Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.8117792_8126946delCA2573154518 ClinVar
17g.8121781_8121888delCA2635937286HES7c.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
17g.8121805_8121828dupCA8368625HES7c.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
17g.8121823_8121907delCA2635937562HES7c.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
17g.8121815G>ACA397988105HES7c.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
17g.8121815G>CCA397988107HES7c.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
17g.8121815G>TCA397988110HES7c.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
17g.8121817delCA2635937591HES7c.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
17g.8121816G>ACA397988112HES7c.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
17g.8121816G>CCA397988114HES7c.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
17g.8121816G>TCA397988116HES7c.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
17g.8121817G>ACA497955268HES7c.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
17g.8121817G>CCA497955270HES7c.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
17g.8121817G>TCA497955271HES7c.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
17g.8121818C>ACA397988117HES7c.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
17g.8121818C=CA2246160379HES7c.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=
17g.8121818C>GCA397988119HES7c.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
17g.8121818C>TCA397988121HES7c.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
17g.8121819G>ACA397988124HES7c.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
17g.8121819G>CCA397988126HES7c.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
17g.8121819G>TCA397988123HES7c.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
17g.8121820C>ACA497955277HES7c.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
17g.8121820C=CA2246160384HES7c.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=
17g.8121820C>GCA497955279HES7c.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
17g.8121820C>TCA8368628HES7c.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
17g.8121821G>ACA397988129HES7c.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
17g.8121821G>CCA397988133HES7c.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
17g.8121821G=CA2246160389HES7c.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=
17g.8121821G>TCA397988131HES7c.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
17g.8121822G>ACA8368629HES7c.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
17g.8121822G>CCA397988138HES7c.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
17g.8121822G=CA2246160398HES7c.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=
17g.8121822G>TCA397988135HES7c.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
17g.8121823C>ACA497955283HES7c.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
17g.8121823C=CA2246160401HES7c.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=
17g.8121823C>GCA497955288HES7c.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
17g.8121823C>TCA287537174HES7c.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
17g.8121824G>ACA397988140HES7c.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
17g.8121824G>CCA8368630HES7c.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
17g.8121824G=CA2246160407HES7c.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=
17g.8121824G>TCA397988144HES7c.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
17g.8121825C>ACA397988145HES7c.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
17g.8121825C>GCA397988146HES7c.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
17g.8121825C>TCA397988147HES7c.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
17g.8121826T>ACA497955292HES7c.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
17g.8121826T>CCA497955293HES7c.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
17g.8121826T>GCA497955295HES7c.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
17g.8121827G>ACA397988148HES7c.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
17g.8121827G>CCA397988149HES7c.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
17g.8121827G=CA2246160411HES7c.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=
17g.8121827G>TCA287537176HES7c.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
17g.8121828G>ACA397988150HES7c.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
17g.8121828G>CCA287537181HES7c.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
17g.8121828G=CA2246160416HES7c.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=
17g.8121828G>TCA397988151HES7c.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
17g.8121829A>CCA497955302HES7c.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
17g.8121829A>GCA497955304HES7c.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
17g.8121829A>TCA497955306HES7c.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
17g.8121830G>ACA397988152HES7c.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
17g.8121830G>CCA397988155HES7c.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
17g.8121830G>TCA397988154HES7c.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
17g.8121831G>ACA397988156HES7c.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
17g.8121831G>CCA397988158HES7c.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
17g.8121831G>TCA397988159HES7c.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
17g.8121832C>ACA397988160HES7c.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
17g.8121832C=CA2246160421HES7c.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=
17g.8121832C>GCA397988161HES7c.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
17g.8121832C>TCA497955309HES7c.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
17g.8121833C>ACA397988163HES7c.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
17g.8121833C=CA2246160424HES7c.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=
17g.8121833C>GCA397988166HES7c.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
17g.8121833C>TCA397988168HES7c.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
17g.8121834T>ACA397988170HES7c.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
17g.8121834T>CCA397988172HES7c.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
17g.8121834T>GCA497955312HES7c.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
17g.8121835C>ACA497955313HES7c.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
17g.8121835C=CA2246160427HES7c.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=
17g.8121835C>GCA8368631HES7c.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
17g.8121835C>TCA497955314HES7c.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
17g.8121835_8121836delinsCGCA2246160429HES7c.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
17g.8121836G>ACA397988178HES7c.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
17g.8121836G>CCA8368632HES7c.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
17g.8121836G=CA2246160432HES7c.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=
17g.8121836G>TCA397988176HES7c.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
17g.8121837delCA2246160433HES7c.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
17g.8121837G>ACA397988179HES7c.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
17g.8121837G>CCA397988181HES7c.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
17g.8121837G=CA2246160439HES7c.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=
17g.8121837G>TCA8368633HES7c.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
17g.8121838delCA2576161674HES7c.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
17g.8121838A>CCA397988185HES7c.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
17g.8121838A>GCA497955323HES7c.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
17g.8121838A>TCA397988186HES7c.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
17g.8121839T>ACA397988190HES7c.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
17g.8121839T>CCA397988194HES7c.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
17g.8121839T>GCA397988196HES7c.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
17g.8121839T=CA2246160443HES7c.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=
17g.8121840C>ACA8368634HES7c.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
17g.8121840C=CA2246160447HES7c.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=
17g.8121840C>GCA397988199HES7c.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
17g.8121840C>TCA397988201HES7c.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
17g.8121841T>ACA497955329HES7c.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
17g.8121841T>CCA497955330HES7c.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
17g.8121841T>GCA497955331HES7c.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
17g.8121842A=CA2246160448HES7c.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=
17g.8121842A>CCA397988202HES7c.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
17g.8121842A>GCA397988205HES7c.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
17g.8121842A>TCA8368636HES7c.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
17g.8121842_8121843delinsACCA2246160449HES7c.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
17g.8121843C>ACA397988207HES7c.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
17g.8121843C=CA2246160454HES7c.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=
17g.8121843C>GCA397988208HES7c.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
17g.8121843C>TCA397988210HES7c.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
17g.8121844delCA8368635HES7c.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
17g.8121844C>ACA497955340HES7c.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
17g.8121844C=CA2246160463HES7c.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=
17g.8121844C>GCA497955343HES7c.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
17g.8121844C>TCA8368637HES7c.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
17g.8121845G>ACA8368638HES7c.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
17g.8121845G>CCA397988215HES7c.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
17g.8121845G=CA2246160471HES7c.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=
17g.8121845G>TCA397988216HES7c.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
17g.8121846G>ACA8368639HES7c.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
17g.8121846G>CCA397988218HES7c.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
17g.8121846G=CA2246160476HES7c.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=
17g.8121846G>TCA397988220HES7c.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
17g.8121847C>ACA8368640HES7c.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
17g.8121847C=CA2246160481HES7c.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=
17g.8121847C>GCA397988221HES7c.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
17g.8121847C>TCA497955353HES7c.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
17g.8121847_8121862delinsCTTGGGCCGGGGCGGTCA2246160480HES7c.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
17g.8121848T>ACA397988224HES7c.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
17g.8121848T>CCA397988226HES7c.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
17g.8121848T>GCA397988228HES7c.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
17g.8121853_8121867delCA891863123HES7c.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
17g.8121849T>ACA397988230HES7c.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
17g.8121849T>CCA397988232HES7c.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
17g.8121849T>GCA397988234HES7c.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
17g.8121849T=CA2246160489HES7c.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=
17g.8121850G>ACA497955361HES7c.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
17g.8121850G>CCA287537215HES7c.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
17g.8121850G=CA2246160493HES7c.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=
17g.8121850G>TCA287537216HES7c.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
17g.8121851G>ACA397988238HES7c.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
17g.8121851G>CCA397988239HES7c.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
17g.8121851G>TCA397988241HES7c.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
17g.8121852G>ACA397988243HES7c.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
17g.8121852G>CCA397988244HES7c.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
17g.8121852G>TCA397988246HES7c.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
17g.8121853C>ACA497955370HES7c.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
17g.8121853C=CA2246160499HES7c.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=
17g.8121853C>GCA497955373HES7c.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
17g.8121853C>TCA497955375HES7c.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
17g.8121854C>ACA397988251HES7c.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
17g.8121854C=CA2246160506HES7c.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=
17g.8121854C>GCA397988248HES7c.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
17g.8121854C>TCA397988250HES7c.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
17g.8121855G>ACA397988256HES7c.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
17g.8121855G>CCA8368641HES7c.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
17g.8121855G=CA2246160518HES7c.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=
17g.8121855G>TCA287537218HES7c.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
17g.8121858delCA2635937844HES7c.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
17g.8121861_8121870dupCA145465HES7c.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
17g.8121856G>ACA497955390HES7c.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
17g.8121856G>CCA497955389HES7c.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
17g.8121856G=CA2246160526HES7c.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=
17g.8121856G>TCA497955388HES7c.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
17g.8121857G>ACA397988259HES7c.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
17g.8121857G>CCA397988261HES7c.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
17g.8121857G>TCA397988263HES7c.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
17g.8121858G>ACA397988265HES7c.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
17g.8121858G>CCA397988267HES7c.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
17g.8121858G=CA2246160531HES7c.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=
17g.8121858G>TCA8368642HES7c.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
17g.8121859C>ACA287537220HES7c.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
17g.8121859C=CA2246160535HES7c.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=
17g.8121859C>GCA497955395HES7c.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
17g.8121859C>TCA497955396HES7c.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
17g.8121860G>ACA8368643HES7c.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
17g.8121860G>CCA397988271HES7c.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
17g.8121860G=CA2246160542HES7c.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=
17g.8121860G>TCA397988273HES7c.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
17g.8121861G>ACA287537246HES7c.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
17g.8121861G>CCA397988277HES7c.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
17g.8121861G=CA2246160546HES7c.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=
17g.8121861G>TCA397988275HES7c.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
17g.8121862T>ACA397988281HES7c.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
17g.8121862T>CCA8368644HES7c.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
17g.8121862T>GCA287537255HES7c.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
17g.8121862T=CA2246160551HES7c.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=
17g.8121863T>ACA397988288HES7c.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
17g.8121863T>CCA397988290HES7c.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
17g.8121863T>GCA397988293HES7c.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
17g.8121863T=CA2246160559HES7c.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=
17g.8121864T>ACA397988296HES7c.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
17g.8121864T>CCA397988299HES7c.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
17g.8121864T>GCA397988302HES7c.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
17g.8121865G>ACA497955407HES7c.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
17g.8121865G>CCA497955408HES7c.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
17g.8121865G>TCA497955409HES7c.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
17g.8121868delCA2635937898HES7c.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
17g.8121866G>ACA397988306HES7c.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
17g.8121866G>CCA397988308HES7c.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
17g.8121866G=CA2246160563HES7c.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=
17g.8121866G>TCA8368645HES7c.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
17g.8121867G>ACA397988325HES7c.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
17g.8121867G>CCA397988322HES7c.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
17g.8121867G>TCA397988312HES7c.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
17g.8121868G>ACA497955413HES7c.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
17g.8121868G>CCA497955414HES7c.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
17g.8121868G=CA2246160569HES7c.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=
17g.8121868G>TCA497955415HES7c.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
17g.8121869C>ACA8368646HES7c.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
17g.8121869C=CA2246160570HES7c.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=
17g.8121869C>GCA397988329HES7c.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
17g.8121869C>TCA397988332HES7c.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
17g.8121870G>ACA8368647HES7c.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
17g.8121870G>CCA397988338HES7c.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
17g.8121870G=CA2246160574HES7c.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=
17g.8121870G>TCA8368648HES7c.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
17g.8121871C>ACA497955421HES7c.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
17g.8121871C>GCA497955422HES7c.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
17g.8121871C>TCA497955423HES7c.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
17g.8121872A>CCA397988344HES7c.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
17g.8121872A>GCA397988347HES7c.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
17g.8121872A>TCA397988349HES7c.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
17g.8121873G>ACA497955427HES7c.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
17g.8121873G>CCA397988352HES7c.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
17g.8121873G>TCA397988355HES7c.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
17g.8121874A=CA2246160577HES7c.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=
17g.8121874A>CCA397988359HES7c.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
17g.8121874A>GCA497955431HES7c.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
17g.8121874A>TCA397988362HES7c.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
17g.8121875T>ACA397988366HES7c.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
17g.8121875T>CCA8368649HES7c.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
17g.8121875T>GCA397988364HES7c.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
17g.8121875T=CA2246160579HES7c.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=
17g.8121876A>CCA397988376HES7c.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
17g.8121876A>GCA397988371HES7c.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
17g.8121876A>TCA397988374HES7c.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
17g.8121877G>ACA497955439HES7c.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
17g.8121877G>CCA497955438HES7c.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
17g.8121877G=CA2246160586HES7c.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=
17g.8121877G>TCA497955437HES7c.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
17g.8121878C>ACA397988379HES7c.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
17g.8121878C=CA2246160588HES7c.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=
17g.8121878C>GCA397988381HES7c.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
17g.8121878C>TCA397988383HES7c.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
17g.8121879C>ACA397988388HES7c.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
17g.8121879C=CA2246160592HES7c.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=
17g.8121879C>GCA8368650HES7c.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
17g.8121879C>TCA397988386HES7c.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
17g.8121880G>ACA8368652HES7c.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
17g.8121880G>CCA397988391HES7c.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
17g.8121880G=CA2246160596HES7c.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=
17g.8121880G>TCA8368651HES7c.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
17g.8121881T>ACA397988394HES7c.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
17g.8121881T>CCA8368653HES7c.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
17g.8121881T>GCA397988396HES7c.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
17g.8121881T=CA2246160603HES7c.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=
17g.8121882G>ACA397988399HES7c.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
17g.8121882G>CCA397988402HES7c.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
17g.8121882G=CA2246160610HES7c.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=
17g.8121882G>TCA397988400HES7c.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
17g.8121883C>ACA497955450HES7c.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
17g.8121883C>GCA497955451HES7c.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
17g.8121883C>TCA497955452HES7c.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
17g.8121884A=CA2246160616HES7c.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=
17g.8121884A>CCA287537298HES7c.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
17g.8121884A>GCA397988405HES7c.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
17g.8121884A>TCA397988407HES7c.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
17g.8121885G>ACA497955453HES7c.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
17g.8121885G>CCA397988409HES7c.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
17g.8121885G>TCA397988411HES7c.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
17g.8121890_8121931delCA2635938137HES7c.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
17g.8121886C>ACA497955455HES7c.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
17g.8121886C=CA2246160623HES7c.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=
17g.8121886C>GCA497955456HES7c.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
17g.8121886C>TCA497955457HES7c.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
17g.8121887G>ACA397988413HES7c.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
17g.8121887G>CCA397988415HES7c.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
17g.8121887G=CA2246160626HES7c.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=
17g.8121887G>TCA397988417HES7c.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
17g.8121888C>ACA8368654HES7c.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
17g.8121888C=CA2246160631HES7c.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=
17g.8121888C>GCA397988420HES7c.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
17g.8121888C>TCA397988422HES7c.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
17g.8121889G>ACA497955461HES7c.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
17g.8121889G>CCA497955462HES7c.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
17g.8121889G=CA2246160635HES7c.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=
17g.8121889G>TCA497955463HES7c.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
17g.8121890_8121892delCA2576161675HES7c.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
17g.8121890G>ACA397988427HES7c.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
17g.8121890G>CCA397988426HES7c.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
17g.8121890G=CA2246160640HES7c.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=
17g.8121890G>TCA397988424HES7c.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
17g.8121891A>CCA397988432HES7c.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
17g.8121891A>GCA397988429HES7c.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
17g.8121891A>TCA397988431HES7c.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
17g.8121892delCA2531398372HES7c.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
17g.8121892G>ACA497955467HES7c.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
17g.8121892G>CCA397988434HES7c.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
17g.8121892G=CA2246160642HES7c.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=
17g.8121892G>TCA397988435HES7c.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
17g.8121893A>CCA397988437HES7c.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
17g.8121893A>GCA397988439HES7c.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
17g.8121893A>TCA397988441HES7c.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
17g.8121893_8121909dupCA624868564HES7c.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
17g.8121894A>CCA397988443HES7c.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
17g.8121894A>GCA397988445HES7c.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
17g.8121894A>TCA397988446HES7c.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
17g.8121895G>ACA497955472HES7c.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
17g.8121895G>CCA497955474HES7c.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
17g.8121895G>TCA497955471HES7c.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
17g.8121896A=CA2246160644HES7c.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=
17g.8121896A>CCA397988449HES7c.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
17g.8121896A>GCA397988450HES7c.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
17g.8121896A>TCA397988452HES7c.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
17g.8121896_8121899dupCA2635938175HES7c.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
17g.8121897G>ACA397988456HES7c.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
17g.8121897G>CCA397988458HES7c.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
17g.8121897G=CA2246160645HES7c.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=
17g.8121897G>TCA397988455HES7c.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
17g.8121898C>ACA397988460HES7c.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
17g.8121898C>GCA397988462HES7c.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
17g.8121898C>TCA497955477HES7c.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
17g.8121899T>ACA397988465HES7c.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
17g.8121899T>CCA397988466HES7c.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
17g.8121899T>GCA397988468HES7c.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
17g.8121900G>ACA397988473HES7c.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
17g.8121900G>CCA397988470HES7c.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
17g.8121900G>TCA397988472HES7c.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
17g.8121901G>ACA497955482HES7c.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
17g.8121901G>CCA497955481HES7c.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
17g.8121901G=CA2246160647HES7c.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=
17g.8121901G>TCA497955480HES7c.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
17g.8121902G>ACA397988476HES7c.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
17g.8121902G>CCA397988477HES7c.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
17g.8121902G>TCA397988478HES7c.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
17g.8121903C>ACA8368655HES7c.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
17g.8121903C=CA2246160650HES7c.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=
17g.8121903C>GCA397988481HES7c.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
17g.8121903C>TCA397988485HES7c.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
17g.8121904G>ACA497955484HES7c.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
17g.8121904G>CCA497955485HES7c.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
17g.8121904G>TCA497955486HES7c.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
17g.8121905C>ACA397988490HES7c.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
17g.8121905C=CA2246160657HES7c.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=
17g.8121905C>GCA397988492HES7c.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
17g.8121905C>TCA397988489HES7c.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
17g.8121906G>ACA397988495HES7c.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
17g.8121906G>CCA8368657HES7c.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
17g.8121906G=CA2246160662HES7c.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=
17g.8121906G>TCA8368656HES7c.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
17g.8121907G>ACA497955487HES7c.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
17g.8121907G>CCA497955488HES7c.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
17g.8121907G>TCA497955489HES7c.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
17g.8121908G>ACA397988499HES7c.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
17g.8121908G>CCA397988500HES7c.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
17g.8121908G>TCA397988502HES7c.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
17g.8121909C>ACA8368658HES7c.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
17g.8121909C=CA2246160667HES7c.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=
17g.8121909C>GCA397988505HES7c.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
17g.8121909C>TCA397988507HES7c.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
17g.8121910G>ACA8368659HES7c.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
17g.8121910G>CCA497955490HES7c.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
17g.8121910G=CA2246160670HES7c.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=
17g.8121910G>TCA497955491HES7c.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
17g.8121911G>ACA397988511HES7c.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
17g.8121911G>CCA397988513HES7c.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
17g.8121911G>TCA397988515HES7c.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
17g.8121912C>ACA397988521HES7c.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
17g.8121912C>GCA397988519HES7c.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
17g.8121912C>TCA397988517HES7c.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
17g.8121913C>ACA497955492HES7c.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
17g.8121913C>GCA497955493HES7c.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
17g.8121913C>TCA497955494HES7c.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
17g.8121914G>ACA397988523HES7c.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
17g.8121914G>CCA8368660HES7c.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
17g.8121914G=CA2246160675HES7c.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=
17g.8121914G>TCA397988526HES7c.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
17g.8121915G>ACA397988529HES7c.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
17g.8121915G>CCA397988530HES7c.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
17g.8121915G>TCA397988532HES7c.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

Number of alleles fetched