Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.133256027_133256031delCA467852866ABOn.730_734del
n.54-4878_54-4874del
c.28+19132_28+19136del (n.28+19132_28+19136del)
n.712_716del
c.698_702del (p.Pro233LeufsTer?)
c.701_705del (p.Pro234LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.133256031G>ACA375685507ABOn.729C>T
n.54-4879C>T
c.28+19131C>T (n.28+19131C>T)
n.711C>T
c.697C>T (p.Pro233Ser)
c.700C>T (p.Pro234Ser)
 gnomAD v4
9g.133256031G>CCA127357ABOn.729C>G
n.54-4879C>G
c.28+19131C>G (n.28+19131C>G)
n.711C>G
c.697C>G (p.Pro233Ala)
c.700C>G (p.Pro234Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.133256031G=CA1882580201ABOn.729C=
n.54-4879C=
c.28+19131C= (n.28+19131C=)
n.711C=
c.697C= (p.Pro233=)
c.700C= (p.Pro234=)
9g.133256031G>TCA375685509ABOn.729C>A
n.54-4879C>A
c.28+19131C>A (n.28+19131C>A)
n.711C>A
c.697C>A (p.Pro233Thr)
c.700C>A (p.Pro234Thr)
9g.133256032G>ACA5305763ABOn.728C>T
n.54-4880C>T
c.28+19130C>T (n.28+19130C>T)
n.710C>T
c.696C>T (p.His232=)
c.699C>T (p.His233=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133256032G>CCA375685516ABOn.728C>G
n.54-4880C>G
c.28+19130C>G (n.28+19130C>G)
n.710C>G
c.696C>G (p.His232Gln)
c.699C>G (p.His233Gln)
9g.133256032G=CA1882580210ABOn.728C=
n.54-4880C=
c.28+19130C= (n.28+19130C=)
n.710C=
c.696C= (p.His232=)
c.699C= (p.His233=)
9g.133256032G>TCA5305764ABOn.728C>A
n.54-4880C>A
c.28+19130C>A (n.28+19130C>A)
n.710C>A
c.696C>A (p.His232Gln)
c.699C>A (p.His233Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133256033T>ACA375685520ABOn.727A>T
n.54-4881A>T
c.28+19129A>T (n.28+19129A>T)
n.709A>T
c.695A>T (p.His232Leu)
c.698A>T (p.His233Leu)
9g.133256033T>CCA375685522ABOn.727A>G
n.54-4881A>G
c.28+19129A>G (n.28+19129A>G)
n.709A>G
c.695A>G (p.His232Arg)
c.698A>G (p.His233Arg)
 COSMIC
9g.133256033T>GCA200765391ABOn.727A>C
n.54-4881A>C
c.28+19129A>C (n.28+19129A>C)
n.709A>C
c.695A>C (p.His232Pro)
c.698A>C (p.His233Pro)
 dbSNP gnomAD v3 gnomAD v4
9g.133256033T=CA1882580213ABOn.727A=
n.54-4881A=
c.28+19129A= (n.28+19129A=)
n.709A=
c.695A= (p.His232=)
c.698A= (p.His233=)
9g.133256034G>ACA5305765ABOn.726C>T
n.54-4882C>T
c.28+19128C>T (n.28+19128C>T)
n.708C>T
c.694C>T (p.His232Tyr)
c.697C>T (p.His233Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.133256034G>CCA375685528ABOn.726C>G
n.54-4882C>G
c.28+19128C>G (n.28+19128C>G)
n.708C>G
c.694C>G (p.His232Asp)
c.697C>G (p.His233Asp)
9g.133256034G=CA1882580218ABOn.726C=
n.54-4882C=
c.28+19128C= (n.28+19128C=)
n.708C=
c.694C= (p.His232=)
c.697C= (p.His233=)
9g.133256034G>TCA375685530ABOn.726C>A
n.54-4882C>A
c.28+19128C>A (n.28+19128C>A)
n.708C>A
c.694C>A (p.His232Asn)
c.697C>A (p.His233Asn)
9g.133256035C>ACA467852885ABOn.725G>T
n.54-4883G>T
c.28+19127G>T (n.28+19127G>T)
n.707G>T
c.693G>T (p.Leu231=)
c.696G>T (p.Leu232=)
9g.133256035C>GCA467852883ABOn.725G>C
n.54-4883G>C
c.28+19127G>C (n.28+19127G>C)
n.707G>C
c.693G>C (p.Leu231=)
c.696G>C (p.Leu232=)
9g.133256035C>TCA467852882ABOn.725G>A
n.54-4883G>A
c.28+19127G>A (n.28+19127G>A)
n.707G>A
c.693G>A (p.Leu231=)
c.696G>A (p.Leu232=)
9g.133256036A=CA1882580225ABOn.724T=
n.54-4884T=
c.28+19126T= (n.28+19126T=)
n.706T=
c.692T= (p.Leu231=)
c.695T= (p.Leu232=)
9g.133256036A>CCA375685534ABOn.724T>G
n.54-4884T>G
c.28+19126T>G (n.28+19126T>G)
n.706T>G
c.692T>G (p.Leu231Arg)
c.695T>G (p.Leu232Arg)
9g.133256036A>GCA375685537ABOn.724T>C
n.54-4884T>C
c.28+19126T>C (n.28+19126T>C)
n.706T>C
c.692T>C (p.Leu231Pro)
c.695T>C (p.Leu232Pro)
 dbSNP gnomAD v2 gnomAD v4
9g.133256036A>TCA200765396ABOn.724T>A
n.54-4884T>A
c.28+19126T>A (n.28+19126T>A)
n.706T>A
c.692T>A (p.Leu231Gln)
c.695T>A (p.Leu232Gln)
 dbSNP gnomAD v4
9g.133256037G>ACA467852886ABOn.723C>T
n.54-4885C>T
c.28+19125C>T (n.28+19125C>T)
n.705C>T
c.691C>T (p.Leu231=)
c.694C>T (p.Leu232=)
 gnomAD v4
9g.133256037G>CCA375685540ABOn.723C>G
n.54-4885C>G
c.28+19125C>G (n.28+19125C>G)
n.705C>G
c.691C>G (p.Leu231Val)
c.694C>G (p.Leu232Val)
9g.133256037G>TCA375685542ABOn.723C>A
n.54-4885C>A
c.28+19125C>A (n.28+19125C>A)
n.705C>A
c.691C>A (p.Leu231Met)
c.694C>A (p.Leu232Met)
 gnomAD v4
9g.133256038G>ACA467852889ABOn.722C>T
n.54-4886C>T
c.28+19124C>T (n.28+19124C>T)
n.704C>T
c.690C>T (p.Thr230=)
c.693C>T (p.Thr231=)
 dbSNP gnomAD v2
9g.133256038G>CCA467852888ABOn.722C>G
n.54-4886C>G
c.28+19124C>G (n.28+19124C>G)
n.704C>G
c.690C>G (p.Thr230=)
c.693C>G (p.Thr231=)
 dbSNP gnomAD v3 gnomAD v4
9g.133256038G=CA1882580230ABOn.722C=
n.54-4886C=
c.28+19124C= (n.28+19124C=)
n.704C=
c.690C= (p.Thr230=)
c.693C= (p.Thr231=)
9g.133256038G>TCA467852887ABOn.722C>A
n.54-4886C>A
c.28+19124C>A (n.28+19124C>A)
n.704C>A
c.690C>A (p.Thr230=)
c.693C>A (p.Thr231=)
 gnomAD v4
9g.133256039G>ACA375685545ABOn.721C>T
n.54-4887C>T
c.28+19123C>T (n.28+19123C>T)
n.703C>T
c.689C>T (p.Thr230Ile)
c.692C>T (p.Thr231Ile)
 gnomAD v4
9g.133256039G>CCA375685548ABOn.721C>G
n.54-4887C>G
c.28+19123C>G (n.28+19123C>G)
n.703C>G
c.689C>G (p.Thr230Ser)
c.692C>G (p.Thr231Ser)
9g.133256039G>TCA375685550ABOn.721C>A
n.54-4887C>A
c.28+19123C>A (n.28+19123C>A)
n.703C>A
c.689C>A (p.Thr230Asn)
c.692C>A (p.Thr231Asn)
 gnomAD v4
9g.133256040T>ACA375685553ABOn.720A>T
n.54-4888A>T
c.28+19122A>T (n.28+19122A>T)
n.702A>T
c.688A>T (p.Thr230Ser)
c.691A>T (p.Thr231Ser)
9g.133256040T>CCA375685555ABOn.720A>G
n.54-4888A>G
c.28+19122A>G (n.28+19122A>G)
n.702A>G
c.688A>G (p.Thr230Ala)
c.691A>G (p.Thr231Ala)
 dbSNP
9g.133256040T>GCA375685557ABOn.720A>C
n.54-4888A>C
c.28+19122A>C (n.28+19122A>C)
n.702A>C
c.688A>C (p.Thr230Pro)
c.691A>C (p.Thr231Pro)
9g.133256040T=CA1882580233ABOn.720A=
n.54-4888A=
c.28+19122A= (n.28+19122A=)
n.702A=
c.688A= (p.Thr230=)
c.691A= (p.Thr231=)
9g.133256041G>ACA467852894ABOn.719C>T
n.54-4889C>T
c.28+19121C>T (n.28+19121C>T)
n.701C>T
c.687C>T (p.Gly229=)
c.690C>T (p.Gly230=)
 gnomAD v4
9g.133256041G>CCA467852893ABOn.719C>G
n.54-4889C>G
c.28+19121C>G (n.28+19121C>G)
n.701C>G
c.687C>G (p.Gly229=)
c.690C>G (p.Gly230=)
9g.133256041G>TCA467852892ABOn.719C>A
n.54-4889C>A
c.28+19121C>A (n.28+19121C>A)
n.701C>A
c.687C>A (p.Gly229=)
c.690C>A (p.Gly230=)
 gnomAD v4
9g.133256042C>ACA375685561ABOn.718G>T
n.54-4890G>T
c.28+19120G>T (n.28+19120G>T)
n.700G>T
c.686G>T (p.Gly229Val)
c.689G>T (p.Gly230Val)
 dbSNP gnomAD v4
9g.133256042C=CA1882580235ABOn.718G=
n.54-4890G=
c.28+19120G= (n.28+19120G=)
n.700G=
c.686G= (p.Gly229=)
c.689G= (p.Gly230=)
9g.133256042C>GCA375685563ABOn.718G>C
n.54-4890G>C
c.28+19120G>C (n.28+19120G>C)
n.700G>C
c.686G>C (p.Gly229Ala)
c.689G>C (p.Gly230Ala)
 gnomAD v4
9g.133256042C>TCA5305766ABOn.718G>A
n.54-4890G>A
c.28+19120G>A (n.28+19120G>A)
n.700G>A
c.686G>A (p.Gly229Asp)
c.689G>A (p.Gly230Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133256043C>ACA375685569ABOn.717G>T
n.54-4891G>T
c.28+19119G>T (n.28+19119G>T)
n.699G>T
c.685G>T (p.Gly229Cys)
c.688G>T (p.Gly230Cys)
 gnomAD v4
9g.133256043C=CA1882580238ABOn.717G=
n.54-4891G=
c.28+19119G= (n.28+19119G=)
n.699G=
c.685G= (p.Gly229=)
c.688G= (p.Gly230=)
9g.133256043C>GCA375685572ABOn.717G>C
n.54-4891G>C
c.28+19119G>C (n.28+19119G>C)
n.699G>C
c.685G>C (p.Gly229Arg)
c.688G>C (p.Gly230Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.133256043C>TCA375685567ABOn.717G>A
n.54-4891G>A
c.28+19119G>A (n.28+19119G>A)
n.699G>A
c.685G>A (p.Gly229Ser)
c.688G>A (p.Gly230Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.133256044G>ACA5305767ABOn.716C>T
n.54-4892C>T
c.28+19118C>T (n.28+19118C>T)
n.698C>T
c.684C>T (p.Phe228=)
c.687C>T (p.Phe229=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched