Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94620297T>GCA2579387303FBP1c.333+32A>C (n.333+32A>C)
c.231+32A>C (n.231+32A>C)
c.81+32A>C (n.81+32A>C)
c.87+32A>C (n.87+32A>C)
 gnomAD v4
9g.94620302C=CA1865239810FBP1c.333+27G= (n.333+27G=)
c.231+27G= (n.231+27G=)
c.81+27G= (n.81+27G=)
c.87+27G= (n.87+27G=)
9g.94620302C>TCA5136284FBP1c.333+27G>A (n.333+27G>A)
c.231+27G>A (n.231+27G>A)
c.81+27G>A (n.81+27G>A)
c.87+27G>A (n.87+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620303C=CA1865239814FBP1c.333+26G= (n.333+26G=)
c.231+26G= (n.231+26G=)
c.81+26G= (n.81+26G=)
c.87+26G= (n.87+26G=)
9g.94620303C>TCA5136285FBP1c.333+26G>A (n.333+26G>A)
c.231+26G>A (n.231+26G>A)
c.81+26G>A (n.81+26G>A)
c.87+26G>A (n.87+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620304C=CA1865239818FBP1c.333+25G= (n.333+25G=)
c.231+25G= (n.231+25G=)
c.81+25G= (n.81+25G=)
c.87+25G= (n.87+25G=)
9g.94620304C>TCA5136286FBP1c.333+25G>A (n.333+25G>A)
c.231+25G>A (n.231+25G>A)
c.81+25G>A (n.81+25G>A)
c.87+25G>A (n.87+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620307A=CA1865239824FBP1c.333+22T= (n.333+22T=)
c.231+22T= (n.231+22T=)
c.81+22T= (n.81+22T=)
c.87+22T= (n.87+22T=)
9g.94620307A>TCA1865239825FBP1c.333+22T>A (n.333+22T>A)
c.231+22T>A (n.231+22T>A)
c.81+22T>A (n.81+22T>A)
c.87+22T>A (n.87+22T>A)
 dbSNP
9g.94620308A>GCA2579387304FBP1c.333+21T>C (n.333+21T>C)
c.231+21T>C (n.231+21T>C)
c.81+21T>C (n.81+21T>C)
c.87+21T>C (n.87+21T>C)
9g.94620309T>CCA2720383987FBP1c.333+20A>G (n.333+20A>G)
c.231+20A>G (n.231+20A>G)
c.81+20A>G (n.81+20A>G)
c.87+20A>G (n.87+20A>G)
 dbSNP
9g.94620310G>ACA589580856FBP1c.333+19C>T (n.333+19C>T)
c.231+19C>T (n.231+19C>T)
c.81+19C>T (n.81+19C>T)
c.87+19C>T (n.87+19C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.94620310G=CA1865239827FBP1c.333+19C= (n.333+19C=)
c.231+19C= (n.231+19C=)
c.81+19C= (n.81+19C=)
c.87+19C= (n.87+19C=)
9g.94620311G>TCA2690769020FBP1c.333+18C>A (n.333+18C>A)
c.231+18C>A (n.231+18C>A)
c.81+18C>A (n.81+18C>A)
c.87+18C>A (n.87+18C>A)
 gnomAD v4
9g.94620312T>CCA2697557881FBP1c.333+17A>G (n.333+17A>G)
c.231+17A>G (n.231+17A>G)
c.81+17A>G (n.81+17A>G)
c.87+17A>G (n.87+17A>G)
 ClinVar
9g.94620313G>ACA5136287FBP1c.333+16C>T (n.333+16C>T)
c.231+16C>T (n.231+16C>T)
c.81+16C>T (n.81+16C>T)
c.87+16C>T (n.87+16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620313G>CCA196564278FBP1c.333+16C>G (n.333+16C>G)
c.231+16C>G (n.231+16C>G)
c.81+16C>G (n.81+16C>G)
c.87+16C>G (n.87+16C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.94620313G=CA1865239831FBP1c.333+16C= (n.333+16C=)
c.231+16C= (n.231+16C=)
c.81+16C= (n.81+16C=)
c.87+16C= (n.87+16C=)
9g.94620314G>ACA589580858FBP1c.333+15C>T (n.333+15C>T)
c.231+15C>T (n.231+15C>T)
c.81+15C>T (n.81+15C>T)
c.87+15C>T (n.87+15C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94620314G=CA1865239835FBP1c.333+15C= (n.333+15C=)
c.231+15C= (n.231+15C=)
c.81+15C= (n.81+15C=)
c.87+15C= (n.87+15C=)
9g.94620316A=CA1865239838FBP1c.333+13T= (n.333+13T=)
c.231+13T= (n.231+13T=)
c.81+13T= (n.81+13T=)
c.87+13T= (n.87+13T=)
9g.94620316A>TCA5136288FBP1c.333+13T>A (n.333+13T>A)
c.231+13T>A (n.231+13T>A)
c.81+13T>A (n.81+13T>A)
c.87+13T>A (n.87+13T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620317G>ACA589580860FBP1c.333+12C>T (n.333+12C>T)
c.231+12C>T (n.231+12C>T)
c.81+12C>T (n.81+12C>T)
c.87+12C>T (n.87+12C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94620317G=CA1865239839FBP1c.333+12C= (n.333+12C=)
c.231+12C= (n.231+12C=)
c.81+12C= (n.81+12C=)
c.87+12C= (n.87+12C=)
9g.94620319A=CA1865239840FBP1c.333+10T= (n.333+10T=)
c.231+10T= (n.231+10T=)
c.81+10T= (n.81+10T=)
c.87+10T= (n.87+10T=)
9g.94620319A>GCA196564280FBP1c.333+10T>C (n.333+10T>C)
c.231+10T>C (n.231+10T>C)
c.81+10T>C (n.81+10T>C)
c.87+10T>C (n.87+10T>C)
 dbSNP gnomAD v4
9g.94620320C=CA1865239843FBP1c.333+9G= (n.333+9G=)
c.231+9G= (n.231+9G=)
c.81+9G= (n.81+9G=)
c.87+9G= (n.87+9G=)
9g.94620320C>TCA5136289FBP1c.333+9G>A (n.333+9G>A)
c.231+9G>A (n.231+9G>A)
c.81+9G>A (n.81+9G>A)
c.87+9G>A (n.87+9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620321A=CA1865239846FBP1c.333+8T= (n.333+8T=)
c.231+8T= (n.231+8T=)
c.81+8T= (n.81+8T=)
c.87+8T= (n.87+8T=)
9g.94620321A>GCA5136290FBP1c.333+8T>C (n.333+8T>C)
c.231+8T>C (n.231+8T>C)
c.81+8T>C (n.81+8T>C)
c.87+8T>C (n.87+8T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620324C>ACA2579387305FBP1c.333+5G>T (n.333+5G>T)
c.231+5G>T (n.231+5G>T)
c.81+5G>T (n.81+5G>T)
c.87+5G>T (n.87+5G>T)
9g.94620327A>CCA374108455FBP1c.333+2T>G (n.333+2T>G)
c.231+2T>G (n.231+2T>G)
c.81+2T>G (n.81+2T>G)
c.87+2T>G (n.87+2T>G)
 ClinVar
9g.94620327A>GCA374108456FBP1c.333+2T>C (n.333+2T>C)
c.231+2T>C (n.231+2T>C)
c.81+2T>C (n.81+2T>C)
c.87+2T>C (n.87+2T>C)
9g.94620327A>TCA374108457FBP1c.333+2T>A (n.333+2T>A)
c.231+2T>A (n.231+2T>A)
c.81+2T>A (n.81+2T>A)
c.87+2T>A (n.87+2T>A)
9g.94620327_94620328delinsACCA1865239850FBP1c.333+1_333+2delinsGT (n.333+1_333+2delinsGT)
c.231+1_231+2delinsGT (n.231+1_231+2delinsGT)
c.81+1_81+2delinsGT (n.81+1_81+2delinsGT)
c.87+1_87+2delinsGT (n.87+1_87+2delinsGT)
9g.94620328C>ACA374108458FBP1c.333+1G>T (n.333+1G>T)
c.231+1G>T (n.231+1G>T)
c.81+1G>T (n.81+1G>T)
c.87+1G>T (n.87+1G>T)
9g.94620328C>GCA374108459FBP1c.333+1G>C (n.333+1G>C)
c.231+1G>C (n.231+1G>C)
c.81+1G>C (n.81+1G>C)
c.87+1G>C (n.87+1G>C)
9g.94620328C>TCA374108460FBP1c.333+1G>A (n.333+1G>A)
c.231+1G>A (n.231+1G>A)
c.81+1G>A (n.81+1G>A)
c.87+1G>A (n.87+1G>A)
9g.94620330delCA1865239854FBP1c.333+1del
c.231+1del
c.81+1del
c.87+1del
 dbSNP gnomAD v4
9g.94620328_94620491delinsCCCTTTTCTCCGGTTCCACTATGATGGCGTGTTTATCTTCTTCTGACACGAGAACACACGTGGCAAAGGATGACTTTAACATGTTCATAACCAGGTCGTTGGAGAGGACGTCCAGCTTCTTAACTTGATCACCTGTCACGTTGGTAGAACCAGCAATGCCATAGCA1865239855FBP1c.171_333+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG
c.69_231+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG
c.-82_81+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG
c.-76_87+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG
9g.94620329C>ACA374108461FBP1c.333G>T (p.Arg111Ser)
c.231G>T (p.Arg77Ser)
c.81G>T (p.Arg27Ser)
c.87G>T (p.Arg29Ser)
9g.94620329C>GCA374108462FBP1c.333G>C (p.Arg111Ser)
c.231G>C (p.Arg77Ser)
c.81G>C (p.Arg27Ser)
c.87G>C (p.Arg29Ser)
9g.94620329C>TCA466102883FBP1c.333G>A (p.Arg111=)
c.231G>A (p.Arg77=)
c.81G>A (p.Arg27=)
c.87G>A (p.Arg29=)
 gnomAD v4
9g.94620330_94620492delCA658821566FBP1c.171_333del
c.69_231del
c.-82_81del
c.-76_87del
 ClinVar dbSNP
9g.94620330C>ACA374108463FBP1c.332G>T (p.Arg111Met)
c.230G>T (p.Arg77Met)
c.80G>T (p.Arg27Met)
c.86G>T (p.Arg29Met)
 dbSNP gnomAD v3 gnomAD v4
9g.94620330C=CA1865239865FBP1c.332G= (p.Arg111=)
c.230G= (p.Arg77=)
c.80G= (p.Arg27=)
c.86G= (p.Arg29=)
9g.94620330C>GCA374108464FBP1c.332G>C (p.Arg111Thr)
c.230G>C (p.Arg77Thr)
c.80G>C (p.Arg27Thr)
c.86G>C (p.Arg29Thr)
 gnomAD v4
9g.94620330C>TCA374108465FBP1c.332G>A (p.Arg111Lys)
c.230G>A (p.Arg77Lys)
c.80G>A (p.Arg27Lys)
c.86G>A (p.Arg29Lys)
 COSMIC
9g.94620331T>ACA374108466FBP1c.331A>T (p.Arg111Trp)
c.229A>T (p.Arg77Trp)
c.79A>T (p.Arg27Trp)
c.85A>T (p.Arg29Trp)
9g.94620331T>CCA374108467FBP1c.331A>G (p.Arg111Gly)
c.229A>G (p.Arg77Gly)
c.79A>G (p.Arg27Gly)
c.85A>G (p.Arg29Gly)
9g.94620331T>GCA466102884FBP1c.331A>C (p.Arg111=)
c.229A>C (p.Arg77=)
c.79A>C (p.Arg27=)
c.85A>C (p.Arg29=)
9g.94620334delCA2579387306FBP1c.331del (p.Arg111GlyfsTer?)
c.229del (p.Arg77GlyfsTer?)
c.79del (p.Arg27GlyfsTer?)
c.85del (p.Arg29GlyfsTer?)
9g.94620332T>ACA374108468FBP1c.330A>T (p.Lys110Asn)
c.228A>T (p.Lys76Asn)
c.78A>T (p.Lys26Asn)
c.84A>T (p.Lys28Asn)
9g.94620332T>CCA466102885FBP1c.330A>G (p.Lys110=)
c.228A>G (p.Lys76=)
c.78A>G (p.Lys26=)
c.84A>G (p.Lys28=)
9g.94620332T>GCA374108469FBP1c.330A>C (p.Lys110Asn)
c.228A>C (p.Lys76Asn)
c.78A>C (p.Lys26Asn)
c.84A>C (p.Lys28Asn)
9g.94620333T>ACA374108470FBP1c.329A>T (p.Lys110Ile)
c.227A>T (p.Lys76Ile)
c.77A>T (p.Lys26Ile)
c.83A>T (p.Lys28Ile)
9g.94620333T>CCA374108471FBP1c.329A>G (p.Lys110Arg)
c.227A>G (p.Lys76Arg)
c.77A>G (p.Lys26Arg)
c.83A>G (p.Lys28Arg)
9g.94620333T>GCA374108472FBP1c.329A>C (p.Lys110Thr)
c.227A>C (p.Lys76Thr)
c.77A>C (p.Lys26Thr)
c.83A>C (p.Lys28Thr)
9g.94620334T>ACA374108473FBP1c.328A>T (p.Lys110Ter)
c.226A>T (p.Lys76Ter)
c.76A>T (p.Lys26Ter)
c.82A>T (p.Lys28Ter)
9g.94620334T>CCA374108474FBP1c.328A>G (p.Lys110Glu)
c.226A>G (p.Lys76Glu)
c.76A>G (p.Lys26Glu)
c.82A>G (p.Lys28Glu)
9g.94620334T>GCA374108475FBP1c.328A>C (p.Lys110Gln)
c.226A>C (p.Lys76Gln)
c.76A>C (p.Lys26Gln)
c.82A>C (p.Lys28Gln)
9g.94620335C>ACA5136291FBP1c.327G>T (p.Glu109Asp)
c.225G>T (p.Glu75Asp)
c.75G>T (p.Glu25Asp)
c.81G>T (p.Glu27Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620335C=CA1865239869FBP1c.327G= (p.Glu109=)
c.225G= (p.Glu75=)
c.75G= (p.Glu25=)
c.81G= (p.Glu27=)
9g.94620335C>GCA374108476FBP1c.327G>C (p.Glu109Asp)
c.225G>C (p.Glu75Asp)
c.75G>C (p.Glu25Asp)
c.81G>C (p.Glu27Asp)
9g.94620335C>TCA466102886FBP1c.327G>A (p.Glu109=)
c.225G>A (p.Glu75=)
c.75G>A (p.Glu25=)
c.81G>A (p.Glu27=)
9g.94620336T>ACA374108477FBP1c.326A>T (p.Glu109Val)
c.224A>T (p.Glu75Val)
c.74A>T (p.Glu25Val)
c.80A>T (p.Glu27Val)
9g.94620336T>CCA374108478FBP1c.326A>G (p.Glu109Gly)
c.224A>G (p.Glu75Gly)
c.74A>G (p.Glu25Gly)
c.80A>G (p.Glu27Gly)
9g.94620336T>GCA374108479FBP1c.326A>C (p.Glu109Ala)
c.224A>C (p.Glu75Ala)
c.74A>C (p.Glu25Ala)
c.80A>C (p.Glu27Ala)
9g.94620337C>ACA374108482FBP1c.325G>T (p.Glu109Ter)
c.223G>T (p.Glu75Ter)
c.73G>T (p.Glu25Ter)
c.79G>T (p.Glu27Ter)
 ClinVar
9g.94620337C=CA1865239872FBP1c.325G= (p.Glu109=)
c.223G= (p.Glu75=)
c.73G= (p.Glu25=)
c.79G= (p.Glu27=)
9g.94620337C>GCA374108480FBP1c.325G>C (p.Glu109Gln)
c.223G>C (p.Glu75Gln)
c.73G>C (p.Glu25Gln)
c.79G>C (p.Glu27Gln)
 dbSNP gnomAD v4
9g.94620337C>TCA374108481FBP1c.325G>A (p.Glu109Lys)
c.223G>A (p.Glu75Lys)
c.73G>A (p.Glu25Lys)
c.79G>A (p.Glu27Lys)
9g.94620338C>ACA466102887FBP1c.324G>T (p.Pro108=)
c.222G>T (p.Pro74=)
c.72G>T (p.Pro24=)
c.78G>T (p.Pro26=)
9g.94620338C=CA1865239879FBP1c.324G= (p.Pro108=)
c.222G= (p.Pro74=)
c.72G= (p.Pro24=)
c.78G= (p.Pro26=)
9g.94620338C>GCA466102888FBP1c.324G>C (p.Pro108=)
c.222G>C (p.Pro74=)
c.72G>C (p.Pro24=)
c.78G>C (p.Pro26=)
9g.94620338C>TCA5136292FBP1c.324G>A (p.Pro108=)
c.222G>A (p.Pro74=)
c.72G>A (p.Pro24=)
c.78G>A (p.Pro26=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620339G>ACA5136293FBP1c.323C>T (p.Pro108Leu)
c.221C>T (p.Pro74Leu)
c.71C>T (p.Pro24Leu)
c.77C>T (p.Pro26Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620339G>CCA374108483FBP1c.323C>G (p.Pro108Arg)
c.221C>G (p.Pro74Arg)
c.71C>G (p.Pro24Arg)
c.77C>G (p.Pro26Arg)
 gnomAD v4
9g.94620339G=CA1865239884FBP1c.323C= (p.Pro108=)
c.221C= (p.Pro74=)
c.71C= (p.Pro24=)
c.77C= (p.Pro26=)
9g.94620339G>TCA374108484FBP1c.323C>A (p.Pro108Gln)
c.221C>A (p.Pro74Gln)
c.71C>A (p.Pro24Gln)
c.77C>A (p.Pro26Gln)
9g.94620340G>ACA374108485FBP1c.322C>T (p.Pro108Ser)
c.220C>T (p.Pro74Ser)
c.70C>T (p.Pro24Ser)
c.76C>T (p.Pro26Ser)
 gnomAD v4 COSMIC
9g.94620340G>CCA374108486FBP1c.322C>G (p.Pro108Ala)
c.220C>G (p.Pro74Ala)
c.70C>G (p.Pro24Ala)
c.76C>G (p.Pro26Ala)
 gnomAD v4
9g.94620340G>TCA374108487FBP1c.322C>A (p.Pro108Thr)
c.220C>A (p.Pro74Thr)
c.70C>A (p.Pro24Thr)
c.76C>A (p.Pro26Thr)
 gnomAD v4
9g.94620341T>ACA374108489FBP1c.321A>T (p.Glu107Asp)
c.219A>T (p.Glu73Asp)
c.69A>T (p.Glu23Asp)
c.75A>T (p.Glu25Asp)
9g.94620341T>CCA466102889FBP1c.321A>G (p.Glu107=)
c.219A>G (p.Glu73=)
c.69A>G (p.Glu23=)
c.75A>G (p.Glu25=)
9g.94620341T>GCA374108488FBP1c.321A>C (p.Glu107Asp)
c.219A>C (p.Glu73Asp)
c.69A>C (p.Glu23Asp)
c.75A>C (p.Glu25Asp)
9g.94620342T>ACA374108490FBP1c.320A>T (p.Glu107Val)
c.218A>T (p.Glu73Val)
c.68A>T (p.Glu23Val)
c.74A>T (p.Glu25Val)
9g.94620342T>CCA374108491FBP1c.320A>G (p.Glu107Gly)
c.218A>G (p.Glu73Gly)
c.68A>G (p.Glu23Gly)
c.74A>G (p.Glu25Gly)
9g.94620342T>GCA374108492FBP1c.320A>C (p.Glu107Ala)
c.218A>C (p.Glu73Ala)
c.68A>C (p.Glu23Ala)
c.74A>C (p.Glu25Ala)
9g.94620343C>ACA374108493FBP1c.319G>T (p.Glu107Ter)
c.217G>T (p.Glu73Ter)
c.67G>T (p.Glu23Ter)
c.73G>T (p.Glu25Ter)
9g.94620343C>GCA374108494FBP1c.319G>C (p.Glu107Gln)
c.217G>C (p.Glu73Gln)
c.67G>C (p.Glu23Gln)
c.73G>C (p.Glu25Gln)
9g.94620343C>TCA374108495FBP1c.319G>A (p.Glu107Lys)
c.217G>A (p.Glu73Lys)
c.67G>A (p.Glu23Lys)
c.73G>A (p.Glu25Lys)
9g.94620344C>ACA466102890FBP1c.318G>T (p.Val106=)
c.216G>T (p.Val72=)
c.66G>T (p.Val22=)
c.72G>T (p.Val24=)
9g.94620344C=CA1865239891FBP1c.318G= (p.Val106=)
c.216G= (p.Val72=)
c.66G= (p.Val22=)
c.72G= (p.Val24=)
9g.94620344C>GCA466102891FBP1c.318G>C (p.Val106=)
c.216G>C (p.Val72=)
c.66G>C (p.Val22=)
c.72G>C (p.Val24=)
9g.94620344C>TCA196564301FBP1c.318G>A (p.Val106=)
c.216G>A (p.Val72=)
c.66G>A (p.Val22=)
c.72G>A (p.Val24=)
 dbSNP
9g.94620345A>CCA374108496FBP1c.317T>G (p.Val106Gly)
c.215T>G (p.Val72Gly)
c.65T>G (p.Val22Gly)
c.71T>G (p.Val24Gly)
9g.94620345A>GCA374108498FBP1c.317T>C (p.Val106Ala)
c.215T>C (p.Val72Ala)
c.65T>C (p.Val22Ala)
c.71T>C (p.Val24Ala)
9g.94620345A>TCA374108497FBP1c.317T>A (p.Val106Glu)
c.215T>A (p.Val72Glu)
c.65T>A (p.Val22Glu)
c.71T>A (p.Val24Glu)
9g.94620346C>ACA374108499FBP1c.316G>T (p.Val106Leu)
c.214G>T (p.Val72Leu)
c.64G>T (p.Val22Leu)
c.70G>T (p.Val24Leu)
9g.94620346C>GCA374108500FBP1c.316G>C (p.Val106Leu)
c.214G>C (p.Val72Leu)
c.64G>C (p.Val22Leu)
c.70G>C (p.Val24Leu)
9g.94620346C>TCA374108501FBP1c.316G>A (p.Val106Met)
c.214G>A (p.Val72Met)
c.64G>A (p.Val22Met)
c.70G>A (p.Val24Met)
 gnomAD v4
9g.94620347T>ACA466102892FBP1c.315A>T (p.Ile105=)
c.213A>T (p.Ile71=)
c.63A>T (p.Ile21=)
c.69A>T (p.Ile23=)
9g.94620347T>CCA374108502FBP1c.315A>G (p.Ile105Met)
c.213A>G (p.Ile71Met)
c.63A>G (p.Ile21Met)
c.69A>G (p.Ile23Met)
9g.94620347T>GCA466102893FBP1c.315A>C (p.Ile105=)
c.213A>C (p.Ile71=)
c.63A>C (p.Ile21=)
c.69A>C (p.Ile23=)
9g.94620348A=CA1865239895FBP1c.314T= (p.Ile105=)
c.212T= (p.Ile71=)
c.62T= (p.Ile21=)
c.68T= (p.Ile23=)
9g.94620348A>CCA374108503FBP1c.314T>G (p.Ile105Arg)
c.212T>G (p.Ile71Arg)
c.62T>G (p.Ile21Arg)
c.68T>G (p.Ile23Arg)
9g.94620348A>GCA374108504FBP1c.314T>C (p.Ile105Thr)
c.212T>C (p.Ile71Thr)
c.62T>C (p.Ile21Thr)
c.68T>C (p.Ile23Thr)
 gnomAD v4
9g.94620348A>TCA374108505FBP1c.314T>A (p.Ile105Lys)
c.212T>A (p.Ile71Lys)
c.62T>A (p.Ile21Lys)
c.68T>A (p.Ile23Lys)
 dbSNP gnomAD v3 gnomAD v4
9g.94620351_94620353dupCA2690769021FBP1c.312_314dup (p.Ile105_Val106insIle)
c.210_212dup (p.Ile71_Val72insIle)
c.60_62dup (p.Ile21_Val22insIle)
c.66_68dup (p.Ile23_Val24insIle)
 gnomAD v4
9g.94620349T>ACA374108506FBP1c.313A>T (p.Ile105Leu)
c.211A>T (p.Ile71Leu)
c.61A>T (p.Ile21Leu)
c.67A>T (p.Ile23Leu)
 gnomAD v4
9g.94620349T>CCA5136294FBP1c.313A>G (p.Ile105Val)
c.211A>G (p.Ile71Val)
c.61A>G (p.Ile21Val)
c.67A>G (p.Ile23Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620349T>GCA374108507FBP1c.313A>C (p.Ile105Leu)
c.211A>C (p.Ile71Leu)
c.61A>C (p.Ile21Leu)
c.67A>C (p.Ile23Leu)
9g.94620349T=CA1865239900FBP1c.313A= (p.Ile105=)
c.211A= (p.Ile71=)
c.61A= (p.Ile21=)
c.67A= (p.Ile23=)
9g.94620350G>ACA466102894FBP1c.312C>T (p.Ile104=)
c.210C>T (p.Ile70=)
c.60C>T (p.Ile20=)
c.66C>T (p.Ile22=)
 ClinVar
9g.94620350G>CCA374108508FBP1c.312C>G (p.Ile104Met)
c.210C>G (p.Ile70Met)
c.60C>G (p.Ile20Met)
c.66C>G (p.Ile22Met)
9g.94620350G=CA1865239904FBP1c.312C= (p.Ile104=)
c.210C= (p.Ile70=)
c.60C= (p.Ile20=)
c.66C= (p.Ile22=)
9g.94620350G>TCA466102895FBP1c.312C>A (p.Ile104=)
c.210C>A (p.Ile70=)
c.60C>A (p.Ile20=)
c.66C>A (p.Ile22=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.94620351A>CCA374108509FBP1c.311T>G (p.Ile104Ser)
c.209T>G (p.Ile70Ser)
c.59T>G (p.Ile20Ser)
c.65T>G (p.Ile22Ser)
9g.94620351A>GCA374108511FBP1c.311T>C (p.Ile104Thr)
c.209T>C (p.Ile70Thr)
c.59T>C (p.Ile20Thr)
c.65T>C (p.Ile22Thr)
9g.94620351A>TCA374108510FBP1c.311T>A (p.Ile104Asn)
c.209T>A (p.Ile70Asn)
c.59T>A (p.Ile20Asn)
c.65T>A (p.Ile22Asn)
9g.94620352T>ACA374108512FBP1c.310A>T (p.Ile104Phe)
c.208A>T (p.Ile70Phe)
c.58A>T (p.Ile20Phe)
c.64A>T (p.Ile22Phe)
9g.94620352T>CCA374108513FBP1c.310A>G (p.Ile104Val)
c.208A>G (p.Ile70Val)
c.58A>G (p.Ile20Val)
c.64A>G (p.Ile22Val)
 gnomAD v4
9g.94620352T>GCA374108514FBP1c.310A>C (p.Ile104Leu)
c.208A>C (p.Ile70Leu)
c.58A>C (p.Ile20Leu)
c.64A>C (p.Ile22Leu)
9g.94620353G>ACA466102896FBP1c.309C>T (p.Ala103=)
c.207C>T (p.Ala69=)
c.57C>T (p.Ala19=)
c.63C>T (p.Ala21=)
9g.94620353G>CCA466102897FBP1c.309C>G (p.Ala103=)
c.207C>G (p.Ala69=)
c.57C>G (p.Ala19=)
c.63C>G (p.Ala21=)
9g.94620353G=CA1865239913FBP1c.309C= (p.Ala103=)
c.207C= (p.Ala69=)
c.57C= (p.Ala19=)
c.63C= (p.Ala21=)
9g.94620353G>TCA5136295FBP1c.309C>A (p.Ala103=)
c.207C>A (p.Ala69=)
c.57C>A (p.Ala19=)
c.63C>A (p.Ala21=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94620354G>ACA374108515FBP1c.308C>T (p.Ala103Val)
c.206C>T (p.Ala69Val)
c.56C>T (p.Ala19Val)
c.62C>T (p.Ala21Val)
 dbSNP gnomAD v2 gnomAD v4
9g.94620354G>CCA374108516FBP1c.308C>G (p.Ala103Gly)
c.206C>G (p.Ala69Gly)
c.56C>G (p.Ala19Gly)
c.62C>G (p.Ala21Gly)
 gnomAD v4
9g.94620354G=CA1865239920FBP1c.308C= (p.Ala103=)
c.206C= (p.Ala69=)
c.56C= (p.Ala19=)
c.62C= (p.Ala21=)
9g.94620354G>TCA374108517FBP1c.308C>A (p.Ala103Asp)
c.206C>A (p.Ala69Asp)
c.56C>A (p.Ala19Asp)
c.62C>A (p.Ala21Asp)
9g.94620355C>ACA374108518FBP1c.307G>T (p.Ala103Ser)
c.205G>T (p.Ala69Ser)
c.55G>T (p.Ala19Ser)
c.61G>T (p.Ala21Ser)
 gnomAD v4
9g.94620355C=CA1865239925FBP1c.307G= (p.Ala103=)
c.205G= (p.Ala69=)
c.55G= (p.Ala19=)
c.61G= (p.Ala21=)
9g.94620355C>GCA374108519FBP1c.307G>C (p.Ala103Pro)
c.205G>C (p.Ala69Pro)
c.55G>C (p.Ala19Pro)
c.61G>C (p.Ala21Pro)
9g.94620355C>TCA5136296FBP1c.307G>A (p.Ala103Thr)
c.205G>A (p.Ala69Thr)
c.55G>A (p.Ala19Thr)
c.61G>A (p.Ala21Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620356G>ACA5136297FBP1c.306C>T (p.His102=)
c.204C>T (p.His68=)
c.54C>T (p.His18=)
c.60C>T (p.His20=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620356G>CCA374108520FBP1c.306C>G (p.His102Gln)
c.204C>G (p.His68Gln)
c.54C>G (p.His18Gln)
c.60C>G (p.His20Gln)
9g.94620356G=CA1865239931FBP1c.306C= (p.His102=)
c.204C= (p.His68=)
c.54C= (p.His18=)
c.60C= (p.His20=)
9g.94620356G>TCA374108521FBP1c.306C>A (p.His102Gln)
c.204C>A (p.His68Gln)
c.54C>A (p.His18Gln)
c.60C>A (p.His20Gln)
9g.94620357T>ACA374108524FBP1c.305A>T (p.His102Leu)
c.203A>T (p.His68Leu)
c.53A>T (p.His18Leu)
c.59A>T (p.His20Leu)
9g.94620357T>CCA374108523FBP1c.305A>G (p.His102Arg)
c.203A>G (p.His68Arg)
c.53A>G (p.His18Arg)
c.59A>G (p.His20Arg)
9g.94620357T>GCA374108522FBP1c.305A>C (p.His102Pro)
c.203A>C (p.His68Pro)
c.53A>C (p.His18Pro)
c.59A>C (p.His20Pro)
9g.94620358G>ACA374108525FBP1c.304C>T (p.His102Tyr)
c.202C>T (p.His68Tyr)
c.52C>T (p.His18Tyr)
c.58C>T (p.His20Tyr)
 gnomAD v4
9g.94620358G>CCA374108526FBP1c.304C>G (p.His102Asp)
c.202C>G (p.His68Asp)
c.52C>G (p.His18Asp)
c.58C>G (p.His20Asp)
 gnomAD v4
9g.94620358G>TCA374108527FBP1c.304C>A (p.His102Asn)
c.202C>A (p.His68Asn)
c.52C>A (p.His18Asn)
c.58C>A (p.His20Asn)
9g.94620359T>ACA374108528FBP1c.303A>T (p.Lys101Asn)
c.201A>T (p.Lys67Asn)
c.51A>T (p.Lys17Asn)
c.57A>T (p.Lys19Asn)
9g.94620359T>CCA5136298FBP1c.303A>G (p.Lys101=)
c.201A>G (p.Lys67=)
c.51A>G (p.Lys17=)
c.57A>G (p.Lys19=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94620359T>GCA374108529FBP1c.303A>C (p.Lys101Asn)
c.201A>C (p.Lys67Asn)
c.51A>C (p.Lys17Asn)
c.57A>C (p.Lys19Asn)
9g.94620359T=CA1865239938FBP1c.303A= (p.Lys101=)
c.201A= (p.Lys67=)
c.51A= (p.Lys17=)
c.57A= (p.Lys19=)
9g.94620360T>ACA374108530FBP1c.302A>T (p.Lys101Ile)
c.200A>T (p.Lys67Ile)
c.50A>T (p.Lys17Ile)
c.56A>T (p.Lys19Ile)
9g.94620360T>CCA374108531FBP1c.302A>G (p.Lys101Arg)
c.200A>G (p.Lys67Arg)
c.50A>G (p.Lys17Arg)
c.56A>G (p.Lys19Arg)
9g.94620360T>GCA374108532FBP1c.302A>C (p.Lys101Thr)
c.200A>C (p.Lys67Thr)
c.50A>C (p.Lys17Thr)
c.56A>C (p.Lys19Thr)
9g.94620361T>ACA374108533FBP1c.301A>T (p.Lys101Ter)
c.199A>T (p.Lys67Ter)
c.49A>T (p.Lys17Ter)
c.55A>T (p.Lys19Ter)
9g.94620361T>CCA374108534FBP1c.301A>G (p.Lys101Glu)
c.199A>G (p.Lys67Glu)
c.49A>G (p.Lys17Glu)
c.55A>G (p.Lys19Glu)
9g.94620361T>GCA374108535FBP1c.301A>C (p.Lys101Gln)
c.199A>C (p.Lys67Gln)
c.49A>C (p.Lys17Gln)
c.55A>C (p.Lys19Gln)
9g.94620362A=CA1865239942FBP1c.300T= (p.Asp100=)
c.198T= (p.Asp66=)
c.48T= (p.Asp16=)
c.54T= (p.Asp18=)
9g.94620362A>CCA374108536FBP1c.300T>G (p.Asp100Glu)
c.198T>G (p.Asp66Glu)
c.48T>G (p.Asp16Glu)
c.54T>G (p.Asp18Glu)
 dbSNP
9g.94620362A>GCA466102898FBP1c.300T>C (p.Asp100=)
c.198T>C (p.Asp66=)
c.48T>C (p.Asp16=)
c.54T>C (p.Asp18=)
9g.94620362A>TCA374108537FBP1c.300T>A (p.Asp100Glu)
c.198T>A (p.Asp66Glu)
c.48T>A (p.Asp16Glu)
c.54T>A (p.Asp18Glu)
9g.94620363T>ACA374108539FBP1c.299A>T (p.Asp100Val)
c.197A>T (p.Asp66Val)
c.47A>T (p.Asp16Val)
c.53A>T (p.Asp18Val)
9g.94620363T>CCA374108540FBP1c.299A>G (p.Asp100Gly)
c.197A>G (p.Asp66Gly)
c.47A>G (p.Asp16Gly)
c.53A>G (p.Asp18Gly)
 gnomAD v4
9g.94620363T>GCA374108538FBP1c.299A>C (p.Asp100Ala)
c.197A>C (p.Asp66Ala)
c.47A>C (p.Asp16Ala)
c.53A>C (p.Asp18Ala)
9g.94620369_94620371delCA2690769022FBP1c.297_299del (p.Glu99del)
c.195_197del (p.Glu65del)
c.45_47del (p.Glu15del)
c.51_53del (p.Glu17del)
 gnomAD v4
9g.94620364C>ACA374108541FBP1c.298G>T (p.Asp100Tyr)
c.196G>T (p.Asp66Tyr)
c.46G>T (p.Asp16Tyr)
c.52G>T (p.Asp18Tyr)
9g.94620364C>GCA374108542FBP1c.298G>C (p.Asp100His)
c.196G>C (p.Asp66His)
c.46G>C (p.Asp16His)
c.52G>C (p.Asp18His)
9g.94620364C>TCA374108543FBP1c.298G>A (p.Asp100Asn)
c.196G>A (p.Asp66Asn)
c.46G>A (p.Asp16Asn)
c.52G>A (p.Asp18Asn)
9g.94620365T>ACA374108544FBP1c.297A>T (p.Glu99Asp)
c.195A>T (p.Glu65Asp)
c.45A>T (p.Glu15Asp)
c.51A>T (p.Glu17Asp)
9g.94620365T>CCA466102899FBP1c.297A>G (p.Glu99=)
c.195A>G (p.Glu65=)
c.45A>G (p.Glu15=)
c.51A>G (p.Glu17=)
 gnomAD v4
9g.94620365T>GCA374108545FBP1c.297A>C (p.Glu99Asp)
c.195A>C (p.Glu65Asp)
c.45A>C (p.Glu15Asp)
c.51A>C (p.Glu17Asp)
9g.94620366T>ACA374108546FBP1c.296A>T (p.Glu99Val)
c.194A>T (p.Glu65Val)
c.44A>T (p.Glu15Val)
c.50A>T (p.Glu17Val)
9g.94620366T>CCA374108547FBP1c.296A>G (p.Glu99Gly)
c.194A>G (p.Glu65Gly)
c.44A>G (p.Glu15Gly)
c.50A>G (p.Glu17Gly)
9g.94620366T>GCA374108548FBP1c.296A>C (p.Glu99Ala)
c.194A>C (p.Glu65Ala)
c.44A>C (p.Glu15Ala)
c.50A>C (p.Glu17Ala)
9g.94620367C>ACA374108549FBP1c.295G>T (p.Glu99Ter)
c.193G>T (p.Glu65Ter)
c.43G>T (p.Glu15Ter)
c.49G>T (p.Glu17Ter)
9g.94620367C>GCA374108550FBP1c.295G>C (p.Glu99Gln)
c.193G>C (p.Glu65Gln)
c.43G>C (p.Glu15Gln)
c.49G>C (p.Glu17Gln)
9g.94620367C>TCA374108551FBP1c.295G>A (p.Glu99Lys)
c.193G>A (p.Glu65Lys)
c.43G>A (p.Glu15Lys)
c.49G>A (p.Glu17Lys)
9g.94620368T>ACA374108552FBP1c.294A>T (p.Glu98Asp)
c.192A>T (p.Glu64Asp)
c.42A>T (p.Glu14Asp)
c.48A>T (p.Glu16Asp)
9g.94620368T>CCA466102900FBP1c.294A>G (p.Glu98=)
c.192A>G (p.Glu64=)
c.42A>G (p.Glu14=)
c.48A>G (p.Glu16=)
 gnomAD v4
9g.94620368T>GCA374108553FBP1c.294A>C (p.Glu98Asp)
c.192A>C (p.Glu64Asp)
c.42A>C (p.Glu14Asp)
c.48A>C (p.Glu16Asp)
9g.94620369T>ACA374108554FBP1c.293A>T (p.Glu98Val)
c.191A>T (p.Glu64Val)
c.41A>T (p.Glu14Val)
c.47A>T (p.Glu16Val)
 gnomAD v4
9g.94620369T>CCA374108556FBP1c.293A>G (p.Glu98Gly)
c.191A>G (p.Glu64Gly)
c.41A>G (p.Glu14Gly)
c.47A>G (p.Glu16Gly)
9g.94620369T>GCA374108555FBP1c.293A>C (p.Glu98Ala)
c.191A>C (p.Glu64Ala)
c.41A>C (p.Glu14Ala)
c.47A>C (p.Glu16Ala)
9g.94620370C>ACA374108557FBP1c.292G>T (p.Glu98Ter)
c.190G>T (p.Glu64Ter)
c.40G>T (p.Glu14Ter)
c.46G>T (p.Glu16Ter)
9g.94620370C>GCA374108558FBP1c.292G>C (p.Glu98Gln)
c.190G>C (p.Glu64Gln)
c.40G>C (p.Glu14Gln)
c.46G>C (p.Glu16Gln)
9g.94620370C>TCA374108559FBP1c.292G>A (p.Glu98Lys)
c.190G>A (p.Glu64Lys)
c.40G>A (p.Glu14Lys)
c.46G>A (p.Glu16Lys)
 gnomAD v4
9g.94620371T>ACA466102901FBP1c.291A>T (p.Ser97=)
c.189A>T (p.Ser63=)
c.39A>T (p.Ser13=)
c.45A>T (p.Ser15=)
9g.94620371T>CCA466102902FBP1c.291A>G (p.Ser97=)
c.189A>G (p.Ser63=)
c.39A>G (p.Ser13=)
c.45A>G (p.Ser15=)
9g.94620371T>GCA466102903FBP1c.291A>C (p.Ser97=)
c.189A>C (p.Ser63=)
c.39A>C (p.Ser13=)
c.45A>C (p.Ser15=)
9g.94620372G>ACA374108560FBP1c.290C>T (p.Ser97Leu)
c.188C>T (p.Ser63Leu)
c.38C>T (p.Ser13Leu)
c.44C>T (p.Ser15Leu)
9g.94620372G>CCA374108561FBP1c.290C>G (p.Ser97Ter)
c.188C>G (p.Ser63Ter)
c.38C>G (p.Ser13Ter)
c.44C>G (p.Ser15Ter)
9g.94620372G>TCA374108562FBP1c.290C>A (p.Ser97Ter)
c.188C>A (p.Ser63Ter)
c.38C>A (p.Ser13Ter)
c.44C>A (p.Ser15Ter)
9g.94620373A>CCA374108563FBP1c.289T>G (p.Ser97Ala)
c.187T>G (p.Ser63Ala)
c.37T>G (p.Ser13Ala)
c.43T>G (p.Ser15Ala)
9g.94620373A>GCA374108564FBP1c.289T>C (p.Ser97Pro)
c.187T>C (p.Ser63Pro)
c.37T>C (p.Ser13Pro)
c.43T>C (p.Ser15Pro)
9g.94620373A>TCA374108565FBP1c.289T>A (p.Ser97Thr)
c.187T>A (p.Ser63Thr)
c.37T>A (p.Ser13Thr)
c.43T>A (p.Ser15Thr)
9g.94620377_94620384delCA2739269359FBP1c.282_289del (p.Leu95ArgfsTer4)
c.180_187del (p.Leu61ArgfsTer4)
c.30_37del (p.Leu11ArgfsTer4)
c.36_43del (p.Leu13ArgfsTer4)
 ClinVar
9g.94620374C>ACA5136299FBP1c.288G>T (p.Val96=)
c.186G>T (p.Val62=)
c.36G>T (p.Val12=)
c.42G>T (p.Val14=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620374C=CA1865239944FBP1c.288G= (p.Val96=)
c.186G= (p.Val62=)
c.36G= (p.Val12=)
c.42G= (p.Val14=)
9g.94620374C>GCA466102904FBP1c.288G>C (p.Val96=)
c.186G>C (p.Val62=)
c.36G>C (p.Val12=)
c.42G>C (p.Val14=)
 dbSNP
9g.94620374C>TCA466102905FBP1c.288G>A (p.Val96=)
c.186G>A (p.Val62=)
c.36G>A (p.Val12=)
c.42G>A (p.Val14=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94620375A>CCA374108566FBP1c.287T>G (p.Val96Gly)
c.185T>G (p.Val62Gly)
c.35T>G (p.Val12Gly)
c.41T>G (p.Val14Gly)
9g.94620375A>GCA374108568FBP1c.287T>C (p.Val96Ala)
c.185T>C (p.Val62Ala)
c.35T>C (p.Val12Ala)
c.41T>C (p.Val14Ala)
 gnomAD v4
9g.94620375A>TCA374108567FBP1c.287T>A (p.Val96Glu)
c.185T>A (p.Val62Glu)
c.35T>A (p.Val12Glu)
c.41T>A (p.Val14Glu)
9g.94620376C>ACA374108569FBP1c.286G>T (p.Val96Leu)
c.184G>T (p.Val62Leu)
c.34G>T (p.Val12Leu)
c.40G>T (p.Val14Leu)
9g.94620376C=CA1865239948FBP1c.286G= (p.Val96=)
c.184G= (p.Val62=)
c.34G= (p.Val12=)
c.40G= (p.Val14=)
9g.94620376C>GCA374108570FBP1c.286G>C (p.Val96Leu)
c.184G>C (p.Val62Leu)
c.34G>C (p.Val12Leu)
c.40G>C (p.Val14Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.94620376C>TCA196564354FBP1c.286G>A (p.Val96Met)
c.184G>A (p.Val62Met)
c.34G>A (p.Val12Met)
c.40G>A (p.Val14Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94620377G>ACA5136300FBP1c.285C>T (p.Leu95=)
c.183C>T (p.Leu61=)
c.33C>T (p.Leu11=)
c.39C>T (p.Leu13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620377G>CCA466102906FBP1c.285C>G (p.Leu95=)
c.183C>G (p.Leu61=)
c.33C>G (p.Leu11=)
c.39C>G (p.Leu13=)
9g.94620377G=CA1865239955FBP1c.285C= (p.Leu95=)
c.183C= (p.Leu61=)
c.33C= (p.Leu11=)
c.39C= (p.Leu13=)
9g.94620377G>TCA466102907FBP1c.285C>A (p.Leu95=)
c.183C>A (p.Leu61=)
c.33C>A (p.Leu11=)
c.39C>A (p.Leu13=)
9g.94620378A>CCA374108571FBP1c.284T>G (p.Leu95Arg)
c.182T>G (p.Leu61Arg)
c.32T>G (p.Leu11Arg)
c.38T>G (p.Leu13Arg)
9g.94620378A>GCA374108572FBP1c.284T>C (p.Leu95Pro)
c.182T>C (p.Leu61Pro)
c.32T>C (p.Leu11Pro)
c.38T>C (p.Leu13Pro)
9g.94620378A>TCA374108573FBP1c.284T>A (p.Leu95His)
c.182T>A (p.Leu61His)
c.32T>A (p.Leu11His)
c.38T>A (p.Leu13His)
9g.94620379G>ACA374108574FBP1c.283C>T (p.Leu95Phe)
c.181C>T (p.Leu61Phe)
c.31C>T (p.Leu11Phe)
c.37C>T (p.Leu13Phe)
9g.94620379G>CCA374108575FBP1c.283C>G (p.Leu95Val)
c.181C>G (p.Leu61Val)
c.31C>G (p.Leu11Val)
c.37C>G (p.Leu13Val)
9g.94620379G>TCA374108576FBP1c.283C>A (p.Leu95Ile)
c.181C>A (p.Leu61Ile)
c.31C>A (p.Leu11Ile)
c.37C>A (p.Leu13Ile)
9g.94620380A>CCA466102908FBP1c.282T>G (p.Val94=)
c.180T>G (p.Val60=)
c.30T>G (p.Val10=)
c.36T>G (p.Val12=)
9g.94620380A>GCA466102909FBP1c.282T>C (p.Val94=)
c.180T>C (p.Val60=)
c.30T>C (p.Val10=)
c.36T>C (p.Val12=)
9g.94620380A>TCA466102910FBP1c.282T>A (p.Val94=)
c.180T>A (p.Val60=)
c.30T>A (p.Val10=)
c.36T>A (p.Val12=)
9g.94620381A>CCA374108577FBP1c.281T>G (p.Val94Gly)
c.179T>G (p.Val60Gly)
c.29T>G (p.Val10Gly)
c.35T>G (p.Val12Gly)
9g.94620381A>GCA374108578FBP1c.281T>C (p.Val94Ala)
c.179T>C (p.Val60Ala)
c.29T>C (p.Val10Ala)
c.35T>C (p.Val12Ala)
9g.94620381A>TCA374108579FBP1c.281T>A (p.Val94Asp)
c.179T>A (p.Val60Asp)
c.29T>A (p.Val10Asp)
c.35T>A (p.Val12Asp)
9g.94620382C>ACA374108580FBP1c.280G>T (p.Val94Phe)
c.178G>T (p.Val60Phe)
c.28G>T (p.Val10Phe)
c.34G>T (p.Val12Phe)
9g.94620382C=CA1865239960FBP1c.280G= (p.Val94=)
c.178G= (p.Val60=)
c.28G= (p.Val10=)
c.34G= (p.Val12=)
9g.94620382C>GCA374108581FBP1c.280G>C (p.Val94Leu)
c.178G>C (p.Val60Leu)
c.28G>C (p.Val10Leu)
c.34G>C (p.Val12Leu)
9g.94620382C>TCA374108582FBP1c.280G>A (p.Val94Ile)
c.178G>A (p.Val60Ile)
c.28G>A (p.Val10Ile)
c.34G>A (p.Val12Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94620383A>CCA374108583FBP1c.279T>G (p.Cys93Trp)
c.177T>G (p.Cys59Trp)
c.27T>G (p.Cys9Trp)
c.33T>G (p.Cys11Trp)
9g.94620383A>GCA466102911FBP1c.279T>C (p.Cys93=)
c.177T>C (p.Cys59=)
c.27T>C (p.Cys9=)
c.33T>C (p.Cys11=)
9g.94620383A>TCA374108584FBP1c.279T>A (p.Cys93Ter)
c.177T>A (p.Cys59Ter)
c.27T>A (p.Cys9Ter)
c.33T>A (p.Cys11Ter)
9g.94620384C>ACA374108585FBP1c.278G>T (p.Cys93Phe)
c.176G>T (p.Cys59Phe)
c.26G>T (p.Cys9Phe)
c.32G>T (p.Cys11Phe)
9g.94620384C=CA1865239963FBP1c.278G= (p.Cys93=)
c.176G= (p.Cys59=)
c.26G= (p.Cys9=)
c.32G= (p.Cys11=)
9g.94620384C>GCA374108586FBP1c.278G>C (p.Cys93Ser)
c.176G>C (p.Cys59Ser)
c.26G>C (p.Cys9Ser)
c.32G>C (p.Cys11Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.94620384C>TCA374108587FBP1c.278G>A (p.Cys93Tyr)
c.176G>A (p.Cys59Tyr)
c.26G>A (p.Cys9Tyr)
c.32G>A (p.Cys11Tyr)
 gnomAD v4
9g.94620385A>CCA374108588FBP1c.277T>G (p.Cys93Gly)
c.175T>G (p.Cys59Gly)
c.25T>G (p.Cys9Gly)
c.31T>G (p.Cys11Gly)
9g.94620385A>GCA374108589FBP1c.277T>C (p.Cys93Arg)
c.175T>C (p.Cys59Arg)
c.25T>C (p.Cys9Arg)
c.31T>C (p.Cys11Arg)
9g.94620385A>TCA374108590FBP1c.277T>A (p.Cys93Ser)
c.175T>A (p.Cys59Ser)
c.25T>A (p.Cys9Ser)
c.31T>A (p.Cys11Ser)
9g.94620386C>ACA290918FBP1c.276G>T (p.Thr92=)
c.174G>T (p.Thr58=)
c.24G>T (p.Thr8=)
c.30G>T (p.Thr10=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620386C=CA1865239969FBP1c.276G= (p.Thr92=)
c.174G= (p.Thr58=)
c.24G= (p.Thr8=)
c.30G= (p.Thr10=)
9g.94620386C>GCA466102912FBP1c.276G>C (p.Thr92=)
c.174G>C (p.Thr58=)
c.24G>C (p.Thr8=)
c.30G>C (p.Thr10=)
9g.94620386C>TCA5136301FBP1c.276G>A (p.Thr92=)
c.174G>A (p.Thr58=)
c.24G>A (p.Thr8=)
c.30G>A (p.Thr10=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620387G>ACA319998FBP1c.275C>T (p.Thr92Met)
c.173C>T (p.Thr58Met)
c.23C>T (p.Thr8Met)
c.29C>T (p.Thr10Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94620387G>CCA374108591FBP1c.275C>G (p.Thr92Arg)
c.173C>G (p.Thr58Arg)
c.23C>G (p.Thr8Arg)
c.29C>G (p.Thr10Arg)
9g.94620387G=CA1865239977FBP1c.275C= (p.Thr92=)
c.173C= (p.Thr58=)
c.23C= (p.Thr8=)
c.29C= (p.Thr10=)
9g.94620387G>TCA374108592FBP1c.275C>A (p.Thr92Lys)
c.173C>A (p.Thr58Lys)
c.23C>A (p.Thr8Lys)
c.29C>A (p.Thr10Lys)
 dbSNP gnomAD v4
9g.94620388T>ACA374108593FBP1c.274A>T (p.Thr92Ser)
c.172A>T (p.Thr58Ser)
c.22A>T (p.Thr8Ser)
c.28A>T (p.Thr10Ser)
9g.94620388T>CCA374108594FBP1c.274A>G (p.Thr92Ala)
c.172A>G (p.Thr58Ala)
c.22A>G (p.Thr8Ala)
c.28A>G (p.Thr10Ala)
9g.94620388T>GCA374108595FBP1c.274A>C (p.Thr92Pro)
c.172A>C (p.Thr58Pro)
c.22A>C (p.Thr8Pro)
c.28A>C (p.Thr10Pro)
9g.94620389G>ACA466102914FBP1c.273C>T (p.Ala91=)
c.171C>T (p.Ala57=)
c.21C>T (p.Ala7=)
c.27C>T (p.Ala9=)
9g.94620389G>CCA466102915FBP1c.273C>G (p.Ala91=)
c.171C>G (p.Ala57=)
c.21C>G (p.Ala7=)
c.27C>G (p.Ala9=)
9g.94620389G>TCA466102913FBP1c.273C>A (p.Ala91=)
c.171C>A (p.Ala57=)
c.21C>A (p.Ala7=)
c.27C>A (p.Ala9=)
9g.94620390G>ACA374108596FBP1c.272C>T (p.Ala91Val)
c.170C>T (p.Ala57Val)
c.20C>T (p.Ala7Val)
c.26C>T (p.Ala9Val)
9g.94620390G>CCA374108598FBP1c.272C>G (p.Ala91Gly)
c.170C>G (p.Ala57Gly)
c.20C>G (p.Ala7Gly)
c.26C>G (p.Ala9Gly)
9g.94620390G>TCA374108597FBP1c.272C>A (p.Ala91Asp)
c.170C>A (p.Ala57Asp)
c.20C>A (p.Ala7Asp)
c.26C>A (p.Ala9Asp)
9g.94620391C>ACA196564427FBP1c.271G>T (p.Ala91Ser)
c.169G>T (p.Ala57Ser)
c.19G>T (p.Ala7Ser)
c.25G>T (p.Ala9Ser)
 ClinVar dbSNP
9g.94620391C=CA1865239988FBP1c.271G= (p.Ala91=)
c.169G= (p.Ala57=)
c.19G= (p.Ala7=)
c.25G= (p.Ala9=)
9g.94620391C>GCA374108599FBP1c.271G>C (p.Ala91Pro)
c.169G>C (p.Ala57Pro)
c.19G>C (p.Ala7Pro)
c.25G>C (p.Ala9Pro)
9g.94620391C>TCA374108600FBP1c.271G>A (p.Ala91Thr)
c.169G>A (p.Ala57Thr)
c.19G>A (p.Ala7Thr)
c.25G>A (p.Ala9Thr)
9g.94620392A>CCA374108601FBP1c.270T>G (p.Phe90Leu)
c.168T>G (p.Phe56Leu)
c.18T>G (p.Phe6Leu)
c.24T>G (p.Phe8Leu)
9g.94620392A>GCA466102917FBP1c.270T>C (p.Phe90=)
c.168T>C (p.Phe56=)
c.18T>C (p.Phe6=)
c.24T>C (p.Phe8=)
9g.94620392A>TCA374108602FBP1c.270T>A (p.Phe90Leu)
c.168T>A (p.Phe56Leu)
c.18T>A (p.Phe6Leu)
c.24T>A (p.Phe8Leu)
9g.94620393A>CCA374108605FBP1c.269T>G (p.Phe90Cys)
c.167T>G (p.Phe56Cys)
c.17T>G (p.Phe6Cys)
c.23T>G (p.Phe8Cys)
9g.94620393A>GCA374108604FBP1c.269T>C (p.Phe90Ser)
c.167T>C (p.Phe56Ser)
c.17T>C (p.Phe6Ser)
c.23T>C (p.Phe8Ser)
9g.94620393A>TCA374108603FBP1c.269T>A (p.Phe90Tyr)
c.167T>A (p.Phe56Tyr)
c.17T>A (p.Phe6Tyr)
c.23T>A (p.Phe8Tyr)
9g.94620394A>CCA374108606FBP1c.268T>G (p.Phe90Val)
c.166T>G (p.Phe56Val)
c.16T>G (p.Phe6Val)
c.22T>G (p.Phe8Val)
9g.94620394A>GCA374108607FBP1c.268T>C (p.Phe90Leu)
c.166T>C (p.Phe56Leu)
c.16T>C (p.Phe6Leu)
c.22T>C (p.Phe8Leu)
9g.94620394A>TCA374108608FBP1c.268T>A (p.Phe90Ile)
c.166T>A (p.Phe56Ile)
c.16T>A (p.Phe6Ile)
c.22T>A (p.Phe8Ile)
9g.94620394_94620395delinsAGCA1865239991FBP1c.267_268delinsCT (p.Ser89=)
c.165_166delinsCT (p.Ser55=)
c.15_16delinsCT (p.Ser5=)
c.21_22delinsCT (p.Ser7=)
9g.94620395G>ACA466102918FBP1c.267C>T (p.Ser89=)
c.165C>T (p.Ser55=)
c.15C>T (p.Ser5=)
c.21C>T (p.Ser7=)
 gnomAD v4 COSMIC
9g.94620395G>CCA466102920FBP1c.267C>G (p.Ser89=)
c.165C>G (p.Ser55=)
c.15C>G (p.Ser5=)
c.21C>G (p.Ser7=)
9g.94620395G>TCA466102919FBP1c.267C>A (p.Ser89=)
c.165C>A (p.Ser55=)
c.15C>A (p.Ser5=)
c.21C>A (p.Ser7=)
9g.94620396delCA645294052FBP1c.267del (p.Phe90LeufsTer16)
c.165del (p.Phe56LeufsTer16)
c.15del (p.Phe6LeufsTer16)
c.21del (p.Phe8LeufsTer16)
 ClinVar dbSNP
9g.94620396G>ACA374108609FBP1c.266C>T (p.Ser89Phe)
c.164C>T (p.Ser55Phe)
c.14C>T (p.Ser5Phe)
c.20C>T (p.Ser7Phe)
 gnomAD v4
9g.94620396G>CCA374108610FBP1c.266C>G (p.Ser89Cys)
c.164C>G (p.Ser55Cys)
c.14C>G (p.Ser5Cys)
c.20C>G (p.Ser7Cys)
9g.94620396G>TCA374108611FBP1c.266C>A (p.Ser89Tyr)
c.164C>A (p.Ser55Tyr)
c.14C>A (p.Ser5Tyr)
c.20C>A (p.Ser7Tyr)
 gnomAD v4
9g.94620397A>CCA374108612FBP1c.265T>G (p.Ser89Ala)
c.163T>G (p.Ser55Ala)
c.13T>G (p.Ser5Ala)
c.19T>G (p.Ser7Ala)
9g.94620397A>GCA374108614FBP1c.265T>C (p.Ser89Pro)
c.163T>C (p.Ser55Pro)
c.13T>C (p.Ser5Pro)
c.19T>C (p.Ser7Pro)
9g.94620397A>TCA374108613FBP1c.265T>A (p.Ser89Thr)
c.163T>A (p.Ser55Thr)
c.13T>A (p.Ser5Thr)
c.19T>A (p.Ser7Thr)
 gnomAD v4

Number of alleles fetched