| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | ClinVar |
| 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 |
| 9 | g.127666251A>C | CA374934087 | STXBP1 | c.707A>C (p.Gln236Pro) c.749A>C (p.Gln250Pro) c.*391A>C (n.*391A>C) c.*1613A>C (n.*1613A>C) c.691A>C n.585A>C c.740A>C (p.Gln247Pro) | |
| 9 | g.127666251A>G | CA374934089 | STXBP1 | c.707A>G (p.Gln236Arg) c.749A>G (p.Gln250Arg) c.*391A>G (n.*391A>G) c.*1613A>G (n.*1613A>G) c.691A>G n.585A>G c.740A>G (p.Gln247Arg) | ClinVar |
| 9 | g.127666251A>T | CA374934091 | STXBP1 | c.707A>T (p.Gln236Leu) c.749A>T (p.Gln250Leu) c.*391A>T (n.*391A>T) c.*1613A>T (n.*1613A>T) c.691A>T n.585A>T c.740A>T (p.Gln247Leu) | |
| 9 | g.127666252G>A | CA467226007 | STXBP1 | c.708G>A (p.Gln236=) c.750G>A (p.Gln250=) c.*392G>A (n.*392G>A) c.*1614G>A (n.*1614G>A) c.692G>A n.586G>A c.741G>A (p.Gln247=) | gnomAD v4 |
| 9 | g.127666252G>C | CA374934093 | STXBP1 | c.708G>C (p.Gln236His) c.750G>C (p.Gln250His) c.*392G>C (n.*392G>C) c.*1614G>C (n.*1614G>C) c.692G>C n.586G>C c.741G>C (p.Gln247His) | |
| 9 | g.127666252G>T | CA374934095 | STXBP1 | c.708G>T (p.Gln236His) c.750G>T (p.Gln250His) c.*392G>T (n.*392G>T) c.*1614G>T (n.*1614G>T) c.692G>T n.586G>T c.741G>T (p.Gln247His) | |
| 9 | g.127666253G>A | CA374934097 | STXBP1 | c.709G>A (p.Ala237Thr) c.751G>A (p.Ala251Thr) c.*393G>A (n.*393G>A) c.*1615G>A (n.*1615G>A) c.693G>A n.587G>A c.742G>A (p.Ala248Thr) | |
| 9 | g.127666253G>C | CA374934101 | STXBP1 | c.709G>C (p.Ala237Pro) c.751G>C (p.Ala251Pro) c.*393G>C (n.*393G>C) c.*1615G>C (n.*1615G>C) c.693G>C n.587G>C c.742G>C (p.Ala248Pro) | |
| 9 | g.127666253G>T | CA374934099 | STXBP1 | c.709G>T (p.Ala237Ser) c.751G>T (p.Ala251Ser) c.*393G>T (n.*393G>T) c.*1615G>T (n.*1615G>T) c.693G>T n.587G>T c.742G>T (p.Ala248Ser) | gnomAD v4 |
| 9 | g.127666254C>A | CA374934104 | STXBP1 | c.710C>A (p.Ala237Asp) c.752C>A (p.Ala251Asp) c.*394C>A (n.*394C>A) c.*1616C>A (n.*1616C>A) c.694C>A n.588C>A c.743C>A (p.Ala248Asp) | |
| 9 | g.127666254C>G | CA374934106 | STXBP1 | c.710C>G (p.Ala237Gly) c.752C>G (p.Ala251Gly) c.*394C>G (n.*394C>G) c.*1616C>G (n.*1616C>G) c.694C>G n.588C>G c.743C>G (p.Ala248Gly) | |
| 9 | g.127666254C>T | CA374934107 | STXBP1 | c.710C>T (p.Ala237Val) c.752C>T (p.Ala251Val) c.*394C>T (n.*394C>T) c.*1616C>T (n.*1616C>T) c.694C>T n.588C>T c.743C>T (p.Ala248Val) | |
| 9 | g.127666254_127666256delinsCTA | CA1879911684 | STXBP1 | c.710_712delinsCTA (p.Ala237=) c.752_754delinsCTA (p.Ala251=) c.*394_*396delinsCTA (n.*394_*396delinsCTA) c.*1616_*1618delinsCTA (n.*1616_*1618delinsCTA) c.694_696delinsCTA n.588_590delinsCTA c.743_745delinsCTA (p.Ala248=) | |
| 9 | g.127666255T>A | CA467226039 | STXBP1 | c.711T>A (p.Ala237=) c.753T>A (p.Ala251=) c.*395T>A (n.*395T>A) c.*1617T>A (n.*1617T>A) c.695T>A n.589T>A c.744T>A (p.Ala248=) | ClinVar dbSNP |
| 9 | g.127666255T>C | CA5248367 | STXBP1 | c.711T>C (p.Ala237=) c.753T>C (p.Ala251=) c.*395T>C (n.*395T>C) c.*1617T>C (n.*1617T>C) c.695T>C n.589T>C c.744T>C (p.Ala248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127666255T>G | CA467226043 | STXBP1 | c.711T>G (p.Ala237=) c.753T>G (p.Ala251=) c.*395T>G (n.*395T>G) c.*1617T>G (n.*1617T>G) c.695T>G n.589T>G c.744T>G (p.Ala248=) | |
| 9 | g.127666255T= | CA1879911694 | STXBP1 | c.711T= (p.Ala237=) c.753T= (p.Ala251=) c.*395T= (n.*395T=) c.*1617T= (n.*1617T=) c.695T= n.589T= c.744T= (p.Ala248=) | |
| 9 | g.127666256_127666257del | CA173640 | STXBP1 | c.712_713del (p.Met238GlufsTer3) c.754_755del (p.Met252GlufsTer3) c.*396_*397del (n.*396_*397del) c.*1618_*1619del (n.*1618_*1619del) c.696_697del n.590_591del c.745_746del (p.Met249GlufsTer3) | ClinVar dbSNP |
| 9 | g.127666256A>C | CA374934112 | STXBP1 | c.712A>C (p.Met238Leu) c.754A>C (p.Met252Leu) c.*396A>C (n.*396A>C) c.*1618A>C (n.*1618A>C) c.696A>C n.590A>C c.745A>C (p.Met249Leu) | gnomAD v4 |
| 9 | g.127666256A>G | CA374934114 | STXBP1 | c.712A>G (p.Met238Val) c.754A>G (p.Met252Val) c.*396A>G (n.*396A>G) c.*1618A>G (n.*1618A>G) c.696A>G n.590A>G c.745A>G (p.Met249Val) | ClinVar |
| 9 | g.127666256A>T | CA374934116 | STXBP1 | c.712A>T (p.Met238Leu) c.754A>T (p.Met252Leu) c.*396A>T (n.*396A>T) c.*1618A>T (n.*1618A>T) c.696A>T n.590A>T c.745A>T (p.Met249Leu) | |
| 9 | g.127666257T>A | CA374934119 | STXBP1 | c.713T>A (p.Met238Lys) c.755T>A (p.Met252Lys) c.*397T>A (n.*397T>A) c.*1619T>A (n.*1619T>A) c.697T>A n.591T>A c.746T>A (p.Met249Lys) | |
| 9 | g.127666257T>C | CA374934121 | STXBP1 | c.713T>C (p.Met238Thr) c.755T>C (p.Met252Thr) c.*397T>C (n.*397T>C) c.*1619T>C (n.*1619T>C) c.697T>C n.591T>C c.746T>C (p.Met249Thr) | ClinVar dbSNP |
| 9 | g.127666257T>G | CA374934123 | STXBP1 | c.713T>G (p.Met238Arg) c.755T>G (p.Met252Arg) c.*397T>G (n.*397T>G) c.*1619T>G (n.*1619T>G) c.697T>G n.591T>G c.746T>G (p.Met249Arg) | gnomAD v4 |
| 9 | g.127666257T= | CA1879911699 | STXBP1 | c.713T= (p.Met238=) c.755T= (p.Met252=) c.*397T= (n.*397T=) c.*1619T= (n.*1619T=) c.697T= n.591T= c.746T= (p.Met249=) | |
| 9 | g.127666258G>A | CA374934127 | STXBP1 | c.714G>A (p.Met238Ile) c.756G>A (p.Met252Ile) c.*398G>A (n.*398G>A) c.*1620G>A (n.*1620G>A) c.698G>A n.592G>A c.747G>A (p.Met249Ile) | COSMIC COSMIC |
| 9 | g.127666258G>C | CA374934129 | STXBP1 | c.714G>C (p.Met238Ile) c.756G>C (p.Met252Ile) c.*398G>C (n.*398G>C) c.*1620G>C (n.*1620G>C) c.698G>C n.592G>C c.747G>C (p.Met249Ile) | |
| 9 | g.127666258G>T | CA374934125 | STXBP1 | c.714G>T (p.Met238Ile) c.756G>T (p.Met252Ile) c.*398G>T (n.*398G>T) c.*1620G>T (n.*1620G>T) c.698G>T n.592G>T c.747G>T (p.Met249Ile) | |
| 9 | g.127666259A>C | CA374934134 | STXBP1 | c.715A>C (p.Ser239Arg) c.757A>C (p.Ser253Arg) c.*399A>C (n.*399A>C) c.*1621A>C (n.*1621A>C) c.699A>C n.593A>C c.748A>C (p.Ser250Arg) | |
| 9 | g.127666259A>G | CA374934131 | STXBP1 | c.715A>G (p.Ser239Gly) c.757A>G (p.Ser253Gly) c.*399A>G (n.*399A>G) c.*1621A>G (n.*1621A>G) c.699A>G n.593A>G c.748A>G (p.Ser250Gly) | |
| 9 | g.127666259A>T | CA374934132 | STXBP1 | c.715A>T (p.Ser239Cys) c.757A>T (p.Ser253Cys) c.*399A>T (n.*399A>T) c.*1621A>T (n.*1621A>T) c.699A>T n.593A>T c.748A>T (p.Ser250Cys) | |
| 9 | g.127666260G>A | CA374934136 | STXBP1 | c.716G>A (p.Ser239Asn) c.758G>A (p.Ser253Asn) c.*400G>A (n.*400G>A) c.*1622G>A (n.*1622G>A) c.700G>A n.594G>A c.749G>A (p.Ser250Asn) | ClinVar dbSNP |
| 9 | g.127666260G>C | CA374934138 | STXBP1 | c.716G>C (p.Ser239Thr) c.758G>C (p.Ser253Thr) c.*400G>C (n.*400G>C) c.*1622G>C (n.*1622G>C) c.700G>C n.594G>C c.749G>C (p.Ser250Thr) | |
| 9 | g.127666260G= | CA1879911703 | STXBP1 | c.716G= (p.Ser239=) c.758G= (p.Ser253=) c.*400G= (n.*400G=) c.*1622G= (n.*1622G=) c.700G= n.594G= c.749G= (p.Ser250=) | |
| 9 | g.127666260G>T | CA374934140 | STXBP1 | c.716G>T (p.Ser239Ile) c.758G>T (p.Ser253Ile) c.*400G>T (n.*400G>T) c.*1622G>T (n.*1622G>T) c.700G>T n.594G>T c.749G>T (p.Ser250Ile) | |
| 9 | g.127666261T>A | CA374934142 | STXBP1 | c.717T>A (p.Ser239Arg) c.759T>A (p.Ser253Arg) c.*401T>A (n.*401T>A) c.*1623T>A (n.*1623T>A) c.701T>A n.595T>A c.750T>A (p.Ser250Arg) | |
| 9 | g.127666261T>C | CA467226122 | STXBP1 | c.717T>C (p.Ser239=) c.759T>C (p.Ser253=) c.*401T>C (n.*401T>C) c.*1623T>C (n.*1623T>C) c.701T>C n.595T>C c.750T>C (p.Ser250=) | |
| 9 | g.127666261T>G | CA374934144 | STXBP1 | c.717T>G (p.Ser239Arg) c.759T>G (p.Ser253Arg) c.*401T>G (n.*401T>G) c.*1623T>G (n.*1623T>G) c.701T>G n.595T>G c.750T>G (p.Ser250Arg) | |
| 9 | g.127666262T>A | CA374934150 | STXBP1 | c.718T>A (p.Tyr240Asn) c.760T>A (p.Tyr254Asn) c.*402T>A (n.*402T>A) c.*1624T>A (n.*1624T>A) c.702T>A n.596T>A c.751T>A (p.Tyr251Asn) | |
| 9 | g.127666262T>C | CA374934147 | STXBP1 | c.718T>C (p.Tyr240His) c.760T>C (p.Tyr254His) c.*402T>C (n.*402T>C) c.*1624T>C (n.*1624T>C) c.702T>C n.596T>C c.751T>C (p.Tyr251His) | |
| 9 | g.127666262T>G | CA374934148 | STXBP1 | c.718T>G (p.Tyr240Asp) c.760T>G (p.Tyr254Asp) c.*402T>G (n.*402T>G) c.*1624T>G (n.*1624T>G) c.702T>G n.596T>G c.751T>G (p.Tyr251Asp) | |
| 9 | g.127666263A>C | CA374934151 | STXBP1 | c.719A>C (p.Tyr240Ser) c.761A>C (p.Tyr254Ser) c.*403A>C (n.*403A>C) c.*1625A>C (n.*1625A>C) c.703A>C n.597A>C c.752A>C (p.Tyr251Ser) | |
| 9 | g.127666263A>G | CA374934153 | STXBP1 | c.719A>G (p.Tyr240Cys) c.761A>G (p.Tyr254Cys) c.*403A>G (n.*403A>G) c.*1625A>G (n.*1625A>G) c.703A>G n.597A>G c.752A>G (p.Tyr251Cys) | |
| 9 | g.127666263A>T | CA374934155 | STXBP1 | c.719A>T (p.Tyr240Phe) c.761A>T (p.Tyr254Phe) c.*403A>T (n.*403A>T) c.*1625A>T (n.*1625A>T) c.703A>T n.597A>T c.752A>T (p.Tyr251Phe) | |
| 9 | g.127666264T>A | CA374934158 | STXBP1 | c.720T>A (p.Tyr240Ter) c.762T>A (p.Tyr254Ter) c.*404T>A (n.*404T>A) c.*1626T>A (n.*1626T>A) c.704T>A n.598T>A c.753T>A (p.Tyr251Ter) | |
| 9 | g.127666264T>C | CA467226137 | STXBP1 | c.720T>C (p.Tyr240=) c.762T>C (p.Tyr254=) c.*404T>C (n.*404T>C) c.*1626T>C (n.*1626T>C) c.704T>C n.598T>C c.753T>C (p.Tyr251=) |