Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.8117792_8126946del | CA2573154518 | ClinVar | ||
17 | g.8121781_8121888del | CA2635937286 | HES7 | c.385_492del (p.Gly129_His164del) c.370_477del (p.Gly124_His159del) c.490_597del (p.Gly164_His199del) c.481_588del (p.Gly161_His196del) c.472_579del (p.Gly158_His193del) c.343_450del (p.Gly115_His150del) n.69+1967_69+2074del | gnomAD v4 |
17 | g.8121805_8121828dup | CA8368625 | HES7 | c.438_461dup (p.Pro154_Ala155insAlaProArgProSerLeuAspPro) c.423_446dup (p.Pro149_Ala150insAlaProArgProSerLeuAspPro) c.543_566dup (p.Pro189_Ala190insAlaProArgProSerLeuAspPro) c.534_557dup (p.Pro186_Ala187insAlaProArgProSerLeuAspPro) c.525_548dup (p.Pro183_Ala184insAlaProArgProSerLeuAspPro) c.396_419dup (p.Pro140_Ala141insAlaProArgProSerLeuAspPro) n.69+1991_69+2014dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121823_8121907del | CA2635937562 | HES7 | c.366_450del (p.Gln122HisfsTer?) c.351_435del (p.Gln117HisfsTer?) c.342_426del (p.Gln114HisfsTer?) c.471_555del (p.Gln157HisfsTer?) c.462_546del (p.Gln154HisfsTer?) c.453_537del (p.Gln151HisfsTer?) c.324_408del (p.Gln108HisfsTer?) n.69+2009_69+2093del | gnomAD v4 |
17 | g.8121815G>A | CA397988105 | HES7 | c.449C>T (p.Pro150Leu) c.434C>T (p.Pro145Leu) c.425C>T (p.Pro142Leu) c.554C>T (p.Pro185Leu) c.545C>T (p.Pro182Leu) c.536C>T (p.Pro179Leu) c.407C>T (p.Pro136Leu) n.69+2001G>A | gnomAD v4 |
17 | g.8121815G>C | CA397988107 | HES7 | c.449C>G (p.Pro150Arg) c.434C>G (p.Pro145Arg) c.425C>G (p.Pro142Arg) c.554C>G (p.Pro185Arg) c.545C>G (p.Pro182Arg) c.536C>G (p.Pro179Arg) c.407C>G (p.Pro136Arg) n.69+2001G>C | |
17 | g.8121815G>T | CA397988110 | HES7 | c.449C>A (p.Pro150Gln) c.434C>A (p.Pro145Gln) c.425C>A (p.Pro142Gln) c.554C>A (p.Pro185Gln) c.545C>A (p.Pro182Gln) c.536C>A (p.Pro179Gln) c.407C>A (p.Pro136Gln) n.69+2001G>T | gnomAD v4 |
17 | g.8121817del | CA2635937591 | HES7 | c.449del (p.Pro150HisfsTer?) c.434del (p.Pro145HisfsTer?) c.425del (p.Pro142HisfsTer?) c.554del (p.Pro185HisfsTer?) c.545del (p.Pro182HisfsTer?) c.536del (p.Pro179HisfsTer?) c.407del (p.Pro136HisfsTer?) n.69+2003del | gnomAD v4 |
17 | g.8121816G>A | CA397988112 | HES7 | c.448C>T (p.Pro150Ser) c.433C>T (p.Pro145Ser) c.424C>T (p.Pro142Ser) c.553C>T (p.Pro185Ser) c.544C>T (p.Pro182Ser) c.535C>T (p.Pro179Ser) c.406C>T (p.Pro136Ser) n.69+2002G>A | COSMIC |
17 | g.8121816G>C | CA397988114 | HES7 | c.448C>G (p.Pro150Ala) c.433C>G (p.Pro145Ala) c.424C>G (p.Pro142Ala) c.553C>G (p.Pro185Ala) c.544C>G (p.Pro182Ala) c.535C>G (p.Pro179Ala) c.406C>G (p.Pro136Ala) n.69+2002G>C | gnomAD v4 |
17 | g.8121816G>T | CA397988116 | HES7 | c.448C>A (p.Pro150Thr) c.433C>A (p.Pro145Thr) c.424C>A (p.Pro142Thr) c.553C>A (p.Pro185Thr) c.544C>A (p.Pro182Thr) c.535C>A (p.Pro179Thr) c.406C>A (p.Pro136Thr) n.69+2002G>T | gnomAD v4 |
17 | g.8121817G>A | CA497955268 | HES7 | c.447C>T (p.Arg149=) c.432C>T (p.Arg144=) c.423C>T (p.Arg141=) c.552C>T (p.Arg184=) c.543C>T (p.Arg181=) c.534C>T (p.Arg178=) c.405C>T (p.Arg135=) n.69+2003G>A | gnomAD v4 |
17 | g.8121817G>C | CA497955270 | HES7 | c.447C>G (p.Arg149=) c.432C>G (p.Arg144=) c.423C>G (p.Arg141=) c.552C>G (p.Arg184=) c.543C>G (p.Arg181=) c.534C>G (p.Arg178=) c.405C>G (p.Arg135=) n.69+2003G>C | |
17 | g.8121817G>T | CA497955271 | HES7 | c.447C>A (p.Arg149=) c.432C>A (p.Arg144=) c.423C>A (p.Arg141=) c.552C>A (p.Arg184=) c.543C>A (p.Arg181=) c.534C>A (p.Arg178=) c.405C>A (p.Arg135=) n.69+2003G>T | gnomAD v4 |
17 | g.8121818C>A | CA397988117 | HES7 | c.446G>T (p.Arg149Leu) c.431G>T (p.Arg144Leu) c.422G>T (p.Arg141Leu) c.551G>T (p.Arg184Leu) c.542G>T (p.Arg181Leu) c.533G>T (p.Arg178Leu) c.404G>T (p.Arg135Leu) n.69+2004C>A | |
17 | g.8121818C= | CA2246160379 | HES7 | c.446G= (p.Arg149=) c.431G= (p.Arg144=) c.422G= (p.Arg141=) c.551G= (p.Arg184=) c.542G= (p.Arg181=) c.533G= (p.Arg178=) c.404G= (p.Arg135=) n.69+2004C= | |
17 | g.8121818C>G | CA397988119 | HES7 | c.446G>C (p.Arg149Pro) c.431G>C (p.Arg144Pro) c.422G>C (p.Arg141Pro) c.551G>C (p.Arg184Pro) c.542G>C (p.Arg181Pro) c.533G>C (p.Arg178Pro) c.404G>C (p.Arg135Pro) n.69+2004C>G | |
17 | g.8121818C>T | CA397988121 | HES7 | c.446G>A (p.Arg149His) c.431G>A (p.Arg144His) c.422G>A (p.Arg141His) c.551G>A (p.Arg184His) c.542G>A (p.Arg181His) c.533G>A (p.Arg178His) c.404G>A (p.Arg135His) n.69+2004C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8121819G>A | CA397988124 | HES7 | c.445C>T (p.Arg149Cys) c.430C>T (p.Arg144Cys) c.421C>T (p.Arg141Cys) c.550C>T (p.Arg184Cys) c.541C>T (p.Arg181Cys) c.532C>T (p.Arg178Cys) c.403C>T (p.Arg135Cys) n.69+2005G>A | gnomAD v4 |
17 | g.8121819G>C | CA397988126 | HES7 | c.445C>G (p.Arg149Gly) c.430C>G (p.Arg144Gly) c.421C>G (p.Arg141Gly) c.550C>G (p.Arg184Gly) c.541C>G (p.Arg181Gly) c.532C>G (p.Arg178Gly) c.403C>G (p.Arg135Gly) n.69+2005G>C | |
17 | g.8121819G>T | CA397988123 | HES7 | c.445C>A (p.Arg149Ser) c.430C>A (p.Arg144Ser) c.421C>A (p.Arg141Ser) c.550C>A (p.Arg184Ser) c.541C>A (p.Arg181Ser) c.532C>A (p.Arg178Ser) c.403C>A (p.Arg135Ser) n.69+2005G>T | gnomAD v4 |
17 | g.8121820C>A | CA497955277 | HES7 | c.444G>T (p.Pro148=) c.429G>T (p.Pro143=) c.420G>T (p.Pro140=) c.549G>T (p.Pro183=) c.540G>T (p.Pro180=) c.531G>T (p.Pro177=) c.402G>T (p.Pro134=) n.69+2006C>A | gnomAD v4 |
17 | g.8121820C= | CA2246160384 | HES7 | c.444G= (p.Pro148=) c.429G= (p.Pro143=) c.420G= (p.Pro140=) c.549G= (p.Pro183=) c.540G= (p.Pro180=) c.531G= (p.Pro177=) c.402G= (p.Pro134=) n.69+2006C= | |
17 | g.8121820C>G | CA497955279 | HES7 | c.444G>C (p.Pro148=) c.429G>C (p.Pro143=) c.420G>C (p.Pro140=) c.549G>C (p.Pro183=) c.540G>C (p.Pro180=) c.531G>C (p.Pro177=) c.402G>C (p.Pro134=) n.69+2006C>G | |
17 | g.8121820C>T | CA8368628 | HES7 | c.444G>A (p.Pro148=) c.429G>A (p.Pro143=) c.420G>A (p.Pro140=) c.549G>A (p.Pro183=) c.540G>A (p.Pro180=) c.531G>A (p.Pro177=) c.402G>A (p.Pro134=) n.69+2006C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121821G>A | CA397988129 | HES7 | c.443C>T (p.Pro148Leu) c.428C>T (p.Pro143Leu) c.419C>T (p.Pro140Leu) c.548C>T (p.Pro183Leu) c.539C>T (p.Pro180Leu) c.530C>T (p.Pro177Leu) c.401C>T (p.Pro134Leu) n.69+2007G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121821G>C | CA397988133 | HES7 | c.443C>G (p.Pro148Arg) c.428C>G (p.Pro143Arg) c.419C>G (p.Pro140Arg) c.548C>G (p.Pro183Arg) c.539C>G (p.Pro180Arg) c.530C>G (p.Pro177Arg) c.401C>G (p.Pro134Arg) n.69+2007G>C | gnomAD v4 |
17 | g.8121821G= | CA2246160389 | HES7 | c.443C= (p.Pro148=) c.428C= (p.Pro143=) c.419C= (p.Pro140=) c.548C= (p.Pro183=) c.539C= (p.Pro180=) c.530C= (p.Pro177=) c.401C= (p.Pro134=) n.69+2007G= | |
17 | g.8121821G>T | CA397988131 | HES7 | c.443C>A (p.Pro148Gln) c.428C>A (p.Pro143Gln) c.419C>A (p.Pro140Gln) c.548C>A (p.Pro183Gln) c.539C>A (p.Pro180Gln) c.530C>A (p.Pro177Gln) c.401C>A (p.Pro134Gln) n.69+2007G>T | gnomAD v4 |
17 | g.8121822G>A | CA8368629 | HES7 | c.442C>T (p.Pro148Ser) c.427C>T (p.Pro143Ser) c.418C>T (p.Pro140Ser) c.547C>T (p.Pro183Ser) c.538C>T (p.Pro180Ser) c.529C>T (p.Pro177Ser) c.400C>T (p.Pro134Ser) n.69+2008G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121822G>C | CA397988138 | HES7 | c.442C>G (p.Pro148Ala) c.427C>G (p.Pro143Ala) c.418C>G (p.Pro140Ala) c.547C>G (p.Pro183Ala) c.538C>G (p.Pro180Ala) c.529C>G (p.Pro177Ala) c.400C>G (p.Pro134Ala) n.69+2008G>C | |
17 | g.8121822G= | CA2246160398 | HES7 | c.442C= (p.Pro148=) c.427C= (p.Pro143=) c.418C= (p.Pro140=) c.547C= (p.Pro183=) c.538C= (p.Pro180=) c.529C= (p.Pro177=) c.400C= (p.Pro134=) n.69+2008G= | |
17 | g.8121822G>T | CA397988135 | HES7 | c.442C>A (p.Pro148Thr) c.427C>A (p.Pro143Thr) c.418C>A (p.Pro140Thr) c.547C>A (p.Pro183Thr) c.538C>A (p.Pro180Thr) c.529C>A (p.Pro177Thr) c.400C>A (p.Pro134Thr) n.69+2008G>T | gnomAD v4 |
17 | g.8121823C>A | CA497955283 | HES7 | c.441G>T (p.Ala147=) c.426G>T (p.Ala142=) c.417G>T (p.Ala139=) c.546G>T (p.Ala182=) c.537G>T (p.Ala179=) c.528G>T (p.Ala176=) c.399G>T (p.Ala133=) n.69+2009C>A | gnomAD v4 |
17 | g.8121823C= | CA2246160401 | HES7 | c.441G= (p.Ala147=) c.426G= (p.Ala142=) c.417G= (p.Ala139=) c.546G= (p.Ala182=) c.537G= (p.Ala179=) c.528G= (p.Ala176=) c.399G= (p.Ala133=) n.69+2009C= | |
17 | g.8121823C>G | CA497955288 | HES7 | c.441G>C (p.Ala147=) c.426G>C (p.Ala142=) c.417G>C (p.Ala139=) c.546G>C (p.Ala182=) c.537G>C (p.Ala179=) c.528G>C (p.Ala176=) c.399G>C (p.Ala133=) n.69+2009C>G | |
17 | g.8121823C>T | CA287537174 | HES7 | c.441G>A (p.Ala147=) c.426G>A (p.Ala142=) c.417G>A (p.Ala139=) c.546G>A (p.Ala182=) c.537G>A (p.Ala179=) c.528G>A (p.Ala176=) c.399G>A (p.Ala133=) n.69+2009C>T | dbSNP gnomAD v4 |
17 | g.8121824G>A | CA397988140 | HES7 | c.440C>T (p.Ala147Val) c.425C>T (p.Ala142Val) c.416C>T (p.Ala139Val) c.545C>T (p.Ala182Val) c.536C>T (p.Ala179Val) c.527C>T (p.Ala176Val) c.398C>T (p.Ala133Val) n.69+2010G>A | gnomAD v4 |
17 | g.8121824G>C | CA8368630 | HES7 | c.440C>G (p.Ala147Gly) c.425C>G (p.Ala142Gly) c.416C>G (p.Ala139Gly) c.545C>G (p.Ala182Gly) c.536C>G (p.Ala179Gly) c.527C>G (p.Ala176Gly) c.398C>G (p.Ala133Gly) n.69+2010G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121824G= | CA2246160407 | HES7 | c.440C= (p.Ala147=) c.425C= (p.Ala142=) c.416C= (p.Ala139=) c.545C= (p.Ala182=) c.536C= (p.Ala179=) c.527C= (p.Ala176=) c.398C= (p.Ala133=) n.69+2010G= | |
17 | g.8121824G>T | CA397988144 | HES7 | c.440C>A (p.Ala147Glu) c.425C>A (p.Ala142Glu) c.416C>A (p.Ala139Glu) c.545C>A (p.Ala182Glu) c.536C>A (p.Ala179Glu) c.527C>A (p.Ala176Glu) c.398C>A (p.Ala133Glu) n.69+2010G>T | gnomAD v4 |
17 | g.8121825C>A | CA397988145 | HES7 | c.439G>T (p.Ala147Ser) c.424G>T (p.Ala142Ser) c.415G>T (p.Ala139Ser) c.544G>T (p.Ala182Ser) c.535G>T (p.Ala179Ser) c.526G>T (p.Ala176Ser) c.397G>T (p.Ala133Ser) n.69+2011C>A | gnomAD v4 |
17 | g.8121825C>G | CA397988146 | HES7 | c.439G>C (p.Ala147Pro) c.424G>C (p.Ala142Pro) c.415G>C (p.Ala139Pro) c.544G>C (p.Ala182Pro) c.535G>C (p.Ala179Pro) c.526G>C (p.Ala176Pro) c.397G>C (p.Ala133Pro) n.69+2011C>G | dbSNP |
17 | g.8121825C>T | CA397988147 | HES7 | c.439G>A (p.Ala147Thr) c.424G>A (p.Ala142Thr) c.415G>A (p.Ala139Thr) c.544G>A (p.Ala182Thr) c.535G>A (p.Ala179Thr) c.526G>A (p.Ala176Thr) c.397G>A (p.Ala133Thr) n.69+2011C>T | |
17 | g.8121826T>A | CA497955292 | HES7 | c.438A>T (p.Pro146=) c.423A>T (p.Pro141=) c.414A>T (p.Pro138=) c.543A>T (p.Pro181=) c.534A>T (p.Pro178=) c.525A>T (p.Pro175=) c.396A>T (p.Pro132=) n.69+2012T>A | |
17 | g.8121826T>C | CA497955293 | HES7 | c.438A>G (p.Pro146=) c.423A>G (p.Pro141=) c.414A>G (p.Pro138=) c.543A>G (p.Pro181=) c.534A>G (p.Pro178=) c.525A>G (p.Pro175=) c.396A>G (p.Pro132=) n.69+2012T>C | |
17 | g.8121826T>G | CA497955295 | HES7 | c.438A>C (p.Pro146=) c.423A>C (p.Pro141=) c.414A>C (p.Pro138=) c.543A>C (p.Pro181=) c.534A>C (p.Pro178=) c.525A>C (p.Pro175=) c.396A>C (p.Pro132=) n.69+2012T>G | |
17 | g.8121827G>A | CA397988148 | HES7 | c.437C>T (p.Pro146Leu) c.422C>T (p.Pro141Leu) c.413C>T (p.Pro138Leu) c.542C>T (p.Pro181Leu) c.533C>T (p.Pro178Leu) c.524C>T (p.Pro175Leu) c.395C>T (p.Pro132Leu) n.69+2013G>A | dbSNP gnomAD v4 |
17 | g.8121827G>C | CA397988149 | HES7 | c.437C>G (p.Pro146Arg) c.422C>G (p.Pro141Arg) c.413C>G (p.Pro138Arg) c.542C>G (p.Pro181Arg) c.533C>G (p.Pro178Arg) c.524C>G (p.Pro175Arg) c.395C>G (p.Pro132Arg) n.69+2013G>C | |
17 | g.8121827G= | CA2246160411 | HES7 | c.437C= (p.Pro146=) c.422C= (p.Pro141=) c.413C= (p.Pro138=) c.542C= (p.Pro181=) c.533C= (p.Pro178=) c.524C= (p.Pro175=) c.395C= (p.Pro132=) n.69+2013G= | |
17 | g.8121827G>T | CA287537176 | HES7 | c.437C>A (p.Pro146Gln) c.422C>A (p.Pro141Gln) c.413C>A (p.Pro138Gln) c.542C>A (p.Pro181Gln) c.533C>A (p.Pro178Gln) c.524C>A (p.Pro175Gln) c.395C>A (p.Pro132Gln) n.69+2013G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121828G>A | CA397988150 | HES7 | c.436C>T (p.Pro146Ser) c.421C>T (p.Pro141Ser) c.412C>T (p.Pro138Ser) c.541C>T (p.Pro181Ser) c.532C>T (p.Pro178Ser) c.523C>T (p.Pro175Ser) c.394C>T (p.Pro132Ser) n.69+2014G>A | gnomAD v4 |
17 | g.8121828G>C | CA287537181 | HES7 | c.436C>G (p.Pro146Ala) c.421C>G (p.Pro141Ala) c.412C>G (p.Pro138Ala) c.541C>G (p.Pro181Ala) c.532C>G (p.Pro178Ala) c.523C>G (p.Pro175Ala) c.394C>G (p.Pro132Ala) n.69+2014G>C | dbSNP gnomAD v4 |
17 | g.8121828G= | CA2246160416 | HES7 | c.436C= (p.Pro146=) c.421C= (p.Pro141=) c.412C= (p.Pro138=) c.541C= (p.Pro181=) c.532C= (p.Pro178=) c.523C= (p.Pro175=) c.394C= (p.Pro132=) n.69+2014G= | |
17 | g.8121828G>T | CA397988151 | HES7 | c.436C>A (p.Pro146Thr) c.421C>A (p.Pro141Thr) c.412C>A (p.Pro138Thr) c.541C>A (p.Pro181Thr) c.532C>A (p.Pro178Thr) c.523C>A (p.Pro175Thr) c.394C>A (p.Pro132Thr) n.69+2014G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121829A>C | CA497955302 | HES7 | c.435T>G (p.Pro145=) c.420T>G (p.Pro140=) c.411T>G (p.Pro137=) c.540T>G (p.Pro180=) c.531T>G (p.Pro177=) c.522T>G (p.Pro174=) c.393T>G (p.Pro131=) n.69+2015A>C | gnomAD v4 |
17 | g.8121829A>G | CA497955304 | HES7 | c.435T>C (p.Pro145=) c.420T>C (p.Pro140=) c.411T>C (p.Pro137=) c.540T>C (p.Pro180=) c.531T>C (p.Pro177=) c.522T>C (p.Pro174=) c.393T>C (p.Pro131=) n.69+2015A>G | gnomAD v4 |
17 | g.8121829A>T | CA497955306 | HES7 | c.435T>A (p.Pro145=) c.420T>A (p.Pro140=) c.411T>A (p.Pro137=) c.540T>A (p.Pro180=) c.531T>A (p.Pro177=) c.522T>A (p.Pro174=) c.393T>A (p.Pro131=) n.69+2015A>T | |
17 | g.8121830G>A | CA397988152 | HES7 | c.434C>T (p.Pro145Leu) c.419C>T (p.Pro140Leu) c.410C>T (p.Pro137Leu) c.539C>T (p.Pro180Leu) c.530C>T (p.Pro177Leu) c.521C>T (p.Pro174Leu) c.392C>T (p.Pro131Leu) n.69+2016G>A | gnomAD v4 |
17 | g.8121830G>C | CA397988155 | HES7 | c.434C>G (p.Pro145Arg) c.419C>G (p.Pro140Arg) c.410C>G (p.Pro137Arg) c.539C>G (p.Pro180Arg) c.530C>G (p.Pro177Arg) c.521C>G (p.Pro174Arg) c.392C>G (p.Pro131Arg) n.69+2016G>C | |
17 | g.8121830G>T | CA397988154 | HES7 | c.434C>A (p.Pro145His) c.419C>A (p.Pro140His) c.410C>A (p.Pro137His) c.539C>A (p.Pro180His) c.530C>A (p.Pro177His) c.521C>A (p.Pro174His) c.392C>A (p.Pro131His) n.69+2016G>T | gnomAD v4 |
17 | g.8121831G>A | CA397988156 | HES7 | c.433C>T (p.Pro145Ser) c.418C>T (p.Pro140Ser) c.409C>T (p.Pro137Ser) c.538C>T (p.Pro180Ser) c.529C>T (p.Pro177Ser) c.520C>T (p.Pro174Ser) c.391C>T (p.Pro131Ser) n.69+2017G>A | gnomAD v4 |
17 | g.8121831G>C | CA397988158 | HES7 | c.433C>G (p.Pro145Ala) c.418C>G (p.Pro140Ala) c.409C>G (p.Pro137Ala) c.538C>G (p.Pro180Ala) c.529C>G (p.Pro177Ala) c.520C>G (p.Pro174Ala) c.391C>G (p.Pro131Ala) n.69+2017G>C | |
17 | g.8121831G>T | CA397988159 | HES7 | c.433C>A (p.Pro145Thr) c.418C>A (p.Pro140Thr) c.409C>A (p.Pro137Thr) c.538C>A (p.Pro180Thr) c.529C>A (p.Pro177Thr) c.520C>A (p.Pro174Thr) c.391C>A (p.Pro131Thr) n.69+2017G>T | gnomAD v4 |
17 | g.8121832C>A | CA397988160 | HES7 | c.432G>T (p.Arg144Ser) c.417G>T (p.Arg139Ser) c.408G>T (p.Arg136Ser) c.537G>T (p.Arg179Ser) c.528G>T (p.Arg176Ser) c.519G>T (p.Arg173Ser) c.390G>T (p.Arg130Ser) n.69+2018C>A | dbSNP gnomAD v4 |
17 | g.8121832C= | CA2246160421 | HES7 | c.432G= (p.Arg144=) c.417G= (p.Arg139=) c.408G= (p.Arg136=) c.537G= (p.Arg179=) c.528G= (p.Arg176=) c.519G= (p.Arg173=) c.390G= (p.Arg130=) n.69+2018C= | |
17 | g.8121832C>G | CA397988161 | HES7 | c.432G>C (p.Arg144Ser) c.417G>C (p.Arg139Ser) c.408G>C (p.Arg136Ser) c.537G>C (p.Arg179Ser) c.528G>C (p.Arg176Ser) c.519G>C (p.Arg173Ser) c.390G>C (p.Arg130Ser) n.69+2018C>G | |
17 | g.8121832C>T | CA497955309 | HES7 | c.432G>A (p.Arg144=) c.417G>A (p.Arg139=) c.408G>A (p.Arg136=) c.537G>A (p.Arg179=) c.528G>A (p.Arg176=) c.519G>A (p.Arg173=) c.390G>A (p.Arg130=) n.69+2018C>T | |
17 | g.8121833C>A | CA397988163 | HES7 | c.431G>T (p.Arg144Met) c.416G>T (p.Arg139Met) c.407G>T (p.Arg136Met) c.536G>T (p.Arg179Met) c.527G>T (p.Arg176Met) c.518G>T (p.Arg173Met) c.389G>T (p.Arg130Met) n.69+2019C>A | gnomAD v4 |
17 | g.8121833C= | CA2246160424 | HES7 | c.431G= (p.Arg144=) c.416G= (p.Arg139=) c.407G= (p.Arg136=) c.536G= (p.Arg179=) c.527G= (p.Arg176=) c.518G= (p.Arg173=) c.389G= (p.Arg130=) n.69+2019C= | |
17 | g.8121833C>G | CA397988166 | HES7 | c.431G>C (p.Arg144Thr) c.416G>C (p.Arg139Thr) c.407G>C (p.Arg136Thr) c.536G>C (p.Arg179Thr) c.527G>C (p.Arg176Thr) c.518G>C (p.Arg173Thr) c.389G>C (p.Arg130Thr) n.69+2019C>G | dbSNP gnomAD v2 |
17 | g.8121833C>T | CA397988168 | HES7 | c.431G>A (p.Arg144Lys) c.416G>A (p.Arg139Lys) c.407G>A (p.Arg136Lys) c.536G>A (p.Arg179Lys) c.527G>A (p.Arg176Lys) c.518G>A (p.Arg173Lys) c.389G>A (p.Arg130Lys) n.69+2019C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121834T>A | CA397988170 | HES7 | c.430A>T (p.Arg144Trp) c.415A>T (p.Arg139Trp) c.406A>T (p.Arg136Trp) c.535A>T (p.Arg179Trp) c.526A>T (p.Arg176Trp) c.517A>T (p.Arg173Trp) c.388A>T (p.Arg130Trp) n.69+2020T>A | |
17 | g.8121834T>C | CA397988172 | HES7 | c.430A>G (p.Arg144Gly) c.415A>G (p.Arg139Gly) c.406A>G (p.Arg136Gly) c.535A>G (p.Arg179Gly) c.526A>G (p.Arg176Gly) c.517A>G (p.Arg173Gly) c.388A>G (p.Arg130Gly) n.69+2020T>C | gnomAD v4 |
17 | g.8121834T>G | CA497955312 | HES7 | c.430A>C (p.Arg144=) c.415A>C (p.Arg139=) c.406A>C (p.Arg136=) c.535A>C (p.Arg179=) c.526A>C (p.Arg176=) c.517A>C (p.Arg173=) c.388A>C (p.Arg130=) n.69+2020T>G | |
17 | g.8121835C>A | CA497955313 | HES7 | c.429G>T (p.Pro143=) c.414G>T (p.Pro138=) c.405G>T (p.Pro135=) c.534G>T (p.Pro178=) c.525G>T (p.Pro175=) c.516G>T (p.Pro172=) c.387G>T (p.Pro129=) n.69+2021C>A | |
17 | g.8121835C= | CA2246160427 | HES7 | c.429G= (p.Pro143=) c.414G= (p.Pro138=) c.405G= (p.Pro135=) c.534G= (p.Pro178=) c.525G= (p.Pro175=) c.516G= (p.Pro172=) c.387G= (p.Pro129=) n.69+2021C= | |
17 | g.8121835C>G | CA8368631 | HES7 | c.429G>C (p.Pro143=) c.414G>C (p.Pro138=) c.405G>C (p.Pro135=) c.534G>C (p.Pro178=) c.525G>C (p.Pro175=) c.516G>C (p.Pro172=) c.387G>C (p.Pro129=) n.69+2021C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121835C>T | CA497955314 | HES7 | c.429G>A (p.Pro143=) c.414G>A (p.Pro138=) c.405G>A (p.Pro135=) c.534G>A (p.Pro178=) c.525G>A (p.Pro175=) c.516G>A (p.Pro172=) c.387G>A (p.Pro129=) n.69+2021C>T | |
17 | g.8121835_8121836delinsCG | CA2246160429 | HES7 | c.428_429delinsCG (p.Pro143=) c.413_414delinsCG (p.Pro138=) c.404_405delinsCG (p.Pro135=) c.533_534delinsCG (p.Pro178=) c.524_525delinsCG (p.Pro175=) c.515_516delinsCG (p.Pro172=) c.386_387delinsCG (p.Pro129=) n.69+2021_69+2022delinsCG | |
17 | g.8121836G>A | CA397988178 | HES7 | c.428C>T (p.Pro143Leu) c.413C>T (p.Pro138Leu) c.404C>T (p.Pro135Leu) c.533C>T (p.Pro178Leu) c.524C>T (p.Pro175Leu) c.515C>T (p.Pro172Leu) c.386C>T (p.Pro129Leu) n.69+2022G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121836G>C | CA8368632 | HES7 | c.428C>G (p.Pro143Arg) c.413C>G (p.Pro138Arg) c.404C>G (p.Pro135Arg) c.533C>G (p.Pro178Arg) c.524C>G (p.Pro175Arg) c.515C>G (p.Pro172Arg) c.386C>G (p.Pro129Arg) n.69+2022G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121836G= | CA2246160432 | HES7 | c.428C= (p.Pro143=) c.413C= (p.Pro138=) c.404C= (p.Pro135=) c.533C= (p.Pro178=) c.524C= (p.Pro175=) c.515C= (p.Pro172=) c.386C= (p.Pro129=) n.69+2022G= | |
17 | g.8121836G>T | CA397988176 | HES7 | c.428C>A (p.Pro143Gln) c.413C>A (p.Pro138Gln) c.404C>A (p.Pro135Gln) c.533C>A (p.Pro178Gln) c.524C>A (p.Pro175Gln) c.515C>A (p.Pro172Gln) c.386C>A (p.Pro129Gln) n.69+2022G>T | |
17 | g.8121837del | CA2246160433 | HES7 | c.428del (p.Pro143ArgfsTer?) c.413del (p.Pro138ArgfsTer?) c.404del (p.Pro135ArgfsTer?) c.533del (p.Pro178ArgfsTer?) c.524del (p.Pro175ArgfsTer?) c.515del (p.Pro172ArgfsTer?) c.386del (p.Pro129ArgfsTer?) n.69+2023del | dbSNP |
17 | g.8121837G>A | CA397988179 | HES7 | c.427C>T (p.Pro143Ser) c.412C>T (p.Pro138Ser) c.403C>T (p.Pro135Ser) c.532C>T (p.Pro178Ser) c.523C>T (p.Pro175Ser) c.514C>T (p.Pro172Ser) c.385C>T (p.Pro129Ser) n.69+2023G>A | gnomAD v4 |
17 | g.8121837G>C | CA397988181 | HES7 | c.427C>G (p.Pro143Ala) c.412C>G (p.Pro138Ala) c.403C>G (p.Pro135Ala) c.532C>G (p.Pro178Ala) c.523C>G (p.Pro175Ala) c.514C>G (p.Pro172Ala) c.385C>G (p.Pro129Ala) n.69+2023G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121837G= | CA2246160439 | HES7 | c.427C= (p.Pro143=) c.412C= (p.Pro138=) c.403C= (p.Pro135=) c.532C= (p.Pro178=) c.523C= (p.Pro175=) c.514C= (p.Pro172=) c.385C= (p.Pro129=) n.69+2023G= | |
17 | g.8121837G>T | CA8368633 | HES7 | c.427C>A (p.Pro143Thr) c.412C>A (p.Pro138Thr) c.403C>A (p.Pro135Thr) c.532C>A (p.Pro178Thr) c.523C>A (p.Pro175Thr) c.514C>A (p.Pro172Thr) c.385C>A (p.Pro129Thr) n.69+2023G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121838del | CA2576161674 | HES7 | c.426del (p.Pro143ArgfsTer?) c.411del (p.Pro138ArgfsTer?) c.402del (p.Pro135ArgfsTer?) c.531del (p.Pro178ArgfsTer?) c.522del (p.Pro175ArgfsTer?) c.513del (p.Pro172ArgfsTer?) c.384del (p.Pro129ArgfsTer?) n.69+2024del | |
17 | g.8121838A>C | CA397988185 | HES7 | c.426T>G (p.Asp142Glu) c.411T>G (p.Asp137Glu) c.402T>G (p.Asp134Glu) c.531T>G (p.Asp177Glu) c.522T>G (p.Asp174Glu) c.513T>G (p.Asp171Glu) c.384T>G (p.Asp128Glu) n.69+2024A>C | |
17 | g.8121838A>G | CA497955323 | HES7 | c.426T>C (p.Asp142=) c.411T>C (p.Asp137=) c.402T>C (p.Asp134=) c.531T>C (p.Asp177=) c.522T>C (p.Asp174=) c.513T>C (p.Asp171=) c.384T>C (p.Asp128=) n.69+2024A>G | gnomAD v4 |
17 | g.8121838A>T | CA397988186 | HES7 | c.426T>A (p.Asp142Glu) c.411T>A (p.Asp137Glu) c.402T>A (p.Asp134Glu) c.531T>A (p.Asp177Glu) c.522T>A (p.Asp174Glu) c.513T>A (p.Asp171Glu) c.384T>A (p.Asp128Glu) n.69+2024A>T | |
17 | g.8121839T>A | CA397988190 | HES7 | c.425A>T (p.Asp142Val) c.410A>T (p.Asp137Val) c.401A>T (p.Asp134Val) c.530A>T (p.Asp177Val) c.521A>T (p.Asp174Val) c.512A>T (p.Asp171Val) c.383A>T (p.Asp128Val) n.69+2025T>A | gnomAD v4 |
17 | g.8121839T>C | CA397988194 | HES7 | c.425A>G (p.Asp142Gly) c.410A>G (p.Asp137Gly) c.401A>G (p.Asp134Gly) c.530A>G (p.Asp177Gly) c.521A>G (p.Asp174Gly) c.512A>G (p.Asp171Gly) c.383A>G (p.Asp128Gly) n.69+2025T>C | dbSNP |
17 | g.8121839T>G | CA397988196 | HES7 | c.425A>C (p.Asp142Ala) c.410A>C (p.Asp137Ala) c.401A>C (p.Asp134Ala) c.530A>C (p.Asp177Ala) c.521A>C (p.Asp174Ala) c.512A>C (p.Asp171Ala) c.383A>C (p.Asp128Ala) n.69+2025T>G | |
17 | g.8121839T= | CA2246160443 | HES7 | c.425A= (p.Asp142=) c.410A= (p.Asp137=) c.401A= (p.Asp134=) c.530A= (p.Asp177=) c.521A= (p.Asp174=) c.512A= (p.Asp171=) c.383A= (p.Asp128=) n.69+2025T= | |
17 | g.8121840C>A | CA8368634 | HES7 | c.424G>T (p.Asp142Tyr) c.409G>T (p.Asp137Tyr) c.400G>T (p.Asp134Tyr) c.529G>T (p.Asp177Tyr) c.520G>T (p.Asp174Tyr) c.511G>T (p.Asp171Tyr) c.382G>T (p.Asp128Tyr) n.69+2026C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121840C= | CA2246160447 | HES7 | c.424G= (p.Asp142=) c.409G= (p.Asp137=) c.400G= (p.Asp134=) c.529G= (p.Asp177=) c.520G= (p.Asp174=) c.511G= (p.Asp171=) c.382G= (p.Asp128=) n.69+2026C= | |
17 | g.8121840C>G | CA397988199 | HES7 | c.424G>C (p.Asp142His) c.409G>C (p.Asp137His) c.400G>C (p.Asp134His) c.529G>C (p.Asp177His) c.520G>C (p.Asp174His) c.511G>C (p.Asp171His) c.382G>C (p.Asp128His) n.69+2026C>G | |
17 | g.8121840C>T | CA397988201 | HES7 | c.424G>A (p.Asp142Asn) c.409G>A (p.Asp137Asn) c.400G>A (p.Asp134Asn) c.529G>A (p.Asp177Asn) c.520G>A (p.Asp174Asn) c.511G>A (p.Asp171Asn) c.382G>A (p.Asp128Asn) n.69+2026C>T | gnomAD v4 |
17 | g.8121841T>A | CA497955329 | HES7 | c.423A>T (p.Val141=) c.408A>T (p.Val136=) c.399A>T (p.Val133=) c.528A>T (p.Val176=) c.519A>T (p.Val173=) c.510A>T (p.Val170=) c.381A>T (p.Val127=) n.69+2027T>A | |
17 | g.8121841T>C | CA497955330 | HES7 | c.423A>G (p.Val141=) c.408A>G (p.Val136=) c.399A>G (p.Val133=) c.528A>G (p.Val176=) c.519A>G (p.Val173=) c.510A>G (p.Val170=) c.381A>G (p.Val127=) n.69+2027T>C | gnomAD v4 |
17 | g.8121841T>G | CA497955331 | HES7 | c.423A>C (p.Val141=) c.408A>C (p.Val136=) c.399A>C (p.Val133=) c.528A>C (p.Val176=) c.519A>C (p.Val173=) c.510A>C (p.Val170=) c.381A>C (p.Val127=) n.69+2027T>G | |
17 | g.8121842A= | CA2246160448 | HES7 | c.422T= (p.Val141=) c.407T= (p.Val136=) c.398T= (p.Val133=) c.527T= (p.Val176=) c.518T= (p.Val173=) c.509T= (p.Val170=) c.380T= (p.Val127=) n.69+2028A= | |
17 | g.8121842A>C | CA397988202 | HES7 | c.422T>G (p.Val141Gly) c.407T>G (p.Val136Gly) c.398T>G (p.Val133Gly) c.527T>G (p.Val176Gly) c.518T>G (p.Val173Gly) c.509T>G (p.Val170Gly) c.380T>G (p.Val127Gly) n.69+2028A>C | |
17 | g.8121842A>G | CA397988205 | HES7 | c.422T>C (p.Val141Ala) c.407T>C (p.Val136Ala) c.398T>C (p.Val133Ala) c.527T>C (p.Val176Ala) c.518T>C (p.Val173Ala) c.509T>C (p.Val170Ala) c.380T>C (p.Val127Ala) n.69+2028A>G | gnomAD v4 |
17 | g.8121842A>T | CA8368636 | HES7 | c.422T>A (p.Val141Glu) c.407T>A (p.Val136Glu) c.398T>A (p.Val133Glu) c.527T>A (p.Val176Glu) c.518T>A (p.Val173Glu) c.509T>A (p.Val170Glu) c.380T>A (p.Val127Glu) n.69+2028A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121842_8121843delinsAC | CA2246160449 | HES7 | c.421_422delinsGT (p.Val141=) c.406_407delinsGT (p.Val136=) c.397_398delinsGT (p.Val133=) c.526_527delinsGT (p.Val176=) c.517_518delinsGT (p.Val173=) c.508_509delinsGT (p.Val170=) c.379_380delinsGT (p.Val127=) n.69+2028_69+2029delinsAC | |
17 | g.8121843C>A | CA397988207 | HES7 | c.421G>T (p.Val141Leu) c.406G>T (p.Val136Leu) c.397G>T (p.Val133Leu) c.526G>T (p.Val176Leu) c.517G>T (p.Val173Leu) c.508G>T (p.Val170Leu) c.379G>T (p.Val127Leu) n.69+2029C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121843C= | CA2246160454 | HES7 | c.421G= (p.Val141=) c.406G= (p.Val136=) c.397G= (p.Val133=) c.526G= (p.Val176=) c.517G= (p.Val173=) c.508G= (p.Val170=) c.379G= (p.Val127=) n.69+2029C= | |
17 | g.8121843C>G | CA397988208 | HES7 | c.421G>C (p.Val141Leu) c.406G>C (p.Val136Leu) c.397G>C (p.Val133Leu) c.526G>C (p.Val176Leu) c.517G>C (p.Val173Leu) c.508G>C (p.Val170Leu) c.379G>C (p.Val127Leu) n.69+2029C>G | |
17 | g.8121843C>T | CA397988210 | HES7 | c.421G>A (p.Val141Ile) c.406G>A (p.Val136Ile) c.397G>A (p.Val133Ile) c.526G>A (p.Val176Ile) c.517G>A (p.Val173Ile) c.508G>A (p.Val170Ile) c.379G>A (p.Val127Ile) n.69+2029C>T | gnomAD v4 |
17 | g.8121844del | CA8368635 | HES7 | c.421del (p.Val141Ter) c.406del (p.Val136Ter) c.397del (p.Val133Ter) c.526del (p.Val176Ter) c.517del (p.Val173Ter) c.508del (p.Val170Ter) c.379del (p.Val127Ter) n.69+2030del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121844C>A | CA497955340 | HES7 | c.420G>T (p.Pro140=) c.405G>T (p.Pro135=) c.396G>T (p.Pro132=) c.525G>T (p.Pro175=) c.516G>T (p.Pro172=) c.507G>T (p.Pro169=) c.378G>T (p.Pro126=) n.69+2030C>A | gnomAD v4 |
17 | g.8121844C= | CA2246160463 | HES7 | c.420G= (p.Pro140=) c.405G= (p.Pro135=) c.396G= (p.Pro132=) c.525G= (p.Pro175=) c.516G= (p.Pro172=) c.507G= (p.Pro169=) c.378G= (p.Pro126=) n.69+2030C= | |
17 | g.8121844C>G | CA497955343 | HES7 | c.420G>C (p.Pro140=) c.405G>C (p.Pro135=) c.396G>C (p.Pro132=) c.525G>C (p.Pro175=) c.516G>C (p.Pro172=) c.507G>C (p.Pro169=) c.378G>C (p.Pro126=) n.69+2030C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121844C>T | CA8368637 | HES7 | c.420G>A (p.Pro140=) c.405G>A (p.Pro135=) c.396G>A (p.Pro132=) c.525G>A (p.Pro175=) c.516G>A (p.Pro172=) c.507G>A (p.Pro169=) c.378G>A (p.Pro126=) n.69+2030C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121845G>A | CA8368638 | HES7 | c.419C>T (p.Pro140Leu) c.404C>T (p.Pro135Leu) c.395C>T (p.Pro132Leu) c.524C>T (p.Pro175Leu) c.515C>T (p.Pro172Leu) c.506C>T (p.Pro169Leu) c.377C>T (p.Pro126Leu) n.69+2031G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121845G>C | CA397988215 | HES7 | c.419C>G (p.Pro140Arg) c.404C>G (p.Pro135Arg) c.395C>G (p.Pro132Arg) c.524C>G (p.Pro175Arg) c.515C>G (p.Pro172Arg) c.506C>G (p.Pro169Arg) c.377C>G (p.Pro126Arg) n.69+2031G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121845G= | CA2246160471 | HES7 | c.419C= (p.Pro140=) c.404C= (p.Pro135=) c.395C= (p.Pro132=) c.524C= (p.Pro175=) c.515C= (p.Pro172=) c.506C= (p.Pro169=) c.377C= (p.Pro126=) n.69+2031G= | |
17 | g.8121845G>T | CA397988216 | HES7 | c.419C>A (p.Pro140Gln) c.404C>A (p.Pro135Gln) c.395C>A (p.Pro132Gln) c.524C>A (p.Pro175Gln) c.515C>A (p.Pro172Gln) c.506C>A (p.Pro169Gln) c.377C>A (p.Pro126Gln) n.69+2031G>T | gnomAD v4 |
17 | g.8121846G>A | CA8368639 | HES7 | c.418C>T (p.Pro140Ser) c.403C>T (p.Pro135Ser) c.394C>T (p.Pro132Ser) c.523C>T (p.Pro175Ser) c.514C>T (p.Pro172Ser) c.505C>T (p.Pro169Ser) c.376C>T (p.Pro126Ser) n.69+2032G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121846G>C | CA397988218 | HES7 | c.418C>G (p.Pro140Ala) c.403C>G (p.Pro135Ala) c.394C>G (p.Pro132Ala) c.523C>G (p.Pro175Ala) c.514C>G (p.Pro172Ala) c.505C>G (p.Pro169Ala) c.376C>G (p.Pro126Ala) n.69+2032G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121846G= | CA2246160476 | HES7 | c.418C= (p.Pro140=) c.403C= (p.Pro135=) c.394C= (p.Pro132=) c.523C= (p.Pro175=) c.514C= (p.Pro172=) c.505C= (p.Pro169=) c.376C= (p.Pro126=) n.69+2032G= | |
17 | g.8121846G>T | CA397988220 | HES7 | c.418C>A (p.Pro140Thr) c.403C>A (p.Pro135Thr) c.394C>A (p.Pro132Thr) c.523C>A (p.Pro175Thr) c.514C>A (p.Pro172Thr) c.505C>A (p.Pro169Thr) c.376C>A (p.Pro126Thr) n.69+2032G>T | |
17 | g.8121847C>A | CA8368640 | HES7 | c.417G>T (p.Lys139Asn) c.402G>T (p.Lys134Asn) c.393G>T (p.Lys131Asn) c.522G>T (p.Lys174Asn) c.513G>T (p.Lys171Asn) c.504G>T (p.Lys168Asn) c.375G>T (p.Lys125Asn) n.69+2033C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121847C= | CA2246160481 | HES7 | c.417G= (p.Lys139=) c.402G= (p.Lys134=) c.393G= (p.Lys131=) c.522G= (p.Lys174=) c.513G= (p.Lys171=) c.504G= (p.Lys168=) c.375G= (p.Lys125=) n.69+2033C= | |
17 | g.8121847C>G | CA397988221 | HES7 | c.417G>C (p.Lys139Asn) c.402G>C (p.Lys134Asn) c.393G>C (p.Lys131Asn) c.522G>C (p.Lys174Asn) c.513G>C (p.Lys171Asn) c.504G>C (p.Lys168Asn) c.375G>C (p.Lys125Asn) n.69+2033C>G | |
17 | g.8121847C>T | CA497955353 | HES7 | c.417G>A (p.Lys139=) c.402G>A (p.Lys134=) c.393G>A (p.Lys131=) c.522G>A (p.Lys174=) c.513G>A (p.Lys171=) c.504G>A (p.Lys168=) c.375G>A (p.Lys125=) n.69+2033C>T | |
17 | g.8121847_8121862delinsCTTGGGCCGGGGCGGT | CA2246160480 | HES7 | c.402_417delinsACCGCCCCGGCCCAAG (p.Lys134=) c.387_402delinsACCGCCCCGGCCCAAG (p.Lys129=) c.378_393delinsACCGCCCCGGCCCAAG (p.Lys126=) c.507_522delinsACCGCCCCGGCCCAAG (p.Lys169=) c.498_513delinsACCGCCCCGGCCCAAG (p.Lys166=) c.489_504delinsACCGCCCCGGCCCAAG (p.Lys163=) c.360_375delinsACCGCCCCGGCCCAAG (p.Lys120=) n.69+2033_69+2048delinsCTTGGGCCGGGGCGGT | |
17 | g.8121848T>A | CA397988224 | HES7 | c.416A>T (p.Lys139Met) c.401A>T (p.Lys134Met) c.392A>T (p.Lys131Met) c.521A>T (p.Lys174Met) c.512A>T (p.Lys171Met) c.503A>T (p.Lys168Met) c.374A>T (p.Lys125Met) n.69+2034T>A | |
17 | g.8121848T>C | CA397988226 | HES7 | c.416A>G (p.Lys139Arg) c.401A>G (p.Lys134Arg) c.392A>G (p.Lys131Arg) c.521A>G (p.Lys174Arg) c.512A>G (p.Lys171Arg) c.503A>G (p.Lys168Arg) c.374A>G (p.Lys125Arg) n.69+2034T>C | |
17 | g.8121848T>G | CA397988228 | HES7 | c.416A>C (p.Lys139Thr) c.401A>C (p.Lys134Thr) c.392A>C (p.Lys131Thr) c.521A>C (p.Lys174Thr) c.512A>C (p.Lys171Thr) c.503A>C (p.Lys168Thr) c.374A>C (p.Lys125Thr) n.69+2034T>G | |
17 | g.8121853_8121867del | CA891863123 | HES7 | c.402_416del (p.Pro135_Lys139del) c.387_401del (p.Pro130_Lys134del) c.378_392del (p.Pro127_Lys131del) c.507_521del (p.Pro170_Lys174del) c.498_512del (p.Pro167_Lys171del) c.489_503del (p.Pro164_Lys168del) c.360_374del (p.Pro121_Lys125del) n.69+2039_69+2053del | ClinVar dbSNP |
17 | g.8121849T>A | CA397988230 | HES7 | c.415A>T (p.Lys139Ter) c.400A>T (p.Lys134Ter) c.391A>T (p.Lys131Ter) c.520A>T (p.Lys174Ter) c.511A>T (p.Lys171Ter) c.502A>T (p.Lys168Ter) c.373A>T (p.Lys125Ter) n.69+2035T>A | |
17 | g.8121849T>C | CA397988232 | HES7 | c.415A>G (p.Lys139Glu) c.400A>G (p.Lys134Glu) c.391A>G (p.Lys131Glu) c.520A>G (p.Lys174Glu) c.511A>G (p.Lys171Glu) c.502A>G (p.Lys168Glu) c.373A>G (p.Lys125Glu) n.69+2035T>C | dbSNP gnomAD v4 |
17 | g.8121849T>G | CA397988234 | HES7 | c.415A>C (p.Lys139Gln) c.400A>C (p.Lys134Gln) c.391A>C (p.Lys131Gln) c.520A>C (p.Lys174Gln) c.511A>C (p.Lys171Gln) c.502A>C (p.Lys168Gln) c.373A>C (p.Lys125Gln) n.69+2035T>G | |
17 | g.8121849T= | CA2246160489 | HES7 | c.415A= (p.Lys139=) c.400A= (p.Lys134=) c.391A= (p.Lys131=) c.520A= (p.Lys174=) c.511A= (p.Lys171=) c.502A= (p.Lys168=) c.373A= (p.Lys125=) n.69+2035T= | |
17 | g.8121850G>A | CA497955361 | HES7 | c.414C>T (p.Pro138=) c.399C>T (p.Pro133=) c.390C>T (p.Pro130=) c.519C>T (p.Pro173=) c.510C>T (p.Pro170=) c.501C>T (p.Pro167=) c.372C>T (p.Pro124=) n.69+2036G>A | |
17 | g.8121850G>C | CA287537215 | HES7 | c.414C>G (p.Pro138=) c.399C>G (p.Pro133=) c.390C>G (p.Pro130=) c.519C>G (p.Pro173=) c.510C>G (p.Pro170=) c.501C>G (p.Pro167=) c.372C>G (p.Pro124=) n.69+2036G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121850G= | CA2246160493 | HES7 | c.414C= (p.Pro138=) c.399C= (p.Pro133=) c.390C= (p.Pro130=) c.519C= (p.Pro173=) c.510C= (p.Pro170=) c.501C= (p.Pro167=) c.372C= (p.Pro124=) n.69+2036G= | |
17 | g.8121850G>T | CA287537216 | HES7 | c.414C>A (p.Pro138=) c.399C>A (p.Pro133=) c.390C>A (p.Pro130=) c.519C>A (p.Pro173=) c.510C>A (p.Pro170=) c.501C>A (p.Pro167=) c.372C>A (p.Pro124=) n.69+2036G>T | dbSNP gnomAD v4 |
17 | g.8121851G>A | CA397988238 | HES7 | c.413C>T (p.Pro138Leu) c.398C>T (p.Pro133Leu) c.389C>T (p.Pro130Leu) c.518C>T (p.Pro173Leu) c.509C>T (p.Pro170Leu) c.500C>T (p.Pro167Leu) c.371C>T (p.Pro124Leu) n.69+2037G>A | |
17 | g.8121851G>C | CA397988239 | HES7 | c.413C>G (p.Pro138Arg) c.398C>G (p.Pro133Arg) c.389C>G (p.Pro130Arg) c.518C>G (p.Pro173Arg) c.509C>G (p.Pro170Arg) c.500C>G (p.Pro167Arg) c.371C>G (p.Pro124Arg) n.69+2037G>C | gnomAD v4 |
17 | g.8121851G>T | CA397988241 | HES7 | c.413C>A (p.Pro138His) c.398C>A (p.Pro133His) c.389C>A (p.Pro130His) c.518C>A (p.Pro173His) c.509C>A (p.Pro170His) c.500C>A (p.Pro167His) c.371C>A (p.Pro124His) n.69+2037G>T | gnomAD v4 |
17 | g.8121852G>A | CA397988243 | HES7 | c.412C>T (p.Pro138Ser) c.397C>T (p.Pro133Ser) c.388C>T (p.Pro130Ser) c.517C>T (p.Pro173Ser) c.508C>T (p.Pro170Ser) c.499C>T (p.Pro167Ser) c.370C>T (p.Pro124Ser) n.69+2038G>A | gnomAD v4 |
17 | g.8121852G>C | CA397988244 | HES7 | c.412C>G (p.Pro138Ala) c.397C>G (p.Pro133Ala) c.388C>G (p.Pro130Ala) c.517C>G (p.Pro173Ala) c.508C>G (p.Pro170Ala) c.499C>G (p.Pro167Ala) c.370C>G (p.Pro124Ala) n.69+2038G>C | |
17 | g.8121852G>T | CA397988246 | HES7 | c.412C>A (p.Pro138Thr) c.397C>A (p.Pro133Thr) c.388C>A (p.Pro130Thr) c.517C>A (p.Pro173Thr) c.508C>A (p.Pro170Thr) c.499C>A (p.Pro167Thr) c.370C>A (p.Pro124Thr) n.69+2038G>T | gnomAD v4 |
17 | g.8121853C>A | CA497955370 | HES7 | c.411G>T (p.Arg137=) c.396G>T (p.Arg132=) c.387G>T (p.Arg129=) c.516G>T (p.Arg172=) c.507G>T (p.Arg169=) c.498G>T (p.Arg166=) c.369G>T (p.Arg123=) n.69+2039C>A | |
17 | g.8121853C= | CA2246160499 | HES7 | c.411G= (p.Arg137=) c.396G= (p.Arg132=) c.387G= (p.Arg129=) c.516G= (p.Arg172=) c.507G= (p.Arg169=) c.498G= (p.Arg166=) c.369G= (p.Arg123=) n.69+2039C= | |
17 | g.8121853C>G | CA497955373 | HES7 | c.411G>C (p.Arg137=) c.396G>C (p.Arg132=) c.387G>C (p.Arg129=) c.516G>C (p.Arg172=) c.507G>C (p.Arg169=) c.498G>C (p.Arg166=) c.369G>C (p.Arg123=) n.69+2039C>G | |
17 | g.8121853C>T | CA497955375 | HES7 | c.411G>A (p.Arg137=) c.396G>A (p.Arg132=) c.387G>A (p.Arg129=) c.516G>A (p.Arg172=) c.507G>A (p.Arg169=) c.498G>A (p.Arg166=) c.369G>A (p.Arg123=) n.69+2039C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121854C>A | CA397988251 | HES7 | c.410G>T (p.Arg137Leu) c.395G>T (p.Arg132Leu) c.386G>T (p.Arg129Leu) c.515G>T (p.Arg172Leu) c.506G>T (p.Arg169Leu) c.497G>T (p.Arg166Leu) c.368G>T (p.Arg123Leu) n.69+2040C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121854C= | CA2246160506 | HES7 | c.410G= (p.Arg137=) c.395G= (p.Arg132=) c.386G= (p.Arg129=) c.515G= (p.Arg172=) c.506G= (p.Arg169=) c.497G= (p.Arg166=) c.368G= (p.Arg123=) n.69+2040C= | |
17 | g.8121854C>G | CA397988248 | HES7 | c.410G>C (p.Arg137Pro) c.395G>C (p.Arg132Pro) c.386G>C (p.Arg129Pro) c.515G>C (p.Arg172Pro) c.506G>C (p.Arg169Pro) c.497G>C (p.Arg166Pro) c.368G>C (p.Arg123Pro) n.69+2040C>G | |
17 | g.8121854C>T | CA397988250 | HES7 | c.410G>A (p.Arg137Gln) c.395G>A (p.Arg132Gln) c.386G>A (p.Arg129Gln) c.515G>A (p.Arg172Gln) c.506G>A (p.Arg169Gln) c.497G>A (p.Arg166Gln) c.368G>A (p.Arg123Gln) n.69+2040C>T | gnomAD v4 |
17 | g.8121855G>A | CA397988256 | HES7 | c.409C>T (p.Arg137Trp) c.394C>T (p.Arg132Trp) c.385C>T (p.Arg129Trp) c.514C>T (p.Arg172Trp) c.505C>T (p.Arg169Trp) c.496C>T (p.Arg166Trp) c.367C>T (p.Arg123Trp) n.69+2041G>A | dbSNP gnomAD v4 |
17 | g.8121855G>C | CA8368641 | HES7 | c.409C>G (p.Arg137Gly) c.394C>G (p.Arg132Gly) c.385C>G (p.Arg129Gly) c.514C>G (p.Arg172Gly) c.505C>G (p.Arg169Gly) c.496C>G (p.Arg166Gly) c.367C>G (p.Arg123Gly) n.69+2041G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121855G= | CA2246160518 | HES7 | c.409C= (p.Arg137=) c.394C= (p.Arg132=) c.385C= (p.Arg129=) c.514C= (p.Arg172=) c.505C= (p.Arg169=) c.496C= (p.Arg166=) c.367C= (p.Arg123=) n.69+2041G= | |
17 | g.8121855G>T | CA287537218 | HES7 | c.409C>A (p.Arg137=) c.394C>A (p.Arg132=) c.385C>A (p.Arg129=) c.514C>A (p.Arg172=) c.505C>A (p.Arg169=) c.496C>A (p.Arg166=) c.367C>A (p.Arg123=) n.69+2041G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121858del | CA2635937844 | HES7 | c.409del (p.Arg137GlyfsTer5) c.394del (p.Arg132GlyfsTer5) c.385del (p.Arg129GlyfsTer5) c.514del (p.Arg172GlyfsTer5) c.505del (p.Arg169GlyfsTer5) c.496del (p.Arg166GlyfsTer5) c.367del (p.Arg123GlyfsTer5) n.69+2044del | gnomAD v4 |
17 | g.8121861_8121870dup | CA145465 | HES7 | c.400_409dup (p.Arg137GlnfsTer?) c.385_394dup (p.Arg132GlnfsTer?) c.376_385dup (p.Arg129GlnfsTer?) c.505_514dup (p.Arg172GlnfsTer?) c.496_505dup (p.Arg169GlnfsTer?) c.487_496dup (p.Arg166GlnfsTer?) c.358_367dup (p.Arg123GlnfsTer?) n.69+2047_69+2056dup | ClinVar dbSNP |
17 | g.8121856G>A | CA497955390 | HES7 | c.408C>T (p.Pro136=) c.393C>T (p.Pro131=) c.384C>T (p.Pro128=) c.513C>T (p.Pro171=) c.504C>T (p.Pro168=) c.495C>T (p.Pro165=) c.366C>T (p.Pro122=) n.69+2042G>A | |
17 | g.8121856G>C | CA497955389 | HES7 | c.408C>G (p.Pro136=) c.393C>G (p.Pro131=) c.384C>G (p.Pro128=) c.513C>G (p.Pro171=) c.504C>G (p.Pro168=) c.495C>G (p.Pro165=) c.366C>G (p.Pro122=) n.69+2042G>C | dbSNP gnomAD v4 |
17 | g.8121856G= | CA2246160526 | HES7 | c.408C= (p.Pro136=) c.393C= (p.Pro131=) c.384C= (p.Pro128=) c.513C= (p.Pro171=) c.504C= (p.Pro168=) c.495C= (p.Pro165=) c.366C= (p.Pro122=) n.69+2042G= | |
17 | g.8121856G>T | CA497955388 | HES7 | c.408C>A (p.Pro136=) c.393C>A (p.Pro131=) c.384C>A (p.Pro128=) c.513C>A (p.Pro171=) c.504C>A (p.Pro168=) c.495C>A (p.Pro165=) c.366C>A (p.Pro122=) n.69+2042G>T | gnomAD v4 |
17 | g.8121857G>A | CA397988259 | HES7 | c.407C>T (p.Pro136Leu) c.392C>T (p.Pro131Leu) c.383C>T (p.Pro128Leu) c.512C>T (p.Pro171Leu) c.503C>T (p.Pro168Leu) c.494C>T (p.Pro165Leu) c.365C>T (p.Pro122Leu) n.69+2043G>A | |
17 | g.8121857G>C | CA397988261 | HES7 | c.407C>G (p.Pro136Arg) c.392C>G (p.Pro131Arg) c.383C>G (p.Pro128Arg) c.512C>G (p.Pro171Arg) c.503C>G (p.Pro168Arg) c.494C>G (p.Pro165Arg) c.365C>G (p.Pro122Arg) n.69+2043G>C | |
17 | g.8121857G>T | CA397988263 | HES7 | c.407C>A (p.Pro136His) c.392C>A (p.Pro131His) c.383C>A (p.Pro128His) c.512C>A (p.Pro171His) c.503C>A (p.Pro168His) c.494C>A (p.Pro165His) c.365C>A (p.Pro122His) n.69+2043G>T | |
17 | g.8121858G>A | CA397988265 | HES7 | c.406C>T (p.Pro136Ser) c.391C>T (p.Pro131Ser) c.382C>T (p.Pro128Ser) c.511C>T (p.Pro171Ser) c.502C>T (p.Pro168Ser) c.493C>T (p.Pro165Ser) c.364C>T (p.Pro122Ser) n.69+2044G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121858G>C | CA397988267 | HES7 | c.406C>G (p.Pro136Ala) c.391C>G (p.Pro131Ala) c.382C>G (p.Pro128Ala) c.511C>G (p.Pro171Ala) c.502C>G (p.Pro168Ala) c.493C>G (p.Pro165Ala) c.364C>G (p.Pro122Ala) n.69+2044G>C | |
17 | g.8121858G= | CA2246160531 | HES7 | c.406C= (p.Pro136=) c.391C= (p.Pro131=) c.382C= (p.Pro128=) c.511C= (p.Pro171=) c.502C= (p.Pro168=) c.493C= (p.Pro165=) c.364C= (p.Pro122=) n.69+2044G= | |
17 | g.8121858G>T | CA8368642 | HES7 | c.406C>A (p.Pro136Thr) c.391C>A (p.Pro131Thr) c.382C>A (p.Pro128Thr) c.511C>A (p.Pro171Thr) c.502C>A (p.Pro168Thr) c.493C>A (p.Pro165Thr) c.364C>A (p.Pro122Thr) n.69+2044G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121859C>A | CA287537220 | HES7 | c.405G>T (p.Pro135=) c.390G>T (p.Pro130=) c.381G>T (p.Pro127=) c.510G>T (p.Pro170=) c.501G>T (p.Pro167=) c.492G>T (p.Pro164=) c.363G>T (p.Pro121=) n.69+2045C>A | dbSNP |
17 | g.8121859C= | CA2246160535 | HES7 | c.405G= (p.Pro135=) c.390G= (p.Pro130=) c.381G= (p.Pro127=) c.510G= (p.Pro170=) c.501G= (p.Pro167=) c.492G= (p.Pro164=) c.363G= (p.Pro121=) n.69+2045C= | |
17 | g.8121859C>G | CA497955395 | HES7 | c.405G>C (p.Pro135=) c.390G>C (p.Pro130=) c.381G>C (p.Pro127=) c.510G>C (p.Pro170=) c.501G>C (p.Pro167=) c.492G>C (p.Pro164=) c.363G>C (p.Pro121=) n.69+2045C>G | |
17 | g.8121859C>T | CA497955396 | HES7 | c.405G>A (p.Pro135=) c.390G>A (p.Pro130=) c.381G>A (p.Pro127=) c.510G>A (p.Pro170=) c.501G>A (p.Pro167=) c.492G>A (p.Pro164=) c.363G>A (p.Pro121=) n.69+2045C>T | gnomAD v4 |
17 | g.8121860G>A | CA8368643 | HES7 | c.404C>T (p.Pro135Leu) c.389C>T (p.Pro130Leu) c.380C>T (p.Pro127Leu) c.509C>T (p.Pro170Leu) c.500C>T (p.Pro167Leu) c.491C>T (p.Pro164Leu) c.362C>T (p.Pro121Leu) n.69+2046G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8121860G>C | CA397988271 | HES7 | c.404C>G (p.Pro135Arg) c.389C>G (p.Pro130Arg) c.380C>G (p.Pro127Arg) c.509C>G (p.Pro170Arg) c.500C>G (p.Pro167Arg) c.491C>G (p.Pro164Arg) c.362C>G (p.Pro121Arg) n.69+2046G>C | |
17 | g.8121860G= | CA2246160542 | HES7 | c.404C= (p.Pro135=) c.389C= (p.Pro130=) c.380C= (p.Pro127=) c.509C= (p.Pro170=) c.500C= (p.Pro167=) c.491C= (p.Pro164=) c.362C= (p.Pro121=) n.69+2046G= | |
17 | g.8121860G>T | CA397988273 | HES7 | c.404C>A (p.Pro135Gln) c.389C>A (p.Pro130Gln) c.380C>A (p.Pro127Gln) c.509C>A (p.Pro170Gln) c.500C>A (p.Pro167Gln) c.491C>A (p.Pro164Gln) c.362C>A (p.Pro121Gln) n.69+2046G>T | gnomAD v4 |
17 | g.8121861G>A | CA287537246 | HES7 | c.403C>T (p.Pro135Ser) c.388C>T (p.Pro130Ser) c.379C>T (p.Pro127Ser) c.508C>T (p.Pro170Ser) c.499C>T (p.Pro167Ser) c.490C>T (p.Pro164Ser) c.361C>T (p.Pro121Ser) n.69+2047G>A | ClinVar dbSNP gnomAD v4 |
17 | g.8121861G>C | CA397988277 | HES7 | c.403C>G (p.Pro135Ala) c.388C>G (p.Pro130Ala) c.379C>G (p.Pro127Ala) c.508C>G (p.Pro170Ala) c.499C>G (p.Pro167Ala) c.490C>G (p.Pro164Ala) c.361C>G (p.Pro121Ala) n.69+2047G>C | |
17 | g.8121861G= | CA2246160546 | HES7 | c.403C= (p.Pro135=) c.388C= (p.Pro130=) c.379C= (p.Pro127=) c.508C= (p.Pro170=) c.499C= (p.Pro167=) c.490C= (p.Pro164=) c.361C= (p.Pro121=) n.69+2047G= | |
17 | g.8121861G>T | CA397988275 | HES7 | c.403C>A (p.Pro135Thr) c.388C>A (p.Pro130Thr) c.379C>A (p.Pro127Thr) c.508C>A (p.Pro170Thr) c.499C>A (p.Pro167Thr) c.490C>A (p.Pro164Thr) c.361C>A (p.Pro121Thr) n.69+2047G>T | |
17 | g.8121862T>A | CA397988281 | HES7 | c.402A>T (p.Lys134Asn) c.387A>T (p.Lys129Asn) c.378A>T (p.Lys126Asn) c.507A>T (p.Lys169Asn) c.498A>T (p.Lys166Asn) c.489A>T (p.Lys163Asn) c.360A>T (p.Lys120Asn) n.69+2048T>A | |
17 | g.8121862T>C | CA8368644 | HES7 | c.402A>G (p.Lys134=) c.387A>G (p.Lys129=) c.378A>G (p.Lys126=) c.507A>G (p.Lys169=) c.498A>G (p.Lys166=) c.489A>G (p.Lys163=) c.360A>G (p.Lys120=) n.69+2048T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121862T>G | CA287537255 | HES7 | c.402A>C (p.Lys134Asn) c.387A>C (p.Lys129Asn) c.378A>C (p.Lys126Asn) c.507A>C (p.Lys169Asn) c.498A>C (p.Lys166Asn) c.489A>C (p.Lys163Asn) c.360A>C (p.Lys120Asn) n.69+2048T>G | dbSNP gnomAD v4 |
17 | g.8121862T= | CA2246160551 | HES7 | c.402A= (p.Lys134=) c.387A= (p.Lys129=) c.378A= (p.Lys126=) c.507A= (p.Lys169=) c.498A= (p.Lys166=) c.489A= (p.Lys163=) c.360A= (p.Lys120=) n.69+2048T= | |
17 | g.8121863T>A | CA397988288 | HES7 | c.401A>T (p.Lys134Ile) c.386A>T (p.Lys129Ile) c.377A>T (p.Lys126Ile) c.506A>T (p.Lys169Ile) c.497A>T (p.Lys166Ile) c.488A>T (p.Lys163Ile) c.359A>T (p.Lys120Ile) n.69+2049T>A | |
17 | g.8121863T>C | CA397988290 | HES7 | c.401A>G (p.Lys134Arg) c.386A>G (p.Lys129Arg) c.377A>G (p.Lys126Arg) c.506A>G (p.Lys169Arg) c.497A>G (p.Lys166Arg) c.488A>G (p.Lys163Arg) c.359A>G (p.Lys120Arg) n.69+2049T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121863T>G | CA397988293 | HES7 | c.401A>C (p.Lys134Thr) c.386A>C (p.Lys129Thr) c.377A>C (p.Lys126Thr) c.506A>C (p.Lys169Thr) c.497A>C (p.Lys166Thr) c.488A>C (p.Lys163Thr) c.359A>C (p.Lys120Thr) n.69+2049T>G | |
17 | g.8121863T= | CA2246160559 | HES7 | c.401A= (p.Lys134=) c.386A= (p.Lys129=) c.377A= (p.Lys126=) c.506A= (p.Lys169=) c.497A= (p.Lys166=) c.488A= (p.Lys163=) c.359A= (p.Lys120=) n.69+2049T= | |
17 | g.8121864T>A | CA397988296 | HES7 | c.400A>T (p.Lys134Ter) c.385A>T (p.Lys129Ter) c.376A>T (p.Lys126Ter) c.505A>T (p.Lys169Ter) c.496A>T (p.Lys166Ter) c.487A>T (p.Lys163Ter) c.358A>T (p.Lys120Ter) n.69+2050T>A | |
17 | g.8121864T>C | CA397988299 | HES7 | c.400A>G (p.Lys134Glu) c.385A>G (p.Lys129Glu) c.376A>G (p.Lys126Glu) c.505A>G (p.Lys169Glu) c.496A>G (p.Lys166Glu) c.487A>G (p.Lys163Glu) c.358A>G (p.Lys120Glu) n.69+2050T>C | |
17 | g.8121864T>G | CA397988302 | HES7 | c.400A>C (p.Lys134Gln) c.385A>C (p.Lys129Gln) c.376A>C (p.Lys126Gln) c.505A>C (p.Lys169Gln) c.496A>C (p.Lys166Gln) c.487A>C (p.Lys163Gln) c.358A>C (p.Lys120Gln) n.69+2050T>G | |
17 | g.8121865G>A | CA497955407 | HES7 | c.399C>T (p.Pro133=) c.384C>T (p.Pro128=) c.375C>T (p.Pro125=) c.504C>T (p.Pro168=) c.495C>T (p.Pro165=) c.486C>T (p.Pro162=) c.357C>T (p.Pro119=) n.69+2051G>A | gnomAD v4 |
17 | g.8121865G>C | CA497955408 | HES7 | c.399C>G (p.Pro133=) c.384C>G (p.Pro128=) c.375C>G (p.Pro125=) c.504C>G (p.Pro168=) c.495C>G (p.Pro165=) c.486C>G (p.Pro162=) c.357C>G (p.Pro119=) n.69+2051G>C | |
17 | g.8121865G>T | CA497955409 | HES7 | c.399C>A (p.Pro133=) c.384C>A (p.Pro128=) c.375C>A (p.Pro125=) c.504C>A (p.Pro168=) c.495C>A (p.Pro165=) c.486C>A (p.Pro162=) c.357C>A (p.Pro119=) n.69+2051G>T | gnomAD v4 |
17 | g.8121868del | CA2635937898 | HES7 | c.399del (p.Lys134AsnfsTer8) c.384del (p.Lys129AsnfsTer8) c.375del (p.Lys126AsnfsTer8) c.504del (p.Lys169AsnfsTer8) c.495del (p.Lys166AsnfsTer8) c.486del (p.Lys163AsnfsTer8) c.357del (p.Lys120AsnfsTer8) n.69+2054del | gnomAD v4 |
17 | g.8121866G>A | CA397988306 | HES7 | c.398C>T (p.Pro133Leu) c.383C>T (p.Pro128Leu) c.374C>T (p.Pro125Leu) c.503C>T (p.Pro168Leu) c.494C>T (p.Pro165Leu) c.485C>T (p.Pro162Leu) c.356C>T (p.Pro119Leu) n.69+2052G>A | |
17 | g.8121866G>C | CA397988308 | HES7 | c.398C>G (p.Pro133Arg) c.383C>G (p.Pro128Arg) c.374C>G (p.Pro125Arg) c.503C>G (p.Pro168Arg) c.494C>G (p.Pro165Arg) c.485C>G (p.Pro162Arg) c.356C>G (p.Pro119Arg) n.69+2052G>C | |
17 | g.8121866G= | CA2246160563 | HES7 | c.398C= (p.Pro133=) c.383C= (p.Pro128=) c.374C= (p.Pro125=) c.503C= (p.Pro168=) c.494C= (p.Pro165=) c.485C= (p.Pro162=) c.356C= (p.Pro119=) n.69+2052G= | |
17 | g.8121866G>T | CA8368645 | HES7 | c.398C>A (p.Pro133His) c.383C>A (p.Pro128His) c.374C>A (p.Pro125His) c.503C>A (p.Pro168His) c.494C>A (p.Pro165His) c.485C>A (p.Pro162His) c.356C>A (p.Pro119His) n.69+2052G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121867G>A | CA397988325 | HES7 | c.397C>T (p.Pro133Ser) c.382C>T (p.Pro128Ser) c.373C>T (p.Pro125Ser) c.502C>T (p.Pro168Ser) c.493C>T (p.Pro165Ser) c.484C>T (p.Pro162Ser) c.355C>T (p.Pro119Ser) n.69+2053G>A | gnomAD v4 |
17 | g.8121867G>C | CA397988322 | HES7 | c.397C>G (p.Pro133Ala) c.382C>G (p.Pro128Ala) c.373C>G (p.Pro125Ala) c.502C>G (p.Pro168Ala) c.493C>G (p.Pro165Ala) c.484C>G (p.Pro162Ala) c.355C>G (p.Pro119Ala) n.69+2053G>C | |
17 | g.8121867G>T | CA397988312 | HES7 | c.397C>A (p.Pro133Thr) c.382C>A (p.Pro128Thr) c.373C>A (p.Pro125Thr) c.502C>A (p.Pro168Thr) c.493C>A (p.Pro165Thr) c.484C>A (p.Pro162Thr) c.355C>A (p.Pro119Thr) n.69+2053G>T | gnomAD v4 |
17 | g.8121868G>A | CA497955413 | HES7 | c.396C>T (p.Arg132=) c.381C>T (p.Arg127=) c.372C>T (p.Arg124=) c.501C>T (p.Arg167=) c.492C>T (p.Arg164=) c.483C>T (p.Arg161=) c.354C>T (p.Arg118=) n.69+2054G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121868G>C | CA497955414 | HES7 | c.396C>G (p.Arg132=) c.381C>G (p.Arg127=) c.372C>G (p.Arg124=) c.501C>G (p.Arg167=) c.492C>G (p.Arg164=) c.483C>G (p.Arg161=) c.354C>G (p.Arg118=) n.69+2054G>C | |
17 | g.8121868G= | CA2246160569 | HES7 | c.396C= (p.Arg132=) c.381C= (p.Arg127=) c.372C= (p.Arg124=) c.501C= (p.Arg167=) c.492C= (p.Arg164=) c.483C= (p.Arg161=) c.354C= (p.Arg118=) n.69+2054G= | |
17 | g.8121868G>T | CA497955415 | HES7 | c.396C>A (p.Arg132=) c.381C>A (p.Arg127=) c.372C>A (p.Arg124=) c.501C>A (p.Arg167=) c.492C>A (p.Arg164=) c.483C>A (p.Arg161=) c.354C>A (p.Arg118=) n.69+2054G>T | gnomAD v4 |
17 | g.8121869C>A | CA8368646 | HES7 | c.395G>T (p.Arg132Leu) c.380G>T (p.Arg127Leu) c.371G>T (p.Arg124Leu) c.500G>T (p.Arg167Leu) c.491G>T (p.Arg164Leu) c.482G>T (p.Arg161Leu) c.353G>T (p.Arg118Leu) n.69+2055C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121869C= | CA2246160570 | HES7 | c.395G= (p.Arg132=) c.380G= (p.Arg127=) c.371G= (p.Arg124=) c.500G= (p.Arg167=) c.491G= (p.Arg164=) c.482G= (p.Arg161=) c.353G= (p.Arg118=) n.69+2055C= | |
17 | g.8121869C>G | CA397988329 | HES7 | c.395G>C (p.Arg132Pro) c.380G>C (p.Arg127Pro) c.371G>C (p.Arg124Pro) c.500G>C (p.Arg167Pro) c.491G>C (p.Arg164Pro) c.482G>C (p.Arg161Pro) c.353G>C (p.Arg118Pro) n.69+2055C>G | gnomAD v4 |
17 | g.8121869C>T | CA397988332 | HES7 | c.395G>A (p.Arg132His) c.380G>A (p.Arg127His) c.371G>A (p.Arg124His) c.500G>A (p.Arg167His) c.491G>A (p.Arg164His) c.482G>A (p.Arg161His) c.353G>A (p.Arg118His) n.69+2055C>T | gnomAD v4 |
17 | g.8121870G>A | CA8368647 | HES7 | c.394C>T (p.Arg132Cys) c.379C>T (p.Arg127Cys) c.370C>T (p.Arg124Cys) c.499C>T (p.Arg167Cys) c.490C>T (p.Arg164Cys) c.481C>T (p.Arg161Cys) c.352C>T (p.Arg118Cys) n.69+2056G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121870G>C | CA397988338 | HES7 | c.394C>G (p.Arg132Gly) c.379C>G (p.Arg127Gly) c.370C>G (p.Arg124Gly) c.499C>G (p.Arg167Gly) c.490C>G (p.Arg164Gly) c.481C>G (p.Arg161Gly) c.352C>G (p.Arg118Gly) n.69+2056G>C | |
17 | g.8121870G= | CA2246160574 | HES7 | c.394C= (p.Arg132=) c.379C= (p.Arg127=) c.370C= (p.Arg124=) c.499C= (p.Arg167=) c.490C= (p.Arg164=) c.481C= (p.Arg161=) c.352C= (p.Arg118=) n.69+2056G= | |
17 | g.8121870G>T | CA8368648 | HES7 | c.394C>A (p.Arg132Ser) c.379C>A (p.Arg127Ser) c.370C>A (p.Arg124Ser) c.499C>A (p.Arg167Ser) c.490C>A (p.Arg164Ser) c.481C>A (p.Arg161Ser) c.352C>A (p.Arg118Ser) n.69+2056G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121871C>A | CA497955421 | HES7 | c.393G>T (p.Leu131=) c.378G>T (p.Leu126=) c.369G>T (p.Leu123=) c.498G>T (p.Leu166=) c.489G>T (p.Leu163=) c.480G>T (p.Leu160=) c.351G>T (p.Leu117=) n.69+2057C>A | gnomAD v4 |
17 | g.8121871C>G | CA497955422 | HES7 | c.393G>C (p.Leu131=) c.378G>C (p.Leu126=) c.369G>C (p.Leu123=) c.498G>C (p.Leu166=) c.489G>C (p.Leu163=) c.480G>C (p.Leu160=) c.351G>C (p.Leu117=) n.69+2057C>G | |
17 | g.8121871C>T | CA497955423 | HES7 | c.393G>A (p.Leu131=) c.378G>A (p.Leu126=) c.369G>A (p.Leu123=) c.498G>A (p.Leu166=) c.489G>A (p.Leu163=) c.480G>A (p.Leu160=) c.351G>A (p.Leu117=) n.69+2057C>T | gnomAD v4 |
17 | g.8121872A>C | CA397988344 | HES7 | c.392T>G (p.Leu131Arg) c.377T>G (p.Leu126Arg) c.368T>G (p.Leu123Arg) c.497T>G (p.Leu166Arg) c.488T>G (p.Leu163Arg) c.479T>G (p.Leu160Arg) c.350T>G (p.Leu117Arg) n.69+2058A>C | |
17 | g.8121872A>G | CA397988347 | HES7 | c.392T>C (p.Leu131Pro) c.377T>C (p.Leu126Pro) c.368T>C (p.Leu123Pro) c.497T>C (p.Leu166Pro) c.488T>C (p.Leu163Pro) c.479T>C (p.Leu160Pro) c.350T>C (p.Leu117Pro) n.69+2058A>G | gnomAD v4 |
17 | g.8121872A>T | CA397988349 | HES7 | c.392T>A (p.Leu131Gln) c.377T>A (p.Leu126Gln) c.368T>A (p.Leu123Gln) c.497T>A (p.Leu166Gln) c.488T>A (p.Leu163Gln) c.479T>A (p.Leu160Gln) c.350T>A (p.Leu117Gln) n.69+2058A>T | |
17 | g.8121873G>A | CA497955427 | HES7 | c.391C>T (p.Leu131=) c.376C>T (p.Leu126=) c.367C>T (p.Leu123=) c.496C>T (p.Leu166=) c.487C>T (p.Leu163=) c.478C>T (p.Leu160=) c.349C>T (p.Leu117=) n.69+2059G>A | gnomAD v4 |
17 | g.8121873G>C | CA397988352 | HES7 | c.391C>G (p.Leu131Val) c.376C>G (p.Leu126Val) c.367C>G (p.Leu123Val) c.496C>G (p.Leu166Val) c.487C>G (p.Leu163Val) c.478C>G (p.Leu160Val) c.349C>G (p.Leu117Val) n.69+2059G>C | |
17 | g.8121873G>T | CA397988355 | HES7 | c.391C>A (p.Leu131Met) c.376C>A (p.Leu126Met) c.367C>A (p.Leu123Met) c.496C>A (p.Leu166Met) c.487C>A (p.Leu163Met) c.478C>A (p.Leu160Met) c.349C>A (p.Leu117Met) n.69+2059G>T | |
17 | g.8121874A= | CA2246160577 | HES7 | c.390T= (p.Tyr130=) c.375T= (p.Tyr125=) c.366T= (p.Tyr122=) c.495T= (p.Tyr165=) c.486T= (p.Tyr162=) c.477T= (p.Tyr159=) c.348T= (p.Tyr116=) n.69+2060A= | |
17 | g.8121874A>C | CA397988359 | HES7 | c.390T>G (p.Tyr130Ter) c.375T>G (p.Tyr125Ter) c.366T>G (p.Tyr122Ter) c.495T>G (p.Tyr165Ter) c.486T>G (p.Tyr162Ter) c.477T>G (p.Tyr159Ter) c.348T>G (p.Tyr116Ter) n.69+2060A>C | |
17 | g.8121874A>G | CA497955431 | HES7 | c.390T>C (p.Tyr130=) c.375T>C (p.Tyr125=) c.366T>C (p.Tyr122=) c.495T>C (p.Tyr165=) c.486T>C (p.Tyr162=) c.477T>C (p.Tyr159=) c.348T>C (p.Tyr116=) n.69+2060A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121874A>T | CA397988362 | HES7 | c.390T>A (p.Tyr130Ter) c.375T>A (p.Tyr125Ter) c.366T>A (p.Tyr122Ter) c.495T>A (p.Tyr165Ter) c.486T>A (p.Tyr162Ter) c.477T>A (p.Tyr159Ter) c.348T>A (p.Tyr116Ter) n.69+2060A>T | |
17 | g.8121875T>A | CA397988366 | HES7 | c.389A>T (p.Tyr130Phe) c.374A>T (p.Tyr125Phe) c.365A>T (p.Tyr122Phe) c.494A>T (p.Tyr165Phe) c.485A>T (p.Tyr162Phe) c.476A>T (p.Tyr159Phe) c.347A>T (p.Tyr116Phe) n.69+2061T>A | |
17 | g.8121875T>C | CA8368649 | HES7 | c.389A>G (p.Tyr130Cys) c.374A>G (p.Tyr125Cys) c.365A>G (p.Tyr122Cys) c.494A>G (p.Tyr165Cys) c.485A>G (p.Tyr162Cys) c.476A>G (p.Tyr159Cys) c.347A>G (p.Tyr116Cys) n.69+2061T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121875T>G | CA397988364 | HES7 | c.389A>C (p.Tyr130Ser) c.374A>C (p.Tyr125Ser) c.365A>C (p.Tyr122Ser) c.494A>C (p.Tyr165Ser) c.485A>C (p.Tyr162Ser) c.476A>C (p.Tyr159Ser) c.347A>C (p.Tyr116Ser) n.69+2061T>G | ClinVar gnomAD v4 |
17 | g.8121875T= | CA2246160579 | HES7 | c.389A= (p.Tyr130=) c.374A= (p.Tyr125=) c.365A= (p.Tyr122=) c.494A= (p.Tyr165=) c.485A= (p.Tyr162=) c.476A= (p.Tyr159=) c.347A= (p.Tyr116=) n.69+2061T= | |
17 | g.8121876A>C | CA397988376 | HES7 | c.388T>G (p.Tyr130Asp) c.373T>G (p.Tyr125Asp) c.364T>G (p.Tyr122Asp) c.493T>G (p.Tyr165Asp) c.484T>G (p.Tyr162Asp) c.475T>G (p.Tyr159Asp) c.346T>G (p.Tyr116Asp) n.69+2062A>C | |
17 | g.8121876A>G | CA397988371 | HES7 | c.388T>C (p.Tyr130His) c.373T>C (p.Tyr125His) c.364T>C (p.Tyr122His) c.493T>C (p.Tyr165His) c.484T>C (p.Tyr162His) c.475T>C (p.Tyr159His) c.346T>C (p.Tyr116His) n.69+2062A>G | gnomAD v4 |
17 | g.8121876A>T | CA397988374 | HES7 | c.388T>A (p.Tyr130Asn) c.373T>A (p.Tyr125Asn) c.364T>A (p.Tyr122Asn) c.493T>A (p.Tyr165Asn) c.484T>A (p.Tyr162Asn) c.475T>A (p.Tyr159Asn) c.346T>A (p.Tyr116Asn) n.69+2062A>T | |
17 | g.8121877G>A | CA497955439 | HES7 | c.387C>T (p.Gly129=) c.372C>T (p.Gly124=) c.363C>T (p.Gly121=) c.492C>T (p.Gly164=) c.483C>T (p.Gly161=) c.474C>T (p.Gly158=) c.345C>T (p.Gly115=) n.69+2063G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121877G>C | CA497955438 | HES7 | c.387C>G (p.Gly129=) c.372C>G (p.Gly124=) c.363C>G (p.Gly121=) c.492C>G (p.Gly164=) c.483C>G (p.Gly161=) c.474C>G (p.Gly158=) c.345C>G (p.Gly115=) n.69+2063G>C | |
17 | g.8121877G= | CA2246160586 | HES7 | c.387C= (p.Gly129=) c.372C= (p.Gly124=) c.363C= (p.Gly121=) c.492C= (p.Gly164=) c.483C= (p.Gly161=) c.474C= (p.Gly158=) c.345C= (p.Gly115=) n.69+2063G= | |
17 | g.8121877G>T | CA497955437 | HES7 | c.387C>A (p.Gly129=) c.372C>A (p.Gly124=) c.363C>A (p.Gly121=) c.492C>A (p.Gly164=) c.483C>A (p.Gly161=) c.474C>A (p.Gly158=) c.345C>A (p.Gly115=) n.69+2063G>T | gnomAD v4 |
17 | g.8121878C>A | CA397988379 | HES7 | c.386G>T (p.Gly129Val) c.371G>T (p.Gly124Val) c.362G>T (p.Gly121Val) c.491G>T (p.Gly164Val) c.482G>T (p.Gly161Val) c.473G>T (p.Gly158Val) c.344G>T (p.Gly115Val) n.69+2064C>A | gnomAD v4 |
17 | g.8121878C= | CA2246160588 | HES7 | c.386G= (p.Gly129=) c.371G= (p.Gly124=) c.362G= (p.Gly121=) c.491G= (p.Gly164=) c.482G= (p.Gly161=) c.473G= (p.Gly158=) c.344G= (p.Gly115=) n.69+2064C= | |
17 | g.8121878C>G | CA397988381 | HES7 | c.386G>C (p.Gly129Ala) c.371G>C (p.Gly124Ala) c.362G>C (p.Gly121Ala) c.491G>C (p.Gly164Ala) c.482G>C (p.Gly161Ala) c.473G>C (p.Gly158Ala) c.344G>C (p.Gly115Ala) n.69+2064C>G | |
17 | g.8121878C>T | CA397988383 | HES7 | c.386G>A (p.Gly129Asp) c.371G>A (p.Gly124Asp) c.362G>A (p.Gly121Asp) c.491G>A (p.Gly164Asp) c.482G>A (p.Gly161Asp) c.473G>A (p.Gly158Asp) c.344G>A (p.Gly115Asp) n.69+2064C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121879C>A | CA397988388 | HES7 | c.385G>T (p.Gly129Cys) c.370G>T (p.Gly124Cys) c.361G>T (p.Gly121Cys) c.490G>T (p.Gly164Cys) c.481G>T (p.Gly161Cys) c.472G>T (p.Gly158Cys) c.343G>T (p.Gly115Cys) n.69+2065C>A | gnomAD v4 |
17 | g.8121879C= | CA2246160592 | HES7 | c.385G= (p.Gly129=) c.370G= (p.Gly124=) c.361G= (p.Gly121=) c.490G= (p.Gly164=) c.481G= (p.Gly161=) c.472G= (p.Gly158=) c.343G= (p.Gly115=) n.69+2065C= | |
17 | g.8121879C>G | CA8368650 | HES7 | c.385G>C (p.Gly129Arg) c.370G>C (p.Gly124Arg) c.361G>C (p.Gly121Arg) c.490G>C (p.Gly164Arg) c.481G>C (p.Gly161Arg) c.472G>C (p.Gly158Arg) c.343G>C (p.Gly115Arg) n.69+2065C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121879C>T | CA397988386 | HES7 | c.385G>A (p.Gly129Ser) c.370G>A (p.Gly124Ser) c.361G>A (p.Gly121Ser) c.490G>A (p.Gly164Ser) c.481G>A (p.Gly161Ser) c.472G>A (p.Gly158Ser) c.343G>A (p.Gly115Ser) n.69+2065C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121880G>A | CA8368652 | HES7 | c.384C>T (p.His128=) c.369C>T (p.His123=) c.360C>T (p.His120=) c.489C>T (p.His163=) c.480C>T (p.His160=) c.471C>T (p.His157=) c.342C>T (p.His114=) n.69+2066G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121880G>C | CA397988391 | HES7 | c.384C>G (p.His128Gln) c.369C>G (p.His123Gln) c.360C>G (p.His120Gln) c.489C>G (p.His163Gln) c.480C>G (p.His160Gln) c.471C>G (p.His157Gln) c.342C>G (p.His114Gln) n.69+2066G>C | |
17 | g.8121880G= | CA2246160596 | HES7 | c.384C= (p.His128=) c.369C= (p.His123=) c.360C= (p.His120=) c.489C= (p.His163=) c.480C= (p.His160=) c.471C= (p.His157=) c.342C= (p.His114=) n.69+2066G= | |
17 | g.8121880G>T | CA8368651 | HES7 | c.384C>A (p.His128Gln) c.369C>A (p.His123Gln) c.360C>A (p.His120Gln) c.489C>A (p.His163Gln) c.480C>A (p.His160Gln) c.471C>A (p.His157Gln) c.342C>A (p.His114Gln) n.69+2066G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121881T>A | CA397988394 | HES7 | c.383A>T (p.His128Leu) c.368A>T (p.His123Leu) c.359A>T (p.His120Leu) c.488A>T (p.His163Leu) c.479A>T (p.His160Leu) c.470A>T (p.His157Leu) c.341A>T (p.His114Leu) n.69+2067T>A | |
17 | g.8121881T>C | CA8368653 | HES7 | c.383A>G (p.His128Arg) c.368A>G (p.His123Arg) c.359A>G (p.His120Arg) c.488A>G (p.His163Arg) c.479A>G (p.His160Arg) c.470A>G (p.His157Arg) c.341A>G (p.His114Arg) n.69+2067T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121881T>G | CA397988396 | HES7 | c.383A>C (p.His128Pro) c.368A>C (p.His123Pro) c.359A>C (p.His120Pro) c.488A>C (p.His163Pro) c.479A>C (p.His160Pro) c.470A>C (p.His157Pro) c.341A>C (p.His114Pro) n.69+2067T>G | |
17 | g.8121881T= | CA2246160603 | HES7 | c.383A= (p.His128=) c.368A= (p.His123=) c.359A= (p.His120=) c.488A= (p.His163=) c.479A= (p.His160=) c.470A= (p.His157=) c.341A= (p.His114=) n.69+2067T= | |
17 | g.8121882G>A | CA397988399 | HES7 | c.382C>T (p.His128Tyr) c.367C>T (p.His123Tyr) c.358C>T (p.His120Tyr) c.487C>T (p.His163Tyr) c.478C>T (p.His160Tyr) c.469C>T (p.His157Tyr) c.340C>T (p.His114Tyr) n.69+2068G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121882G>C | CA397988402 | HES7 | c.382C>G (p.His128Asp) c.367C>G (p.His123Asp) c.358C>G (p.His120Asp) c.487C>G (p.His163Asp) c.478C>G (p.His160Asp) c.469C>G (p.His157Asp) c.340C>G (p.His114Asp) n.69+2068G>C | |
17 | g.8121882G= | CA2246160610 | HES7 | c.382C= (p.His128=) c.367C= (p.His123=) c.358C= (p.His120=) c.487C= (p.His163=) c.478C= (p.His160=) c.469C= (p.His157=) c.340C= (p.His114=) n.69+2068G= | |
17 | g.8121882G>T | CA397988400 | HES7 | c.382C>A (p.His128Asn) c.367C>A (p.His123Asn) c.358C>A (p.His120Asn) c.487C>A (p.His163Asn) c.478C>A (p.His160Asn) c.469C>A (p.His157Asn) c.340C>A (p.His114Asn) n.69+2068G>T | gnomAD v4 |
17 | g.8121883C>A | CA497955450 | HES7 | c.381G>T (p.Leu127=) c.366G>T (p.Leu122=) c.357G>T (p.Leu119=) c.486G>T (p.Leu162=) c.477G>T (p.Leu159=) c.468G>T (p.Leu156=) c.339G>T (p.Leu113=) n.69+2069C>A | gnomAD v4 |
17 | g.8121883C>G | CA497955451 | HES7 | c.381G>C (p.Leu127=) c.366G>C (p.Leu122=) c.357G>C (p.Leu119=) c.486G>C (p.Leu162=) c.477G>C (p.Leu159=) c.468G>C (p.Leu156=) c.339G>C (p.Leu113=) n.69+2069C>G | |
17 | g.8121883C>T | CA497955452 | HES7 | c.381G>A (p.Leu127=) c.366G>A (p.Leu122=) c.357G>A (p.Leu119=) c.486G>A (p.Leu162=) c.477G>A (p.Leu159=) c.468G>A (p.Leu156=) c.339G>A (p.Leu113=) n.69+2069C>T | gnomAD v4 |
17 | g.8121884A= | CA2246160616 | HES7 | c.380T= (p.Leu127=) c.365T= (p.Leu122=) c.356T= (p.Leu119=) c.485T= (p.Leu162=) c.476T= (p.Leu159=) c.467T= (p.Leu156=) c.338T= (p.Leu113=) n.69+2070A= | |
17 | g.8121884A>C | CA287537298 | HES7 | c.380T>G (p.Leu127Arg) c.365T>G (p.Leu122Arg) c.356T>G (p.Leu119Arg) c.485T>G (p.Leu162Arg) c.476T>G (p.Leu159Arg) c.467T>G (p.Leu156Arg) c.338T>G (p.Leu113Arg) n.69+2070A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121884A>G | CA397988405 | HES7 | c.380T>C (p.Leu127Pro) c.365T>C (p.Leu122Pro) c.356T>C (p.Leu119Pro) c.485T>C (p.Leu162Pro) c.476T>C (p.Leu159Pro) c.467T>C (p.Leu156Pro) c.338T>C (p.Leu113Pro) n.69+2070A>G | |
17 | g.8121884A>T | CA397988407 | HES7 | c.380T>A (p.Leu127Gln) c.365T>A (p.Leu122Gln) c.356T>A (p.Leu119Gln) c.485T>A (p.Leu162Gln) c.476T>A (p.Leu159Gln) c.467T>A (p.Leu156Gln) c.338T>A (p.Leu113Gln) n.69+2070A>T | |
17 | g.8121885G>A | CA497955453 | HES7 | c.379C>T (p.Leu127=) c.364C>T (p.Leu122=) c.355C>T (p.Leu119=) c.484C>T (p.Leu162=) c.475C>T (p.Leu159=) c.466C>T (p.Leu156=) c.337C>T (p.Leu113=) n.69+2071G>A | |
17 | g.8121885G>C | CA397988409 | HES7 | c.379C>G (p.Leu127Val) c.364C>G (p.Leu122Val) c.355C>G (p.Leu119Val) c.484C>G (p.Leu162Val) c.475C>G (p.Leu159Val) c.466C>G (p.Leu156Val) c.337C>G (p.Leu113Val) n.69+2071G>C | |
17 | g.8121885G>T | CA397988411 | HES7 | c.379C>A (p.Leu127Met) c.364C>A (p.Leu122Met) c.355C>A (p.Leu119Met) c.484C>A (p.Leu162Met) c.475C>A (p.Leu159Met) c.466C>A (p.Leu156Met) c.337C>A (p.Leu113Met) n.69+2071G>T | |
17 | g.8121890_8121931del | CA2635938137 | HES7 | c.338_379del (p.His113_Ala126del) c.323_364del (p.His108_Ala121del) c.314_355del (p.His105_Ala118del) c.443_484del (p.His148_Ala161del) c.434_475del (p.His145_Ala158del) c.425_466del (p.His142_Ala155del) c.296_337del (p.His99_Ala112del) n.69+2076_69+2117del | gnomAD v4 |
17 | g.8121886C>A | CA497955455 | HES7 | c.378G>T (p.Ala126=) c.363G>T (p.Ala121=) c.354G>T (p.Ala118=) c.483G>T (p.Ala161=) c.474G>T (p.Ala158=) c.465G>T (p.Ala155=) c.336G>T (p.Ala112=) n.69+2072C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121886C= | CA2246160623 | HES7 | c.378G= (p.Ala126=) c.363G= (p.Ala121=) c.354G= (p.Ala118=) c.483G= (p.Ala161=) c.474G= (p.Ala158=) c.465G= (p.Ala155=) c.336G= (p.Ala112=) n.69+2072C= | |
17 | g.8121886C>G | CA497955456 | HES7 | c.378G>C (p.Ala126=) c.363G>C (p.Ala121=) c.354G>C (p.Ala118=) c.483G>C (p.Ala161=) c.474G>C (p.Ala158=) c.465G>C (p.Ala155=) c.336G>C (p.Ala112=) n.69+2072C>G | |
17 | g.8121886C>T | CA497955457 | HES7 | c.378G>A (p.Ala126=) c.363G>A (p.Ala121=) c.354G>A (p.Ala118=) c.483G>A (p.Ala161=) c.474G>A (p.Ala158=) c.465G>A (p.Ala155=) c.336G>A (p.Ala112=) n.69+2072C>T | gnomAD v4 |
17 | g.8121887G>A | CA397988413 | HES7 | c.377C>T (p.Ala126Val) c.362C>T (p.Ala121Val) c.353C>T (p.Ala118Val) c.482C>T (p.Ala161Val) c.473C>T (p.Ala158Val) c.464C>T (p.Ala155Val) c.335C>T (p.Ala112Val) n.69+2073G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121887G>C | CA397988415 | HES7 | c.377C>G (p.Ala126Gly) c.362C>G (p.Ala121Gly) c.353C>G (p.Ala118Gly) c.482C>G (p.Ala161Gly) c.473C>G (p.Ala158Gly) c.464C>G (p.Ala155Gly) c.335C>G (p.Ala112Gly) n.69+2073G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121887G= | CA2246160626 | HES7 | c.377C= (p.Ala126=) c.362C= (p.Ala121=) c.353C= (p.Ala118=) c.482C= (p.Ala161=) c.473C= (p.Ala158=) c.464C= (p.Ala155=) c.335C= (p.Ala112=) n.69+2073G= | |
17 | g.8121887G>T | CA397988417 | HES7 | c.377C>A (p.Ala126Glu) c.362C>A (p.Ala121Glu) c.353C>A (p.Ala118Glu) c.482C>A (p.Ala161Glu) c.473C>A (p.Ala158Glu) c.464C>A (p.Ala155Glu) c.335C>A (p.Ala112Glu) n.69+2073G>T | gnomAD v4 |
17 | g.8121888C>A | CA8368654 | HES7 | c.376G>T (p.Ala126Ser) c.361G>T (p.Ala121Ser) c.352G>T (p.Ala118Ser) c.481G>T (p.Ala161Ser) c.472G>T (p.Ala158Ser) c.463G>T (p.Ala155Ser) c.334G>T (p.Ala112Ser) n.69+2074C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121888C= | CA2246160631 | HES7 | c.376G= (p.Ala126=) c.361G= (p.Ala121=) c.352G= (p.Ala118=) c.481G= (p.Ala161=) c.472G= (p.Ala158=) c.463G= (p.Ala155=) c.334G= (p.Ala112=) n.69+2074C= | |
17 | g.8121888C>G | CA397988420 | HES7 | c.376G>C (p.Ala126Pro) c.361G>C (p.Ala121Pro) c.352G>C (p.Ala118Pro) c.481G>C (p.Ala161Pro) c.472G>C (p.Ala158Pro) c.463G>C (p.Ala155Pro) c.334G>C (p.Ala112Pro) n.69+2074C>G | gnomAD v4 |
17 | g.8121888C>T | CA397988422 | HES7 | c.376G>A (p.Ala126Thr) c.361G>A (p.Ala121Thr) c.352G>A (p.Ala118Thr) c.481G>A (p.Ala161Thr) c.472G>A (p.Ala158Thr) c.463G>A (p.Ala155Thr) c.334G>A (p.Ala112Thr) n.69+2074C>T | gnomAD v4 |
17 | g.8121889G>A | CA497955461 | HES7 | c.375C>T (p.Ser125=) c.360C>T (p.Ser120=) c.351C>T (p.Ser117=) c.480C>T (p.Ser160=) c.471C>T (p.Ser157=) c.462C>T (p.Ser154=) c.333C>T (p.Ser111=) n.69+2075G>A | dbSNP gnomAD v4 |
17 | g.8121889G>C | CA497955462 | HES7 | c.375C>G (p.Ser125=) c.360C>G (p.Ser120=) c.351C>G (p.Ser117=) c.480C>G (p.Ser160=) c.471C>G (p.Ser157=) c.462C>G (p.Ser154=) c.333C>G (p.Ser111=) n.69+2075G>C | |
17 | g.8121889G= | CA2246160635 | HES7 | c.375C= (p.Ser125=) c.360C= (p.Ser120=) c.351C= (p.Ser117=) c.480C= (p.Ser160=) c.471C= (p.Ser157=) c.462C= (p.Ser154=) c.333C= (p.Ser111=) n.69+2075G= | |
17 | g.8121889G>T | CA497955463 | HES7 | c.375C>A (p.Ser125=) c.360C>A (p.Ser120=) c.351C>A (p.Ser117=) c.480C>A (p.Ser160=) c.471C>A (p.Ser157=) c.462C>A (p.Ser154=) c.333C>A (p.Ser111=) n.69+2075G>T | gnomAD v4 |
17 | g.8121890_8121892del | CA2576161675 | HES7 | c.373_375del (p.Ser125del) c.358_360del (p.Ser120del) c.349_351del (p.Ser117del) c.478_480del (p.Ser160del) c.469_471del (p.Ser157del) c.460_462del (p.Ser154del) c.331_333del (p.Ser111del) n.69+2076_69+2078del | gnomAD v4 |
17 | g.8121890G>A | CA397988427 | HES7 | c.374C>T (p.Ser125Phe) c.359C>T (p.Ser120Phe) c.350C>T (p.Ser117Phe) c.479C>T (p.Ser160Phe) c.470C>T (p.Ser157Phe) c.461C>T (p.Ser154Phe) c.332C>T (p.Ser111Phe) n.69+2076G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121890G>C | CA397988426 | HES7 | c.374C>G (p.Ser125Cys) c.359C>G (p.Ser120Cys) c.350C>G (p.Ser117Cys) c.479C>G (p.Ser160Cys) c.470C>G (p.Ser157Cys) c.461C>G (p.Ser154Cys) c.332C>G (p.Ser111Cys) n.69+2076G>C | |
17 | g.8121890G= | CA2246160640 | HES7 | c.374C= (p.Ser125=) c.359C= (p.Ser120=) c.350C= (p.Ser117=) c.479C= (p.Ser160=) c.470C= (p.Ser157=) c.461C= (p.Ser154=) c.332C= (p.Ser111=) n.69+2076G= | |
17 | g.8121890G>T | CA397988424 | HES7 | c.374C>A (p.Ser125Tyr) c.359C>A (p.Ser120Tyr) c.350C>A (p.Ser117Tyr) c.479C>A (p.Ser160Tyr) c.470C>A (p.Ser157Tyr) c.461C>A (p.Ser154Tyr) c.332C>A (p.Ser111Tyr) n.69+2076G>T | |
17 | g.8121891A>C | CA397988432 | HES7 | c.373T>G (p.Ser125Ala) c.358T>G (p.Ser120Ala) c.349T>G (p.Ser117Ala) c.478T>G (p.Ser160Ala) c.469T>G (p.Ser157Ala) c.460T>G (p.Ser154Ala) c.331T>G (p.Ser111Ala) n.69+2077A>C | |
17 | g.8121891A>G | CA397988429 | HES7 | c.373T>C (p.Ser125Pro) c.358T>C (p.Ser120Pro) c.349T>C (p.Ser117Pro) c.478T>C (p.Ser160Pro) c.469T>C (p.Ser157Pro) c.460T>C (p.Ser154Pro) c.331T>C (p.Ser111Pro) n.69+2077A>G | |
17 | g.8121891A>T | CA397988431 | HES7 | c.373T>A (p.Ser125Thr) c.358T>A (p.Ser120Thr) c.349T>A (p.Ser117Thr) c.478T>A (p.Ser160Thr) c.469T>A (p.Ser157Thr) c.460T>A (p.Ser154Thr) c.331T>A (p.Ser111Thr) n.69+2077A>T | |
17 | g.8121892del | CA2531398372 | HES7 | c.372del (p.Ser125ProfsTer17) c.357del (p.Ser120ProfsTer17) c.348del (p.Ser117ProfsTer17) c.477del (p.Ser160ProfsTer17) c.468del (p.Ser157ProfsTer17) c.459del (p.Ser154ProfsTer17) c.330del (p.Ser111ProfsTer17) n.69+2078del | |
17 | g.8121892G>A | CA497955467 | HES7 | c.372C>T (p.Phe124=) c.357C>T (p.Phe119=) c.348C>T (p.Phe116=) c.477C>T (p.Phe159=) c.468C>T (p.Phe156=) c.459C>T (p.Phe153=) c.330C>T (p.Phe110=) n.69+2078G>A | gnomAD v4 |
17 | g.8121892G>C | CA397988434 | HES7 | c.372C>G (p.Phe124Leu) c.357C>G (p.Phe119Leu) c.348C>G (p.Phe116Leu) c.477C>G (p.Phe159Leu) c.468C>G (p.Phe156Leu) c.459C>G (p.Phe153Leu) c.330C>G (p.Phe110Leu) n.69+2078G>C | |
17 | g.8121892G= | CA2246160642 | HES7 | c.372C= (p.Phe124=) c.357C= (p.Phe119=) c.348C= (p.Phe116=) c.477C= (p.Phe159=) c.468C= (p.Phe156=) c.459C= (p.Phe153=) c.330C= (p.Phe110=) n.69+2078G= | |
17 | g.8121892G>T | CA397988435 | HES7 | c.372C>A (p.Phe124Leu) c.357C>A (p.Phe119Leu) c.348C>A (p.Phe116Leu) c.477C>A (p.Phe159Leu) c.468C>A (p.Phe156Leu) c.459C>A (p.Phe153Leu) c.330C>A (p.Phe110Leu) n.69+2078G>T | gnomAD v4 |
17 | g.8121893A>C | CA397988437 | HES7 | c.371T>G (p.Phe124Cys) c.356T>G (p.Phe119Cys) c.347T>G (p.Phe116Cys) c.476T>G (p.Phe159Cys) c.467T>G (p.Phe156Cys) c.458T>G (p.Phe153Cys) c.329T>G (p.Phe110Cys) n.69+2079A>C | |
17 | g.8121893A>G | CA397988439 | HES7 | c.371T>C (p.Phe124Ser) c.356T>C (p.Phe119Ser) c.347T>C (p.Phe116Ser) c.476T>C (p.Phe159Ser) c.467T>C (p.Phe156Ser) c.458T>C (p.Phe153Ser) c.329T>C (p.Phe110Ser) n.69+2079A>G | gnomAD v4 |
17 | g.8121893A>T | CA397988441 | HES7 | c.371T>A (p.Phe124Tyr) c.356T>A (p.Phe119Tyr) c.347T>A (p.Phe116Tyr) c.476T>A (p.Phe159Tyr) c.467T>A (p.Phe156Tyr) c.458T>A (p.Phe153Tyr) c.329T>A (p.Phe110Tyr) n.69+2079A>T | |
17 | g.8121893_8121909dup | CA624868564 | HES7 | c.355_371dup (p.Phe124LeufsTer24) c.340_356dup (p.Phe119LeufsTer24) c.331_347dup (p.Phe116LeufsTer24) c.460_476dup (p.Phe159LeufsTer24) c.451_467dup (p.Phe156LeufsTer24) c.442_458dup (p.Phe153LeufsTer24) c.313_329dup (p.Phe110LeufsTer24) n.69+2079_69+2095dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121894A>C | CA397988443 | HES7 | c.370T>G (p.Phe124Val) c.355T>G (p.Phe119Val) c.346T>G (p.Phe116Val) c.475T>G (p.Phe159Val) c.466T>G (p.Phe156Val) c.457T>G (p.Phe153Val) c.328T>G (p.Phe110Val) n.69+2080A>C | |
17 | g.8121894A>G | CA397988445 | HES7 | c.370T>C (p.Phe124Leu) c.355T>C (p.Phe119Leu) c.346T>C (p.Phe116Leu) c.475T>C (p.Phe159Leu) c.466T>C (p.Phe156Leu) c.457T>C (p.Phe153Leu) c.328T>C (p.Phe110Leu) n.69+2080A>G | |
17 | g.8121894A>T | CA397988446 | HES7 | c.370T>A (p.Phe124Ile) c.355T>A (p.Phe119Ile) c.346T>A (p.Phe116Ile) c.475T>A (p.Phe159Ile) c.466T>A (p.Phe156Ile) c.457T>A (p.Phe153Ile) c.328T>A (p.Phe110Ile) n.69+2080A>T | |
17 | g.8121895G>A | CA497955472 | HES7 | c.369C>T (p.Leu123=) c.354C>T (p.Leu118=) c.345C>T (p.Leu115=) c.474C>T (p.Leu158=) c.465C>T (p.Leu155=) c.456C>T (p.Leu152=) c.327C>T (p.Leu109=) n.69+2081G>A | gnomAD v4 |
17 | g.8121895G>C | CA497955474 | HES7 | c.369C>G (p.Leu123=) c.354C>G (p.Leu118=) c.345C>G (p.Leu115=) c.474C>G (p.Leu158=) c.465C>G (p.Leu155=) c.456C>G (p.Leu152=) c.327C>G (p.Leu109=) n.69+2081G>C | |
17 | g.8121895G>T | CA497955471 | HES7 | c.369C>A (p.Leu123=) c.354C>A (p.Leu118=) c.345C>A (p.Leu115=) c.474C>A (p.Leu158=) c.465C>A (p.Leu155=) c.456C>A (p.Leu152=) c.327C>A (p.Leu109=) n.69+2081G>T | |
17 | g.8121896A= | CA2246160644 | HES7 | c.368T= (p.Leu123=) c.353T= (p.Leu118=) c.344T= (p.Leu115=) c.473T= (p.Leu158=) c.464T= (p.Leu155=) c.455T= (p.Leu152=) c.326T= (p.Leu109=) n.69+2082A= | |
17 | g.8121896A>C | CA397988449 | HES7 | c.368T>G (p.Leu123Arg) c.353T>G (p.Leu118Arg) c.344T>G (p.Leu115Arg) c.473T>G (p.Leu158Arg) c.464T>G (p.Leu155Arg) c.455T>G (p.Leu152Arg) c.326T>G (p.Leu109Arg) n.69+2082A>C | |
17 | g.8121896A>G | CA397988450 | HES7 | c.368T>C (p.Leu123Pro) c.353T>C (p.Leu118Pro) c.344T>C (p.Leu115Pro) c.473T>C (p.Leu158Pro) c.464T>C (p.Leu155Pro) c.455T>C (p.Leu152Pro) c.326T>C (p.Leu109Pro) n.69+2082A>G | dbSNP gnomAD v4 |
17 | g.8121896A>T | CA397988452 | HES7 | c.368T>A (p.Leu123His) c.353T>A (p.Leu118His) c.344T>A (p.Leu115His) c.473T>A (p.Leu158His) c.464T>A (p.Leu155His) c.455T>A (p.Leu152His) c.326T>A (p.Leu109His) n.69+2082A>T | |
17 | g.8121896_8121899dup | CA2635938175 | HES7 | c.365_368dup (p.Phe124AlafsTer?) c.350_353dup (p.Phe119AlafsTer?) c.341_344dup (p.Phe116AlafsTer?) c.470_473dup (p.Phe159AlafsTer?) c.461_464dup (p.Phe156AlafsTer?) c.452_455dup (p.Phe153AlafsTer?) c.323_326dup (p.Phe110AlafsTer?) n.69+2082_69+2085dup | gnomAD v4 |
17 | g.8121897G>A | CA397988456 | HES7 | c.367C>T (p.Leu123Phe) c.352C>T (p.Leu118Phe) c.343C>T (p.Leu115Phe) c.472C>T (p.Leu158Phe) c.463C>T (p.Leu155Phe) c.454C>T (p.Leu152Phe) c.325C>T (p.Leu109Phe) n.69+2083G>A | |
17 | g.8121897G>C | CA397988458 | HES7 | c.367C>G (p.Leu123Val) c.352C>G (p.Leu118Val) c.343C>G (p.Leu115Val) c.472C>G (p.Leu158Val) c.463C>G (p.Leu155Val) c.454C>G (p.Leu152Val) c.325C>G (p.Leu109Val) n.69+2083G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121897G= | CA2246160645 | HES7 | c.367C= (p.Leu123=) c.352C= (p.Leu118=) c.343C= (p.Leu115=) c.472C= (p.Leu158=) c.463C= (p.Leu155=) c.454C= (p.Leu152=) c.325C= (p.Leu109=) n.69+2083G= | |
17 | g.8121897G>T | CA397988455 | HES7 | c.367C>A (p.Leu123Ile) c.352C>A (p.Leu118Ile) c.343C>A (p.Leu115Ile) c.472C>A (p.Leu158Ile) c.463C>A (p.Leu155Ile) c.454C>A (p.Leu152Ile) c.325C>A (p.Leu109Ile) n.69+2083G>T | |
17 | g.8121898C>A | CA397988460 | HES7 | c.366G>T (p.Gln122His) c.351G>T (p.Gln117His) c.342G>T (p.Gln114His) c.471G>T (p.Gln157His) c.462G>T (p.Gln154His) c.453G>T (p.Gln151His) c.324G>T (p.Gln108His) n.69+2084C>A | gnomAD v4 |
17 | g.8121898C>G | CA397988462 | HES7 | c.366G>C (p.Gln122His) c.351G>C (p.Gln117His) c.342G>C (p.Gln114His) c.471G>C (p.Gln157His) c.462G>C (p.Gln154His) c.453G>C (p.Gln151His) c.324G>C (p.Gln108His) n.69+2084C>G | gnomAD v4 |
17 | g.8121898C>T | CA497955477 | HES7 | c.366G>A (p.Gln122=) c.351G>A (p.Gln117=) c.342G>A (p.Gln114=) c.471G>A (p.Gln157=) c.462G>A (p.Gln154=) c.453G>A (p.Gln151=) c.324G>A (p.Gln108=) n.69+2084C>T | gnomAD v4 |
17 | g.8121899T>A | CA397988465 | HES7 | c.365A>T (p.Gln122Leu) c.350A>T (p.Gln117Leu) c.341A>T (p.Gln114Leu) c.470A>T (p.Gln157Leu) c.461A>T (p.Gln154Leu) c.452A>T (p.Gln151Leu) c.323A>T (p.Gln108Leu) n.69+2085T>A | |
17 | g.8121899T>C | CA397988466 | HES7 | c.365A>G (p.Gln122Arg) c.350A>G (p.Gln117Arg) c.341A>G (p.Gln114Arg) c.470A>G (p.Gln157Arg) c.461A>G (p.Gln154Arg) c.452A>G (p.Gln151Arg) c.323A>G (p.Gln108Arg) n.69+2085T>C | gnomAD v4 |
17 | g.8121899T>G | CA397988468 | HES7 | c.365A>C (p.Gln122Pro) c.350A>C (p.Gln117Pro) c.341A>C (p.Gln114Pro) c.470A>C (p.Gln157Pro) c.461A>C (p.Gln154Pro) c.452A>C (p.Gln151Pro) c.323A>C (p.Gln108Pro) n.69+2085T>G | |
17 | g.8121900G>A | CA397988473 | HES7 | c.364C>T (p.Gln122Ter) c.349C>T (p.Gln117Ter) c.340C>T (p.Gln114Ter) c.469C>T (p.Gln157Ter) c.460C>T (p.Gln154Ter) c.451C>T (p.Gln151Ter) c.322C>T (p.Gln108Ter) n.69+2086G>A | |
17 | g.8121900G>C | CA397988470 | HES7 | c.364C>G (p.Gln122Glu) c.349C>G (p.Gln117Glu) c.340C>G (p.Gln114Glu) c.469C>G (p.Gln157Glu) c.460C>G (p.Gln154Glu) c.451C>G (p.Gln151Glu) c.322C>G (p.Gln108Glu) n.69+2086G>C | |
17 | g.8121900G>T | CA397988472 | HES7 | c.364C>A (p.Gln122Lys) c.349C>A (p.Gln117Lys) c.340C>A (p.Gln114Lys) c.469C>A (p.Gln157Lys) c.460C>A (p.Gln154Lys) c.451C>A (p.Gln151Lys) c.322C>A (p.Gln108Lys) n.69+2086G>T | |
17 | g.8121901G>A | CA497955482 | HES7 | c.363C>T (p.Ala121=) c.348C>T (p.Ala116=) c.339C>T (p.Ala113=) c.468C>T (p.Ala156=) c.459C>T (p.Ala153=) c.450C>T (p.Ala150=) c.321C>T (p.Ala107=) n.69+2087G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121901G>C | CA497955481 | HES7 | c.363C>G (p.Ala121=) c.348C>G (p.Ala116=) c.339C>G (p.Ala113=) c.468C>G (p.Ala156=) c.459C>G (p.Ala153=) c.450C>G (p.Ala150=) c.321C>G (p.Ala107=) n.69+2087G>C | |
17 | g.8121901G= | CA2246160647 | HES7 | c.363C= (p.Ala121=) c.348C= (p.Ala116=) c.339C= (p.Ala113=) c.468C= (p.Ala156=) c.459C= (p.Ala153=) c.450C= (p.Ala150=) c.321C= (p.Ala107=) n.69+2087G= | |
17 | g.8121901G>T | CA497955480 | HES7 | c.363C>A (p.Ala121=) c.348C>A (p.Ala116=) c.339C>A (p.Ala113=) c.468C>A (p.Ala156=) c.459C>A (p.Ala153=) c.450C>A (p.Ala150=) c.321C>A (p.Ala107=) n.69+2087G>T | |
17 | g.8121902G>A | CA397988476 | HES7 | c.362C>T (p.Ala121Val) c.347C>T (p.Ala116Val) c.338C>T (p.Ala113Val) c.467C>T (p.Ala156Val) c.458C>T (p.Ala153Val) c.449C>T (p.Ala150Val) c.320C>T (p.Ala107Val) n.69+2088G>A | gnomAD v4 |
17 | g.8121902G>C | CA397988477 | HES7 | c.362C>G (p.Ala121Gly) c.347C>G (p.Ala116Gly) c.338C>G (p.Ala113Gly) c.467C>G (p.Ala156Gly) c.458C>G (p.Ala153Gly) c.449C>G (p.Ala150Gly) c.320C>G (p.Ala107Gly) n.69+2088G>C | |
17 | g.8121902G>T | CA397988478 | HES7 | c.362C>A (p.Ala121Asp) c.347C>A (p.Ala116Asp) c.338C>A (p.Ala113Asp) c.467C>A (p.Ala156Asp) c.458C>A (p.Ala153Asp) c.449C>A (p.Ala150Asp) c.320C>A (p.Ala107Asp) n.69+2088G>T | gnomAD v4 |
17 | g.8121903C>A | CA8368655 | HES7 | c.361G>T (p.Ala121Ser) c.346G>T (p.Ala116Ser) c.337G>T (p.Ala113Ser) c.466G>T (p.Ala156Ser) c.457G>T (p.Ala153Ser) c.448G>T (p.Ala150Ser) c.319G>T (p.Ala107Ser) n.69+2089C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121903C= | CA2246160650 | HES7 | c.361G= (p.Ala121=) c.346G= (p.Ala116=) c.337G= (p.Ala113=) c.466G= (p.Ala156=) c.457G= (p.Ala153=) c.448G= (p.Ala150=) c.319G= (p.Ala107=) n.69+2089C= | |
17 | g.8121903C>G | CA397988481 | HES7 | c.361G>C (p.Ala121Pro) c.346G>C (p.Ala116Pro) c.337G>C (p.Ala113Pro) c.466G>C (p.Ala156Pro) c.457G>C (p.Ala153Pro) c.448G>C (p.Ala150Pro) c.319G>C (p.Ala107Pro) n.69+2089C>G | |
17 | g.8121903C>T | CA397988485 | HES7 | c.361G>A (p.Ala121Thr) c.346G>A (p.Ala116Thr) c.337G>A (p.Ala113Thr) c.466G>A (p.Ala156Thr) c.457G>A (p.Ala153Thr) c.448G>A (p.Ala150Thr) c.319G>A (p.Ala107Thr) n.69+2089C>T | gnomAD v4 |
17 | g.8121904G>A | CA497955484 | HES7 | c.360C>T (p.Arg120=) c.345C>T (p.Arg115=) c.336C>T (p.Arg112=) c.465C>T (p.Arg155=) c.456C>T (p.Arg152=) c.447C>T (p.Arg149=) c.318C>T (p.Arg106=) n.69+2090G>A | gnomAD v4 |
17 | g.8121904G>C | CA497955485 | HES7 | c.360C>G (p.Arg120=) c.345C>G (p.Arg115=) c.336C>G (p.Arg112=) c.465C>G (p.Arg155=) c.456C>G (p.Arg152=) c.447C>G (p.Arg149=) c.318C>G (p.Arg106=) n.69+2090G>C | |
17 | g.8121904G>T | CA497955486 | HES7 | c.360C>A (p.Arg120=) c.345C>A (p.Arg115=) c.336C>A (p.Arg112=) c.465C>A (p.Arg155=) c.456C>A (p.Arg152=) c.447C>A (p.Arg149=) c.318C>A (p.Arg106=) n.69+2090G>T | |
17 | g.8121905C>A | CA397988490 | HES7 | c.359G>T (p.Arg120Leu) c.344G>T (p.Arg115Leu) c.335G>T (p.Arg112Leu) c.464G>T (p.Arg155Leu) c.455G>T (p.Arg152Leu) c.446G>T (p.Arg149Leu) c.317G>T (p.Arg106Leu) n.69+2091C>A | gnomAD v4 |
17 | g.8121905C= | CA2246160657 | HES7 | c.359G= (p.Arg120=) c.344G= (p.Arg115=) c.335G= (p.Arg112=) c.464G= (p.Arg155=) c.455G= (p.Arg152=) c.446G= (p.Arg149=) c.317G= (p.Arg106=) n.69+2091C= | |
17 | g.8121905C>G | CA397988492 | HES7 | c.359G>C (p.Arg120Pro) c.344G>C (p.Arg115Pro) c.335G>C (p.Arg112Pro) c.464G>C (p.Arg155Pro) c.455G>C (p.Arg152Pro) c.446G>C (p.Arg149Pro) c.317G>C (p.Arg106Pro) n.69+2091C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121905C>T | CA397988489 | HES7 | c.359G>A (p.Arg120His) c.344G>A (p.Arg115His) c.335G>A (p.Arg112His) c.464G>A (p.Arg155His) c.455G>A (p.Arg152His) c.446G>A (p.Arg149His) c.317G>A (p.Arg106His) n.69+2091C>T | gnomAD v4 |
17 | g.8121906G>A | CA397988495 | HES7 | c.358C>T (p.Arg120Cys) c.343C>T (p.Arg115Cys) c.334C>T (p.Arg112Cys) c.463C>T (p.Arg155Cys) c.454C>T (p.Arg152Cys) c.445C>T (p.Arg149Cys) c.316C>T (p.Arg106Cys) n.69+2092G>A | gnomAD v4 |
17 | g.8121906G>C | CA8368657 | HES7 | c.358C>G (p.Arg120Gly) c.343C>G (p.Arg115Gly) c.334C>G (p.Arg112Gly) c.463C>G (p.Arg155Gly) c.454C>G (p.Arg152Gly) c.445C>G (p.Arg149Gly) c.316C>G (p.Arg106Gly) n.69+2092G>C | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.8121906G= | CA2246160662 | HES7 | c.358C= (p.Arg120=) c.343C= (p.Arg115=) c.334C= (p.Arg112=) c.463C= (p.Arg155=) c.454C= (p.Arg152=) c.445C= (p.Arg149=) c.316C= (p.Arg106=) n.69+2092G= | |
17 | g.8121906G>T | CA8368656 | HES7 | c.358C>A (p.Arg120Ser) c.343C>A (p.Arg115Ser) c.334C>A (p.Arg112Ser) c.463C>A (p.Arg155Ser) c.454C>A (p.Arg152Ser) c.445C>A (p.Arg149Ser) c.316C>A (p.Arg106Ser) n.69+2092G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121907G>A | CA497955487 | HES7 | c.357C>T (p.Ala119=) c.342C>T (p.Ala114=) c.333C>T (p.Ala111=) c.462C>T (p.Ala154=) c.453C>T (p.Ala151=) c.444C>T (p.Ala148=) c.315C>T (p.Ala105=) n.69+2093G>A | gnomAD v4 |
17 | g.8121907G>C | CA497955488 | HES7 | c.357C>G (p.Ala119=) c.342C>G (p.Ala114=) c.333C>G (p.Ala111=) c.462C>G (p.Ala154=) c.453C>G (p.Ala151=) c.444C>G (p.Ala148=) c.315C>G (p.Ala105=) n.69+2093G>C | |
17 | g.8121907G>T | CA497955489 | HES7 | c.357C>A (p.Ala119=) c.342C>A (p.Ala114=) c.333C>A (p.Ala111=) c.462C>A (p.Ala154=) c.453C>A (p.Ala151=) c.444C>A (p.Ala148=) c.315C>A (p.Ala105=) n.69+2093G>T | |
17 | g.8121908G>A | CA397988499 | HES7 | c.356C>T (p.Ala119Val) c.341C>T (p.Ala114Val) c.332C>T (p.Ala111Val) c.461C>T (p.Ala154Val) c.452C>T (p.Ala151Val) c.443C>T (p.Ala148Val) c.314C>T (p.Ala105Val) n.69+2094G>A | gnomAD v4 |
17 | g.8121908G>C | CA397988500 | HES7 | c.356C>G (p.Ala119Gly) c.341C>G (p.Ala114Gly) c.332C>G (p.Ala111Gly) c.461C>G (p.Ala154Gly) c.452C>G (p.Ala151Gly) c.443C>G (p.Ala148Gly) c.314C>G (p.Ala105Gly) n.69+2094G>C | |
17 | g.8121908G>T | CA397988502 | HES7 | c.356C>A (p.Ala119Asp) c.341C>A (p.Ala114Asp) c.332C>A (p.Ala111Asp) c.461C>A (p.Ala154Asp) c.452C>A (p.Ala151Asp) c.443C>A (p.Ala148Asp) c.314C>A (p.Ala105Asp) n.69+2094G>T | gnomAD v4 |
17 | g.8121909C>A | CA8368658 | HES7 | c.355G>T (p.Ala119Ser) c.340G>T (p.Ala114Ser) c.331G>T (p.Ala111Ser) c.460G>T (p.Ala154Ser) c.451G>T (p.Ala151Ser) c.442G>T (p.Ala148Ser) c.313G>T (p.Ala105Ser) n.69+2095C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121909C= | CA2246160667 | HES7 | c.355G= (p.Ala119=) c.340G= (p.Ala114=) c.331G= (p.Ala111=) c.460G= (p.Ala154=) c.451G= (p.Ala151=) c.442G= (p.Ala148=) c.313G= (p.Ala105=) n.69+2095C= | |
17 | g.8121909C>G | CA397988505 | HES7 | c.355G>C (p.Ala119Pro) c.340G>C (p.Ala114Pro) c.331G>C (p.Ala111Pro) c.460G>C (p.Ala154Pro) c.451G>C (p.Ala151Pro) c.442G>C (p.Ala148Pro) c.313G>C (p.Ala105Pro) n.69+2095C>G | |
17 | g.8121909C>T | CA397988507 | HES7 | c.355G>A (p.Ala119Thr) c.340G>A (p.Ala114Thr) c.331G>A (p.Ala111Thr) c.460G>A (p.Ala154Thr) c.451G>A (p.Ala151Thr) c.442G>A (p.Ala148Thr) c.313G>A (p.Ala105Thr) n.69+2095C>T | gnomAD v4 |
17 | g.8121910G>A | CA8368659 | HES7 | c.354C>T (p.Ala118=) c.339C>T (p.Ala113=) c.330C>T (p.Ala110=) c.459C>T (p.Ala153=) c.450C>T (p.Ala150=) c.441C>T (p.Ala147=) c.312C>T (p.Ala104=) n.69+2096G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121910G>C | CA497955490 | HES7 | c.354C>G (p.Ala118=) c.339C>G (p.Ala113=) c.330C>G (p.Ala110=) c.459C>G (p.Ala153=) c.450C>G (p.Ala150=) c.441C>G (p.Ala147=) c.312C>G (p.Ala104=) n.69+2096G>C | |
17 | g.8121910G= | CA2246160670 | HES7 | c.354C= (p.Ala118=) c.339C= (p.Ala113=) c.330C= (p.Ala110=) c.459C= (p.Ala153=) c.450C= (p.Ala150=) c.441C= (p.Ala147=) c.312C= (p.Ala104=) n.69+2096G= | |
17 | g.8121910G>T | CA497955491 | HES7 | c.354C>A (p.Ala118=) c.339C>A (p.Ala113=) c.330C>A (p.Ala110=) c.459C>A (p.Ala153=) c.450C>A (p.Ala150=) c.441C>A (p.Ala147=) c.312C>A (p.Ala104=) n.69+2096G>T | gnomAD v4 |
17 | g.8121911G>A | CA397988511 | HES7 | c.353C>T (p.Ala118Val) c.338C>T (p.Ala113Val) c.329C>T (p.Ala110Val) c.458C>T (p.Ala153Val) c.449C>T (p.Ala150Val) c.440C>T (p.Ala147Val) c.311C>T (p.Ala104Val) n.69+2097G>A | gnomAD v4 |
17 | g.8121911G>C | CA397988513 | HES7 | c.353C>G (p.Ala118Gly) c.338C>G (p.Ala113Gly) c.329C>G (p.Ala110Gly) c.458C>G (p.Ala153Gly) c.449C>G (p.Ala150Gly) c.440C>G (p.Ala147Gly) c.311C>G (p.Ala104Gly) n.69+2097G>C | |
17 | g.8121911G>T | CA397988515 | HES7 | c.353C>A (p.Ala118Asp) c.338C>A (p.Ala113Asp) c.329C>A (p.Ala110Asp) c.458C>A (p.Ala153Asp) c.449C>A (p.Ala150Asp) c.440C>A (p.Ala147Asp) c.311C>A (p.Ala104Asp) n.69+2097G>T | gnomAD v4 |
17 | g.8121912C>A | CA397988521 | HES7 | c.352G>T (p.Ala118Ser) c.337G>T (p.Ala113Ser) c.328G>T (p.Ala110Ser) c.457G>T (p.Ala153Ser) c.448G>T (p.Ala150Ser) c.439G>T (p.Ala147Ser) c.310G>T (p.Ala104Ser) n.69+2098C>A | gnomAD v4 |
17 | g.8121912C>G | CA397988519 | HES7 | c.352G>C (p.Ala118Pro) c.337G>C (p.Ala113Pro) c.328G>C (p.Ala110Pro) c.457G>C (p.Ala153Pro) c.448G>C (p.Ala150Pro) c.439G>C (p.Ala147Pro) c.310G>C (p.Ala104Pro) n.69+2098C>G | |
17 | g.8121912C>T | CA397988517 | HES7 | c.352G>A (p.Ala118Thr) c.337G>A (p.Ala113Thr) c.328G>A (p.Ala110Thr) c.457G>A (p.Ala153Thr) c.448G>A (p.Ala150Thr) c.439G>A (p.Ala147Thr) c.310G>A (p.Ala104Thr) n.69+2098C>T | gnomAD v4 |
17 | g.8121913C>A | CA497955492 | HES7 | c.351G>T (p.Pro117=) c.336G>T (p.Pro112=) c.327G>T (p.Pro109=) c.456G>T (p.Pro152=) c.447G>T (p.Pro149=) c.438G>T (p.Pro146=) c.309G>T (p.Pro103=) n.69+2099C>A | gnomAD v4 |
17 | g.8121913C>G | CA497955493 | HES7 | c.351G>C (p.Pro117=) c.336G>C (p.Pro112=) c.327G>C (p.Pro109=) c.456G>C (p.Pro152=) c.447G>C (p.Pro149=) c.438G>C (p.Pro146=) c.309G>C (p.Pro103=) n.69+2099C>G | |
17 | g.8121913C>T | CA497955494 | HES7 | c.351G>A (p.Pro117=) c.336G>A (p.Pro112=) c.327G>A (p.Pro109=) c.456G>A (p.Pro152=) c.447G>A (p.Pro149=) c.438G>A (p.Pro146=) c.309G>A (p.Pro103=) n.69+2099C>T | gnomAD v4 |
17 | g.8121914G>A | CA397988523 | HES7 | c.350C>T (p.Pro117Leu) c.335C>T (p.Pro112Leu) c.326C>T (p.Pro109Leu) c.455C>T (p.Pro152Leu) c.446C>T (p.Pro149Leu) c.437C>T (p.Pro146Leu) c.308C>T (p.Pro103Leu) n.69+2100G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121914G>C | CA8368660 | HES7 | c.350C>G (p.Pro117Arg) c.335C>G (p.Pro112Arg) c.326C>G (p.Pro109Arg) c.455C>G (p.Pro152Arg) c.446C>G (p.Pro149Arg) c.437C>G (p.Pro146Arg) c.308C>G (p.Pro103Arg) n.69+2100G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.8121914G= | CA2246160675 | HES7 | c.350C= (p.Pro117=) c.335C= (p.Pro112=) c.326C= (p.Pro109=) c.455C= (p.Pro152=) c.446C= (p.Pro149=) c.437C= (p.Pro146=) c.308C= (p.Pro103=) n.69+2100G= | |
17 | g.8121914G>T | CA397988526 | HES7 | c.350C>A (p.Pro117Gln) c.335C>A (p.Pro112Gln) c.326C>A (p.Pro109Gln) c.455C>A (p.Pro152Gln) c.446C>A (p.Pro149Gln) c.437C>A (p.Pro146Gln) c.308C>A (p.Pro103Gln) n.69+2100G>T | ClinVar dbSNP gnomAD v4 |
17 | g.8121915G>A | CA397988529 | HES7 | c.349C>T (p.Pro117Ser) c.334C>T (p.Pro112Ser) c.325C>T (p.Pro109Ser) c.454C>T (p.Pro152Ser) c.445C>T (p.Pro149Ser) c.436C>T (p.Pro146Ser) c.307C>T (p.Pro103Ser) n.69+2101G>A | |
17 | g.8121915G>C | CA397988530 | HES7 | c.349C>G (p.Pro117Ala) c.334C>G (p.Pro112Ala) c.325C>G (p.Pro109Ala) c.454C>G (p.Pro152Ala) c.445C>G (p.Pro149Ala) c.436C>G (p.Pro146Ala) c.307C>G (p.Pro103Ala) n.69+2101G>C | |
17 | g.8121915G>T | CA397988532 | HES7 | c.349C>A (p.Pro117Thr) c.334C>A (p.Pro112Thr) c.325C>A (p.Pro109Thr) c.454C>A (p.Pro152Thr) c.445C>A (p.Pro149Thr) c.436C>A (p.Pro146Thr) c.307C>A (p.Pro103Thr) n.69+2101G>T | gnomAD v4 |