Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127666236A= | CA1879911662 | STXBP1 | c.692A= (p.His231=) c.734A= (p.His245=) c.*376A= (n.*376A=) c.*1598A= (n.*1598A=) c.676A= n.570A= c.725A= (p.His242=) | |
9 | g.127666236A>C | CA374934016 | STXBP1 | c.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) | |
9 | g.127666236A>G | CA173637 | STXBP1 | c.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 |
9 | g.127666236A>T | CA374934019 | STXBP1 | c.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) | |
9 | g.127666237T>A | CA374934021 | STXBP1 | c.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) | |
9 | g.127666237T>C | CA467225861 | STXBP1 | c.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=) | |
9 | g.127666237T>G | CA374934023 | STXBP1 | c.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) | |
9 | g.127666238G>A | CA374934026 | STXBP1 | c.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) | |
9 | g.127666238G>C | CA374934027 | STXBP1 | c.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) | |
9 | g.127666238G>T | CA374934029 | STXBP1 | c.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) | |
9 | g.127666239A>C | CA374934032 | STXBP1 | c.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 |
9 | g.127666239A>G | CA374934033 | STXBP1 | c.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) | |
9 | g.127666239A>T | CA374934035 | STXBP1 | c.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) | |
9 | g.127666240A>C | CA374934039 | STXBP1 | c.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) | |
9 | g.127666240A>G | CA467225885 | STXBP1 | c.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=) | |
9 | g.127666240A>T | CA374934038 | STXBP1 | c.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) | |
9 | g.127666241T>A | CA374934042 | STXBP1 | c.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) | |
9 | g.127666241T>C | CA467225889 | STXBP1 | c.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=) | |
9 | g.127666241T>G | CA374934043 | STXBP1 | c.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) | |
9 | g.127666242T>A | CA374934046 | STXBP1 | c.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) | |
9 | g.127666242T>C | CA374934047 | STXBP1 | c.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) | |
9 | g.127666242T>G | CA374934049 | STXBP1 | c.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) | |
9 | g.127666243G>A | CA467225919 | STXBP1 | c.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=) | |
9 | g.127666243G>C | CA374934052 | STXBP1 | c.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) | |
9 | g.127666243G>T | CA374934053 | STXBP1 | c.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) | |
9 | g.127666244A>C | CA374934055 | STXBP1 | c.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) | |
9 | g.127666244A>G | CA374934057 | STXBP1 | c.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) | |
9 | g.127666244A>T | CA374934058 | STXBP1 | c.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) | |
9 | g.127666245C>A | CA374934062 | STXBP1 | c.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) | |
9 | g.127666245C= | CA1879911668 | STXBP1 | c.701C= (p.Thr234=) c.743C= (p.Thr248=) c.*385C= (n.*385C=) c.*1607C= (n.*1607C=) c.685C= n.579C= c.734C= (p.Thr245=) | |
9 | g.127666245C>G | CA374934063 | STXBP1 | c.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) | |
9 | g.127666245C>T | CA16606218 | STXBP1 | c.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 |
9 | g.127666246T>A | CA467225952 | STXBP1 | c.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=) | |
9 | g.127666246T>C | CA467225962 | STXBP1 | c.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=) | |
9 | g.127666246T>G | CA467225958 | STXBP1 | c.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=) | |
9 | g.127666249dup | CA2695211357 | STXBP1 | c.705dup (p.Gln236SerfsTer6) c.747dup (p.Gln250SerfsTer6) c.*389dup (n.*389dup) c.*1611dup (n.*1611dup) c.689dup n.583dup c.738dup (p.Gln247SerfsTer6) | |
9 | g.127666248_127666249del | CA2695211358 | STXBP1 | c.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) | |
9 | g.127666247T>A | CA374934066 | STXBP1 | c.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) | |
9 | g.127666247T>C | CA374934069 | STXBP1 | c.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) | |
9 | g.127666247T>G | CA374934068 | STXBP1 | c.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) | |
9 | g.127666248T>A | CA374934072 | STXBP1 | c.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) | |
9 | g.127666248T>C | CA374934074 | STXBP1 | c.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 |
9 | g.127666248T>G | CA374934076 | STXBP1 | c.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) | |
9 | g.127666249T>A | CA374934078 | STXBP1 | c.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) | |
9 | g.127666249T>C | CA467225980 | STXBP1 | c.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 |
9 | g.127666249T>G | CA374934079 | STXBP1 | c.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) | |
9 | g.127666250C>A | CA374934082 | STXBP1 | c.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) | |
9 | g.127666250C= | CA1879911680 | STXBP1 | c.706C= (p.Gln236=) c.748C= (p.Gln250=) c.*390C= (n.*390C=) c.*1612C= (n.*1612C=) c.690C= n.584C= c.739C= (p.Gln247=) | |
9 | g.127666250C>G | CA374934084 | STXBP1 | c.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 |
9 | g.127666250C>T | CA16618740 | STXBP1 | c.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 |