)
c.784A>G (p.Ile262Val)
c.589A>G (p.Ile197Val)
c.538A>G (p.Ile180Val)
9g.94605498T>GCA374106398FBP1c.944A>C (n.944A>C)
c.784A>C (p.Ile262Leu)
c.589A>C (p.Ile197Leu)
c.538A>C (p.Ile180Leu)
9g.94605499C>ACA466099714FBP1c.943G>T (n.943G>T)
c.783G>T (p.Gly261=)
c.588G>T (p.Gly196=)
c.537G>T (p.Gly179=)
9g.94605499C=CA1865226035FBP1c.943G= (n.943G=)
c.783G= (p.Gly261=)
c.588G= (p.Gly196=)
c.537G= (p.Gly179=)
9g.94605499C>GCA466099716FBP1c.943G>C (n.943G>C)
c.783G>C (p.Gly261=)
c.588G>C (p.Gly196=)
c.537G>C (p.Gly179=)
9g.94605499C>TCA466099718FBP1c.943G>A (n.943G>A)
c.783G>A (p.Gly261=)
c.588G>A (p.Gly196=)
c.537G>A (p.Gly179=)
 dbSNP gnomAD v3 gnomAD v4
9g.94605500C>ACA374106400FBP1c.942G>T (n.942G>T)
c.782G>T (p.Gly261Val)
c.587G>T (p.Gly196Val)
c.536G>T (p.Gly179Val)
9g.94605500C>GCA374106401FBP1c.942G>C (n.942G>C)
c.782G>C (p.Gly261Ala)
c.587G>C (p.Gly196Ala)
c.536G>C (p.Gly179Ala)
9g.94605500C>TCA374106402FBP1c.942G>A (n.942G>A)
c.782G>A (p.Gly261Glu)
c.587G>A (p.Gly196Glu)
c.536G>A (p.Gly179Glu)
9g.94605501C>ACA374106403FBP1c.941G>T (n.941G>T)
c.781G>T (p.Gly261Trp)
c.586G>T (p.Gly196Trp)
c.535G>T (p.Gly179Trp)
9g.94605501C=CA1865226036FBP1c.941G= (n.941G=)
c.781G= (p.Gly261=)
c.586G= (p.Gly196=)
c.535G= (p.Gly179=)
9g.94605501C>GCA374106404FBP1c.941G>C (n.941G>C)
c.781G>C (p.Gly261Arg)
c.586G>C (p.Gly196Arg)
c.535G>C (p.Gly179Arg)
9g.94605501C>TCA374106405FBP1c.941G>A (n.941G>A)
c.781G>A (p.Gly261Arg)
c.586G>A (p.Gly196Arg)
c.535G>A (p.Gly179Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.94605502T>ACA466099728FBP1c.940A>T (n.940A>T)
c.780A>T (p.Gly260=)
c.585A>T (p.Gly195=)
c.534A>T (p.Gly178=)
9g.94605502T>CCA466099726FBP1c.940A>G (n.940A>G)
c.780A>G (p.Gly260=)
c.585A>G (p.Gly195=)
c.534A>G (p.Gly178=)
 gnomAD v4
9g.94605502T>GCA466099725FBP1c.940A>C (n.940A>C)
c.780A>C (p.Gly260=)
c.585A>C (p.Gly195=)
c.534A>C (p.Gly178=)
9g.94605502_94605503delinsTCCA1865226037FBP1c.939_940delinsGA (n.939_940delinsGA)
c.779_780delinsGA (p.Gly260=)
c.584_585delinsGA (p.Gly195=)
c.533_534delinsGA (p.Gly178=)
9g.94605503C>ACA374106406FBP1c.939G>T (n.939G>T)
c.779G>T (p.Gly260Val)
c.584G>T (p.Gly195Val)
c.533G>T (p.Gly178Val)
9g.94605503C>GCA374106407FBP1c.939G>C (n.939G>C)
c.779G>C (p.Gly260Ala)
c.584G>C (p.Gly195Ala)
c.533G>C (p.Gly178Ala)
9g.94605503C>TCA374106408FBP1c.939G>A (n.939G>A)
c.779G>A (p.Gly260Glu)
c.584G>A (p.Gly195Glu)
c.533G>A (p.Gly178Glu)
9g.94605504delCA658797224FBP1c.939del (n.939del)
c.779del (p.Gly260GlufsTer17)
c.584del (p.Gly195GlufsTer17)
c.533del (p.Gly178GlufsTer17)
 ClinVar dbSNP
9g.94605504C>ACA374106409FBP1c.938G>T (n.938G>T)
c.778G>T (p.Gly260Ter)
c.583G>T (p.Gly195Ter)
c.532G>T (p.Gly178Ter)
9g.94605504C=CA1865226038FBP1c.938G= (n.938G=)
c.778G= (p.Gly260=)
c.583G= (p.Gly195=)
c.532G= (p.Gly178=)
9g.94605504C>GCA374106410FBP1c.938G>C (n.938G>C)
c.778G>C (p.Gly260Arg)
c.583G>C (p.Gly195Arg)
c.532G>C (p.Gly178Arg)
9g.94605504C>TCA5136127FBP1c.938G>A (n.938G>A)
c.778G>A (p.Gly260Arg)
c.583G>A (p.Gly195Arg)
c.532G>A (p.Gly178Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605505G>ACA466099739FBP1c.937C>T (n.937C>T)
c.777C>T (p.Tyr259=)
c.582C>T (p.Tyr194=)
c.531C>T (p.Tyr177=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94605505G>CCA374106412FBP1c.937C>G (n.937C>G)
c.777C>G (p.Tyr259Ter)
c.582C>G (p.Tyr194Ter)
c.531C>G (p.Tyr177Ter)
9g.94605505G=CA1865226039FBP1c.937C= (n.937C=)
c.777C= (p.Tyr259=)
c.582C= (p.Tyr194=)
c.531C= (p.Tyr177=)
9g.94605505G>TCA374106411FBP1c.937C>A (n.937C>A)
c.777C>A (p.Tyr259Ter)
c.582C>A (p.Tyr194Ter)
c.531C>A (p.Tyr177Ter)
 gnomAD v4
9g.94605506T>ACA374106413FBP1c.936A>T (n.936A>T)
c.776A>T (p.Tyr259Phe)
c.581A>T (p.Tyr194Phe)
c.530A>T (p.Tyr177Phe)
9g.94605506T>CCA374106414FBP1c.936A>G (n.936A>G)
c.776A>G (p.Tyr259Cys)
c.581A>G (p.Tyr194Cys)
c.530A>G (p.Tyr177Cys)
9g.94605506T>GCA374106415FBP1c.936A>C (n.936A>C)
c.776A>C (p.Tyr259Ser)
c.581A>C (p.Tyr194Ser)
c.530A>C (p.Tyr177Ser)
9g.94605507A=CA1865226040FBP1c.935T= (n.935T=)
c.775T= (p.Tyr259=)
c.580T= (p.Tyr194=)
c.529T= (p.Tyr177=)
9g.94605507A>CCA374106416FBP1c.935T>G (n.935T>G)
c.775T>G (p.Tyr259Asp)
c.580T>G (p.Tyr194Asp)
c.529T>G (p.Tyr177Asp)
9g.94605507A>GCA374106417FBP1c.935T>C (n.935T>C)
c.775T>C (p.Tyr259His)
c.580T>C (p.Tyr194His)
c.529T>C (p.Tyr177His)
 dbSNP
9g.94605507A>TCA374106418FBP1c.935T>A (n.935T>A)
c.775T>A (p.Tyr259Asn)
c.580T>A (p.Tyr194Asn)
c.529T>A (p.Tyr177Asn)
9g.94605508G>ACA466099746FBP1c.934C>T (n.934C>T)
c.774C>T (p.Val258=)
c.579C>T (p.Val193=)
c.528C>T (p.Val176=)
9g.94605508G>CCA466099747FBP1c.934C>G (n.934C>G)
c.774C>G (p.Val258=)
c.579C>G (p.Val193=)
c.528C>G (p.Val176=)
9g.94605508G>TCA466099748FBP1c.934C>A (n.934C>A)
c.774C>A (p.Val258=)
c.579C>A (p.Val193=)
c.528C>A (p.Val176=)
9g.94605509A>CCA374106419FBP1c.933T>G (n.933T>G)
c.773T>G (p.Val258Gly)
c.578T>G (p.Val193Gly)
c.527T>G (p.Val176Gly)
9g.94605509A>GCA374106420FBP1c.933T>C (n.933T>C)
c.773T>C (p.Val258Ala)
c.578T>C (p.Val193Ala)
c.527T>C (p.Val176Ala)
9g.94605509A>TCA374106421FBP1c.933T>A (n.933T>A)
c.773T>A (p.Val258Asp)
c.578T>A (p.Val193Asp)
c.527T>A (p.Val176Asp)
9g.94605510C>ACA374106422FBP1c.932G>T (n.932G>T)
c.772G>T (p.Val258Phe)
c.577G>T (p.Val193Phe)
c.526G>T (p.Val176Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94605510C=CA1865226041FBP1c.932G= (n.932G=)
c.772G= (p.Val258=)
c.577G= (p.Val193=)
c.526G= (p.Val176=)
9g.94605510C>GCA374106423FBP1c.932G>C (n.932G>C)
c.772G>C (p.Val258Leu)
c.577G>C (p.Val193Leu)
c.526G>C (p.Val176Leu)
9g.94605510C>TCA374106424FBP1c.932G>A (n.932G>A)
c.772G>A (p.Val258Ile)
c.577G>A (p.Val193Ile)
c.526G>A (p.Val176Ile)
9g.94605511C>ACA466099755FBP1c.931G>T (n.931G>T)
c.771G>T (p.Leu257=)
c.576G>T (p.Leu192=)
c.525G>T (p.Leu175=)
9g.94605511C>GCA466099757FBP1c.931G>C (n.931G>C)
c.771G>C (p.Leu257=)
c.576G>C (p.Leu192=)
c.525G>C (p.Leu175=)
9g.94605511C>TCA466099756FBP1c.931G>A (n.931G>A)
c.771G>A (p.Leu257=)
c.576G>A (p.Leu192=)
c.525G>A (p.Leu175=)
9g.94605512A=CA1865226042FBP1c.930T= (n.930T=)
c.770T= (p.Leu257=)
c.575T= (p.Leu192=)
c.524T= (p.Leu175=)
9g.94605512A>CCA374106426FBP1c.930T>G (n.930T>G)
c.770T>G (p.Leu257Arg)
c.575T>G (p.Leu192Arg)
c.524T>G (p.Leu175Arg)
9g.94605512A>GCA374106427FBP1c.930T>C (n.930T>C)
c.770T>C (p.Leu257Pro)
c.575T>C (p.Leu192Pro)
c.524T>C (p.Leu175Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94605512A>TCA374106425FBP1c.930T>A (n.930T>A)
c.770T>A (p.Leu257Gln)
c.575T>A (p.Leu192Gln)
c.524T>A (p.Leu175Gln)
 dbSNP
9g.94605513G>ACA466099761FBP1c.929C>T (n.929C>T)
c.769C>T (p.Leu257=)
c.574C>T (p.Leu192=)
c.523C>T (p.Leu175=)
9g.94605513G>CCA374106429FBP1c.929C>G (n.929C>G)
c.769C>G (p.Leu257Val)
c.574C>G (p.Leu192Val)
c.523C>G (p.Leu175Val)
9g.94605513G>TCA374106428FBP1c.929C>A (n.929C>A)
c.769C>A (p.Leu257Met)
c.574C>A (p.Leu192Met)
c.523C>A (p.Leu175Met)
9g.94605514A>CCA466099763FBP1c.928T>G (n.928T>G)
c.768T>G (p.Thr256=)
c.573T>G (p.Thr191=)
c.522T>G (p.Thr174=)
9g.94605514A>GCA466099764FBP1c.928T>C (n.928T>C)
c.768T>C (p.Thr256=)
c.573T>C (p.Thr191=)
c.522T>C (p.Thr174=)
9g.94605514A>TCA466099765FBP1c.928T>A (n.928T>A)
c.768T>A (p.Thr256=)
c.573T>A (p.Thr191=)
c.522T>A (p.Thr174=)
9g.94605515G>ACA374106430FBP1c.927C>T (n.927C>T)
c.767C>T (p.Thr256Ile)
c.572C>T (p.Thr191Ile)
c.521C>T (p.Thr174Ile)
 dbSNP gnomAD v2 gnomAD v4
9g.94605515G>CCA374106431FBP1c.927C>G (n.927C>G)
c.767C>G (p.Thr256Ser)
c.572C>G (p.Thr191Ser)
c.521C>G (p.Thr174Ser)
9g.94605515G=CA1865226043FBP1c.927C= (n.927C=)
c.767C= (p.Thr256=)
c.572C= (p.Thr191=)
c.521C= (p.Thr174=)
9g.94605515G>TCA374106432FBP1c.927C>A (n.927C>A)
c.767C>A (p.Thr256Asn)
c.572C>A (p.Thr191Asn)
c.521C>A (p.Thr174Asn)
9g.94605516T>ACA374106433FBP1c.926A>T (n.926A>T)
c.766A>T (p.Thr256Ser)
c.571A>T (p.Thr191Ser)
c.520A>T (p.Thr174Ser)
 gnomAD v4
9g.94605516T>CCA374106434FBP1c.926A>G (n.926A>G)
c.766A>G (p.Thr256Ala)
c.571A>G (p.Thr191Ala)
c.520A>G (p.Thr174Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.94605516T>GCA374106435FBP1c.926A>C (n.926A>C)
c.766A>C (p.Thr256Pro)
c.571A>C (p.Thr191Pro)
c.520A>C (p.Thr174Pro)
 gnomAD v4
9g.94605516T=CA1865226044FBP1c.926A= (n.926A=)
c.766A= (p.Thr256=)
c.571A= (p.Thr191=)
c.520A= (p.Thr174=)
9g.94605517G>ACA5136128FBP1c.925C>T (n.925C>T)
c.765C>T (p.Arg255=)
c.570C>T (p.Arg190=)
c.519C>T (p.Arg173=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605517G>CCA466099772FBP1c.925C>G (n.925C>G)
c.765C>G (p.Arg255=)
c.570C>G (p.Arg190=)
c.519C>G (p.Arg173=)
9g.94605517G=CA1865226045FBP1c.925C= (n.925C=)
c.765C= (p.Arg255=)
c.570C= (p.Arg190=)
c.519C= (p.Arg173=)
9g.94605517G>TCA466099773FBP1c.925C>A (n.925C>A)
c.765C>A (p.Arg255=)
c.570C>A (p.Arg190=)
c.519C>A (p.Arg173=)
9g.94605518C>ACA5136129FBP1c.924G>T (n.924G>T)
c.764G>T (p.Arg255Leu)
c.569G>T (p.Arg190Leu)
c.518G>T (p.Arg173Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605518C=CA1865226046FBP1c.924G= (n.924G=)
c.764G= (p.Arg255=)
c.569G= (p.Arg190=)
c.518G= (p.Arg173=)
9g.94605518C>GCA374106436FBP1c.924G>C (n.924G>C)
c.764G>C (p.Arg255Pro)
c.569G>C (p.Arg190Pro)
c.518G>C (p.Arg173Pro)
9g.94605518C>TCA374106437FBP1c.924G>A (n.924G>A)
c.764G>A (p.Arg255His)
c.569G>A (p.Arg190His)
c.518G>A (p.Arg173His)
 dbSNP gnomAD v4
9g.94605519G>ACA374106438FBP1c.923C>T (n.923C>T)
c.763C>T (p.Arg255Cys)
c.568C>T (p.Arg190Cys)
c.517C>T (p.Arg173Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94605519G>CCA374106439FBP1c.923C>G (n.923C>G)
c.763C>G (p.Arg255Gly)
c.568C>G (p.Arg190Gly)
c.517C>G (p.Arg173Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.94605519G=CA1865226047FBP1c.923C= (n.923C=)
c.763C= (p.Arg255=)
c.568C= (p.Arg190=)
c.517C= (p.Arg173=)
9g.94605519G>TCA196552456FBP1c.923C>A (n.923C>A)
c.763C>A (p.Arg255Ser)
c.568C>A (p.Arg190Ser)
c.517C>A (p.Arg173Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.94605520A>CCA374106440FBP1c.922T>G (n.922T>G)
c.762T>G (p.His254Gln)
c.567T>G (p.His189Gln)
c.516T>G (p.His172Gln)
9g.94605520A>GCA466099778FBP1c.922T>C (n.922T>C)
c.762T>C (p.His254=)
c.567T>C (p.His189=)
c.516T>C (p.His172=)
 ClinVar
9g.94605520A>TCA374106441FBP1c.922T>A (n.922T>A)
c.762T>A (p.His254Gln)
c.567T>A (p.His189Gln)
c.516T>A (p.His172Gln)
9g.94605521T>ACA374106442FBP1c.921A>T (n.921A>T)
c.761A>T (p.His254Leu)
c.566A>T (p.His189Leu)
c.515A>T (p.His172Leu)
9g.94605521T>CCA374106443FBP1c.921A>G (n.921A>G)
c.761A>G (p.His254Arg)
c.566A>G (p.His189Arg)
c.515A>G (p.His172Arg)
 gnomAD v4
9g.94605521T>GCA374106444FBP1c.921A>C (n.921A>C)
c.761A>C (p.His254Pro)
c.566A>C (p.His189Pro)
c.515A>C (p.His172Pro)
9g.94605522G>ACA5136130FBP1c.920C>T (n.920C>T)
c.760C>T (p.His254Tyr)
c.565C>T (p.His189Tyr)
c.514C>T (p.His172Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605522G>CCA374106445FBP1c.920C>G (n.920C>G)
c.760C>G (p.His254Asp)
c.565C>G (p.His189Asp)
c.514C>G (p.His172Asp)
9g.94605522G=CA1865226048FBP1c.920C= (n.920C=)
c.760C= (p.His254=)
c.565C= (p.His189=)
c.514C= (p.His172=)
9g.94605522G>TCA374106446FBP1c.920C>A (n.920C>A)
c.760C>A (p.His254Asn)
c.565C>A (p.His189Asn)
c.514C>A (p.His172Asn)
9g.94605523A>CCA466099785FBP1c.919T>G (n.919T>G)
c.759T>G (p.Val253=)
c.564T>G (p.Val188=)
c.513T>G (p.Val171=)
9g.94605523A>GCA466099786FBP1c.919T>C (n.919T>C)
c.759T>C (p.Val253=)
c.564T>C (p.Val188=)
c.513T>C (p.Val171=)
9g.94605523A>TCA466099787FBP1c.919T>A (n.919T>A)
c.759T>A (p.Val253=)
c.564T>A (p.Val188=)
c.513T>A (p.Val171=)
9g.94605524A>CCA374106447FBP1c.918T>G (n.918T>G)
c.758T>G (p.Val253Gly)
c.563T>G (p.Val188Gly)
c.512T>G (p.Val171Gly)
9g.94605524A>GCA374106448FBP1c.918T>C (n.918T>C)
c.758T>C (p.Val253Ala)
c.563T>C (p.Val188Ala)
c.512T>C (p.Val171Ala)
9g.94605524A>TCA374106449FBP1c.918T>A (n.918T>A)
c.758T>A (p.Val253Asp)
c.563T>A (p.Val188Asp)
c.512T>A (p.Val171Asp)
9g.94605525C>ACA374106450FBP1c.917G>T (n.917G>T)
c.757G>T (p.Val253Phe)
c.562G>T (p.Val188Phe)
c.511G>T (p.Val171Phe)
9g.94605525C=CA1865226049FBP1c.917G= (n.917G=)
c.757G= (p.Val253=)
c.562G= (p.Val188=)
c.511G= (p.Val171=)
9g.94605525C>GCA374106451FBP1c.917G>C (n.917G>C)
c.757G>C (p.Val253Leu)
c.562G>C (p.Val188Leu)
c.511G>C (p.Val171Leu)
9g.94605525C>TCA5136131FBP1c.917G>A (n.917G>A)
c.757G>A (p.Val253Ile)
c.562G>A (p.Val188Ile)
c.511G>A (p.Val171Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605526A=CA1865226050FBP1c.916T= (n.916T=)
c.756T= (p.Asp252=)
c.561T= (p.Asp187=)
c.510T= (p.Asp170=)
9g.94605526A>CCA374106453FBP1c.916T>G (n.916T>G)
c.756T>G (p.Asp252Glu)
c.561T>G (p.Asp187Glu)
c.510T>G (p.Asp170Glu)
 gnomAD v4
9g.94605526A>GCA5136132FBP1c.916T>C (n.916T>C)
c.756T>C (p.Asp252=)
c.561T>C (p.Asp187=)
c.510T>C (p.Asp170=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605526A>TCA374106452FBP1c.916T>A (n.916T>A)
c.756T>A (p.Asp252Glu)
c.561T>A (p.Asp187Glu)
c.510T>A (p.Asp170Glu)
9g.94605527T>ACA374106454FBP1c.915A>T (n.915A>T)
c.755A>T (p.Asp252Val)
c.560A>T (p.Asp187Val)
c.509A>T (p.Asp170Val)
9g.94605527T>CCA374106455FBP1c.915A>G (n.915A>G)
c.755A>G (p.Asp252Gly)
c.560A>G (p.Asp187Gly)
c.509A>G (p.Asp170Gly)
9g.94605527T>GCA374106456FBP1c.915A>C (n.915A>C)
c.755A>C (p.Asp252Ala)
c.560A>C (p.Asp187Ala)
c.509A>C (p.Asp170Ala)
9g.94605528C>ACA374106457FBP1c.914G>T (n.914G>T)
c.754G>T (p.Asp252Tyr)
c.559G>T (p.Asp187Tyr)
c.508G>T (p.Asp170Tyr)
9g.94605528C=CA1865226051FBP1c.914G= (n.914G=)
c.754G= (p.Asp252=)
c.559G= (p.Asp187=)
c.508G= (p.Asp170=)
9g.94605528C>GCA374106458FBP1c.914G>C (n.914G>C)
c.754G>C (p.Asp252His)
c.559G>C (p.Asp187His)
c.508G>C (p.Asp170His)
9g.94605528C>TCA374106459FBP1c.914G>A (n.914G>A)
c.754G>A (p.Asp252Asn)
c.559G>A (p.Asp187Asn)
c.508G>A (p.Asp170Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94605529A>CCA466099797FBP1c.913T>G (n.913T>G)
c.753T>G (p.Ala251=)
c.558T>G (p.Ala186=)
c.507T>G (p.Ala169=)
 COSMIC
9g.94605529A>GCA466099798FBP1c.913T>C (n.913T>C)
c.753T>C (p.Ala251=)
c.558T>C (p.Ala186=)
c.507T>C (p.Ala169=)
 gnomAD v4
9g.94605529A>TCA466099799FBP1c.913T>A (n.913T>A)
c.753T>A (p.Ala251=)
c.558T>A (p.Ala186=)
c.507T>A (p.Ala169=)
9g.94605530G>ACA374106460FBP1c.912C>T (n.912C>T)
c.752C>T (p.Ala251Val)
c.557C>T (p.Ala186Val)
c.506C>T (p.Ala169Val)
9g.94605530G>CCA374106461FBP1c.912C>G (n.912C>G)
c.752C>G (p.Ala251Gly)
c.557C>G (p.Ala186Gly)
c.506C>G (p.Ala169Gly)
9g.94605530G>TCA374106462FBP1c.912C>A (n.912C>A)
c.752C>A (p.Ala251Asp)
c.557C>A (p.Ala186Asp)
c.506C>A (p.Ala169Asp)
9g.94605530_94605533delinsGCCACA1865226052FBP1c.909_912delinsTGGC (n.909_912delinsTGGC)
c.749_752delinsTGGC (p.Val250=)
c.554_557delinsTGGC (p.Val185=)
c.503_506delinsTGGC (p.Val168=)
9g.94605531C>ACA374106463FBP1c.911G>T (n.911G>T)
c.751G>T (p.Ala251Ser)
c.556G>T (p.Ala186Ser)
c.505G>T (p.Ala169Ser)
9g.94605531C>GCA374106464FBP1c.911G>C (n.911G>C)
c.751G>C (p.Ala251Pro)
c.556G>C (p.Ala186Pro)
c.505G>C (p.Ala169Pro)
9g.94605531C>TCA374106465FBP1c.911G>A (n.911G>A)
c.751G>A (p.Ala251Thr)
c.556G>A (p.Ala186Thr)
c.505G>A (p.Ala169Thr)
 COSMIC
9g.94605534_94605536delCA589254550FBP1c.909_911del (n.909_911del)
c.749_751del (p.Val250del)
c.554_556del (p.Val185del)
c.503_505del (p.Val168del)
 dbSNP gnomAD v2 gnomAD v4
9g.94605532C>ACA466099800FBP1c.910G>T (n.910G>T)
c.750G>T (p.Val250=)
c.555G>T (p.Val185=)
c.504G>T (p.Val168=)
9g.94605532C>GCA466099802FBP1c.910G>C (n.910G>C)
c.750G>C (p.Val250=)
c.555G>C (p.Val185=)
c.504G>C (p.Val168=)
9g.94605532C>TCA466099803FBP1c.910G>A (n.910G>A)
c.750G>A (p.Val250=)
c.555G>A (p.Val185=)
c.504G>A (p.Val168=)
9g.94605533A>CCA374106467FBP1c.909T>G (n.909T>G)
c.749T>G (p.Val250Gly)
c.554T>G (p.Val185Gly)
c.503T>G (p.Val168Gly)
9g.94605533A>GCA374106468FBP1c.909T>C (n.909T>C)
c.749T>C (p.Val250Ala)
c.554T>C (p.Val185Ala)
c.503T>C (p.Val168Ala)
 gnomAD v4
9g.94605533A>TCA374106466FBP1c.909T>A (n.909T>A)
c.749T>A (p.Val250Glu)
c.554T>A (p.Val185Glu)
c.503T>A (p.Val168Glu)
9g.94605533_94605534delinsACCA1865226053FBP1c.908_909delinsGT (n.908_909delinsGT)
c.748_749delinsGT (p.Val250=)
c.553_554delinsGT (p.Val185=)
c.502_503delinsGT (p.Val168=)
9g.94605534C>ACA374106469FBP1c.908G>T (n.908G>T)
c.748G>T (p.Val250Leu)
c.553G>T (p.Val185Leu)
c.502G>T (p.Val168Leu)
9g.94605534C>GCA374106470FBP1c.908G>C (n.908G>C)
c.748G>C (p.Val250Leu)
c.553G>C (p.Val185Leu)
c.502G>C (p.Val168Leu)
9g.94605534C>TCA374106471FBP1c.908G>A (n.908G>A)
c.748G>A (p.Val250Met)
c.553G>A (p.Val185Met)
c.502G>A (p.Val168Met)
9g.94605535delCA5136133FBP1c.908del (n.908del)
c.748del (p.Val250TrpfsTer27)
c.553del (p.Val185TrpfsTer27)
c.502del (p.Val168TrpfsTer27)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605535C>ACA374106474FBP1c.907G>T (n.907G>T)
c.747G>T (p.Met249Ile)
c.552G>T (p.Met184Ile)
c.501G>T (p.Met167Ile)
9g.94605535C>GCA374106473FBP1c.907G>C (n.907G>C)
c.747G>C (p.Met249Ile)
c.552G>C (p.Met184Ile)
c.501G>C (p.Met167Ile)
 gnomAD v4
9g.94605535C>TCA374106472FBP1c.907G>A (n.907G>A)
c.747G>A (p.Met249Ile)
c.552G>A (p.Met184Ile)
c.501G>A (p.Met167Ile)
 dbSNP
9g.94605536A>CCA374106475FBP1c.906T>G (n.906T>G)
c.746T>G (p.Met249Arg)
c.551T>G (p.Met184Arg)
c.500T>G (p.Met167Arg)
9g.94605536A>GCA374106476FBP1c.906T>C (n.906T>C)
c.746T>C (p.Met249Thr)
c.551T>C (p.Met184Thr)
c.500T>C (p.Met167Thr)
9g.94605536A>TCA374106477FBP1c.906T>A (n.906T>A)
c.746T>A (p.Met249Lys)
c.551T>A (p.Met184Lys)
c.500T>A (p.Met167Lys)
9g.94605537T>ACA374106478FBP1c.905A>T (n.905A>T)
c.745A>T (p.Met249Leu)
c.550A>T (p.Met184Leu)
c.499A>T (p.Met167Leu)
9g.94605537T>CCA5136135FBP1c.905A>G (n.905A>G)
c.745A>G (p.Met249Val)
c.550A>G (p.Met184Val)
c.499A>G (p.Met167Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605537T>GCA5136134FBP1c.905A>C (n.905A>C)
c.745A>C (p.Met249Leu)
c.550A>C (p.Met184Leu)
c.499A>C (p.Met167Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605537T=CA1865226054FBP1c.905A= (n.905A=)
c.745A= (p.Met249=)
c.550A= (p.Met184=)
c.499A= (p.Met167=)
9g.94605538G>ACA466099810FBP1c.904C>T (n.904C>T)
c.744C>T (p.Ser248=)
c.549C>T (p.Ser183=)
c.498C>T (p.Ser166=)
 dbSNP
9g.94605538G>CCA466099811FBP1c.904C>G (n.904C>G)
c.744C>G (p.Ser248=)
c.549C>G (p.Ser183=)
c.498C>G (p.Ser166=)
9g.94605538G=CA1865226055FBP1c.904C= (n.904C=)
c.744C= (p.Ser248=)
c.549C= (p.Ser183=)
c.498C= (p.Ser166=)
9g.94605538G>TCA466099813FBP1c.904C>A (n.904C>A)
c.744C>A (p.Ser248=)
c.549C>A (p.Ser183=)
c.498C>A (p.Ser166=)
9g.94605539G>ACA374106481FBP1c.903C>T (n.903C>T)
c.743C>T (p.Ser248Phe)
c.548C>T (p.Ser183Phe)
c.497C>T (p.Ser166Phe)
9g.94605539G>CCA374106480FBP1c.903C>G (n.903C>G)
c.743C>G (p.Ser248Cys)
c.548C>G (p.Ser183Cys)
c.497C>G (p.Ser166Cys)
9g.94605539G>TCA374106479FBP1c.903C>A (n.903C>A)
c.743C>A (p.Ser248Tyr)
c.548C>A (p.Ser183Tyr)
c.497C>A (p.Ser166Tyr)
9g.94605540A>CCA374106482FBP1c.902T>G (n.902T>G)
c.742T>G (p.Ser248Ala)
c.547T>G (p.Ser183Ala)
c.496T>G (p.Ser166Ala)
9g.94605540A>GCA374106484FBP1c.902T>C (n.902T>C)
c.742T>C (p.Ser248Pro)
c.547T>C (p.Ser183Pro)
c.496T>C (p.Ser166Pro)
9g.94605540A>TCA374106483FBP1c.902T>A (n.902T>A)
c.742T>A (p.Ser248Thr)
c.547T>A (p.Ser183Thr)
c.496T>A (p.Ser166Thr)
9g.94605541G>ACA466099819FBP1c.901C>T (n.901C>T)
c.741C>T (p.Gly247=)
c.546C>T (p.Gly182=)
c.495C>T (p.Gly165=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94605541G>CCA466099822FBP1c.901C>G (n.901C>G)
c.741C>G (p.Gly247=)
c.546C>G (p.Gly182=)
c.495C>G (p.Gly165=)
9g.94605541G=CA1865226056FBP1c.901C= (n.901C=)
c.741C= (p.Gly247=)
c.546C= (p.Gly182=)
c.495C= (p.Gly165=)
9g.94605541G>TCA466099823FBP1c.901C>A (n.901C>A)
c.741C>A (p.Gly247=)
c.546C>A (p.Gly182=)
c.495C>A (p.Gly165=)
9g.94605542C>ACA374106485FBP1c.900G>T (n.900G>T)
c.740G>T (p.Gly247Val)
c.545G>T (p.Gly182Val)
c.494G>T (p.Gly165Val)
9g.94605542C>GCA374106486FBP1c.900G>C (n.900G>C)
c.740G>C (p.Gly247Ala)
c.545G>C (p.Gly182Ala)
c.494G>C (p.Gly165Ala)
9g.94605542C>TCA374106487FBP1c.900G>A (n.900G>A)
c.740G>A (p.Gly247Asp)
c.545G>A (p.Gly182Asp)
c.494G>A (p.Gly165Asp)
9g.94605544dupCA2739269402FBP1c.900dup (n.900dup)
c.740dup (p.Ser248LeufsTer5)
c.545dup (p.Ser183LeufsTer5)
c.494dup (p.Ser166LeufsTer5)
 ClinVar
9g.94605543C>ACA374106488FBP1c.899G>T (n.899G>T)
c.739G>T (p.Gly247Cys)
c.544G>T (p.Gly182Cys)
c.493G>T (p.Gly165Cys)
9g.94605543C>GCA374106489FBP1c.899G>C (n.899G>C)
c.739G>C (p.Gly247Arg)
c.544G>C (p.Gly182Arg)
c.493G>C (p.Gly165Arg)
9g.94605543C>TCA374106490FBP1c.899G>A (n.899G>A)
c.739G>A (p.Gly247Ser)
c.544G>A (p.Gly182Ser)
c.493G>A (p.Gly165Ser)
9g.94605544C>ACA466099828FBP1c.898G>T (n.898G>T)
c.738G>T (p.Val246=)
c.543G>T (p.Val181=)
c.492G>T (p.Val164=)
9g.94605544C>GCA466099829FBP1c.898G>C (n.898G>C)
c.738G>C (p.Val246=)
c.543G>C (p.Val181=)
c.492G>C (p.Val164=)
9g.94605544C>TCA466099830FBP1c.898G>A (n.898G>A)
c.738G>A (p.Val246=)
c.543G>A (p.Val181=)
c.492G>A (p.Val164=)
9g.94605544_94605551delinsTACTGAGCTCCATGCAGTCTCA2695210722FBP1c.891_898delinsAGACTGCATGGAGCTCAGTA (n.891_898delinsAGACTGCATGGAGCTCAGTA)
c.731_738delinsAGACTGCATGGAGCTCAGTA (p.Arg244_Tyr245delinsGlnThrAlaTrpSerSer)
c.536_543delinsAGACTGCATGGAGCTCAGTA (p.Arg179_Tyr180delinsGlnThrAlaTrpSerSer)
c.485_492delinsAGACTGCATGGAGCTCAGTA (p.Arg162_Tyr163delinsGlnThrAlaTrpSerSer)
9g.94605545A>CCA374106491FBP1c.897T>G (n.897T>G)
c.737T>G (p.Val246Gly)
c.542T>G (p.Val181Gly)
c.491T>G (p.Val164Gly)
9g.94605545A>GCA374106492FBP1c.897T>C (n.897T>C)
c.737T>C (p.Val246Ala)
c.542T>C (p.Val181Ala)
c.491T>C (p.Val164Ala)
9g.94605545A>TCA374106493FBP1c.897T>A (n.897T>A)
c.737T>A (p.Val246Glu)
c.542T>A (p.Val181Glu)
c.491T>A (p.Val164Glu)
9g.94605546C>ACA374106494FBP1c.896G>T (n.896G>T)
c.736G>T (p.Val246Leu)
c.541G>T (p.Val181Leu)
c.490G>T (p.Val164Leu)
9g.94605546C>GCA374106495FBP1c.896G>C (n.896G>C)
c.736G>C (p.Val246Leu)
c.541G>C (p.Val181Leu)
c.490G>C (p.Val164Leu)
9g.94605546C>TCA374106496FBP1c.896G>A (n.896G>A)
c.736G>A (p.Val246Met)
c.541G>A (p.Val181Met)
c.490G>A (p.Val164Met)
 gnomAD v4
9g.94605547A=CA1865226057FBP1c.895T= (n.895T=)
c.735T= (p.Tyr245=)
c.540T= (p.Tyr180=)
c.489T= (p.Tyr163=)
9g.94605547A>CCA196552512FBP1c.895T>G (n.895T>G)
c.735T>G (p.Tyr245Ter)
c.540T>G (p.Tyr180Ter)
c.489T>G (p.Tyr163Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.94605547A>GCA466099834FBP1c.895T>C (n.895T>C)
c.735T>C (p.Tyr245=)
c.540T>C (p.Tyr180=)
c.489T>C (p.Tyr163=)
9g.94605547A>TCA374106497FBP1c.895T>A (n.895T>A)
c.735T>A (p.Tyr245Ter)
c.540T>A (p.Tyr180Ter)
c.489T>A (p.Tyr163Ter)
9g.94605548T>ACA374106498FBP1c.894A>T (n.894A>T)
c.734A>T (p.Tyr245Phe)
c.539A>T (p.Tyr180Phe)
c.488A>T (p.Tyr163Phe)
9g.94605548T>CCA374106499FBP1c.894A>G (n.894A>G)
c.734A>G (p.Tyr245Cys)
c.539A>G (p.Tyr180Cys)
c.488A>G (p.Tyr163Cys)
9g.94605548T>GCA374106500FBP1c.894A>C (n.894A>C)
c.734A>C (p.Tyr245Ser)
c.539A>C (p.Tyr180Ser)
c.488A>C (p.Tyr163Ser)
9g.94605549A>CCA374106501FBP1c.893T>G (n.893T>G)
c.733T>G (p.Tyr245Asp)
c.538T>G (p.Tyr180Asp)
c.487T>G (p.Tyr163Asp)
9g.94605549A>GCA374106502FBP1c.893T>C (n.893T>C)
c.733T>C (p.Tyr245His)
c.538T>C (p.Tyr180His)
c.487T>C (p.Tyr163His)
9g.94605549A>TCA374106503FBP1c.893T>A (n.893T>A)
c.733T>A (p.Tyr245Asn)
c.538T>A (p.Tyr180Asn)
c.487T>A (p.Tyr163Asn)
9g.94605550C>ACA466099840FBP1c.892G>T (n.892G>T)
c.732G>T (p.Arg244=)
c.537G>T (p.Arg179=)
c.486G>T (p.Arg162=)
9g.94605550C=CA1865226058FBP1c.892G= (n.892G=)
c.732G= (p.Arg244=)
c.537G= (p.Arg179=)
c.486G= (p.Arg162=)
9g.94605550C>GCA466099841FBP1c.892G>C (n.892G>C)
c.732G>C (p.Arg244=)
c.537G>C (p.Arg179=)
c.486G>C (p.Arg162=)
9g.94605550C>TCA5136136FBP1c.892G>A (n.892G>A)
c.732G>A (p.Arg244=)
c.537G>A (p.Arg179=)
c.486G>A (p.Arg162=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605551C>ACA374106504FBP1c.891G>T (n.891G>T)
c.731G>T (p.Arg244Leu)
c.536G>T (p.Arg179Leu)
c.485G>T (p.Arg162Leu)
 dbSNP gnomAD v2
9g.94605551C=CA1865226059FBP1c.891G= (n.891G=)
c.731G= (p.Arg244=)
c.536G= (p.Arg179=)
c.485G= (p.Arg162=)
9g.94605551C>GCA374106505FBP1c.891G>C (n.891G>C)
c.731G>C (p.Arg244Pro)
c.536G>C (p.Arg179Pro)
c.485G>C (p.Arg162Pro)
9g.94605551C>TCA5136137FBP1c.891G>A (n.891G>A)
c.731G>A (p.Arg244Gln)
c.536G>A (p.Arg179Gln)
c.485G>A (p.Arg162Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605552G>ACA322078FBP1c.890C>T (n.890C>T)
c.730C>T (p.Arg244Trp)
c.535C>T (p.Arg179Trp)
c.484C>T (p.Arg162Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605552G>CCA374106506FBP1c.890C>G (n.890C>G)
c.730C>G (p.Arg244Gly)
c.535C>G (p.Arg179Gly)
c.484C>G (p.Arg162Gly)
 gnomAD v4
9g.94605552G=CA1865226060FBP1c.890C= (n.890C=)
c.730C= (p.Arg244=)
c.535C= (p.Arg179=)
c.484C= (p.Arg162=)
9g.94605552G>TCA466099843FBP1c.890C>A (n.890C>A)
c.730C>A (p.Arg244=)
c.535C>A (p.Arg179=)
c.484C>A (p.Arg162=)
9g.94605552_94605562delinsGGGCCCCATAACA1865226061FBP1c.880_890delinsTTATGGGGCCC (n.880_890delinsTTATGGGGCCC)
c.720_730delinsTTATGGGGCCC (p.Pro240=)
c.525_535delinsTTATGGGGCCC (p.Pro175=)
c.474_484delinsTTATGGGGCCC (p.Pro158=)
9g.94605553G>ACA466099844FBP1c.889C>T (n.889C>T)
c.729C>T (p.Ala243=)
c.534C>T (p.Ala178=)
c.483C>T (p.Ala161=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.94605553G>CCA466099845FBP1c.889C>G (n.889C>G)
c.729C>G (p.Ala243=)
c.534C>G (p.Ala178=)
c.483C>G (p.Ala161=)
9g.94605553G=CA1865226062FBP1c.889C= (n.889C=)
c.729C= (p.Ala243=)
c.534C= (p.Ala178=)
c.483C= (p.Ala161=)
9g.94605553G>TCA466099847FBP1c.889C>A (n.889C>A)
c.729C>A (p.Ala243=)
c.534C>A (p.Ala178=)
c.483C>A (p.Ala161=)
9g.94605555_94605564delCA16609828FBP1c.880_889del (n.880_889del)
c.720_729del (p.Tyr241GlyfsTer?)
c.525_534del (p.Tyr176GlyfsTer?)
c.474_483del (p.Tyr159GlyfsTer?)
 ClinVar dbSNP
9g.94605554G>ACA374106509FBP1c.888C>T (n.888C>T)
c.728C>T (p.Ala243Val)
c.533C>T (p.Ala178Val)
c.482C>T (p.Ala161Val)
9g.94605554G>CCA374106508FBP1c.888C>G (n.888C>G)
c.728C>G (p.Ala243Gly)
c.533C>G (p.Ala178Gly)
c.482C>G (p.Ala161Gly)
9g.94605554G>TCA374106507FBP1c.888C>A (n.888C>A)
c.728C>A (p.Ala243Asp)
c.533C>A (p.Ala178Asp)
c.482C>A (p.Ala161Asp)
9g.94605556_94605580delCA2690769175FBP1c.866-2_888del
c.706-2_728del
c.511-2_533del
c.460-2_482del
 gnomAD v4
9g.94605555C>ACA374106512FBP1c.887G>T (n.887G>T)
c.727G>T (p.Ala243Ser)
c.532G>T (p.Ala178Ser)
c.481G>T (p.Ala161Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.94605555C=CA1865226063FBP1c.887G= (n.887G=)
c.727G= (p.Ala243=)
c.532G= (p.Ala178=)
c.481G= (p.Ala161=)
9g.94605555C>GCA374106510FBP1c.887G>C (n.887G>C)
c.727G>C (p.Ala243Pro)
c.532G>C (p.Ala178Pro)
c.481G>C (p.Ala161Pro)
9g.94605555C>TCA374106511FBP1c.887G>A (n.887G>A)
c.727G>A (p.Ala243Thr)
c.532G>A (p.Ala178Thr)
c.481G>A (p.Ala161Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.94605557_94605558dupCA2690769176FBP1c.886_887dup (n.886_887dup)
c.726_727dup (p.Ala243GlyfsTer?)
c.531_532dup (p.Ala178GlyfsTer?)
c.480_481dup (p.Ala161GlyfsTer?)
 gnomAD v4
9g.94605556C>ACA466099852FBP1c.886G>T (n.886G>T)
c.726G>T (p.Gly242=)
c.531G>T (p.Gly177=)
c.480G>T (p.Gly160=)
9g.94605556C=CA1865226064FBP1c.886G= (n.886G=)
c.726G= (p.Gly242=)
c.531G= (p.Gly177=)
c.480G= (p.Gly160=)
9g.94605556C>GCA466099853FBP1c.886G>C (n.886G>C)
c.726G>C (p.Gly242=)
c.531G>C (p.Gly177=)
c.480G>C (p.Gly160=)
9g.94605556C>TCA466099851FBP1c.886G>A (n.886G>A)
c.726G>A (p.Gly242=)
c.531G>A (p.Gly177=)
c.480G>A (p.Gly160=)
 dbSNP gnomAD v3 gnomAD v4
9g.94605557C>ACA374106513FBP1c.885G>T (n.885G>T)
c.725G>T (p.Gly242Val)
c.530G>T (p.Gly177Val)
c.479G>T (p.Gly160Val)
9g.94605557C>GCA374106514FBP1c.885G>C (n.885G>C)
c.725G>C (p.Gly242Ala)
c.530G>C (p.Gly177Ala)
c.479G>C (p.Gly160Ala)
9g.94605557C>TCA374106515FBP1c.885G>A (n.885G>A)
c.725G>A (p.Gly242Glu)
c.530G>A (p.Gly177Glu)
c.479G>A (p.Gly160Glu)
9g.94605558C>ACA374106516FBP1c.884G>T (n.884G>T)
c.724G>T (p.Gly242Trp)
c.529G>T (p.Gly177Trp)
c.478G>T (p.Gly160Trp)
9g.94605558C>GCA374106517FBP1c.884G>C (n.884G>C)
c.724G>C (p.Gly242Arg)
c.529G>C (p.Gly177Arg)
c.478G>C (p.Gly160Arg)
9g.94605558C>TCA374106518FBP1c.884G>A (n.884G>A)
c.724G>A (p.Gly242Arg)
c.529G>A (p.Gly177Arg)
c.478G>A (p.Gly160Arg)

Number of alleles fetched