Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94609995_94610002delinsAGCCGGCTCA1865228012FBP1c.486_493delinsAGCCGGCT (p.Ala162=)
c.291_298delinsAGCCGGCT (p.Ala97=)
c.234_241delinsAGCCGGCT (p.Ala78=)
c.240_247delinsAGCCGGCT (p.Ala80=)
9g.94609999_94610005delCA1126932144FBP1c.486_492del (p.Ala163ThrfsTer?)
c.291_297del (p.Ala98ThrfsTer?)
c.234_240del (p.Ala79ThrfsTer?)
c.240_246del (p.Ala81ThrfsTer?)
 dbSNP gnomAD v3 gnomAD v4
9g.94609998C>ACA374107762FBP1c.490G>T (p.Gly164Cys)
c.295G>T (p.Gly99Cys)
c.238G>T (p.Gly80Cys)
c.244G>T (p.Gly82Cys)
9g.94609998C=CA1865228013FBP1c.490G= (p.Gly164=)
c.295G= (p.Gly99=)
c.238G= (p.Gly80=)
c.244G= (p.Gly82=)
9g.94609998C>GCA374107763FBP1c.490G>C (p.Gly164Arg)
c.295G>C (p.Gly99Arg)
c.238G>C (p.Gly80Arg)
c.244G>C (p.Gly82Arg)
 dbSNP
9g.94609998C>TCA114584FBP1c.490G>A (p.Gly164Ser)
c.295G>A (p.Gly99Ser)
c.238G>A (p.Gly80Ser)
c.244G>A (p.Gly82Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94609999G>ACA5136215FBP1c.489C>T (p.Ala163=)
c.294C>T (p.Ala98=)
c.237C>T (p.Ala79=)
c.243C>T (p.Ala81=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94609999G>CCA466100861FBP1c.489C>G (p.Ala163=)
c.294C>G (p.Ala98=)
c.237C>G (p.Ala79=)
c.243C>G (p.Ala81=)
9g.94609999G=CA1865228014FBP1c.489C= (p.Ala163=)
c.294C= (p.Ala98=)
c.237C= (p.Ala79=)
c.243C= (p.Ala81=)
9g.94609999G>TCA466100862FBP1c.489C>A (p.Ala163=)
c.294C>A (p.Ala98=)
c.237C>A (p.Ala79=)
c.243C>A (p.Ala81=)
 COSMIC
9g.94610000G>ACA374107766FBP1c.488C>T (p.Ala163Val)
c.293C>T (p.Ala98Val)
c.236C>T (p.Ala79Val)
c.242C>T (p.Ala81Val)
9g.94610000G>CCA374107765FBP1c.488C>G (p.Ala163Gly)
c.293C>G (p.Ala98Gly)
c.236C>G (p.Ala79Gly)
c.242C>G (p.Ala81Gly)
9g.94610000G>TCA374107764FBP1c.488C>A (p.Ala163Asp)
c.293C>A (p.Ala98Asp)
c.236C>A (p.Ala79Asp)
c.242C>A (p.Ala81Asp)
9g.94610001C>ACA374107767FBP1c.487G>T (p.Ala163Ser)
c.292G>T (p.Ala98Ser)
c.235G>T (p.Ala79Ser)
c.241G>T (p.Ala81Ser)
9g.94610001C>GCA374107768FBP1c.487G>C (p.Ala163Pro)
c.292G>C (p.Ala98Pro)
c.235G>C (p.Ala79Pro)
c.241G>C (p.Ala81Pro)
9g.94610001C>TCA374107769FBP1c.487G>A (p.Ala163Thr)
c.292G>A (p.Ala98Thr)
c.235G>A (p.Ala79Thr)
c.241G>A (p.Ala81Thr)
 gnomAD v4
9g.94610002T>ACA466100863FBP1c.486A>T (p.Ala162=)
c.291A>T (p.Ala97=)
c.234A>T (p.Ala78=)
c.240A>T (p.Ala80=)
9g.94610002T>CCA466100864FBP1c.486A>G (p.Ala162=)
c.291A>G (p.Ala97=)
c.234A>G (p.Ala78=)
c.240A>G (p.Ala80=)
 gnomAD v4
9g.94610002T>GCA466100865FBP1c.486A>C (p.Ala162=)
c.291A>C (p.Ala97=)
c.234A>C (p.Ala78=)
c.240A>C (p.Ala80=)
9g.94610003G>ACA196556114FBP1c.485C>T (p.Ala162Val)
c.290C>T (p.Ala97Val)
c.233C>T (p.Ala78Val)
c.239C>T (p.Ala80Val)
 dbSNP
9g.94610003G>CCA374107770FBP1c.485C>G (p.Ala162Gly)
c.290C>G (p.Ala97Gly)
c.233C>G (p.Ala78Gly)
c.239C>G (p.Ala80Gly)
9g.94610003G=CA1865228015FBP1c.485C= (p.Ala162=)
c.290C= (p.Ala97=)
c.233C= (p.Ala78=)
c.239C= (p.Ala80=)
9g.94610003G>TCA374107771FBP1c.485C>A (p.Ala162Glu)
c.290C>A (p.Ala97Glu)
c.233C>A (p.Ala78Glu)
c.239C>A (p.Ala80Glu)
9g.94610004C>ACA374107772FBP1c.484G>T (p.Ala162Ser)
c.289G>T (p.Ala97Ser)
c.232G>T (p.Ala78Ser)
c.238G>T (p.Ala80Ser)
 dbSNP
9g.94610004C=CA1865228016FBP1c.484G= (p.Ala162=)
c.289G= (p.Ala97=)
c.232G= (p.Ala78=)
c.238G= (p.Ala80=)
9g.94610004C>GCA374107773FBP1c.484G>C (p.Ala162Pro)
c.289G>C (p.Ala97Pro)
c.232G>C (p.Ala78Pro)
c.238G>C (p.Ala80Pro)
9g.94610004C>TCA374107774FBP1c.484G>A (p.Ala162Thr)
c.289G>A (p.Ala97Thr)
c.232G>A (p.Ala78Thr)
c.238G>A (p.Ala80Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.94610005C>ACA466100866FBP1c.483G>T (p.Val161=)
c.288G>T (p.Val96=)
c.231G>T (p.Val77=)
c.237G>T (p.Val79=)
9g.94610005C>GCA466100867FBP1c.483G>C (p.Val161=)
c.288G>C (p.Val96=)
c.231G>C (p.Val77=)
c.237G>C (p.Val79=)
9g.94610005C>TCA466100868FBP1c.483G>A (p.Val161=)
c.288G>A (p.Val96=)
c.231G>A (p.Val77=)
c.237G>A (p.Val79=)
 gnomAD v4
9g.94610006A=CA1865228017FBP1c.482T= (p.Val161=)
c.287T= (p.Val96=)
c.230T= (p.Val77=)
c.236T= (p.Val79=)
9g.94610006A>CCA374107775FBP1c.482T>G (p.Val161Gly)
c.287T>G (p.Val96Gly)
c.230T>G (p.Val77Gly)
c.236T>G (p.Val79Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.94610006A>GCA374107776FBP1c.482T>C (p.Val161Ala)
c.287T>C (p.Val96Ala)
c.230T>C (p.Val77Ala)
c.236T>C (p.Val79Ala)
9g.94610006A>TCA374107777FBP1c.482T>A (p.Val161Glu)
c.287T>A (p.Val96Glu)
c.230T>A (p.Val77Glu)
c.236T>A (p.Val79Glu)
9g.94610007C>ACA374107780FBP1c.481G>T (p.Val161Leu)
c.286G>T (p.Val96Leu)
c.229G>T (p.Val77Leu)
c.235G>T (p.Val79Leu)
9g.94610007C>GCA374107779FBP1c.481G>C (p.Val161Leu)
c.286G>C (p.Val96Leu)
c.229G>C (p.Val77Leu)
c.235G>C (p.Val79Leu)
9g.94610007C>TCA374107778FBP1c.481G>A (p.Val161Met)
c.286G>A (p.Val96Met)
c.229G>A (p.Val77Met)
c.235G>A (p.Val79Met)
9g.94610008delCA2690769535FBP1c.481del (p.Val161TrpfsTer?)
c.286del (p.Val96TrpfsTer?)
c.229del (p.Val77TrpfsTer?)
c.235del (p.Val79TrpfsTer?)
 gnomAD v4
9g.94610008C>ACA466100871FBP1c.480G>T (p.Leu160=)
c.285G>T (p.Leu95=)
c.228G>T (p.Leu76=)
c.234G>T (p.Leu78=)
9g.94610008C>GCA466100870FBP1c.480G>C (p.Leu160=)
c.285G>C (p.Leu95=)
c.228G>C (p.Leu76=)
c.234G>C (p.Leu78=)
9g.94610008C>TCA466100869FBP1c.480G>A (p.Leu160=)
c.285G>A (p.Leu95=)
c.228G>A (p.Leu76=)
c.234G>A (p.Leu78=)
9g.94610009A>CCA374107781FBP1c.479T>G (p.Leu160Arg)
c.284T>G (p.Leu95Arg)
c.227T>G (p.Leu76Arg)
c.233T>G (p.Leu78Arg)
 ClinVar
9g.94610009A>GCA374107782FBP1c.479T>C (p.Leu160Pro)
c.284T>C (p.Leu95Pro)
c.227T>C (p.Leu76Pro)
c.233T>C (p.Leu78Pro)
9g.94610009A>TCA374107783FBP1c.479T>A (p.Leu160Gln)
c.284T>A (p.Leu95Gln)
c.227T>A (p.Leu76Gln)
c.233T>A (p.Leu78Gln)
9g.94610010G>ACA466100872FBP1c.478C>T (p.Leu160=)
c.283C>T (p.Leu95=)
c.226C>T (p.Leu76=)
c.232C>T (p.Leu78=)
9g.94610010G>CCA374107784FBP1c.478C>G (p.Leu160Val)
c.283C>G (p.Leu95Val)
c.226C>G (p.Leu76Val)
c.232C>G (p.Leu78Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94610010G=CA1865228018FBP1c.478C= (p.Leu160=)
c.283C= (p.Leu95=)
c.226C= (p.Leu76=)
c.232C= (p.Leu78=)
9g.94610010G>TCA5136216FBP1c.478C>A (p.Leu160Met)
c.283C>A (p.Leu95Met)
c.226C>A (p.Leu76Met)
c.232C>A (p.Leu78Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94610011G>ACA466100873FBP1c.477C>T (p.Asn159=)
c.282C>T (p.Asn94=)
c.225C>T (p.Asn75=)
c.231C>T (p.Asn77=)
 ClinVar gnomAD v4
9g.94610011G>CCA321578FBP1c.477C>G (p.Asn159Lys)
c.282C>G (p.Asn94Lys)
c.225C>G (p.Asn75Lys)
c.231C>G (p.Asn77Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched