Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94605552_94605562delinsGGGCCCCATAACA1865226061FBP1c.880_890delinsTTATGGGGCCC (n.880_890delinsTTATGGGGCCC)
c.720_730delinsTTATGGGGCCC (p.Pro240=)
c.525_535delinsTTATGGGGCCC (p.Pro175=)
c.474_484delinsTTATGGGGCCC (p.Pro158=)
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.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)
9g.94605559A=CA1865226065FBP1c.883T= (n.883T=)
c.723T= (p.Tyr241=)
c.528T= (p.Tyr176=)
c.477T= (p.Tyr159=)
9g.94605559A>CCA374106519FBP1c.883T>G (n.883T>G)
c.723T>G (p.Tyr241Ter)
c.528T>G (p.Tyr176Ter)
c.477T>G (p.Tyr159Ter)
ClinVar dbSNP
9g.94605559A>GCA466099857FBP1c.883T>C (n.883T>C)
c.723T>C (p.Tyr241=)
c.528T>C (p.Tyr176=)
c.477T>C (p.Tyr159=)
9g.94605559A>TCA5136138FBP1c.883T>A (n.883T>A)
c.723T>A (p.Tyr241Ter)
c.528T>A (p.Tyr176Ter)
c.477T>A (p.Tyr159Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605560T>ACA374106520FBP1c.882A>T (n.882A>T)
c.722A>T (p.Tyr241Phe)
c.527A>T (p.Tyr176Phe)
c.476A>T (p.Tyr159Phe)
9g.94605560T>CCA5136139FBP1c.882A>G (n.882A>G)
c.722A>G (p.Tyr241Cys)
c.527A>G (p.Tyr176Cys)
c.476A>G (p.Tyr159Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605560T>GCA374106521FBP1c.882A>C (n.882A>C)
c.722A>C (p.Tyr241Ser)
c.527A>C (p.Tyr176Ser)
c.476A>C (p.Tyr159Ser)
9g.94605560T=CA1865226066FBP1c.882A= (n.882A=)
c.722A= (p.Tyr241=)
c.527A= (p.Tyr176=)
c.476A= (p.Tyr159=)
9g.94605561A=CA1865226067FBP1c.881T= (n.881T=)
c.721T= (p.Tyr241=)
c.526T= (p.Tyr176=)
c.475T= (p.Tyr159=)
9g.94605561A>CCA374106523FBP1c.881T>G (n.881T>G)
c.721T>G (p.Tyr241Asp)
c.526T>G (p.Tyr176Asp)
c.475T>G (p.Tyr159Asp)
9g.94605561A>GCA5136140FBP1c.881T>C (n.881T>C)
c.721T>C (p.Tyr241His)
c.526T>C (p.Tyr176His)
c.475T>C (p.Tyr159His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605561A>TCA374106522FBP1c.881T>A (n.881T>A)
c.721T>A (p.Tyr241Asn)
c.526T>A (p.Tyr176Asn)
c.475T>A (p.Tyr159Asn)
9g.94605562A=CA1865226068FBP1c.880T= (n.880T=)
c.720T= (p.Pro240=)
c.525T= (p.Pro175=)
c.474T= (p.Pro158=)
9g.94605562A>CCA466099861FBP1c.880T>G (n.880T>G)
c.720T>G (p.Pro240=)
c.525T>G (p.Pro175=)
c.474T>G (p.Pro158=)
9g.94605562A>GCA466099865FBP1c.880T>C (n.880T>C)
c.720T>C (p.Pro240=)
c.525T>C (p.Pro175=)
c.474T>C (p.Pro158=)
dbSNP gnomAD v3 gnomAD v4
9g.94605562A>TCA466099866FBP1c.880T>A (n.880T>A)
c.720T>A (p.Pro240=)
c.525T>A (p.Pro175=)
c.474T>A (p.Pro158=)
9g.94605563G>ACA374106524FBP1c.879C>T (n.879C>T)
c.719C>T (p.Pro240Leu)
c.524C>T (p.Pro175Leu)
c.473C>T (p.Pro158Leu)
COSMIC
9g.94605563G>CCA374106525FBP1c.879C>G (n.879C>G)
c.719C>G (p.Pro240Arg)
c.524C>G (p.Pro175Arg)
c.473C>G (p.Pro158Arg)
9g.94605563G>TCA374106526FBP1c.879C>A (n.879C>A)
c.719C>A (p.Pro240His)
c.524C>A (p.Pro175His)
c.473C>A (p.Pro158His)
9g.94605564G>ACA374106527FBP1c.878C>T (n.878C>T)
c.718C>T (p.Pro240Ser)
c.523C>T (p.Pro175Ser)
c.472C>T (p.Pro158Ser)
gnomAD v4 COSMIC
9g.94605564G>CCA374106528FBP1c.878C>G (n.878C>G)
c.718C>G (p.Pro240Ala)
c.523C>G (p.Pro175Ala)
c.472C>G (p.Pro158Ala)
9g.94605564G>TCA374106529FBP1c.878C>A (n.878C>A)
c.718C>A (p.Pro240Thr)
c.523C>A (p.Pro175Thr)
c.472C>A (p.Pro158Thr)
9g.94605565A>CCA466099868FBP1c.877T>G (n.877T>G)
c.717T>G (p.Ala239=)
c.522T>G (p.Ala174=)
c.471T>G (p.Ala157=)
9g.94605565A>GCA466099869FBP1c.877T>C (n.877T>C)
c.717T>C (p.Ala239=)
c.522T>C (p.Ala174=)
c.471T>C (p.Ala157=)
9g.94605565A>TCA466099871FBP1c.877T>A (n.877T>A)
c.717T>A (p.Ala239=)
c.522T>A (p.Ala174=)
c.471T>A (p.Ala157=)
9g.94605566G>ACA374106530FBP1c.876C>T (n.876C>T)
c.716C>T (p.Ala239Val)
c.521C>T (p.Ala174Val)
c.470C>T (p.Ala157Val)
9g.94605566G>CCA374106531FBP1c.876C>G (n.876C>G)
c.716C>G (p.Ala239Gly)
c.521C>G (p.Ala174Gly)
c.470C>G (p.Ala157Gly)
9g.94605566G>TCA374106532FBP1c.876C>A (n.876C>A)
c.716C>A (p.Ala239Asp)
c.521C>A (p.Ala174Asp)
c.470C>A (p.Ala157Asp)
9g.94605567C>ACA374106533FBP1c.875G>T (n.875G>T)
c.715G>T (p.Ala239Ser)
c.520G>T (p.Ala174Ser)
c.469G>T (p.Ala157Ser)
9g.94605567C>GCA374106534FBP1c.875G>C (n.875G>C)
c.715G>C (p.Ala239Pro)
c.520G>C (p.Ala174Pro)
c.469G>C (p.Ala157Pro)
9g.94605567C>TCA374106535FBP1c.875G>A (n.875G>A)
c.715G>A (p.Ala239Thr)
c.520G>A (p.Ala174Thr)
c.469G>A (p.Ala157Thr)
gnomAD v4
9g.94605568T>ACA466099873FBP1c.874A>T (n.874A>T)
c.714A>T (p.Ser238=)
c.519A>T (p.Ser173=)
c.468A>T (p.Ser156=)

Number of alleles fetched