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.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.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=)
9g.94605568T>CCA466099875FBP1c.874A>G (n.874A>G)
c.714A>G (p.Ser238=)
c.519A>G (p.Ser173=)
c.468A>G (p.Ser156=)
9g.94605568T>GCA466099876FBP1c.874A>C (n.874A>C)
c.714A>C (p.Ser238=)
c.519A>C (p.Ser173=)
c.468A>C (p.Ser156=)
9g.94605569G>ACA374106537FBP1c.873C>T (n.873C>T)
c.713C>T (p.Ser238Leu)
c.518C>T (p.Ser173Leu)
c.467C>T (p.Ser156Leu)
COSMIC
9g.94605569G>CCA374106538FBP1c.873C>G (n.873C>G)
c.713C>G (p.Ser238Ter)
c.518C>G (p.Ser173Ter)
c.467C>G (p.Ser156Ter)
9g.94605569G>TCA374106536FBP1c.873C>A (n.873C>A)
c.713C>A (p.Ser238Ter)
c.518C>A (p.Ser173Ter)
c.467C>A (p.Ser156Ter)
9g.94605570A>CCA374106539FBP1c.872T>G (n.872T>G)
c.712T>G (p.Ser238Ala)
c.517T>G (p.Ser173Ala)
c.466T>G (p.Ser156Ala)
9g.94605570A>GCA374106541FBP1c.872T>C (n.872T>C)
c.712T>C (p.Ser238Pro)
c.517T>C (p.Ser173Pro)
c.466T>C (p.Ser156Pro)
gnomAD v4
9g.94605570A>TCA374106540FBP1c.872T>A (n.872T>A)
c.712T>A (p.Ser238Thr)
c.517T>A (p.Ser173Thr)
c.466T>A (p.Ser156Thr)
9g.94605571A>CCA374106542FBP1c.871T>G (n.871T>G)
c.711T>G (p.Asn237Lys)
c.516T>G (p.Asn172Lys)
c.465T>G (p.Asn155Lys)
9g.94605571A>GCA466099877FBP1c.871T>C (n.871T>C)
c.711T>C (p.Asn237=)
c.516T>C (p.Asn172=)
c.465T>C (p.Asn155=)
9g.94605571A>TCA374106543FBP1c.871T>A (n.871T>A)
c.711T>A (p.Asn237Lys)
c.516T>A (p.Asn172Lys)
c.465T>A (p.Asn155Lys)
9g.94605572T>ACA374106544FBP1c.870A>T (n.870A>T)
c.710A>T (p.Asn237Ile)
c.515A>T (p.Asn172Ile)
c.464A>T (p.Asn155Ile)
COSMIC
9g.94605572T>CCA374106545FBP1c.870A>G (n.870A>G)
c.710A>G (p.Asn237Ser)
c.515A>G (p.Asn172Ser)
c.464A>G (p.Asn155Ser)
dbSNP gnomAD v3 gnomAD v4
9g.94605572T>GCA374106546FBP1c.870A>C (n.870A>C)
c.710A>C (p.Asn237Thr)
c.515A>C (p.Asn172Thr)
c.464A>C (p.Asn155Thr)
9g.94605572T=CA1865226069FBP1c.870A= (n.870A=)
c.710A= (p.Asn237=)
c.515A= (p.Asn172=)
c.464A= (p.Asn155=)
9g.94605573T>ACA374106547FBP1c.869A>T (n.869A>T)
c.709A>T (p.Asn237Tyr)
c.514A>T (p.Asn172Tyr)
c.463A>T (p.Asn155Tyr)
9g.94605573T>CCA196552588FBP1c.869A>G (n.869A>G)
c.709A>G (p.Asn237Asp)
c.514A>G (p.Asn172Asp)
c.463A>G (p.Asn155Asp)
dbSNP
9g.94605573T>GCA374106548FBP1c.869A>C (n.869A>C)
c.709A>C (p.Asn237His)
c.514A>C (p.Asn172His)
c.463A>C (p.Asn155His)
9g.94605573T=CA1865226070FBP1c.869A= (n.869A=)
c.709A= (p.Asn237=)
c.514A= (p.Asn172=)
c.463A= (p.Asn155=)
9g.94605574A>CCA374106549FBP1c.868T>G (n.868T>G)
c.708T>G (p.Asp236Glu)
c.513T>G (p.Asp171Glu)
c.462T>G (p.Asp154Glu)
COSMIC
9g.94605574A>GCA466099878FBP1c.868T>C (n.868T>C)
c.708T>C (p.Asp236=)
c.513T>C (p.Asp171=)
c.462T>C (p.Asp154=)
gnomAD v4
9g.94605574A>TCA374106550FBP1c.868T>A (n.868T>A)
c.708T>A (p.Asp236Glu)
c.513T>A (p.Asp171Glu)
c.462T>A (p.Asp154Glu)
9g.94605575T>ACA374106551FBP1c.867A>T (n.867A>T)
c.707A>T (p.Asp236Val)
c.512A>T (p.Asp171Val)
c.461A>T (p.Asp154Val)
9g.94605575T>CCA374106552FBP1c.867A>G (n.867A>G)
c.707A>G (p.Asp236Gly)
c.512A>G (p.Asp171Gly)
c.461A>G (p.Asp154Gly)
dbSNP gnomAD v3 gnomAD v4
9g.94605575T>GCA374106553FBP1c.867A>C (n.867A>C)
c.707A>C (p.Asp236Ala)
c.512A>C (p.Asp171Ala)
c.461A>C (p.Asp154Ala)
gnomAD v4
9g.94605575T=CA1865226071FBP1c.867A= (n.867A=)
c.707A= (p.Asp236=)
c.512A= (p.Asp171=)
c.461A= (p.Asp154=)
9g.94605576C>ACA374106554FBP1c.866G>T (n.866G>T)
c.706G>T (p.Asp236Tyr)
c.511G>T (p.Asp171Tyr)
c.460G>T (p.Asp154Tyr)
9g.94605576C=CA1865226072FBP1c.866G= (n.866G=)
c.706G= (p.Asp236=)
c.511G= (p.Asp171=)
c.460G= (p.Asp154=)
9g.94605576C>GCA374106556FBP1c.866G>C (n.866G>C)
c.706G>C (p.Asp236His)
c.511G>C (p.Asp171His)
c.460G>C (p.Asp154His)
9g.94605576C>TCA374106555FBP1c.866G>A (n.866G>A)
c.706G>A (p.Asp236Asn)
c.511G>A (p.Asp171Asn)
c.460G>A (p.Asp154Asn)
dbSNP
9g.94605577C>ACA374106557FBP1c.866-1G>T (n.866-1G>T)
c.706-1G>T (n.706-1G>T)
c.511-1G>T (n.511-1G>T)
c.460-1G>T (n.460-1G>T)
9g.94605577C>GCA374106558FBP1c.866-1G>C (n.866-1G>C)
c.706-1G>C (n.706-1G>C)
c.511-1G>C (n.511-1G>C)
c.460-1G>C (n.460-1G>C)
9g.94605577C>TCA374106559FBP1c.866-1G>A (n.866-1G>A)
c.706-1G>A (n.706-1G>A)
c.511-1G>A (n.511-1G>A)
c.460-1G>A (n.460-1G>A)
gnomAD v4
9g.94605578T>ACA374106560FBP1c.866-2A>T (n.866-2A>T)
c.706-2A>T (n.706-2A>T)
c.511-2A>T (n.511-2A>T)
c.460-2A>T (n.460-2A>T)
9g.94605578T>CCA374106561FBP1c.866-2A>G (n.866-2A>G)
c.706-2A>G (n.706-2A>G)
c.511-2A>G (n.511-2A>G)
c.460-2A>G (n.460-2A>G)
9g.94605578T>GCA374106562FBP1c.866-2A>C (n.866-2A>C)
c.706-2A>C (n.706-2A>C)
c.511-2A>C (n.511-2A>C)
c.460-2A>C (n.460-2A>C)
9g.94605579G>TCA2690769177FBP1c.866-3C>A (n.866-3C>A)
c.706-3C>A (n.706-3C>A)
c.511-3C>A (n.511-3C>A)
c.460-3C>A (n.460-3C>A)
gnomAD v4
9g.94605580C>ACA589254551FBP1c.866-4G>T (n.866-4G>T)
c.706-4G>T (n.706-4G>T)
c.511-4G>T (n.511-4G>T)
c.460-4G>T (n.460-4G>T)
dbSNP gnomAD v2
9g.94605580C=CA1865226073FBP1c.866-4G= (n.866-4G=)
c.706-4G= (n.706-4G=)
c.511-4G= (n.511-4G=)
c.460-4G= (n.460-4G=)
9g.94605580C>TCA589254552FBP1c.866-4G>A (n.866-4G>A)
c.706-4G>A (n.706-4G>A)
c.511-4G>A (n.511-4G>A)
c.460-4G>A (n.460-4G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94605581A>GCA2579387213FBP1c.866-5T>C (n.866-5T>C)
c.706-5T>C (n.706-5T>C)
c.511-5T>C (n.511-5T>C)
c.460-5T>C (n.460-5T>C)
gnomAD v4
9g.94605582_94605583delCA2690769178FBP1c.866-7_866-6del (n.866-7_866-6del)
c.706-7_706-6del (n.706-7_706-6del)
c.511-7_511-6del (n.511-7_511-6del)
c.460-7_460-6del (n.460-7_460-6del)
gnomAD v4
9g.94605583G>ACA5136141FBP1c.866-7C>T (n.866-7C>T)
c.706-7C>T (n.706-7C>T)
c.511-7C>T (n.511-7C>T)
c.460-7C>T (n.460-7C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605583G>CCA1865226075FBP1c.866-7C>G (n.866-7C>G)
c.706-7C>G (n.706-7C>G)
c.511-7C>G (n.511-7C>G)
c.460-7C>G (n.460-7C>G)
dbSNP
9g.94605583G=CA1865226074FBP1c.866-7C= (n.866-7C=)
c.706-7C= (n.706-7C=)
c.511-7C= (n.511-7C=)
c.460-7C= (n.460-7C=)
9g.94605584_94605585insACA2690769179FBP1c.866-9_866-8insT (n.866-9_866-8insT)
c.706-9_706-8insT (n.706-9_706-8insT)
c.511-9_511-8insT (n.511-9_511-8insT)
c.460-9_460-8insT (n.460-9_460-8insT)
gnomAD v4
9g.94605585T>GCA5136142FBP1c.866-9A>C (n.866-9A>C)
c.706-9A>C (n.706-9A>C)
c.511-9A>C (n.511-9A>C)
c.460-9A>C (n.460-9A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605585T=CA1865226076FBP1c.866-9A= (n.866-9A=)
c.706-9A= (n.706-9A=)
c.511-9A= (n.511-9A=)
c.460-9A= (n.460-9A=)
9g.94605586A=CA1865226077FBP1c.866-10T= (n.866-10T=)
c.706-10T= (n.706-10T=)
c.511-10T= (n.511-10T=)
c.460-10T= (n.460-10T=)
9g.94605586A>GCA1126930268FBP1c.866-10T>C (n.866-10T>C)
c.706-10T>C (n.706-10T>C)
c.511-10T>C (n.511-10T>C)
c.460-10T>C (n.460-10T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.94605587A=CA1865226078FBP1c.866-11T= (n.866-11T=)
c.706-11T= (n.706-11T=)
c.511-11T= (n.511-11T=)
c.460-11T= (n.460-11T=)
9g.94605587A>TCA196552610FBP1c.866-11T>A (n.866-11T>A)
c.706-11T>A (n.706-11T>A)
c.511-11T>A (n.511-11T>A)
c.460-11T>A (n.460-11T>A)
ClinVar dbSNP gnomAD v4
9g.94605588G>CCA2739269403FBP1c.866-12C>G (n.866-12C>G)
c.706-12C>G (n.706-12C>G)
c.511-12C>G (n.511-12C>G)
c.460-12C>G (n.460-12C>G)
ClinVar
9g.94605590C>ACA2579387214FBP1c.866-14G>T (n.866-14G>T)
c.706-14G>T (n.706-14G>T)
c.511-14G>T (n.511-14G>T)
c.460-14G>T (n.460-14G>T)
gnomAD v4
9g.94605591C=CA1865226079FBP1c.866-15G= (n.866-15G=)
c.706-15G= (n.706-15G=)
c.511-15G= (n.511-15G=)
c.460-15G= (n.460-15G=)
9g.94605591C>TCA1126930281FBP1c.866-15G>A (n.866-15G>A)
c.706-15G>A (n.706-15G>A)
c.511-15G>A (n.511-15G>A)
c.460-15G>A (n.460-15G>A)
dbSNP gnomAD v3 gnomAD v4
9g.94605592A=CA1865226080FBP1c.866-16T= (n.866-16T=)
c.706-16T= (n.706-16T=)
c.511-16T= (n.511-16T=)
c.460-16T= (n.460-16T=)
9g.94605592A>GCA5136143FBP1c.866-16T>C (n.866-16T>C)
c.706-16T>C (n.706-16T>C)
c.511-16T>C (n.511-16T>C)
c.460-16T>C (n.460-16T>C)
dbSNP ExAC gnomAD v2
9g.94605594delCA2690769180FBP1c.866-18del (n.866-18del)
c.706-18del (n.706-18del)
c.511-18del (n.511-18del)
c.460-18del (n.460-18del)
gnomAD v4
9g.94605594C>ACA2579387215FBP1c.866-18G>T (n.866-18G>T)
c.706-18G>T (n.706-18G>T)
c.511-18G>T (n.511-18G>T)
c.460-18G>T (n.460-18G>T)
9g.94605600T>CCA2690769181FBP1c.866-24A>G (n.866-24A>G)
c.706-24A>G (n.706-24A>G)
c.511-24A>G (n.511-24A>G)
c.460-24A>G (n.460-24A>G)
gnomAD v4
9g.94605600T>GCA196552624FBP1c.866-24A>C (n.866-24A>C)
c.706-24A>C (n.706-24A>C)
c.511-24A>C (n.511-24A>C)
c.460-24A>C (n.460-24A>C)
dbSNP
9g.94605600T=CA1865226081FBP1c.866-24A= (n.866-24A=)
c.706-24A= (n.706-24A=)
c.511-24A= (n.511-24A=)
c.460-24A= (n.460-24A=)
9g.94605601T>CCA1126930282FBP1c.866-25A>G (n.866-25A>G)
c.706-25A>G (n.706-25A>G)
c.511-25A>G (n.511-25A>G)
c.460-25A>G (n.460-25A>G)
dbSNP gnomAD v3 gnomAD v4
9g.94605601T>GCA2690769182FBP1c.866-25A>C (n.866-25A>C)
c.706-25A>C (n.706-25A>C)
c.511-25A>C (n.511-25A>C)
c.460-25A>C (n.460-25A>C)
gnomAD v4
9g.94605601T=CA1865226082FBP1c.866-25A= (n.866-25A=)
c.706-25A= (n.706-25A=)
c.511-25A= (n.511-25A=)
c.460-25A= (n.460-25A=)
9g.94605603G>ACA5136144FBP1c.866-27C>T (n.866-27C>T)
c.706-27C>T (n.706-27C>T)
c.511-27C>T (n.511-27C>T)
c.460-27C>T (n.460-27C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605603G=CA1865226083FBP1c.866-27C= (n.866-27C=)
c.706-27C= (n.706-27C=)
c.511-27C= (n.511-27C=)
c.460-27C= (n.460-27C=)
9g.94605606T>ACA2690769183FBP1c.866-30A>T (n.866-30A>T)
c.706-30A>T (n.706-30A>T)
c.511-30A>T (n.511-30A>T)
c.460-30A>T (n.460-30A>T)
gnomAD v4
9g.94605608G>ACA2690769184FBP1c.866-32C>T (n.866-32C>T)
c.706-32C>T (n.706-32C>T)
c.511-32C>T (n.511-32C>T)
c.460-32C>T (n.460-32C>T)
gnomAD v4
9g.94605609C>TCA2690769185FBP1c.866-33G>A (n.866-33G>A)
c.706-33G>A (n.706-33G>A)
c.511-33G>A (n.511-33G>A)
c.460-33G>A (n.460-33G>A)
gnomAD v4
9g.94605612A=CA1865226084FBP1c.866-36T= (n.866-36T=)
c.706-36T= (n.706-36T=)
c.511-36T= (n.511-36T=)
c.460-36T= (n.460-36T=)
9g.94605612A>GCA589254553FBP1c.866-36T>C (n.866-36T>C)
c.706-36T>C (n.706-36T>C)
c.511-36T>C (n.511-36T>C)
c.460-36T>C (n.460-36T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94605613A=CA1865226085FBP1c.866-37T= (n.866-37T=)
c.706-37T= (n.706-37T=)
c.511-37T= (n.511-37T=)
c.460-37T= (n.460-37T=)
9g.94605613A>GCA868727459FBP1c.866-37T>C (n.866-37T>C)
c.706-37T>C (n.706-37T>C)
c.511-37T>C (n.511-37T>C)
c.460-37T>C (n.460-37T>C)
dbSNP
9g.94605613A>TCA589254554FBP1c.866-37T>A (n.866-37T>A)
c.706-37T>A (n.706-37T>A)
c.511-37T>A (n.511-37T>A)
c.460-37T>A (n.460-37T>A)
dbSNP gnomAD v2 gnomAD v4
9g.94605614A=CA1865226086FBP1c.866-38T= (n.866-38T=)
c.706-38T= (n.706-38T=)
c.511-38T= (n.511-38T=)
c.460-38T= (n.460-38T=)
9g.94605614A>CCA1865226087FBP1c.866-38T>G (n.866-38T>G)
c.706-38T>G (n.706-38T>G)
c.511-38T>G (n.511-38T>G)
c.460-38T>G (n.460-38T>G)
dbSNP
9g.94605615_94605619delinsATAAGCA1865226088FBP1c.866-43_866-39delinsCTTAT (n.866-43_866-39delinsCTTAT)
c.706-43_706-39delinsCTTAT (n.706-43_706-39delinsCTTAT)
c.511-43_511-39delinsCTTAT (n.511-43_511-39delinsCTTAT)
c.460-43_460-39delinsCTTAT (n.460-43_460-39delinsCTTAT)
9g.94605616T>CCA1865226091FBP1c.866-40A>G (n.866-40A>G)
c.706-40A>G (n.706-40A>G)
c.511-40A>G (n.511-40A>G)
c.460-40A>G (n.460-40A>G)
dbSNP gnomAD v4
9g.94605616T=CA1865226090FBP1c.866-40A= (n.866-40A=)
c.706-40A= (n.706-40A=)
c.511-40A= (n.511-40A=)
c.460-40A= (n.460-40A=)
9g.94605616_94605619delCA589254555FBP1c.866-43_866-40del (n.866-43_866-40del)
c.706-43_706-40del (n.706-43_706-40del)
c.511-43_511-40del (n.511-43_511-40del)
c.460-43_460-40del (n.460-43_460-40del)
dbSNP gnomAD v2 gnomAD v4
9g.94605616_94605620delinsTAAGACA1865226089FBP1c.866-44_866-40delinsTCTTA (n.866-44_866-40delinsTCTTA)
c.706-44_706-40delinsTCTTA (n.706-44_706-40delinsTCTTA)
c.511-44_511-40delinsTCTTA (n.511-44_511-40delinsTCTTA)
c.460-44_460-40delinsTCTTA (n.460-44_460-40delinsTCTTA)
9g.94605617A>GCA2690769186FBP1c.866-41T>C (n.866-41T>C)
c.706-41T>C (n.706-41T>C)
c.511-41T>C (n.511-41T>C)
c.460-41T>C (n.460-41T>C)
gnomAD v4
9g.94605621_94605624dupCA2720045486FBP1c.866-44_866-41dup (n.866-44_866-41dup)
c.706-44_706-41dup (n.706-44_706-41dup)
c.511-44_511-41dup (n.511-44_511-41dup)
c.460-44_460-41dup (n.460-44_460-41dup)
dbSNP
9g.94605621_94605624delCA5136145FBP1c.866-44_866-41del (n.866-44_866-41del)
c.706-44_706-41del (n.706-44_706-41del)
c.511-44_511-41del (n.511-44_511-41del)
c.460-44_460-41del (n.460-44_460-41del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605618A>CCA2690769187FBP1c.866-42T>G (n.866-42T>G)
c.706-42T>G (n.706-42T>G)
c.511-42T>G (n.511-42T>G)
c.460-42T>G (n.460-42T>G)
gnomAD v4
9g.94605620A=CA1865226092FBP1c.866-44T= (n.866-44T=)
c.706-44T= (n.706-44T=)
c.511-44T= (n.511-44T=)
c.460-44T= (n.460-44T=)
9g.94605620A>GCA2690769188FBP1c.866-44T>C (n.866-44T>C)
c.706-44T>C (n.706-44T>C)
c.511-44T>C (n.511-44T>C)
c.460-44T>C (n.460-44T>C)
gnomAD v4
9g.94605620A>TCA1865226093FBP1c.866-44T>A (n.866-44T>A)
c.706-44T>A (n.706-44T>A)
c.511-44T>A (n.511-44T>A)
c.460-44T>A (n.460-44T>A)
dbSNP
9g.94605621A>GCA2579387216FBP1c.866-45T>C (n.866-45T>C)
c.706-45T>C (n.706-45T>C)
c.511-45T>C (n.511-45T>C)
c.460-45T>C (n.460-45T>C)
9g.94605621A>TCA2579387217FBP1c.866-45T>A (n.866-45T>A)
c.706-45T>A (n.706-45T>A)
c.511-45T>A (n.511-45T>A)
c.460-45T>A (n.460-45T>A)
9g.94605621_94605623delinsAAGCA1865226094FBP1c.866-47_866-45delinsCTT (n.866-47_866-45delinsCTT)
c.706-47_706-45delinsCTT (n.706-47_706-45delinsCTT)
c.511-47_511-45delinsCTT (n.511-47_511-45delinsCTT)
c.460-47_460-45delinsCTT (n.460-47_460-45delinsCTT)
9g.94605622A=CA1865226095FBP1c.866-46T= (n.866-46T=)
c.706-46T= (n.706-46T=)
c.511-46T= (n.511-46T=)
c.460-46T= (n.460-46T=)
9g.94605622A>GCA5136147FBP1c.866-46T>C (n.866-46T>C)
c.706-46T>C (n.706-46T>C)
c.511-46T>C (n.511-46T>C)
c.460-46T>C (n.460-46T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605626_94605627delCA5136146FBP1c.866-47_866-46del (n.866-47_866-46del)
c.706-47_706-46del (n.706-47_706-46del)
c.511-47_511-46del (n.511-47_511-46del)
c.460-47_460-46del (n.460-47_460-46del)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605623G>CCA2690769189FBP1c.866-47C>G (n.866-47C>G)
c.706-47C>G (n.706-47C>G)
c.511-47C>G (n.511-47C>G)
c.460-47C>G (n.460-47C>G)
gnomAD v4
9g.94605624A=CA1865226096FBP1c.866-48T= (n.866-48T=)
c.706-48T= (n.706-48T=)
c.511-48T= (n.511-48T=)
c.460-48T= (n.460-48T=)
9g.94605624A>TCA589254556FBP1c.866-48T>A (n.866-48T>A)
c.706-48T>A (n.706-48T>A)
c.511-48T>A (n.511-48T>A)
c.460-48T>A (n.460-48T>A)
dbSNP gnomAD v2 gnomAD v4
9g.94605627G>ACA196552646FBP1c.866-51C>T (n.866-51C>T)
c.706-51C>T (n.706-51C>T)
c.511-51C>T (n.511-51C>T)
c.460-51C>T (n.460-51C>T)
dbSNP gnomAD v3 gnomAD v4
9g.94605627G>CCA5136148FBP1c.866-51C>G (n.866-51C>G)
c.706-51C>G (n.706-51C>G)
c.511-51C>G (n.511-51C>G)
c.460-51C>G (n.460-51C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.94605627G=CA1865226097FBP1c.866-51C= (n.866-51C=)
c.706-51C= (n.706-51C=)
c.511-51C= (n.511-51C=)
c.460-51C= (n.460-51C=)
9g.94605628T>CCA2690769190FBP1c.866-52A>G (n.866-52A>G)
c.706-52A>G (n.706-52A>G)
c.511-52A>G (n.511-52A>G)
c.460-52A>G (n.460-52A>G)
gnomAD v4
9g.94605631dupCA2785154736FBP1c.866-52dup (n.866-52dup)
c.706-52dup (n.706-52dup)
c.511-52dup (n.511-52dup)
c.460-52dup (n.460-52dup)
9g.94605630T>CCA2690769191FBP1c.866-54A>G (n.866-54A>G)
c.706-54A>G (n.706-54A>G)
c.511-54A>G (n.511-54A>G)
c.460-54A>G (n.460-54A>G)
gnomAD v4
9g.94605631T>GCA196552659FBP1c.866-55A>C (n.866-55A>C)
c.706-55A>C (n.706-55A>C)
c.511-55A>C (n.511-55A>C)
c.460-55A>C (n.460-55A>C)
dbSNP gnomAD v4
9g.94605631T=CA1865226098FBP1c.866-55A= (n.866-55A=)
c.706-55A= (n.706-55A=)
c.511-55A= (n.511-55A=)
c.460-55A= (n.460-55A=)
9g.94605633T>CCA1126930345FBP1c.866-57A>G (n.866-57A>G)
c.706-57A>G (n.706-57A>G)
c.511-57A>G (n.511-57A>G)
c.460-57A>G (n.460-57A>G)
dbSNP gnomAD v3 gnomAD v4
9g.94605633T=CA1865226099FBP1c.866-57A= (n.866-57A=)
c.706-57A= (n.706-57A=)
c.511-57A= (n.511-57A=)
c.460-57A= (n.460-57A=)
9g.94605634T>CCA2690769192FBP1c.866-58A>G (n.866-58A>G)
c.706-58A>G (n.706-58A>G)
c.511-58A>G (n.511-58A>G)
c.460-58A>G (n.460-58A>G)
gnomAD v4
9g.94605635G>ACA868727507FBP1c.866-59C>T (n.866-59C>T)
c.706-59C>T (n.706-59C>T)
c.511-59C>T (n.511-59C>T)
c.460-59C>T (n.460-59C>T)
dbSNP gnomAD v3 gnomAD v4
9g.94605635G=CA1865226100FBP1c.866-59C= (n.866-59C=)
c.706-59C= (n.706-59C=)
c.511-59C= (n.511-59C=)
c.460-59C= (n.460-59C=)
9g.94605635G>TCA589254558FBP1c.866-59C>A (n.866-59C>A)
c.706-59C>A (n.706-59C>A)
c.511-59C>A (n.511-59C>A)
c.460-59C>A (n.460-59C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94605636G>ACA868727511FBP1c.866-60C>T (n.866-60C>T)
c.706-60C>T (n.706-60C>T)
c.511-60C>T (n.511-60C>T)
c.460-60C>T (n.460-60C>T)
dbSNP gnomAD v4
9g.94605636G=CA1865226101FBP1c.866-60C= (n.866-60C=)
c.706-60C= (n.706-60C=)
c.511-60C= (n.511-60C=)
c.460-60C= (n.460-60C=)
9g.94605636G>TCA2690769193FBP1c.866-60C>A (n.866-60C>A)
c.706-60C>A (n.706-60C>A)
c.511-60C>A (n.511-60C>A)
c.460-60C>A (n.460-60C>A)
gnomAD v4
9g.94605638G>ACA1126930348FBP1c.866-62C>T (n.866-62C>T)
c.706-62C>T (n.706-62C>T)
c.511-62C>T (n.511-62C>T)
c.460-62C>T (n.460-62C>T)
dbSNP gnomAD v3 gnomAD v4
9g.94605638G=CA1865226102FBP1c.866-62C= (n.866-62C=)
c.706-62C= (n.706-62C=)
c.511-62C= (n.511-62C=)
c.460-62C= (n.460-62C=)
9g.94605638G>TCA2690769194FBP1c.866-62C>A (n.866-62C>A)
c.706-62C>A (n.706-62C>A)
c.511-62C>A (n.511-62C>A)
c.460-62C>A (n.460-62C>A)
gnomAD v4
9g.94605639T>ACA2690769195FBP1c.866-63A>T (n.866-63A>T)
c.706-63A>T (n.706-63A>T)
c.511-63A>T (n.511-63A>T)
c.460-63A>T (n.460-63A>T)
gnomAD v4
9g.94605640C>ACA196552666FBP1c.866-64G>T (n.866-64G>T)
c.706-64G>T (n.706-64G>T)
c.511-64G>T (n.511-64G>T)
c.460-64G>T (n.460-64G>T)
dbSNP gnomAD v4
9g.94605640C=CA1865226103FBP1c.866-64G= (n.866-64G=)
c.706-64G= (n.706-64G=)
c.511-64G= (n.511-64G=)
c.460-64G= (n.460-64G=)
9g.94605641T>CCA2690769196FBP1c.866-65A>G (n.866-65A>G)
c.706-65A>G (n.706-65A>G)
c.511-65A>G (n.511-65A>G)
c.460-65A>G (n.460-65A>G)
gnomAD v4
9g.94605642C>ACA2690769197FBP1c.866-66G>T (n.866-66G>T)
c.706-66G>T (n.706-66G>T)
c.511-66G>T (n.511-66G>T)
c.460-66G>T (n.460-66G>T)
gnomAD v4
9g.94605642C>GCA2690769198FBP1c.866-66G>C (n.866-66G>C)
c.706-66G>C (n.706-66G>C)
c.511-66G>C (n.511-66G>C)
c.460-66G>C (n.460-66G>C)
gnomAD v4
9g.94605643C=CA1865226104FBP1c.866-67G= (n.866-67G=)
c.706-67G= (n.706-67G=)
c.511-67G= (n.511-67G=)
c.460-67G= (n.460-67G=)
9g.94605643C>GCA196552671FBP1c.866-67G>C (n.866-67G>C)
c.706-67G>C (n.706-67G>C)
c.511-67G>C (n.511-67G>C)
c.460-67G>C (n.460-67G>C)
dbSNP gnomAD v3 gnomAD v4
9g.94605644T>CCA2579387218FBP1c.866-68A>G (n.866-68A>G)
c.706-68A>G (n.706-68A>G)
c.511-68A>G (n.511-68A>G)
c.460-68A>G (n.460-68A>G)
gnomAD v4
9g.94605644_94605646delinsTAACA1865226105FBP1c.866-70_866-68delinsTTA (n.866-70_866-68delinsTTA)
c.706-70_706-68delinsTTA (n.706-70_706-68delinsTTA)
c.511-70_511-68delinsTTA (n.511-70_511-68delinsTTA)
c.460-70_460-68delinsTTA (n.460-70_460-68delinsTTA)
9g.94605645A>CCA2690769199FBP1c.866-69T>G (n.866-69T>G)
c.706-69T>G (n.706-69T>G)
c.511-69T>G (n.511-69T>G)
c.460-69T>G (n.460-69T>G)
gnomAD v4
9g.94605645_94605646delCA918511045FBP1c.866-70_866-69del (n.866-70_866-69del)
c.706-70_706-69del (n.706-70_706-69del)
c.511-70_511-69del (n.511-70_511-69del)
c.460-70_460-69del (n.460-70_460-69del)
dbSNP gnomAD v4
9g.94605647G>TCA2690769200FBP1c.866-71C>A (n.866-71C>A)
c.706-71C>A (n.706-71C>A)
c.511-71C>A (n.511-71C>A)
c.460-71C>A (n.460-71C>A)
gnomAD v4
9g.94605648T>CCA2690769202FBP1c.866-72A>G (n.866-72A>G)
c.706-72A>G (n.706-72A>G)
c.511-72A>G (n.511-72A>G)
c.460-72A>G (n.460-72A>G)
dbSNP gnomAD v4
9g.94605650dupCA2690769201FBP1c.866-72dup (n.866-72dup)
c.706-72dup (n.706-72dup)
c.511-72dup (n.511-72dup)
c.460-72dup (n.460-72dup)
gnomAD v4
9g.94605650T>CCA868727548FBP1c.866-74A>G (n.866-74A>G)
c.706-74A>G (n.706-74A>G)
c.511-74A>G (n.511-74A>G)
c.460-74A>G (n.460-74A>G)
dbSNP gnomAD v2 gnomAD v4
9g.94605650T=CA1865226106FBP1c.866-74A= (n.866-74A=)
c.706-74A= (n.706-74A=)
c.511-74A= (n.511-74A=)
c.460-74A= (n.460-74A=)
9g.94605651C>ACA2690769203FBP1c.866-75G>T (n.866-75G>T)
c.706-75G>T (n.706-75G>T)
c.511-75G>T (n.511-75G>T)
c.460-75G>T (n.460-75G>T)
gnomAD v4
9g.94605651C>TCA2569321991FBP1c.866-75G>A (n.866-75G>A)
c.706-75G>A (n.706-75G>A)
c.511-75G>A (n.511-75G>A)
c.460-75G>A (n.460-75G>A)
gnomAD v4
9g.94605654_94605655insTTAATCA2554230355FBP1c.866-78_866-77insTTAAA (n.866-78_866-77insTTAAA)
c.706-78_706-77insTTAAA (n.706-78_706-77insTTAAA)
c.511-78_511-77insTTAAA (n.511-78_511-77insTTAAA)
c.460-78_460-77insTTAAA (n.460-78_460-77insTTAAA)
9g.94605655G>TCA2690769204FBP1c.866-79C>A (n.866-79C>A)
c.706-79C>A (n.706-79C>A)
c.511-79C>A (n.511-79C>A)
c.460-79C>A (n.460-79C>A)
gnomAD v4
9g.94605657T>CCA2690769205FBP1c.866-81A>G (n.866-81A>G)
c.706-81A>G (n.706-81A>G)
c.511-81A>G (n.511-81A>G)
c.460-81A>G (n.460-81A>G)
gnomAD v4

Number of alleles fetched