Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94620328_94620491delinsCCCTTTTCTCCGGTTCCACTATGATGGCGTGTTTATCTTCTTCTGACACGAGAACACACGTGGCAAAGGATGACTTTAACATGTTCATAACCAGGTCGTTGGAGAGGACGTCCAGCTTCTTAACTTGATCACCTGTCACGTTGGTAGAACCAGCAATGCCATAGCA1865239855FBP1c.171_333+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG
c.69_231+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG
c.-82_81+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG
c.-76_87+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG
9g.94620330_94620492delCA658821566FBP1c.171_333del
c.69_231del
c.-82_81del
c.-76_87del
 ClinVar dbSNP
9g.94620398T>ACA466102921FBP1c.264A>T (p.Ser88=)
c.162A>T (p.Ser54=)
c.12A>T (p.Ser4=)
c.18A>T (p.Ser6=)
9g.94620398T>CCA466102922FBP1c.264A>G (p.Ser88=)
c.162A>G (p.Ser54=)
c.12A>G (p.Ser4=)
c.18A>G (p.Ser6=)
9g.94620398T>GCA466102923FBP1c.264A>C (p.Ser88=)
c.162A>C (p.Ser54=)
c.12A>C (p.Ser4=)
c.18A>C (p.Ser6=)
9g.94620399G>ACA374108615FBP1c.263C>T (p.Ser88Leu)
c.161C>T (p.Ser54Leu)
c.11C>T (p.Ser4Leu)
c.17C>T (p.Ser6Leu)
9g.94620399G>CCA374108616FBP1c.263C>G (p.Ser88Ter)
c.161C>G (p.Ser54Ter)
c.11C>G (p.Ser4Ter)
c.17C>G (p.Ser6Ter)
9g.94620399G>TCA374108617FBP1c.263C>A (p.Ser88Ter)
c.161C>A (p.Ser54Ter)
c.11C>A (p.Ser4Ter)
c.17C>A (p.Ser6Ter)
9g.94620400A>CCA374108618FBP1c.262T>G (p.Ser88Ala)
c.160T>G (p.Ser54Ala)
c.10T>G (p.Ser4Ala)
c.16T>G (p.Ser6Ala)
9g.94620400A>GCA374108619FBP1c.262T>C (p.Ser88Pro)
c.160T>C (p.Ser54Pro)
c.10T>C (p.Ser4Pro)
c.16T>C (p.Ser6Pro)
9g.94620400A>TCA374108620FBP1c.262T>A (p.Ser88Thr)
c.160T>A (p.Ser54Thr)
c.10T>A (p.Ser4Thr)
c.16T>A (p.Ser6Thr)
9g.94620401C>ACA374108621FBP1c.261G>T (p.Lys87Asn)
c.159G>T (p.Lys53Asn)
c.9G>T (p.Lys3Asn)
c.15G>T (p.Lys5Asn)
9g.94620401C>GCA374108622FBP1c.261G>C (p.Lys87Asn)
c.159G>C (p.Lys53Asn)
c.9G>C (p.Lys3Asn)
c.15G>C (p.Lys5Asn)
9g.94620401C>TCA466102924FBP1c.261G>A (p.Lys87=)
c.159G>A (p.Lys53=)
c.9G>A (p.Lys3=)
c.15G>A (p.Lys5=)
9g.94620402T>ACA374108623FBP1c.260A>T (p.Lys87Met)
c.158A>T (p.Lys53Met)
c.8A>T (p.Lys3Met)
c.14A>T (p.Lys5Met)
9g.94620402T>CCA374108624FBP1c.260A>G (p.Lys87Arg)
c.158A>G (p.Lys53Arg)
c.8A>G (p.Lys3Arg)
c.14A>G (p.Lys5Arg)
9g.94620402T>GCA374108625FBP1c.260A>C (p.Lys87Thr)
c.158A>C (p.Lys53Thr)
c.8A>C (p.Lys3Thr)
c.14A>C (p.Lys5Thr)
9g.94620403T>ACA374108626FBP1c.259A>T (p.Lys87Ter)
c.157A>T (p.Lys53Ter)
c.7A>T (p.Lys3Ter)
c.13A>T (p.Lys5Ter)
9g.94620403T>CCA374108628FBP1c.259A>G (p.Lys87Glu)
c.157A>G (p.Lys53Glu)
c.7A>G (p.Lys3Glu)
c.13A>G (p.Lys5Glu)
9g.94620403T>GCA374108627FBP1c.259A>C (p.Lys87Gln)
c.157A>C (p.Lys53Gln)
c.7A>C (p.Lys3Gln)
c.13A>C (p.Lys5Gln)
9g.94620404T>ACA374108629FBP1c.258A>T (p.Leu86Phe)
c.156A>T (p.Leu52Phe)
c.6A>T (p.Leu2Phe)
c.12A>T (p.Leu4Phe)
9g.94620404T>CCA466102925FBP1c.258A>G (p.Leu86=)
c.156A>G (p.Leu52=)
c.6A>G (p.Leu2=)
c.12A>G (p.Leu4=)
9g.94620404T>GCA374108630FBP1c.258A>C (p.Leu86Phe)
c.156A>C (p.Leu52Phe)
c.6A>C (p.Leu2Phe)
c.12A>C (p.Leu4Phe)
9g.94620405A>CCA374108631FBP1c.257T>G (p.Leu86Ter)
c.155T>G (p.Leu52Ter)
c.5T>G (p.Leu2Ter)
c.11T>G (p.Leu4Ter)
9g.94620405A>GCA374108632FBP1c.257T>C (p.Leu86Ser)
c.155T>C (p.Leu52Ser)
c.5T>C (p.Leu2Ser)
c.11T>C (p.Leu4Ser)
9g.94620405A>TCA374108633FBP1c.257T>A (p.Leu86Ter)
c.155T>A (p.Leu52Ter)
c.5T>A (p.Leu2Ter)
c.11T>A (p.Leu4Ter)
9g.94620406A>CCA374108634FBP1c.256T>G (p.Leu86Val)
c.154T>G (p.Leu52Val)
c.4T>G (p.Leu2Val)
c.10T>G (p.Leu4Val)
 gnomAD v3 gnomAD v4
9g.94620406A>GCA466102926FBP1c.256T>C (p.Leu86=)
c.154T>C (p.Leu52=)
c.4T>C (p.Leu2=)
c.10T>C (p.Leu4=)
9g.94620406A>TCA374108635FBP1c.256T>A (p.Leu86Ile)
c.154T>A (p.Leu52Ile)
c.4T>A (p.Leu2Ile)
c.10T>A (p.Leu4Ile)
9g.94620407C>ACA374108636FBP1c.255G>T (p.Met85Ile)
c.153G>T (p.Met51Ile)
c.3G>T (p.Met1Ile)
c.9G>T (p.Met3Ile)
9g.94620407C=CA1865239997FBP1c.255G= (p.Met85=)
c.153G= (p.Met51=)
c.3G= (p.Met1=)
c.9G= (p.Met3=)
9g.94620407C>GCA374108637FBP1c.255G>C (p.Met85Ile)
c.153G>C (p.Met51Ile)
c.3G>C (p.Met1Ile)
c.9G>C (p.Met3Ile)
9g.94620407C>TCA374108638FBP1c.255G>A (p.Met85Ile)
c.153G>A (p.Met51Ile)
c.3G>A (p.Met1Ile)
c.9G>A (p.Met3Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94620408A=CA1865240006FBP1c.254T= (p.Met85=)
c.152T= (p.Met51=)
c.2T= (p.Met1=)
c.8T= (p.Met3=)
9g.94620408A>CCA374108639FBP1c.254T>G (p.Met85Arg)
c.152T>G (p.Met51Arg)
c.2T>G (p.Met1Arg)
c.8T>G (p.Met3Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.94620408A>GCA374108640FBP1c.254T>C (p.Met85Thr)
c.152T>C (p.Met51Thr)
c.2T>C (p.Met1Thr)
c.8T>C (p.Met3Thr)
9g.94620408A>TCA374108641FBP1c.254T>A (p.Met85Lys)
c.152T>A (p.Met51Lys)
c.2T>A (p.Met1Lys)
c.8T>A (p.Met3Lys)
9g.94620409T>ACA196564432FBP1c.253A>T (p.Met85Leu)
c.151A>T (p.Met51Leu)
c.1A>T (p.Met1Leu)
c.7A>T (p.Met3Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.94620409T>CCA374108643FBP1c.253A>G (p.Met85Val)
c.151A>G (p.Met51Val)
c.1A>G (p.Met1Val)
c.7A>G (p.Met3Val)
9g.94620409T>GCA374108642FBP1c.253A>C (p.Met85Leu)
c.151A>C (p.Met51Leu)
c.1A>C (p.Met1Leu)
c.7A>C (p.Met3Leu)
9g.94620409T=CA1865240010FBP1c.253A= (p.Met85=)
c.151A= (p.Met51=)
c.1A= (p.Met1=)
c.7A= (p.Met3=)
9g.94620410G>ACA466102927FBP1c.252C>T (p.Asn84=)
c.150C>T (p.Asn50=)
c.-1C>T (n.-1C>T)
c.6C>T (p.Asn2=)
 gnomAD v4
9g.94620410G>CCA374108644FBP1c.252C>G (p.Asn84Lys)
c.150C>G (p.Asn50Lys)
c.-1C>G (n.-1C>G)
c.6C>G (p.Asn2Lys)
9g.94620410G>TCA374108645FBP1c.252C>A (p.Asn84Lys)
c.150C>A (p.Asn50Lys)
c.-1C>A (n.-1C>A)
c.6C>A (p.Asn2Lys)
9g.94620411T>ACA374108646FBP1c.251A>T (p.Asn84Ile)
c.149A>T (p.Asn50Ile)
c.-2A>T (n.-2A>T)
c.5A>T (p.Asn2Ile)
9g.94620411T>CCA374108647FBP1c.251A>G (p.Asn84Ser)
c.149A>G (p.Asn50Ser)
c.-2A>G (n.-2A>G)
c.5A>G (p.Asn2Ser)
9g.94620411T>GCA374108648FBP1c.251A>C (p.Asn84Thr)
c.149A>C (p.Asn50Thr)
c.-2A>C (n.-2A>C)
c.5A>C (p.Asn2Thr)
9g.94620412T>ACA374108649FBP1c.250A>T (p.Asn84Tyr)
c.148A>T (p.Asn50Tyr)
c.-3A>T (n.-3A>T)
c.4A>T (p.Asn2Tyr)
9g.94620412T>CCA374108650FBP1c.250A>G (p.Asn84Asp)
c.148A>G (p.Asn50Asp)
c.-3A>G (n.-3A>G)
c.4A>G (p.Asn2Asp)
9g.94620412T>GCA374108651FBP1c.250A>C (p.Asn84His)
c.148A>C (p.Asn50His)
c.-3A>C (n.-3A>C)
c.4A>C (p.Asn2His)
9g.94620413C>ACA374108652FBP1c.249G>T (p.Met83Ile)
c.147G>T (p.Met49Ile)
c.-4G>T (n.-4G>T)
c.3G>T (p.Met1Ile)
9g.94620413C>GCA374108653FBP1c.249G>C (p.Met83Ile)
c.147G>C (p.Met49Ile)
c.-4G>C (n.-4G>C)
c.3G>C (p.Met1Ile)
9g.94620413C>TCA374108654FBP1c.249G>A (p.Met83Ile)
c.147G>A (p.Met49Ile)
c.-4G>A (n.-4G>A)
c.3G>A (p.Met1Ile)
 gnomAD v4
9g.94620414A>CCA374108655FBP1c.248T>G (p.Met83Arg)
c.146T>G (p.Met49Arg)
c.-5T>G (n.-5T>G)
c.2T>G (p.Met1Arg)
9g.94620414A>GCA374108656FBP1c.248T>C (p.Met83Thr)
c.146T>C (p.Met49Thr)
c.-5T>C (n.-5T>C)
c.2T>C (p.Met1Thr)
9g.94620414A>TCA374108657FBP1c.248T>A (p.Met83Lys)
c.146T>A (p.Met49Lys)
c.-5T>A (n.-5T>A)
c.2T>A (p.Met1Lys)
9g.94620415T>ACA374108659FBP1c.247A>T (p.Met83Leu)
c.145A>T (p.Met49Leu)
c.-6A>T (n.-6A>T)
c.1A>T (p.Met1Leu)
9g.94620415T>CCA374108660FBP1c.247A>G (p.Met83Val)
c.145A>G (p.Met49Val)
c.-6A>G (n.-6A>G)
c.1A>G (p.Met1Val)
9g.94620415T>GCA374108658FBP1c.247A>C (p.Met83Leu)
c.145A>C (p.Met49Leu)
c.-6A>C (n.-6A>C)
c.1A>C (p.Met1Leu)
9g.94620416A>CCA466102928FBP1c.246T>G (p.Val82=)
c.144T>G (p.Val48=)
c.-7T>G (n.-7T>G)
c.-1T>G (n.-1T>G)
9g.94620416A>GCA466102929FBP1c.246T>C (p.Val82=)
c.144T>C (p.Val48=)
c.-7T>C (n.-7T>C)
c.-1T>C (n.-1T>C)
9g.94620416A>TCA466102930FBP1c.246T>A (p.Val82=)
c.144T>A (p.Val48=)
c.-7T>A (n.-7T>A)
c.-1T>A (n.-1T>A)
9g.94620417A>CCA374108661FBP1c.245T>G (p.Val82Gly)
c.143T>G (p.Val48Gly)
c.-8T>G (n.-8T>G)
c.-2T>G (n.-2T>G)
9g.94620417A>GCA374108662FBP1c.245T>C (p.Val82Ala)
c.143T>C (p.Val48Ala)
c.-8T>C (n.-8T>C)
c.-2T>C (n.-2T>C)
9g.94620417A>TCA374108663FBP1c.245T>A (p.Val82Asp)
c.143T>A (p.Val48Asp)
c.-8T>A (n.-8T>A)
c.-2T>A (n.-2T>A)
9g.94620418C>ACA374108664FBP1c.244G>T (p.Val82Phe)
c.142G>T (p.Val48Phe)
c.-9G>T (n.-9G>T)
c.-3G>T (n.-3G>T)
9g.94620418C>GCA374108665FBP1c.244G>C (p.Val82Leu)
c.142G>C (p.Val48Leu)
c.-9G>C (n.-9G>C)
c.-3G>C (n.-3G>C)
9g.94620418C>TCA374108666FBP1c.244G>A (p.Val82Ile)
c.142G>A (p.Val48Ile)
c.-9G>A (n.-9G>A)
c.-3G>A (n.-3G>A)
9g.94620419delCA2690769023FBP1c.244del (p.Val82LeufsTer2)
c.142del (p.Val48LeufsTer2)
c.-9del (n.-9del)
c.-3del (n.-3del)
 gnomAD v4
9g.94620419C>ACA466102931FBP1c.243G>T (p.Leu81=)
c.141G>T (p.Leu47=)
c.-10G>T (n.-10G>T)
c.-4G>T (n.-4G>T)
9g.94620419C>GCA466102932FBP1c.243G>C (p.Leu81=)
c.141G>C (p.Leu47=)
c.-10G>C (n.-10G>C)
c.-4G>C (n.-4G>C)
9g.94620419C>TCA466102933FBP1c.243G>A (p.Leu81=)
c.141G>A (p.Leu47=)
c.-10G>A (n.-10G>A)
c.-4G>A (n.-4G>A)
9g.94620420A=CA1865240013FBP1c.242T= (p.Leu81=)
c.140T= (p.Leu47=)
c.-11T= (n.-11T=)
c.-5T= (n.-5T=)
9g.94620420A>CCA374108667FBP1c.242T>G (p.Leu81Arg)
c.140T>G (p.Leu47Arg)
c.-11T>G (n.-11T>G)
c.-5T>G (n.-5T>G)
9g.94620420A>GCA5136302FBP1c.242T>C (p.Leu81Pro)
c.140T>C (p.Leu47Pro)
c.-11T>C (n.-11T>C)
c.-5T>C (n.-5T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620420A>TCA374108668FBP1c.242T>A (p.Leu81Gln)
c.140T>A (p.Leu47Gln)
c.-11T>A (n.-11T>A)
c.-5T>A (n.-5T>A)
9g.94620421G>ACA466102935FBP1c.241C>T (p.Leu81=)
c.139C>T (p.Leu47=)
c.-12C>T (n.-12C>T)
c.-6C>T (n.-6C>T)
9g.94620421G>CCA374108669FBP1c.241C>G (p.Leu81Val)
c.139C>G (p.Leu47Val)
c.-12C>G (n.-12C>G)
c.-6C>G (n.-6C>G)
9g.94620421G>TCA374108670FBP1c.241C>A (p.Leu81Met)
c.139C>A (p.Leu47Met)
c.-12C>A (n.-12C>A)
c.-6C>A (n.-6C>A)
9g.94620422G>ACA5136303FBP1c.240C>T (p.Asp80=)
c.138C>T (p.Asp46=)
c.-13C>T (n.-13C>T)
c.-7C>T (n.-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620422G>CCA374108672FBP1c.240C>G (p.Asp80Glu)
c.138C>G (p.Asp46Glu)
c.-13C>G (n.-13C>G)
c.-7C>G (n.-7C>G)
9g.94620422G=CA1865240016FBP1c.240C= (p.Asp80=)
c.138C= (p.Asp46=)
c.-13C= (n.-13C=)
c.-7C= (n.-7C=)
9g.94620422G>TCA374108671FBP1c.240C>A (p.Asp80Glu)
c.138C>A (p.Asp46Glu)
c.-13C>A (n.-13C>A)
c.-7C>A (n.-7C>A)
9g.94620423T>ACA374108673FBP1c.239A>T (p.Asp80Val)
c.137A>T (p.Asp46Val)
c.-14A>T (n.-14A>T)
c.-8A>T (n.-8A>T)
9g.94620423T>CCA374108674FBP1c.239A>G (p.Asp80Gly)
c.137A>G (p.Asp46Gly)
c.-14A>G (n.-14A>G)
c.-8A>G (n.-8A>G)
9g.94620423T>GCA374108675FBP1c.239A>C (p.Asp80Ala)
c.137A>C (p.Asp46Ala)
c.-14A>C (n.-14A>C)
c.-8A>C (n.-8A>C)
9g.94620424delCA2690769024FBP1c.238del (p.Asp80ThrfsTer4)
c.136del (p.Asp46ThrfsTer4)
c.-15del (n.-15del)
c.-9del (n.-9del)
 gnomAD v4
9g.94620424C>ACA374108676FBP1c.238G>T (p.Asp80Tyr)
c.136G>T (p.Asp46Tyr)
c.-15G>T (n.-15G>T)
c.-9G>T (n.-9G>T)
9g.94620424C=CA1865240022FBP1c.238G= (p.Asp80=)
c.136G= (p.Asp46=)
c.-15G= (n.-15G=)
c.-9G= (n.-9G=)
9g.94620424C>GCA374108677FBP1c.238G>C (p.Asp80His)
c.136G>C (p.Asp46His)
c.-15G>C (n.-15G>C)
c.-9G>C (n.-9G>C)
 dbSNP
9g.94620424C>TCA5136304FBP1c.238G>A (p.Asp80Asn)
c.136G>A (p.Asp46Asn)
c.-15G>A (n.-15G>A)
c.-9G>A (n.-9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94620425G>ACA290915FBP1c.237C>T (p.Asn79=)
c.135C>T (p.Asn45=)
c.-16C>T (n.-16C>T)
c.-10C>T (n.-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94620425G>CCA374108678FBP1c.237C>G (p.Asn79Lys)
c.135C>G (p.Asn45Lys)
c.-16C>G (n.-16C>G)
c.-10C>G (n.-10C>G)
9g.94620425G=CA1865240031FBP1c.237C= (p.Asn79=)
c.135C= (p.Asn45=)
c.-16C= (n.-16C=)
c.-10C= (n.-10C=)
9g.94620425G>TCA374108679FBP1c.237C>A (p.Asn79Lys)
c.135C>A (p.Asn45Lys)
c.-16C>A (n.-16C>A)
c.-10C>A (n.-10C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94620426T>ACA374108680FBP1c.236A>T (p.Asn79Ile)
c.134A>T (p.Asn45Ile)
c.-17A>T (n.-17A>T)
c.-11A>T (n.-11A>T)
9g.94620426T>CCA374108681FBP1c.236A>G (p.Asn79Ser)
c.134A>G (p.Asn45Ser)
c.-17A>G (n.-17A>G)
c.-11A>G (n.-11A>G)
 gnomAD v4
9g.94620426T>GCA374108682FBP1c.236A>C (p.Asn79Thr)
c.134A>C (p.Asn45Thr)
c.-17A>C (n.-17A>C)
c.-11A>C (n.-11A>C)
9g.94620427T>ACA374108683FBP1c.235A>T (p.Asn79Tyr)
c.133A>T (p.Asn45Tyr)
c.-18A>T (n.-18A>T)
c.-12A>T (n.-12A>T)
9g.94620427T>CCA374108685FBP1c.235A>G (p.Asn79Asp)
c.133A>G (p.Asn45Asp)
c.-18A>G (n.-18A>G)
c.-12A>G (n.-12A>G)
9g.94620427T>GCA374108684FBP1c.235A>C (p.Asn79His)
c.133A>C (p.Asn45His)
c.-18A>C (n.-18A>C)
c.-12A>C (n.-12A>C)
9g.94620428G>ACA466102936FBP1c.234C>T (p.Ser78=)
c.132C>T (p.Ser44=)
c.-19C>T (n.-19C>T)
c.-13C>T (n.-13C>T)
9g.94620428G>CCA466102937FBP1c.234C>G (p.Ser78=)
c.132C>G (p.Ser44=)
c.-19C>G (n.-19C>G)
c.-13C>G (n.-13C>G)
9g.94620428G>TCA466102938FBP1c.234C>A (p.Ser78=)
c.132C>A (p.Ser44=)
c.-19C>A (n.-19C>A)
c.-13C>A (n.-13C>A)
9g.94620429G>ACA374108686FBP1c.233C>T (p.Ser78Phe)
c.131C>T (p.Ser44Phe)
c.-20C>T (n.-20C>T)
c.-14C>T (n.-14C>T)
9g.94620429G>CCA374108688FBP1c.233C>G (p.Ser78Cys)
c.131C>G (p.Ser44Cys)
c.-20C>G (n.-20C>G)
c.-14C>G (n.-14C>G)
9g.94620429G>TCA374108687FBP1c.233C>A (p.Ser78Tyr)
c.131C>A (p.Ser44Tyr)
c.-20C>A (n.-20C>A)
c.-14C>A (n.-14C>A)
9g.94620430A>CCA374108689FBP1c.232T>G (p.Ser78Ala)
c.130T>G (p.Ser44Ala)
c.-21T>G (n.-21T>G)
c.-15T>G (n.-15T>G)
9g.94620430A>GCA374108691FBP1c.232T>C (p.Ser78Pro)
c.130T>C (p.Ser44Pro)
c.-21T>C (n.-21T>C)
c.-15T>C (n.-15T>C)
9g.94620430A>TCA374108690FBP1c.232T>A (p.Ser78Thr)
c.130T>A (p.Ser44Thr)
c.-21T>A (n.-21T>A)
c.-15T>A (n.-15T>A)
9g.94620431G>ACA466102941FBP1c.231C>T (p.Leu77=)
c.129C>T (p.Leu43=)
c.-22C>T (n.-22C>T)
c.-16C>T (n.-16C>T)
9g.94620431G>CCA466102940FBP1c.231C>G (p.Leu77=)
c.129C>G (p.Leu43=)
c.-22C>G (n.-22C>G)
c.-16C>G (n.-16C>G)
9g.94620431G>TCA466102939FBP1c.231C>A (p.Leu77=)
c.129C>A (p.Leu43=)
c.-22C>A (n.-22C>A)
c.-16C>A (n.-16C>A)
 gnomAD v4
9g.94620432A>CCA374108692FBP1c.230T>G (p.Leu77Arg)
c.128T>G (p.Leu43Arg)
c.-23T>G (n.-23T>G)
c.-17T>G (n.-17T>G)
9g.94620432A>GCA374108693FBP1c.230T>C (p.Leu77Pro)
c.128T>C (p.Leu43Pro)
c.-23T>C (n.-23T>C)
c.-17T>C (n.-17T>C)
9g.94620432A>TCA374108694FBP1c.230T>A (p.Leu77His)
c.128T>A (p.Leu43His)
c.-23T>A (n.-23T>A)
c.-17T>A (n.-17T>A)
9g.94620433G>ACA374108695FBP1c.229C>T (p.Leu77Phe)
c.127C>T (p.Leu43Phe)
c.-24C>T (n.-24C>T)
c.-18C>T (n.-18C>T)
 dbSNP gnomAD v4
9g.94620433G>CCA374108696FBP1c.229C>G (p.Leu77Val)
c.127C>G (p.Leu43Val)
c.-24C>G (n.-24C>G)
c.-18C>G (n.-18C>G)
9g.94620433G=CA1865240042FBP1c.229C= (p.Leu77=)
c.127C= (p.Leu43=)
c.-24C= (n.-24C=)
c.-18C= (n.-18C=)
9g.94620433G>TCA374108697FBP1c.229C>A (p.Leu77Ile)
c.127C>A (p.Leu43Ile)
c.-24C>A (n.-24C>A)
c.-18C>A (n.-18C>A)
9g.94620434G>ACA466102944FBP1c.228C>T (p.Val76=)
c.126C>T (p.Val42=)
c.-25C>T (n.-25C>T)
c.-19C>T (n.-19C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.94620434G>CCA466102943FBP1c.228C>G (p.Val76=)
c.126C>G (p.Val42=)
c.-25C>G (n.-25C>G)
c.-19C>G (n.-19C>G)
9g.94620434G=CA1865240045FBP1c.228C= (p.Val76=)
c.126C= (p.Val42=)
c.-25C= (n.-25C=)
c.-19C= (n.-19C=)
9g.94620434G>TCA466102942FBP1c.228C>A (p.Val76=)
c.126C>A (p.Val42=)
c.-25C>A (n.-25C>A)
c.-19C>A (n.-19C>A)
9g.94620435A=CA1865240053FBP1c.227T= (p.Val76=)
c.125T= (p.Val42=)
c.-26T= (n.-26T=)
c.-20T= (n.-20T=)
9g.94620435A>CCA374108698FBP1c.227T>G (p.Val76Gly)
c.125T>G (p.Val42Gly)
c.-26T>G (n.-26T>G)
c.-20T>G (n.-20T>G)
9g.94620435A>GCA374108699FBP1c.227T>C (p.Val76Ala)
c.125T>C (p.Val42Ala)
c.-26T>C (n.-26T>C)
c.-20T>C (n.-20T>C)
 dbSNP
9g.94620435A>TCA374108700FBP1c.227T>A (p.Val76Asp)
c.125T>A (p.Val42Asp)
c.-26T>A (n.-26T>A)
c.-20T>A (n.-20T>A)
9g.94620436C>ACA374108701FBP1c.226G>T (p.Val76Phe)
c.124G>T (p.Val42Phe)
c.-27G>T (n.-27G>T)
c.-21G>T (n.-21G>T)
 gnomAD v4
9g.94620436C=CA1865240058FBP1c.226G= (p.Val76=)
c.124G= (p.Val42=)
c.-27G= (n.-27G=)
c.-21G= (n.-21G=)
9g.94620436C>GCA374108702FBP1c.226G>C (p.Val76Leu)
c.124G>C (p.Val42Leu)
c.-27G>C (n.-27G>C)
c.-21G>C (n.-21G>C)
9g.94620436C>TCA5136305FBP1c.226G>A (p.Val76Ile)
c.124G>A (p.Val42Ile)
c.-27G>A (n.-27G>A)
c.-21G>A (n.-21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620437G>ACA5136306FBP1c.225C>T (p.Asp75=)
c.123C>T (p.Asp41=)
c.-28C>T (n.-28C>T)
c.-22C>T (n.-22C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620437G>CCA374108705FBP1c.225C>G (p.Asp75Glu)
c.123C>G (p.Asp41Glu)
c.-28C>G (n.-28C>G)
c.-22C>G (n.-22C>G)
9g.94620437G=CA1865240068FBP1c.225C= (p.Asp75=)
c.123C= (p.Asp41=)
c.-28C= (n.-28C=)
c.-22C= (n.-22C=)
9g.94620437G>TCA374108704FBP1c.225C>A (p.Asp75Glu)
c.123C>A (p.Asp41Glu)
c.-28C>A (n.-28C>A)
c.-22C>A (n.-22C>A)
9g.94620438T>ACA374108706FBP1c.224A>T (p.Asp75Val)
c.122A>T (p.Asp41Val)
c.-29A>T (n.-29A>T)
c.-23A>T (n.-23A>T)
9g.94620438T>CCA374108707FBP1c.224A>G (p.Asp75Gly)
c.122A>G (p.Asp41Gly)
c.-29A>G (n.-29A>G)
c.-23A>G (n.-23A>G)
9g.94620438T>GCA374108708FBP1c.224A>C (p.Asp75Ala)
c.122A>C (p.Asp41Ala)
c.-29A>C (n.-29A>C)
c.-23A>C (n.-23A>C)
9g.94620439C>ACA374108709FBP1c.223G>T (p.Asp75Tyr)
c.121G>T (p.Asp41Tyr)
c.-30G>T (n.-30G>T)
c.-24G>T (n.-24G>T)
9g.94620439C=CA1865240073FBP1c.223G= (p.Asp75=)
c.121G= (p.Asp41=)
c.-30G= (n.-30G=)
c.-24G= (n.-24G=)
9g.94620439C>GCA374108710FBP1c.223G>C (p.Asp75His)
c.121G>C (p.Asp41His)
c.-30G>C (n.-30G>C)
c.-24G>C (n.-24G>C)
 dbSNP gnomAD v3 gnomAD v4
9g.94620439C>TCA374108711FBP1c.223G>A (p.Asp75Asn)
c.121G>A (p.Asp41Asn)
c.-30G>A (n.-30G>A)
c.-24G>A (n.-24G>A)
 ClinVar
9g.94620440C>ACA466102945FBP1c.222G>T (p.Leu74=)
c.120G>T (p.Leu40=)
c.-31G>T (n.-31G>T)
c.-25G>T (n.-25G>T)
9g.94620440C>GCA466102946FBP1c.222G>C (p.Leu74=)
c.120G>C (p.Leu40=)
c.-31G>C (n.-31G>C)
c.-25G>C (n.-25G>C)
 ClinVar gnomAD v4
9g.94620440C>TCA466102947FBP1c.222G>A (p.Leu74=)
c.120G>A (p.Leu40=)
c.-31G>A (n.-31G>A)
c.-25G>A (n.-25G>A)
9g.94620441A>CCA374108715FBP1c.221T>G (p.Leu74Arg)
c.119T>G (p.Leu40Arg)
c.-32T>G (n.-32T>G)
c.-26T>G (n.-26T>G)
9g.94620441A>GCA374108716FBP1c.221T>C (p.Leu74Pro)
c.119T>C (p.Leu40Pro)
c.-32T>C (n.-32T>C)
c.-26T>C (n.-26T>C)
9g.94620441A>TCA374108718FBP1c.221T>A (p.Leu74Gln)
c.119T>A (p.Leu40Gln)
c.-32T>A (n.-32T>A)
c.-26T>A (n.-26T>A)
9g.94620442G>ACA466102948FBP1c.220C>T (p.Leu74=)
c.118C>T (p.Leu40=)
c.-33C>T (n.-33C>T)
c.-27C>T (n.-27C>T)
9g.94620442G>CCA374108723FBP1c.220C>G (p.Leu74Val)
c.118C>G (p.Leu40Val)
c.-33C>G (n.-33C>G)
c.-27C>G (n.-27C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94620442G=CA1865240077FBP1c.220C= (p.Leu74=)
c.118C= (p.Leu40=)
c.-33C= (n.-33C=)
c.-27C= (n.-27C=)
9g.94620442G>TCA374108720FBP1c.220C>A (p.Leu74Met)
c.118C>A (p.Leu40Met)
c.-33C>A (n.-33C>A)
c.-27C>A (n.-27C>A)
9g.94620443C>ACA374108725FBP1c.219G>T (p.Lys73Asn)
c.117G>T (p.Lys39Asn)
c.-34G>T (n.-34G>T)
c.-28G>T (n.-28G>T)
9g.94620443C>GCA374108726FBP1c.219G>C (p.Lys73Asn)
c.117G>C (p.Lys39Asn)
c.-34G>C (n.-34G>C)
c.-28G>C (n.-28G>C)
9g.94620443C>TCA466102949FBP1c.219G>A (p.Lys73=)
c.117G>A (p.Lys39=)
c.-34G>A (n.-34G>A)
c.-28G>A (n.-28G>A)
9g.94620446_94620448delCA2690769025FBP1c.217_219del (p.Lys73del)
c.115_117del (p.Lys39del)
c.-36_-34del (n.-36_-34del)
c.-30_-28del (n.-30_-28del)
 gnomAD v4
9g.94620444T>ACA374108728FBP1c.218A>T (p.Lys73Met)
c.116A>T (p.Lys39Met)
c.-35A>T (n.-35A>T)
c.-29A>T (n.-29A>T)
9g.94620444T>CCA374108730FBP1c.218A>G (p.Lys73Arg)
c.116A>G (p.Lys39Arg)
c.-35A>G (n.-35A>G)
c.-29A>G (n.-29A>G)
9g.94620444T>GCA374108733FBP1c.218A>C (p.Lys73Thr)
c.116A>C (p.Lys39Thr)
c.-35A>C (n.-35A>C)
c.-29A>C (n.-29A>C)
9g.94620445T>ACA374108735FBP1c.217A>T (p.Lys73Ter)
c.115A>T (p.Lys39Ter)
c.-36A>T (n.-36A>T)
c.-30A>T (n.-30A>T)
9g.94620445T>CCA374108737FBP1c.217A>G (p.Lys73Glu)
c.115A>G (p.Lys39Glu)
c.-36A>G (n.-36A>G)
c.-30A>G (n.-30A>G)
9g.94620445T>GCA374108739FBP1c.217A>C (p.Lys73Gln)
c.115A>C (p.Lys39Gln)
c.-36A>C (n.-36A>C)
c.-30A>C (n.-30A>C)
9g.94620446C>ACA374108742FBP1c.216G>T (p.Lys72Asn)
c.114G>T (p.Lys38Asn)
c.-37G>T (n.-37G>T)
c.-31G>T (n.-31G>T)
9g.94620446C>GCA374108744FBP1c.216G>C (p.Lys72Asn)
c.114G>C (p.Lys38Asn)
c.-37G>C (n.-37G>C)
c.-31G>C (n.-31G>C)
9g.94620446C>TCA466102950FBP1c.216G>A (p.Lys72=)
c.114G>A (p.Lys38=)
c.-37G>A (n.-37G>A)
c.-31G>A (n.-31G>A)
 ClinVar
9g.94620447T>ACA374108745FBP1c.215A>T (p.Lys72Met)
c.113A>T (p.Lys38Met)
c.-38A>T (n.-38A>T)
c.-32A>T (n.-32A>T)
9g.94620447T>CCA374108747FBP1c.215A>G (p.Lys72Arg)
c.113A>G (p.Lys38Arg)
c.-38A>G (n.-38A>G)
c.-32A>G (n.-32A>G)
9g.94620447T>GCA374108749FBP1c.215A>C (p.Lys72Thr)
c.113A>C (p.Lys38Thr)
c.-38A>C (n.-38A>C)
c.-32A>C (n.-32A>C)
9g.94620448T>ACA374108752FBP1c.214A>T (p.Lys72Ter)
c.112A>T (p.Lys38Ter)
c.-39A>T (n.-39A>T)
c.-33A>T (n.-33A>T)
9g.94620448T>CCA374108756FBP1c.214A>G (p.Lys72Glu)
c.112A>G (p.Lys38Glu)
c.-39A>G (n.-39A>G)
c.-33A>G (n.-33A>G)
9g.94620448T>GCA374108754FBP1c.214A>C (p.Lys72Gln)
c.112A>C (p.Lys38Gln)
c.-39A>C (n.-39A>C)
c.-33A>C (n.-33A>C)
9g.94620449A>CCA466102951FBP1c.213T>G (p.Val71=)
c.111T>G (p.Val37=)
c.-40T>G (n.-40T>G)
c.-34T>G (n.-34T>G)
 gnomAD v4
9g.94620449A>GCA466102952FBP1c.213T>C (p.Val71=)
c.111T>C (p.Val37=)
c.-40T>C (n.-40T>C)
c.-34T>C (n.-34T>C)
9g.94620449A>TCA466102953FBP1c.213T>A (p.Val71=)
c.111T>A (p.Val37=)
c.-40T>A (n.-40T>A)
c.-34T>A (n.-34T>A)
9g.94620450A=CA1865240078FBP1c.212T= (p.Val71=)
c.110T= (p.Val37=)
c.-41T= (n.-41T=)
c.-35T= (n.-35T=)
9g.94620450A>CCA374108758FBP1c.212T>G (p.Val71Gly)
c.110T>G (p.Val37Gly)
c.-41T>G (n.-41T>G)
c.-35T>G (n.-35T>G)
9g.94620450A>GCA5136307FBP1c.212T>C (p.Val71Ala)
c.110T>C (p.Val37Ala)
c.-41T>C (n.-41T>C)
c.-35T>C (n.-35T>C)
 dbSNP ExAC gnomAD v2
9g.94620450A>TCA374108762FBP1c.212T>A (p.Val71Asp)
c.110T>A (p.Val37Asp)
c.-41T>A (n.-41T>A)
c.-35T>A (n.-35T>A)
9g.94620451C>ACA374108765FBP1c.211G>T (p.Val71Phe)
c.109G>T (p.Val37Phe)
c.-42G>T (n.-42G>T)
c.-36G>T (n.-36G>T)
9g.94620451C=CA1865240080FBP1c.211G= (p.Val71=)
c.109G= (p.Val37=)
c.-42G= (n.-42G=)
c.-36G= (n.-36G=)
9g.94620451C>GCA374108767FBP1c.211G>C (p.Val71Leu)
c.109G>C (p.Val37Leu)
c.-42G>C (n.-42G>C)
c.-36G>C (n.-36G>C)
9g.94620451C>TCA5136308FBP1c.211G>A (p.Val71Ile)
c.109G>A (p.Val37Ile)
c.-42G>A (n.-42G>A)
c.-36G>A (n.-36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620452T>ACA374108771FBP1c.210A>T (p.Gln70His)
c.108A>T (p.Gln36His)
c.-43A>T (n.-43A>T)
c.-37A>T (n.-37A>T)
9g.94620452T>CCA466102954FBP1c.210A>G (p.Gln70=)
c.108A>G (p.Gln36=)
c.-43A>G (n.-43A>G)
c.-37A>G (n.-37A>G)
 COSMIC
9g.94620452T>GCA374108773FBP1c.210A>C (p.Gln70His)
c.108A>C (p.Gln36His)
c.-43A>C (n.-43A>C)
c.-37A>C (n.-37A>C)
9g.94620453T>ACA374108775FBP1c.209A>T (p.Gln70Leu)
c.107A>T (p.Gln36Leu)
c.-44A>T (n.-44A>T)
c.-38A>T (n.-38A>T)
9g.94620453T>CCA374108778FBP1c.209A>G (p.Gln70Arg)
c.107A>G (p.Gln36Arg)
c.-44A>G (n.-44A>G)
c.-38A>G (n.-38A>G)
 dbSNP
9g.94620453T>GCA374108780FBP1c.209A>C (p.Gln70Pro)
c.107A>C (p.Gln36Pro)
c.-44A>C (n.-44A>C)
c.-38A>C (n.-38A>C)
9g.94620453T=CA1865240081FBP1c.209A= (p.Gln70=)
c.107A= (p.Gln36=)
c.-44A= (n.-44A=)
c.-38A= (n.-38A=)
9g.94620454G>ACA374108785FBP1c.208C>T (p.Gln70Ter)
c.106C>T (p.Gln36Ter)
c.-45C>T (n.-45C>T)
c.-39C>T (n.-39C>T)
 gnomAD v4
9g.94620454G>CCA374108787FBP1c.208C>G (p.Gln70Glu)
c.106C>G (p.Gln36Glu)
c.-45C>G (n.-45C>G)
c.-39C>G (n.-39C>G)
9g.94620454G>TCA374108783FBP1c.208C>A (p.Gln70Lys)
c.106C>A (p.Gln36Lys)
c.-45C>A (n.-45C>A)
c.-39C>A (n.-39C>A)
9g.94620455A>CCA374108792FBP1c.207T>G (p.Asp69Glu)
c.105T>G (p.Asp35Glu)
c.-46T>G (n.-46T>G)
c.-40T>G (n.-40T>G)
9g.94620455A>GCA466102955FBP1c.207T>C (p.Asp69=)
c.105T>C (p.Asp35=)
c.-46T>C (n.-46T>C)
c.-40T>C (n.-40T>C)
9g.94620455A>TCA374108789FBP1c.207T>A (p.Asp69Glu)
c.105T>A (p.Asp35Glu)
c.-46T>A (n.-46T>A)
c.-40T>A (n.-40T>A)
9g.94620456T>ACA374108794FBP1c.206A>T (p.Asp69Val)
c.104A>T (p.Asp35Val)
c.-47A>T (n.-47A>T)
c.-41A>T (n.-41A>T)
9g.94620456T>CCA196564488FBP1c.206A>G (p.Asp69Gly)
c.104A>G (p.Asp35Gly)
c.-47A>G (n.-47A>G)
c.-41A>G (n.-41A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.94620456T>GCA374108798FBP1c.206A>C (p.Asp69Ala)
c.104A>C (p.Asp35Ala)
c.-47A>C (n.-47A>C)
c.-41A>C (n.-41A>C)
9g.94620456T=CA1865240083FBP1c.206A= (p.Asp69=)
c.104A= (p.Asp35=)
c.-47A= (n.-47A=)
c.-41A= (n.-41A=)
9g.94620457C>ACA374108800FBP1c.205G>T (p.Asp69Tyr)
c.103G>T (p.Asp35Tyr)
c.-48G>T (n.-48G>T)
c.-42G>T (n.-42G>T)
9g.94620457C=CA1865240084FBP1c.205G= (p.Asp69=)
c.103G= (p.Asp35=)
c.-48G= (n.-48G=)
c.-42G= (n.-42G=)
9g.94620457C>GCA374108802FBP1c.205G>C (p.Asp69His)
c.103G>C (p.Asp35His)
c.-48G>C (n.-48G>C)
c.-42G>C (n.-42G>C)
9g.94620457C>TCA374108804FBP1c.205G>A (p.Asp69Asn)
c.103G>A (p.Asp35Asn)
c.-48G>A (n.-48G>A)
c.-42G>A (n.-42G>A)
 dbSNP gnomAD v4
9g.94620458A=CA1865240087FBP1c.204T= (p.Gly68=)
c.102T= (p.Gly34=)
c.-49T= (n.-49T=)
c.-43T= (n.-43T=)
9g.94620458A>CCA466102956FBP1c.204T>G (p.Gly68=)
c.102T>G (p.Gly34=)
c.-49T>G (n.-49T>G)
c.-43T>G (n.-43T>G)
9g.94620458A>GCA466102957FBP1c.204T>C (p.Gly68=)
c.102T>C (p.Gly34=)
c.-49T>C (n.-49T>C)
c.-43T>C (n.-43T>C)
 dbSNP gnomAD v2 gnomAD v4
9g.94620458A>TCA466102958FBP1c.204T>A (p.Gly68=)
c.102T>A (p.Gly34=)
c.-49T>A (n.-49T>A)
c.-43T>A (n.-43T>A)
9g.94620459C>ACA374108806FBP1c.203G>T (p.Gly68Val)
c.101G>T (p.Gly34Val)
c.-50G>T (n.-50G>T)
c.-44G>T (n.-44G>T)
9g.94620459C=CA1865240089FBP1c.203G= (p.Gly68=)
c.101G= (p.Gly34=)
c.-50G= (n.-50G=)
c.-44G= (n.-44G=)
9g.94620459C>GCA374108808FBP1c.203G>C (p.Gly68Ala)
c.101G>C (p.Gly34Ala)
c.-50G>C (n.-50G>C)
c.-44G>C (n.-44G>C)
 dbSNP gnomAD v2
9g.94620459C>TCA374108810FBP1c.203G>A (p.Gly68Asp)
c.101G>A (p.Gly34Asp)
c.-50G>A (n.-50G>A)
c.-44G>A (n.-44G>A)
9g.94620460C>ACA374108811FBP1c.202G>T (p.Gly68Cys)
c.100G>T (p.Gly34Cys)
c.-51G>T (n.-51G>T)
c.-45G>T (n.-45G>T)
9g.94620460C>GCA374108813FBP1c.202G>C (p.Gly68Arg)
c.100G>C (p.Gly34Arg)
c.-51G>C (n.-51G>C)
c.-45G>C (n.-45G>C)
9g.94620460C>TCA374108815FBP1c.202G>A (p.Gly68Ser)
c.100G>A (p.Gly34Ser)
c.-51G>A (n.-51G>A)
c.-45G>A (n.-45G>A)
9g.94620461T>ACA466102959FBP1c.201A>T (p.Thr67=)
c.99A>T (p.Thr33=)
c.-52A>T (n.-52A>T)
c.-46A>T (n.-46A>T)
9g.94620461T>CCA466102960FBP1c.201A>G (p.Thr67=)
c.99A>G (p.Thr33=)
c.-52A>G (n.-52A>G)
c.-46A>G (n.-46A>G)
 gnomAD v4
9g.94620461T>GCA466102961FBP1c.201A>C (p.Thr67=)
c.99A>C (p.Thr33=)
c.-52A>C (n.-52A>C)
c.-46A>C (n.-46A>C)
9g.94620462G>ACA374108821FBP1c.200C>T (p.Thr67Ile)
c.98C>T (p.Thr33Ile)
c.-53C>T (n.-53C>T)
c.-47C>T (n.-47C>T)
 gnomAD v4
9g.94620462G>CCA374108818FBP1c.200C>G (p.Thr67Arg)
c.98C>G (p.Thr33Arg)
c.-53C>G (n.-53C>G)
c.-47C>G (n.-47C>G)
9g.94620462G>TCA374108819FBP1c.200C>A (p.Thr67Lys)
c.98C>A (p.Thr33Lys)
c.-53C>A (n.-53C>A)
c.-47C>A (n.-47C>A)
9g.94620463T>ACA374108824FBP1c.199A>T (p.Thr67Ser)
c.97A>T (p.Thr33Ser)
c.-54A>T (n.-54A>T)
c.-48A>T (n.-48A>T)
9g.94620463T>CCA374108826FBP1c.199A>G (p.Thr67Ala)
c.97A>G (p.Thr33Ala)
c.-54A>G (n.-54A>G)
c.-48A>G (n.-48A>G)
9g.94620463T>GCA374108828FBP1c.199A>C (p.Thr67Pro)
c.97A>C (p.Thr33Pro)
c.-54A>C (n.-54A>C)
c.-48A>C (n.-48A>C)
9g.94620463_94620464insGCTGAGAAAAACATGAACTTCAAGTCTGGCATGTACGGCTATTTTAGGAATGATGAAAAACAACTTCA5136309FBP1c.199_200insAGTTGTTTTTCATCATTCCTAAAATAGCCGTACATGCCAGACTTGAAGTTCATGTTTTTCTCAGCA (p.Val66_Thr67insLysLeuPhePheIleIleProLysIleAlaValHisAlaArgLeuGluValHisValPheLeuSer)
c.97_98insAGTTGTTTTTCATCATTCCTAAAATAGCCGTACATGCCAGACTTGAAGTTCATGTTTTTCTCAGCA (p.Val32_Thr33insLysLeuPhePheIleIleProLysIleAlaValHisAlaArgLeuGluValHisValPheLeuSer)
c.-54_-53insAGTTGTTTTTCATCATTCCTAAAATAGCCGTACATGCCAGACTTGAAGTTCATGTTTTTCTCAGCA (n.-54_-53insAGTTGTTTTTCATCATTCCTAAAATAGCCGTACATGCCAGACTTGAAGTTCATGTTTTTCTCAGCA)
c.-48_-47insAGTTGTTTTTCATCATTCCTAAAATAGCCGTACATGCCAGACTTGAAGTTCATGTTTTTCTCAGCA (n.-48_-47insAGTTGTTTTTCATCATTCCTAAAATAGCCGTACATGCCAGACTTGAAGTTCATGTTTTTCTCAGCA)
 ExAC
9g.94620464C>ACA466102962FBP1c.198G>T (p.Val66=)
c.96G>T (p.Val32=)
c.-55G>T (n.-55G>T)
c.-49G>T (n.-49G>T)
9g.94620464C>GCA466102963FBP1c.198G>C (p.Val66=)
c.96G>C (p.Val32=)
c.-55G>C (n.-55G>C)
c.-49G>C (n.-49G>C)
9g.94620464C>TCA466102964FBP1c.198G>A (p.Val66=)
c.96G>A (p.Val32=)
c.-55G>A (n.-55G>A)
c.-49G>A (n.-49G>A)
9g.94620465A=CA1865240097FBP1c.197T= (p.Val66=)
c.95T= (p.Val32=)
c.-56T= (n.-56T=)
c.-50T= (n.-50T=)
9g.94620465A>CCA374108830FBP1c.197T>G (p.Val66Gly)
c.95T>G (p.Val32Gly)
c.-56T>G (n.-56T>G)
c.-50T>G (n.-50T>G)
9g.94620465A>GCA374108832FBP1c.197T>C (p.Val66Ala)
c.95T>C (p.Val32Ala)
c.-56T>C (n.-56T>C)
c.-50T>C (n.-50T>C)
9g.94620465A>TCA374108834FBP1c.197T>A (p.Val66Glu)
c.95T>A (p.Val32Glu)
c.-56T>A (n.-56T>A)
c.-50T>A (n.-50T>A)
 dbSNP gnomAD v2 gnomAD v4
9g.94620466C>ACA5136311FBP1c.196G>T (p.Val66Leu)
c.94G>T (p.Val32Leu)
c.-57G>T (n.-57G>T)
c.-51G>T (n.-51G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620466C=CA1865240116FBP1c.196G= (p.Val66=)
c.94G= (p.Val32=)
c.-57G= (n.-57G=)
c.-51G= (n.-51G=)
9g.94620466C>GCA374108838FBP1c.196G>C (p.Val66Leu)
c.94G>C (p.Val32Leu)
c.-57G>C (n.-57G>C)
c.-51G>C (n.-51G>C)
9g.94620466C>TCA5136310FBP1c.196G>A (p.Val66Met)
c.94G>A (p.Val32Met)
c.-57G>A (n.-57G>A)
c.-51G>A (n.-51G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620467G>ACA5136312FBP1c.195C>T (p.Asn65=)
c.93C>T (p.Asn31=)
c.-58C>T (n.-58C>T)
c.-52C>T (n.-52C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620467G>CCA374108844FBP1c.195C>G (p.Asn65Lys)
c.93C>G (p.Asn31Lys)
c.-58C>G (n.-58C>G)
c.-52C>G (n.-52C>G)
9g.94620467G=CA1865240126FBP1c.195C= (p.Asn65=)
c.93C= (p.Asn31=)
c.-58C= (n.-58C=)
c.-52C= (n.-52C=)
9g.94620467G>TCA374108846FBP1c.195C>A (p.Asn65Lys)
c.93C>A (p.Asn31Lys)
c.-58C>A (n.-58C>A)
c.-52C>A (n.-52C>A)
9g.94620468T>ACA374108851FBP1c.194A>T (p.Asn65Ile)
c.92A>T (p.Asn31Ile)
c.-59A>T (n.-59A>T)
c.-53A>T (n.-53A>T)
9g.94620468T>CCA5136313FBP1c.194A>G (p.Asn65Ser)
c.92A>G (p.Asn31Ser)
c.-59A>G (n.-59A>G)
c.-53A>G (n.-53A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620468T>GCA5136314FBP1c.194A>C (p.Asn65Thr)
c.92A>C (p.Asn31Thr)
c.-59A>C (n.-59A>C)
c.-53A>C (n.-53A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620468T=CA1865240134FBP1c.194A= (p.Asn65=)
c.92A= (p.Asn31=)
c.-59A= (n.-59A=)
c.-53A= (n.-53A=)
9g.94620469T>ACA374108854FBP1c.193A>T (p.Asn65Tyr)
c.91A>T (p.Asn31Tyr)
c.-60A>T (n.-60A>T)
c.-54A>T (n.-54A>T)
9g.94620469T>CCA374108855FBP1c.193A>G (p.Asn65Asp)
c.91A>G (p.Asn31Asp)
c.-60A>G (n.-60A>G)
c.-54A>G (n.-54A>G)
9g.94620469T>GCA374108857FBP1c.193A>C (p.Asn65His)
c.91A>C (p.Asn31His)
c.-60A>C (n.-60A>C)
c.-54A>C (n.-54A>C)
9g.94620470G>ACA466102967FBP1c.192C>T (p.Thr64=)
c.90C>T (p.Thr30=)
c.-61C>T (n.-61C>T)
c.-55C>T (n.-55C>T)
9g.94620470G>CCA466102966FBP1c.192C>G (p.Thr64=)
c.90C>G (p.Thr30=)
c.-61C>G (n.-61C>G)
c.-55C>G (n.-55C>G)
9g.94620470G>TCA466102965FBP1c.192C>A (p.Thr64=)
c.90C>A (p.Thr30=)
c.-61C>A (n.-61C>A)
c.-55C>A (n.-55C>A)
9g.94620471G>ACA374108859FBP1c.191C>T (p.Thr64Ile)
c.89C>T (p.Thr30Ile)
c.-62C>T (n.-62C>T)
c.-56C>T (n.-56C>T)
9g.94620471G>CCA374108862FBP1c.191C>G (p.Thr64Ser)
c.89C>G (p.Thr30Ser)
c.-62C>G (n.-62C>G)
c.-56C>G (n.-56C>G)
9g.94620471G>TCA374108863FBP1c.191C>A (p.Thr64Asn)
c.89C>A (p.Thr30Asn)
c.-62C>A (n.-62C>A)
c.-56C>A (n.-56C>A)
9g.94620472T>ACA374108864FBP1c.190A>T (p.Thr64Ser)
c.88A>T (p.Thr30Ser)
c.-63A>T (n.-63A>T)
c.-57A>T (n.-57A>T)
9g.94620472T>CCA374108865FBP1c.190A>G (p.Thr64Ala)
c.88A>G (p.Thr30Ala)
c.-63A>G (n.-63A>G)
c.-57A>G (n.-57A>G)
9g.94620472T>GCA374108867FBP1c.190A>C (p.Thr64Pro)
c.88A>C (p.Thr30Pro)
c.-63A>C (n.-63A>C)
c.-57A>C (n.-57A>C)
9g.94620473A>CCA466102968FBP1c.189T>G (p.Ser63=)
c.87T>G (p.Ser29=)
c.-64T>G (n.-64T>G)
c.-58T>G (n.-58T>G)
9g.94620473A>GCA466102969FBP1c.189T>C (p.Ser63=)
c.87T>C (p.Ser29=)
c.-64T>C (n.-64T>C)
c.-58T>C (n.-58T>C)
 COSMIC
9g.94620473A>TCA466102970FBP1c.189T>A (p.Ser63=)
c.87T>A (p.Ser29=)
c.-64T>A (n.-64T>A)
c.-58T>A (n.-58T>A)
9g.94620474G>ACA374108869FBP1c.188C>T (p.Ser63Phe)
c.86C>T (p.Ser29Phe)
c.-65C>T (n.-65C>T)
c.-59C>T (n.-59C>T)
9g.94620474G>CCA374108871FBP1c.188C>G (p.Ser63Cys)
c.86C>G (p.Ser29Cys)
c.-65C>G (n.-65C>G)
c.-59C>G (n.-59C>G)
9g.94620474G>TCA374108873FBP1c.188C>A (p.Ser63Tyr)
c.86C>A (p.Ser29Tyr)
c.-65C>A (n.-65C>A)
c.-59C>A (n.-59C>A)
9g.94620475A>CCA374108876FBP1c.187T>G (p.Ser63Ala)
c.85T>G (p.Ser29Ala)
c.-66T>G (n.-66T>G)
c.-60T>G (n.-60T>G)
9g.94620475A>GCA374108878FBP1c.187T>C (p.Ser63Pro)
c.85T>C (p.Ser29Pro)
c.-66T>C (n.-66T>C)
c.-60T>C (n.-60T>C)
9g.94620475A>TCA374108875FBP1c.187T>A (p.Ser63Thr)
c.85T>A (p.Ser29Thr)
c.-66T>A (n.-66T>A)
c.-60T>A (n.-60T>A)
9g.94620476A>CCA466102972FBP1c.186T>G (p.Gly62=)
c.84T>G (p.Gly28=)
c.-67T>G (n.-67T>G)
c.-61T>G (n.-61T>G)
9g.94620476A>GCA466102974FBP1c.186T>C (p.Gly62=)
c.84T>C (p.Gly28=)
c.-67T>C (n.-67T>C)
c.-61T>C (n.-61T>C)
 ClinVar gnomAD v4
9g.94620476A>TCA466102973FBP1c.186T>A (p.Gly62=)
c.84T>A (p.Gly28=)
c.-67T>A (n.-67T>A)
c.-61T>A (n.-61T>A)
9g.94620477C>ACA374108881FBP1c.185G>T (p.Gly62Val)
c.83G>T (p.Gly28Val)
c.-68G>T (n.-68G>T)
c.-62G>T (n.-62G>T)
9g.94620477C>GCA374108883FBP1c.185G>C (p.Gly62Ala)
c.83G>C (p.Gly28Ala)
c.-68G>C (n.-68G>C)
c.-62G>C (n.-62G>C)
9g.94620477C>TCA374108885FBP1c.185G>A (p.Gly62Asp)
c.83G>A (p.Gly28Asp)
c.-68G>A (n.-68G>A)
c.-62G>A (n.-62G>A)
9g.94620478C>ACA374108888FBP1c.184G>T (p.Gly62Cys)
c.82G>T (p.Gly28Cys)
c.-69G>T (n.-69G>T)
c.-63G>T (n.-63G>T)
9g.94620478C>GCA374108889FBP1c.184G>C (p.Gly62Arg)
c.82G>C (p.Gly28Arg)
c.-69G>C (n.-69G>C)
c.-63G>C (n.-63G>C)
9g.94620478C>TCA374108892FBP1c.184G>A (p.Gly62Ser)
c.82G>A (p.Gly28Ser)
c.-69G>A (n.-69G>A)
c.-63G>A (n.-63G>A)
9g.94620479A=CA1865240139FBP1c.183T= (p.Ala61=)
c.81T= (p.Ala27=)
c.-70T= (n.-70T=)
c.-64T= (n.-64T=)
9g.94620479A>CCA466102975FBP1c.183T>G (p.Ala61=)
c.81T>G (p.Ala27=)
c.-70T>G (n.-70T>G)
c.-64T>G (n.-64T>G)
9g.94620479A>GCA5136315FBP1c.183T>C (p.Ala61=)
c.81T>C (p.Ala27=)
c.-70T>C (n.-70T>C)
c.-64T>C (n.-64T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620479A>TCA466102976FBP1c.183T>A (p.Ala61=)
c.81T>A (p.Ala27=)
c.-70T>A (n.-70T>A)
c.-64T>A (n.-64T>A)
9g.94620480G>ACA374108897FBP1c.182C>T (p.Ala61Val)
c.80C>T (p.Ala27Val)
c.-71C>T (n.-71C>T)
c.-65C>T (n.-65C>T)
9g.94620480G>CCA374108898FBP1c.182C>G (p.Ala61Gly)
c.80C>G (p.Ala27Gly)
c.-71C>G (n.-71C>G)
c.-65C>G (n.-65C>G)
9g.94620480G>TCA374108901FBP1c.182C>A (p.Ala61Asp)
c.80C>A (p.Ala27Asp)
c.-71C>A (n.-71C>A)
c.-65C>A (n.-65C>A)
9g.94620481C>ACA374108904FBP1c.181G>T (p.Ala61Ser)
c.79G>T (p.Ala27Ser)
c.-72G>T (n.-72G>T)
c.-66G>T (n.-66G>T)
9g.94620481C>GCA374108906FBP1c.181G>C (p.Ala61Pro)
c.79G>C (p.Ala27Pro)
c.-72G>C (n.-72G>C)
c.-66G>C (n.-66G>C)
9g.94620481C>TCA374108907FBP1c.181G>A (p.Ala61Thr)
c.79G>A (p.Ala27Thr)
c.-72G>A (n.-72G>A)
c.-66G>A (n.-66G>A)
9g.94620482A>CCA374108909FBP1c.180T>G (p.Ile60Met)
c.78T>G (p.Ile26Met)
c.-73T>G (n.-73T>G)
c.-67T>G (n.-67T>G)
9g.94620482A>GCA466102977FBP1c.180T>C (p.Ile60=)
c.78T>C (p.Ile26=)
c.-73T>C (n.-73T>C)
c.-67T>C (n.-67T>C)
9g.94620482A>TCA466102978FBP1c.180T>A (p.Ile60=)
c.78T>A (p.Ile26=)
c.-73T>A (n.-73T>A)
c.-67T>A (n.-67T>A)
9g.94620483A>CCA374108914FBP1c.179T>G (p.Ile60Ser)
c.77T>G (p.Ile26Ser)
c.-74T>G (n.-74T>G)
c.-68T>G (n.-68T>G)
9g.94620483A>GCA374108916FBP1c.179T>C (p.Ile60Thr)
c.77T>C (p.Ile26Thr)
c.-74T>C (n.-74T>C)
c.-68T>C (n.-68T>C)
9g.94620483A>TCA374108912FBP1c.179T>A (p.Ile60Asn)
c.77T>A (p.Ile26Asn)
c.-74T>A (n.-74T>A)
c.-68T>A (n.-68T>A)
9g.94620484T>ACA374108920FBP1c.178A>T (p.Ile60Phe)
c.76A>T (p.Ile26Phe)
c.-75A>T (n.-75A>T)
c.-69A>T (n.-69A>T)
9g.94620484T>CCA374108918FBP1c.178A>G (p.Ile60Val)
c.76A>G (p.Ile26Val)
c.-75A>G (n.-75A>G)
c.-69A>G (n.-69A>G)
9g.94620484T>GCA374108922FBP1c.178A>C (p.Ile60Leu)
c.76A>C (p.Ile26Leu)
c.-75A>C (n.-75A>C)
c.-69A>C (n.-69A>C)
9g.94620485G>ACA466102980FBP1c.177C>T (p.Gly59=)
c.75C>T (p.Gly25=)
c.-76C>T (n.-76C>T)
c.-70C>T (n.-70C>T)
9g.94620485G>CCA466102981FBP1c.177C>G (p.Gly59=)
c.75C>G (p.Gly25=)
c.-76C>G (n.-76C>G)
c.-70C>G (n.-70C>G)
9g.94620485G>TCA466102979FBP1c.177C>A (p.Gly59=)
c.75C>A (p.Gly25=)
c.-76C>A (n.-76C>A)
c.-70C>A (n.-70C>A)
9g.94620486C>ACA374108925FBP1c.176G>T (p.Gly59Val)
c.74G>T (p.Gly25Val)
c.-77G>T (n.-77G>T)
c.-71G>T (n.-71G>T)
9g.94620486C>GCA374108929FBP1c.176G>C (p.Gly59Ala)
c.74G>C (p.Gly25Ala)
c.-77G>C (n.-77G>C)
c.-71G>C (n.-71G>C)
9g.94620486C>TCA374108927FBP1c.176G>A (p.Gly59Asp)
c.74G>A (p.Gly25Asp)
c.-77G>A (n.-77G>A)
c.-71G>A (n.-71G>A)
9g.94620487C>ACA374108931FBP1c.175G>T (p.Gly59Cys)
c.73G>T (p.Gly25Cys)
c.-78G>T (n.-78G>T)
c.-72G>T (n.-72G>T)
9g.94620487C>GCA374108936FBP1c.175G>C (p.Gly59Arg)
c.73G>C (p.Gly25Arg)
c.-78G>C (n.-78G>C)
c.-72G>C (n.-72G>C)
9g.94620487C>TCA374108933FBP1c.175G>A (p.Gly59Ser)
c.73G>A (p.Gly25Ser)
c.-78G>A (n.-78G>A)
c.-72G>A (n.-72G>A)
9g.94620488A>CCA374108938FBP1c.174T>G (p.Tyr58Ter)
c.72T>G (p.Tyr24Ter)
c.-79T>G (n.-79T>G)
c.-73T>G (n.-73T>G)
9g.94620488A>GCA466102982FBP1c.174T>C (p.Tyr58=)
c.72T>C (p.Tyr24=)
c.-79T>C (n.-79T>C)
c.-73T>C (n.-73T>C)
 gnomAD v4
9g.94620488A>TCA374108940FBP1c.174T>A (p.Tyr58Ter)
c.72T>A (p.Tyr24Ter)
c.-79T>A (n.-79T>A)
c.-73T>A (n.-73T>A)
9g.94620489T>ACA374108942FBP1c.173A>T (p.Tyr58Phe)
c.71A>T (p.Tyr24Phe)
c.-80A>T (n.-80A>T)
c.-74A>T (n.-74A>T)
9g.94620489T>CCA5136316FBP1c.173A>G (p.Tyr58Cys)
c.71A>G (p.Tyr24Cys)
c.-80A>G (n.-80A>G)
c.-74A>G (n.-74A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620489T>GCA374108945FBP1c.173A>C (p.Tyr58Ser)
c.71A>C (p.Tyr24Ser)
c.-80A>C (n.-80A>C)
c.-74A>C (n.-74A>C)
9g.94620489T=CA1865240144FBP1c.173A= (p.Tyr58=)
c.71A= (p.Tyr24=)
c.-80A= (n.-80A=)
c.-74A= (n.-74A=)
9g.94620490A>CCA374108948FBP1c.172T>G (p.Tyr58Asp)
c.70T>G (p.Tyr24Asp)
c.-81T>G (n.-81T>G)
c.-75T>G (n.-75T>G)
9g.94620490A>GCA374108950FBP1c.172T>C (p.Tyr58His)
c.70T>C (p.Tyr24His)
c.-81T>C (n.-81T>C)
c.-75T>C (n.-75T>C)
9g.94620490A>TCA374108952FBP1c.172T>A (p.Tyr58Asn)
c.70T>A (p.Tyr24Asn)
c.-81T>A (n.-81T>A)
c.-75T>A (n.-75T>A)
9g.94620491G>ACA466102983FBP1c.171C>T (p.Leu57=)
c.69C>T (p.Cys23=)
c.-82C>T (n.-82C>T)
c.-76C>T (n.-76C>T)
 gnomAD v4
9g.94620491G>CCA466102984FBP1c.171C>G (p.Leu57=)
c.69C>G (p.Cys23Trp)
c.-82C>G (n.-82C>G)
c.-76C>G (n.-76C>G)
9g.94620491G>TCA466102985FBP1c.171C>A (p.Leu57=)
c.69C>A (p.Cys23Ter)
c.-82C>A (n.-82C>A)
c.-76C>A (n.-76C>A)
9g.94620492C>ACA374108954FBP1c.171-1G>T (n.171-1G>T)
c.69-1G>T (n.69-1G>T)
c.-82-1G>T (n.-82-1G>T)
c.-76-1G>T (n.-76-1G>T)
9g.94620492C=CA1865240149FBP1c.171-1G= (n.171-1G=)
c.69-1G= (n.69-1G=)
c.-82-1G= (n.-82-1G=)
c.-76-1G= (n.-76-1G=)
9g.94620492C>GCA374108955FBP1c.171-1G>C (n.171-1G>C)
c.69-1G>C (n.69-1G>C)
c.-82-1G>C (n.-82-1G>C)
c.-76-1G>C (n.-76-1G>C)
 gnomAD v4
9g.94620492C>TCA374108957FBP1c.171-1G>A (n.171-1G>A)
c.69-1G>A (n.69-1G>A)
c.-82-1G>A (n.-82-1G>A)
c.-76-1G>A (n.-76-1G>A)
 dbSNP gnomAD v4
9g.94620493T>ACA374108962FBP1c.171-2A>T (n.171-2A>T)
c.69-2A>T (n.69-2A>T)
c.-82-2A>T (n.-82-2A>T)
c.-76-2A>T (n.-76-2A>T)
9g.94620493T>CCA374108960FBP1c.171-2A>G (n.171-2A>G)
c.69-2A>G (n.69-2A>G)
c.-82-2A>G (n.-82-2A>G)
c.-76-2A>G (n.-76-2A>G)
9g.94620493T>GCA374108959FBP1c.171-2A>C (n.171-2A>C)
c.69-2A>C (n.69-2A>C)
c.-82-2A>C (n.-82-2A>C)
c.-76-2A>C (n.-76-2A>C)
9g.94620495C>GCA2690769026FBP1c.171-4G>C (n.171-4G>C)
c.69-4G>C (n.69-4G>C)
c.-82-4G>C (n.-82-4G>C)
c.-76-4G>C (n.-76-4G>C)
 gnomAD v4
9g.94620495C>TCA2690769027FBP1c.171-4G>A (n.171-4G>A)
c.69-4G>A (n.69-4G>A)
c.-82-4G>A (n.-82-4G>A)
c.-76-4G>A (n.-76-4G>A)
 ClinVar gnomAD v4
9g.94620496A>GCA2690769028FBP1c.171-5T>C (n.171-5T>C)
c.69-5T>C (n.69-5T>C)
c.-82-5T>C (n.-82-5T>C)
c.-76-5T>C (n.-76-5T>C)
 gnomAD v4
9g.94620497G>ACA196564522FBP1c.171-6C>T (n.171-6C>T)
c.69-6C>T (n.69-6C>T)
c.-82-6C>T (n.-82-6C>T)
c.-76-6C>T (n.-76-6C>T)
 ClinVar dbSNP gnomAD v4
9g.94620497G=CA1865240151FBP1c.171-6C= (n.171-6C=)
c.69-6C= (n.69-6C=)
c.-82-6C= (n.-82-6C=)
c.-76-6C= (n.-76-6C=)
9g.94620498G>ACA589580801FBP1c.171-7C>T (n.171-7C>T)
c.69-7C>T (n.69-7C>T)
c.-82-7C>T (n.-82-7C>T)
c.-76-7C>T (n.-76-7C>T)
 dbSNP gnomAD v2
9g.94620498G=CA1865240153FBP1c.171-7C= (n.171-7C=)
c.69-7C= (n.69-7C=)
c.-82-7C= (n.-82-7C=)
c.-76-7C= (n.-76-7C=)

Number of alleles fetched