Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.77482188C>A	CA401207759	SEPTIN9	c.712C>A (p.Pro238Thr) c.766C>A (p.Pro256Thr) c.274C>A (p.Pro92Thr) n.70C>A n.815C>A c.13C>A (p.Pro5Thr) c.745C>A (p.Pro249Thr) c.430C>A (p.Pro144Thr) c.94C>A (p.Pro32Thr) c.196-5294C>A (n.196-5294C>A) c.217C>A (p.Pro73Thr) c.709C>A (p.Pro237Thr) c.193C>A (p.Pro65Thr) n.330C>A c.859C>A (p.Pro287Thr) c.856C>A (p.Pro286Thr) c.721C>A (p.Pro241Thr)
17	g.77482188C>G	CA401207757	SEPTIN9	c.712C>G (p.Pro238Ala) c.766C>G (p.Pro256Ala) c.274C>G (p.Pro92Ala) n.70C>G n.815C>G c.13C>G (p.Pro5Ala) c.745C>G (p.Pro249Ala) c.430C>G (p.Pro144Ala) c.94C>G (p.Pro32Ala) c.196-5294C>G (n.196-5294C>G) c.217C>G (p.Pro73Ala) c.709C>G (p.Pro237Ala) c.193C>G (p.Pro65Ala) n.330C>G c.859C>G (p.Pro287Ala) c.856C>G (p.Pro286Ala) c.721C>G (p.Pro241Ala)
17	g.77482188C>T	CA401207758	SEPTIN9	c.712C>T (p.Pro238Ser) c.766C>T (p.Pro256Ser) c.274C>T (p.Pro92Ser) n.70C>T n.815C>T c.13C>T (p.Pro5Ser) c.745C>T (p.Pro249Ser) c.430C>T (p.Pro144Ser) c.94C>T (p.Pro32Ser) c.196-5294C>T (n.196-5294C>T) c.217C>T (p.Pro73Ser) c.709C>T (p.Pro237Ser) c.193C>T (p.Pro65Ser) n.330C>T c.859C>T (p.Pro287Ser) c.856C>T (p.Pro286Ser) c.721C>T (p.Pro241Ser)
17	g.77482189C>A	CA401207760	SEPTIN9	c.713C>A (p.Pro238His) c.767C>A (p.Pro256His) c.275C>A (p.Pro92His) n.71C>A n.816C>A c.14C>A (p.Pro5His) c.746C>A (p.Pro249His) c.431C>A (p.Pro144His) c.95C>A (p.Pro32His) c.196-5293C>A (n.196-5293C>A) c.218C>A (p.Pro73His) c.710C>A (p.Pro237His) c.194C>A (p.Pro65His) n.331C>A c.860C>A (p.Pro287His) c.857C>A (p.Pro286His) c.722C>A (p.Pro241His)
17	g.77482189C=	CA2276500404	SEPTIN9	c.713C= (p.Pro238=) c.767C= (p.Pro256=) c.275C= (p.Pro92=) n.71C= n.816C= c.14C= (p.Pro5=) c.746C= (p.Pro249=) c.431C= (p.Pro144=) c.95C= (p.Pro32=) c.196-5293C= (n.196-5293C=) c.218C= (p.Pro73=) c.710C= (p.Pro237=) c.194C= (p.Pro65=) n.331C= c.860C= (p.Pro287=) c.857C= (p.Pro286=) c.722C= (p.Pro241=)
17	g.77482189C>G	CA401207761	SEPTIN9	c.713C>G (p.Pro238Arg) c.767C>G (p.Pro256Arg) c.275C>G (p.Pro92Arg) n.71C>G n.816C>G c.14C>G (p.Pro5Arg) c.746C>G (p.Pro249Arg) c.431C>G (p.Pro144Arg) c.95C>G (p.Pro32Arg) c.196-5293C>G (n.196-5293C>G) c.218C>G (p.Pro73Arg) c.710C>G (p.Pro237Arg) c.194C>G (p.Pro65Arg) n.331C>G c.860C>G (p.Pro287Arg) c.857C>G (p.Pro286Arg) c.722C>G (p.Pro241Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.77482189C>T	CA401207762	SEPTIN9	c.713C>T (p.Pro238Leu) c.767C>T (p.Pro256Leu) c.275C>T (p.Pro92Leu) n.71C>T n.816C>T c.14C>T (p.Pro5Leu) c.746C>T (p.Pro249Leu) c.431C>T (p.Pro144Leu) c.95C>T (p.Pro32Leu) c.196-5293C>T (n.196-5293C>T) c.218C>T (p.Pro73Leu) c.710C>T (p.Pro237Leu) c.194C>T (p.Pro65Leu) n.331C>T c.860C>T (p.Pro287Leu) c.857C>T (p.Pro286Leu) c.722C>T (p.Pro241Leu)	gnomAD v4
17	g.77482190C>A	CA501952047	SEPTIN9	c.714C>A (p.Pro238=) c.768C>A (p.Pro256=) c.276C>A (p.Pro92=) n.72C>A n.817C>A c.15C>A (p.Pro5=) c.747C>A (p.Pro249=) c.432C>A (p.Pro144=) c.96C>A (p.Pro32=) c.196-5292C>A (n.196-5292C>A) c.219C>A (p.Pro73=) c.711C>A (p.Pro237=) c.195C>A (p.Pro65=) n.332C>A c.861C>A (p.Pro287=) c.858C>A (p.Pro286=) c.723C>A (p.Pro241=)	gnomAD v4
17	g.77482190C=	CA2276500405	SEPTIN9	c.714C= (p.Pro238=) c.768C= (p.Pro256=) c.276C= (p.Pro92=) n.72C= n.817C= c.15C= (p.Pro5=) c.747C= (p.Pro249=) c.432C= (p.Pro144=) c.96C= (p.Pro32=) c.196-5292C= (n.196-5292C=) c.219C= (p.Pro73=) c.711C= (p.Pro237=) c.195C= (p.Pro65=) n.332C= c.861C= (p.Pro287=) c.858C= (p.Pro286=) c.723C= (p.Pro241=)
17	g.77482190C>G	CA501952048	SEPTIN9	c.714C>G (p.Pro238=) c.768C>G (p.Pro256=) c.276C>G (p.Pro92=) n.72C>G n.817C>G c.15C>G (p.Pro5=) c.747C>G (p.Pro249=) c.432C>G (p.Pro144=) c.96C>G (p.Pro32=) c.196-5292C>G (n.196-5292C>G) c.219C>G (p.Pro73=) c.711C>G (p.Pro237=) c.195C>G (p.Pro65=) n.332C>G c.861C>G (p.Pro287=) c.858C>G (p.Pro286=) c.723C>G (p.Pro241=)
17	g.77482190C>T	CA501952049	SEPTIN9	c.714C>T (p.Pro238=) c.768C>T (p.Pro256=) c.276C>T (p.Pro92=) n.72C>T n.817C>T c.15C>T (p.Pro5=) c.747C>T (p.Pro249=) c.432C>T (p.Pro144=) c.96C>T (p.Pro32=) c.196-5292C>T (n.196-5292C>T) c.219C>T (p.Pro73=) c.711C>T (p.Pro237=) c.195C>T (p.Pro65=) n.332C>T c.861C>T (p.Pro287=) c.858C>T (p.Pro286=) c.723C>T (p.Pro241=)	dbSNP gnomAD v4
17	g.77482191A>C	CA501952050	SEPTIN9	c.715A>C (p.Arg239=) c.769A>C (p.Arg257=) c.277A>C (p.Arg93=) n.73A>C n.818A>C c.16A>C (p.Arg6=) c.748A>C (p.Arg250=) c.433A>C (p.Arg145=) c.97A>C (p.Arg33=) c.196-5291A>C (n.196-5291A>C) c.220A>C (p.Arg74=) c.712A>C (p.Arg238=) c.196A>C (p.Arg66=) n.333A>C c.862A>C (p.Arg288=) c.859A>C (p.Arg287=) c.724A>C (p.Arg242=)
17	g.77482191A>G	CA401207763	SEPTIN9	c.715A>G (p.Arg239Gly) c.769A>G (p.Arg257Gly) c.277A>G (p.Arg93Gly) n.73A>G n.818A>G c.16A>G (p.Arg6Gly) c.748A>G (p.Arg250Gly) c.433A>G (p.Arg145Gly) c.97A>G (p.Arg33Gly) c.196-5291A>G (n.196-5291A>G) c.220A>G (p.Arg74Gly) c.712A>G (p.Arg238Gly) c.196A>G (p.Arg66Gly) n.333A>G c.862A>G (p.Arg288Gly) c.859A>G (p.Arg287Gly) c.724A>G (p.Arg242Gly)
17	g.77482191A>T	CA401207764	SEPTIN9	c.715A>T (p.Arg239Ter) c.769A>T (p.Arg257Ter) c.277A>T (p.Arg93Ter) n.73A>T n.818A>T c.16A>T (p.Arg6Ter) c.748A>T (p.Arg250Ter) c.433A>T (p.Arg145Ter) c.97A>T (p.Arg33Ter) c.196-5291A>T (n.196-5291A>T) c.220A>T (p.Arg74Ter) c.712A>T (p.Arg238Ter) c.196A>T (p.Arg66Ter) n.333A>T c.862A>T (p.Arg288Ter) c.859A>T (p.Arg287Ter) c.724A>T (p.Arg242Ter)
17	g.77482192G>A	CA401207765	SEPTIN9	c.716G>A (p.Arg239Lys) c.770G>A (p.Arg257Lys) c.278G>A (p.Arg93Lys) n.74G>A n.819G>A c.17G>A (p.Arg6Lys) c.749G>A (p.Arg250Lys) c.434G>A (p.Arg145Lys) c.98G>A (p.Arg33Lys) c.196-5290G>A (n.196-5290G>A) c.221G>A (p.Arg74Lys) c.713G>A (p.Arg238Lys) c.197G>A (p.Arg66Lys) n.334G>A c.863G>A (p.Arg288Lys) c.860G>A (p.Arg287Lys) c.725G>A (p.Arg242Lys)
17	g.77482192G>C	CA401207766	SEPTIN9	c.716G>C (p.Arg239Thr) c.770G>C (p.Arg257Thr) c.278G>C (p.Arg93Thr) n.74G>C n.819G>C c.17G>C (p.Arg6Thr) c.749G>C (p.Arg250Thr) c.434G>C (p.Arg145Thr) c.98G>C (p.Arg33Thr) c.196-5290G>C (n.196-5290G>C) c.221G>C (p.Arg74Thr) c.713G>C (p.Arg238Thr) c.197G>C (p.Arg66Thr) n.334G>C c.863G>C (p.Arg288Thr) c.860G>C (p.Arg287Thr) c.725G>C (p.Arg242Thr)
17	g.77482192G>T	CA401207767	SEPTIN9	c.716G>T (p.Arg239Ile) c.770G>T (p.Arg257Ile) c.278G>T (p.Arg93Ile) n.74G>T n.819G>T c.17G>T (p.Arg6Ile) c.749G>T (p.Arg250Ile) c.434G>T (p.Arg145Ile) c.98G>T (p.Arg33Ile) c.196-5290G>T (n.196-5290G>T) c.221G>T (p.Arg74Ile) c.713G>T (p.Arg238Ile) c.197G>T (p.Arg66Ile) n.334G>T c.863G>T (p.Arg288Ile) c.860G>T (p.Arg287Ile) c.725G>T (p.Arg242Ile)	gnomAD v4
17	g.77482193A>C	CA401207768	SEPTIN9	c.717A>C (p.Arg239Ser) c.771A>C (p.Arg257Ser) c.279A>C (p.Arg93Ser) n.75A>C n.820A>C c.18A>C (p.Arg6Ser) c.750A>C (p.Arg250Ser) c.435A>C (p.Arg145Ser) c.99A>C (p.Arg33Ser) c.196-5289A>C (n.196-5289A>C) c.222A>C (p.Arg74Ser) c.714A>C (p.Arg238Ser) c.198A>C (p.Arg66Ser) n.335A>C c.864A>C (p.Arg288Ser) c.861A>C (p.Arg287Ser) c.726A>C (p.Arg242Ser)
17	g.77482193A>G	CA501952051	SEPTIN9	c.717A>G (p.Arg239=) c.771A>G (p.Arg257=) c.279A>G (p.Arg93=) n.75A>G n.820A>G c.18A>G (p.Arg6=) c.750A>G (p.Arg250=) c.435A>G (p.Arg145=) c.99A>G (p.Arg33=) c.196-5289A>G (n.196-5289A>G) c.222A>G (p.Arg74=) c.714A>G (p.Arg238=) c.198A>G (p.Arg66=) n.335A>G c.864A>G (p.Arg288=) c.861A>G (p.Arg287=) c.726A>G (p.Arg242=)
17	g.77482193A>T	CA401207769	SEPTIN9	c.717A>T (p.Arg239Ser) c.771A>T (p.Arg257Ser) c.279A>T (p.Arg93Ser) n.75A>T n.820A>T c.18A>T (p.Arg6Ser) c.750A>T (p.Arg250Ser) c.435A>T (p.Arg145Ser) c.99A>T (p.Arg33Ser) c.196-5289A>T (n.196-5289A>T) c.222A>T (p.Arg74Ser) c.714A>T (p.Arg238Ser) c.198A>T (p.Arg66Ser) n.335A>T c.864A>T (p.Arg288Ser) c.861A>T (p.Arg287Ser) c.726A>T (p.Arg242Ser)
17	g.77482194G>A	CA401207771	SEPTIN9	c.718G>A (p.Asp240Asn) c.772G>A (p.Asp258Asn) c.280G>A (p.Asp94Asn) n.76G>A n.821G>A c.19G>A (p.Asp7Asn) c.751G>A (p.Asp251Asn) c.436G>A (p.Asp146Asn) c.100G>A (p.Asp34Asn) c.196-5288G>A (n.196-5288G>A) c.223G>A (p.Asp75Asn) c.715G>A (p.Asp239Asn) c.199G>A (p.Asp67Asn) n.336G>A c.865G>A (p.Asp289Asn) c.862G>A (p.Asp288Asn) c.727G>A (p.Asp243Asn)	dbSNP gnomAD v4
17	g.77482194G>C	CA401207772	SEPTIN9	c.718G>C (p.Asp240His) c.772G>C (p.Asp258His) c.280G>C (p.Asp94His) n.76G>C n.821G>C c.19G>C (p.Asp7His) c.751G>C (p.Asp251His) c.436G>C (p.Asp146His) c.100G>C (p.Asp34His) c.196-5288G>C (n.196-5288G>C) c.223G>C (p.Asp75His) c.715G>C (p.Asp239His) c.199G>C (p.Asp67His) n.336G>C c.865G>C (p.Asp289His) c.862G>C (p.Asp288His) c.727G>C (p.Asp243His)
17	g.77482194G>T	CA401207770	SEPTIN9	c.718G>T (p.Asp240Tyr) c.772G>T (p.Asp258Tyr) c.280G>T (p.Asp94Tyr) n.76G>T n.821G>T c.19G>T (p.Asp7Tyr) c.751G>T (p.Asp251Tyr) c.436G>T (p.Asp146Tyr) c.100G>T (p.Asp34Tyr) c.196-5288G>T (n.196-5288G>T) c.223G>T (p.Asp75Tyr) c.715G>T (p.Asp239Tyr) c.199G>T (p.Asp67Tyr) n.336G>T c.865G>T (p.Asp289Tyr) c.862G>T (p.Asp288Tyr) c.727G>T (p.Asp243Tyr)
17	g.77482195A>C	CA401207773	SEPTIN9	c.719A>C (p.Asp240Ala) c.773A>C (p.Asp258Ala) c.281A>C (p.Asp94Ala) n.77A>C n.822A>C c.20A>C (p.Asp7Ala) c.752A>C (p.Asp251Ala) c.437A>C (p.Asp146Ala) c.101A>C (p.Asp34Ala) c.196-5287A>C (n.196-5287A>C) c.224A>C (p.Asp75Ala) c.716A>C (p.Asp239Ala) c.200A>C (p.Asp67Ala) n.337A>C c.866A>C (p.Asp289Ala) c.863A>C (p.Asp288Ala) c.728A>C (p.Asp243Ala)
17	g.77482195A>G	CA401207774	SEPTIN9	c.719A>G (p.Asp240Gly) c.773A>G (p.Asp258Gly) c.281A>G (p.Asp94Gly) n.77A>G n.822A>G c.20A>G (p.Asp7Gly) c.752A>G (p.Asp251Gly) c.437A>G (p.Asp146Gly) c.101A>G (p.Asp34Gly) c.196-5287A>G (n.196-5287A>G) c.224A>G (p.Asp75Gly) c.716A>G (p.Asp239Gly) c.200A>G (p.Asp67Gly) n.337A>G c.866A>G (p.Asp289Gly) c.863A>G (p.Asp288Gly) c.728A>G (p.Asp243Gly)
17	g.77482195A>T	CA401207775	SEPTIN9	c.719A>T (p.Asp240Val) c.773A>T (p.Asp258Val) c.281A>T (p.Asp94Val) n.77A>T n.822A>T c.20A>T (p.Asp7Val) c.752A>T (p.Asp251Val) c.437A>T (p.Asp146Val) c.101A>T (p.Asp34Val) c.196-5287A>T (n.196-5287A>T) c.224A>T (p.Asp75Val) c.716A>T (p.Asp239Val) c.200A>T (p.Asp67Val) n.337A>T c.866A>T (p.Asp289Val) c.863A>T (p.Asp288Val) c.728A>T (p.Asp243Val)
17	g.77482196T>A	CA401207776	SEPTIN9	c.720T>A (p.Asp240Glu) c.774T>A (p.Asp258Glu) c.282T>A (p.Asp94Glu) n.78T>A n.823T>A c.21T>A (p.Asp7Glu) c.753T>A (p.Asp251Glu) c.438T>A (p.Asp146Glu) c.102T>A (p.Asp34Glu) c.196-5286T>A (n.196-5286T>A) c.225T>A (p.Asp75Glu) c.717T>A (p.Asp239Glu) c.201T>A (p.Asp67Glu) n.338T>A c.867T>A (p.Asp289Glu) c.864T>A (p.Asp288Glu) c.729T>A (p.Asp243Glu)
17	g.77482196T>C	CA501952053	SEPTIN9	c.720T>C (p.Asp240=) c.774T>C (p.Asp258=) c.282T>C (p.Asp94=) n.78T>C n.823T>C c.21T>C (p.Asp7=) c.753T>C (p.Asp251=) c.438T>C (p.Asp146=) c.102T>C (p.Asp34=) c.196-5286T>C (n.196-5286T>C) c.225T>C (p.Asp75=) c.717T>C (p.Asp239=) c.201T>C (p.Asp67=) n.338T>C c.867T>C (p.Asp289=) c.864T>C (p.Asp288=) c.729T>C (p.Asp243=)	dbSNP
17	g.77482196T>G	CA401207777	SEPTIN9	c.720T>G (p.Asp240Glu) c.774T>G (p.Asp258Glu) c.282T>G (p.Asp94Glu) n.78T>G n.823T>G c.21T>G (p.Asp7Glu) c.753T>G (p.Asp251Glu) c.438T>G (p.Asp146Glu) c.102T>G (p.Asp34Glu) c.196-5286T>G (n.196-5286T>G) c.225T>G (p.Asp75Glu) c.717T>G (p.Asp239Glu) c.201T>G (p.Asp67Glu) n.338T>G c.867T>G (p.Asp289Glu) c.864T>G (p.Asp288Glu) c.729T>G (p.Asp243Glu)
17	g.77482196T=	CA2276500406	SEPTIN9	c.720T= (p.Asp240=) c.774T= (p.Asp258=) c.282T= (p.Asp94=) n.78T= n.823T= c.21T= (p.Asp7=) c.753T= (p.Asp251=) c.438T= (p.Asp146=) c.102T= (p.Asp34=) c.196-5286T= (n.196-5286T=) c.225T= (p.Asp75=) c.717T= (p.Asp239=) c.201T= (p.Asp67=) n.338T= c.867T= (p.Asp289=) c.864T= (p.Asp288=) c.729T= (p.Asp243=)
17	g.77482197G>A	CA8793522	SEPTIN9	c.721G>A (p.Ala241Thr) c.775G>A (p.Ala259Thr) c.283G>A (p.Ala95Thr) n.79G>A n.824G>A c.22G>A (p.Ala8Thr) c.754G>A (p.Ala252Thr) c.439G>A (p.Ala147Thr) c.103G>A (p.Ala35Thr) c.196-5285G>A (n.196-5285G>A) c.226G>A (p.Ala76Thr) c.718G>A (p.Ala240Thr) c.202G>A (p.Ala68Thr) n.339G>A c.868G>A (p.Ala290Thr) c.865G>A (p.Ala289Thr) c.730G>A (p.Ala244Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482197G>C	CA401207778	SEPTIN9	c.721G>C (p.Ala241Pro) c.775G>C (p.Ala259Pro) c.283G>C (p.Ala95Pro) n.79G>C n.824G>C c.22G>C (p.Ala8Pro) c.754G>C (p.Ala252Pro) c.439G>C (p.Ala147Pro) c.103G>C (p.Ala35Pro) c.196-5285G>C (n.196-5285G>C) c.226G>C (p.Ala76Pro) c.718G>C (p.Ala240Pro) c.202G>C (p.Ala68Pro) n.339G>C c.868G>C (p.Ala290Pro) c.865G>C (p.Ala289Pro) c.730G>C (p.Ala244Pro)
17	g.77482197G=	CA2276500407	SEPTIN9	c.721G= (p.Ala241=) c.775G= (p.Ala259=) c.283G= (p.Ala95=) n.79G= n.824G= c.22G= (p.Ala8=) c.754G= (p.Ala252=) c.439G= (p.Ala147=) c.103G= (p.Ala35=) c.196-5285G= (n.196-5285G=) c.226G= (p.Ala76=) c.718G= (p.Ala240=) c.202G= (p.Ala68=) n.339G= c.868G= (p.Ala290=) c.865G= (p.Ala289=) c.730G= (p.Ala244=)
17	g.77482197G>T	CA401207779	SEPTIN9	c.721G>T (p.Ala241Ser) c.775G>T (p.Ala259Ser) c.283G>T (p.Ala95Ser) n.79G>T n.824G>T c.22G>T (p.Ala8Ser) c.754G>T (p.Ala252Ser) c.439G>T (p.Ala147Ser) c.103G>T (p.Ala35Ser) c.196-5285G>T (n.196-5285G>T) c.226G>T (p.Ala76Ser) c.718G>T (p.Ala240Ser) c.202G>T (p.Ala68Ser) n.339G>T c.868G>T (p.Ala290Ser) c.865G>T (p.Ala289Ser) c.730G>T (p.Ala244Ser)
17	g.77482198C>A	CA401207780	SEPTIN9	c.722C>A (p.Ala241Asp) c.776C>A (p.Ala259Asp) c.284C>A (p.Ala95Asp) n.80C>A n.825C>A c.23C>A (p.Ala8Asp) c.755C>A (p.Ala252Asp) c.440C>A (p.Ala147Asp) c.104C>A (p.Ala35Asp) c.196-5284C>A (n.196-5284C>A) c.227C>A (p.Ala76Asp) c.719C>A (p.Ala240Asp) c.203C>A (p.Ala68Asp) n.340C>A c.869C>A (p.Ala290Asp) c.866C>A (p.Ala289Asp) c.731C>A (p.Ala244Asp)	dbSNP
17	g.77482198C=	CA2276500408	SEPTIN9	c.722C= (p.Ala241=) c.776C= (p.Ala259=) c.284C= (p.Ala95=) n.80C= n.825C= c.23C= (p.Ala8=) c.755C= (p.Ala252=) c.440C= (p.Ala147=) c.104C= (p.Ala35=) c.196-5284C= (n.196-5284C=) c.227C= (p.Ala76=) c.719C= (p.Ala240=) c.203C= (p.Ala68=) n.340C= c.869C= (p.Ala290=) c.866C= (p.Ala289=) c.731C= (p.Ala244=)
17	g.77482198C>G	CA401207781	SEPTIN9	c.722C>G (p.Ala241Gly) c.776C>G (p.Ala259Gly) c.284C>G (p.Ala95Gly) n.80C>G n.825C>G c.23C>G (p.Ala8Gly) c.755C>G (p.Ala252Gly) c.440C>G (p.Ala147Gly) c.104C>G (p.Ala35Gly) c.196-5284C>G (n.196-5284C>G) c.227C>G (p.Ala76Gly) c.719C>G (p.Ala240Gly) c.203C>G (p.Ala68Gly) n.340C>G c.869C>G (p.Ala290Gly) c.866C>G (p.Ala289Gly) c.731C>G (p.Ala244Gly)	gnomAD v4
17	g.77482198C>T	CA401207782	SEPTIN9	c.722C>T (p.Ala241Val) c.776C>T (p.Ala259Val) c.284C>T (p.Ala95Val) n.80C>T n.825C>T c.23C>T (p.Ala8Val) c.755C>T (p.Ala252Val) c.440C>T (p.Ala147Val) c.104C>T (p.Ala35Val) c.196-5284C>T (n.196-5284C>T) c.227C>T (p.Ala76Val) c.719C>T (p.Ala240Val) c.203C>T (p.Ala68Val) n.340C>T c.869C>T (p.Ala290Val) c.866C>T (p.Ala289Val) c.731C>T (p.Ala244Val)
17	g.77482199C>A	CA501952054	SEPTIN9	c.723C>A (p.Ala241=) c.777C>A (p.Ala259=) c.285C>A (p.Ala95=) n.81C>A n.826C>A c.24C>A (p.Ala8=) c.756C>A (p.Ala252=) c.441C>A (p.Ala147=) c.105C>A (p.Ala35=) c.196-5283C>A (n.196-5283C>A) c.228C>A (p.Ala76=) c.720C>A (p.Ala240=) c.204C>A (p.Ala68=) n.341C>A c.870C>A (p.Ala290=) c.867C>A (p.Ala289=) c.732C>A (p.Ala244=)
17	g.77482199C=	CA2276500409	SEPTIN9	c.723C= (p.Ala241=) c.777C= (p.Ala259=) c.285C= (p.Ala95=) n.81C= n.826C= c.24C= (p.Ala8=) c.756C= (p.Ala252=) c.441C= (p.Ala147=) c.105C= (p.Ala35=) c.196-5283C= (n.196-5283C=) c.228C= (p.Ala76=) c.720C= (p.Ala240=) c.204C= (p.Ala68=) n.341C= c.870C= (p.Ala290=) c.867C= (p.Ala289=) c.732C= (p.Ala244=)
17	g.77482199C>G	CA501952055	SEPTIN9	c.723C>G (p.Ala241=) c.777C>G (p.Ala259=) c.285C>G (p.Ala95=) n.81C>G n.826C>G c.24C>G (p.Ala8=) c.756C>G (p.Ala252=) c.441C>G (p.Ala147=) c.105C>G (p.Ala35=) c.196-5283C>G (n.196-5283C>G) c.228C>G (p.Ala76=) c.720C>G (p.Ala240=) c.204C>G (p.Ala68=) n.341C>G c.870C>G (p.Ala290=) c.867C>G (p.Ala289=) c.732C>G (p.Ala244=)
17	g.77482199C>T	CA8793523	SEPTIN9	c.723C>T (p.Ala241=) c.777C>T (p.Ala259=) c.285C>T (p.Ala95=) n.81C>T n.826C>T c.24C>T (p.Ala8=) c.756C>T (p.Ala252=) c.441C>T (p.Ala147=) c.105C>T (p.Ala35=) c.196-5283C>T (n.196-5283C>T) c.228C>T (p.Ala76=) c.720C>T (p.Ala240=) c.204C>T (p.Ala68=) n.341C>T c.870C>T (p.Ala290=) c.867C>T (p.Ala289=) c.732C>T (p.Ala244=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.77482200G>A	CA8793524	SEPTIN9	c.724G>A (p.Gly242Arg) c.778G>A (p.Gly260Arg) c.286G>A (p.Gly96Arg) n.82G>A n.827G>A c.25G>A (p.Gly9Arg) c.757G>A (p.Gly253Arg) c.442G>A (p.Gly148Arg) c.106G>A (p.Gly36Arg) c.196-5282G>A (n.196-5282G>A) c.229G>A (p.Gly77Arg) c.721G>A (p.Gly241Arg) c.205G>A (p.Gly69Arg) n.342G>A c.871G>A (p.Gly291Arg) c.868G>A (p.Gly290Arg) c.733G>A (p.Gly245Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.77482200G>C	CA401207783	SEPTIN9	c.724G>C (p.Gly242Arg) c.778G>C (p.Gly260Arg) c.286G>C (p.Gly96Arg) n.82G>C n.827G>C c.25G>C (p.Gly9Arg) c.757G>C (p.Gly253Arg) c.442G>C (p.Gly148Arg) c.106G>C (p.Gly36Arg) c.196-5282G>C (n.196-5282G>C) c.229G>C (p.Gly77Arg) c.721G>C (p.Gly241Arg) c.205G>C (p.Gly69Arg) n.342G>C c.871G>C (p.Gly291Arg) c.868G>C (p.Gly290Arg) c.733G>C (p.Gly245Arg)
17	g.77482200G=	CA2276500410	SEPTIN9	c.724G= (p.Gly242=) c.778G= (p.Gly260=) c.286G= (p.Gly96=) n.82G= n.827G= c.25G= (p.Gly9=) c.757G= (p.Gly253=) c.442G= (p.Gly148=) c.106G= (p.Gly36=) c.196-5282G= (n.196-5282G=) c.229G= (p.Gly77=) c.721G= (p.Gly241=) c.205G= (p.Gly69=) n.342G= c.871G= (p.Gly291=) c.868G= (p.Gly290=) c.733G= (p.Gly245=)
17	g.77482200G>T	CA401207784	SEPTIN9	c.724G>T (p.Gly242Trp) c.778G>T (p.Gly260Trp) c.286G>T (p.Gly96Trp) n.82G>T n.827G>T c.25G>T (p.Gly9Trp) c.757G>T (p.Gly253Trp) c.442G>T (p.Gly148Trp) c.106G>T (p.Gly36Trp) c.196-5282G>T (n.196-5282G>T) c.229G>T (p.Gly77Trp) c.721G>T (p.Gly241Trp) c.205G>T (p.Gly69Trp) n.342G>T c.871G>T (p.Gly291Trp) c.868G>T (p.Gly290Trp) c.733G>T (p.Gly245Trp)	gnomAD v4
17	g.77482201G>A	CA401207785	SEPTIN9	c.725G>A (p.Gly242Glu) c.779G>A (p.Gly260Glu) c.287G>A (p.Gly96Glu) n.83G>A n.828G>A c.26G>A (p.Gly9Glu) c.758G>A (p.Gly253Glu) c.443G>A (p.Gly148Glu) c.107G>A (p.Gly36Glu) c.196-5281G>A (n.196-5281G>A) c.230G>A (p.Gly77Glu) c.722G>A (p.Gly241Glu) c.206G>A (p.Gly69Glu) n.343G>A c.872G>A (p.Gly291Glu) c.869G>A (p.Gly290Glu) c.734G>A (p.Gly245Glu)
17	g.77482201G>C	CA401207786	SEPTIN9	c.725G>C (p.Gly242Ala) c.779G>C (p.Gly260Ala) c.287G>C (p.Gly96Ala) n.83G>C n.828G>C c.26G>C (p.Gly9Ala) c.758G>C (p.Gly253Ala) c.443G>C (p.Gly148Ala) c.107G>C (p.Gly36Ala) c.196-5281G>C (n.196-5281G>C) c.230G>C (p.Gly77Ala) c.722G>C (p.Gly241Ala) c.206G>C (p.Gly69Ala) n.343G>C c.872G>C (p.Gly291Ala) c.869G>C (p.Gly290Ala) c.734G>C (p.Gly245Ala)
17	g.77482201G>T	CA401207787	SEPTIN9	c.725G>T (p.Gly242Val) c.779G>T (p.Gly260Val) c.287G>T (p.Gly96Val) n.83G>T n.828G>T c.26G>T (p.Gly9Val) c.758G>T (p.Gly253Val) c.443G>T (p.Gly148Val) c.107G>T (p.Gly36Val) c.196-5281G>T (n.196-5281G>T) c.230G>T (p.Gly77Val) c.722G>T (p.Gly241Val) c.206G>T (p.Gly69Val) n.343G>T c.872G>T (p.Gly291Val) c.869G>T (p.Gly290Val) c.734G>T (p.Gly245Val)
17	g.77482202G>A	CA501952059	SEPTIN9	c.726G>A (p.Gly242=) c.780G>A (p.Gly260=) c.288G>A (p.Gly96=) n.84G>A n.829G>A c.27G>A (p.Gly9=) c.759G>A (p.Gly253=) c.444G>A (p.Gly148=) c.108G>A (p.Gly36=) c.196-5280G>A (n.196-5280G>A) c.231G>A (p.Gly77=) c.723G>A (p.Gly241=) c.207G>A (p.Gly69=) n.344G>A c.873G>A (p.Gly291=) c.870G>A (p.Gly290=) c.735G>A (p.Gly245=)	ClinVar gnomAD v4
17	g.77482202G>C	CA501952058	SEPTIN9	c.726G>C (p.Gly242=) c.780G>C (p.Gly260=) c.288G>C (p.Gly96=) n.84G>C n.829G>C c.27G>C (p.Gly9=) c.759G>C (p.Gly253=) c.444G>C (p.Gly148=) c.108G>C (p.Gly36=) c.196-5280G>C (n.196-5280G>C) c.231G>C (p.Gly77=) c.723G>C (p.Gly241=) c.207G>C (p.Gly69=) n.344G>C c.873G>C (p.Gly291=) c.870G>C (p.Gly290=) c.735G>C (p.Gly245=)
17	g.77482202G=	CA2276500411	SEPTIN9	c.726G= (p.Gly242=) c.780G= (p.Gly260=) c.288G= (p.Gly96=) n.84G= n.829G= c.27G= (p.Gly9=) c.759G= (p.Gly253=) c.444G= (p.Gly148=) c.108G= (p.Gly36=) c.196-5280G= (n.196-5280G=) c.231G= (p.Gly77=) c.723G= (p.Gly241=) c.207G= (p.Gly69=) n.344G= c.873G= (p.Gly291=) c.870G= (p.Gly290=) c.735G= (p.Gly245=)
17	g.77482202G>T	CA501952056	SEPTIN9	c.726G>T (p.Gly242=) c.780G>T (p.Gly260=) c.288G>T (p.Gly96=) n.84G>T n.829G>T c.27G>T (p.Gly9=) c.759G>T (p.Gly253=) c.444G>T (p.Gly148=) c.108G>T (p.Gly36=) c.196-5280G>T (n.196-5280G>T) c.231G>T (p.Gly77=) c.723G>T (p.Gly241=) c.207G>T (p.Gly69=) n.344G>T c.873G>T (p.Gly291=) c.870G>T (p.Gly290=) c.735G>T (p.Gly245=)	dbSNP gnomAD v3 gnomAD v4
17	g.77482203C>A	CA401207788	SEPTIN9	c.727C>A (p.Leu243Ile) c.781C>A (p.Leu261Ile) c.289C>A (p.Leu97Ile) n.85C>A n.830C>A c.28C>A (p.Leu10Ile) c.760C>A (p.Leu254Ile) c.445C>A (p.Leu149Ile) c.109C>A (p.Leu37Ile) c.196-5279C>A (n.196-5279C>A) c.232C>A (p.Leu78Ile) c.724C>A (p.Leu242Ile) c.208C>A (p.Leu70Ile) n.345C>A c.874C>A (p.Leu292Ile) c.871C>A (p.Leu291Ile) c.736C>A (p.Leu246Ile)
17	g.77482203C>G	CA401207789	SEPTIN9	c.727C>G (p.Leu243Val) c.781C>G (p.Leu261Val) c.289C>G (p.Leu97Val) n.85C>G n.830C>G c.28C>G (p.Leu10Val) c.760C>G (p.Leu254Val) c.445C>G (p.Leu149Val) c.109C>G (p.Leu37Val) c.196-5279C>G (n.196-5279C>G) c.232C>G (p.Leu78Val) c.724C>G (p.Leu242Val) c.208C>G (p.Leu70Val) n.345C>G c.874C>G (p.Leu292Val) c.871C>G (p.Leu291Val) c.736C>G (p.Leu246Val)
17	g.77482203C>T	CA401207790	SEPTIN9	c.727C>T (p.Leu243Phe) c.781C>T (p.Leu261Phe) c.289C>T (p.Leu97Phe) n.85C>T n.830C>T c.28C>T (p.Leu10Phe) c.760C>T (p.Leu254Phe) c.445C>T (p.Leu149Phe) c.109C>T (p.Leu37Phe) c.196-5279C>T (n.196-5279C>T) c.232C>T (p.Leu78Phe) c.724C>T (p.Leu242Phe) c.208C>T (p.Leu70Phe) n.345C>T c.874C>T (p.Leu292Phe) c.871C>T (p.Leu291Phe) c.736C>T (p.Leu246Phe)
17	g.77482204T>A	CA401207791	SEPTIN9	c.728T>A (p.Leu243His) c.782T>A (p.Leu261His) c.290T>A (p.Leu97His) n.86T>A n.831T>A c.29T>A (p.Leu10His) c.761T>A (p.Leu254His) c.446T>A (p.Leu149His) c.110T>A (p.Leu37His) c.196-5278T>A (n.196-5278T>A) c.233T>A (p.Leu78His) c.725T>A (p.Leu242His) c.209T>A (p.Leu70His) n.346T>A c.875T>A (p.Leu292His) c.872T>A (p.Leu291His) c.737T>A (p.Leu246His)
17	g.77482204T>C	CA401207792	SEPTIN9	c.728T>C (p.Leu243Pro) c.782T>C (p.Leu261Pro) c.290T>C (p.Leu97Pro) n.86T>C n.831T>C c.29T>C (p.Leu10Pro) c.761T>C (p.Leu254Pro) c.446T>C (p.Leu149Pro) c.110T>C (p.Leu37Pro) c.196-5278T>C (n.196-5278T>C) c.233T>C (p.Leu78Pro) c.725T>C (p.Leu242Pro) c.209T>C (p.Leu70Pro) n.346T>C c.875T>C (p.Leu292Pro) c.872T>C (p.Leu291Pro) c.737T>C (p.Leu246Pro)
17	g.77482204T>G	CA401207793	SEPTIN9	c.728T>G (p.Leu243Arg) c.782T>G (p.Leu261Arg) c.290T>G (p.Leu97Arg) n.86T>G n.831T>G c.29T>G (p.Leu10Arg) c.761T>G (p.Leu254Arg) c.446T>G (p.Leu149Arg) c.110T>G (p.Leu37Arg) c.196-5278T>G (n.196-5278T>G) c.233T>G (p.Leu78Arg) c.725T>G (p.Leu242Arg) c.209T>G (p.Leu70Arg) n.346T>G c.875T>G (p.Leu292Arg) c.872T>G (p.Leu291Arg) c.737T>G (p.Leu246Arg)
17	g.77482205C>A	CA501952062	SEPTIN9	c.729C>A (p.Leu243=) c.783C>A (p.Leu261=) c.291C>A (p.Leu97=) n.87C>A n.832C>A c.30C>A (p.Leu10=) c.762C>A (p.Leu254=) c.447C>A (p.Leu149=) c.111C>A (p.Leu37=) c.196-5277C>A (n.196-5277C>A) c.234C>A (p.Leu78=) c.726C>A (p.Leu242=) c.210C>A (p.Leu70=) n.347C>A c.876C>A (p.Leu292=) c.873C>A (p.Leu291=) c.738C>A (p.Leu246=)
17	g.77482205C=	CA2276500412	SEPTIN9	c.729C= (p.Leu243=) c.783C= (p.Leu261=) c.291C= (p.Leu97=) n.87C= n.832C= c.30C= (p.Leu10=) c.762C= (p.Leu254=) c.447C= (p.Leu149=) c.111C= (p.Leu37=) c.196-5277C= (n.196-5277C=) c.234C= (p.Leu78=) c.726C= (p.Leu242=) c.210C= (p.Leu70=) n.347C= c.876C= (p.Leu292=) c.873C= (p.Leu291=) c.738C= (p.Leu246=)
17	g.77482205C>G	CA501952063	SEPTIN9	c.729C>G (p.Leu243=) c.783C>G (p.Leu261=) c.291C>G (p.Leu97=) n.87C>G n.832C>G c.30C>G (p.Leu10=) c.762C>G (p.Leu254=) c.447C>G (p.Leu149=) c.111C>G (p.Leu37=) c.196-5277C>G (n.196-5277C>G) c.234C>G (p.Leu78=) c.726C>G (p.Leu242=) c.210C>G (p.Leu70=) n.347C>G c.876C>G (p.Leu292=) c.873C>G (p.Leu291=) c.738C>G (p.Leu246=)
17	g.77482205C>T	CA501952064	SEPTIN9	c.729C>T (p.Leu243=) c.783C>T (p.Leu261=) c.291C>T (p.Leu97=) n.87C>T n.832C>T c.30C>T (p.Leu10=) c.762C>T (p.Leu254=) c.447C>T (p.Leu149=) c.111C>T (p.Leu37=) c.196-5277C>T (n.196-5277C>T) c.234C>T (p.Leu78=) c.726C>T (p.Leu242=) c.210C>T (p.Leu70=) n.347C>T c.876C>T (p.Leu292=) c.873C>T (p.Leu291=) c.738C>T (p.Leu246=)	dbSNP gnomAD v4
17	g.77482206A>C	CA401207794	SEPTIN9	c.730A>C (p.Lys244Gln) c.784A>C (p.Lys262Gln) c.292A>C (p.Lys98Gln) n.88A>C n.833A>C c.31A>C (p.Lys11Gln) c.763A>C (p.Lys255Gln) c.448A>C (p.Lys150Gln) c.112A>C (p.Lys38Gln) c.196-5276A>C (n.196-5276A>C) c.235A>C (p.Lys79Gln) c.727A>C (p.Lys243Gln) c.211A>C (p.Lys71Gln) n.348A>C c.877A>C (p.Lys293Gln) c.874A>C (p.Lys292Gln) c.739A>C (p.Lys247Gln)
17	g.77482206A>G	CA401207795	SEPTIN9	c.730A>G (p.Lys244Glu) c.784A>G (p.Lys262Glu) c.292A>G (p.Lys98Glu) n.88A>G n.833A>G c.31A>G (p.Lys11Glu) c.763A>G (p.Lys255Glu) c.448A>G (p.Lys150Glu) c.112A>G (p.Lys38Glu) c.196-5276A>G (n.196-5276A>G) c.235A>G (p.Lys79Glu) c.727A>G (p.Lys243Glu) c.211A>G (p.Lys71Glu) n.348A>G c.877A>G (p.Lys293Glu) c.874A>G (p.Lys292Glu) c.739A>G (p.Lys247Glu)	gnomAD v4
17	g.77482206A>T	CA401207796	SEPTIN9	c.730A>T (p.Lys244Ter) c.784A>T (p.Lys262Ter) c.292A>T (p.Lys98Ter) n.88A>T n.833A>T c.31A>T (p.Lys11Ter) c.763A>T (p.Lys255Ter) c.448A>T (p.Lys150Ter) c.112A>T (p.Lys38Ter) c.196-5276A>T (n.196-5276A>T) c.235A>T (p.Lys79Ter) c.727A>T (p.Lys243Ter) c.211A>T (p.Lys71Ter) n.348A>T c.877A>T (p.Lys293Ter) c.874A>T (p.Lys292Ter) c.739A>T (p.Lys247Ter)
17	g.77482207A=	CA2276500413	SEPTIN9	c.731A= (p.Lys244=) c.785A= (p.Lys262=) c.293A= (p.Lys98=) n.89A= n.834A= c.32A= (p.Lys11=) c.764A= (p.Lys255=) c.449A= (p.Lys150=) c.113A= (p.Lys38=) c.196-5275A= (n.196-5275A=) c.236A= (p.Lys79=) c.728A= (p.Lys243=) c.212A= (p.Lys71=) n.349A= c.878A= (p.Lys293=) c.875A= (p.Lys292=) c.740A= (p.Lys247=)
17	g.77482207A>C	CA401207798	SEPTIN9	c.731A>C (p.Lys244Thr) c.785A>C (p.Lys262Thr) c.293A>C (p.Lys98Thr) n.89A>C n.834A>C c.32A>C (p.Lys11Thr) c.764A>C (p.Lys255Thr) c.449A>C (p.Lys150Thr) c.113A>C (p.Lys38Thr) c.196-5275A>C (n.196-5275A>C) c.236A>C (p.Lys79Thr) c.728A>C (p.Lys243Thr) c.212A>C (p.Lys71Thr) n.349A>C c.878A>C (p.Lys293Thr) c.875A>C (p.Lys292Thr) c.740A>C (p.Lys247Thr)
17	g.77482207A>G	CA401207799	SEPTIN9	c.731A>G (p.Lys244Arg) c.785A>G (p.Lys262Arg) c.293A>G (p.Lys98Arg) n.89A>G n.834A>G c.32A>G (p.Lys11Arg) c.764A>G (p.Lys255Arg) c.449A>G (p.Lys150Arg) c.113A>G (p.Lys38Arg) c.196-5275A>G (n.196-5275A>G) c.236A>G (p.Lys79Arg) c.728A>G (p.Lys243Arg) c.212A>G (p.Lys71Arg) n.349A>G c.878A>G (p.Lys293Arg) c.875A>G (p.Lys292Arg) c.740A>G (p.Lys247Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.77482207A>T	CA401207797	SEPTIN9	c.731A>T (p.Lys244Met) c.785A>T (p.Lys262Met) c.293A>T (p.Lys98Met) n.89A>T n.834A>T c.32A>T (p.Lys11Met) c.764A>T (p.Lys255Met) c.449A>T (p.Lys150Met) c.113A>T (p.Lys38Met) c.196-5275A>T (n.196-5275A>T) c.236A>T (p.Lys79Met) c.728A>T (p.Lys243Met) c.212A>T (p.Lys71Met) n.349A>T c.878A>T (p.Lys293Met) c.875A>T (p.Lys292Met) c.740A>T (p.Lys247Met)
17	g.77482208G>A	CA501952065	SEPTIN9	c.732G>A (p.Lys244=) c.786G>A (p.Lys262=) c.294G>A (p.Lys98=) n.90G>A n.835G>A c.33G>A (p.Lys11=) c.765G>A (p.Lys255=) c.450G>A (p.Lys150=) c.114G>A (p.Lys38=) c.196-5274G>A (n.196-5274G>A) c.237G>A (p.Lys79=) c.729G>A (p.Lys243=) c.213G>A (p.Lys71=) n.350G>A c.879G>A (p.Lys293=) c.876G>A (p.Lys292=) c.741G>A (p.Lys247=)	gnomAD v4
17	g.77482208G>C	CA401207800	SEPTIN9	c.732G>C (p.Lys244Asn) c.786G>C (p.Lys262Asn) c.294G>C (p.Lys98Asn) n.90G>C n.835G>C c.33G>C (p.Lys11Asn) c.765G>C (p.Lys255Asn) c.450G>C (p.Lys150Asn) c.114G>C (p.Lys38Asn) c.196-5274G>C (n.196-5274G>C) c.237G>C (p.Lys79Asn) c.729G>C (p.Lys243Asn) c.213G>C (p.Lys71Asn) n.350G>C c.879G>C (p.Lys293Asn) c.876G>C (p.Lys292Asn) c.741G>C (p.Lys247Asn)
17	g.77482208G>T	CA401207801	SEPTIN9	c.732G>T (p.Lys244Asn) c.786G>T (p.Lys262Asn) c.294G>T (p.Lys98Asn) n.90G>T n.835G>T c.33G>T (p.Lys11Asn) c.765G>T (p.Lys255Asn) c.450G>T (p.Lys150Asn) c.114G>T (p.Lys38Asn) c.196-5274G>T (n.196-5274G>T) c.237G>T (p.Lys79Asn) c.729G>T (p.Lys243Asn) c.213G>T (p.Lys71Asn) n.350G>T c.879G>T (p.Lys293Asn) c.876G>T (p.Lys292Asn) c.741G>T (p.Lys247Asn)
17	g.77482209C>A	CA401207802	SEPTIN9	c.733C>A (p.Gln245Lys) c.787C>A (p.Gln263Lys) c.295C>A (p.Gln99Lys) n.91C>A n.836C>A c.34C>A (p.Gln12Lys) c.766C>A (p.Gln256Lys) c.451C>A (p.Gln151Lys) c.115C>A (p.Gln39Lys) c.196-5273C>A (n.196-5273C>A) c.238C>A (p.Gln80Lys) c.730C>A (p.Gln244Lys) c.214C>A (p.Gln72Lys) n.351C>A c.880C>A (p.Gln294Lys) c.877C>A (p.Gln293Lys) c.742C>A (p.Gln248Lys)
17	g.77482209C>G	CA401207803	SEPTIN9	c.733C>G (p.Gln245Glu) c.787C>G (p.Gln263Glu) c.295C>G (p.Gln99Glu) n.91C>G n.836C>G c.34C>G (p.Gln12Glu) c.766C>G (p.Gln256Glu) c.451C>G (p.Gln151Glu) c.115C>G (p.Gln39Glu) c.196-5273C>G (n.196-5273C>G) c.238C>G (p.Gln80Glu) c.730C>G (p.Gln244Glu) c.214C>G (p.Gln72Glu) n.351C>G c.880C>G (p.Gln294Glu) c.877C>G (p.Gln293Glu) c.742C>G (p.Gln248Glu)
17	g.77482209C>T	CA401207804	SEPTIN9	c.733C>T (p.Gln245Ter) c.787C>T (p.Gln263Ter) c.295C>T (p.Gln99Ter) n.91C>T n.836C>T c.34C>T (p.Gln12Ter) c.766C>T (p.Gln256Ter) c.451C>T (p.Gln151Ter) c.115C>T (p.Gln39Ter) c.196-5273C>T (n.196-5273C>T) c.238C>T (p.Gln80Ter) c.730C>T (p.Gln244Ter) c.214C>T (p.Gln72Ter) n.351C>T c.880C>T (p.Gln294Ter) c.877C>T (p.Gln293Ter) c.742C>T (p.Gln248Ter)
17	g.77482210A>C	CA401207807	SEPTIN9	c.734A>C (p.Gln245Pro) c.788A>C (p.Gln263Pro) c.296A>C (p.Gln99Pro) n.92A>C n.837A>C c.35A>C (p.Gln12Pro) c.767A>C (p.Gln256Pro) c.452A>C (p.Gln151Pro) c.116A>C (p.Gln39Pro) c.196-5272A>C (n.196-5272A>C) c.239A>C (p.Gln80Pro) c.731A>C (p.Gln244Pro) c.215A>C (p.Gln72Pro) n.352A>C c.881A>C (p.Gln294Pro) c.878A>C (p.Gln293Pro) c.743A>C (p.Gln248Pro)
17	g.77482210A>G	CA401207805	SEPTIN9	c.734A>G (p.Gln245Arg) c.788A>G (p.Gln263Arg) c.296A>G (p.Gln99Arg) n.92A>G n.837A>G c.35A>G (p.Gln12Arg) c.767A>G (p.Gln256Arg) c.452A>G (p.Gln151Arg) c.116A>G (p.Gln39Arg) c.196-5272A>G (n.196-5272A>G) c.239A>G (p.Gln80Arg) c.731A>G (p.Gln244Arg) c.215A>G (p.Gln72Arg) n.352A>G c.881A>G (p.Gln294Arg) c.878A>G (p.Gln293Arg) c.743A>G (p.Gln248Arg)
17	g.77482210A>T	CA401207806	SEPTIN9	c.734A>T (p.Gln245Leu) c.788A>T (p.Gln263Leu) c.296A>T (p.Gln99Leu) n.92A>T n.837A>T c.35A>T (p.Gln12Leu) c.767A>T (p.Gln256Leu) c.452A>T (p.Gln151Leu) c.116A>T (p.Gln39Leu) c.196-5272A>T (n.196-5272A>T) c.239A>T (p.Gln80Leu) c.731A>T (p.Gln244Leu) c.215A>T (p.Gln72Leu) n.352A>T c.881A>T (p.Gln294Leu) c.878A>T (p.Gln293Leu) c.743A>T (p.Gln248Leu)
17	g.77482211G>A	CA501952069	SEPTIN9	c.735G>A (p.Gln245=) c.789G>A (p.Gln263=) c.297G>A (p.Gln99=) n.93G>A n.838G>A c.36G>A (p.Gln12=) c.768G>A (p.Gln256=) c.453G>A (p.Gln151=) c.117G>A (p.Gln39=) c.196-5271G>A (n.196-5271G>A) c.240G>A (p.Gln80=) c.732G>A (p.Gln244=) c.216G>A (p.Gln72=) n.353G>A c.882G>A (p.Gln294=) c.879G>A (p.Gln293=) c.744G>A (p.Gln248=)
17	g.77482211G>C	CA401207808	SEPTIN9	c.735G>C (p.Gln245His) c.789G>C (p.Gln263His) c.297G>C (p.Gln99His) n.93G>C n.838G>C c.36G>C (p.Gln12His) c.768G>C (p.Gln256His) c.453G>C (p.Gln151His) c.117G>C (p.Gln39His) c.196-5271G>C (n.196-5271G>C) c.240G>C (p.Gln80His) c.732G>C (p.Gln244His) c.216G>C (p.Gln72His) n.353G>C c.882G>C (p.Gln294His) c.879G>C (p.Gln293His) c.744G>C (p.Gln248His)
17	g.77482211G=	CA2276500414	SEPTIN9	c.735G= (p.Gln245=) c.789G= (p.Gln263=) c.297G= (p.Gln99=) n.93G= n.838G= c.36G= (p.Gln12=) c.768G= (p.Gln256=) c.453G= (p.Gln151=) c.117G= (p.Gln39=) c.196-5271G= (n.196-5271G=) c.240G= (p.Gln80=) c.732G= (p.Gln244=) c.216G= (p.Gln72=) n.353G= c.882G= (p.Gln294=) c.879G= (p.Gln293=) c.744G= (p.Gln248=)
17	g.77482211G>T	CA401207809	SEPTIN9	c.735G>T (p.Gln245His) c.789G>T (p.Gln263His) c.297G>T (p.Gln99His) n.93G>T n.838G>T c.36G>T (p.Gln12His) c.768G>T (p.Gln256His) c.453G>T (p.Gln151His) c.117G>T (p.Gln39His) c.196-5271G>T (n.196-5271G>T) c.240G>T (p.Gln80His) c.732G>T (p.Gln244His) c.216G>T (p.Gln72His) n.353G>T c.882G>T (p.Gln294His) c.879G>T (p.Gln293His) c.744G>T (p.Gln248His)	dbSNP gnomAD v2
17	g.77482212G>A	CA401207810	SEPTIN9	c.736G>A (p.Ala246Thr) c.790G>A (p.Ala264Thr) c.298G>A (p.Ala100Thr) n.94G>A n.839G>A c.37G>A (p.Ala13Thr) c.769G>A (p.Ala257Thr) c.454G>A (p.Ala152Thr) c.118G>A (p.Ala40Thr) c.196-5270G>A (n.196-5270G>A) c.241G>A (p.Ala81Thr) c.733G>A (p.Ala245Thr) c.217G>A (p.Ala73Thr) n.354G>A c.883G>A (p.Ala295Thr) c.880G>A (p.Ala294Thr) c.745G>A (p.Ala249Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482212G>C	CA401207811	SEPTIN9	c.736G>C (p.Ala246Pro) c.790G>C (p.Ala264Pro) c.298G>C (p.Ala100Pro) n.94G>C n.839G>C c.37G>C (p.Ala13Pro) c.769G>C (p.Ala257Pro) c.454G>C (p.Ala152Pro) c.118G>C (p.Ala40Pro) c.196-5270G>C (n.196-5270G>C) c.241G>C (p.Ala81Pro) c.733G>C (p.Ala245Pro) c.217G>C (p.Ala73Pro) n.354G>C c.883G>C (p.Ala295Pro) c.880G>C (p.Ala294Pro) c.745G>C (p.Ala249Pro)	gnomAD v4
17	g.77482212G=	CA2276500415	SEPTIN9	c.736G= (p.Ala246=) c.790G= (p.Ala264=) c.298G= (p.Ala100=) n.94G= n.839G= c.37G= (p.Ala13=) c.769G= (p.Ala257=) c.454G= (p.Ala152=) c.118G= (p.Ala40=) c.196-5270G= (n.196-5270G=) c.241G= (p.Ala81=) c.733G= (p.Ala245=) c.217G= (p.Ala73=) n.354G= c.883G= (p.Ala295=) c.880G= (p.Ala294=) c.745G= (p.Ala249=)
17	g.77482212G>T	CA401207812	SEPTIN9	c.736G>T (p.Ala246Ser) c.790G>T (p.Ala264Ser) c.298G>T (p.Ala100Ser) n.94G>T n.839G>T c.37G>T (p.Ala13Ser) c.769G>T (p.Ala257Ser) c.454G>T (p.Ala152Ser) c.118G>T (p.Ala40Ser) c.196-5270G>T (n.196-5270G>T) c.241G>T (p.Ala81Ser) c.733G>T (p.Ala245Ser) c.217G>T (p.Ala73Ser) n.354G>T c.883G>T (p.Ala295Ser) c.880G>T (p.Ala294Ser) c.745G>T (p.Ala249Ser)
17	g.77482213C>A	CA401207814	SEPTIN9	c.737C>A (p.Ala246Glu) c.791C>A (p.Ala264Glu) c.299C>A (p.Ala100Glu) n.95C>A n.840C>A c.38C>A (p.Ala13Glu) c.770C>A (p.Ala257Glu) c.455C>A (p.Ala152Glu) c.119C>A (p.Ala40Glu) c.196-5269C>A (n.196-5269C>A) c.242C>A (p.Ala81Glu) c.734C>A (p.Ala245Glu) c.218C>A (p.Ala73Glu) n.355C>A c.884C>A (p.Ala295Glu) c.881C>A (p.Ala294Glu) c.746C>A (p.Ala249Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.77482213C=	CA2276500416	SEPTIN9	c.737C= (p.Ala246=) c.791C= (p.Ala264=) c.299C= (p.Ala100=) n.95C= n.840C= c.38C= (p.Ala13=) c.770C= (p.Ala257=) c.455C= (p.Ala152=) c.119C= (p.Ala40=) c.196-5269C= (n.196-5269C=) c.242C= (p.Ala81=) c.734C= (p.Ala245=) c.218C= (p.Ala73=) n.355C= c.884C= (p.Ala295=) c.881C= (p.Ala294=) c.746C= (p.Ala249=)
17	g.77482213C>G	CA401207813	SEPTIN9	c.737C>G (p.Ala246Gly) c.791C>G (p.Ala264Gly) c.299C>G (p.Ala100Gly) n.95C>G n.840C>G c.38C>G (p.Ala13Gly) c.770C>G (p.Ala257Gly) c.455C>G (p.Ala152Gly) c.119C>G (p.Ala40Gly) c.196-5269C>G (n.196-5269C>G) c.242C>G (p.Ala81Gly) c.734C>G (p.Ala245Gly) c.218C>G (p.Ala73Gly) n.355C>G c.884C>G (p.Ala295Gly) c.881C>G (p.Ala294Gly) c.746C>G (p.Ala249Gly)
17	g.77482213C>T	CA8793525	SEPTIN9	c.737C>T (p.Ala246Val) c.791C>T (p.Ala264Val) c.299C>T (p.Ala100Val) n.95C>T n.840C>T c.38C>T (p.Ala13Val) c.770C>T (p.Ala257Val) c.455C>T (p.Ala152Val) c.119C>T (p.Ala40Val) c.196-5269C>T (n.196-5269C>T) c.242C>T (p.Ala81Val) c.734C>T (p.Ala245Val) c.218C>T (p.Ala73Val) n.355C>T c.884C>T (p.Ala295Val) c.881C>T (p.Ala294Val) c.746C>T (p.Ala249Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482214G>A	CA8793526	SEPTIN9	c.738G>A (p.Ala246=) c.792G>A (p.Ala264=) c.300G>A (p.Ala100=) n.96G>A n.841G>A c.39G>A (p.Ala13=) c.771G>A (p.Ala257=) c.456G>A (p.Ala152=) c.120G>A (p.Ala40=) c.196-5268G>A (n.196-5268G>A) c.243G>A (p.Ala81=) c.735G>A (p.Ala245=) c.219G>A (p.Ala73=) n.356G>A c.885G>A (p.Ala295=) c.882G>A (p.Ala294=) c.747G>A (p.Ala249=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482214G>C	CA501952071	SEPTIN9	c.738G>C (p.Ala246=) c.792G>C (p.Ala264=) c.300G>C (p.Ala100=) n.96G>C n.841G>C c.39G>C (p.Ala13=) c.771G>C (p.Ala257=) c.456G>C (p.Ala152=) c.120G>C (p.Ala40=) c.196-5268G>C (n.196-5268G>C) c.243G>C (p.Ala81=) c.735G>C (p.Ala245=) c.219G>C (p.Ala73=) n.356G>C c.885G>C (p.Ala295=) c.882G>C (p.Ala294=) c.747G>C (p.Ala249=)
17	g.77482214G=	CA2276500417	SEPTIN9	c.738G= (p.Ala246=) c.792G= (p.Ala264=) c.300G= (p.Ala100=) n.96G= n.841G= c.39G= (p.Ala13=) c.771G= (p.Ala257=) c.456G= (p.Ala152=) c.120G= (p.Ala40=) c.196-5268G= (n.196-5268G=) c.243G= (p.Ala81=) c.735G= (p.Ala245=) c.219G= (p.Ala73=) n.356G= c.885G= (p.Ala295=) c.882G= (p.Ala294=) c.747G= (p.Ala249=)
17	g.77482214G>T	CA294293838	SEPTIN9	c.738G>T (p.Ala246=) c.792G>T (p.Ala264=) c.300G>T (p.Ala100=) n.96G>T n.841G>T c.39G>T (p.Ala13=) c.771G>T (p.Ala257=) c.456G>T (p.Ala152=) c.120G>T (p.Ala40=) c.196-5268G>T (n.196-5268G>T) c.243G>T (p.Ala81=) c.735G>T (p.Ala245=) c.219G>T (p.Ala73=) n.356G>T c.885G>T (p.Ala295=) c.882G>T (p.Ala294=) c.747G>T (p.Ala249=)	dbSNP
17	g.77482215C>A	CA401207815	SEPTIN9	c.739C>A (p.Pro247Thr) c.793C>A (p.Pro265Thr) c.301C>A (p.Pro101Thr) n.97C>A n.842C>A c.40C>A (p.Pro14Thr) c.772C>A (p.Pro258Thr) c.457C>A (p.Pro153Thr) c.121C>A (p.Pro41Thr) c.196-5267C>A (n.196-5267C>A) c.244C>A (p.Pro82Thr) c.736C>A (p.Pro246Thr) c.220C>A (p.Pro74Thr) n.357C>A c.886C>A (p.Pro296Thr) c.883C>A (p.Pro295Thr) c.748C>A (p.Pro250Thr)
17	g.77482215C=	CA2276500418	SEPTIN9	c.739C= (p.Pro247=) c.793C= (p.Pro265=) c.301C= (p.Pro101=) n.97C= n.842C= c.40C= (p.Pro14=) c.772C= (p.Pro258=) c.457C= (p.Pro153=) c.121C= (p.Pro41=) c.196-5267C= (n.196-5267C=) c.244C= (p.Pro82=) c.736C= (p.Pro246=) c.220C= (p.Pro74=) n.357C= c.886C= (p.Pro296=) c.883C= (p.Pro295=) c.748C= (p.Pro250=)
17	g.77482215C>G	CA401207816	SEPTIN9	c.739C>G (p.Pro247Ala) c.793C>G (p.Pro265Ala) c.301C>G (p.Pro101Ala) n.97C>G n.842C>G c.40C>G (p.Pro14Ala) c.772C>G (p.Pro258Ala) c.457C>G (p.Pro153Ala) c.121C>G (p.Pro41Ala) c.196-5267C>G (n.196-5267C>G) c.244C>G (p.Pro82Ala) c.736C>G (p.Pro246Ala) c.220C>G (p.Pro74Ala) n.357C>G c.886C>G (p.Pro296Ala) c.883C>G (p.Pro295Ala) c.748C>G (p.Pro250Ala)
17	g.77482215C>T	CA401207817	SEPTIN9	c.739C>T (p.Pro247Ser) c.793C>T (p.Pro265Ser) c.301C>T (p.Pro101Ser) n.97C>T n.842C>T c.40C>T (p.Pro14Ser) c.772C>T (p.Pro258Ser) c.457C>T (p.Pro153Ser) c.121C>T (p.Pro41Ser) c.196-5267C>T (n.196-5267C>T) c.244C>T (p.Pro82Ser) c.736C>T (p.Pro246Ser) c.220C>T (p.Pro74Ser) n.357C>T c.886C>T (p.Pro296Ser) c.883C>T (p.Pro295Ser) c.748C>T (p.Pro250Ser)	dbSNP
17	g.77482216C>A	CA401207818	SEPTIN9	c.740C>A (p.Pro247His) c.794C>A (p.Pro265His) c.302C>A (p.Pro101His) n.98C>A n.843C>A c.41C>A (p.Pro14His) c.773C>A (p.Pro258His) c.458C>A (p.Pro153His) c.122C>A (p.Pro41His) c.196-5266C>A (n.196-5266C>A) c.245C>A (p.Pro82His) c.737C>A (p.Pro246His) c.221C>A (p.Pro74His) n.358C>A c.887C>A (p.Pro296His) c.884C>A (p.Pro295His) c.749C>A (p.Pro250His)
17	g.77482216C>G	CA401207819	SEPTIN9	c.740C>G (p.Pro247Arg) c.794C>G (p.Pro265Arg) c.302C>G (p.Pro101Arg) n.98C>G n.843C>G c.41C>G (p.Pro14Arg) c.773C>G (p.Pro258Arg) c.458C>G (p.Pro153Arg) c.122C>G (p.Pro41Arg) c.196-5266C>G (n.196-5266C>G) c.245C>G (p.Pro82Arg) c.737C>G (p.Pro246Arg) c.221C>G (p.Pro74Arg) n.358C>G c.887C>G (p.Pro296Arg) c.884C>G (p.Pro295Arg) c.749C>G (p.Pro250Arg)
17	g.77482216C>T	CA401207820	SEPTIN9	c.740C>T (p.Pro247Leu) c.794C>T (p.Pro265Leu) c.302C>T (p.Pro101Leu) n.98C>T n.843C>T c.41C>T (p.Pro14Leu) c.773C>T (p.Pro258Leu) c.458C>T (p.Pro153Leu) c.122C>T (p.Pro41Leu) c.196-5266C>T (n.196-5266C>T) c.245C>T (p.Pro82Leu) c.737C>T (p.Pro246Leu) c.221C>T (p.Pro74Leu) n.358C>T c.887C>T (p.Pro296Leu) c.884C>T (p.Pro295Leu) c.749C>T (p.Pro250Leu)
17	g.77482217T>A	CA501952074	SEPTIN9	c.741T>A (p.Pro247=) c.795T>A (p.Pro265=) c.303T>A (p.Pro101=) n.99T>A n.844T>A c.42T>A (p.Pro14=) c.774T>A (p.Pro258=) c.459T>A (p.Pro153=) c.123T>A (p.Pro41=) c.196-5265T>A (n.196-5265T>A) c.246T>A (p.Pro82=) c.738T>A (p.Pro246=) c.222T>A (p.Pro74=) n.359T>A c.888T>A (p.Pro296=) c.885T>A (p.Pro295=) c.750T>A (p.Pro250=)	dbSNP
17	g.77482217T>C	CA501952075	SEPTIN9	c.741T>C (p.Pro247=) c.795T>C (p.Pro265=) c.303T>C (p.Pro101=) n.99T>C n.844T>C c.42T>C (p.Pro14=) c.774T>C (p.Pro258=) c.459T>C (p.Pro153=) c.123T>C (p.Pro41=) c.196-5265T>C (n.196-5265T>C) c.246T>C (p.Pro82=) c.738T>C (p.Pro246=) c.222T>C (p.Pro74=) n.359T>C c.888T>C (p.Pro296=) c.885T>C (p.Pro295=) c.750T>C (p.Pro250=)
17	g.77482217T>G	CA501952076	SEPTIN9	c.741T>G (p.Pro247=) c.795T>G (p.Pro265=) c.303T>G (p.Pro101=) n.99T>G n.844T>G c.42T>G (p.Pro14=) c.774T>G (p.Pro258=) c.459T>G (p.Pro153=) c.123T>G (p.Pro41=) c.196-5265T>G (n.196-5265T>G) c.246T>G (p.Pro82=) c.738T>G (p.Pro246=) c.222T>G (p.Pro74=) n.359T>G c.888T>G (p.Pro296=) c.885T>G (p.Pro295=) c.750T>G (p.Pro250=)
17	g.77482217T=	CA2276500419	SEPTIN9	c.741T= (p.Pro247=) c.795T= (p.Pro265=) c.303T= (p.Pro101=) n.99T= n.844T= c.42T= (p.Pro14=) c.774T= (p.Pro258=) c.459T= (p.Pro153=) c.123T= (p.Pro41=) c.196-5265T= (n.196-5265T=) c.246T= (p.Pro82=) c.738T= (p.Pro246=) c.222T= (p.Pro74=) n.359T= c.888T= (p.Pro296=) c.885T= (p.Pro295=) c.750T= (p.Pro250=)
17	g.77482218G>A	CA8793527	SEPTIN9	c.742G>A (p.Ala248Thr) c.796G>A (p.Ala266Thr) c.304G>A (p.Ala102Thr) n.100G>A n.845G>A c.43G>A (p.Ala15Thr) c.775G>A (p.Ala259Thr) c.460G>A (p.Ala154Thr) c.124G>A (p.Ala42Thr) c.196-5264G>A (n.196-5264G>A) c.247G>A (p.Ala83Thr) c.739G>A (p.Ala247Thr) c.223G>A (p.Ala75Thr) n.360G>A c.889G>A (p.Ala297Thr) c.886G>A (p.Ala296Thr) c.751G>A (p.Ala251Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482218G>C	CA401207821	SEPTIN9	c.742G>C (p.Ala248Pro) c.796G>C (p.Ala266Pro) c.304G>C (p.Ala102Pro) n.100G>C n.845G>C c.43G>C (p.Ala15Pro) c.775G>C (p.Ala259Pro) c.460G>C (p.Ala154Pro) c.124G>C (p.Ala42Pro) c.196-5264G>C (n.196-5264G>C) c.247G>C (p.Ala83Pro) c.739G>C (p.Ala247Pro) c.223G>C (p.Ala75Pro) n.360G>C c.889G>C (p.Ala297Pro) c.886G>C (p.Ala296Pro) c.751G>C (p.Ala251Pro)
17	g.77482218G=	CA2276500420	SEPTIN9	c.742G= (p.Ala248=) c.796G= (p.Ala266=) c.304G= (p.Ala102=) n.100G= n.845G= c.43G= (p.Ala15=) c.775G= (p.Ala259=) c.460G= (p.Ala154=) c.124G= (p.Ala42=) c.196-5264G= (n.196-5264G=) c.247G= (p.Ala83=) c.739G= (p.Ala247=) c.223G= (p.Ala75=) n.360G= c.889G= (p.Ala297=) c.886G= (p.Ala296=) c.751G= (p.Ala251=)
17	g.77482218G>T	CA401207822	SEPTIN9	c.742G>T (p.Ala248Ser) c.796G>T (p.Ala266Ser) c.304G>T (p.Ala102Ser) n.100G>T n.845G>T c.43G>T (p.Ala15Ser) c.775G>T (p.Ala259Ser) c.460G>T (p.Ala154Ser) c.124G>T (p.Ala42Ser) c.196-5264G>T (n.196-5264G>T) c.247G>T (p.Ala83Ser) c.739G>T (p.Ala247Ser) c.223G>T (p.Ala75Ser) n.360G>T c.889G>T (p.Ala297Ser) c.886G>T (p.Ala296Ser) c.751G>T (p.Ala251Ser)
17	g.77482219C>A	CA401207823	SEPTIN9	c.743C>A (p.Ala248Glu) c.797C>A (p.Ala266Glu) c.305C>A (p.Ala102Glu) n.101C>A n.846C>A c.44C>A (p.Ala15Glu) c.776C>A (p.Ala259Glu) c.461C>A (p.Ala154Glu) c.125C>A (p.Ala42Glu) c.196-5263C>A (n.196-5263C>A) c.248C>A (p.Ala83Glu) c.740C>A (p.Ala247Glu) c.224C>A (p.Ala75Glu) n.361C>A c.890C>A (p.Ala297Glu) c.887C>A (p.Ala296Glu) c.752C>A (p.Ala251Glu)
17	g.77482219C=	CA2276500421	SEPTIN9	c.743C= (p.Ala248=) c.797C= (p.Ala266=) c.305C= (p.Ala102=) n.101C= n.846C= c.44C= (p.Ala15=) c.776C= (p.Ala259=) c.461C= (p.Ala154=) c.125C= (p.Ala42=) c.196-5263C= (n.196-5263C=) c.248C= (p.Ala83=) c.740C= (p.Ala247=) c.224C= (p.Ala75=) n.361C= c.890C= (p.Ala297=) c.887C= (p.Ala296=) c.752C= (p.Ala251=)
17	g.77482219C>G	CA401207824	SEPTIN9	c.743C>G (p.Ala248Gly) c.797C>G (p.Ala266Gly) c.305C>G (p.Ala102Gly) n.101C>G n.846C>G c.44C>G (p.Ala15Gly) c.776C>G (p.Ala259Gly) c.461C>G (p.Ala154Gly) c.125C>G (p.Ala42Gly) c.196-5263C>G (n.196-5263C>G) c.248C>G (p.Ala83Gly) c.740C>G (p.Ala247Gly) c.224C>G (p.Ala75Gly) n.361C>G c.890C>G (p.Ala297Gly) c.887C>G (p.Ala296Gly) c.752C>G (p.Ala251Gly)
17	g.77482219C>T	CA401207825	SEPTIN9	c.743C>T (p.Ala248Val) c.797C>T (p.Ala266Val) c.305C>T (p.Ala102Val) n.101C>T n.846C>T c.44C>T (p.Ala15Val) c.776C>T (p.Ala259Val) c.461C>T (p.Ala154Val) c.125C>T (p.Ala42Val) c.196-5263C>T (n.196-5263C>T) c.248C>T (p.Ala83Val) c.740C>T (p.Ala247Val) c.224C>T (p.Ala75Val) n.361C>T c.890C>T (p.Ala297Val) c.887C>T (p.Ala296Val) c.752C>T (p.Ala251Val)	dbSNP
17	g.77482220A>C	CA501952078	SEPTIN9	c.744A>C (p.Ala248=) c.798A>C (p.Ala266=) c.306A>C (p.Ala102=) n.102A>C n.847A>C c.45A>C (p.Ala15=) c.777A>C (p.Ala259=) c.462A>C (p.Ala154=) c.126A>C (p.Ala42=) c.196-5262A>C (n.196-5262A>C) c.249A>C (p.Ala83=) c.741A>C (p.Ala247=) c.225A>C (p.Ala75=) n.362A>C c.891A>C (p.Ala297=) c.888A>C (p.Ala296=) c.753A>C (p.Ala251=)
17	g.77482220A>G	CA501952079	SEPTIN9	c.744A>G (p.Ala248=) c.798A>G (p.Ala266=) c.306A>G (p.Ala102=) n.102A>G n.847A>G c.45A>G (p.Ala15=) c.777A>G (p.Ala259=) c.462A>G (p.Ala154=) c.126A>G (p.Ala42=) c.196-5262A>G (n.196-5262A>G) c.249A>G (p.Ala83=) c.741A>G (p.Ala247=) c.225A>G (p.Ala75=) n.362A>G c.891A>G (p.Ala297=) c.888A>G (p.Ala296=) c.753A>G (p.Ala251=)
17	g.77482220A>T	CA501952080	SEPTIN9	c.744A>T (p.Ala248=) c.798A>T (p.Ala266=) c.306A>T (p.Ala102=) n.102A>T n.847A>T c.45A>T (p.Ala15=) c.777A>T (p.Ala259=) c.462A>T (p.Ala154=) c.126A>T (p.Ala42=) c.196-5262A>T (n.196-5262A>T) c.249A>T (p.Ala83=) c.741A>T (p.Ala247=) c.225A>T (p.Ala75=) n.362A>T c.891A>T (p.Ala297=) c.888A>T (p.Ala296=) c.753A>T (p.Ala251=)
17	g.77482221T>A	CA401207826	SEPTIN9	c.745T>A (p.Ser249Thr) c.799T>A (p.Ser267Thr) c.307T>A (p.Ser103Thr) n.103T>A n.848T>A c.46T>A (p.Ser16Thr) c.778T>A (p.Ser260Thr) c.463T>A (p.Ser155Thr) c.127T>A (p.Ser43Thr) c.196-5261T>A (n.196-5261T>A) c.250T>A (p.Ser84Thr) c.742T>A (p.Ser248Thr) c.226T>A (p.Ser76Thr) n.363T>A c.892T>A (p.Ser298Thr) c.889T>A (p.Ser297Thr) c.754T>A (p.Ser252Thr)
17	g.77482221T>C	CA401207828	SEPTIN9	c.745T>C (p.Ser249Pro) c.799T>C (p.Ser267Pro) c.307T>C (p.Ser103Pro) n.103T>C n.848T>C c.46T>C (p.Ser16Pro) c.778T>C (p.Ser260Pro) c.463T>C (p.Ser155Pro) c.127T>C (p.Ser43Pro) c.196-5261T>C (n.196-5261T>C) c.250T>C (p.Ser84Pro) c.742T>C (p.Ser248Pro) c.226T>C (p.Ser76Pro) n.363T>C c.892T>C (p.Ser298Pro) c.889T>C (p.Ser297Pro) c.754T>C (p.Ser252Pro)	dbSNP
17	g.77482221T>G	CA401207827	SEPTIN9	c.745T>G (p.Ser249Ala) c.799T>G (p.Ser267Ala) c.307T>G (p.Ser103Ala) n.103T>G n.848T>G c.46T>G (p.Ser16Ala) c.778T>G (p.Ser260Ala) c.463T>G (p.Ser155Ala) c.127T>G (p.Ser43Ala) c.196-5261T>G (n.196-5261T>G) c.250T>G (p.Ser84Ala) c.742T>G (p.Ser248Ala) c.226T>G (p.Ser76Ala) n.363T>G c.892T>G (p.Ser298Ala) c.889T>G (p.Ser297Ala) c.754T>G (p.Ser252Ala)
17	g.77482222C>A	CA401207829	SEPTIN9	c.746C>A (p.Ser249Ter) c.800C>A (p.Ser267Ter) c.308C>A (p.Ser103Ter) n.104C>A n.849C>A c.47C>A (p.Ser16Ter) c.779C>A (p.Ser260Ter) c.464C>A (p.Ser155Ter) c.128C>A (p.Ser43Ter) c.196-5260C>A (n.196-5260C>A) c.251C>A (p.Ser84Ter) c.743C>A (p.Ser248Ter) c.227C>A (p.Ser76Ter) n.364C>A c.893C>A (p.Ser298Ter) c.890C>A (p.Ser297Ter) c.755C>A (p.Ser252Ter)
17	g.77482222C>G	CA401207830	SEPTIN9	c.746C>G (p.Ser249Ter) c.800C>G (p.Ser267Ter) c.308C>G (p.Ser103Ter) n.104C>G n.849C>G c.47C>G (p.Ser16Ter) c.779C>G (p.Ser260Ter) c.464C>G (p.Ser155Ter) c.128C>G (p.Ser43Ter) c.196-5260C>G (n.196-5260C>G) c.251C>G (p.Ser84Ter) c.743C>G (p.Ser248Ter) c.227C>G (p.Ser76Ter) n.364C>G c.893C>G (p.Ser298Ter) c.890C>G (p.Ser297Ter) c.755C>G (p.Ser252Ter)
17	g.77482222C>T	CA401207831	SEPTIN9	c.746C>T (p.Ser249Leu) c.800C>T (p.Ser267Leu) c.308C>T (p.Ser103Leu) n.104C>T n.849C>T c.47C>T (p.Ser16Leu) c.779C>T (p.Ser260Leu) c.464C>T (p.Ser155Leu) c.128C>T (p.Ser43Leu) c.196-5260C>T (n.196-5260C>T) c.251C>T (p.Ser84Leu) c.743C>T (p.Ser248Leu) c.227C>T (p.Ser76Leu) n.364C>T c.893C>T (p.Ser298Leu) c.890C>T (p.Ser297Leu) c.755C>T (p.Ser252Leu)
17	g.77482223A>C	CA501952084	SEPTIN9	c.747A>C (p.Ser249=) c.801A>C (p.Ser267=) c.309A>C (p.Ser103=) n.105A>C n.850A>C c.48A>C (p.Ser16=) c.780A>C (p.Ser260=) c.465A>C (p.Ser155=) c.129A>C (p.Ser43=) c.196-5259A>C (n.196-5259A>C) c.252A>C (p.Ser84=) c.744A>C (p.Ser248=) c.228A>C (p.Ser76=) n.365A>C c.894A>C (p.Ser298=) c.891A>C (p.Ser297=) c.756A>C (p.Ser252=)
17	g.77482223A>G	CA501952082	SEPTIN9	c.747A>G (p.Ser249=) c.801A>G (p.Ser267=) c.309A>G (p.Ser103=) n.105A>G n.850A>G c.48A>G (p.Ser16=) c.780A>G (p.Ser260=) c.465A>G (p.Ser155=) c.129A>G (p.Ser43=) c.196-5259A>G (n.196-5259A>G) c.252A>G (p.Ser84=) c.744A>G (p.Ser248=) c.228A>G (p.Ser76=) n.365A>G c.894A>G (p.Ser298=) c.891A>G (p.Ser297=) c.756A>G (p.Ser252=)
17	g.77482223A>T	CA501952083	SEPTIN9	c.747A>T (p.Ser249=) c.801A>T (p.Ser267=) c.309A>T (p.Ser103=) n.105A>T n.850A>T c.48A>T (p.Ser16=) c.780A>T (p.Ser260=) c.465A>T (p.Ser155=) c.129A>T (p.Ser43=) c.196-5259A>T (n.196-5259A>T) c.252A>T (p.Ser84=) c.744A>T (p.Ser248=) c.228A>T (p.Ser76=) n.365A>T c.894A>T (p.Ser298=) c.891A>T (p.Ser297=) c.756A>T (p.Ser252=)
17	g.77482224C>A	CA501952085	SEPTIN9	c.748C>A (p.Arg250=) c.802C>A (p.Arg268=) c.310C>A (p.Arg104=) n.106C>A n.851C>A c.49C>A (p.Arg17=) c.781C>A (p.Arg261=) c.466C>A (p.Arg156=) c.130C>A (p.Arg44=) c.196-5258C>A (n.196-5258C>A) c.253C>A (p.Arg85=) c.745C>A (p.Arg249=) c.229C>A (p.Arg77=) n.366C>A c.895C>A (p.Arg299=) c.892C>A (p.Arg298=) c.757C>A (p.Arg253=)
17	g.77482224C=	CA2276500422	SEPTIN9	c.748C= (p.Arg250=) c.802C= (p.Arg268=) c.310C= (p.Arg104=) n.106C= n.851C= c.49C= (p.Arg17=) c.781C= (p.Arg261=) c.466C= (p.Arg156=) c.130C= (p.Arg44=) c.196-5258C= (n.196-5258C=) c.253C= (p.Arg85=) c.745C= (p.Arg249=) c.229C= (p.Arg77=) n.366C= c.895C= (p.Arg299=) c.892C= (p.Arg298=) c.757C= (p.Arg253=)
17	g.77482224C>G	CA401207832	SEPTIN9	c.748C>G (p.Arg250Gly) c.802C>G (p.Arg268Gly) c.310C>G (p.Arg104Gly) n.106C>G n.851C>G c.49C>G (p.Arg17Gly) c.781C>G (p.Arg261Gly) c.466C>G (p.Arg156Gly) c.130C>G (p.Arg44Gly) c.196-5258C>G (n.196-5258C>G) c.253C>G (p.Arg85Gly) c.745C>G (p.Arg249Gly) c.229C>G (p.Arg77Gly) n.366C>G c.895C>G (p.Arg299Gly) c.892C>G (p.Arg298Gly) c.757C>G (p.Arg253Gly)
17	g.77482224C>T	CA8793528	SEPTIN9	c.748C>T (p.Arg250Trp) c.802C>T (p.Arg268Trp) c.310C>T (p.Arg104Trp) n.106C>T n.851C>T c.49C>T (p.Arg17Trp) c.781C>T (p.Arg261Trp) c.466C>T (p.Arg156Trp) c.130C>T (p.Arg44Trp) c.196-5258C>T (n.196-5258C>T) c.253C>T (p.Arg85Trp) c.745C>T (p.Arg249Trp) c.229C>T (p.Arg77Trp) n.366C>T c.895C>T (p.Arg299Trp) c.892C>T (p.Arg298Trp) c.757C>T (p.Arg253Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482225G>A	CA8793529	SEPTIN9	c.749G>A (p.Arg250Gln) c.803G>A (p.Arg268Gln) c.311G>A (p.Arg104Gln) n.107G>A n.852G>A c.50G>A (p.Arg17Gln) c.782G>A (p.Arg261Gln) c.467G>A (p.Arg156Gln) c.131G>A (p.Arg44Gln) c.196-5257G>A (n.196-5257G>A) c.254G>A (p.Arg85Gln) c.746G>A (p.Arg249Gln) c.230G>A (p.Arg77Gln) n.367G>A c.896G>A (p.Arg299Gln) c.893G>A (p.Arg298Gln) c.758G>A (p.Arg253Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482225G>C	CA401207834	SEPTIN9	c.749G>C (p.Arg250Pro) c.803G>C (p.Arg268Pro) c.311G>C (p.Arg104Pro) n.107G>C n.852G>C c.50G>C (p.Arg17Pro) c.782G>C (p.Arg261Pro) c.467G>C (p.Arg156Pro) c.131G>C (p.Arg44Pro) c.196-5257G>C (n.196-5257G>C) c.254G>C (p.Arg85Pro) c.746G>C (p.Arg249Pro) c.230G>C (p.Arg77Pro) n.367G>C c.896G>C (p.Arg299Pro) c.893G>C (p.Arg298Pro) c.758G>C (p.Arg253Pro)
17	g.77482225G=	CA2276500423	SEPTIN9	c.749G= (p.Arg250=) c.803G= (p.Arg268=) c.311G= (p.Arg104=) n.107G= n.852G= c.50G= (p.Arg17=) c.782G= (p.Arg261=) c.467G= (p.Arg156=) c.131G= (p.Arg44=) c.196-5257G= (n.196-5257G=) c.254G= (p.Arg85=) c.746G= (p.Arg249=) c.230G= (p.Arg77=) n.367G= c.896G= (p.Arg299=) c.893G= (p.Arg298=) c.758G= (p.Arg253=)
17	g.77482225G>T	CA401207833	SEPTIN9	c.749G>T (p.Arg250Leu) c.803G>T (p.Arg268Leu) c.311G>T (p.Arg104Leu) n.107G>T n.852G>T c.50G>T (p.Arg17Leu) c.782G>T (p.Arg261Leu) c.467G>T (p.Arg156Leu) c.131G>T (p.Arg44Leu) c.196-5257G>T (n.196-5257G>T) c.254G>T (p.Arg85Leu) c.746G>T (p.Arg249Leu) c.230G>T (p.Arg77Leu) n.367G>T c.896G>T (p.Arg299Leu) c.893G>T (p.Arg298Leu) c.758G>T (p.Arg253Leu)	gnomAD v4
17	g.77482226G>A	CA501952086	SEPTIN9	c.750G>A (p.Arg250=) c.804G>A (p.Arg268=) c.312G>A (p.Arg104=) n.108G>A n.853G>A c.51G>A (p.Arg17=) c.783G>A (p.Arg261=) c.468G>A (p.Arg156=) c.132G>A (p.Arg44=) c.196-5256G>A (n.196-5256G>A) c.255G>A (p.Arg85=) c.747G>A (p.Arg249=) c.231G>A (p.Arg77=) n.368G>A c.897G>A (p.Arg299=) c.894G>A (p.Arg298=) c.759G>A (p.Arg253=)	dbSNP gnomAD v2 gnomAD v4
17	g.77482226G>C	CA501952087	SEPTIN9	c.750G>C (p.Arg250=) c.804G>C (p.Arg268=) c.312G>C (p.Arg104=) n.108G>C n.853G>C c.51G>C (p.Arg17=) c.783G>C (p.Arg261=) c.468G>C (p.Arg156=) c.132G>C (p.Arg44=) c.196-5256G>C (n.196-5256G>C) c.255G>C (p.Arg85=) c.747G>C (p.Arg249=) c.231G>C (p.Arg77=) n.368G>C c.897G>C (p.Arg299=) c.894G>C (p.Arg298=) c.759G>C (p.Arg253=)
17	g.77482226G=	CA2276500424	SEPTIN9	c.750G= (p.Arg250=) c.804G= (p.Arg268=) c.312G= (p.Arg104=) n.108G= n.853G= c.51G= (p.Arg17=) c.783G= (p.Arg261=) c.468G= (p.Arg156=) c.132G= (p.Arg44=) c.196-5256G= (n.196-5256G=) c.255G= (p.Arg85=) c.747G= (p.Arg249=) c.231G= (p.Arg77=) n.368G= c.897G= (p.Arg299=) c.894G= (p.Arg298=) c.759G= (p.Arg253=)
17	g.77482226G>T	CA501952088	SEPTIN9	c.750G>T (p.Arg250=) c.804G>T (p.Arg268=) c.312G>T (p.Arg104=) n.108G>T n.853G>T c.51G>T (p.Arg17=) c.783G>T (p.Arg261=) c.468G>T (p.Arg156=) c.132G>T (p.Arg44=) c.196-5256G>T (n.196-5256G>T) c.255G>T (p.Arg85=) c.747G>T (p.Arg249=) c.231G>T (p.Arg77=) n.368G>T c.897G>T (p.Arg299=) c.894G>T (p.Arg298=) c.759G>T (p.Arg253=)
17	g.77482227A=	CA2276500425	SEPTIN9	c.751A= (p.Asn251=) c.805A= (p.Asn269=) c.313A= (p.Asn105=) n.109A= n.854A= c.52A= (p.Asn18=) c.784A= (p.Asn262=) c.469A= (p.Asn157=) c.133A= (p.Asn45=) c.196-5255A= (n.196-5255A=) c.256A= (p.Asn86=) c.748A= (p.Asn250=) c.232A= (p.Asn78=) n.369A= c.898A= (p.Asn300=) c.895A= (p.Asn299=) c.760A= (p.Asn254=)
17	g.77482227A>C	CA401207835	SEPTIN9	c.751A>C (p.Asn251His) c.805A>C (p.Asn269His) c.313A>C (p.Asn105His) n.109A>C n.854A>C c.52A>C (p.Asn18His) c.784A>C (p.Asn262His) c.469A>C (p.Asn157His) c.133A>C (p.Asn45His) c.196-5255A>C (n.196-5255A>C) c.256A>C (p.Asn86His) c.748A>C (p.Asn250His) c.232A>C (p.Asn78His) n.369A>C c.898A>C (p.Asn300His) c.895A>C (p.Asn299His) c.760A>C (p.Asn254His)
17	g.77482227A>G	CA401207836	SEPTIN9	c.751A>G (p.Asn251Asp) c.805A>G (p.Asn269Asp) c.313A>G (p.Asn105Asp) n.109A>G n.854A>G c.52A>G (p.Asn18Asp) c.784A>G (p.Asn262Asp) c.469A>G (p.Asn157Asp) c.133A>G (p.Asn45Asp) c.196-5255A>G (n.196-5255A>G) c.256A>G (p.Asn86Asp) c.748A>G (p.Asn250Asp) c.232A>G (p.Asn78Asp) n.369A>G c.898A>G (p.Asn300Asp) c.895A>G (p.Asn299Asp) c.760A>G (p.Asn254Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482227A>T	CA401207837	SEPTIN9	c.751A>T (p.Asn251Tyr) c.805A>T (p.Asn269Tyr) c.313A>T (p.Asn105Tyr) n.109A>T n.854A>T c.52A>T (p.Asn18Tyr) c.784A>T (p.Asn262Tyr) c.469A>T (p.Asn157Tyr) c.133A>T (p.Asn45Tyr) c.196-5255A>T (n.196-5255A>T) c.256A>T (p.Asn86Tyr) c.748A>T (p.Asn250Tyr) c.232A>T (p.Asn78Tyr) n.369A>T c.898A>T (p.Asn300Tyr) c.895A>T (p.Asn299Tyr) c.760A>T (p.Asn254Tyr)
17	g.77482228A>C	CA401207838	SEPTIN9	c.752A>C (p.Asn251Thr) c.806A>C (p.Asn269Thr) c.314A>C (p.Asn105Thr) n.110A>C n.855A>C c.53A>C (p.Asn18Thr) c.785A>C (p.Asn262Thr) c.470A>C (p.Asn157Thr) c.134A>C (p.Asn45Thr) c.196-5254A>C (n.196-5254A>C) c.257A>C (p.Asn86Thr) c.749A>C (p.Asn250Thr) c.233A>C (p.Asn78Thr) n.370A>C c.899A>C (p.Asn300Thr) c.896A>C (p.Asn299Thr) c.761A>C (p.Asn254Thr)
17	g.77482228A>G	CA401207839	SEPTIN9	c.752A>G (p.Asn251Ser) c.806A>G (p.Asn269Ser) c.314A>G (p.Asn105Ser) n.110A>G n.855A>G c.53A>G (p.Asn18Ser) c.785A>G (p.Asn262Ser) c.470A>G (p.Asn157Ser) c.134A>G (p.Asn45Ser) c.196-5254A>G (n.196-5254A>G) c.257A>G (p.Asn86Ser) c.749A>G (p.Asn250Ser) c.233A>G (p.Asn78Ser) n.370A>G c.899A>G (p.Asn300Ser) c.896A>G (p.Asn299Ser) c.761A>G (p.Asn254Ser)	gnomAD v4
17	g.77482228A>T	CA401207840	SEPTIN9	c.752A>T (p.Asn251Ile) c.806A>T (p.Asn269Ile) c.314A>T (p.Asn105Ile) n.110A>T n.855A>T c.53A>T (p.Asn18Ile) c.785A>T (p.Asn262Ile) c.470A>T (p.Asn157Ile) c.134A>T (p.Asn45Ile) c.196-5254A>T (n.196-5254A>T) c.257A>T (p.Asn86Ile) c.749A>T (p.Asn250Ile) c.233A>T (p.Asn78Ile) n.370A>T c.899A>T (p.Asn300Ile) c.896A>T (p.Asn299Ile) c.761A>T (p.Asn254Ile)
17	g.77482229C>A	CA401207841	SEPTIN9	c.753C>A (p.Asn251Lys) c.807C>A (p.Asn269Lys) c.315C>A (p.Asn105Lys) n.111C>A n.856C>A c.54C>A (p.Asn18Lys) c.786C>A (p.Asn262Lys) c.471C>A (p.Asn157Lys) c.135C>A (p.Asn45Lys) c.196-5253C>A (n.196-5253C>A) c.258C>A (p.Asn86Lys) c.750C>A (p.Asn250Lys) c.234C>A (p.Asn78Lys) n.371C>A c.900C>A (p.Asn300Lys) c.897C>A (p.Asn299Lys) c.762C>A (p.Asn254Lys)
17	g.77482229C=	CA2276500426	SEPTIN9	c.753C= (p.Asn251=) c.807C= (p.Asn269=) c.315C= (p.Asn105=) n.111C= n.856C= c.54C= (p.Asn18=) c.786C= (p.Asn262=) c.471C= (p.Asn157=) c.135C= (p.Asn45=) c.196-5253C= (n.196-5253C=) c.258C= (p.Asn86=) c.750C= (p.Asn250=) c.234C= (p.Asn78=) n.371C= c.900C= (p.Asn300=) c.897C= (p.Asn299=) c.762C= (p.Asn254=)
17	g.77482229C>G	CA401207842	SEPTIN9	c.753C>G (p.Asn251Lys) c.807C>G (p.Asn269Lys) c.315C>G (p.Asn105Lys) n.111C>G n.856C>G c.54C>G (p.Asn18Lys) c.786C>G (p.Asn262Lys) c.471C>G (p.Asn157Lys) c.135C>G (p.Asn45Lys) c.196-5253C>G (n.196-5253C>G) c.258C>G (p.Asn86Lys) c.750C>G (p.Asn250Lys) c.234C>G (p.Asn78Lys) n.371C>G c.900C>G (p.Asn300Lys) c.897C>G (p.Asn299Lys) c.762C>G (p.Asn254Lys)
17	g.77482229C>T	CA8793530	SEPTIN9	c.753C>T (p.Asn251=) c.807C>T (p.Asn269=) c.315C>T (p.Asn105=) n.111C>T n.856C>T c.54C>T (p.Asn18=) c.786C>T (p.Asn262=) c.471C>T (p.Asn157=) c.135C>T (p.Asn45=) c.196-5253C>T (n.196-5253C>T) c.258C>T (p.Asn86=) c.750C>T (p.Asn250=) c.234C>T (p.Asn78=) n.371C>T c.900C>T (p.Asn300=) c.897C>T (p.Asn299=) c.762C>T (p.Asn254=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.77482230G>A	CA294293843	SEPTIN9	c.754G>A (p.Glu252Lys) c.808G>A (p.Glu270Lys) c.316G>A (p.Glu106Lys) n.112G>A n.857G>A c.55G>A (p.Glu19Lys) c.787G>A (p.Glu263Lys) c.472G>A (p.Glu158Lys) c.136G>A (p.Glu46Lys) c.196-5252G>A (n.196-5252G>A) c.259G>A (p.Glu87Lys) c.751G>A (p.Glu251Lys) c.235G>A (p.Glu79Lys) n.372G>A c.901G>A (p.Glu301Lys) c.898G>A (p.Glu300Lys) c.763G>A (p.Glu255Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.77482230G>C	CA401207843	SEPTIN9	c.754G>C (p.Glu252Gln) c.808G>C (p.Glu270Gln) c.316G>C (p.Glu106Gln) n.112G>C n.857G>C c.55G>C (p.Glu19Gln) c.787G>C (p.Glu263Gln) c.472G>C (p.Glu158Gln) c.136G>C (p.Glu46Gln) c.196-5252G>C (n.196-5252G>C) c.259G>C (p.Glu87Gln) c.751G>C (p.Glu251Gln) c.235G>C (p.Glu79Gln) n.372G>C c.901G>C (p.Glu301Gln) c.898G>C (p.Glu300Gln) c.763G>C (p.Glu255Gln)
17	g.77482230G=	CA2276500427	SEPTIN9	c.754G= (p.Glu252=) c.808G= (p.Glu270=) c.316G= (p.Glu106=) n.112G= n.857G= c.55G= (p.Glu19=) c.787G= (p.Glu263=) c.472G= (p.Glu158=) c.136G= (p.Glu46=) c.196-5252G= (n.196-5252G=) c.259G= (p.Glu87=) c.751G= (p.Glu251=) c.235G= (p.Glu79=) n.372G= c.901G= (p.Glu301=) c.898G= (p.Glu300=) c.763G= (p.Glu255=)
17	g.77482230G>T	CA401207844	SEPTIN9	c.754G>T (p.Glu252Ter) c.808G>T (p.Glu270Ter) c.316G>T (p.Glu106Ter) n.112G>T n.857G>T c.55G>T (p.Glu19Ter) c.787G>T (p.Glu263Ter) c.472G>T (p.Glu158Ter) c.136G>T (p.Glu46Ter) c.196-5252G>T (n.196-5252G>T) c.259G>T (p.Glu87Ter) c.751G>T (p.Glu251Ter) c.235G>T (p.Glu79Ter) n.372G>T c.901G>T (p.Glu301Ter) c.898G>T (p.Glu300Ter) c.763G>T (p.Glu255Ter)
17	g.77482231A>C	CA401207845	SEPTIN9	c.755A>C (p.Glu252Ala) c.809A>C (p.Glu270Ala) c.317A>C (p.Glu106Ala) n.113A>C n.858A>C c.56A>C (p.Glu19Ala) c.788A>C (p.Glu263Ala) c.473A>C (p.Glu158Ala) c.137A>C (p.Glu46Ala) c.196-5251A>C (n.196-5251A>C) c.260A>C (p.Glu87Ala) c.752A>C (p.Glu251Ala) c.236A>C (p.Glu79Ala) n.373A>C c.902A>C (p.Glu301Ala) c.899A>C (p.Glu300Ala) c.764A>C (p.Glu255Ala)
17	g.77482231A>G	CA401207846	SEPTIN9	c.755A>G (p.Glu252Gly) c.809A>G (p.Glu270Gly) c.317A>G (p.Glu106Gly) n.113A>G n.858A>G c.56A>G (p.Glu19Gly) c.788A>G (p.Glu263Gly) c.473A>G (p.Glu158Gly) c.137A>G (p.Glu46Gly) c.196-5251A>G (n.196-5251A>G) c.260A>G (p.Glu87Gly) c.752A>G (p.Glu251Gly) c.236A>G (p.Glu79Gly) n.373A>G c.902A>G (p.Glu301Gly) c.899A>G (p.Glu300Gly) c.764A>G (p.Glu255Gly)
17	g.77482231A>T	CA401207847	SEPTIN9	c.755A>T (p.Glu252Val) c.809A>T (p.Glu270Val) c.317A>T (p.Glu106Val) n.113A>T n.858A>T c.56A>T (p.Glu19Val) c.788A>T (p.Glu263Val) c.473A>T (p.Glu158Val) c.137A>T (p.Glu46Val) c.196-5251A>T (n.196-5251A>T) c.260A>T (p.Glu87Val) c.752A>T (p.Glu251Val) c.236A>T (p.Glu79Val) n.373A>T c.902A>T (p.Glu301Val) c.899A>T (p.Glu300Val) c.764A>T (p.Glu255Val)
17	g.77482232G>A	CA501952090	SEPTIN9	c.756G>A (p.Glu252=) c.810G>A (p.Glu270=) c.318G>A (p.Glu106=) n.114G>A n.859G>A c.57G>A (p.Glu19=) c.789G>A (p.Glu263=) c.474G>A (p.Glu158=) c.138G>A (p.Glu46=) c.196-5250G>A (n.196-5250G>A) c.261G>A (p.Glu87=) c.753G>A (p.Glu251=) c.237G>A (p.Glu79=) n.374G>A c.903G>A (p.Glu301=) c.900G>A (p.Glu300=) c.765G>A (p.Glu255=)
17	g.77482232G>C	CA401207848	SEPTIN9	c.756G>C (p.Glu252Asp) c.810G>C (p.Glu270Asp) c.318G>C (p.Glu106Asp) n.114G>C n.859G>C c.57G>C (p.Glu19Asp) c.789G>C (p.Glu263Asp) c.474G>C (p.Glu158Asp) c.138G>C (p.Glu46Asp) c.196-5250G>C (n.196-5250G>C) c.261G>C (p.Glu87Asp) c.753G>C (p.Glu251Asp) c.237G>C (p.Glu79Asp) n.374G>C c.903G>C (p.Glu301Asp) c.900G>C (p.Glu300Asp) c.765G>C (p.Glu255Asp)
17	g.77482232G=	CA2276500428	SEPTIN9	c.756G= (p.Glu252=) c.810G= (p.Glu270=) c.318G= (p.Glu106=) n.114G= n.859G= c.57G= (p.Glu19=) c.789G= (p.Glu263=) c.474G= (p.Glu158=) c.138G= (p.Glu46=) c.196-5250G= (n.196-5250G=) c.261G= (p.Glu87=) c.753G= (p.Glu251=) c.237G= (p.Glu79=) n.374G= c.903G= (p.Glu301=) c.900G= (p.Glu300=) c.765G= (p.Glu255=)
17	g.77482232G>T	CA401207849	SEPTIN9	c.756G>T (p.Glu252Asp) c.810G>T (p.Glu270Asp) c.318G>T (p.Glu106Asp) n.114G>T n.859G>T c.57G>T (p.Glu19Asp) c.789G>T (p.Glu263Asp) c.474G>T (p.Glu158Asp) c.138G>T (p.Glu46Asp) c.196-5250G>T (n.196-5250G>T) c.261G>T (p.Glu87Asp) c.753G>T (p.Glu251Asp) c.237G>T (p.Glu79Asp) n.374G>T c.903G>T (p.Glu301Asp) c.900G>T (p.Glu300Asp) c.765G>T (p.Glu255Asp)	dbSNP gnomAD v2
17	g.77482233A>C	CA401207850	SEPTIN9	c.757A>C (p.Lys253Gln) c.811A>C (p.Lys271Gln) c.319A>C (p.Lys107Gln) n.115A>C n.860A>C c.58A>C (p.Lys20Gln) c.790A>C (p.Lys264Gln) c.475A>C (p.Lys159Gln) c.139A>C (p.Lys47Gln) c.196-5249A>C (n.196-5249A>C) c.262A>C (p.Lys88Gln) c.754A>C (p.Lys252Gln) c.238A>C (p.Lys80Gln) n.375A>C c.904A>C (p.Lys302Gln) c.901A>C (p.Lys301Gln) c.766A>C (p.Lys256Gln)
17	g.77482233A>G	CA401207851	SEPTIN9	c.757A>G (p.Lys253Glu) c.811A>G (p.Lys271Glu) c.319A>G (p.Lys107Glu) n.115A>G n.860A>G c.58A>G (p.Lys20Glu) c.790A>G (p.Lys264Glu) c.475A>G (p.Lys159Glu) c.139A>G (p.Lys47Glu) c.196-5249A>G (n.196-5249A>G) c.262A>G (p.Lys88Glu) c.754A>G (p.Lys252Glu) c.238A>G (p.Lys80Glu) n.375A>G c.904A>G (p.Lys302Glu) c.901A>G (p.Lys301Glu) c.766A>G (p.Lys256Glu)	gnomAD v4
17	g.77482233A>T	CA401207852	SEPTIN9	c.757A>T (p.Lys253Ter) c.811A>T (p.Lys271Ter) c.319A>T (p.Lys107Ter) n.115A>T n.860A>T c.58A>T (p.Lys20Ter) c.790A>T (p.Lys264Ter) c.475A>T (p.Lys159Ter) c.139A>T (p.Lys47Ter) c.196-5249A>T (n.196-5249A>T) c.262A>T (p.Lys88Ter) c.754A>T (p.Lys252Ter) c.238A>T (p.Lys80Ter) n.375A>T c.904A>T (p.Lys302Ter) c.901A>T (p.Lys301Ter) c.766A>T (p.Lys256Ter)
17	g.77482234A>C	CA401207854	SEPTIN9	c.758A>C (p.Lys253Thr) c.812A>C (p.Lys271Thr) c.320A>C (p.Lys107Thr) n.116A>C n.861A>C c.59A>C (p.Lys20Thr) c.791A>C (p.Lys264Thr) c.476A>C (p.Lys159Thr) c.140A>C (p.Lys47Thr) c.196-5248A>C (n.196-5248A>C) c.263A>C (p.Lys88Thr) c.755A>C (p.Lys252Thr) c.239A>C (p.Lys80Thr) n.376A>C c.905A>C (p.Lys302Thr) c.902A>C (p.Lys301Thr) c.767A>C (p.Lys256Thr)
17	g.77482234A>G	CA401207855	SEPTIN9	c.758A>G (p.Lys253Arg) c.812A>G (p.Lys271Arg) c.320A>G (p.Lys107Arg) n.116A>G n.861A>G c.59A>G (p.Lys20Arg) c.791A>G (p.Lys264Arg) c.476A>G (p.Lys159Arg) c.140A>G (p.Lys47Arg) c.196-5248A>G (n.196-5248A>G) c.263A>G (p.Lys88Arg) c.755A>G (p.Lys252Arg) c.239A>G (p.Lys80Arg) n.376A>G c.905A>G (p.Lys302Arg) c.902A>G (p.Lys301Arg) c.767A>G (p.Lys256Arg)	gnomAD v4
17	g.77482234A>T	CA401207853	SEPTIN9	c.758A>T (p.Lys253Met) c.812A>T (p.Lys271Met) c.320A>T (p.Lys107Met) n.116A>T n.861A>T c.59A>T (p.Lys20Met) c.791A>T (p.Lys264Met) c.476A>T (p.Lys159Met) c.140A>T (p.Lys47Met) c.196-5248A>T (n.196-5248A>T) c.263A>T (p.Lys88Met) c.755A>T (p.Lys252Met) c.239A>T (p.Lys80Met) n.376A>T c.905A>T (p.Lys302Met) c.902A>T (p.Lys301Met) c.767A>T (p.Lys256Met)
17	g.77482235G>A	CA8793531	SEPTIN9	c.759G>A (p.Lys253=) c.813G>A (p.Lys271=) c.321G>A (p.Lys107=) n.117G>A n.862G>A c.60G>A (p.Lys20=) c.792G>A (p.Lys264=) c.477G>A (p.Lys159=) c.141G>A (p.Lys47=) c.196-5247G>A (n.196-5247G>A) c.264G>A (p.Lys88=) c.756G>A (p.Lys252=) c.240G>A (p.Lys80=) n.377G>A c.906G>A (p.Lys302=) c.903G>A (p.Lys301=) c.768G>A (p.Lys256=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482235G>C	CA401207856	SEPTIN9	c.759G>C (p.Lys253Asn) c.813G>C (p.Lys271Asn) c.321G>C (p.Lys107Asn) n.117G>C n.862G>C c.60G>C (p.Lys20Asn) c.792G>C (p.Lys264Asn) c.477G>C (p.Lys159Asn) c.141G>C (p.Lys47Asn) c.196-5247G>C (n.196-5247G>C) c.264G>C (p.Lys88Asn) c.756G>C (p.Lys252Asn) c.240G>C (p.Lys80Asn) n.377G>C c.906G>C (p.Lys302Asn) c.903G>C (p.Lys301Asn) c.768G>C (p.Lys256Asn)	gnomAD v4
17	g.77482235G=	CA2276500429	SEPTIN9	c.759G= (p.Lys253=) c.813G= (p.Lys271=) c.321G= (p.Lys107=) n.117G= n.862G= c.60G= (p.Lys20=) c.792G= (p.Lys264=) c.477G= (p.Lys159=) c.141G= (p.Lys47=) c.196-5247G= (n.196-5247G=) c.264G= (p.Lys88=) c.756G= (p.Lys252=) c.240G= (p.Lys80=) n.377G= c.906G= (p.Lys302=) c.903G= (p.Lys301=) c.768G= (p.Lys256=)
17	g.77482235G>T	CA401207857	SEPTIN9	c.759G>T (p.Lys253Asn) c.813G>T (p.Lys271Asn) c.321G>T (p.Lys107Asn) n.117G>T n.862G>T c.60G>T (p.Lys20Asn) c.792G>T (p.Lys264Asn) c.477G>T (p.Lys159Asn) c.141G>T (p.Lys47Asn) c.196-5247G>T (n.196-5247G>T) c.264G>T (p.Lys88Asn) c.756G>T (p.Lys252Asn) c.240G>T (p.Lys80Asn) n.377G>T c.906G>T (p.Lys302Asn) c.903G>T (p.Lys301Asn) c.768G>T (p.Lys256Asn)
17	g.77482236G>A	CA401207858	SEPTIN9	c.760G>A (p.Ala254Thr) c.814G>A (p.Ala272Thr) c.322G>A (p.Ala108Thr) n.118G>A n.863G>A c.61G>A (p.Ala21Thr) c.793G>A (p.Ala265Thr) c.478G>A (p.Ala160Thr) c.142G>A (p.Ala48Thr) c.196-5246G>A (n.196-5246G>A) c.265G>A (p.Ala89Thr) c.757G>A (p.Ala253Thr) c.241G>A (p.Ala81Thr) n.378G>A c.907G>A (p.Ala303Thr) c.904G>A (p.Ala302Thr) c.769G>A (p.Ala257Thr)	gnomAD v4
17	g.77482236G>C	CA401207859	SEPTIN9	c.760G>C (p.Ala254Pro) c.814G>C (p.Ala272Pro) c.322G>C (p.Ala108Pro) n.118G>C n.863G>C c.61G>C (p.Ala21Pro) c.793G>C (p.Ala265Pro) c.478G>C (p.Ala160Pro) c.142G>C (p.Ala48Pro) c.196-5246G>C (n.196-5246G>C) c.265G>C (p.Ala89Pro) c.757G>C (p.Ala253Pro) c.241G>C (p.Ala81Pro) n.378G>C c.907G>C (p.Ala303Pro) c.904G>C (p.Ala302Pro) c.769G>C (p.Ala257Pro)
17	g.77482236G>T	CA401207860	SEPTIN9	c.760G>T (p.Ala254Ser) c.814G>T (p.Ala272Ser) c.322G>T (p.Ala108Ser) n.118G>T n.863G>T c.61G>T (p.Ala21Ser) c.793G>T (p.Ala265Ser) c.478G>T (p.Ala160Ser) c.142G>T (p.Ala48Ser) c.196-5246G>T (n.196-5246G>T) c.265G>T (p.Ala89Ser) c.757G>T (p.Ala253Ser) c.241G>T (p.Ala81Ser) n.378G>T c.907G>T (p.Ala303Ser) c.904G>T (p.Ala302Ser) c.769G>T (p.Ala257Ser)
17	g.77482237C>A	CA401207861	SEPTIN9	c.761C>A (p.Ala254Asp) c.815C>A (p.Ala272Asp) c.323C>A (p.Ala108Asp) n.119C>A n.864C>A c.62C>A (p.Ala21Asp) c.794C>A (p.Ala265Asp) c.479C>A (p.Ala160Asp) c.143C>A (p.Ala48Asp) c.196-5245C>A (n.196-5245C>A) c.266C>A (p.Ala89Asp) c.758C>A (p.Ala253Asp) c.242C>A (p.Ala81Asp) n.379C>A c.908C>A (p.Ala303Asp) c.905C>A (p.Ala302Asp) c.770C>A (p.Ala257Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482237C=	CA2276500430	SEPTIN9	c.761C= (p.Ala254=) c.815C= (p.Ala272=) c.323C= (p.Ala108=) n.119C= n.864C= c.62C= (p.Ala21=) c.794C= (p.Ala265=) c.479C= (p.Ala160=) c.143C= (p.Ala48=) c.196-5245C= (n.196-5245C=) c.266C= (p.Ala89=) c.758C= (p.Ala253=) c.242C= (p.Ala81=) n.379C= c.908C= (p.Ala303=) c.905C= (p.Ala302=) c.770C= (p.Ala257=)
17	g.77482237C>G	CA401207862	SEPTIN9	c.761C>G (p.Ala254Gly) c.815C>G (p.Ala272Gly) c.323C>G (p.Ala108Gly) n.119C>G n.864C>G c.62C>G (p.Ala21Gly) c.794C>G (p.Ala265Gly) c.479C>G (p.Ala160Gly) c.143C>G (p.Ala48Gly) c.196-5245C>G (n.196-5245C>G) c.266C>G (p.Ala89Gly) c.758C>G (p.Ala253Gly) c.242C>G (p.Ala81Gly) n.379C>G c.908C>G (p.Ala303Gly) c.905C>G (p.Ala302Gly) c.770C>G (p.Ala257Gly)
17	g.77482237C>T	CA401207863	SEPTIN9	c.761C>T (p.Ala254Val) c.815C>T (p.Ala272Val) c.323C>T (p.Ala108Val) n.119C>T n.864C>T c.62C>T (p.Ala21Val) c.794C>T (p.Ala265Val) c.479C>T (p.Ala160Val) c.143C>T (p.Ala48Val) c.196-5245C>T (n.196-5245C>T) c.266C>T (p.Ala89Val) c.758C>T (p.Ala253Val) c.242C>T (p.Ala81Val) n.379C>T c.908C>T (p.Ala303Val) c.905C>T (p.Ala302Val) c.770C>T (p.Ala257Val)	dbSNP
17	g.77482238C>A	CA501952092	SEPTIN9	c.762C>A (p.Ala254=) c.816C>A (p.Ala272=) c.324C>A (p.Ala108=) n.120C>A n.865C>A c.63C>A (p.Ala21=) c.795C>A (p.Ala265=) c.480C>A (p.Ala160=) c.144C>A (p.Ala48=) c.196-5244C>A (n.196-5244C>A) c.267C>A (p.Ala89=) c.759C>A (p.Ala253=) c.243C>A (p.Ala81=) n.380C>A c.909C>A (p.Ala303=) c.906C>A (p.Ala302=) c.771C>A (p.Ala257=)
17	g.77482238C>G	CA501952093	SEPTIN9	c.762C>G (p.Ala254=) c.816C>G (p.Ala272=) c.324C>G (p.Ala108=) n.120C>G n.865C>G c.63C>G (p.Ala21=) c.795C>G (p.Ala265=) c.480C>G (p.Ala160=) c.144C>G (p.Ala48=) c.196-5244C>G (n.196-5244C>G) c.267C>G (p.Ala89=) c.759C>G (p.Ala253=) c.243C>G (p.Ala81=) n.380C>G c.909C>G (p.Ala303=) c.906C>G (p.Ala302=) c.771C>G (p.Ala257=)
17	g.77482238C>T	CA501952094	SEPTIN9	c.762C>T (p.Ala254=) c.816C>T (p.Ala272=) c.324C>T (p.Ala108=) n.120C>T n.865C>T c.63C>T (p.Ala21=) c.795C>T (p.Ala265=) c.480C>T (p.Ala160=) c.144C>T (p.Ala48=) c.196-5244C>T (n.196-5244C>T) c.267C>T (p.Ala89=) c.759C>T (p.Ala253=) c.243C>T (p.Ala81=) n.380C>T c.909C>T (p.Ala303=) c.906C>T (p.Ala302=) c.771C>T (p.Ala257=)
17	g.77482239C>A	CA401207864	SEPTIN9	c.763C>A (p.Pro255Thr) c.817C>A (p.Pro273Thr) c.325C>A (p.Pro109Thr) n.121C>A n.866C>A c.64C>A (p.Pro22Thr) c.796C>A (p.Pro266Thr) c.481C>A (p.Pro161Thr) c.145C>A (p.Pro49Thr) c.196-5243C>A (n.196-5243C>A) c.268C>A (p.Pro90Thr) c.760C>A (p.Pro254Thr) c.244C>A (p.Pro82Thr) n.381C>A c.910C>A (p.Pro304Thr) c.907C>A (p.Pro303Thr) c.772C>A (p.Pro258Thr)
17	g.77482239C>G	CA401207866	SEPTIN9	c.763C>G (p.Pro255Ala) c.817C>G (p.Pro273Ala) c.325C>G (p.Pro109Ala) n.121C>G n.866C>G c.64C>G (p.Pro22Ala) c.796C>G (p.Pro266Ala) c.481C>G (p.Pro161Ala) c.145C>G (p.Pro49Ala) c.196-5243C>G (n.196-5243C>G) c.268C>G (p.Pro90Ala) c.760C>G (p.Pro254Ala) c.244C>G (p.Pro82Ala) n.381C>G c.910C>G (p.Pro304Ala) c.907C>G (p.Pro303Ala) c.772C>G (p.Pro258Ala)
17	g.77482239C>T	CA401207865	SEPTIN9	c.763C>T (p.Pro255Ser) c.817C>T (p.Pro273Ser) c.325C>T (p.Pro109Ser) n.121C>T n.866C>T c.64C>T (p.Pro22Ser) c.796C>T (p.Pro266Ser) c.481C>T (p.Pro161Ser) c.145C>T (p.Pro49Ser) c.196-5243C>T (n.196-5243C>T) c.268C>T (p.Pro90Ser) c.760C>T (p.Pro254Ser) c.244C>T (p.Pro82Ser) n.381C>T c.910C>T (p.Pro304Ser) c.907C>T (p.Pro303Ser) c.772C>T (p.Pro258Ser)
17	g.77482240C>A	CA401207867	SEPTIN9	c.764C>A (p.Pro255Gln) c.818C>A (p.Pro273Gln) c.326C>A (p.Pro109Gln) n.122C>A n.867C>A c.65C>A (p.Pro22Gln) c.797C>A (p.Pro266Gln) c.482C>A (p.Pro161Gln) c.146C>A (p.Pro49Gln) c.196-5242C>A (n.196-5242C>A) c.269C>A (p.Pro90Gln) c.761C>A (p.Pro254Gln) c.245C>A (p.Pro82Gln) n.382C>A c.911C>A (p.Pro304Gln) c.908C>A (p.Pro303Gln) c.773C>A (p.Pro258Gln)	dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17	g.77482240C=	CA2276500431	SEPTIN9	c.764C= (p.Pro255=) c.818C= (p.Pro273=) c.326C= (p.Pro109=) n.122C= n.867C= c.65C= (p.Pro22=) c.797C= (p.Pro266=) c.482C= (p.Pro161=) c.146C= (p.Pro49=) c.196-5242C= (n.196-5242C=) c.269C= (p.Pro90=) c.761C= (p.Pro254=) c.245C= (p.Pro82=) n.382C= c.911C= (p.Pro304=) c.908C= (p.Pro303=) c.773C= (p.Pro258=)
17	g.77482240C>G	CA401207868	SEPTIN9	c.764C>G (p.Pro255Arg) c.818C>G (p.Pro273Arg) c.326C>G (p.Pro109Arg) n.122C>G n.867C>G c.65C>G (p.Pro22Arg) c.797C>G (p.Pro266Arg) c.482C>G (p.Pro161Arg) c.146C>G (p.Pro49Arg) c.196-5242C>G (n.196-5242C>G) c.269C>G (p.Pro90Arg) c.761C>G (p.Pro254Arg) c.245C>G (p.Pro82Arg) n.382C>G c.911C>G (p.Pro304Arg) c.908C>G (p.Pro303Arg) c.773C>G (p.Pro258Arg)
17	g.77482240C>T	CA8793532	SEPTIN9	c.764C>T (p.Pro255Leu) c.818C>T (p.Pro273Leu) c.326C>T (p.Pro109Leu) n.122C>T n.867C>T c.65C>T (p.Pro22Leu) c.797C>T (p.Pro266Leu) c.482C>T (p.Pro161Leu) c.146C>T (p.Pro49Leu) c.196-5242C>T (n.196-5242C>T) c.269C>T (p.Pro90Leu) c.761C>T (p.Pro254Leu) c.245C>T (p.Pro82Leu) n.382C>T c.911C>T (p.Pro304Leu) c.908C>T (p.Pro303Leu) c.773C>T (p.Pro258Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
17	g.77482240_77482241insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT	CA2566587294	SEPTIN9	c.764_765insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro255_Val256insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.818_819insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro273_Val274insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.326_327insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro109_Val110insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) n.122_123insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT n.867_868insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT c.65_66insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro22_Val23insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.797_798insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro266_Val267insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.482_483insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro161_Val162insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.146_147insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro49_Val50insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.196-5242_196-5241insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (n.196-5242_196-5241insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT) c.269_270insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro90_Val91insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.761_762insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro254_Val255insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.245_246insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro82_Val83insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) n.382_383insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT c.911_912insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro304_Val305insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.908_909insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro303_Val304insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet) c.773_774insTCTTATATATTCGTTGGTATTTGTGATGATGATAAAGCTGCGCATAAATTTTCAAGCCTTTCGGGTATTGAAACTGTTAAGTATAAGAATGTTAACATCTGTGGTATCGAGCAAGATATTAAAATTAAT (p.Pro258_Val259insLeuIleTyrSerLeuValPheValMetMetIleLysLeuArgIleAsnPheGlnAlaPheArgValLeuLysLeuLeuSerIleArgMetLeuThrSerValValSerSerLysIleLeuLysLeuMet)
17	g.77482241G>A	CA8793533	SEPTIN9	c.765G>A (p.Pro255=) c.819G>A (p.Pro273=) c.327G>A (p.Pro109=) n.123G>A n.868G>A c.66G>A (p.Pro22=) c.798G>A (p.Pro266=) c.483G>A (p.Pro161=) c.147G>A (p.Pro49=) c.196-5241G>A (n.196-5241G>A) c.270G>A (p.Pro90=) c.762G>A (p.Pro254=) c.246G>A (p.Pro82=) n.383G>A c.912G>A (p.Pro304=) c.909G>A (p.Pro303=) c.774G>A (p.Pro258=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482241G>C	CA501952096	SEPTIN9	c.765G>C (p.Pro255=) c.819G>C (p.Pro273=) c.327G>C (p.Pro109=) n.123G>C n.868G>C c.66G>C (p.Pro22=) c.798G>C (p.Pro266=) c.483G>C (p.Pro161=) c.147G>C (p.Pro49=) c.196-5241G>C (n.196-5241G>C) c.270G>C (p.Pro90=) c.762G>C (p.Pro254=) c.246G>C (p.Pro82=) n.383G>C c.912G>C (p.Pro304=) c.909G>C (p.Pro303=) c.774G>C (p.Pro258=)
17	g.77482241G=	CA2276500432	SEPTIN9	c.765G= (p.Pro255=) c.819G= (p.Pro273=) c.327G= (p.Pro109=) n.123G= n.868G= c.66G= (p.Pro22=) c.798G= (p.Pro266=) c.483G= (p.Pro161=) c.147G= (p.Pro49=) c.196-5241G= (n.196-5241G=) c.270G= (p.Pro90=) c.762G= (p.Pro254=) c.246G= (p.Pro82=) n.383G= c.912G= (p.Pro304=) c.909G= (p.Pro303=) c.774G= (p.Pro258=)
17	g.77482241G>T	CA501952097	SEPTIN9	c.765G>T (p.Pro255=) c.819G>T (p.Pro273=) c.327G>T (p.Pro109=) n.123G>T n.868G>T c.66G>T (p.Pro22=) c.798G>T (p.Pro266=) c.483G>T (p.Pro161=) c.147G>T (p.Pro49=) c.196-5241G>T (n.196-5241G>T) c.270G>T (p.Pro90=) c.762G>T (p.Pro254=) c.246G>T (p.Pro82=) n.383G>T c.912G>T (p.Pro304=) c.909G>T (p.Pro303=) c.774G>T (p.Pro258=)	dbSNP gnomAD v4
17	g.77482242G>A	CA401207869	SEPTIN9	c.766G>A (p.Val256Met) c.820G>A (p.Val274Met) c.328G>A (p.Val110Met) n.124G>A n.869G>A c.67G>A (p.Val23Met) c.799G>A (p.Val267Met) c.484G>A (p.Val162Met) c.148G>A (p.Val50Met) c.196-5240G>A (n.196-5240G>A) c.271G>A (p.Val91Met) c.763G>A (p.Val255Met) c.247G>A (p.Val83Met) n.384G>A c.913G>A (p.Val305Met) c.910G>A (p.Val304Met) c.775G>A (p.Val259Met)
17	g.77482242G>C	CA401207871	SEPTIN9	c.766G>C (p.Val256Leu) c.820G>C (p.Val274Leu) c.328G>C (p.Val110Leu) n.124G>C n.869G>C c.67G>C (p.Val23Leu) c.799G>C (p.Val267Leu) c.484G>C (p.Val162Leu) c.148G>C (p.Val50Leu) c.196-5240G>C (n.196-5240G>C) c.271G>C (p.Val91Leu) c.763G>C (p.Val255Leu) c.247G>C (p.Val83Leu) n.384G>C c.913G>C (p.Val305Leu) c.910G>C (p.Val304Leu) c.775G>C (p.Val259Leu)	gnomAD v4
17	g.77482242G>T	CA401207870	SEPTIN9	c.766G>T (p.Val256Leu) c.820G>T (p.Val274Leu) c.328G>T (p.Val110Leu) n.124G>T n.869G>T c.67G>T (p.Val23Leu) c.799G>T (p.Val267Leu) c.484G>T (p.Val162Leu) c.148G>T (p.Val50Leu) c.196-5240G>T (n.196-5240G>T) c.271G>T (p.Val91Leu) c.763G>T (p.Val255Leu) c.247G>T (p.Val83Leu) n.384G>T c.913G>T (p.Val305Leu) c.910G>T (p.Val304Leu) c.775G>T (p.Val259Leu)
17	g.77482243T>A	CA401207872	SEPTIN9	c.767T>A (p.Val256Glu) c.821T>A (p.Val274Glu) c.329T>A (p.Val110Glu) n.125T>A n.870T>A c.68T>A (p.Val23Glu) c.800T>A (p.Val267Glu) c.485T>A (p.Val162Glu) c.149T>A (p.Val50Glu) c.196-5239T>A (n.196-5239T>A) c.272T>A (p.Val91Glu) c.764T>A (p.Val255Glu) c.248T>A (p.Val83Glu) n.385T>A c.914T>A (p.Val305Glu) c.911T>A (p.Val304Glu) c.776T>A (p.Val259Glu)
17	g.77482243T>C	CA401207873	SEPTIN9	c.767T>C (p.Val256Ala) c.821T>C (p.Val274Ala) c.329T>C (p.Val110Ala) n.125T>C n.870T>C c.68T>C (p.Val23Ala) c.800T>C (p.Val267Ala) c.485T>C (p.Val162Ala) c.149T>C (p.Val50Ala) c.196-5239T>C (n.196-5239T>C) c.272T>C (p.Val91Ala) c.764T>C (p.Val255Ala) c.248T>C (p.Val83Ala) n.385T>C c.914T>C (p.Val305Ala) c.911T>C (p.Val304Ala) c.776T>C (p.Val259Ala)
17	g.77482243T>G	CA401207874	SEPTIN9	c.767T>G (p.Val256Gly) c.821T>G (p.Val274Gly) c.329T>G (p.Val110Gly) n.125T>G n.870T>G c.68T>G (p.Val23Gly) c.800T>G (p.Val267Gly) c.485T>G (p.Val162Gly) c.149T>G (p.Val50Gly) c.196-5239T>G (n.196-5239T>G) c.272T>G (p.Val91Gly) c.764T>G (p.Val255Gly) c.248T>G (p.Val83Gly) n.385T>G c.914T>G (p.Val305Gly) c.911T>G (p.Val304Gly) c.776T>G (p.Val259Gly)
17	g.77482244G>A	CA501952101	SEPTIN9	c.768G>A (p.Val256=) c.822G>A (p.Val274=) c.330G>A (p.Val110=) n.126G>A n.871G>A c.69G>A (p.Val23=) c.801G>A (p.Val267=) c.486G>A (p.Val162=) c.150G>A (p.Val50=) c.196-5238G>A (n.196-5238G>A) c.273G>A (p.Val91=) c.765G>A (p.Val255=) c.249G>A (p.Val83=) n.386G>A c.915G>A (p.Val305=) c.912G>A (p.Val304=) c.777G>A (p.Val259=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482244G>C	CA501952099	SEPTIN9	c.768G>C (p.Val256=) c.822G>C (p.Val274=) c.330G>C (p.Val110=) n.126G>C n.871G>C c.69G>C (p.Val23=) c.801G>C (p.Val267=) c.486G>C (p.Val162=) c.150G>C (p.Val50=) c.196-5238G>C (n.196-5238G>C) c.273G>C (p.Val91=) c.765G>C (p.Val255=) c.249G>C (p.Val83=) n.386G>C c.915G>C (p.Val305=) c.912G>C (p.Val304=) c.777G>C (p.Val259=)
17	g.77482244G=	CA2276500433	SEPTIN9	c.768G= (p.Val256=) c.822G= (p.Val274=) c.330G= (p.Val110=) n.126G= n.871G= c.69G= (p.Val23=) c.801G= (p.Val267=) c.486G= (p.Val162=) c.150G= (p.Val50=) c.196-5238G= (n.196-5238G=) c.273G= (p.Val91=) c.765G= (p.Val255=) c.249G= (p.Val83=) n.386G= c.915G= (p.Val305=) c.912G= (p.Val304=) c.777G= (p.Val259=)
17	g.77482244G>T	CA501952100	SEPTIN9	c.768G>T (p.Val256=) c.822G>T (p.Val274=) c.330G>T (p.Val110=) n.126G>T n.871G>T c.69G>T (p.Val23=) c.801G>T (p.Val267=) c.486G>T (p.Val162=) c.150G>T (p.Val50=) c.196-5238G>T (n.196-5238G>T) c.273G>T (p.Val91=) c.765G>T (p.Val255=) c.249G>T (p.Val83=) n.386G>T c.915G>T (p.Val305=) c.912G>T (p.Val304=) c.777G>T (p.Val259=)
17	g.77482245G>A	CA401207875	SEPTIN9	c.769G>A (p.Asp257Asn) c.823G>A (p.Asp275Asn) c.331G>A (p.Asp111Asn) n.127G>A n.872G>A c.70G>A (p.Asp24Asn) c.802G>A (p.Asp268Asn) c.487G>A (p.Asp163Asn) c.151G>A (p.Asp51Asn) c.196-5237G>A (n.196-5237G>A) c.274G>A (p.Asp92Asn) c.766G>A (p.Asp256Asn) c.250G>A (p.Asp84Asn) n.387G>A c.916G>A (p.Asp306Asn) c.913G>A (p.Asp305Asn) c.778G>A (p.Asp260Asn)
17	g.77482245G>C	CA401207876	SEPTIN9	c.769G>C (p.Asp257His) c.823G>C (p.Asp275His) c.331G>C (p.Asp111His) n.127G>C n.872G>C c.70G>C (p.Asp24His) c.802G>C (p.Asp268His) c.487G>C (p.Asp163His) c.151G>C (p.Asp51His) c.196-5237G>C (n.196-5237G>C) c.274G>C (p.Asp92His) c.766G>C (p.Asp256His) c.250G>C (p.Asp84His) n.387G>C c.916G>C (p.Asp306His) c.913G>C (p.Asp305His) c.778G>C (p.Asp260His)	gnomAD v4
17	g.77482245G>T	CA401207877	SEPTIN9	c.769G>T (p.Asp257Tyr) c.823G>T (p.Asp275Tyr) c.331G>T (p.Asp111Tyr) n.127G>T n.872G>T c.70G>T (p.Asp24Tyr) c.802G>T (p.Asp268Tyr) c.487G>T (p.Asp163Tyr) c.151G>T (p.Asp51Tyr) c.196-5237G>T (n.196-5237G>T) c.274G>T (p.Asp92Tyr) c.766G>T (p.Asp256Tyr) c.250G>T (p.Asp84Tyr) n.387G>T c.916G>T (p.Asp306Tyr) c.913G>T (p.Asp305Tyr) c.778G>T (p.Asp260Tyr)
17	g.77482246A>C	CA401207878	SEPTIN9	c.770A>C (p.Asp257Ala) c.824A>C (p.Asp275Ala) c.332A>C (p.Asp111Ala) n.128A>C n.873A>C c.71A>C (p.Asp24Ala) c.803A>C (p.Asp268Ala) c.488A>C (p.Asp163Ala) c.152A>C (p.Asp51Ala) c.196-5236A>C (n.196-5236A>C) c.275A>C (p.Asp92Ala) c.767A>C (p.Asp256Ala) c.251A>C (p.Asp84Ala) n.388A>C c.917A>C (p.Asp306Ala) c.914A>C (p.Asp305Ala) c.779A>C (p.Asp260Ala)
17	g.77482246A>G	CA401207879	SEPTIN9	c.770A>G (p.Asp257Gly) c.824A>G (p.Asp275Gly) c.332A>G (p.Asp111Gly) n.128A>G n.873A>G c.71A>G (p.Asp24Gly) c.803A>G (p.Asp268Gly) c.488A>G (p.Asp163Gly) c.152A>G (p.Asp51Gly) c.196-5236A>G (n.196-5236A>G) c.275A>G (p.Asp92Gly) c.767A>G (p.Asp256Gly) c.251A>G (p.Asp84Gly) n.388A>G c.917A>G (p.Asp306Gly) c.914A>G (p.Asp305Gly) c.779A>G (p.Asp260Gly)
17	g.77482246A>T	CA401207880	SEPTIN9	c.770A>T (p.Asp257Val) c.824A>T (p.Asp275Val) c.332A>T (p.Asp111Val) n.128A>T n.873A>T c.71A>T (p.Asp24Val) c.803A>T (p.Asp268Val) c.488A>T (p.Asp163Val) c.152A>T (p.Asp51Val) c.196-5236A>T (n.196-5236A>T) c.275A>T (p.Asp92Val) c.767A>T (p.Asp256Val) c.251A>T (p.Asp84Val) n.388A>T c.917A>T (p.Asp306Val) c.914A>T (p.Asp305Val) c.779A>T (p.Asp260Val)
17	g.77482247C>A	CA401207881	SEPTIN9	c.771C>A (p.Asp257Glu) c.825C>A (p.Asp275Glu) c.333C>A (p.Asp111Glu) n.129C>A n.874C>A c.72C>A (p.Asp24Glu) c.804C>A (p.Asp268Glu) c.489C>A (p.Asp163Glu) c.153C>A (p.Asp51Glu) c.196-5235C>A (n.196-5235C>A) c.276C>A (p.Asp92Glu) c.768C>A (p.Asp256Glu) c.252C>A (p.Asp84Glu) n.389C>A c.918C>A (p.Asp306Glu) c.915C>A (p.Asp305Glu) c.780C>A (p.Asp260Glu)
17	g.77482247C>G	CA401207882	SEPTIN9	c.771C>G (p.Asp257Glu) c.825C>G (p.Asp275Glu) c.333C>G (p.Asp111Glu) n.129C>G n.874C>G c.72C>G (p.Asp24Glu) c.804C>G (p.Asp268Glu) c.489C>G (p.Asp163Glu) c.153C>G (p.Asp51Glu) c.196-5235C>G (n.196-5235C>G) c.276C>G (p.Asp92Glu) c.768C>G (p.Asp256Glu) c.252C>G (p.Asp84Glu) n.389C>G c.918C>G (p.Asp306Glu) c.915C>G (p.Asp305Glu) c.780C>G (p.Asp260Glu)
17	g.77482247C>T	CA501952104	SEPTIN9	c.771C>T (p.Asp257=) c.825C>T (p.Asp275=) c.333C>T (p.Asp111=) n.129C>T n.874C>T c.72C>T (p.Asp24=) c.804C>T (p.Asp268=) c.489C>T (p.Asp163=) c.153C>T (p.Asp51=) c.196-5235C>T (n.196-5235C>T) c.276C>T (p.Asp92=) c.768C>T (p.Asp256=) c.252C>T (p.Asp84=) n.389C>T c.918C>T (p.Asp306=) c.915C>T (p.Asp305=) c.780C>T (p.Asp260=)	gnomAD v4
17	g.77482248T>A	CA401207883	SEPTIN9	c.772T>A (p.Phe258Ile) c.826T>A (p.Phe276Ile) c.334T>A (p.Phe112Ile) n.130T>A n.875T>A c.73T>A (p.Phe25Ile) c.805T>A (p.Phe269Ile) c.490T>A (p.Phe164Ile) c.154T>A (p.Phe52Ile) c.196-5234T>A (n.196-5234T>A) c.277T>A (p.Phe93Ile) c.769T>A (p.Phe257Ile) c.253T>A (p.Phe85Ile) n.390T>A c.919T>A (p.Phe307Ile) c.916T>A (p.Phe306Ile) c.781T>A (p.Phe261Ile)
17	g.77482248T>C	CA401207885	SEPTIN9	c.772T>C (p.Phe258Leu) c.826T>C (p.Phe276Leu) c.334T>C (p.Phe112Leu) n.130T>C n.875T>C c.73T>C (p.Phe25Leu) c.805T>C (p.Phe269Leu) c.490T>C (p.Phe164Leu) c.154T>C (p.Phe52Leu) c.196-5234T>C (n.196-5234T>C) c.277T>C (p.Phe93Leu) c.769T>C (p.Phe257Leu) c.253T>C (p.Phe85Leu) n.390T>C c.919T>C (p.Phe307Leu) c.916T>C (p.Phe306Leu) c.781T>C (p.Phe261Leu)
17	g.77482248T>G	CA401207884	SEPTIN9	c.772T>G (p.Phe258Val) c.826T>G (p.Phe276Val) c.334T>G (p.Phe112Val) n.130T>G n.875T>G c.73T>G (p.Phe25Val) c.805T>G (p.Phe269Val) c.490T>G (p.Phe164Val) c.154T>G (p.Phe52Val) c.196-5234T>G (n.196-5234T>G) c.277T>G (p.Phe93Val) c.769T>G (p.Phe257Val) c.253T>G (p.Phe85Val) n.390T>G c.919T>G (p.Phe307Val) c.916T>G (p.Phe306Val) c.781T>G (p.Phe261Val)
17	g.77482249T>A	CA401207886	SEPTIN9	c.773T>A (p.Phe258Tyr) c.827T>A (p.Phe276Tyr) c.335T>A (p.Phe112Tyr) n.131T>A n.876T>A c.74T>A (p.Phe25Tyr) c.806T>A (p.Phe269Tyr) c.491T>A (p.Phe164Tyr) c.155T>A (p.Phe52Tyr) c.196-5233T>A (n.196-5233T>A) c.278T>A (p.Phe93Tyr) c.770T>A (p.Phe257Tyr) c.254T>A (p.Phe85Tyr) n.391T>A c.920T>A (p.Phe307Tyr) c.917T>A (p.Phe306Tyr) c.782T>A (p.Phe261Tyr)
17	g.77482249T>C	CA401207887	SEPTIN9	c.773T>C (p.Phe258Ser) c.827T>C (p.Phe276Ser) c.335T>C (p.Phe112Ser) n.131T>C n.876T>C c.74T>C (p.Phe25Ser) c.806T>C (p.Phe269Ser) c.491T>C (p.Phe164Ser) c.155T>C (p.Phe52Ser) c.196-5233T>C (n.196-5233T>C) c.278T>C (p.Phe93Ser) c.770T>C (p.Phe257Ser) c.254T>C (p.Phe85Ser) n.391T>C c.920T>C (p.Phe307Ser) c.917T>C (p.Phe306Ser) c.782T>C (p.Phe261Ser)
17	g.77482249T>G	CA401207888	SEPTIN9	c.773T>G (p.Phe258Cys) c.827T>G (p.Phe276Cys) c.335T>G (p.Phe112Cys) n.131T>G n.876T>G c.74T>G (p.Phe25Cys) c.806T>G (p.Phe269Cys) c.491T>G (p.Phe164Cys) c.155T>G (p.Phe52Cys) c.196-5233T>G (n.196-5233T>G) c.278T>G (p.Phe93Cys) c.770T>G (p.Phe257Cys) c.254T>G (p.Phe85Cys) n.391T>G c.920T>G (p.Phe307Cys) c.917T>G (p.Phe306Cys) c.782T>G (p.Phe261Cys)
17	g.77482250C>A	CA401207889	SEPTIN9	c.774C>A (p.Phe258Leu) c.828C>A (p.Phe276Leu) c.336C>A (p.Phe112Leu) n.132C>A n.877C>A c.75C>A (p.Phe25Leu) c.807C>A (p.Phe269Leu) c.492C>A (p.Phe164Leu) c.156C>A (p.Phe52Leu) c.196-5232C>A (n.196-5232C>A) c.279C>A (p.Phe93Leu) c.771C>A (p.Phe257Leu) c.255C>A (p.Phe85Leu) n.392C>A c.921C>A (p.Phe307Leu) c.918C>A (p.Phe306Leu) c.783C>A (p.Phe261Leu)
17	g.77482250C=	CA2276500434	SEPTIN9	c.774C= (p.Phe258=) c.828C= (p.Phe276=) c.336C= (p.Phe112=) n.132C= n.877C= c.75C= (p.Phe25=) c.807C= (p.Phe269=) c.492C= (p.Phe164=) c.156C= (p.Phe52=) c.196-5232C= (n.196-5232C=) c.279C= (p.Phe93=) c.771C= (p.Phe257=) c.255C= (p.Phe85=) n.392C= c.921C= (p.Phe307=) c.918C= (p.Phe306=) c.783C= (p.Phe261=)
17	g.77482250C>G	CA401207890	SEPTIN9	c.774C>G (p.Phe258Leu) c.828C>G (p.Phe276Leu) c.336C>G (p.Phe112Leu) n.132C>G n.877C>G c.75C>G (p.Phe25Leu) c.807C>G (p.Phe269Leu) c.492C>G (p.Phe164Leu) c.156C>G (p.Phe52Leu) c.196-5232C>G (n.196-5232C>G) c.279C>G (p.Phe93Leu) c.771C>G (p.Phe257Leu) c.255C>G (p.Phe85Leu) n.392C>G c.921C>G (p.Phe307Leu) c.918C>G (p.Phe306Leu) c.783C>G (p.Phe261Leu)
17	g.77482250C>T	CA8793534	SEPTIN9	c.774C>T (p.Phe258=) c.828C>T (p.Phe276=) c.336C>T (p.Phe112=) n.132C>T n.877C>T c.75C>T (p.Phe25=) c.807C>T (p.Phe269=) c.492C>T (p.Phe164=) c.156C>T (p.Phe52=) c.196-5232C>T (n.196-5232C>T) c.279C>T (p.Phe93=) c.771C>T (p.Phe257=) c.255C>T (p.Phe85=) n.392C>T c.921C>T (p.Phe307=) c.918C>T (p.Phe306=) c.783C>T (p.Phe261=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482251G>A	CA8793535	SEPTIN9	c.775G>A (p.Gly259Ser) c.829G>A (p.Gly277Ser) c.337G>A (p.Gly113Ser) n.133G>A n.878G>A c.76G>A (p.Gly26Ser) c.808G>A (p.Gly270Ser) c.493G>A (p.Gly165Ser) c.157G>A (p.Gly53Ser) c.196-5231G>A (n.196-5231G>A) c.280G>A (p.Gly94Ser) c.772G>A (p.Gly258Ser) c.256G>A (p.Gly86Ser) n.393G>A c.922G>A (p.Gly308Ser) c.919G>A (p.Gly307Ser) c.784G>A (p.Gly262Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482251G>C	CA401207891	SEPTIN9	c.775G>C (p.Gly259Arg) c.829G>C (p.Gly277Arg) c.337G>C (p.Gly113Arg) n.133G>C n.878G>C c.76G>C (p.Gly26Arg) c.808G>C (p.Gly270Arg) c.493G>C (p.Gly165Arg) c.157G>C (p.Gly53Arg) c.196-5231G>C (n.196-5231G>C) c.280G>C (p.Gly94Arg) c.772G>C (p.Gly258Arg) c.256G>C (p.Gly86Arg) n.393G>C c.922G>C (p.Gly308Arg) c.919G>C (p.Gly307Arg) c.784G>C (p.Gly262Arg)
17	g.77482251G=	CA2276500435	SEPTIN9	c.775G= (p.Gly259=) c.829G= (p.Gly277=) c.337G= (p.Gly113=) n.133G= n.878G= c.76G= (p.Gly26=) c.808G= (p.Gly270=) c.493G= (p.Gly165=) c.157G= (p.Gly53=) c.196-5231G= (n.196-5231G=) c.280G= (p.Gly94=) c.772G= (p.Gly258=) c.256G= (p.Gly86=) n.393G= c.922G= (p.Gly308=) c.919G= (p.Gly307=) c.784G= (p.Gly262=)
17	g.77482251G>T	CA401207892	SEPTIN9	c.775G>T (p.Gly259Cys) c.829G>T (p.Gly277Cys) c.337G>T (p.Gly113Cys) n.133G>T n.878G>T c.76G>T (p.Gly26Cys) c.808G>T (p.Gly270Cys) c.493G>T (p.Gly165Cys) c.157G>T (p.Gly53Cys) c.196-5231G>T (n.196-5231G>T) c.280G>T (p.Gly94Cys) c.772G>T (p.Gly258Cys) c.256G>T (p.Gly86Cys) n.393G>T c.922G>T (p.Gly308Cys) c.919G>T (p.Gly307Cys) c.784G>T (p.Gly262Cys)
17	g.77482252G>A	CA401207893	SEPTIN9	c.776G>A (p.Gly259Asp) c.830G>A (p.Gly277Asp) c.338G>A (p.Gly113Asp) n.134G>A n.879G>A c.77G>A (p.Gly26Asp) c.809G>A (p.Gly270Asp) c.494G>A (p.Gly165Asp) c.158G>A (p.Gly53Asp) c.196-5230G>A (n.196-5230G>A) c.281G>A (p.Gly94Asp) c.773G>A (p.Gly258Asp) c.257G>A (p.Gly86Asp) n.394G>A c.923G>A (p.Gly308Asp) c.920G>A (p.Gly307Asp) c.785G>A (p.Gly262Asp)	COSMIC COSMIC COSMIC COSMIC COSMIC
17	g.77482252G>C	CA401207894	SEPTIN9	c.776G>C (p.Gly259Ala) c.830G>C (p.Gly277Ala) c.338G>C (p.Gly113Ala) n.134G>C n.879G>C c.77G>C (p.Gly26Ala) c.809G>C (p.Gly270Ala) c.494G>C (p.Gly165Ala) c.158G>C (p.Gly53Ala) c.196-5230G>C (n.196-5230G>C) c.281G>C (p.Gly94Ala) c.773G>C (p.Gly258Ala) c.257G>C (p.Gly86Ala) n.394G>C c.923G>C (p.Gly308Ala) c.920G>C (p.Gly307Ala) c.785G>C (p.Gly262Ala)	gnomAD v4
17	g.77482252G>T	CA401207895	SEPTIN9	c.776G>T (p.Gly259Val) c.830G>T (p.Gly277Val) c.338G>T (p.Gly113Val) n.134G>T n.879G>T c.77G>T (p.Gly26Val) c.809G>T (p.Gly270Val) c.494G>T (p.Gly165Val) c.158G>T (p.Gly53Val) c.196-5230G>T (n.196-5230G>T) c.281G>T (p.Gly94Val) c.773G>T (p.Gly258Val) c.257G>T (p.Gly86Val) n.394G>T c.923G>T (p.Gly308Val) c.920G>T (p.Gly307Val) c.785G>T (p.Gly262Val)
17	g.77482253C>A	CA501952108	SEPTIN9	c.777C>A (p.Gly259=) c.831C>A (p.Gly277=) c.339C>A (p.Gly113=) n.135C>A n.880C>A c.78C>A (p.Gly26=) c.810C>A (p.Gly270=) c.495C>A (p.Gly165=) c.159C>A (p.Gly53=) c.196-5229C>A (n.196-5229C>A) c.282C>A (p.Gly94=) c.774C>A (p.Gly258=) c.258C>A (p.Gly86=) n.395C>A c.924C>A (p.Gly308=) c.921C>A (p.Gly307=) c.786C>A (p.Gly262=)
17	g.77482253C=	CA2276500436	SEPTIN9	c.777C= (p.Gly259=) c.831C= (p.Gly277=) c.339C= (p.Gly113=) n.135C= n.880C= c.78C= (p.Gly26=) c.810C= (p.Gly270=) c.495C= (p.Gly165=) c.159C= (p.Gly53=) c.196-5229C= (n.196-5229C=) c.282C= (p.Gly94=) c.774C= (p.Gly258=) c.258C= (p.Gly86=) n.395C= c.924C= (p.Gly308=) c.921C= (p.Gly307=) c.786C= (p.Gly262=)
17	g.77482253C>G	CA501952109	SEPTIN9	c.777C>G (p.Gly259=) c.831C>G (p.Gly277=) c.339C>G (p.Gly113=) n.135C>G n.880C>G c.78C>G (p.Gly26=) c.810C>G (p.Gly270=) c.495C>G (p.Gly165=) c.159C>G (p.Gly53=) c.196-5229C>G (n.196-5229C>G) c.282C>G (p.Gly94=) c.774C>G (p.Gly258=) c.258C>G (p.Gly86=) n.395C>G c.924C>G (p.Gly308=) c.921C>G (p.Gly307=) c.786C>G (p.Gly262=)
17	g.77482253C>T	CA501952110	SEPTIN9	c.777C>T (p.Gly259=) c.831C>T (p.Gly277=) c.339C>T (p.Gly113=) n.135C>T n.880C>T c.78C>T (p.Gly26=) c.810C>T (p.Gly270=) c.495C>T (p.Gly165=) c.159C>T (p.Gly53=) c.196-5229C>T (n.196-5229C>T) c.282C>T (p.Gly94=) c.774C>T (p.Gly258=) c.258C>T (p.Gly86=) n.395C>T c.924C>T (p.Gly308=) c.921C>T (p.Gly307=) c.786C>T (p.Gly262=)	dbSNP
17	g.77482254T>A	CA401207898	SEPTIN9	c.778T>A (p.Tyr260Asn) c.832T>A (p.Tyr278Asn) c.340T>A (p.Tyr114Asn) n.136T>A n.881T>A c.79T>A (p.Tyr27Asn) c.811T>A (p.Tyr271Asn) c.496T>A (p.Tyr166Asn) c.160T>A (p.Tyr54Asn) c.196-5228T>A (n.196-5228T>A) c.283T>A (p.Tyr95Asn) c.775T>A (p.Tyr259Asn) c.259T>A (p.Tyr87Asn) n.396T>A c.925T>A (p.Tyr309Asn) c.922T>A (p.Tyr308Asn) c.787T>A (p.Tyr263Asn)
17	g.77482254T>C	CA401207896	SEPTIN9	c.778T>C (p.Tyr260His) c.832T>C (p.Tyr278His) c.340T>C (p.Tyr114His) n.136T>C n.881T>C c.79T>C (p.Tyr27His) c.811T>C (p.Tyr271His) c.496T>C (p.Tyr166His) c.160T>C (p.Tyr54His) c.196-5228T>C (n.196-5228T>C) c.283T>C (p.Tyr95His) c.775T>C (p.Tyr259His) c.259T>C (p.Tyr87His) n.396T>C c.925T>C (p.Tyr309His) c.922T>C (p.Tyr308His) c.787T>C (p.Tyr263His)	gnomAD v4
17	g.77482254T>G	CA401207897	SEPTIN9	c.778T>G (p.Tyr260Asp) c.832T>G (p.Tyr278Asp) c.340T>G (p.Tyr114Asp) n.136T>G n.881T>G c.79T>G (p.Tyr27Asp) c.811T>G (p.Tyr271Asp) c.496T>G (p.Tyr166Asp) c.160T>G (p.Tyr54Asp) c.196-5228T>G (n.196-5228T>G) c.283T>G (p.Tyr95Asp) c.775T>G (p.Tyr259Asp) c.259T>G (p.Tyr87Asp) n.396T>G c.925T>G (p.Tyr309Asp) c.922T>G (p.Tyr308Asp) c.787T>G (p.Tyr263Asp)
17	g.77482255A>C	CA401207899	SEPTIN9	c.779A>C (p.Tyr260Ser) c.833A>C (p.Tyr278Ser) c.341A>C (p.Tyr114Ser) n.137A>C n.882A>C c.80A>C (p.Tyr27Ser) c.812A>C (p.Tyr271Ser) c.497A>C (p.Tyr166Ser) c.161A>C (p.Tyr54Ser) c.196-5227A>C (n.196-5227A>C) c.284A>C (p.Tyr95Ser) c.776A>C (p.Tyr259Ser) c.260A>C (p.Tyr87Ser) n.397A>C c.926A>C (p.Tyr309Ser) c.923A>C (p.Tyr308Ser) c.788A>C (p.Tyr263Ser)
17	g.77482255A>G	CA401207900	SEPTIN9	c.779A>G (p.Tyr260Cys) c.833A>G (p.Tyr278Cys) c.341A>G (p.Tyr114Cys) n.137A>G n.882A>G c.80A>G (p.Tyr27Cys) c.812A>G (p.Tyr271Cys) c.497A>G (p.Tyr166Cys) c.161A>G (p.Tyr54Cys) c.196-5227A>G (n.196-5227A>G) c.284A>G (p.Tyr95Cys) c.776A>G (p.Tyr259Cys) c.260A>G (p.Tyr87Cys) n.397A>G c.926A>G (p.Tyr309Cys) c.923A>G (p.Tyr308Cys) c.788A>G (p.Tyr263Cys)
17	g.77482255A>T	CA401207901	SEPTIN9	c.779A>T (p.Tyr260Phe) c.833A>T (p.Tyr278Phe) c.341A>T (p.Tyr114Phe) n.137A>T n.882A>T c.80A>T (p.Tyr27Phe) c.812A>T (p.Tyr271Phe) c.497A>T (p.Tyr166Phe) c.161A>T (p.Tyr54Phe) c.196-5227A>T (n.196-5227A>T) c.284A>T (p.Tyr95Phe) c.776A>T (p.Tyr259Phe) c.260A>T (p.Tyr87Phe) n.397A>T c.926A>T (p.Tyr309Phe) c.923A>T (p.Tyr308Phe) c.788A>T (p.Tyr263Phe)
17	g.77482256C>A	CA401207902	SEPTIN9	c.780C>A (p.Tyr260Ter) c.834C>A (p.Tyr278Ter) c.342C>A (p.Tyr114Ter) n.138C>A n.883C>A c.81C>A (p.Tyr27Ter) c.813C>A (p.Tyr271Ter) c.498C>A (p.Tyr166Ter) c.162C>A (p.Tyr54Ter) c.196-5226C>A (n.196-5226C>A) c.285C>A (p.Tyr95Ter) c.777C>A (p.Tyr259Ter) c.261C>A (p.Tyr87Ter) n.398C>A c.927C>A (p.Tyr309Ter) c.924C>A (p.Tyr308Ter) c.789C>A (p.Tyr263Ter)
17	g.77482256C=	CA2276500437	SEPTIN9	c.780C= (p.Tyr260=) c.834C= (p.Tyr278=) c.342C= (p.Tyr114=) n.138C= n.883C= c.81C= (p.Tyr27=) c.813C= (p.Tyr271=) c.498C= (p.Tyr166=) c.162C= (p.Tyr54=) c.196-5226C= (n.196-5226C=) c.285C= (p.Tyr95=) c.777C= (p.Tyr259=) c.261C= (p.Tyr87=) n.398C= c.927C= (p.Tyr309=) c.924C= (p.Tyr308=) c.789C= (p.Tyr263=)
17	g.77482256C>G	CA8793536	SEPTIN9	c.780C>G (p.Tyr260Ter) c.834C>G (p.Tyr278Ter) c.342C>G (p.Tyr114Ter) n.138C>G n.883C>G c.81C>G (p.Tyr27Ter) c.813C>G (p.Tyr271Ter) c.498C>G (p.Tyr166Ter) c.162C>G (p.Tyr54Ter) c.196-5226C>G (n.196-5226C>G) c.285C>G (p.Tyr95Ter) c.777C>G (p.Tyr259Ter) c.261C>G (p.Tyr87Ter) n.398C>G c.927C>G (p.Tyr309Ter) c.924C>G (p.Tyr308Ter) c.789C>G (p.Tyr263Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.77482256C>T	CA8793537	SEPTIN9	c.780C>T (p.Tyr260=) c.834C>T (p.Tyr278=) c.342C>T (p.Tyr114=) n.138C>T n.883C>T c.81C>T (p.Tyr27=) c.813C>T (p.Tyr271=) c.498C>T (p.Tyr166=) c.162C>T (p.Tyr54=) c.196-5226C>T (n.196-5226C>T) c.285C>T (p.Tyr95=) c.777C>T (p.Tyr259=) c.261C>T (p.Tyr87=) n.398C>T c.927C>T (p.Tyr309=) c.924C>T (p.Tyr308=) c.789C>T (p.Tyr263=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
17	g.77482257G>A	CA8793538	SEPTIN9	c.781G>A (p.Val261Met) c.835G>A (p.Val279Met) c.343G>A (p.Val115Met) n.139G>A n.884G>A c.82G>A (p.Val28Met) c.814G>A (p.Val272Met) c.499G>A (p.Val167Met) c.163G>A (p.Val55Met) c.196-5225G>A (n.196-5225G>A) c.286G>A (p.Val96Met) c.778G>A (p.Val260Met) c.262G>A (p.Val88Met) n.399G>A c.928G>A (p.Val310Met) c.925G>A (p.Val309Met) c.790G>A (p.Val264Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482257G>C	CA401207903	SEPTIN9	c.781G>C (p.Val261Leu) c.835G>C (p.Val279Leu) c.343G>C (p.Val115Leu) n.139G>C n.884G>C c.82G>C (p.Val28Leu) c.814G>C (p.Val272Leu) c.499G>C (p.Val167Leu) c.163G>C (p.Val55Leu) c.196-5225G>C (n.196-5225G>C) c.286G>C (p.Val96Leu) c.778G>C (p.Val260Leu) c.262G>C (p.Val88Leu) n.399G>C c.928G>C (p.Val310Leu) c.925G>C (p.Val309Leu) c.790G>C (p.Val264Leu)
17	g.77482257G=	CA2276500438	SEPTIN9	c.781G= (p.Val261=) c.835G= (p.Val279=) c.343G= (p.Val115=) n.139G= n.884G= c.82G= (p.Val28=) c.814G= (p.Val272=) c.499G= (p.Val167=) c.163G= (p.Val55=) c.196-5225G= (n.196-5225G=) c.286G= (p.Val96=) c.778G= (p.Val260=) c.262G= (p.Val88=) n.399G= c.928G= (p.Val310=) c.925G= (p.Val309=) c.790G= (p.Val264=)
17	g.77482257G>T	CA401207904	SEPTIN9	c.781G>T (p.Val261Leu) c.835G>T (p.Val279Leu) c.343G>T (p.Val115Leu) n.139G>T n.884G>T c.82G>T (p.Val28Leu) c.814G>T (p.Val272Leu) c.499G>T (p.Val167Leu) c.163G>T (p.Val55Leu) c.196-5225G>T (n.196-5225G>T) c.286G>T (p.Val96Leu) c.778G>T (p.Val260Leu) c.262G>T (p.Val88Leu) n.399G>T c.928G>T (p.Val310Leu) c.925G>T (p.Val309Leu) c.790G>T (p.Val264Leu)	gnomAD v4
17	g.77482258T>A	CA401207905	SEPTIN9	c.782T>A (p.Val261Glu) c.836T>A (p.Val279Glu) c.344T>A (p.Val115Glu) n.140T>A n.885T>A c.83T>A (p.Val28Glu) c.815T>A (p.Val272Glu) c.500T>A (p.Val167Glu) c.164T>A (p.Val55Glu) c.196-5224T>A (n.196-5224T>A) c.287T>A (p.Val96Glu) c.779T>A (p.Val260Glu) c.263T>A (p.Val88Glu) n.400T>A c.929T>A (p.Val310Glu) c.926T>A (p.Val309Glu) c.791T>A (p.Val264Glu)
17	g.77482258T>C	CA401207906	SEPTIN9	c.782T>C (p.Val261Ala) c.836T>C (p.Val279Ala) c.344T>C (p.Val115Ala) n.140T>C n.885T>C c.83T>C (p.Val28Ala) c.815T>C (p.Val272Ala) c.500T>C (p.Val167Ala) c.164T>C (p.Val55Ala) c.196-5224T>C (n.196-5224T>C) c.287T>C (p.Val96Ala) c.779T>C (p.Val260Ala) c.263T>C (p.Val88Ala) n.400T>C c.929T>C (p.Val310Ala) c.926T>C (p.Val309Ala) c.791T>C (p.Val264Ala)
17	g.77482258T>G	CA401207907	SEPTIN9	c.782T>G (p.Val261Gly) c.836T>G (p.Val279Gly) c.344T>G (p.Val115Gly) n.140T>G n.885T>G c.83T>G (p.Val28Gly) c.815T>G (p.Val272Gly) c.500T>G (p.Val167Gly) c.164T>G (p.Val55Gly) c.196-5224T>G (n.196-5224T>G) c.287T>G (p.Val96Gly) c.779T>G (p.Val260Gly) c.263T>G (p.Val88Gly) n.400T>G c.929T>G (p.Val310Gly) c.926T>G (p.Val309Gly) c.791T>G (p.Val264Gly)
17	g.77482259G>A	CA501952114	SEPTIN9	c.783G>A (p.Val261=) c.837G>A (p.Val279=) c.345G>A (p.Val115=) n.141G>A n.886G>A c.84G>A (p.Val28=) c.816G>A (p.Val272=) c.501G>A (p.Val167=) c.165G>A (p.Val55=) c.196-5223G>A (n.196-5223G>A) c.288G>A (p.Val96=) c.780G>A (p.Val260=) c.264G>A (p.Val88=) n.401G>A c.930G>A (p.Val310=) c.927G>A (p.Val309=) c.792G>A (p.Val264=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.77482259G>C	CA501952115	SEPTIN9	c.783G>C (p.Val261=) c.837G>C (p.Val279=) c.345G>C (p.Val115=) n.141G>C n.886G>C c.84G>C (p.Val28=) c.816G>C (p.Val272=) c.501G>C (p.Val167=) c.165G>C (p.Val55=) c.196-5223G>C (n.196-5223G>C) c.288G>C (p.Val96=) c.780G>C (p.Val260=) c.264G>C (p.Val88=) n.401G>C c.930G>C (p.Val310=) c.927G>C (p.Val309=) c.792G>C (p.Val264=)
17	g.77482259G=	CA2276500439	SEPTIN9	c.783G= (p.Val261=) c.837G= (p.Val279=) c.345G= (p.Val115=) n.141G= n.886G= c.84G= (p.Val28=) c.816G= (p.Val272=) c.501G= (p.Val167=) c.165G= (p.Val55=) c.196-5223G= (n.196-5223G=) c.288G= (p.Val96=) c.780G= (p.Val260=) c.264G= (p.Val88=) n.401G= c.930G= (p.Val310=) c.927G= (p.Val309=) c.792G= (p.Val264=)
17	g.77482259G>T	CA501952116	SEPTIN9	c.783G>T (p.Val261=) c.837G>T (p.Val279=) c.345G>T (p.Val115=) n.141G>T n.886G>T c.84G>T (p.Val28=) c.816G>T (p.Val272=) c.501G>T (p.Val167=) c.165G>T (p.Val55=) c.196-5223G>T (n.196-5223G>T) c.288G>T (p.Val96=) c.780G>T (p.Val260=) c.264G>T (p.Val88=) n.401G>T c.930G>T (p.Val310=) c.927G>T (p.Val309=) c.792G>T (p.Val264=)
17	g.77482260G>A	CA401207909	SEPTIN9	c.784G>A (p.Gly262Arg) c.838G>A (p.Gly280Arg) c.346G>A (p.Gly116Arg) n.142G>A n.887G>A c.85G>A (p.Gly29Arg) c.817G>A (p.Gly273Arg) c.502G>A (p.Gly168Arg) c.166G>A (p.Gly56Arg) c.196-5222G>A (n.196-5222G>A) c.289G>A (p.Gly97Arg) c.781G>A (p.Gly261Arg) c.265G>A (p.Gly89Arg) n.402G>A c.931G>A (p.Gly311Arg) c.928G>A (p.Gly310Arg) c.793G>A (p.Gly265Arg)
17	g.77482260G>C	CA401207910	SEPTIN9	c.784G>C (p.Gly262Arg) c.838G>C (p.Gly280Arg) c.346G>C (p.Gly116Arg) n.142G>C n.887G>C c.85G>C (p.Gly29Arg) c.817G>C (p.Gly273Arg) c.502G>C (p.Gly168Arg) c.166G>C (p.Gly56Arg) c.196-5222G>C (n.196-5222G>C) c.289G>C (p.Gly97Arg) c.781G>C (p.Gly261Arg) c.265G>C (p.Gly89Arg) n.402G>C c.931G>C (p.Gly311Arg) c.928G>C (p.Gly310Arg) c.793G>C (p.Gly265Arg)
17	g.77482260G>T	CA401207908	SEPTIN9	c.784G>T (p.Gly262Trp) c.838G>T (p.Gly280Trp) c.346G>T (p.Gly116Trp) n.142G>T n.887G>T c.85G>T (p.Gly29Trp) c.817G>T (p.Gly273Trp) c.502G>T (p.Gly168Trp) c.166G>T (p.Gly56Trp) c.196-5222G>T (n.196-5222G>T) c.289G>T (p.Gly97Trp) c.781G>T (p.Gly261Trp) c.265G>T (p.Gly89Trp) n.402G>T c.931G>T (p.Gly311Trp) c.928G>T (p.Gly310Trp) c.793G>T (p.Gly265Trp)
17	g.77482261G>A	CA401207913	SEPTIN9	c.785G>A (p.Gly262Glu) c.839G>A (p.Gly280Glu) c.347G>A (p.Gly116Glu) n.143G>A n.888G>A c.86G>A (p.Gly29Glu) c.818G>A (p.Gly273Glu) c.503G>A (p.Gly168Glu) c.167G>A (p.Gly56Glu) c.196-5221G>A (n.196-5221G>A) c.290G>A (p.Gly97Glu) c.782G>A (p.Gly261Glu) c.266G>A (p.Gly89Glu) n.403G>A c.932G>A (p.Gly311Glu) c.929G>A (p.Gly310Glu) c.794G>A (p.Gly265Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.77482261G>C	CA401207911	SEPTIN9	c.785G>C (p.Gly262Ala) c.839G>C (p.Gly280Ala) c.347G>C (p.Gly116Ala) n.143G>C n.888G>C c.86G>C (p.Gly29Ala) c.818G>C (p.Gly273Ala) c.503G>C (p.Gly168Ala) c.167G>C (p.Gly56Ala) c.196-5221G>C (n.196-5221G>C) c.290G>C (p.Gly97Ala) c.782G>C (p.Gly261Ala) c.266G>C (p.Gly89Ala) n.403G>C c.932G>C (p.Gly311Ala) c.929G>C (p.Gly310Ala) c.794G>C (p.Gly265Ala)
17	g.77482261G=	CA2276500440	SEPTIN9	c.785G= (p.Gly262=) c.839G= (p.Gly280=) c.347G= (p.Gly116=) n.143G= n.888G= c.86G= (p.Gly29=) c.818G= (p.Gly273=) c.503G= (p.Gly168=) c.167G= (p.Gly56=) c.196-5221G= (n.196-5221G=) c.290G= (p.Gly97=) c.782G= (p.Gly261=) c.266G= (p.Gly89=) n.403G= c.932G= (p.Gly311=) c.929G= (p.Gly310=) c.794G= (p.Gly265=)
17	g.77482261G>T	CA401207912	SEPTIN9	c.785G>T (p.Gly262Val) c.839G>T (p.Gly280Val) c.347G>T (p.Gly116Val) n.143G>T n.888G>T c.86G>T (p.Gly29Val) c.818G>T (p.Gly273Val) c.503G>T (p.Gly168Val) c.167G>T (p.Gly56Val) c.196-5221G>T (n.196-5221G>T) c.290G>T (p.Gly97Val) c.782G>T (p.Gly261Val) c.266G>T (p.Gly89Val) n.403G>T c.932G>T (p.Gly311Val) c.929G>T (p.Gly310Val) c.794G>T (p.Gly265Val)
17	g.77482262G>A	CA501952119	SEPTIN9	c.786G>A (p.Gly262=) c.840G>A (p.Gly280=) c.348G>A (p.Gly116=) n.144G>A n.889G>A c.87G>A (p.Gly29=) c.819G>A (p.Gly273=) c.504G>A (p.Gly168=) c.168G>A (p.Gly56=) c.196-5220G>A (n.196-5220G>A) c.291G>A (p.Gly97=) c.783G>A (p.Gly261=) c.267G>A (p.Gly89=) n.404G>A c.933G>A (p.Gly311=) c.930G>A (p.Gly310=) c.795G>A (p.Gly265=)	gnomAD v4
17	g.77482262G>C	CA294293851	SEPTIN9	c.786G>C (p.Gly262=) c.840G>C (p.Gly280=) c.348G>C (p.Gly116=) n.144G>C n.889G>C c.87G>C (p.Gly29=) c.819G>C (p.Gly273=) c.504G>C (p.Gly168=) c.168G>C (p.Gly56=) c.196-5220G>C (n.196-5220G>C) c.291G>C (p.Gly97=) c.783G>C (p.Gly261=) c.267G>C (p.Gly89=) n.404G>C c.933G>C (p.Gly311=) c.930G>C (p.Gly310=) c.795G>C (p.Gly265=)	dbSNP gnomAD v2
17	g.77482262G=	CA2276500441	SEPTIN9	c.786G= (p.Gly262=) c.840G= (p.Gly280=) c.348G= (p.Gly116=) n.144G= n.889G= c.87G= (p.Gly29=) c.819G= (p.Gly273=) c.504G= (p.Gly168=) c.168G= (p.Gly56=) c.196-5220G= (n.196-5220G=) c.291G= (p.Gly97=) c.783G= (p.Gly261=) c.267G= (p.Gly89=) n.404G= c.933G= (p.Gly311=) c.930G= (p.Gly310=) c.795G= (p.Gly265=)
17	g.77482262G>T	CA501952120	SEPTIN9	c.786G>T (p.Gly262=) c.840G>T (p.Gly280=) c.348G>T (p.Gly116=) n.144G>T n.889G>T c.87G>T (p.Gly29=) c.819G>T (p.Gly273=) c.504G>T (p.Gly168=) c.168G>T (p.Gly56=) c.196-5220G>T (n.196-5220G>T) c.291G>T (p.Gly97=) c.783G>T (p.Gly261=) c.267G>T (p.Gly89=) n.404G>T c.933G>T (p.Gly311=) c.930G>T (p.Gly310=) c.795G>T (p.Gly265=)	dbSNP gnomAD v3 gnomAD v4
17	g.77482263A=	CA2276500442	SEPTIN9	c.787A= (p.Ile263=) c.841A= (p.Ile281=) c.349A= (p.Ile117=) n.145A= n.890A= c.88A= (p.Ile30=) c.820A= (p.Ile274=) c.505A= (p.Ile169=) c.169A= (p.Ile57=) c.196-5219A= (n.196-5219A=) c.292A= (p.Ile98=) c.784A= (p.Ile262=) c.268A= (p.Ile90=) n.405A= c.934A= (p.Ile312=) c.931A= (p.Ile311=) c.796A= (p.Ile266=)
17	g.77482263A>C	CA401207914	SEPTIN9	c.787A>C (p.Ile263Leu) c.841A>C (p.Ile281Leu) c.349A>C (p.Ile117Leu) n.145A>C n.890A>C c.88A>C (p.Ile30Leu) c.820A>C (p.Ile274Leu) c.505A>C (p.Ile169Leu) c.169A>C (p.Ile57Leu) c.196-5219A>C (n.196-5219A>C) c.292A>C (p.Ile98Leu) c.784A>C (p.Ile262Leu) c.268A>C (p.Ile90Leu) n.405A>C c.934A>C (p.Ile312Leu) c.931A>C (p.Ile311Leu) c.796A>C (p.Ile266Leu)
17	g.77482263A>G	CA401207915	SEPTIN9	c.787A>G (p.Ile263Val) c.841A>G (p.Ile281Val) c.349A>G (p.Ile117Val) n.145A>G n.890A>G c.88A>G (p.Ile30Val) c.820A>G (p.Ile274Val) c.505A>G (p.Ile169Val) c.169A>G (p.Ile57Val) c.196-5219A>G (n.196-5219A>G) c.292A>G (p.Ile98Val) c.784A>G (p.Ile262Val) c.268A>G (p.Ile90Val) n.405A>G c.934A>G (p.Ile312Val) c.931A>G (p.Ile311Val) c.796A>G (p.Ile266Val)	dbSNP gnomAD v2 gnomAD v4
17	g.77482263A>T	CA401207916	SEPTIN9	c.787A>T (p.Ile263Phe) c.841A>T (p.Ile281Phe) c.349A>T (p.Ile117Phe) n.145A>T n.890A>T c.88A>T (p.Ile30Phe) c.820A>T (p.Ile274Phe) c.505A>T (p.Ile169Phe) c.169A>T (p.Ile57Phe) c.196-5219A>T (n.196-5219A>T) c.292A>T (p.Ile98Phe) c.784A>T (p.Ile262Phe) c.268A>T (p.Ile90Phe) n.405A>T c.934A>T (p.Ile312Phe) c.931A>T (p.Ile311Phe) c.796A>T (p.Ile266Phe)
17	g.77482264T>A	CA401207917	SEPTIN9	c.788T>A (p.Ile263Asn) c.842T>A (p.Ile281Asn) c.350T>A (p.Ile117Asn) n.146T>A n.891T>A c.89T>A (p.Ile30Asn) c.821T>A (p.Ile274Asn) c.506T>A (p.Ile169Asn) c.170T>A (p.Ile57Asn) c.196-5218T>A (n.196-5218T>A) c.293T>A (p.Ile98Asn) c.785T>A (p.Ile262Asn) c.269T>A (p.Ile90Asn) n.406T>A c.935T>A (p.Ile312Asn) c.932T>A (p.Ile311Asn) c.797T>A (p.Ile266Asn)
17	g.77482264T>C	CA401207918	SEPTIN9	c.788T>C (p.Ile263Thr) c.842T>C (p.Ile281Thr) c.350T>C (p.Ile117Thr) n.146T>C n.891T>C c.89T>C (p.Ile30Thr) c.821T>C (p.Ile274Thr) c.506T>C (p.Ile169Thr) c.170T>C (p.Ile57Thr) c.196-5218T>C (n.196-5218T>C) c.293T>C (p.Ile98Thr) c.785T>C (p.Ile262Thr) c.269T>C (p.Ile90Thr) n.406T>C c.935T>C (p.Ile312Thr) c.932T>C (p.Ile311Thr) c.797T>C (p.Ile266Thr)
17	g.77482264T>G	CA401207919	SEPTIN9	c.788T>G (p.Ile263Ser) c.842T>G (p.Ile281Ser) c.350T>G (p.Ile117Ser) n.146T>G n.891T>G c.89T>G (p.Ile30Ser) c.821T>G (p.Ile274Ser) c.506T>G (p.Ile169Ser) c.170T>G (p.Ile57Ser) c.196-5218T>G (n.196-5218T>G) c.293T>G (p.Ile98Ser) c.785T>G (p.Ile262Ser) c.269T>G (p.Ile90Ser) n.406T>G c.935T>G (p.Ile312Ser) c.932T>G (p.Ile311Ser) c.797T>G (p.Ile266Ser)
17	g.77482265T>A	CA501952121	SEPTIN9	c.789T>A (p.Ile263=) c.843T>A (p.Ile281=) c.351T>A (p.Ile117=) n.147T>A n.892T>A c.90T>A (p.Ile30=) c.822T>A (p.Ile274=) c.507T>A (p.Ile169=) c.171T>A (p.Ile57=) c.196-5217T>A (n.196-5217T>A) c.294T>A (p.Ile98=) c.786T>A (p.Ile262=) c.270T>A (p.Ile90=) n.407T>A c.936T>A (p.Ile312=) c.933T>A (p.Ile311=) c.798T>A (p.Ile266=)
17	g.77482265T>C	CA501952122	SEPTIN9	c.789T>C (p.Ile263=) c.843T>C (p.Ile281=) c.351T>C (p.Ile117=) n.147T>C n.892T>C c.90T>C (p.Ile30=) c.822T>C (p.Ile274=) c.507T>C (p.Ile169=) c.171T>C (p.Ile57=) c.196-5217T>C (n.196-5217T>C) c.294T>C (p.Ile98=) c.786T>C (p.Ile262=) c.270T>C (p.Ile90=) n.407T>C c.936T>C (p.Ile312=) c.933T>C (p.Ile311=) c.798T>C (p.Ile266=)
17	g.77482265T>G	CA401207920	SEPTIN9	c.789T>G (p.Ile263Met) c.843T>G (p.Ile281Met) c.351T>G (p.Ile117Met) n.147T>G n.892T>G c.90T>G (p.Ile30Met) c.822T>G (p.Ile274Met) c.507T>G (p.Ile169Met) c.171T>G (p.Ile57Met) c.196-5217T>G (n.196-5217T>G) c.294T>G (p.Ile98Met) c.786T>G (p.Ile262Met) c.270T>G (p.Ile90Met) n.407T>G c.936T>G (p.Ile312Met) c.933T>G (p.Ile311Met) c.798T>G (p.Ile266Met)
17	g.77482266G>A	CA401207921	SEPTIN9	c.790G>A (p.Asp264Asn) c.844G>A (p.Asp282Asn) c.352G>A (p.Asp118Asn) n.148G>A n.893G>A c.91G>A (p.Asp31Asn) c.823G>A (p.Asp275Asn) c.508G>A (p.Asp170Asn) c.172G>A (p.Asp58Asn) c.196-5216G>A (n.196-5216G>A) c.295G>A (p.Asp99Asn) c.787G>A (p.Asp263Asn) c.271G>A (p.Asp91Asn) n.408G>A c.937G>A (p.Asp313Asn) c.934G>A (p.Asp312Asn) c.799G>A (p.Asp267Asn)
17	g.77482266G>C	CA401207922	SEPTIN9	c.790G>C (p.Asp264His) c.844G>C (p.Asp282His) c.352G>C (p.Asp118His) n.148G>C n.893G>C c.91G>C (p.Asp31His) c.823G>C (p.Asp275His) c.508G>C (p.Asp170His) c.172G>C (p.Asp58His) c.196-5216G>C (n.196-5216G>C) c.295G>C (p.Asp99His) c.787G>C (p.Asp263His) c.271G>C (p.Asp91His) n.408G>C c.937G>C (p.Asp313His) c.934G>C (p.Asp312His) c.799G>C (p.Asp267His)
17	g.77482266G>T	CA401207923	SEPTIN9	c.790G>T (p.Asp264Tyr) c.844G>T (p.Asp282Tyr) c.352G>T (p.Asp118Tyr) n.148G>T n.893G>T c.91G>T (p.Asp31Tyr) c.823G>T (p.Asp275Tyr) c.508G>T (p.Asp170Tyr) c.172G>T (p.Asp58Tyr) c.196-5216G>T (n.196-5216G>T) c.295G>T (p.Asp99Tyr) c.787G>T (p.Asp263Tyr) c.271G>T (p.Asp91Tyr) n.408G>T c.937G>T (p.Asp313Tyr) c.934G>T (p.Asp312Tyr) c.799G>T (p.Asp267Tyr)
17	g.77482267A>C	CA401207924	SEPTIN9	c.791A>C (p.Asp264Ala) c.845A>C (p.Asp282Ala) c.353A>C (p.Asp118Ala) n.149A>C n.894A>C c.92A>C (p.Asp31Ala) c.824A>C (p.Asp275Ala) c.509A>C (p.Asp170Ala) c.173A>C (p.Asp58Ala) c.196-5215A>C (n.196-5215A>C) c.296A>C (p.Asp99Ala) c.788A>C (p.Asp263Ala) c.272A>C (p.Asp91Ala) n.409A>C c.938A>C (p.Asp313Ala) c.935A>C (p.Asp312Ala) c.800A>C (p.Asp267Ala)
17	g.77482267A>G	CA401207926	SEPTIN9	c.791A>G (p.Asp264Gly) c.845A>G (p.Asp282Gly) c.353A>G (p.Asp118Gly) n.149A>G n.894A>G c.92A>G (p.Asp31Gly) c.824A>G (p.Asp275Gly) c.509A>G (p.Asp170Gly) c.173A>G (p.Asp58Gly) c.196-5215A>G (n.196-5215A>G) c.296A>G (p.Asp99Gly) c.788A>G (p.Asp263Gly) c.272A>G (p.Asp91Gly) n.409A>G c.938A>G (p.Asp313Gly) c.935A>G (p.Asp312Gly) c.800A>G (p.Asp267Gly)
17	g.77482267A>T	CA401207925	SEPTIN9	c.791A>T (p.Asp264Val) c.845A>T (p.Asp282Val) c.353A>T (p.Asp118Val) n.149A>T n.894A>T c.92A>T (p.Asp31Val) c.824A>T (p.Asp275Val) c.509A>T (p.Asp170Val) c.173A>T (p.Asp58Val) c.196-5215A>T (n.196-5215A>T) c.296A>T (p.Asp99Val) c.788A>T (p.Asp263Val) c.272A>T (p.Asp91Val) n.409A>T c.938A>T (p.Asp313Val) c.935A>T (p.Asp312Val) c.800A>T (p.Asp267Val)
17	g.77482268C>A	CA401207927	SEPTIN9	c.792C>A (p.Asp264Glu) c.846C>A (p.Asp282Glu) c.354C>A (p.Asp118Glu) n.150C>A n.895C>A c.93C>A (p.Asp31Glu) c.825C>A (p.Asp275Glu) c.510C>A (p.Asp170Glu) c.174C>A (p.Asp58Glu) c.196-5214C>A (n.196-5214C>A) c.297C>A (p.Asp99Glu) c.789C>A (p.Asp263Glu) c.273C>A (p.Asp91Glu) n.410C>A c.939C>A (p.Asp313Glu) c.936C>A (p.Asp312Glu) c.801C>A (p.Asp267Glu)
17	g.77482268C=	CA2276500443	SEPTIN9	c.792C= (p.Asp264=) c.846C= (p.Asp282=) c.354C= (p.Asp118=) n.150C= n.895C= c.93C= (p.Asp31=) c.825C= (p.Asp275=) c.510C= (p.Asp170=) c.174C= (p.Asp58=) c.196-5214C= (n.196-5214C=) c.297C= (p.Asp99=) c.789C= (p.Asp263=) c.273C= (p.Asp91=) n.410C= c.939C= (p.Asp313=) c.936C= (p.Asp312=) c.801C= (p.Asp267=)
17	g.77482268C>G	CA401207928	SEPTIN9	c.792C>G (p.Asp264Glu) c.846C>G (p.Asp282Glu) c.354C>G (p.Asp118Glu) n.150C>G n.895C>G c.93C>G (p.Asp31Glu) c.825C>G (p.Asp275Glu) c.510C>G (p.Asp170Glu) c.174C>G (p.Asp58Glu) c.196-5214C>G (n.196-5214C>G) c.297C>G (p.Asp99Glu) c.789C>G (p.Asp263Glu) c.273C>G (p.Asp91Glu) n.410C>G c.939C>G (p.Asp313Glu) c.936C>G (p.Asp312Glu) c.801C>G (p.Asp267Glu)
17	g.77482268C>T	CA501952124	SEPTIN9	c.792C>T (p.Asp264=) c.846C>T (p.Asp282=) c.354C>T (p.Asp118=) n.150C>T n.895C>T c.93C>T (p.Asp31=) c.825C>T (p.Asp275=) c.510C>T (p.Asp170=) c.174C>T (p.Asp58=) c.196-5214C>T (n.196-5214C>T) c.297C>T (p.Asp99=) c.789C>T (p.Asp263=) c.273C>T (p.Asp91=) n.410C>T c.939C>T (p.Asp313=) c.936C>T (p.Asp312=) c.801C>T (p.Asp267=)	dbSNP gnomAD v3 gnomAD v4
17	g.77482269T>A	CA401207929	SEPTIN9	c.793T>A (p.Ser265Thr) c.847T>A (p.Ser283Thr) c.355T>A (p.Ser119Thr) n.151T>A n.896T>A c.94T>A (p.Ser32Thr) c.826T>A (p.Ser276Thr) c.511T>A (p.Ser171Thr) c.175T>A (p.Ser59Thr) c.196-5213T>A (n.196-5213T>A) c.298T>A (p.Ser100Thr) c.790T>A (p.Ser264Thr) c.274T>A (p.Ser92Thr) n.411T>A c.940T>A (p.Ser314Thr) c.937T>A (p.Ser313Thr) c.802T>A (p.Ser268Thr)
17	g.77482269T>C	CA401207930	SEPTIN9	c.793T>C (p.Ser265Pro) c.847T>C (p.Ser283Pro) c.355T>C (p.Ser119Pro) n.151T>C n.896T>C c.94T>C (p.Ser32Pro) c.826T>C (p.Ser276Pro) c.511T>C (p.Ser171Pro) c.175T>C (p.Ser59Pro) c.196-5213T>C (n.196-5213T>C) c.298T>C (p.Ser100Pro) c.790T>C (p.Ser264Pro) c.274T>C (p.Ser92Pro) n.411T>C c.940T>C (p.Ser314Pro) c.937T>C (p.Ser313Pro) c.802T>C (p.Ser268Pro)
17	g.77482269T>G	CA401207931	SEPTIN9	c.793T>G (p.Ser265Ala) c.847T>G (p.Ser283Ala) c.355T>G (p.Ser119Ala) n.151T>G n.896T>G c.94T>G (p.Ser32Ala) c.826T>G (p.Ser276Ala) c.511T>G (p.Ser171Ala) c.175T>G (p.Ser59Ala) c.196-5213T>G (n.196-5213T>G) c.298T>G (p.Ser100Ala) c.790T>G (p.Ser264Ala) c.274T>G (p.Ser92Ala) n.411T>G c.940T>G (p.Ser314Ala) c.937T>G (p.Ser313Ala) c.802T>G (p.Ser268Ala)
17	g.77482270C>A	CA8793539	SEPTIN9	c.794C>A (p.Ser265Tyr) c.848C>A (p.Ser283Tyr) c.356C>A (p.Ser119Tyr) n.152C>A n.897C>A c.95C>A (p.Ser32Tyr) c.827C>A (p.Ser276Tyr) c.512C>A (p.Ser171Tyr) c.176C>A (p.Ser59Tyr) c.196-5212C>A (n.196-5212C>A) c.299C>A (p.Ser100Tyr) c.791C>A (p.Ser264Tyr) c.275C>A (p.Ser92Tyr) n.412C>A c.941C>A (p.Ser314Tyr) c.938C>A (p.Ser313Tyr) c.803C>A (p.Ser268Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482270C=	CA2276500444	SEPTIN9	c.794C= (p.Ser265=) c.848C= (p.Ser283=) c.356C= (p.Ser119=) n.152C= n.897C= c.95C= (p.Ser32=) c.827C= (p.Ser276=) c.512C= (p.Ser171=) c.176C= (p.Ser59=) c.196-5212C= (n.196-5212C=) c.299C= (p.Ser100=) c.791C= (p.Ser264=) c.275C= (p.Ser92=) n.412C= c.941C= (p.Ser314=) c.938C= (p.Ser313=) c.803C= (p.Ser268=)
17	g.77482270C>G	CA401207932	SEPTIN9	c.794C>G (p.Ser265Cys) c.848C>G (p.Ser283Cys) c.356C>G (p.Ser119Cys) n.152C>G n.897C>G c.95C>G (p.Ser32Cys) c.827C>G (p.Ser276Cys) c.512C>G (p.Ser171Cys) c.176C>G (p.Ser59Cys) c.196-5212C>G (n.196-5212C>G) c.299C>G (p.Ser100Cys) c.791C>G (p.Ser264Cys) c.275C>G (p.Ser92Cys) n.412C>G c.941C>G (p.Ser314Cys) c.938C>G (p.Ser313Cys) c.803C>G (p.Ser268Cys)
17	g.77482270C>T	CA401207933	SEPTIN9	c.794C>T (p.Ser265Phe) c.848C>T (p.Ser283Phe) c.356C>T (p.Ser119Phe) n.152C>T n.897C>T c.95C>T (p.Ser32Phe) c.827C>T (p.Ser276Phe) c.512C>T (p.Ser171Phe) c.176C>T (p.Ser59Phe) c.196-5212C>T (n.196-5212C>T) c.299C>T (p.Ser100Phe) c.791C>T (p.Ser264Phe) c.275C>T (p.Ser92Phe) n.412C>T c.941C>T (p.Ser314Phe) c.938C>T (p.Ser313Phe) c.803C>T (p.Ser268Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.77482271C>A	CA501952127	SEPTIN9	c.795C>A (p.Ser265=) c.849C>A (p.Ser283=) c.357C>A (p.Ser119=) n.153C>A n.898C>A c.96C>A (p.Ser32=) c.828C>A (p.Ser276=) c.513C>A (p.Ser171=) c.177C>A (p.Ser59=) c.196-5211C>A (n.196-5211C>A) c.300C>A (p.Ser100=) c.792C>A (p.Ser264=) c.276C>A (p.Ser92=) n.413C>A c.942C>A (p.Ser314=) c.939C>A (p.Ser313=) c.804C>A (p.Ser268=)
17	g.77482271C>G	CA501952126	SEPTIN9	c.795C>G (p.Ser265=) c.849C>G (p.Ser283=) c.357C>G (p.Ser119=) n.153C>G n.898C>G c.96C>G (p.Ser32=) c.828C>G (p.Ser276=) c.513C>G (p.Ser171=) c.177C>G (p.Ser59=) c.196-5211C>G (n.196-5211C>G) c.300C>G (p.Ser100=) c.792C>G (p.Ser264=) c.276C>G (p.Ser92=) n.413C>G c.942C>G (p.Ser314=) c.939C>G (p.Ser313=) c.804C>G (p.Ser268=)
17	g.77482271C>T	CA501952125	SEPTIN9	c.795C>T (p.Ser265=) c.849C>T (p.Ser283=) c.357C>T (p.Ser119=) n.153C>T n.898C>T c.96C>T (p.Ser32=) c.828C>T (p.Ser276=) c.513C>T (p.Ser171=) c.177C>T (p.Ser59=) c.196-5211C>T (n.196-5211C>T) c.300C>T (p.Ser100=) c.792C>T (p.Ser264=) c.276C>T (p.Ser92=) n.413C>T c.942C>T (p.Ser314=) c.939C>T (p.Ser313=) c.804C>T (p.Ser268=)
17	g.77482272A=	CA2276500445	SEPTIN9	c.796A= (p.Ile266=) c.850A= (p.Ile284=) c.358A= (p.Ile120=) n.154A= n.899A= c.97A= (p.Ile33=) c.829A= (p.Ile277=) c.514A= (p.Ile172=) c.178A= (p.Ile60=) c.196-5210A= (n.196-5210A=) c.301A= (p.Ile101=) c.793A= (p.Ile265=) c.277A= (p.Ile93=) n.414A= c.943A= (p.Ile315=) c.940A= (p.Ile314=) c.805A= (p.Ile269=)
17	g.77482272A>C	CA401207934	SEPTIN9	c.796A>C (p.Ile266Leu) c.850A>C (p.Ile284Leu) c.358A>C (p.Ile120Leu) n.154A>C n.899A>C c.97A>C (p.Ile33Leu) c.829A>C (p.Ile277Leu) c.514A>C (p.Ile172Leu) c.178A>C (p.Ile60Leu) c.196-5210A>C (n.196-5210A>C) c.301A>C (p.Ile101Leu) c.793A>C (p.Ile265Leu) c.277A>C (p.Ile93Leu) n.414A>C c.943A>C (p.Ile315Leu) c.940A>C (p.Ile314Leu) c.805A>C (p.Ile269Leu)
17	g.77482272A>G	CA401207935	SEPTIN9	c.796A>G (p.Ile266Val) c.850A>G (p.Ile284Val) c.358A>G (p.Ile120Val) n.154A>G n.899A>G c.97A>G (p.Ile33Val) c.829A>G (p.Ile277Val) c.514A>G (p.Ile172Val) c.178A>G (p.Ile60Val) c.196-5210A>G (n.196-5210A>G) c.301A>G (p.Ile101Val) c.793A>G (p.Ile265Val) c.277A>G (p.Ile93Val) n.414A>G c.943A>G (p.Ile315Val) c.940A>G (p.Ile314Val) c.805A>G (p.Ile269Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482272A>T	CA401207936	SEPTIN9	c.796A>T (p.Ile266Phe) c.850A>T (p.Ile284Phe) c.358A>T (p.Ile120Phe) n.154A>T n.899A>T c.97A>T (p.Ile33Phe) c.829A>T (p.Ile277Phe) c.514A>T (p.Ile172Phe) c.178A>T (p.Ile60Phe) c.196-5210A>T (n.196-5210A>T) c.301A>T (p.Ile101Phe) c.793A>T (p.Ile265Phe) c.277A>T (p.Ile93Phe) n.414A>T c.943A>T (p.Ile315Phe) c.940A>T (p.Ile314Phe) c.805A>T (p.Ile269Phe)
17	g.77482273T>A	CA401207938	SEPTIN9	c.797T>A (p.Ile266Asn) c.851T>A (p.Ile284Asn) c.359T>A (p.Ile120Asn) n.155T>A n.900T>A c.98T>A (p.Ile33Asn) c.830T>A (p.Ile277Asn) c.515T>A (p.Ile172Asn) c.179T>A (p.Ile60Asn) c.196-5209T>A (n.196-5209T>A) c.302T>A (p.Ile101Asn) c.794T>A (p.Ile265Asn) c.278T>A (p.Ile93Asn) n.415T>A c.944T>A (p.Ile315Asn) c.941T>A (p.Ile314Asn) c.806T>A (p.Ile269Asn)
17	g.77482273T>C	CA401207939	SEPTIN9	c.797T>C (p.Ile266Thr) c.851T>C (p.Ile284Thr) c.359T>C (p.Ile120Thr) n.155T>C n.900T>C c.98T>C (p.Ile33Thr) c.830T>C (p.Ile277Thr) c.515T>C (p.Ile172Thr) c.179T>C (p.Ile60Thr) c.196-5209T>C (n.196-5209T>C) c.302T>C (p.Ile101Thr) c.794T>C (p.Ile265Thr) c.278T>C (p.Ile93Thr) n.415T>C c.944T>C (p.Ile315Thr) c.941T>C (p.Ile314Thr) c.806T>C (p.Ile269Thr)
17	g.77482273T>G	CA401207937	SEPTIN9	c.797T>G (p.Ile266Ser) c.851T>G (p.Ile284Ser) c.359T>G (p.Ile120Ser) n.155T>G n.900T>G c.98T>G (p.Ile33Ser) c.830T>G (p.Ile277Ser) c.515T>G (p.Ile172Ser) c.179T>G (p.Ile60Ser) c.196-5209T>G (n.196-5209T>G) c.302T>G (p.Ile101Ser) c.794T>G (p.Ile265Ser) c.278T>G (p.Ile93Ser) n.415T>G c.944T>G (p.Ile315Ser) c.941T>G (p.Ile314Ser) c.806T>G (p.Ile269Ser)
17	g.77482274C>A	CA501952129	SEPTIN9	c.798C>A (p.Ile266=) c.852C>A (p.Ile284=) c.360C>A (p.Ile120=) n.156C>A n.901C>A c.99C>A (p.Ile33=) c.831C>A (p.Ile277=) c.516C>A (p.Ile172=) c.180C>A (p.Ile60=) c.196-5208C>A (n.196-5208C>A) c.303C>A (p.Ile101=) c.795C>A (p.Ile265=) c.279C>A (p.Ile93=) n.416C>A c.945C>A (p.Ile315=) c.942C>A (p.Ile314=) c.807C>A (p.Ile269=)
17	g.77482274C>G	CA401207940	SEPTIN9	c.798C>G (p.Ile266Met) c.852C>G (p.Ile284Met) c.360C>G (p.Ile120Met) n.156C>G n.901C>G c.99C>G (p.Ile33Met) c.831C>G (p.Ile277Met) c.516C>G (p.Ile172Met) c.180C>G (p.Ile60Met) c.196-5208C>G (n.196-5208C>G) c.303C>G (p.Ile101Met) c.795C>G (p.Ile265Met) c.279C>G (p.Ile93Met) n.416C>G c.945C>G (p.Ile315Met) c.942C>G (p.Ile314Met) c.807C>G (p.Ile269Met)
17	g.77482274C>T	CA501952128	SEPTIN9	c.798C>T (p.Ile266=) c.852C>T (p.Ile284=) c.360C>T (p.Ile120=) n.156C>T n.901C>T c.99C>T (p.Ile33=) c.831C>T (p.Ile277=) c.516C>T (p.Ile172=) c.180C>T (p.Ile60=) c.196-5208C>T (n.196-5208C>T) c.303C>T (p.Ile101=) c.795C>T (p.Ile265=) c.279C>T (p.Ile93=) n.416C>T c.945C>T (p.Ile315=) c.942C>T (p.Ile314=) c.807C>T (p.Ile269=)	gnomAD v4
17	g.77482275C>A	CA401207941	SEPTIN9	c.799C>A (p.Leu267Met) c.853C>A (p.Leu285Met) c.361C>A (p.Leu121Met) n.157C>A n.902C>A c.100C>A (p.Leu34Met) c.832C>A (p.Leu278Met) c.517C>A (p.Leu173Met) c.181C>A (p.Leu61Met) c.196-5207C>A (n.196-5207C>A) c.304C>A (p.Leu102Met) c.796C>A (p.Leu266Met) c.280C>A (p.Leu94Met) n.417C>A c.946C>A (p.Leu316Met) c.943C>A (p.Leu315Met) c.808C>A (p.Leu270Met)
17	g.77482275C>G	CA401207942	SEPTIN9	c.799C>G (p.Leu267Val) c.853C>G (p.Leu285Val) c.361C>G (p.Leu121Val) n.157C>G n.902C>G c.100C>G (p.Leu34Val) c.832C>G (p.Leu278Val) c.517C>G (p.Leu173Val) c.181C>G (p.Leu61Val) c.196-5207C>G (n.196-5207C>G) c.304C>G (p.Leu102Val) c.796C>G (p.Leu266Val) c.280C>G (p.Leu94Val) n.417C>G c.946C>G (p.Leu316Val) c.943C>G (p.Leu315Val) c.808C>G (p.Leu270Val)
17	g.77482275C>T	CA501952130	SEPTIN9	c.799C>T (p.Leu267=) c.853C>T (p.Leu285=) c.361C>T (p.Leu121=) n.157C>T n.902C>T c.100C>T (p.Leu34=) c.832C>T (p.Leu278=) c.517C>T (p.Leu173=) c.181C>T (p.Leu61=) c.196-5207C>T (n.196-5207C>T) c.304C>T (p.Leu102=) c.796C>T (p.Leu266=) c.280C>T (p.Leu94=) n.417C>T c.946C>T (p.Leu316=) c.943C>T (p.Leu315=) c.808C>T (p.Leu270=)
17	g.77482276T>A	CA401207943	SEPTIN9	c.800T>A (p.Leu267Gln) c.854T>A (p.Leu285Gln) c.362T>A (p.Leu121Gln) n.158T>A n.903T>A c.101T>A (p.Leu34Gln) c.833T>A (p.Leu278Gln) c.518T>A (p.Leu173Gln) c.182T>A (p.Leu61Gln) c.196-5206T>A (n.196-5206T>A) c.305T>A (p.Leu102Gln) c.797T>A (p.Leu266Gln) c.281T>A (p.Leu94Gln) n.418T>A c.947T>A (p.Leu316Gln) c.944T>A (p.Leu315Gln) c.809T>A (p.Leu270Gln)
17	g.77482276T>C	CA401207944	SEPTIN9	c.800T>C (p.Leu267Pro) c.854T>C (p.Leu285Pro) c.362T>C (p.Leu121Pro) n.158T>C n.903T>C c.101T>C (p.Leu34Pro) c.833T>C (p.Leu278Pro) c.518T>C (p.Leu173Pro) c.182T>C (p.Leu61Pro) c.196-5206T>C (n.196-5206T>C) c.305T>C (p.Leu102Pro) c.797T>C (p.Leu266Pro) c.281T>C (p.Leu94Pro) n.418T>C c.947T>C (p.Leu316Pro) c.944T>C (p.Leu315Pro) c.809T>C (p.Leu270Pro)
17	g.77482276T>G	CA401207945	SEPTIN9	c.800T>G (p.Leu267Arg) c.854T>G (p.Leu285Arg) c.362T>G (p.Leu121Arg) n.158T>G n.903T>G c.101T>G (p.Leu34Arg) c.833T>G (p.Leu278Arg) c.518T>G (p.Leu173Arg) c.182T>G (p.Leu61Arg) c.196-5206T>G (n.196-5206T>G) c.305T>G (p.Leu102Arg) c.797T>G (p.Leu266Arg) c.281T>G (p.Leu94Arg) n.418T>G c.947T>G (p.Leu316Arg) c.944T>G (p.Leu315Arg) c.809T>G (p.Leu270Arg)
17	g.77482277G>A	CA501952132	SEPTIN9	c.801G>A (p.Leu267=) c.855G>A (p.Leu285=) c.363G>A (p.Leu121=) n.159G>A n.904G>A c.102G>A (p.Leu34=) c.834G>A (p.Leu278=) c.519G>A (p.Leu173=) c.183G>A (p.Leu61=) c.196-5205G>A (n.196-5205G>A) c.306G>A (p.Leu102=) c.798G>A (p.Leu266=) c.282G>A (p.Leu94=) n.419G>A c.948G>A (p.Leu316=) c.945G>A (p.Leu315=) c.810G>A (p.Leu270=)	dbSNP gnomAD v2 gnomAD v4
17	g.77482277G>C	CA501952134	SEPTIN9	c.801G>C (p.Leu267=) c.855G>C (p.Leu285=) c.363G>C (p.Leu121=) n.159G>C n.904G>C c.102G>C (p.Leu34=) c.834G>C (p.Leu278=) c.519G>C (p.Leu173=) c.183G>C (p.Leu61=) c.196-5205G>C (n.196-5205G>C) c.306G>C (p.Leu102=) c.798G>C (p.Leu266=) c.282G>C (p.Leu94=) n.419G>C c.948G>C (p.Leu316=) c.945G>C (p.Leu315=) c.810G>C (p.Leu270=)
17	g.77482277G=	CA2276500446	SEPTIN9	c.801G= (p.Leu267=) c.855G= (p.Leu285=) c.363G= (p.Leu121=) n.159G= n.904G= c.102G= (p.Leu34=) c.834G= (p.Leu278=) c.519G= (p.Leu173=) c.183G= (p.Leu61=) c.196-5205G= (n.196-5205G=) c.306G= (p.Leu102=) c.798G= (p.Leu266=) c.282G= (p.Leu94=) n.419G= c.948G= (p.Leu316=) c.945G= (p.Leu315=) c.810G= (p.Leu270=)
17	g.77482277G>T	CA501952133	SEPTIN9	c.801G>T (p.Leu267=) c.855G>T (p.Leu285=) c.363G>T (p.Leu121=) n.159G>T n.904G>T c.102G>T (p.Leu34=) c.834G>T (p.Leu278=) c.519G>T (p.Leu173=) c.183G>T (p.Leu61=) c.196-5205G>T (n.196-5205G>T) c.306G>T (p.Leu102=) c.798G>T (p.Leu266=) c.282G>T (p.Leu94=) n.419G>T c.948G>T (p.Leu316=) c.945G>T (p.Leu315=) c.810G>T (p.Leu270=)
17	g.77482278G>A	CA401207946	SEPTIN9	c.802G>A (p.Glu268Lys) c.856G>A (p.Glu286Lys) c.364G>A (p.Glu122Lys) n.160G>A n.905G>A c.103G>A (p.Glu35Lys) c.835G>A (p.Glu279Lys) c.520G>A (p.Glu174Lys) c.184G>A (p.Glu62Lys) c.196-5204G>A (n.196-5204G>A) c.307G>A (p.Glu103Lys) c.799G>A (p.Glu267Lys) c.283G>A (p.Glu95Lys) n.420G>A c.949G>A (p.Glu317Lys) c.946G>A (p.Glu316Lys) c.811G>A (p.Glu271Lys)
17	g.77482278G>C	CA401207947	SEPTIN9	c.802G>C (p.Glu268Gln) c.856G>C (p.Glu286Gln) c.364G>C (p.Glu122Gln) n.160G>C n.905G>C c.103G>C (p.Glu35Gln) c.835G>C (p.Glu279Gln) c.520G>C (p.Glu174Gln) c.184G>C (p.Glu62Gln) c.196-5204G>C (n.196-5204G>C) c.307G>C (p.Glu103Gln) c.799G>C (p.Glu267Gln) c.283G>C (p.Glu95Gln) n.420G>C c.949G>C (p.Glu317Gln) c.946G>C (p.Glu316Gln) c.811G>C (p.Glu271Gln)
17	g.77482278G>T	CA401207948	SEPTIN9	c.802G>T (p.Glu268Ter) c.856G>T (p.Glu286Ter) c.364G>T (p.Glu122Ter) n.160G>T n.905G>T c.103G>T (p.Glu35Ter) c.835G>T (p.Glu279Ter) c.520G>T (p.Glu174Ter) c.184G>T (p.Glu62Ter) c.196-5204G>T (n.196-5204G>T) c.307G>T (p.Glu103Ter) c.799G>T (p.Glu267Ter) c.283G>T (p.Glu95Ter) n.420G>T c.949G>T (p.Glu317Ter) c.946G>T (p.Glu316Ter) c.811G>T (p.Glu271Ter)
17	g.77482279A>C	CA401207949	SEPTIN9	c.803A>C (p.Glu268Ala) c.857A>C (p.Glu286Ala) c.365A>C (p.Glu122Ala) n.161A>C n.906A>C c.104A>C (p.Glu35Ala) c.836A>C (p.Glu279Ala) c.521A>C (p.Glu174Ala) c.185A>C (p.Glu62Ala) c.196-5203A>C (n.196-5203A>C) c.308A>C (p.Glu103Ala) c.800A>C (p.Glu267Ala) c.284A>C (p.Glu95Ala) n.421A>C c.950A>C (p.Glu317Ala) c.947A>C (p.Glu316Ala) c.812A>C (p.Glu271Ala)
17	g.77482279A>G	CA401207950	SEPTIN9	c.803A>G (p.Glu268Gly) c.857A>G (p.Glu286Gly) c.365A>G (p.Glu122Gly) n.161A>G n.906A>G c.104A>G (p.Glu35Gly) c.836A>G (p.Glu279Gly) c.521A>G (p.Glu174Gly) c.185A>G (p.Glu62Gly) c.196-5203A>G (n.196-5203A>G) c.308A>G (p.Glu103Gly) c.800A>G (p.Glu267Gly) c.284A>G (p.Glu95Gly) n.421A>G c.950A>G (p.Glu317Gly) c.947A>G (p.Glu316Gly) c.812A>G (p.Glu271Gly)
17	g.77482279A>T	CA401207951	SEPTIN9	c.803A>T (p.Glu268Val) c.857A>T (p.Glu286Val) c.365A>T (p.Glu122Val) n.161A>T n.906A>T c.104A>T (p.Glu35Val) c.836A>T (p.Glu279Val) c.521A>T (p.Glu174Val) c.185A>T (p.Glu62Val) c.196-5203A>T (n.196-5203A>T) c.308A>T (p.Glu103Val) c.800A>T (p.Glu267Val) c.284A>T (p.Glu95Val) n.421A>T c.950A>T (p.Glu317Val) c.947A>T (p.Glu316Val) c.812A>T (p.Glu271Val)
17	g.77482280G>A	CA501952135	SEPTIN9	c.804G>A (p.Glu268=) c.858G>A (p.Glu286=) c.366G>A (p.Glu122=) n.162G>A n.907G>A c.105G>A (p.Glu35=) c.837G>A (p.Glu279=) c.522G>A (p.Glu174=) c.186G>A (p.Glu62=) c.196-5202G>A (n.196-5202G>A) c.309G>A (p.Glu103=) c.801G>A (p.Glu267=) c.285G>A (p.Glu95=) n.422G>A c.951G>A (p.Glu317=) c.948G>A (p.Glu316=) c.813G>A (p.Glu271=)	gnomAD v4
17	g.77482280G>C	CA401207952	SEPTIN9	c.804G>C (p.Glu268Asp) c.858G>C (p.Glu286Asp) c.366G>C (p.Glu122Asp) n.162G>C n.907G>C c.105G>C (p.Glu35Asp) c.837G>C (p.Glu279Asp) c.522G>C (p.Glu174Asp) c.186G>C (p.Glu62Asp) c.196-5202G>C (n.196-5202G>C) c.309G>C (p.Glu103Asp) c.801G>C (p.Glu267Asp) c.285G>C (p.Glu95Asp) n.422G>C c.951G>C (p.Glu317Asp) c.948G>C (p.Glu316Asp) c.813G>C (p.Glu271Asp)
17	g.77482280G=	CA2276500447	SEPTIN9	c.804G= (p.Glu268=) c.858G= (p.Glu286=) c.366G= (p.Glu122=) n.162G= n.907G= c.105G= (p.Glu35=) c.837G= (p.Glu279=) c.522G= (p.Glu174=) c.186G= (p.Glu62=) c.196-5202G= (n.196-5202G=) c.309G= (p.Glu103=) c.801G= (p.Glu267=) c.285G= (p.Glu95=) n.422G= c.951G= (p.Glu317=) c.948G= (p.Glu316=) c.813G= (p.Glu271=)
17	g.77482280G>T	CA8793540	SEPTIN9	c.804G>T (p.Glu268Asp) c.858G>T (p.Glu286Asp) c.366G>T (p.Glu122Asp) n.162G>T n.907G>T c.105G>T (p.Glu35Asp) c.837G>T (p.Glu279Asp) c.522G>T (p.Glu174Asp) c.186G>T (p.Glu62Asp) c.196-5202G>T (n.196-5202G>T) c.309G>T (p.Glu103Asp) c.801G>T (p.Glu267Asp) c.285G>T (p.Glu95Asp) n.422G>T c.951G>T (p.Glu317Asp) c.948G>T (p.Glu316Asp) c.813G>T (p.Glu271Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482281C>A	CA401207955	SEPTIN9	c.805C>A (p.Gln269Lys) c.859C>A (p.Gln287Lys) c.367C>A (p.Gln123Lys) n.163C>A n.908C>A c.106C>A (p.Gln36Lys) c.838C>A (p.Gln280Lys) c.523C>A (p.Gln175Lys) c.187C>A (p.Gln63Lys) c.196-5201C>A (n.196-5201C>A) c.310C>A (p.Gln104Lys) c.802C>A (p.Gln268Lys) c.286C>A (p.Gln96Lys) n.423C>A c.952C>A (p.Gln318Lys) c.949C>A (p.Gln317Lys) c.814C>A (p.Gln272Lys)
17	g.77482281C>G	CA401207954	SEPTIN9	c.805C>G (p.Gln269Glu) c.859C>G (p.Gln287Glu) c.367C>G (p.Gln123Glu) n.163C>G n.908C>G c.106C>G (p.Gln36Glu) c.838C>G (p.Gln280Glu) c.523C>G (p.Gln175Glu) c.187C>G (p.Gln63Glu) c.196-5201C>G (n.196-5201C>G) c.310C>G (p.Gln104Glu) c.802C>G (p.Gln268Glu) c.286C>G (p.Gln96Glu) n.423C>G c.952C>G (p.Gln318Glu) c.949C>G (p.Gln317Glu) c.814C>G (p.Gln272Glu)
17	g.77482281C>T	CA401207953	SEPTIN9	c.805C>T (p.Gln269Ter) c.859C>T (p.Gln287Ter) c.367C>T (p.Gln123Ter) n.163C>T n.908C>T c.106C>T (p.Gln36Ter) c.838C>T (p.Gln280Ter) c.523C>T (p.Gln175Ter) c.187C>T (p.Gln63Ter) c.196-5201C>T (n.196-5201C>T) c.310C>T (p.Gln104Ter) c.802C>T (p.Gln268Ter) c.286C>T (p.Gln96Ter) n.423C>T c.952C>T (p.Gln318Ter) c.949C>T (p.Gln317Ter) c.814C>T (p.Gln272Ter)
17	g.77482282A>C	CA401207956	SEPTIN9	c.806A>C (p.Gln269Pro) c.860A>C (p.Gln287Pro) c.368A>C (p.Gln123Pro) n.164A>C n.909A>C c.107A>C (p.Gln36Pro) c.839A>C (p.Gln280Pro) c.524A>C (p.Gln175Pro) c.188A>C (p.Gln63Pro) c.196-5200A>C (n.196-5200A>C) c.311A>C (p.Gln104Pro) c.803A>C (p.Gln268Pro) c.287A>C (p.Gln96Pro) n.424A>C c.953A>C (p.Gln318Pro) c.950A>C (p.Gln317Pro) c.815A>C (p.Gln272Pro)
17	g.77482282A>G	CA401207957	SEPTIN9	c.806A>G (p.Gln269Arg) c.860A>G (p.Gln287Arg) c.368A>G (p.Gln123Arg) n.164A>G n.909A>G c.107A>G (p.Gln36Arg) c.839A>G (p.Gln280Arg) c.524A>G (p.Gln175Arg) c.188A>G (p.Gln63Arg) c.196-5200A>G (n.196-5200A>G) c.311A>G (p.Gln104Arg) c.803A>G (p.Gln268Arg) c.287A>G (p.Gln96Arg) n.424A>G c.953A>G (p.Gln318Arg) c.950A>G (p.Gln317Arg) c.815A>G (p.Gln272Arg)
17	g.77482282A>T	CA401207958	SEPTIN9	c.806A>T (p.Gln269Leu) c.860A>T (p.Gln287Leu) c.368A>T (p.Gln123Leu) n.164A>T n.909A>T c.107A>T (p.Gln36Leu) c.839A>T (p.Gln280Leu) c.524A>T (p.Gln175Leu) c.188A>T (p.Gln63Leu) c.196-5200A>T (n.196-5200A>T) c.311A>T (p.Gln104Leu) c.803A>T (p.Gln268Leu) c.287A>T (p.Gln96Leu) n.424A>T c.953A>T (p.Gln318Leu) c.950A>T (p.Gln317Leu) c.815A>T (p.Gln272Leu)
17	g.77482283G>A	CA501952136	SEPTIN9	c.807G>A (p.Gln269=) c.861G>A (p.Gln287=) c.369G>A (p.Gln123=) n.165G>A n.910G>A c.108G>A (p.Gln36=) c.840G>A (p.Gln280=) c.525G>A (p.Gln175=) c.189G>A (p.Gln63=) c.196-5199G>A (n.196-5199G>A) c.312G>A (p.Gln104=) c.804G>A (p.Gln268=) c.288G>A (p.Gln96=) n.425G>A c.954G>A (p.Gln318=) c.951G>A (p.Gln317=) c.816G>A (p.Gln272=)
17	g.77482283G>C	CA401207959	SEPTIN9	c.807G>C (p.Gln269His) c.861G>C (p.Gln287His) c.369G>C (p.Gln123His) n.165G>C n.910G>C c.108G>C (p.Gln36His) c.840G>C (p.Gln280His) c.525G>C (p.Gln175His) c.189G>C (p.Gln63His) c.196-5199G>C (n.196-5199G>C) c.312G>C (p.Gln104His) c.804G>C (p.Gln268His) c.288G>C (p.Gln96His) n.425G>C c.954G>C (p.Gln318His) c.951G>C (p.Gln317His) c.816G>C (p.Gln272His)
17	g.77482283G>T	CA401207960	SEPTIN9	c.807G>T (p.Gln269His) c.861G>T (p.Gln287His) c.369G>T (p.Gln123His) n.165G>T n.910G>T c.108G>T (p.Gln36His) c.840G>T (p.Gln280His) c.525G>T (p.Gln175His) c.189G>T (p.Gln63His) c.196-5199G>T (n.196-5199G>T) c.312G>T (p.Gln104His) c.804G>T (p.Gln268His) c.288G>T (p.Gln96His) n.425G>T c.954G>T (p.Gln318His) c.951G>T (p.Gln317His) c.816G>T (p.Gln272His)
17	g.77482284A>C	CA401207961	SEPTIN9	c.808A>C (p.Met270Leu) c.862A>C (p.Met288Leu) c.370A>C (p.Met124Leu) n.166A>C n.911A>C c.109A>C (p.Met37Leu) c.841A>C (p.Met281Leu) c.526A>C (p.Met176Leu) c.190A>C (p.Met64Leu) c.196-5198A>C (n.196-5198A>C) c.313A>C (p.Met105Leu) c.805A>C (p.Met269Leu) c.289A>C (p.Met97Leu) n.426A>C c.955A>C (p.Met319Leu) c.952A>C (p.Met318Leu) c.817A>C (p.Met273Leu)
17	g.77482284A>G	CA401207962	SEPTIN9	c.808A>G (p.Met270Val) c.862A>G (p.Met288Val) c.370A>G (p.Met124Val) n.166A>G n.911A>G c.109A>G (p.Met37Val) c.841A>G (p.Met281Val) c.526A>G (p.Met176Val) c.190A>G (p.Met64Val) c.196-5198A>G (n.196-5198A>G) c.313A>G (p.Met105Val) c.805A>G (p.Met269Val) c.289A>G (p.Met97Val) n.426A>G c.955A>G (p.Met319Val) c.952A>G (p.Met318Val) c.817A>G (p.Met273Val)
17	g.77482284A>T	CA401207963	SEPTIN9	c.808A>T (p.Met270Leu) c.862A>T (p.Met288Leu) c.370A>T (p.Met124Leu) n.166A>T n.911A>T c.109A>T (p.Met37Leu) c.841A>T (p.Met281Leu) c.526A>T (p.Met176Leu) c.190A>T (p.Met64Leu) c.196-5198A>T (n.196-5198A>T) c.313A>T (p.Met105Leu) c.805A>T (p.Met269Leu) c.289A>T (p.Met97Leu) n.426A>T c.955A>T (p.Met319Leu) c.952A>T (p.Met318Leu) c.817A>T (p.Met273Leu)
17	g.77482285T>A	CA401207964	SEPTIN9	c.809T>A (p.Met270Lys) c.863T>A (p.Met288Lys) c.371T>A (p.Met124Lys) n.167T>A n.912T>A c.110T>A (p.Met37Lys) c.842T>A (p.Met281Lys) c.527T>A (p.Met176Lys) c.191T>A (p.Met64Lys) c.196-5197T>A (n.196-5197T>A) c.314T>A (p.Met105Lys) c.806T>A (p.Met269Lys) c.290T>A (p.Met97Lys) n.427T>A c.956T>A (p.Met319Lys) c.953T>A (p.Met318Lys) c.818T>A (p.Met273Lys)
17	g.77482285T>C	CA8793541	SEPTIN9	c.809T>C (p.Met270Thr) c.863T>C (p.Met288Thr) c.371T>C (p.Met124Thr) n.167T>C n.912T>C c.110T>C (p.Met37Thr) c.842T>C (p.Met281Thr) c.527T>C (p.Met176Thr) c.191T>C (p.Met64Thr) c.196-5197T>C (n.196-5197T>C) c.314T>C (p.Met105Thr) c.806T>C (p.Met269Thr) c.290T>C (p.Met97Thr) n.427T>C c.956T>C (p.Met319Thr) c.953T>C (p.Met318Thr) c.818T>C (p.Met273Thr)	dbSNP ExAC gnomAD v2
17	g.77482285T>G	CA401207965	SEPTIN9	c.809T>G (p.Met270Arg) c.863T>G (p.Met288Arg) c.371T>G (p.Met124Arg) n.167T>G n.912T>G c.110T>G (p.Met37Arg) c.842T>G (p.Met281Arg) c.527T>G (p.Met176Arg) c.191T>G (p.Met64Arg) c.196-5197T>G (n.196-5197T>G) c.314T>G (p.Met105Arg) c.806T>G (p.Met269Arg) c.290T>G (p.Met97Arg) n.427T>G c.956T>G (p.Met319Arg) c.953T>G (p.Met318Arg) c.818T>G (p.Met273Arg)
17	g.77482285T=	CA2276500448	SEPTIN9	c.809T= (p.Met270=) c.863T= (p.Met288=) c.371T= (p.Met124=) n.167T= n.912T= c.110T= (p.Met37=) c.842T= (p.Met281=) c.527T= (p.Met176=) c.191T= (p.Met64=) c.196-5197T= (n.196-5197T=) c.314T= (p.Met105=) c.806T= (p.Met269=) c.290T= (p.Met97=) n.427T= c.956T= (p.Met319=) c.953T= (p.Met318=) c.818T= (p.Met273=)
17	g.77482286G>A	CA401207966	SEPTIN9	c.810G>A (p.Met270Ile) c.864G>A (p.Met288Ile) c.372G>A (p.Met124Ile) n.168G>A n.913G>A c.111G>A (p.Met37Ile) c.843G>A (p.Met281Ile) c.528G>A (p.Met176Ile) c.192G>A (p.Met64Ile) c.196-5196G>A (n.196-5196G>A) c.315G>A (p.Met105Ile) c.807G>A (p.Met269Ile) c.291G>A (p.Met97Ile) n.428G>A c.957G>A (p.Met319Ile) c.954G>A (p.Met318Ile) c.819G>A (p.Met273Ile)
17	g.77482286G>C	CA401207967	SEPTIN9	c.810G>C (p.Met270Ile) c.864G>C (p.Met288Ile) c.372G>C (p.Met124Ile) n.168G>C n.913G>C c.111G>C (p.Met37Ile) c.843G>C (p.Met281Ile) c.528G>C (p.Met176Ile) c.192G>C (p.Met64Ile) c.196-5196G>C (n.196-5196G>C) c.315G>C (p.Met105Ile) c.807G>C (p.Met269Ile) c.291G>C (p.Met97Ile) n.428G>C c.957G>C (p.Met319Ile) c.954G>C (p.Met318Ile) c.819G>C (p.Met273Ile)
17	g.77482286G>T	CA401207968	SEPTIN9	c.810G>T (p.Met270Ile) c.864G>T (p.Met288Ile) c.372G>T (p.Met124Ile) n.168G>T n.913G>T c.111G>T (p.Met37Ile) c.843G>T (p.Met281Ile) c.528G>T (p.Met176Ile) c.192G>T (p.Met64Ile) c.196-5196G>T (n.196-5196G>T) c.315G>T (p.Met105Ile) c.807G>T (p.Met269Ile) c.291G>T (p.Met97Ile) n.428G>T c.957G>T (p.Met319Ile) c.954G>T (p.Met318Ile) c.819G>T (p.Met273Ile)
17	g.77482287C>A	CA401207970	SEPTIN9	c.811C>A (p.Arg271Ser) c.865C>A (p.Arg289Ser) c.373C>A (p.Arg125Ser) n.169C>A n.914C>A c.112C>A (p.Arg38Ser) c.844C>A (p.Arg282Ser) c.529C>A (p.Arg177Ser) c.193C>A (p.Arg65Ser) c.196-5195C>A (n.196-5195C>A) c.316C>A (p.Arg106Ser) c.808C>A (p.Arg270Ser) c.292C>A (p.Arg98Ser) n.429C>A c.958C>A (p.Arg320Ser) c.955C>A (p.Arg319Ser) c.820C>A (p.Arg274Ser)
17	g.77482287C=	CA2276500449	SEPTIN9	c.811C= (p.Arg271=) c.865C= (p.Arg289=) c.373C= (p.Arg125=) n.169C= n.914C= c.112C= (p.Arg38=) c.844C= (p.Arg282=) c.529C= (p.Arg177=) c.193C= (p.Arg65=) c.196-5195C= (n.196-5195C=) c.316C= (p.Arg106=) c.808C= (p.Arg270=) c.292C= (p.Arg98=) n.429C= c.958C= (p.Arg320=) c.955C= (p.Arg319=) c.820C= (p.Arg274=)
17	g.77482287C>G	CA401207971	SEPTIN9	c.811C>G (p.Arg271Gly) c.865C>G (p.Arg289Gly) c.373C>G (p.Arg125Gly) n.169C>G n.914C>G c.112C>G (p.Arg38Gly) c.844C>G (p.Arg282Gly) c.529C>G (p.Arg177Gly) c.193C>G (p.Arg65Gly) c.196-5195C>G (n.196-5195C>G) c.316C>G (p.Arg106Gly) c.808C>G (p.Arg270Gly) c.292C>G (p.Arg98Gly) n.429C>G c.958C>G (p.Arg320Gly) c.955C>G (p.Arg319Gly) c.820C>G (p.Arg274Gly)
17	g.77482287C>T	CA401207969	SEPTIN9	c.811C>T (p.Arg271Cys) c.865C>T (p.Arg289Cys) c.373C>T (p.Arg125Cys) n.169C>T n.914C>T c.112C>T (p.Arg38Cys) c.844C>T (p.Arg282Cys) c.529C>T (p.Arg177Cys) c.193C>T (p.Arg65Cys) c.196-5195C>T (n.196-5195C>T) c.316C>T (p.Arg106Cys) c.808C>T (p.Arg270Cys) c.292C>T (p.Arg98Cys) n.429C>T c.958C>T (p.Arg320Cys) c.955C>T (p.Arg319Cys) c.820C>T (p.Arg274Cys)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
17	g.77482288G>A	CA270926	SEPTIN9	c.812G>A (p.Arg271His) c.866G>A (p.Arg289His) c.374G>A (p.Arg125His) n.170G>A n.915G>A c.113G>A (p.Arg38His) c.845G>A (p.Arg282His) c.530G>A (p.Arg177His) c.194G>A (p.Arg65His) c.196-5194G>A (n.196-5194G>A) c.317G>A (p.Arg106His) c.809G>A (p.Arg270His) c.293G>A (p.Arg98His) n.430G>A c.959G>A (p.Arg320His) c.956G>A (p.Arg319His) c.821G>A (p.Arg274His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.77482288G>C	CA401207972	SEPTIN9	c.812G>C (p.Arg271Pro) c.866G>C (p.Arg289Pro) c.374G>C (p.Arg125Pro) n.170G>C n.915G>C c.113G>C (p.Arg38Pro) c.845G>C (p.Arg282Pro) c.530G>C (p.Arg177Pro) c.194G>C (p.Arg65Pro) c.196-5194G>C (n.196-5194G>C) c.317G>C (p.Arg106Pro) c.809G>C (p.Arg270Pro) c.293G>C (p.Arg98Pro) n.430G>C c.959G>C (p.Arg320Pro) c.956G>C (p.Arg319Pro) c.821G>C (p.Arg274Pro)
17	g.77482288G=	CA2276500450	SEPTIN9	c.812G= (p.Arg271=) c.866G= (p.Arg289=) c.374G= (p.Arg125=) n.170G= n.915G= c.113G= (p.Arg38=) c.845G= (p.Arg282=) c.530G= (p.Arg177=) c.194G= (p.Arg65=) c.196-5194G= (n.196-5194G=) c.317G= (p.Arg106=) c.809G= (p.Arg270=) c.293G= (p.Arg98=) n.430G= c.959G= (p.Arg320=) c.956G= (p.Arg319=) c.821G= (p.Arg274=)
17	g.77482288G>T	CA401207973	SEPTIN9	c.812G>T (p.Arg271Leu) c.866G>T (p.Arg289Leu) c.374G>T (p.Arg125Leu) n.170G>T n.915G>T c.113G>T (p.Arg38Leu) c.845G>T (p.Arg282Leu) c.530G>T (p.Arg177Leu) c.194G>T (p.Arg65Leu) c.196-5194G>T (n.196-5194G>T) c.317G>T (p.Arg106Leu) c.809G>T (p.Arg270Leu) c.293G>T (p.Arg98Leu) n.430G>T c.959G>T (p.Arg320Leu) c.956G>T (p.Arg319Leu) c.821G>T (p.Arg274Leu)	gnomAD v4

Number of alleles fetched