Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127666236A=CA1879911662STXBP1c.692A= (p.His231=)
c.734A= (p.His245=)
c.*376A= (n.*376A=)
c.*1598A= (n.*1598A=)
c.676A=
n.570A=
c.725A= (p.His242=)
9g.127666236A>CCA374934016STXBP1c.692A>C (p.His231Pro)
c.734A>C (p.His245Pro)
c.*376A>C (n.*376A>C)
c.*1598A>C (n.*1598A>C)
c.676A>C
n.570A>C
c.725A>C (p.His242Pro)
9g.127666236A>GCA173637STXBP1c.692A>G (p.His231Arg)
c.734A>G (p.His245Arg)
c.*376A>G (n.*376A>G)
c.*1598A>G (n.*1598A>G)
c.676A>G
n.570A>G
c.725A>G (p.His242Arg)
ClinVar dbSNP
9g.127666236A>TCA374934019STXBP1c.692A>T (p.His231Leu)
c.734A>T (p.His245Leu)
c.*376A>T (n.*376A>T)
c.*1598A>T (n.*1598A>T)
c.676A>T
n.570A>T
c.725A>T (p.His242Leu)
9g.127666237T>ACA374934021STXBP1c.693T>A (p.His231Gln)
c.735T>A (p.His245Gln)
c.*377T>A (n.*377T>A)
c.*1599T>A (n.*1599T>A)
c.677T>A
n.571T>A
c.726T>A (p.His242Gln)
9g.127666237T>CCA467225861STXBP1c.693T>C (p.His231=)
c.735T>C (p.His245=)
c.*377T>C (n.*377T>C)
c.*1599T>C (n.*1599T>C)
c.677T>C
n.571T>C
c.726T>C (p.His242=)
9g.127666237T>GCA374934023STXBP1c.693T>G (p.His231Gln)
c.735T>G (p.His245Gln)
c.*377T>G (n.*377T>G)
c.*1599T>G (n.*1599T>G)
c.677T>G
n.571T>G
c.726T>G (p.His242Gln)
9g.127666238G>ACA374934026STXBP1c.694G>A (p.Glu232Lys)
c.736G>A (p.Glu246Lys)
c.*378G>A (n.*378G>A)
c.*1600G>A (n.*1600G>A)
c.678G>A
n.572G>A
c.727G>A (p.Glu243Lys)
9g.127666238G>CCA374934027STXBP1c.694G>C (p.Glu232Gln)
c.736G>C (p.Glu246Gln)
c.*378G>C (n.*378G>C)
c.*1600G>C (n.*1600G>C)
c.678G>C
n.572G>C
c.727G>C (p.Glu243Gln)
9g.127666238G>TCA374934029STXBP1c.694G>T (p.Glu232Ter)
c.736G>T (p.Glu246Ter)
c.*378G>T (n.*378G>T)
c.*1600G>T (n.*1600G>T)
c.678G>T
n.572G>T
c.727G>T (p.Glu243Ter)
9g.127666239A>CCA374934032STXBP1c.695A>C (p.Glu232Ala)
c.737A>C (p.Glu246Ala)
c.*379A>C (n.*379A>C)
c.*1601A>C (n.*1601A>C)
c.679A>C
n.573A>C
c.728A>C (p.Glu243Ala)
COSMIC COSMIC
9g.127666239A>GCA374934033STXBP1c.695A>G (p.Glu232Gly)
c.737A>G (p.Glu246Gly)
c.*379A>G (n.*379A>G)
c.*1601A>G (n.*1601A>G)
c.679A>G
n.573A>G
c.728A>G (p.Glu243Gly)
9g.127666239A>TCA374934035STXBP1c.695A>T (p.Glu232Val)
c.737A>T (p.Glu246Val)
c.*379A>T (n.*379A>T)
c.*1601A>T (n.*1601A>T)
c.679A>T
n.573A>T
c.728A>T (p.Glu243Val)
9g.127666240A>CCA374934039STXBP1c.696A>C (p.Glu232Asp)
c.738A>C (p.Glu246Asp)
c.*380A>C (n.*380A>C)
c.*1602A>C (n.*1602A>C)
c.680A>C
n.574A>C
c.729A>C (p.Glu243Asp)
9g.127666240A>GCA467225885STXBP1c.696A>G (p.Glu232=)
c.738A>G (p.Glu246=)
c.*380A>G (n.*380A>G)
c.*1602A>G (n.*1602A>G)
c.680A>G
n.574A>G
c.729A>G (p.Glu243=)
9g.127666240A>TCA374934038STXBP1c.696A>T (p.Glu232Asp)
c.738A>T (p.Glu246Asp)
c.*380A>T (n.*380A>T)
c.*1602A>T (n.*1602A>T)
c.680A>T
n.574A>T
c.729A>T (p.Glu243Asp)
9g.127666241T>ACA374934042STXBP1c.697T>A (p.Leu233Met)
c.739T>A (p.Leu247Met)
c.*381T>A (n.*381T>A)
c.*1603T>A (n.*1603T>A)
c.681T>A
n.575T>A
c.730T>A (p.Leu244Met)
9g.127666241T>CCA467225889STXBP1c.697T>C (p.Leu233=)
c.739T>C (p.Leu247=)
c.*381T>C (n.*381T>C)
c.*1603T>C (n.*1603T>C)
c.681T>C
n.575T>C
c.730T>C (p.Leu244=)
9g.127666241T>GCA374934043STXBP1c.697T>G (p.Leu233Val)
c.739T>G (p.Leu247Val)
c.*381T>G (n.*381T>G)
c.*1603T>G (n.*1603T>G)
c.681T>G
n.575T>G
c.730T>G (p.Leu244Val)
9g.127666242T>ACA374934046STXBP1c.698T>A (p.Leu233Ter)
c.740T>A (p.Leu247Ter)
c.*382T>A (n.*382T>A)
c.*1604T>A (n.*1604T>A)
c.682T>A
n.576T>A
c.731T>A (p.Leu244Ter)
9g.127666242T>CCA374934047STXBP1c.698T>C (p.Leu233Ser)
c.740T>C (p.Leu247Ser)
c.*382T>C (n.*382T>C)
c.*1604T>C (n.*1604T>C)
c.682T>C
n.576T>C
c.731T>C (p.Leu244Ser)
9g.127666242T>GCA374934049STXBP1c.698T>G (p.Leu233Trp)
c.740T>G (p.Leu247Trp)
c.*382T>G (n.*382T>G)
c.*1604T>G (n.*1604T>G)
c.682T>G
n.576T>G
c.731T>G (p.Leu244Trp)
9g.127666243G>ACA467225919STXBP1c.699G>A (p.Leu233=)
c.741G>A (p.Leu247=)
c.*383G>A (n.*383G>A)
c.*1605G>A (n.*1605G>A)
c.683G>A
n.577G>A
c.732G>A (p.Leu244=)
9g.127666243G>CCA374934052STXBP1c.699G>C (p.Leu233Phe)
c.741G>C (p.Leu247Phe)
c.*383G>C (n.*383G>C)
c.*1605G>C (n.*1605G>C)
c.683G>C
n.577G>C
c.732G>C (p.Leu244Phe)
9g.127666243G>TCA374934053STXBP1c.699G>T (p.Leu233Phe)
c.741G>T (p.Leu247Phe)
c.*383G>T (n.*383G>T)
c.*1605G>T (n.*1605G>T)
c.683G>T
n.577G>T
c.732G>T (p.Leu244Phe)
9g.127666244A>CCA374934055STXBP1c.700A>C (p.Thr234Pro)
c.742A>C (p.Thr248Pro)
c.*384A>C (n.*384A>C)
c.*1606A>C (n.*1606A>C)
c.684A>C
n.578A>C
c.733A>C (p.Thr245Pro)
9g.127666244A>GCA374934057STXBP1c.700A>G (p.Thr234Ala)
c.742A>G (p.Thr248Ala)
c.*384A>G (n.*384A>G)
c.*1606A>G (n.*1606A>G)
c.684A>G
n.578A>G
c.733A>G (p.Thr245Ala)
9g.127666244A>TCA374934058STXBP1c.700A>T (p.Thr234Ser)
c.742A>T (p.Thr248Ser)
c.*384A>T (n.*384A>T)
c.*1606A>T (n.*1606A>T)
c.684A>T
n.578A>T
c.733A>T (p.Thr245Ser)
9g.127666245C>ACA374934062STXBP1c.701C>A (p.Thr234Asn)
c.743C>A (p.Thr248Asn)
c.*385C>A (n.*385C>A)
c.*1607C>A (n.*1607C>A)
c.685C>A
n.579C>A
c.734C>A (p.Thr245Asn)
9g.127666245C=CA1879911668STXBP1c.701C= (p.Thr234=)
c.743C= (p.Thr248=)
c.*385C= (n.*385C=)
c.*1607C= (n.*1607C=)
c.685C=
n.579C=
c.734C= (p.Thr245=)
9g.127666245C>GCA374934063STXBP1c.701C>G (p.Thr234Ser)
c.743C>G (p.Thr248Ser)
c.*385C>G (n.*385C>G)
c.*1607C>G (n.*1607C>G)
c.685C>G
n.579C>G
c.734C>G (p.Thr245Ser)
9g.127666245C>TCA16606218STXBP1c.701C>T (p.Thr234Ile)
c.743C>T (p.Thr248Ile)
c.*385C>T (n.*385C>T)
c.*1607C>T (n.*1607C>T)
c.685C>T
n.579C>T
c.734C>T (p.Thr245Ile)
ClinVar dbSNP
9g.127666246T>ACA467225952STXBP1c.702T>A (p.Thr234=)
c.744T>A (p.Thr248=)
c.*386T>A (n.*386T>A)
c.*1608T>A (n.*1608T>A)
c.686T>A
n.580T>A
c.735T>A (p.Thr245=)
9g.127666246T>CCA467225962STXBP1c.702T>C (p.Thr234=)
c.744T>C (p.Thr248=)
c.*386T>C (n.*386T>C)
c.*1608T>C (n.*1608T>C)
c.686T>C
n.580T>C
c.735T>C (p.Thr245=)
9g.127666246T>GCA467225958STXBP1c.702T>G (p.Thr234=)
c.744T>G (p.Thr248=)
c.*386T>G (n.*386T>G)
c.*1608T>G (n.*1608T>G)
c.686T>G
n.580T>G
c.735T>G (p.Thr245=)
9g.127666249dupCA2695211357STXBP1c.705dup (p.Gln236SerfsTer6)
c.747dup (p.Gln250SerfsTer6)
c.*389dup (n.*389dup)
c.*1611dup (n.*1611dup)
c.689dup
n.583dup
c.738dup (p.Gln247SerfsTer6)
9g.127666248_127666249delCA2695211358STXBP1c.704_705del (p.Phe235SerfsTer6)
c.746_747del (p.Phe249SerfsTer6)
c.*388_*389del (n.*388_*389del)
c.*1610_*1611del (n.*1610_*1611del)
c.688_689del
n.582_583del
c.737_738del (p.Phe246SerfsTer6)
9g.127666247T>ACA374934066STXBP1c.703T>A (p.Phe235Ile)
c.745T>A (p.Phe249Ile)
c.*387T>A (n.*387T>A)
c.*1609T>A (n.*1609T>A)
c.687T>A
n.581T>A
c.736T>A (p.Phe246Ile)
9g.127666247T>CCA374934069STXBP1c.703T>C (p.Phe235Leu)
c.745T>C (p.Phe249Leu)
c.*387T>C (n.*387T>C)
c.*1609T>C (n.*1609T>C)
c.687T>C
n.581T>C
c.736T>C (p.Phe246Leu)
9g.127666247T>GCA374934068STXBP1c.703T>G (p.Phe235Val)
c.745T>G (p.Phe249Val)
c.*387T>G (n.*387T>G)
c.*1609T>G (n.*1609T>G)
c.687T>G
n.581T>G
c.736T>G (p.Phe246Val)
9g.127666248T>ACA374934072STXBP1c.704T>A (p.Phe235Tyr)
c.746T>A (p.Phe249Tyr)
c.*388T>A (n.*388T>A)
c.*1610T>A (n.*1610T>A)
c.688T>A
n.582T>A
c.737T>A (p.Phe246Tyr)
9g.127666248T>CCA374934074STXBP1c.704T>C (p.Phe235Ser)
c.746T>C (p.Phe249Ser)
c.*388T>C (n.*388T>C)
c.*1610T>C (n.*1610T>C)
c.688T>C
n.582T>C
c.737T>C (p.Phe246Ser)
ClinVar
9g.127666248T>GCA374934076STXBP1c.704T>G (p.Phe235Cys)
c.746T>G (p.Phe249Cys)
c.*388T>G (n.*388T>G)
c.*1610T>G (n.*1610T>G)
c.688T>G
n.582T>G
c.737T>G (p.Phe246Cys)
9g.127666249T>ACA374934078STXBP1c.705T>A (p.Phe235Leu)
c.747T>A (p.Phe249Leu)
c.*389T>A (n.*389T>A)
c.*1611T>A (n.*1611T>A)
c.689T>A
n.583T>A
c.738T>A (p.Phe246Leu)
9g.127666249T>CCA467225980STXBP1c.705T>C (p.Phe235=)
c.747T>C (p.Phe249=)
c.*389T>C (n.*389T>C)
c.*1611T>C (n.*1611T>C)
c.689T>C
n.583T>C
c.738T>C (p.Phe246=)
gnomAD v4
9g.127666249T>GCA374934079STXBP1c.705T>G (p.Phe235Leu)
c.747T>G (p.Phe249Leu)
c.*389T>G (n.*389T>G)
c.*1611T>G (n.*1611T>G)
c.689T>G
n.583T>G
c.738T>G (p.Phe246Leu)
9g.127666250C>ACA374934082STXBP1c.706C>A (p.Gln236Lys)
c.748C>A (p.Gln250Lys)
c.*390C>A (n.*390C>A)
c.*1612C>A (n.*1612C>A)
c.690C>A
n.584C>A
c.739C>A (p.Gln247Lys)
9g.127666250C=CA1879911680STXBP1c.706C= (p.Gln236=)
c.748C= (p.Gln250=)
c.*390C= (n.*390C=)
c.*1612C= (n.*1612C=)
c.690C=
n.584C=
c.739C= (p.Gln247=)
9g.127666250C>GCA374934084STXBP1c.706C>G (p.Gln236Glu)
c.748C>G (p.Gln250Glu)
c.*390C>G (n.*390C>G)
c.*1612C>G (n.*1612C>G)
c.690C>G
n.584C>G
c.739C>G (p.Gln247Glu)
ClinVar
9g.127666250C>TCA16618740STXBP1c.706C>T (p.Gln236Ter)
c.748C>T (p.Gln250Ter)
c.*390C>T (n.*390C>T)
c.*1612C>T (n.*1612C>T)
c.690C>T
n.584C>T
c.739C>T (p.Gln247Ter)
ClinVar dbSNP

Number of alleles fetched