Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
4	g.1001736_1001753delinsTGCGGCTGGGAGGCCCCG	CA1433067807	IDUA	c.647_664delinsTGCGGCTGGGAGGCCCCG (p.Leu216=) n.703_720delinsTGCGGCTGGGAGGCCCCG c.506_523delinsTGCGGCTGGGAGGCCCCG (p.Leu169=) c.440_457delinsTGCGGCTGGGAGGCCCCG (p.Leu147=) c.464_481delinsTGCGGCTGGGAGGCCCCG (p.Leu155=) c.251_268delinsTGCGGCTGGGAGGCCCCG (p.Leu84=) n.547_564delinsTGCGGCTGGGAGGCCCCG n.735_752delinsTGCGGCTGGGAGGCCCCG c.359_376delinsTGCGGCTGGGAGGCCCCG (p.Leu120=) n.716_733delinsTGCGGCTGGGAGGCCCCG c.-314_-297delinsTGCGGCTGGGAGGCCCCG (n.-314_-297delinsTGCGGCTGGGAGGCCCCG)
4	g.1001740_1001756del	CA549264505	IDUA	c.651_667del (p.Gly219LeufsTer?) n.707_723del c.510_526del (p.Gly172LeufsTer?) c.444_460del (p.Gly150LeufsTer?) c.468_484del (p.Gly158LeufsTer?) c.255_271del (p.Gly87LeufsTer?) n.551_567del n.739_755del c.363_379del (p.Gly123LeufsTer?) n.720_736del c.-310_-294del (n.-310_-294del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001742T>A	CA355962002	IDUA	c.653T>A (p.Leu218Gln) n.709T>A c.512T>A (p.Leu171Gln) c.446T>A (p.Leu149Gln) c.470T>A (p.Leu157Gln) c.257T>A (p.Leu86Gln) n.553T>A n.741T>A c.365T>A (p.Leu122Gln) n.722T>A c.-308T>A (n.-308T>A)
4	g.1001742T>C	CA356986	IDUA	c.653T>C (p.Leu218Pro) n.709T>C c.512T>C (p.Leu171Pro) c.446T>C (p.Leu149Pro) c.470T>C (p.Leu157Pro) c.257T>C (p.Leu86Pro) n.553T>C n.741T>C c.365T>C (p.Leu122Pro) n.722T>C c.-308T>C (n.-308T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001742T>G	CA355962001	IDUA	c.653T>G (p.Leu218Arg) n.709T>G c.512T>G (p.Leu171Arg) c.446T>G (p.Leu149Arg) c.470T>G (p.Leu157Arg) c.257T>G (p.Leu86Arg) n.553T>G n.741T>G c.365T>G (p.Leu122Arg) n.722T>G c.-308T>G (n.-308T>G)
4	g.1001742T=	CA1433067823	IDUA	c.653T= (p.Leu218=) n.709T= c.512T= (p.Leu171=) c.446T= (p.Leu149=) c.470T= (p.Leu157=) c.257T= (p.Leu86=) n.553T= n.741T= c.365T= (p.Leu122=) n.722T= c.-308T= (n.-308T=)
4	g.1001743G>A	CA438057267	IDUA	c.654G>A (p.Leu218=) n.710G>A c.513G>A (p.Leu171=) c.447G>A (p.Leu149=) c.471G>A (p.Leu157=) c.258G>A (p.Leu86=) n.554G>A n.742G>A c.366G>A (p.Leu122=) n.723G>A c.-307G>A (n.-307G>A)	ClinVar gnomAD v4
4	g.1001743G>C	CA438057268	IDUA	c.654G>C (p.Leu218=) n.710G>C c.513G>C (p.Leu171=) c.447G>C (p.Leu149=) c.471G>C (p.Leu157=) c.258G>C (p.Leu86=) n.554G>C n.742G>C c.366G>C (p.Leu122=) n.723G>C c.-307G>C (n.-307G>C)
4	g.1001743G>T	CA438057269	IDUA	c.654G>T (p.Leu218=) n.710G>T c.513G>T (p.Leu171=) c.447G>T (p.Leu149=) c.471G>T (p.Leu157=) c.258G>T (p.Leu86=) n.554G>T n.742G>T c.366G>T (p.Leu122=) n.723G>T c.-307G>T (n.-307G>T)	gnomAD v4
4	g.1001745dup	CA2586965940	IDUA	c.656dup (p.Gly220ArgfsTer?) n.712dup c.515dup (p.Gly173ArgfsTer?) c.449dup (p.Gly151ArgfsTer?) c.473dup (p.Gly159ArgfsTer?) c.260dup (p.Gly88ArgfsTer?) n.556dup n.744dup c.368dup (p.Gly124ArgfsTer?) n.725dup c.-305dup (n.-305dup)
4	g.1001744G>A	CA355962003	IDUA	c.655G>A (p.Gly219Arg) n.711G>A c.514G>A (p.Gly172Arg) c.448G>A (p.Gly150Arg) c.472G>A (p.Gly158Arg) c.259G>A (p.Gly87Arg) n.555G>A n.743G>A c.367G>A (p.Gly123Arg) n.724G>A c.-306G>A (n.-306G>A)	ClinVar gnomAD v4
4	g.1001744G>C	CA355962004	IDUA	c.655G>C (p.Gly219Arg) n.711G>C c.514G>C (p.Gly172Arg) c.448G>C (p.Gly150Arg) c.472G>C (p.Gly158Arg) c.259G>C (p.Gly87Arg) n.555G>C n.743G>C c.367G>C (p.Gly123Arg) n.724G>C c.-306G>C (n.-306G>C)	ClinVar gnomAD v4
4	g.1001744G>T	CA355962005	IDUA	c.655G>T (p.Gly219Ter) n.711G>T c.514G>T (p.Gly172Ter) c.448G>T (p.Gly150Ter) c.472G>T (p.Gly158Ter) c.259G>T (p.Gly87Ter) n.555G>T n.743G>T c.367G>T (p.Gly123Ter) n.724G>T c.-306G>T (n.-306G>T)	gnomAD v4
4	g.1001745G>A	CA355962006	IDUA	c.656G>A (p.Gly219Glu) n.712G>A c.515G>A (p.Gly172Glu) c.449G>A (p.Gly150Glu) c.473G>A (p.Gly158Glu) c.260G>A (p.Gly87Glu) n.556G>A n.744G>A c.368G>A (p.Gly123Glu) n.725G>A c.-305G>A (n.-305G>A)	dbSNP
4	g.1001745G>C	CA355962007	IDUA	c.656G>C (p.Gly219Ala) n.712G>C c.515G>C (p.Gly172Ala) c.449G>C (p.Gly150Ala) c.473G>C (p.Gly158Ala) c.260G>C (p.Gly87Ala) n.556G>C n.744G>C c.368G>C (p.Gly123Ala) n.725G>C c.-305G>C (n.-305G>C)	dbSNP gnomAD v3 gnomAD v4
4	g.1001745G=	CA1433067828	IDUA	c.656G= (p.Gly219=) n.712G= c.515G= (p.Gly172=) c.449G= (p.Gly150=) c.473G= (p.Gly158=) c.260G= (p.Gly87=) n.556G= n.744G= c.368G= (p.Gly123=) n.725G= c.-305G= (n.-305G=)
4	g.1001745G>T	CA355962008	IDUA	c.656G>T (p.Gly219Val) n.712G>T c.515G>T (p.Gly172Val) c.449G>T (p.Gly150Val) c.473G>T (p.Gly158Val) c.260G>T (p.Gly87Val) n.556G>T n.744G>T c.368G>T (p.Gly123Val) n.725G>T c.-305G>T (n.-305G>T)
4	g.1001746del	CA2586965941	IDUA	c.657del (p.Gly220AlafsTer14) n.713del c.516del (p.Gly173AlafsTer14) c.450del (p.Gly151AlafsTer14) c.474del (p.Gly159AlafsTer14) c.261del (p.Gly88AlafsTer14) n.557del n.745del c.369del (p.Gly124AlafsTer14) n.726del c.-304del (n.-304del)
4	g.1001746A=	CA1433067833	IDUA	c.657A= (p.Gly219=) n.713A= c.516A= (p.Gly172=) c.450A= (p.Gly150=) c.474A= (p.Gly158=) c.261A= (p.Gly87=) n.557A= n.745A= c.369A= (p.Gly123=) n.726A= c.-304A= (n.-304A=)
4	g.1001746A>C	CA438057270	IDUA	c.657A>C (p.Gly219=) n.713A>C c.516A>C (p.Gly172=) c.450A>C (p.Gly150=) c.474A>C (p.Gly158=) c.261A>C (p.Gly87=) n.557A>C n.745A>C c.369A>C (p.Gly123=) n.726A>C c.-304A>C (n.-304A>C)	gnomAD v4
4	g.1001746A>G	CA2802044	IDUA	c.657A>G (p.Gly219=) n.713A>G c.516A>G (p.Gly172=) c.450A>G (p.Gly150=) c.474A>G (p.Gly158=) c.261A>G (p.Gly87=) n.557A>G n.745A>G c.369A>G (p.Gly123=) n.726A>G c.-304A>G (n.-304A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001746A>T	CA438057271	IDUA	c.657A>T (p.Gly219=) n.713A>T c.516A>T (p.Gly172=) c.450A>T (p.Gly150=) c.474A>T (p.Gly158=) c.261A>T (p.Gly87=) n.557A>T n.745A>T c.369A>T (p.Gly123=) n.726A>T c.-304A>T (n.-304A>T)
4	g.1001746_1001747delinsAG	CA1433067832	IDUA	c.657_658delinsAG (p.Gly219=) n.713_714delinsAG c.516_517delinsAG (p.Gly172=) c.450_451delinsAG (p.Gly150=) c.474_475delinsAG (p.Gly158=) c.261_262delinsAG (p.Gly87=) n.557_558delinsAG n.745_746delinsAG c.369_370delinsAG (p.Gly123=) n.726_727delinsAG c.-304_-303delinsAG (n.-304_-303delinsAG)
4	g.1001747G>A	CA355962009	IDUA	c.658G>A (p.Gly220Ser) n.714G>A c.517G>A (p.Gly173Ser) c.451G>A (p.Gly151Ser) c.475G>A (p.Gly159Ser) c.262G>A (p.Gly88Ser) n.558G>A n.746G>A c.370G>A (p.Gly124Ser) n.727G>A c.-303G>A (n.-303G>A)
4	g.1001747G>C	CA355962010	IDUA	c.658G>C (p.Gly220Arg) n.714G>C c.517G>C (p.Gly173Arg) c.451G>C (p.Gly151Arg) c.475G>C (p.Gly159Arg) c.262G>C (p.Gly88Arg) n.558G>C n.746G>C c.370G>C (p.Gly124Arg) n.727G>C c.-303G>C (n.-303G>C)
4	g.1001747G>T	CA355962011	IDUA	c.658G>T (p.Gly220Cys) n.714G>T c.517G>T (p.Gly173Cys) c.451G>T (p.Gly151Cys) c.475G>T (p.Gly159Cys) c.262G>T (p.Gly88Cys) n.558G>T n.746G>T c.370G>T (p.Gly124Cys) n.727G>T c.-303G>T (n.-303G>T)
4	g.1001748del	CA2802045	IDUA	c.659del (p.Gly220AlafsTer14) n.715del c.518del (p.Gly173AlafsTer14) c.452del (p.Gly151AlafsTer14) c.476del (p.Gly159AlafsTer14) c.263del (p.Gly88AlafsTer14) n.559del n.747del c.371del (p.Gly124AlafsTer14) n.728del c.-302del (n.-302del)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001748G>A	CA355962012	IDUA	c.659G>A (p.Gly220Asp) n.715G>A c.518G>A (p.Gly173Asp) c.452G>A (p.Gly151Asp) c.476G>A (p.Gly159Asp) c.263G>A (p.Gly88Asp) n.559G>A n.747G>A c.371G>A (p.Gly124Asp) n.728G>A c.-302G>A (n.-302G>A)	dbSNP gnomAD v2 gnomAD v4
4	g.1001748G>C	CA355962013	IDUA	c.659G>C (p.Gly220Ala) n.715G>C c.518G>C (p.Gly173Ala) c.452G>C (p.Gly151Ala) c.476G>C (p.Gly159Ala) c.263G>C (p.Gly88Ala) n.559G>C n.747G>C c.371G>C (p.Gly124Ala) n.728G>C c.-302G>C (n.-302G>C)
4	g.1001748G=	CA1433067838	IDUA	c.659G= (p.Gly220=) n.715G= c.518G= (p.Gly173=) c.452G= (p.Gly151=) c.476G= (p.Gly159=) c.263G= (p.Gly88=) n.559G= n.747G= c.371G= (p.Gly124=) n.728G= c.-302G= (n.-302G=)
4	g.1001748G>T	CA355962014	IDUA	c.659G>T (p.Gly220Val) n.715G>T c.518G>T (p.Gly173Val) c.452G>T (p.Gly151Val) c.476G>T (p.Gly159Val) c.263G>T (p.Gly88Val) n.559G>T n.747G>T c.371G>T (p.Gly124Val) n.728G>T c.-302G>T (n.-302G>T)	dbSNP gnomAD v2 gnomAD v4
4	g.1001749C>A	CA438057273	IDUA	c.660C>A (p.Gly220=) n.716C>A c.519C>A (p.Gly173=) c.453C>A (p.Gly151=) c.477C>A (p.Gly159=) c.264C>A (p.Gly88=) n.560C>A n.748C>A c.372C>A (p.Gly124=) n.729C>A c.-301C>A (n.-301C>A)	ClinVar gnomAD v4
4	g.1001749C=	CA1433067845	IDUA	c.660C= (p.Gly220=) n.716C= c.519C= (p.Gly173=) c.453C= (p.Gly151=) c.477C= (p.Gly159=) c.264C= (p.Gly88=) n.560C= n.748C= c.372C= (p.Gly124=) n.729C= c.-301C= (n.-301C=)
4	g.1001749C>G	CA2802046	IDUA	c.660C>G (p.Gly220=) n.716C>G c.519C>G (p.Gly173=) c.453C>G (p.Gly151=) c.477C>G (p.Gly159=) c.264C>G (p.Gly88=) n.560C>G n.748C>G c.372C>G (p.Gly124=) n.729C>G c.-301C>G (n.-301C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001749C>T	CA2802047	IDUA	c.660C>T (p.Gly220=) n.716C>T c.519C>T (p.Gly173=) c.453C>T (p.Gly151=) c.477C>T (p.Gly159=) c.264C>T (p.Gly88=) n.560C>T n.748C>T c.372C>T (p.Gly124=) n.729C>T c.-301C>T (n.-301C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001752del	CA2580070652	IDUA	c.663del (p.Gly222AlafsTer12) n.719del c.522del (p.Gly175AlafsTer12) c.456del (p.Gly153AlafsTer12) c.480del (p.Gly161AlafsTer12) c.267del (p.Gly90AlafsTer12) n.563del n.751del c.375del (p.Gly126AlafsTer12) n.732del c.-298del (n.-298del)	ClinVar gnomAD v4
4	g.1001750C>A	CA355962015	IDUA	c.661C>A (p.Pro221Thr) n.717C>A c.520C>A (p.Pro174Thr) c.454C>A (p.Pro152Thr) c.478C>A (p.Pro160Thr) c.265C>A (p.Pro89Thr) n.561C>A n.749C>A c.373C>A (p.Pro125Thr) n.730C>A c.-300C>A (n.-300C>A)
4	g.1001750C=	CA1433067849	IDUA	c.661C= (p.Pro221=) n.717C= c.520C= (p.Pro174=) c.454C= (p.Pro152=) c.478C= (p.Pro160=) c.265C= (p.Pro89=) n.561C= n.749C= c.373C= (p.Pro125=) n.730C= c.-300C= (n.-300C=)
4	g.1001750C>G	CA355962016	IDUA	c.661C>G (p.Pro221Ala) n.717C>G c.520C>G (p.Pro174Ala) c.454C>G (p.Pro152Ala) c.478C>G (p.Pro160Ala) c.265C>G (p.Pro89Ala) n.561C>G n.749C>G c.373C>G (p.Pro125Ala) n.730C>G c.-300C>G (n.-300C>G)	dbSNP
4	g.1001750C>T	CA355962017	IDUA	c.661C>T (p.Pro221Ser) n.717C>T c.520C>T (p.Pro174Ser) c.454C>T (p.Pro152Ser) c.478C>T (p.Pro160Ser) c.265C>T (p.Pro89Ser) n.561C>T n.749C>T c.373C>T (p.Pro125Ser) n.730C>T c.-300C>T (n.-300C>T)
4	g.1001751C>A	CA355962018	IDUA	c.662C>A (p.Pro221His) n.718C>A c.521C>A (p.Pro174His) c.455C>A (p.Pro152His) c.479C>A (p.Pro160His) c.266C>A (p.Pro89His) n.562C>A n.750C>A c.374C>A (p.Pro125His) n.731C>A c.-299C>A (n.-299C>A)	gnomAD v4
4	g.1001751C>G	CA355962019	IDUA	c.662C>G (p.Pro221Arg) n.718C>G c.521C>G (p.Pro174Arg) c.455C>G (p.Pro152Arg) c.479C>G (p.Pro160Arg) c.266C>G (p.Pro89Arg) n.562C>G n.750C>G c.374C>G (p.Pro125Arg) n.731C>G c.-299C>G (n.-299C>G)
4	g.1001751C>T	CA355962020	IDUA	c.662C>T (p.Pro221Leu) n.718C>T c.521C>T (p.Pro174Leu) c.455C>T (p.Pro152Leu) c.479C>T (p.Pro160Leu) c.266C>T (p.Pro89Leu) n.562C>T n.750C>T c.374C>T (p.Pro125Leu) n.731C>T c.-299C>T (n.-299C>T)
4	g.1001752C>A	CA438057274	IDUA	c.663C>A (p.Pro221=) n.719C>A c.522C>A (p.Pro174=) c.456C>A (p.Pro152=) c.480C>A (p.Pro160=) c.267C>A (p.Pro89=) n.563C>A n.751C>A c.375C>A (p.Pro125=) n.732C>A c.-298C>A (n.-298C>A)	gnomAD v4
4	g.1001752C=	CA1433067857	IDUA	c.663C= (p.Pro221=) n.719C= c.522C= (p.Pro174=) c.456C= (p.Pro152=) c.480C= (p.Pro160=) c.267C= (p.Pro89=) n.563C= n.751C= c.375C= (p.Pro125=) n.732C= c.-298C= (n.-298C=)
4	g.1001752C>G	CA2802048	IDUA	c.663C>G (p.Pro221=) n.719C>G c.522C>G (p.Pro174=) c.456C>G (p.Pro152=) c.480C>G (p.Pro160=) c.267C>G (p.Pro89=) n.563C>G n.751C>G c.375C>G (p.Pro125=) n.732C>G c.-298C>G (n.-298C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001752C>T	CA438057275	IDUA	c.663C>T (p.Pro221=) n.719C>T c.522C>T (p.Pro174=) c.456C>T (p.Pro152=) c.480C>T (p.Pro160=) c.267C>T (p.Pro89=) n.563C>T n.751C>T c.375C>T (p.Pro125=) n.732C>T c.-298C>T (n.-298C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001752_1001753dup	CA2573052264	IDUA	c.663_664dup (p.Gly222AlafsTer13) n.719_720dup c.522_523dup (p.Gly175AlafsTer13) c.456_457dup (p.Gly153AlafsTer13) c.480_481dup (p.Gly161AlafsTer13) c.267_268dup (p.Gly90AlafsTer13) n.563_564dup n.751_752dup c.375_376dup (p.Gly126AlafsTer13) n.732_733dup c.-298_-297dup (n.-298_-297dup)	dbSNP gnomAD v4
4	g.1001754_1001756dup	CA2586965942	IDUA	c.665_667dup (p.Gly222_Asp223insGly) n.721_723dup c.524_526dup (p.Gly175_Asp176insGly) c.458_460dup (p.Gly153_Asp154insGly) c.482_484dup (p.Gly161_Asp162insGly) c.269_271dup (p.Gly90_Asp91insGly) n.565_567dup n.753_755dup c.377_379dup (p.Gly126_Asp127insGly) n.734_736dup c.-296_-294dup (n.-296_-294dup)
4	g.1001753G>A	CA355962021	IDUA	c.664G>A (p.Gly222Ser) n.720G>A c.523G>A (p.Gly175Ser) c.457G>A (p.Gly153Ser) c.481G>A (p.Gly161Ser) c.268G>A (p.Gly90Ser) n.564G>A n.752G>A c.376G>A (p.Gly126Ser) n.733G>A c.-297G>A (n.-297G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001753G>C	CA355962023	IDUA	c.664G>C (p.Gly222Arg) n.720G>C c.523G>C (p.Gly175Arg) c.457G>C (p.Gly153Arg) c.481G>C (p.Gly161Arg) c.268G>C (p.Gly90Arg) n.564G>C n.752G>C c.376G>C (p.Gly126Arg) n.733G>C c.-297G>C (n.-297G>C)
4	g.1001753G=	CA1433067866	IDUA	c.664G= (p.Gly222=) n.720G= c.523G= (p.Gly175=) c.457G= (p.Gly153=) c.481G= (p.Gly161=) c.268G= (p.Gly90=) n.564G= n.752G= c.376G= (p.Gly126=) n.733G= c.-297G= (n.-297G=)
4	g.1001753G>T	CA355962022	IDUA	c.664G>T (p.Gly222Cys) n.720G>T c.523G>T (p.Gly175Cys) c.457G>T (p.Gly153Cys) c.481G>T (p.Gly161Cys) c.268G>T (p.Gly90Cys) n.564G>T n.752G>T c.376G>T (p.Gly126Cys) n.733G>T c.-297G>T (n.-297G>T)	ClinVar dbSNP gnomAD v4
4	g.1001754G>A	CA355962024	IDUA	c.665G>A (p.Gly222Asp) n.721G>A c.524G>A (p.Gly175Asp) c.458G>A (p.Gly153Asp) c.482G>A (p.Gly161Asp) c.269G>A (p.Gly90Asp) n.565G>A n.753G>A c.377G>A (p.Gly126Asp) n.734G>A c.-296G>A (n.-296G>A)	gnomAD v4
4	g.1001754G>C	CA355962025	IDUA	c.665G>C (p.Gly222Ala) n.721G>C c.524G>C (p.Gly175Ala) c.458G>C (p.Gly153Ala) c.482G>C (p.Gly161Ala) c.269G>C (p.Gly90Ala) n.565G>C n.753G>C c.377G>C (p.Gly126Ala) n.734G>C c.-296G>C (n.-296G>C)
4	g.1001754G>T	CA355962026	IDUA	c.665G>T (p.Gly222Val) n.721G>T c.524G>T (p.Gly175Val) c.458G>T (p.Gly153Val) c.482G>T (p.Gly161Val) c.269G>T (p.Gly90Val) n.565G>T n.753G>T c.377G>T (p.Gly126Val) n.734G>T c.-296G>T (n.-296G>T)	gnomAD v4
4	g.1001755C>A	CA91167839	IDUA	c.666C>A (p.Gly222=) n.722C>A c.525C>A (p.Gly175=) c.459C>A (p.Gly153=) c.483C>A (p.Gly161=) c.270C>A (p.Gly90=) n.566C>A n.754C>A c.378C>A (p.Gly126=) n.735C>A c.-295C>A (n.-295C>A)	dbSNP gnomAD v4
4	g.1001755C=	CA1433067869	IDUA	c.666C= (p.Gly222=) n.722C= c.525C= (p.Gly175=) c.459C= (p.Gly153=) c.483C= (p.Gly161=) c.270C= (p.Gly90=) n.566C= n.754C= c.378C= (p.Gly126=) n.735C= c.-295C= (n.-295C=)
4	g.1001755C>G	CA438057279	IDUA	c.666C>G (p.Gly222=) n.722C>G c.525C>G (p.Gly175=) c.459C>G (p.Gly153=) c.483C>G (p.Gly161=) c.270C>G (p.Gly90=) n.566C>G n.754C>G c.378C>G (p.Gly126=) n.735C>G c.-295C>G (n.-295C>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001755C>T	CA2802049	IDUA	c.666C>T (p.Gly222=) n.722C>T c.525C>T (p.Gly175=) c.459C>T (p.Gly153=) c.483C>T (p.Gly161=) c.270C>T (p.Gly90=) n.566C>T n.754C>T c.378C>T (p.Gly126=) n.735C>T c.-295C>T (n.-295C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001756_1001760del	CA2586965943	IDUA	c.667_671del (p.Asp223LeufsTer?) n.723_727del c.526_530del (p.Asp176LeufsTer?) c.460_464del (p.Asp154LeufsTer?) c.484_488del (p.Asp162LeufsTer?) c.271_275del (p.Asp91LeufsTer?) n.567_571del n.755_759del c.379_383del (p.Asp127LeufsTer?) n.736_740del c.-294_-290del (n.-294_-290del)
4	g.1001756G>A	CA2802050	IDUA	c.667G>A (p.Asp223Asn) n.723G>A c.526G>A (p.Asp176Asn) c.460G>A (p.Asp154Asn) c.484G>A (p.Asp162Asn) c.271G>A (p.Asp91Asn) n.567G>A n.755G>A c.379G>A (p.Asp127Asn) n.736G>A c.-294G>A (n.-294G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001756G>C	CA355962027	IDUA	c.667G>C (p.Asp223His) n.723G>C c.526G>C (p.Asp176His) c.460G>C (p.Asp154His) c.484G>C (p.Asp162His) c.271G>C (p.Asp91His) n.567G>C n.755G>C c.379G>C (p.Asp127His) n.736G>C c.-294G>C (n.-294G>C)
4	g.1001756G=	CA1433067877	IDUA	c.667G= (p.Asp223=) n.723G= c.526G= (p.Asp176=) c.460G= (p.Asp154=) c.484G= (p.Asp162=) c.271G= (p.Asp91=) n.567G= n.755G= c.379G= (p.Asp127=) n.736G= c.-294G= (n.-294G=)
4	g.1001756G>T	CA91167878	IDUA	c.667G>T (p.Asp223Tyr) n.723G>T c.526G>T (p.Asp176Tyr) c.460G>T (p.Asp154Tyr) c.484G>T (p.Asp162Tyr) c.271G>T (p.Asp91Tyr) n.567G>T n.755G>T c.379G>T (p.Asp127Tyr) n.736G>T c.-294G>T (n.-294G>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001757A=	CA1433067884	IDUA	c.668A= (p.Asp223=) n.724A= c.527A= (p.Asp176=) c.461A= (p.Asp154=) c.485A= (p.Asp162=) c.272A= (p.Asp91=) n.568A= n.756A= c.380A= (p.Asp127=) n.737A= c.-293A= (n.-293A=)
4	g.1001757A>C	CA355962028	IDUA	c.668A>C (p.Asp223Ala) n.724A>C c.527A>C (p.Asp176Ala) c.461A>C (p.Asp154Ala) c.485A>C (p.Asp162Ala) c.272A>C (p.Asp91Ala) n.568A>C n.756A>C c.380A>C (p.Asp127Ala) n.737A>C c.-293A>C (n.-293A>C)	dbSNP
4	g.1001757A>G	CA355962030	IDUA	c.668A>G (p.Asp223Gly) n.724A>G c.527A>G (p.Asp176Gly) c.461A>G (p.Asp154Gly) c.485A>G (p.Asp162Gly) c.272A>G (p.Asp91Gly) n.568A>G n.756A>G c.380A>G (p.Asp127Gly) n.737A>G c.-293A>G (n.-293A>G)
4	g.1001757A>T	CA355962029	IDUA	c.668A>T (p.Asp223Val) n.724A>T c.527A>T (p.Asp176Val) c.461A>T (p.Asp154Val) c.485A>T (p.Asp162Val) c.272A>T (p.Asp91Val) n.568A>T n.756A>T c.380A>T (p.Asp127Val) n.737A>T c.-293A>T (n.-293A>T)	gnomAD v4
4	g.1001758C>A	CA355962031	IDUA	c.669C>A (p.Asp223Glu) n.725C>A c.528C>A (p.Asp176Glu) c.462C>A (p.Asp154Glu) c.486C>A (p.Asp162Glu) c.273C>A (p.Asp91Glu) n.569C>A n.757C>A c.381C>A (p.Asp127Glu) n.738C>A c.-292C>A (n.-292C>A)
4	g.1001758C=	CA1433067886	IDUA	c.669C= (p.Asp223=) n.725C= c.528C= (p.Asp176=) c.462C= (p.Asp154=) c.486C= (p.Asp162=) c.273C= (p.Asp91=) n.569C= n.757C= c.381C= (p.Asp127=) n.738C= c.-292C= (n.-292C=)
4	g.1001758C>G	CA355962032	IDUA	c.669C>G (p.Asp223Glu) n.725C>G c.528C>G (p.Asp176Glu) c.462C>G (p.Asp154Glu) c.486C>G (p.Asp162Glu) c.273C>G (p.Asp91Glu) n.569C>G n.757C>G c.381C>G (p.Asp127Glu) n.738C>G c.-292C>G (n.-292C>G)	ClinVar dbSNP gnomAD v4
4	g.1001758C>T	CA438057283	IDUA	c.669C>T (p.Asp223=) n.725C>T c.528C>T (p.Asp176=) c.462C>T (p.Asp154=) c.486C>T (p.Asp162=) c.273C>T (p.Asp91=) n.569C>T n.757C>T c.381C>T (p.Asp127=) n.738C>T c.-292C>T (n.-292C>T)
4	g.1001759T>A	CA355962033	IDUA	c.670T>A (p.Ser224Thr) n.726T>A c.529T>A (p.Ser177Thr) c.463T>A (p.Ser155Thr) c.487T>A (p.Ser163Thr) c.274T>A (p.Ser92Thr) n.570T>A n.758T>A c.382T>A (p.Ser128Thr) n.739T>A c.-291T>A (n.-291T>A)
4	g.1001759T>C	CA2802051	IDUA	c.670T>C (p.Ser224Pro) n.726T>C c.529T>C (p.Ser177Pro) c.463T>C (p.Ser155Pro) c.487T>C (p.Ser163Pro) c.274T>C (p.Ser92Pro) n.570T>C n.758T>C c.382T>C (p.Ser128Pro) n.739T>C c.-291T>C (n.-291T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001759T>G	CA91167888	IDUA	c.670T>G (p.Ser224Ala) n.726T>G c.529T>G (p.Ser177Ala) c.463T>G (p.Ser155Ala) c.487T>G (p.Ser163Ala) c.274T>G (p.Ser92Ala) n.570T>G n.758T>G c.382T>G (p.Ser128Ala) n.739T>G c.-291T>G (n.-291T>G)	dbSNP gnomAD v2 gnomAD v4
4	g.1001759T=	CA1433067889	IDUA	c.670T= (p.Ser224=) n.726T= c.529T= (p.Ser177=) c.463T= (p.Ser155=) c.487T= (p.Ser163=) c.274T= (p.Ser92=) n.570T= n.758T= c.382T= (p.Ser128=) n.739T= c.-291T= (n.-291T=)
4	g.1001760C>A	CA355962034	IDUA	c.671C>A (p.Ser224Tyr) n.727C>A c.530C>A (p.Ser177Tyr) c.464C>A (p.Ser155Tyr) c.488C>A (p.Ser163Tyr) c.275C>A (p.Ser92Tyr) n.571C>A n.759C>A c.383C>A (p.Ser128Tyr) n.740C>A c.-290C>A (n.-290C>A)	gnomAD v4
4	g.1001760C>G	CA355962035	IDUA	c.671C>G (p.Ser224Cys) n.727C>G c.530C>G (p.Ser177Cys) c.464C>G (p.Ser155Cys) c.488C>G (p.Ser163Cys) c.275C>G (p.Ser92Cys) n.571C>G n.759C>G c.383C>G (p.Ser128Cys) n.740C>G c.-290C>G (n.-290C>G)
4	g.1001760C>T	CA355962036	IDUA	c.671C>T (p.Ser224Phe) n.727C>T c.530C>T (p.Ser177Phe) c.464C>T (p.Ser155Phe) c.488C>T (p.Ser163Phe) c.275C>T (p.Ser92Phe) n.571C>T n.759C>T c.383C>T (p.Ser128Phe) n.740C>T c.-290C>T (n.-290C>T)	gnomAD v4
4	g.1001761C>A	CA438057287	IDUA	c.672C>A (p.Ser224=) n.728C>A c.531C>A (p.Ser177=) c.465C>A (p.Ser155=) c.489C>A (p.Ser163=) c.276C>A (p.Ser92=) n.572C>A n.760C>A c.384C>A (p.Ser128=) n.741C>A c.-289C>A (n.-289C>A)
4	g.1001761C=	CA1433067892	IDUA	c.672C= (p.Ser224=) n.728C= c.531C= (p.Ser177=) c.465C= (p.Ser155=) c.489C= (p.Ser163=) c.276C= (p.Ser92=) n.572C= n.760C= c.384C= (p.Ser128=) n.741C= c.-289C= (n.-289C=)
4	g.1001761C>G	CA438057288	IDUA	c.672C>G (p.Ser224=) n.728C>G c.531C>G (p.Ser177=) c.465C>G (p.Ser155=) c.489C>G (p.Ser163=) c.276C>G (p.Ser92=) n.572C>G n.760C>G c.384C>G (p.Ser128=) n.741C>G c.-289C>G (n.-289C>G)
4	g.1001761C>T	CA438057289	IDUA	c.672C>T (p.Ser224=) n.728C>T c.531C>T (p.Ser177=) c.465C>T (p.Ser155=) c.489C>T (p.Ser163=) c.276C>T (p.Ser92=) n.572C>T n.760C>T c.384C>T (p.Ser128=) n.741C>T c.-289C>T (n.-289C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001762T>A	CA355962037	IDUA	c.673T>A (p.Phe225Ile) n.729T>A c.532T>A (p.Phe178Ile) c.466T>A (p.Phe156Ile) c.490T>A (p.Phe164Ile) c.277T>A (p.Phe93Ile) n.573T>A n.761T>A c.385T>A (p.Phe129Ile) n.742T>A c.-288T>A (n.-288T>A)
4	g.1001762T>C	CA355962038	IDUA	c.673T>C (p.Phe225Leu) n.729T>C c.532T>C (p.Phe178Leu) c.466T>C (p.Phe156Leu) c.490T>C (p.Phe164Leu) c.277T>C (p.Phe93Leu) n.573T>C n.761T>C c.385T>C (p.Phe129Leu) n.742T>C c.-288T>C (n.-288T>C)
4	g.1001762T>G	CA355962039	IDUA	c.673T>G (p.Phe225Val) n.729T>G c.532T>G (p.Phe178Val) c.466T>G (p.Phe156Val) c.490T>G (p.Phe164Val) c.277T>G (p.Phe93Val) n.573T>G n.761T>G c.385T>G (p.Phe129Val) n.742T>G c.-288T>G (n.-288T>G)
4	g.1001763T>A	CA355962040	IDUA	c.674T>A (p.Phe225Tyr) n.730T>A c.533T>A (p.Phe178Tyr) c.467T>A (p.Phe156Tyr) c.491T>A (p.Phe164Tyr) c.278T>A (p.Phe93Tyr) n.574T>A n.762T>A c.386T>A (p.Phe129Tyr) n.743T>A c.-287T>A (n.-287T>A)
4	g.1001763T>C	CA355962041	IDUA	c.674T>C (p.Phe225Ser) n.730T>C c.533T>C (p.Phe178Ser) c.467T>C (p.Phe156Ser) c.491T>C (p.Phe164Ser) c.278T>C (p.Phe93Ser) n.574T>C n.762T>C c.386T>C (p.Phe129Ser) n.743T>C c.-287T>C (n.-287T>C)
4	g.1001763T>G	CA355962042	IDUA	c.674T>G (p.Phe225Cys) n.730T>G c.533T>G (p.Phe178Cys) c.467T>G (p.Phe156Cys) c.491T>G (p.Phe164Cys) c.278T>G (p.Phe93Cys) n.574T>G n.762T>G c.386T>G (p.Phe129Cys) n.743T>G c.-287T>G (n.-287T>G)
4	g.1001764C>A	CA355962044	IDUA	c.675C>A (p.Phe225Leu) n.731C>A c.534C>A (p.Phe178Leu) c.468C>A (p.Phe156Leu) c.492C>A (p.Phe164Leu) c.279C>A (p.Phe93Leu) n.575C>A n.763C>A c.387C>A (p.Phe129Leu) n.744C>A c.-286C>A (n.-286C>A)
4	g.1001764C=	CA1433067894	IDUA	c.675C= (p.Phe225=) n.731C= c.534C= (p.Phe178=) c.468C= (p.Phe156=) c.492C= (p.Phe164=) c.279C= (p.Phe93=) n.575C= n.763C= c.387C= (p.Phe129=) n.744C= c.-286C= (n.-286C=)
4	g.1001764C>G	CA355962043	IDUA	c.675C>G (p.Phe225Leu) n.731C>G c.534C>G (p.Phe178Leu) c.468C>G (p.Phe156Leu) c.492C>G (p.Phe164Leu) c.279C>G (p.Phe93Leu) n.575C>G n.763C>G c.387C>G (p.Phe129Leu) n.744C>G c.-286C>G (n.-286C>G)
4	g.1001764C>T	CA2802052	IDUA	c.675C>T (p.Phe225=) n.731C>T c.534C>T (p.Phe178=) c.468C>T (p.Phe156=) c.492C>T (p.Phe164=) c.279C>T (p.Phe93=) n.575C>T n.763C>T c.387C>T (p.Phe129=) n.744C>T c.-286C>T (n.-286C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001764_1001766delinsT	CA2580070653	IDUA	c.675_677delinsT (p.Thr227ProfsTer?) n.731_733delinsT c.534_536delinsT (p.Thr180ProfsTer?) c.468_470delinsT (p.Thr158ProfsTer?) c.492_494delinsT (p.Thr166ProfsTer?) c.279_281delinsT (p.Thr95ProfsTer?) n.575_577delinsT n.763_765delinsT c.387_389delinsT (p.Thr131ProfsTer?) n.744_746delinsT c.-286_-284delinsT (n.-286_-284delinsT)	ClinVar
4	g.1001765C>A	CA355962045	IDUA	c.676C>A (p.His226Asn) n.732C>A c.535C>A (p.His179Asn) c.469C>A (p.His157Asn) c.493C>A (p.His165Asn) c.280C>A (p.His94Asn) n.576C>A n.764C>A c.388C>A (p.His130Asn) n.745C>A c.-285C>A (n.-285C>A)
4	g.1001765C>G	CA355962046	IDUA	c.676C>G (p.His226Asp) n.732C>G c.535C>G (p.His179Asp) c.469C>G (p.His157Asp) c.493C>G (p.His165Asp) c.280C>G (p.His94Asp) n.576C>G n.764C>G c.388C>G (p.His130Asp) n.745C>G c.-285C>G (n.-285C>G)
4	g.1001765C>T	CA355962047	IDUA	c.676C>T (p.His226Tyr) n.732C>T c.535C>T (p.His179Tyr) c.469C>T (p.His157Tyr) c.493C>T (p.His165Tyr) c.280C>T (p.His94Tyr) n.576C>T n.764C>T c.388C>T (p.His130Tyr) n.745C>T c.-285C>T (n.-285C>T)	gnomAD v4
4	g.1001766A>C	CA355962048	IDUA	c.677A>C (p.His226Pro) n.733A>C c.536A>C (p.His179Pro) c.470A>C (p.His157Pro) c.494A>C (p.His165Pro) c.281A>C (p.His94Pro) n.577A>C n.765A>C c.389A>C (p.His130Pro) n.746A>C c.-284A>C (n.-284A>C)
4	g.1001766A>G	CA355962049	IDUA	c.677A>G (p.His226Arg) n.733A>G c.536A>G (p.His179Arg) c.470A>G (p.His157Arg) c.494A>G (p.His165Arg) c.281A>G (p.His94Arg) n.577A>G n.765A>G c.389A>G (p.His130Arg) n.746A>G c.-284A>G (n.-284A>G)
4	g.1001766A>T	CA355962050	IDUA	c.677A>T (p.His226Leu) n.733A>T c.536A>T (p.His179Leu) c.470A>T (p.His157Leu) c.494A>T (p.His165Leu) c.281A>T (p.His94Leu) n.577A>T n.765A>T c.389A>T (p.His130Leu) n.746A>T c.-284A>T (n.-284A>T)
4	g.1001767C>A	CA355962051	IDUA	c.678C>A (p.His226Gln) n.734C>A c.537C>A (p.His179Gln) c.471C>A (p.His157Gln) c.495C>A (p.His165Gln) c.282C>A (p.His94Gln) n.578C>A n.766C>A c.390C>A (p.His130Gln) n.747C>A c.-283C>A (n.-283C>A)
4	g.1001767C>G	CA355962052	IDUA	c.678C>G (p.His226Gln) n.734C>G c.537C>G (p.His179Gln) c.471C>G (p.His157Gln) c.495C>G (p.His165Gln) c.282C>G (p.His94Gln) n.578C>G n.766C>G c.390C>G (p.His130Gln) n.747C>G c.-283C>G (n.-283C>G)
4	g.1001767C>T	CA438057290	IDUA	c.678C>T (p.His226=) n.734C>T c.537C>T (p.His179=) c.471C>T (p.His157=) c.495C>T (p.His165=) c.282C>T (p.His94=) n.578C>T n.766C>T c.390C>T (p.His130=) n.747C>T c.-283C>T (n.-283C>T)	ClinVar dbSNP gnomAD v4
4	g.1001768A=	CA1433067897	IDUA	c.679A= (p.Thr227=) n.735A= c.538A= (p.Thr180=) c.472A= (p.Thr158=) c.496A= (p.Thr166=) c.283A= (p.Thr95=) n.579A= n.767A= c.391A= (p.Thr131=) n.748A= c.-282A= (n.-282A=)
4	g.1001768A>C	CA355962053	IDUA	c.679A>C (p.Thr227Pro) n.735A>C c.538A>C (p.Thr180Pro) c.472A>C (p.Thr158Pro) c.496A>C (p.Thr166Pro) c.283A>C (p.Thr95Pro) n.579A>C n.767A>C c.391A>C (p.Thr131Pro) n.748A>C c.-282A>C (n.-282A>C)	dbSNP
4	g.1001768A>G	CA355962054	IDUA	c.679A>G (p.Thr227Ala) n.735A>G c.538A>G (p.Thr180Ala) c.472A>G (p.Thr158Ala) c.496A>G (p.Thr166Ala) c.283A>G (p.Thr95Ala) n.579A>G n.767A>G c.391A>G (p.Thr131Ala) n.748A>G c.-282A>G (n.-282A>G)
4	g.1001768A>T	CA355962055	IDUA	c.679A>T (p.Thr227Ser) n.735A>T c.538A>T (p.Thr180Ser) c.472A>T (p.Thr158Ser) c.496A>T (p.Thr166Ser) c.283A>T (p.Thr95Ser) n.579A>T n.767A>T c.391A>T (p.Thr131Ser) n.748A>T c.-282A>T (n.-282A>T)
4	g.1001769C>A	CA355962057	IDUA	c.680C>A (p.Thr227Asn) n.736C>A c.539C>A (p.Thr180Asn) c.473C>A (p.Thr158Asn) c.497C>A (p.Thr166Asn) c.284C>A (p.Thr95Asn) n.580C>A n.768C>A c.392C>A (p.Thr131Asn) n.749C>A c.-281C>A (n.-281C>A)	dbSNP gnomAD v4
4	g.1001769C=	CA1433067900	IDUA	c.680C= (p.Thr227=) n.736C= c.539C= (p.Thr180=) c.473C= (p.Thr158=) c.497C= (p.Thr166=) c.284C= (p.Thr95=) n.580C= n.768C= c.392C= (p.Thr131=) n.749C= c.-281C= (n.-281C=)
4	g.1001769C>G	CA355962058	IDUA	c.680C>G (p.Thr227Ser) n.736C>G c.539C>G (p.Thr180Ser) c.473C>G (p.Thr158Ser) c.497C>G (p.Thr166Ser) c.284C>G (p.Thr95Ser) n.580C>G n.768C>G c.392C>G (p.Thr131Ser) n.749C>G c.-281C>G (n.-281C>G)
4	g.1001769C>T	CA355962056	IDUA	c.680C>T (p.Thr227Ile) n.736C>T c.539C>T (p.Thr180Ile) c.473C>T (p.Thr158Ile) c.497C>T (p.Thr166Ile) c.284C>T (p.Thr95Ile) n.580C>T n.768C>T c.392C>T (p.Thr131Ile) n.749C>T c.-281C>T (n.-281C>T)	gnomAD v4
4	g.1001772dup	CA2802053	IDUA	c.683dup (p.Pro229ThrfsTer?) n.739dup c.542dup (p.Pro182ThrfsTer?) c.476dup (p.Pro160ThrfsTer?) c.500dup (p.Pro168ThrfsTer?) c.287dup (p.Pro97ThrfsTer?) n.583dup n.771dup c.395dup (p.Pro133ThrfsTer?) n.752dup c.-278dup (n.-278dup)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001772del	CA2580610937	IDUA	c.683del (p.Pro228HisfsTer6) n.739del c.542del (p.Pro181HisfsTer6) c.476del (p.Pro159HisfsTer6) c.500del (p.Pro167HisfsTer6) c.287del (p.Pro96HisfsTer6) n.583del n.771del c.395del (p.Pro132HisfsTer6) n.752del c.-278del (n.-278del)	gnomAD v4
4	g.1001770C>A	CA438057291	IDUA	c.681C>A (p.Thr227=) n.737C>A c.540C>A (p.Thr180=) c.474C>A (p.Thr158=) c.498C>A (p.Thr166=) c.285C>A (p.Thr95=) n.581C>A n.769C>A c.393C>A (p.Thr131=) n.750C>A c.-280C>A (n.-280C>A)	gnomAD v4
4	g.1001770C>G	CA438057292	IDUA	c.681C>G (p.Thr227=) n.737C>G c.540C>G (p.Thr180=) c.474C>G (p.Thr158=) c.498C>G (p.Thr166=) c.285C>G (p.Thr95=) n.581C>G n.769C>G c.393C>G (p.Thr131=) n.750C>G c.-280C>G (n.-280C>G)	ClinVar
4	g.1001770C>T	CA438057293	IDUA	c.681C>T (p.Thr227=) n.737C>T c.540C>T (p.Thr180=) c.474C>T (p.Thr158=) c.498C>T (p.Thr166=) c.285C>T (p.Thr95=) n.581C>T n.769C>T c.393C>T (p.Thr131=) n.750C>T c.-280C>T (n.-280C>T)
4	g.1001771C>A	CA355962059	IDUA	c.682C>A (p.Pro228Thr) n.738C>A c.541C>A (p.Pro181Thr) c.475C>A (p.Pro159Thr) c.499C>A (p.Pro167Thr) c.286C>A (p.Pro96Thr) n.582C>A n.770C>A c.394C>A (p.Pro132Thr) n.751C>A c.-279C>A (n.-279C>A)
4	g.1001771C=	CA1433067902	IDUA	c.682C= (p.Pro228=) n.738C= c.541C= (p.Pro181=) c.475C= (p.Pro159=) c.499C= (p.Pro167=) c.286C= (p.Pro96=) n.582C= n.770C= c.394C= (p.Pro132=) n.751C= c.-279C= (n.-279C=)
4	g.1001771C>G	CA355962060	IDUA	c.682C>G (p.Pro228Ala) n.738C>G c.541C>G (p.Pro181Ala) c.475C>G (p.Pro159Ala) c.499C>G (p.Pro167Ala) c.286C>G (p.Pro96Ala) n.582C>G n.770C>G c.394C>G (p.Pro132Ala) n.751C>G c.-279C>G (n.-279C>G)	gnomAD v4
4	g.1001771C>T	CA2802054	IDUA	c.682C>T (p.Pro228Ser) n.738C>T c.541C>T (p.Pro181Ser) c.475C>T (p.Pro159Ser) c.499C>T (p.Pro167Ser) c.286C>T (p.Pro96Ser) n.582C>T n.770C>T c.394C>T (p.Pro132Ser) n.751C>T c.-279C>T (n.-279C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001772C>A	CA355962061	IDUA	c.683C>A (p.Pro228Gln) n.739C>A c.542C>A (p.Pro181Gln) c.476C>A (p.Pro159Gln) c.500C>A (p.Pro167Gln) c.287C>A (p.Pro96Gln) n.583C>A n.771C>A c.395C>A (p.Pro132Gln) n.752C>A c.-278C>A (n.-278C>A)
4	g.1001772C=	CA1433067906	IDUA	c.683C= (p.Pro228=) n.739C= c.542C= (p.Pro181=) c.476C= (p.Pro159=) c.500C= (p.Pro167=) c.287C= (p.Pro96=) n.583C= n.771C= c.395C= (p.Pro132=) n.752C= c.-278C= (n.-278C=)
4	g.1001772C>G	CA355962062	IDUA	c.683C>G (p.Pro228Arg) n.739C>G c.542C>G (p.Pro181Arg) c.476C>G (p.Pro159Arg) c.500C>G (p.Pro167Arg) c.287C>G (p.Pro96Arg) n.583C>G n.771C>G c.395C>G (p.Pro132Arg) n.752C>G c.-278C>G (n.-278C>G)
4	g.1001772C>T	CA355962063	IDUA	c.683C>T (p.Pro228Leu) n.739C>T c.542C>T (p.Pro181Leu) c.476C>T (p.Pro159Leu) c.500C>T (p.Pro167Leu) c.287C>T (p.Pro96Leu) n.583C>T n.771C>T c.395C>T (p.Pro132Leu) n.752C>T c.-278C>T (n.-278C>T)	dbSNP gnomAD v2 gnomAD v4
4	g.1001772_1001773insCACCAAACACACCCAAC	CA2760125525	IDUA	c.683_684insCACCAAACACACCCAAC (p.Pro229ThrfsTer11) n.739_740insCACCAAACACACCCAAC c.542_543insCACCAAACACACCCAAC (p.Pro182ThrfsTer11) c.476_477insCACCAAACACACCCAAC (p.Pro160ThrfsTer11) c.500_501insCACCAAACACACCCAAC (p.Pro168ThrfsTer11) c.287_288insCACCAAACACACCCAAC (p.Pro97ThrfsTer11) n.583_584insCACCAAACACACCCAAC n.771_772insCACCAAACACACCCAAC c.395_396insCACCAAACACACCCAAC (p.Pro133ThrfsTer11) n.752_753insCACCAAACACACCCAAC c.-278_-277insCACCAAACACACCCAAC (n.-278_-277insCACCAAACACACCCAAC)
4	g.1001773A=	CA1433067908	IDUA	c.684A= (p.Pro228=) n.740A= c.543A= (p.Pro181=) c.477A= (p.Pro159=) c.501A= (p.Pro167=) c.288A= (p.Pro96=) n.584A= n.772A= c.396A= (p.Pro132=) n.753A= c.-277A= (n.-277A=)
4	g.1001773A>C	CA438057294	IDUA	c.684A>C (p.Pro228=) n.740A>C c.543A>C (p.Pro181=) c.477A>C (p.Pro159=) c.501A>C (p.Pro167=) c.288A>C (p.Pro96=) n.584A>C n.772A>C c.396A>C (p.Pro132=) n.753A>C c.-277A>C (n.-277A>C)
4	g.1001773A>G	CA438057295	IDUA	c.684A>G (p.Pro228=) n.740A>G c.543A>G (p.Pro181=) c.477A>G (p.Pro159=) c.501A>G (p.Pro167=) c.288A>G (p.Pro96=) n.584A>G n.772A>G c.396A>G (p.Pro132=) n.753A>G c.-277A>G (n.-277A>G)	dbSNP
4	g.1001773A>T	CA438057296	IDUA	c.684A>T (p.Pro228=) n.740A>T c.543A>T (p.Pro181=) c.477A>T (p.Pro159=) c.501A>T (p.Pro167=) c.288A>T (p.Pro96=) n.584A>T n.772A>T c.396A>T (p.Pro132=) n.753A>T c.-277A>T (n.-277A>T)
4	g.1001774C>A	CA355962064	IDUA	c.685C>A (p.Pro229Thr) n.741C>A c.544C>A (p.Pro182Thr) c.478C>A (p.Pro160Thr) c.502C>A (p.Pro168Thr) c.289C>A (p.Pro97Thr) n.585C>A n.773C>A c.397C>A (p.Pro133Thr) n.754C>A c.-276C>A (n.-276C>A)
4	g.1001774C>G	CA355962065	IDUA	c.685C>G (p.Pro229Ala) n.741C>G c.544C>G (p.Pro182Ala) c.478C>G (p.Pro160Ala) c.502C>G (p.Pro168Ala) c.289C>G (p.Pro97Ala) n.585C>G n.773C>G c.397C>G (p.Pro133Ala) n.754C>G c.-276C>G (n.-276C>G)
4	g.1001774C>T	CA355962066	IDUA	c.685C>T (p.Pro229Ser) n.741C>T c.544C>T (p.Pro182Ser) c.478C>T (p.Pro160Ser) c.502C>T (p.Pro168Ser) c.289C>T (p.Pro97Ser) n.585C>T n.773C>T c.397C>T (p.Pro133Ser) n.754C>T c.-276C>T (n.-276C>T)	gnomAD v4
4	g.1001775C>A	CA355962067	IDUA	c.686C>A (p.Pro229Gln) n.742C>A c.545C>A (p.Pro182Gln) c.479C>A (p.Pro160Gln) c.503C>A (p.Pro168Gln) c.290C>A (p.Pro97Gln) n.586C>A n.774C>A c.398C>A (p.Pro133Gln) n.755C>A c.-275C>A (n.-275C>A)
4	g.1001775C=	CA1433067911	IDUA	c.686C= (p.Pro229=) n.742C= c.545C= (p.Pro182=) c.479C= (p.Pro160=) c.503C= (p.Pro168=) c.290C= (p.Pro97=) n.586C= n.774C= c.398C= (p.Pro133=) n.755C= c.-275C= (n.-275C=)
4	g.1001775C>G	CA355962068	IDUA	c.686C>G (p.Pro229Arg) n.742C>G c.545C>G (p.Pro182Arg) c.479C>G (p.Pro160Arg) c.503C>G (p.Pro168Arg) c.290C>G (p.Pro97Arg) n.586C>G n.774C>G c.398C>G (p.Pro133Arg) n.755C>G c.-275C>G (n.-275C>G)	dbSNP gnomAD v4
4	g.1001775C>T	CA2802055	IDUA	c.686C>T (p.Pro229Leu) n.742C>T c.545C>T (p.Pro182Leu) c.479C>T (p.Pro160Leu) c.503C>T (p.Pro168Leu) c.290C>T (p.Pro97Leu) n.586C>T n.774C>T c.398C>T (p.Pro133Leu) n.755C>T c.-275C>T (n.-275C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4	g.1001776G>A	CA438057297	IDUA	c.687G>A (p.Pro229=) n.743G>A c.546G>A (p.Pro182=) c.480G>A (p.Pro160=) c.504G>A (p.Pro168=) c.291G>A (p.Pro97=) n.587G>A n.775G>A c.399G>A (p.Pro133=) n.756G>A c.-274G>A (n.-274G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.1001776G>C	CA438057298	IDUA	c.687G>C (p.Pro229=) n.743G>C c.546G>C (p.Pro182=) c.480G>C (p.Pro160=) c.504G>C (p.Pro168=) c.291G>C (p.Pro97=) n.587G>C n.775G>C c.399G>C (p.Pro133=) n.756G>C c.-274G>C (n.-274G>C)
4	g.1001776G=	CA1433067913	IDUA	c.687G= (p.Pro229=) n.743G= c.546G= (p.Pro182=) c.480G= (p.Pro160=) c.504G= (p.Pro168=) c.291G= (p.Pro97=) n.587G= n.775G= c.399G= (p.Pro133=) n.756G= c.-274G= (n.-274G=)
4	g.1001776G>T	CA438057299	IDUA	c.687G>T (p.Pro229=) n.743G>T c.546G>T (p.Pro182=) c.480G>T (p.Pro160=) c.504G>T (p.Pro168=) c.291G>T (p.Pro97=) n.587G>T n.775G>T c.399G>T (p.Pro133=) n.756G>T c.-274G>T (n.-274G>T)	ClinVar dbSNP gnomAD v4
4	g.1001777C>A	CA438057300	IDUA	c.688C>A (p.Arg230=) n.744C>A c.547C>A (p.Arg183=) c.481C>A (p.Arg161=) c.505C>A (p.Arg169=) c.292C>A (p.Arg98=) n.588C>A n.776C>A c.400C>A (p.Arg134=) n.757C>A c.-273C>A (n.-273C>A)	gnomAD v4
4	g.1001777C>G	CA355962070	IDUA	c.688C>G (p.Arg230Gly) n.744C>G c.547C>G (p.Arg183Gly) c.481C>G (p.Arg161Gly) c.505C>G (p.Arg169Gly) c.292C>G (p.Arg98Gly) n.588C>G n.776C>G c.400C>G (p.Arg134Gly) n.757C>G c.-273C>G (n.-273C>G)
4	g.1001777C>T	CA355962069	IDUA	c.688C>T (p.Arg230Ter) n.744C>T c.547C>T (p.Arg183Ter) c.481C>T (p.Arg161Ter) c.505C>T (p.Arg169Ter) c.292C>T (p.Arg98Ter) n.588C>T n.776C>T c.400C>T (p.Arg134Ter) n.757C>T c.-273C>T (n.-273C>T)	gnomAD v4 COSMIC COSMIC
4	g.1001778G>A	CA355962071	IDUA	c.689G>A (p.Arg230Gln) n.745G>A c.548G>A (p.Arg183Gln) c.482G>A (p.Arg161Gln) c.506G>A (p.Arg169Gln) c.293G>A (p.Arg98Gln) n.589G>A n.777G>A c.401G>A (p.Arg134Gln) n.758G>A c.-272G>A (n.-272G>A)	dbSNP gnomAD v2 gnomAD v4
4	g.1001778G>C	CA355962072	IDUA	c.689G>C (p.Arg230Pro) n.745G>C c.548G>C (p.Arg183Pro) c.482G>C (p.Arg161Pro) c.506G>C (p.Arg169Pro) c.293G>C (p.Arg98Pro) n.589G>C n.777G>C c.401G>C (p.Arg134Pro) n.758G>C c.-272G>C (n.-272G>C)	dbSNP
4	g.1001778G=	CA1433067915	IDUA	c.689G= (p.Arg230=) n.745G= c.548G= (p.Arg183=) c.482G= (p.Arg161=) c.506G= (p.Arg169=) c.293G= (p.Arg98=) n.589G= n.777G= c.401G= (p.Arg134=) n.758G= c.-272G= (n.-272G=)
4	g.1001778G>T	CA355962073	IDUA	c.689G>T (p.Arg230Leu) n.745G>T c.548G>T (p.Arg183Leu) c.482G>T (p.Arg161Leu) c.506G>T (p.Arg169Leu) c.293G>T (p.Arg98Leu) n.589G>T n.777G>T c.401G>T (p.Arg134Leu) n.758G>T c.-272G>T (n.-272G>T)	gnomAD v4
4	g.1001779A>C	CA438057301	IDUA	c.690A>C (p.Arg230=) n.746A>C c.549A>C (p.Arg183=) c.483A>C (p.Arg161=) c.507A>C (p.Arg169=) c.294A>C (p.Arg98=) n.590A>C n.778A>C c.402A>C (p.Arg134=) n.759A>C c.-271A>C (n.-271A>C)
4	g.1001779A>G	CA438057302	IDUA	c.690A>G (p.Arg230=) n.746A>G c.549A>G (p.Arg183=) c.483A>G (p.Arg161=) c.507A>G (p.Arg169=) c.294A>G (p.Arg98=) n.590A>G n.778A>G c.402A>G (p.Arg134=) n.759A>G c.-271A>G (n.-271A>G)
4	g.1001779A>T	CA438057303	IDUA	c.690A>T (p.Arg230=) n.746A>T c.549A>T (p.Arg183=) c.483A>T (p.Arg161=) c.507A>T (p.Arg169=) c.294A>T (p.Arg98=) n.590A>T n.778A>T c.402A>T (p.Arg134=) n.759A>T c.-271A>T (n.-271A>T)
4	g.1001780T>A	CA355962074	IDUA	c.691T>A (p.Ser231Thr) n.747T>A c.550T>A (p.Ser184Thr) c.484T>A (p.Ser162Thr) c.508T>A (p.Ser170Thr) c.295T>A (p.Ser99Thr) n.591T>A n.779T>A c.403T>A (p.Ser135Thr) n.760T>A c.-270T>A (n.-270T>A)
4	g.1001780T>C	CA355962075	IDUA	c.691T>C (p.Ser231Pro) n.747T>C c.550T>C (p.Ser184Pro) c.484T>C (p.Ser162Pro) c.508T>C (p.Ser170Pro) c.295T>C (p.Ser99Pro) n.591T>C n.779T>C c.403T>C (p.Ser135Pro) n.760T>C c.-270T>C (n.-270T>C)
4	g.1001780T>G	CA355962076	IDUA	c.691T>G (p.Ser231Ala) n.747T>G c.550T>G (p.Ser184Ala) c.484T>G (p.Ser162Ala) c.508T>G (p.Ser170Ala) c.295T>G (p.Ser99Ala) n.591T>G n.779T>G c.403T>G (p.Ser135Ala) n.760T>G c.-270T>G (n.-270T>G)
4	g.1001781C>A	CA355962077	IDUA	c.692C>A (p.Ser231Tyr) n.748C>A c.551C>A (p.Ser184Tyr) c.485C>A (p.Ser162Tyr) c.509C>A (p.Ser170Tyr) c.296C>A (p.Ser99Tyr) n.592C>A n.780C>A c.404C>A (p.Ser135Tyr) n.761C>A c.-269C>A (n.-269C>A)
4	g.1001781C=	CA1433067917	IDUA	c.692C= (p.Ser231=) n.748C= c.551C= (p.Ser184=) c.485C= (p.Ser162=) c.509C= (p.Ser170=) c.296C= (p.Ser99=) n.592C= n.780C= c.404C= (p.Ser135=) n.761C= c.-269C= (n.-269C=)
4	g.1001781C>G	CA91167910	IDUA	c.692C>G (p.Ser231Cys) n.748C>G c.551C>G (p.Ser184Cys) c.485C>G (p.Ser162Cys) c.509C>G (p.Ser170Cys) c.296C>G (p.Ser99Cys) n.592C>G n.780C>G c.404C>G (p.Ser135Cys) n.761C>G c.-269C>G (n.-269C>G)	dbSNP
4	g.1001781C>T	CA355962078	IDUA	c.692C>T (p.Ser231Phe) n.748C>T c.551C>T (p.Ser184Phe) c.485C>T (p.Ser162Phe) c.509C>T (p.Ser170Phe) c.296C>T (p.Ser99Phe) n.592C>T n.780C>T c.404C>T (p.Ser135Phe) n.761C>T c.-269C>T (n.-269C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001782C>A	CA438057304	IDUA	c.693C>A (p.Ser231=) n.749C>A c.552C>A (p.Ser184=) c.486C>A (p.Ser162=) c.510C>A (p.Ser170=) c.297C>A (p.Ser99=) n.593C>A n.781C>A c.405C>A (p.Ser135=) n.762C>A c.-268C>A (n.-268C>A)	ClinVar dbSNP gnomAD v4
4	g.1001782C=	CA1433067921	IDUA	c.693C= (p.Ser231=) n.749C= c.552C= (p.Ser184=) c.486C= (p.Ser162=) c.510C= (p.Ser170=) c.297C= (p.Ser99=) n.593C= n.781C= c.405C= (p.Ser135=) n.762C= c.-268C= (n.-268C=)
4	g.1001782C>G	CA438057305	IDUA	c.693C>G (p.Ser231=) n.749C>G c.552C>G (p.Ser184=) c.486C>G (p.Ser162=) c.510C>G (p.Ser170=) c.297C>G (p.Ser99=) n.593C>G n.781C>G c.405C>G (p.Ser135=) n.762C>G c.-268C>G (n.-268C>G)	ClinVar gnomAD v4
4	g.1001782C>T	CA2802056	IDUA	c.693C>T (p.Ser231=) n.749C>T c.552C>T (p.Ser184=) c.486C>T (p.Ser162=) c.510C>T (p.Ser170=) c.297C>T (p.Ser99=) n.593C>T n.781C>T c.405C>T (p.Ser135=) n.762C>T c.-268C>T (n.-268C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4	g.1001783C>A	CA2802057	IDUA	c.694C>A (p.Pro232Thr) n.750C>A c.553C>A (p.Pro185Thr) c.487C>A (p.Pro163Thr) c.511C>A (p.Pro171Thr) c.298C>A (p.Pro100Thr) n.594C>A n.782C>A c.406C>A (p.Pro136Thr) n.763C>A c.-267C>A (n.-267C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001783C=	CA1433067924	IDUA	c.694C= (p.Pro232=) n.750C= c.553C= (p.Pro185=) c.487C= (p.Pro163=) c.511C= (p.Pro171=) c.298C= (p.Pro100=) n.594C= n.782C= c.406C= (p.Pro136=) n.763C= c.-267C= (n.-267C=)
4	g.1001783C>G	CA355962079	IDUA	c.694C>G (p.Pro232Ala) n.750C>G c.553C>G (p.Pro185Ala) c.487C>G (p.Pro163Ala) c.511C>G (p.Pro171Ala) c.298C>G (p.Pro100Ala) n.594C>G n.782C>G c.406C>G (p.Pro136Ala) n.763C>G c.-267C>G (n.-267C>G)
4	g.1001783C>T	CA355962080	IDUA	c.694C>T (p.Pro232Ser) n.750C>T c.553C>T (p.Pro185Ser) c.487C>T (p.Pro163Ser) c.511C>T (p.Pro171Ser) c.298C>T (p.Pro100Ser) n.594C>T n.782C>T c.406C>T (p.Pro136Ser) n.763C>T c.-267C>T (n.-267C>T)	gnomAD v4
4	g.1001784C>A	CA355962082	IDUA	c.695C>A (p.Pro232Gln) n.751C>A c.554C>A (p.Pro185Gln) c.488C>A (p.Pro163Gln) c.512C>A (p.Pro171Gln) c.299C>A (p.Pro100Gln) n.595C>A n.783C>A c.407C>A (p.Pro136Gln) n.764C>A c.-266C>A (n.-266C>A)	gnomAD v4
4	g.1001784C>G	CA355962083	IDUA	c.695C>G (p.Pro232Arg) n.751C>G c.554C>G (p.Pro185Arg) c.488C>G (p.Pro163Arg) c.512C>G (p.Pro171Arg) c.299C>G (p.Pro100Arg) n.595C>G n.783C>G c.407C>G (p.Pro136Arg) n.764C>G c.-266C>G (n.-266C>G)
4	g.1001784C>T	CA355962081	IDUA	c.695C>T (p.Pro232Leu) n.751C>T c.554C>T (p.Pro185Leu) c.488C>T (p.Pro163Leu) c.512C>T (p.Pro171Leu) c.299C>T (p.Pro100Leu) n.595C>T n.783C>T c.407C>T (p.Pro136Leu) n.764C>T c.-266C>T (n.-266C>T)	gnomAD v4
4	g.1001785G>A	CA438057306	IDUA	c.696G>A (p.Pro232=) n.752G>A c.555G>A (p.Pro185=) c.489G>A (p.Pro163=) c.513G>A (p.Pro171=) c.300G>A (p.Pro100=) n.596G>A n.784G>A c.408G>A (p.Pro136=) n.765G>A c.-265G>A (n.-265G>A)	ClinVar dbSNP gnomAD v4
4	g.1001785G>C	CA438057307	IDUA	c.696G>C (p.Pro232=) n.752G>C c.555G>C (p.Pro185=) c.489G>C (p.Pro163=) c.513G>C (p.Pro171=) c.300G>C (p.Pro100=) n.596G>C n.784G>C c.408G>C (p.Pro136=) n.765G>C c.-265G>C (n.-265G>C)	dbSNP gnomAD v4
4	g.1001785G=	CA1433067927	IDUA	c.696G= (p.Pro232=) n.752G= c.555G= (p.Pro185=) c.489G= (p.Pro163=) c.513G= (p.Pro171=) c.300G= (p.Pro100=) n.596G= n.784G= c.408G= (p.Pro136=) n.765G= c.-265G= (n.-265G=)
4	g.1001785G>T	CA438057308	IDUA	c.696G>T (p.Pro232=) n.752G>T c.555G>T (p.Pro185=) c.489G>T (p.Pro163=) c.513G>T (p.Pro171=) c.300G>T (p.Pro100=) n.596G>T n.784G>T c.408G>T (p.Pro136=) n.765G>T c.-265G>T (n.-265G>T)	gnomAD v4
4	g.1001786C>A	CA355962085	IDUA	c.697C>A (p.Leu233Met) n.753C>A c.556C>A (p.Leu186Met) c.490C>A (p.Leu164Met) c.514C>A (p.Leu172Met) c.301C>A (p.Leu101Met) n.597C>A n.785C>A c.409C>A (p.Leu137Met) n.766C>A c.-264C>A (n.-264C>A)	dbSNP gnomAD v2 gnomAD v4
4	g.1001786C=	CA1433067929	IDUA	c.697C= (p.Leu233=) n.753C= c.556C= (p.Leu186=) c.490C= (p.Leu164=) c.514C= (p.Leu172=) c.301C= (p.Leu101=) n.597C= n.785C= c.409C= (p.Leu137=) n.766C= c.-264C= (n.-264C=)
4	g.1001786C>G	CA355962084	IDUA	c.697C>G (p.Leu233Val) n.753C>G c.556C>G (p.Leu186Val) c.490C>G (p.Leu164Val) c.514C>G (p.Leu172Val) c.301C>G (p.Leu101Val) n.597C>G n.785C>G c.409C>G (p.Leu137Val) n.766C>G c.-264C>G (n.-264C>G)
4	g.1001786C>T	CA438057309	IDUA	c.697C>T (p.Leu233=) n.753C>T c.556C>T (p.Leu186=) c.490C>T (p.Leu164=) c.514C>T (p.Leu172=) c.301C>T (p.Leu101=) n.597C>T n.785C>T c.409C>T (p.Leu137=) n.766C>T c.-264C>T (n.-264C>T)	gnomAD v4
4	g.1001787T>A	CA355962086	IDUA	c.698T>A (p.Leu233Gln) n.754T>A c.557T>A (p.Leu186Gln) c.491T>A (p.Leu164Gln) c.515T>A (p.Leu172Gln) c.302T>A (p.Leu101Gln) n.598T>A n.786T>A c.410T>A (p.Leu137Gln) n.767T>A c.-263T>A (n.-263T>A)
4	g.1001787T>C	CA355962087	IDUA	c.698T>C (p.Leu233Pro) n.754T>C c.557T>C (p.Leu186Pro) c.491T>C (p.Leu164Pro) c.515T>C (p.Leu172Pro) c.302T>C (p.Leu101Pro) n.598T>C n.786T>C c.410T>C (p.Leu137Pro) n.767T>C c.-263T>C (n.-263T>C)	gnomAD v4
4	g.1001787T>G	CA355962088	IDUA	c.698T>G (p.Leu233Arg) n.754T>G c.557T>G (p.Leu186Arg) c.491T>G (p.Leu164Arg) c.515T>G (p.Leu172Arg) c.302T>G (p.Leu101Arg) n.598T>G n.786T>G c.410T>G (p.Leu137Arg) n.767T>G c.-263T>G (n.-263T>G)	gnomAD v4
4	g.1001788G>A	CA438057310	IDUA	c.699G>A (p.Leu233=) n.755G>A c.558G>A (p.Leu186=) c.492G>A (p.Leu164=) c.516G>A (p.Leu172=) c.303G>A (p.Leu101=) n.599G>A n.787G>A c.411G>A (p.Leu137=) n.768G>A c.-262G>A (n.-262G>A)
4	g.1001788G>C	CA438057311	IDUA	c.699G>C (p.Leu233=) n.755G>C c.558G>C (p.Leu186=) c.492G>C (p.Leu164=) c.516G>C (p.Leu172=) c.303G>C (p.Leu101=) n.599G>C n.787G>C c.411G>C (p.Leu137=) n.768G>C c.-262G>C (n.-262G>C)
4	g.1001788G>T	CA438057312	IDUA	c.699G>T (p.Leu233=) n.755G>T c.558G>T (p.Leu186=) c.492G>T (p.Leu164=) c.516G>T (p.Leu172=) c.303G>T (p.Leu101=) n.599G>T n.787G>T c.411G>T (p.Leu137=) n.768G>T c.-262G>T (n.-262G>T)	gnomAD v4
4	g.1001789A>C	CA355962089	IDUA	c.700A>C (p.Ser234Arg) n.756A>C c.559A>C (p.Ser187Arg) c.493A>C (p.Ser165Arg) c.517A>C (p.Ser173Arg) c.304A>C (p.Ser102Arg) n.600A>C n.788A>C c.412A>C (p.Ser138Arg) n.769A>C c.-261A>C (n.-261A>C)
4	g.1001789A>G	CA355962090	IDUA	c.700A>G (p.Ser234Gly) n.756A>G c.559A>G (p.Ser187Gly) c.493A>G (p.Ser165Gly) c.517A>G (p.Ser173Gly) c.304A>G (p.Ser102Gly) n.600A>G n.788A>G c.412A>G (p.Ser138Gly) n.769A>G c.-261A>G (n.-261A>G)
4	g.1001789A>T	CA355962091	IDUA	c.700A>T (p.Ser234Cys) n.756A>T c.559A>T (p.Ser187Cys) c.493A>T (p.Ser165Cys) c.517A>T (p.Ser173Cys) c.304A>T (p.Ser102Cys) n.600A>T n.788A>T c.412A>T (p.Ser138Cys) n.769A>T c.-261A>T (n.-261A>T)
4	g.1001790G>A	CA355962092	IDUA	c.701G>A (p.Ser234Asn) n.757G>A c.560G>A (p.Ser187Asn) c.494G>A (p.Ser165Asn) c.518G>A (p.Ser173Asn) c.305G>A (p.Ser102Asn) n.601G>A n.789G>A c.413G>A (p.Ser138Asn) n.770G>A c.-260G>A (n.-260G>A)	gnomAD v4
4	g.1001790G>C	CA2802058	IDUA	c.701G>C (p.Ser234Thr) n.757G>C c.560G>C (p.Ser187Thr) c.494G>C (p.Ser165Thr) c.518G>C (p.Ser173Thr) c.305G>C (p.Ser102Thr) n.601G>C n.789G>C c.413G>C (p.Ser138Thr) n.770G>C c.-260G>C (n.-260G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001790G=	CA1433067932	IDUA	c.701G= (p.Ser234=) n.757G= c.560G= (p.Ser187=) c.494G= (p.Ser165=) c.518G= (p.Ser173=) c.305G= (p.Ser102=) n.601G= n.789G= c.413G= (p.Ser138=) n.770G= c.-260G= (n.-260G=)
4	g.1001790G>T	CA355962093	IDUA	c.701G>T (p.Ser234Ile) n.757G>T c.560G>T (p.Ser187Ile) c.494G>T (p.Ser165Ile) c.518G>T (p.Ser173Ile) c.305G>T (p.Ser102Ile) n.601G>T n.789G>T c.413G>T (p.Ser138Ile) n.770G>T c.-260G>T (n.-260G>T)	gnomAD v4
4	g.1001791C>A	CA355962094	IDUA	c.702C>A (p.Ser234Arg) n.758C>A c.561C>A (p.Ser187Arg) c.495C>A (p.Ser165Arg) c.519C>A (p.Ser173Arg) c.306C>A (p.Ser102Arg) n.602C>A n.790C>A c.414C>A (p.Ser138Arg) n.771C>A c.-259C>A (n.-259C>A)	dbSNP gnomAD v3 gnomAD v4
4	g.1001791C=	CA1433067935	IDUA	c.702C= (p.Ser234=) n.758C= c.561C= (p.Ser187=) c.495C= (p.Ser165=) c.519C= (p.Ser173=) c.306C= (p.Ser102=) n.602C= n.790C= c.414C= (p.Ser138=) n.771C= c.-259C= (n.-259C=)
4	g.1001791C>G	CA355962095	IDUA	c.702C>G (p.Ser234Arg) n.758C>G c.561C>G (p.Ser187Arg) c.495C>G (p.Ser165Arg) c.519C>G (p.Ser173Arg) c.306C>G (p.Ser102Arg) n.602C>G n.790C>G c.414C>G (p.Ser138Arg) n.771C>G c.-259C>G (n.-259C>G)
4	g.1001791C>T	CA438057313	IDUA	c.702C>T (p.Ser234=) n.758C>T c.561C>T (p.Ser187=) c.495C>T (p.Ser165=) c.519C>T (p.Ser173=) c.306C>T (p.Ser102=) n.602C>T n.790C>T c.414C>T (p.Ser138=) n.771C>T c.-259C>T (n.-259C>T)	ClinVar gnomAD v4
4	g.1001792T>A	CA355962098	IDUA	c.703T>A (p.Trp235Arg) n.759T>A c.562T>A (p.Trp188Arg) c.496T>A (p.Trp166Arg) c.520T>A (p.Trp174Arg) c.307T>A (p.Trp103Arg) n.603T>A n.791T>A c.415T>A (p.Trp139Arg) n.772T>A c.-258T>A (n.-258T>A)
4	g.1001792T>C	CA355962097	IDUA	c.703T>C (p.Trp235Arg) n.759T>C c.562T>C (p.Trp188Arg) c.496T>C (p.Trp166Arg) c.520T>C (p.Trp174Arg) c.307T>C (p.Trp103Arg) n.603T>C n.791T>C c.415T>C (p.Trp139Arg) n.772T>C c.-258T>C (n.-258T>C)
4	g.1001792T>G	CA355962096	IDUA	c.703T>G (p.Trp235Gly) n.759T>G c.562T>G (p.Trp188Gly) c.496T>G (p.Trp166Gly) c.520T>G (p.Trp174Gly) c.307T>G (p.Trp103Gly) n.603T>G n.791T>G c.415T>G (p.Trp139Gly) n.772T>G c.-258T>G (n.-258T>G)
4	g.1001793G>A	CA355962099	IDUA	c.704G>A (p.Trp235Ter) n.760G>A c.563G>A (p.Trp188Ter) c.497G>A (p.Trp166Ter) c.521G>A (p.Trp174Ter) c.308G>A (p.Trp103Ter) n.604G>A n.792G>A c.416G>A (p.Trp139Ter) n.773G>A c.-257G>A (n.-257G>A)
4	g.1001793G>C	CA355962100	IDUA	c.704G>C (p.Trp235Ser) n.760G>C c.563G>C (p.Trp188Ser) c.497G>C (p.Trp166Ser) c.521G>C (p.Trp174Ser) c.308G>C (p.Trp103Ser) n.604G>C n.792G>C c.416G>C (p.Trp139Ser) n.773G>C c.-257G>C (n.-257G>C)
4	g.1001793G>T	CA355962101	IDUA	c.704G>T (p.Trp235Leu) n.760G>T c.563G>T (p.Trp188Leu) c.497G>T (p.Trp166Leu) c.521G>T (p.Trp174Leu) c.308G>T (p.Trp103Leu) n.604G>T n.792G>T c.416G>T (p.Trp139Leu) n.773G>T c.-257G>T (n.-257G>T)	gnomAD v4
4	g.1001796del	CA2669479557	IDUA	c.707del (p.Gly236AlafsTer?) n.763del c.566del (p.Gly189AlafsTer?) c.500del (p.Gly167AlafsTer?) c.524del (p.Gly175AlafsTer?) c.311del (p.Gly104AlafsTer?) n.607del n.795del c.419del (p.Gly140AlafsTer?) n.776del c.-254del (n.-254del)	gnomAD v4
4	g.1001794_1001796del	CA2669479558	IDUA	c.705_707del (p.Trp235_Gly236delinsCys) n.761_763del c.564_566del (p.Trp188_Gly189delinsCys) c.498_500del (p.Trp166_Gly167delinsCys) c.522_524del (p.Trp174_Gly175delinsCys) c.309_311del (p.Trp103_Gly104delinsCys) n.605_607del n.793_795del c.417_419del (p.Trp139_Gly140delinsCys) n.774_776del c.-256_-254del (n.-256_-254del)	gnomAD v4
4	g.1001793_1001794insCTGCT	CA2586965944	IDUA	c.704_705insCTGCT (p.Trp235CysfsTer?) n.760_761insCTGCT c.563_564insCTGCT (p.Trp188CysfsTer?) c.497_498insCTGCT (p.Trp166CysfsTer?) c.521_522insCTGCT (p.Trp174CysfsTer?) c.308_309insCTGCT (p.Trp103CysfsTer?) n.604_605insCTGCT n.792_793insCTGCT c.416_417insCTGCT (p.Trp139CysfsTer?) n.773_774insCTGCT c.-257_-256insCTGCT (n.-257_-256insCTGCT)
4	g.1001794G>A	CA355962102	IDUA	c.705G>A (p.Trp235Ter) n.761G>A c.564G>A (p.Trp188Ter) c.498G>A (p.Trp166Ter) c.522G>A (p.Trp174Ter) c.309G>A (p.Trp103Ter) n.605G>A n.793G>A c.417G>A (p.Trp139Ter) n.774G>A c.-256G>A (n.-256G>A)	dbSNP
4	g.1001794G>C	CA355962103	IDUA	c.705G>C (p.Trp235Cys) n.761G>C c.564G>C (p.Trp188Cys) c.498G>C (p.Trp166Cys) c.522G>C (p.Trp174Cys) c.309G>C (p.Trp103Cys) n.605G>C n.793G>C c.417G>C (p.Trp139Cys) n.774G>C c.-256G>C (n.-256G>C)
4	g.1001794G=	CA1433067937	IDUA	c.705G= (p.Trp235=) n.761G= c.564G= (p.Trp188=) c.498G= (p.Trp166=) c.522G= (p.Trp174=) c.309G= (p.Trp103=) n.605G= n.793G= c.417G= (p.Trp139=) n.774G= c.-256G= (n.-256G=)
4	g.1001794G>T	CA355962104	IDUA	c.705G>T (p.Trp235Cys) n.761G>T c.564G>T (p.Trp188Cys) c.498G>T (p.Trp166Cys) c.522G>T (p.Trp174Cys) c.309G>T (p.Trp103Cys) n.605G>T n.793G>T c.417G>T (p.Trp139Cys) n.774G>T c.-256G>T (n.-256G>T)	gnomAD v4
4	g.1001795G>A	CA355962105	IDUA	c.706G>A (p.Gly236Ser) n.762G>A c.565G>A (p.Gly189Ser) c.499G>A (p.Gly167Ser) c.523G>A (p.Gly175Ser) c.310G>A (p.Gly104Ser) n.606G>A n.794G>A c.418G>A (p.Gly140Ser) n.775G>A c.-255G>A (n.-255G>A)
4	g.1001795G>C	CA355962106	IDUA	c.706G>C (p.Gly236Arg) n.762G>C c.565G>C (p.Gly189Arg) c.499G>C (p.Gly167Arg) c.523G>C (p.Gly175Arg) c.310G>C (p.Gly104Arg) n.606G>C n.794G>C c.418G>C (p.Gly140Arg) n.775G>C c.-255G>C (n.-255G>C)
4	g.1001795G>T	CA355962107	IDUA	c.706G>T (p.Gly236Cys) n.762G>T c.565G>T (p.Gly189Cys) c.499G>T (p.Gly167Cys) c.523G>T (p.Gly175Cys) c.310G>T (p.Gly104Cys) n.606G>T n.794G>T c.418G>T (p.Gly140Cys) n.775G>T c.-255G>T (n.-255G>T)
4	g.1001796G>A	CA355962108	IDUA	c.707G>A (p.Gly236Asp) n.763G>A c.566G>A (p.Gly189Asp) c.500G>A (p.Gly167Asp) c.524G>A (p.Gly175Asp) c.311G>A (p.Gly104Asp) n.607G>A n.795G>A c.419G>A (p.Gly140Asp) n.776G>A c.-254G>A (n.-254G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001796G>C	CA355962109	IDUA	c.707G>C (p.Gly236Ala) n.763G>C c.566G>C (p.Gly189Ala) c.500G>C (p.Gly167Ala) c.524G>C (p.Gly175Ala) c.311G>C (p.Gly104Ala) n.607G>C n.795G>C c.419G>C (p.Gly140Ala) n.776G>C c.-254G>C (n.-254G>C)
4	g.1001796G=	CA1433067939	IDUA	c.707G= (p.Gly236=) n.763G= c.566G= (p.Gly189=) c.500G= (p.Gly167=) c.524G= (p.Gly175=) c.311G= (p.Gly104=) n.607G= n.795G= c.419G= (p.Gly140=) n.776G= c.-254G= (n.-254G=)
4	g.1001796G>T	CA355962110	IDUA	c.707G>T (p.Gly236Val) n.763G>T c.566G>T (p.Gly189Val) c.500G>T (p.Gly167Val) c.524G>T (p.Gly175Val) c.311G>T (p.Gly104Val) n.607G>T n.795G>T c.419G>T (p.Gly140Val) n.776G>T c.-254G>T (n.-254G>T)	gnomAD v4
4	g.1001797C>A	CA2802059	IDUA	c.708C>A (p.Gly236=) n.764C>A c.567C>A (p.Gly189=) c.501C>A (p.Gly167=) c.525C>A (p.Gly175=) c.312C>A (p.Gly104=) n.608C>A n.796C>A c.420C>A (p.Gly140=) n.777C>A c.-253C>A (n.-253C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001797C=	CA1433067942	IDUA	c.708C= (p.Gly236=) n.764C= c.567C= (p.Gly189=) c.501C= (p.Gly167=) c.525C= (p.Gly175=) c.312C= (p.Gly104=) n.608C= n.796C= c.420C= (p.Gly140=) n.777C= c.-253C= (n.-253C=)
4	g.1001797C>G	CA438057314	IDUA	c.708C>G (p.Gly236=) n.764C>G c.567C>G (p.Gly189=) c.501C>G (p.Gly167=) c.525C>G (p.Gly175=) c.312C>G (p.Gly104=) n.608C>G n.796C>G c.420C>G (p.Gly140=) n.777C>G c.-253C>G (n.-253C>G)
4	g.1001797C>T	CA438057315	IDUA	c.708C>T (p.Gly236=) n.764C>T c.567C>T (p.Gly189=) c.501C>T (p.Gly167=) c.525C>T (p.Gly175=) c.312C>T (p.Gly104=) n.608C>T n.796C>T c.420C>T (p.Gly140=) n.777C>T c.-253C>T (n.-253C>T)	gnomAD v4
4	g.1001798C>A	CA355962111	IDUA	c.709C>A (p.Leu237Ile) n.765C>A c.568C>A (p.Leu190Ile) c.502C>A (p.Leu168Ile) c.526C>A (p.Leu176Ile) c.313C>A (p.Leu105Ile) n.609C>A n.797C>A c.421C>A (p.Leu141Ile) n.778C>A c.-252C>A (n.-252C>A)	gnomAD v4
4	g.1001798C=	CA1433067945	IDUA	c.709C= (p.Leu237=) n.765C= c.568C= (p.Leu190=) c.502C= (p.Leu168=) c.526C= (p.Leu176=) c.313C= (p.Leu105=) n.609C= n.797C= c.421C= (p.Leu141=) n.778C= c.-252C= (n.-252C=)
4	g.1001798C>G	CA2802061	IDUA	c.709C>G (p.Leu237Val) n.765C>G c.568C>G (p.Leu190Val) c.502C>G (p.Leu168Val) c.526C>G (p.Leu176Val) c.313C>G (p.Leu105Val) n.609C>G n.797C>G c.421C>G (p.Leu141Val) n.778C>G c.-252C>G (n.-252C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001798C>T	CA2802060	IDUA	c.709C>T (p.Leu237Phe) n.765C>T c.568C>T (p.Leu190Phe) c.502C>T (p.Leu168Phe) c.526C>T (p.Leu176Phe) c.313C>T (p.Leu105Phe) n.609C>T n.797C>T c.421C>T (p.Leu141Phe) n.778C>T c.-252C>T (n.-252C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001799T>A	CA2802062	IDUA	c.710T>A (p.Leu237His) n.766T>A c.569T>A (p.Leu190His) c.503T>A (p.Leu168His) c.527T>A (p.Leu176His) c.314T>A (p.Leu105His) n.610T>A n.798T>A c.422T>A (p.Leu141His) n.779T>A c.-251T>A (n.-251T>A)	dbSNP ExAC
4	g.1001799T>C	CA355962112	IDUA	c.710T>C (p.Leu237Pro) n.766T>C c.569T>C (p.Leu190Pro) c.503T>C (p.Leu168Pro) c.527T>C (p.Leu176Pro) c.314T>C (p.Leu105Pro) n.610T>C n.798T>C c.422T>C (p.Leu141Pro) n.779T>C c.-251T>C (n.-251T>C)
4	g.1001799T>G	CA355962113	IDUA	c.710T>G (p.Leu237Arg) n.766T>G c.569T>G (p.Leu190Arg) c.503T>G (p.Leu168Arg) c.527T>G (p.Leu176Arg) c.314T>G (p.Leu105Arg) n.610T>G n.798T>G c.422T>G (p.Leu141Arg) n.779T>G c.-251T>G (n.-251T>G)
4	g.1001799T=	CA1433067949	IDUA	c.710T= (p.Leu237=) n.766T= c.569T= (p.Leu190=) c.503T= (p.Leu168=) c.527T= (p.Leu176=) c.314T= (p.Leu105=) n.610T= n.798T= c.422T= (p.Leu141=) n.779T= c.-251T= (n.-251T=)
4	g.1001800C>A	CA438057316	IDUA	c.711C>A (p.Leu237=) n.767C>A c.570C>A (p.Leu190=) c.504C>A (p.Leu168=) c.528C>A (p.Leu176=) c.315C>A (p.Leu105=) n.611C>A n.799C>A c.423C>A (p.Leu141=) n.780C>A c.-250C>A (n.-250C>A)
4	g.1001800C=	CA1433067953	IDUA	c.711C= (p.Leu237=) n.767C= c.570C= (p.Leu190=) c.504C= (p.Leu168=) c.528C= (p.Leu176=) c.315C= (p.Leu105=) n.611C= n.799C= c.423C= (p.Leu141=) n.780C= c.-250C= (n.-250C=)
4	g.1001800C>G	CA438057317	IDUA	c.711C>G (p.Leu237=) n.767C>G c.570C>G (p.Leu190=) c.504C>G (p.Leu168=) c.528C>G (p.Leu176=) c.315C>G (p.Leu105=) n.611C>G n.799C>G c.423C>G (p.Leu141=) n.780C>G c.-250C>G (n.-250C>G)	dbSNP gnomAD v4
4	g.1001800C>T	CA2802063	IDUA	c.711C>T (p.Leu237=) n.767C>T c.570C>T (p.Leu190=) c.504C>T (p.Leu168=) c.528C>T (p.Leu176=) c.315C>T (p.Leu105=) n.611C>T n.799C>T c.423C>T (p.Leu141=) n.780C>T c.-250C>T (n.-250C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001801C>A	CA355962114	IDUA	c.712C>A (p.Leu238Met) n.768C>A c.571C>A (p.Leu191Met) c.505C>A (p.Leu169Met) c.529C>A (p.Leu177Met) c.316C>A (p.Leu106Met) n.612C>A n.800C>A c.424C>A (p.Leu142Met) n.781C>A c.-249C>A (n.-249C>A)	gnomAD v4
4	g.1001801C>G	CA355962115	IDUA	c.712C>G (p.Leu238Val) n.768C>G c.571C>G (p.Leu191Val) c.505C>G (p.Leu169Val) c.529C>G (p.Leu177Val) c.316C>G (p.Leu106Val) n.612C>G n.800C>G c.424C>G (p.Leu142Val) n.781C>G c.-249C>G (n.-249C>G)
4	g.1001801C>T	CA438057318	IDUA	c.712C>T (p.Leu238=) n.768C>T c.571C>T (p.Leu191=) c.505C>T (p.Leu169=) c.529C>T (p.Leu177=) c.316C>T (p.Leu106=) n.612C>T n.800C>T c.424C>T (p.Leu142=) n.781C>T c.-249C>T (n.-249C>T)	ClinVar
4	g.1001802T>A	CA2802065	IDUA	c.713T>A (p.Leu238Gln) n.769T>A c.572T>A (p.Leu191Gln) c.506T>A (p.Leu169Gln) c.530T>A (p.Leu177Gln) c.317T>A (p.Leu106Gln) n.613T>A n.801T>A c.425T>A (p.Leu142Gln) n.782T>A c.-248T>A (n.-248T>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001802T>C	CA355962116	IDUA	c.713T>C (p.Leu238Pro) n.769T>C c.572T>C (p.Leu191Pro) c.506T>C (p.Leu169Pro) c.530T>C (p.Leu177Pro) c.317T>C (p.Leu106Pro) n.613T>C n.801T>C c.425T>C (p.Leu142Pro) n.782T>C c.-248T>C (n.-248T>C)	ClinVar dbSNP gnomAD v4
4	g.1001802T>G	CA2802064	IDUA	c.713T>G (p.Leu238Arg) n.769T>G c.572T>G (p.Leu191Arg) c.506T>G (p.Leu169Arg) c.530T>G (p.Leu177Arg) c.317T>G (p.Leu106Arg) n.613T>G n.801T>G c.425T>G (p.Leu142Arg) n.782T>G c.-248T>G (n.-248T>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001802T=	CA1433067959	IDUA	c.713T= (p.Leu238=) n.769T= c.572T= (p.Leu191=) c.506T= (p.Leu169=) c.530T= (p.Leu177=) c.317T= (p.Leu106=) n.613T= n.801T= c.425T= (p.Leu142=) n.782T= c.-248T= (n.-248T=)
4	g.1001803G>A	CA438057319	IDUA	c.714G>A (p.Leu238=) n.770G>A c.573G>A (p.Leu191=) c.507G>A (p.Leu169=) c.531G>A (p.Leu177=) c.318G>A (p.Leu106=) n.614G>A n.802G>A c.426G>A (p.Leu142=) n.783G>A c.-247G>A (n.-247G>A)
4	g.1001803G>C	CA438057320	IDUA	c.714G>C (p.Leu238=) n.770G>C c.573G>C (p.Leu191=) c.507G>C (p.Leu169=) c.531G>C (p.Leu177=) c.318G>C (p.Leu106=) n.614G>C n.802G>C c.426G>C (p.Leu142=) n.783G>C c.-247G>C (n.-247G>C)
4	g.1001803G=	CA1433067967	IDUA	c.714G= (p.Leu238=) n.770G= c.573G= (p.Leu191=) c.507G= (p.Leu169=) c.531G= (p.Leu177=) c.318G= (p.Leu106=) n.614G= n.802G= c.426G= (p.Leu142=) n.783G= c.-247G= (n.-247G=)
4	g.1001803G>T	CA438057321	IDUA	c.714G>T (p.Leu238=) n.770G>T c.573G>T (p.Leu191=) c.507G>T (p.Leu169=) c.531G>T (p.Leu177=) c.318G>T (p.Leu106=) n.614G>T n.802G>T c.426G>T (p.Leu142=) n.783G>T c.-247G>T (n.-247G>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.1001803_1001814delinsGCGCCACTGCCA	CA1433067966	IDUA	c.714_725delinsGCGCCACTGCCA (p.Leu238=) n.770_781delinsGCGCCACTGCCA c.573_584delinsGCGCCACTGCCA (p.Leu191=) c.507_518delinsGCGCCACTGCCA (p.Leu169=) c.531_542delinsGCGCCACTGCCA (p.Leu177=) c.318_329delinsGCGCCACTGCCA (p.Leu106=) n.614_625delinsGCGCCACTGCCA n.802_813delinsGCGCCACTGCCA c.426_437delinsGCGCCACTGCCA (p.Leu142=) n.783_794delinsGCGCCACTGCCA c.-247_-236delinsGCGCCACTGCCA (n.-247_-236delinsGCGCCACTGCCA)
4	g.1001804C>A	CA355962117	IDUA	c.715C>A (p.Arg239Ser) n.771C>A c.574C>A (p.Arg192Ser) c.508C>A (p.Arg170Ser) c.532C>A (p.Arg178Ser) c.319C>A (p.Arg107Ser) n.615C>A n.803C>A c.427C>A (p.Arg143Ser) n.784C>A c.-246C>A (n.-246C>A)	ClinVar dbSNP gnomAD v4
4	g.1001804C=	CA1433067975	IDUA	c.715C= (p.Arg239=) n.771C= c.574C= (p.Arg192=) c.508C= (p.Arg170=) c.532C= (p.Arg178=) c.319C= (p.Arg107=) n.615C= n.803C= c.427C= (p.Arg143=) n.784C= c.-246C= (n.-246C=)
4	g.1001804C>G	CA355962118	IDUA	c.715C>G (p.Arg239Gly) n.771C>G c.574C>G (p.Arg192Gly) c.508C>G (p.Arg170Gly) c.532C>G (p.Arg178Gly) c.319C>G (p.Arg107Gly) n.615C>G n.803C>G c.427C>G (p.Arg143Gly) n.784C>G c.-246C>G (n.-246C>G)	gnomAD v4
4	g.1001804C>T	CA355962119	IDUA	c.715C>T (p.Arg239Cys) n.771C>T c.574C>T (p.Arg192Cys) c.508C>T (p.Arg170Cys) c.532C>T (p.Arg178Cys) c.319C>T (p.Arg107Cys) n.615C>T n.803C>T c.427C>T (p.Arg143Cys) n.784C>T c.-246C>T (n.-246C>T)	gnomAD v4 COSMIC COSMIC
4	g.1001806_1001816del	CA549264510	IDUA	c.717_727del (p.His240ArgfsTer?) n.773_783del c.576_586del (p.His193ArgfsTer?) c.510_520del (p.His171ArgfsTer?) c.534_544del (p.His179ArgfsTer?) c.321_331del (p.His108ArgfsTer?) n.617_627del n.805_815del c.429_439del (p.His144ArgfsTer?) n.786_796del c.-244_-234del (n.-244_-234del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001805G>A	CA355962120	IDUA	c.716G>A (p.Arg239His) n.772G>A c.575G>A (p.Arg192His) c.509G>A (p.Arg170His) c.533G>A (p.Arg178His) c.320G>A (p.Arg107His) n.616G>A n.804G>A c.428G>A (p.Arg143His) n.785G>A c.-245G>A (n.-245G>A)	dbSNP gnomAD v2 gnomAD v4
4	g.1001805G>C	CA355962121	IDUA	c.716G>C (p.Arg239Pro) n.772G>C c.575G>C (p.Arg192Pro) c.509G>C (p.Arg170Pro) c.533G>C (p.Arg178Pro) c.320G>C (p.Arg107Pro) n.616G>C n.804G>C c.428G>C (p.Arg143Pro) n.785G>C c.-245G>C (n.-245G>C)	gnomAD v4
4	g.1001805G=	CA1433067981	IDUA	c.716G= (p.Arg239=) n.772G= c.575G= (p.Arg192=) c.509G= (p.Arg170=) c.533G= (p.Arg178=) c.320G= (p.Arg107=) n.616G= n.804G= c.428G= (p.Arg143=) n.785G= c.-245G= (n.-245G=)
4	g.1001805G>T	CA355962122	IDUA	c.716G>T (p.Arg239Leu) n.772G>T c.575G>T (p.Arg192Leu) c.509G>T (p.Arg170Leu) c.533G>T (p.Arg178Leu) c.320G>T (p.Arg107Leu) n.616G>T n.804G>T c.428G>T (p.Arg143Leu) n.785G>T c.-245G>T (n.-245G>T)	gnomAD v4
4	g.1001806C>A	CA438057322	IDUA	c.717C>A (p.Arg239=) n.773C>A c.576C>A (p.Arg192=) c.510C>A (p.Arg170=) c.534C>A (p.Arg178=) c.321C>A (p.Arg107=) n.617C>A n.805C>A c.429C>A (p.Arg143=) n.786C>A c.-244C>A (n.-244C>A)	gnomAD v4
4	g.1001806C>G	CA438057323	IDUA	c.717C>G (p.Arg239=) n.773C>G c.576C>G (p.Arg192=) c.510C>G (p.Arg170=) c.534C>G (p.Arg178=) c.321C>G (p.Arg107=) n.617C>G n.805C>G c.429C>G (p.Arg143=) n.786C>G c.-244C>G (n.-244C>G)
4	g.1001806C>T	CA438057324	IDUA	c.717C>T (p.Arg239=) n.773C>T c.576C>T (p.Arg192=) c.510C>T (p.Arg170=) c.534C>T (p.Arg178=) c.321C>T (p.Arg107=) n.617C>T n.805C>T c.429C>T (p.Arg143=) n.786C>T c.-244C>T (n.-244C>T)	gnomAD v4
4	g.1001807C>A	CA355962123	IDUA	c.718C>A (p.His240Asn) n.774C>A c.577C>A (p.His193Asn) c.511C>A (p.His171Asn) c.535C>A (p.His179Asn) c.322C>A (p.His108Asn) n.618C>A n.806C>A c.430C>A (p.His144Asn) n.787C>A c.-243C>A (n.-243C>A)	ClinVar dbSNP
4	g.1001807C=	CA1433067986	IDUA	c.718C= (p.His240=) n.774C= c.577C= (p.His193=) c.511C= (p.His171=) c.535C= (p.His179=) c.322C= (p.His108=) n.618C= n.806C= c.430C= (p.His144=) n.787C= c.-243C= (n.-243C=)
4	g.1001807C>G	CA355962125	IDUA	c.718C>G (p.His240Asp) n.774C>G c.577C>G (p.His193Asp) c.511C>G (p.His171Asp) c.535C>G (p.His179Asp) c.322C>G (p.His108Asp) n.618C>G n.806C>G c.430C>G (p.His144Asp) n.787C>G c.-243C>G (n.-243C>G)	ClinVar
4	g.1001807C>T	CA355962124	IDUA	c.718C>T (p.His240Tyr) n.774C>T c.577C>T (p.His193Tyr) c.511C>T (p.His171Tyr) c.535C>T (p.His179Tyr) c.322C>T (p.His108Tyr) n.618C>T n.806C>T c.430C>T (p.His144Tyr) n.787C>T c.-243C>T (n.-243C>T)	ClinVar dbSNP
4	g.1001812_1001837del	CA2669479618	IDUA	c.723_748del (p.Cys241TrpfsTer?) n.779_804del c.582_607del (p.Cys194TrpfsTer?) c.540_565del (p.Cys180TrpfsTer?) c.327_352del (p.Cys109TrpfsTer?) n.623_648del n.811_836del c.516_541del (p.Cys172TrpfsTer?) c.435_460del (p.Cys145TrpfsTer?) n.792_817del c.-238_-213del (n.-238_-213del)	gnomAD v4
4	g.1001808A=	CA1433067990	IDUA	c.719A= (p.His240=) n.775A= c.578A= (p.His193=) c.512A= (p.His171=) c.536A= (p.His179=) c.323A= (p.His108=) n.619A= n.807A= c.431A= (p.His144=) n.788A= c.-242A= (n.-242A=)
4	g.1001808A>C	CA355962126	IDUA	c.719A>C (p.His240Pro) n.775A>C c.578A>C (p.His193Pro) c.512A>C (p.His171Pro) c.536A>C (p.His179Pro) c.323A>C (p.His108Pro) n.619A>C n.807A>C c.431A>C (p.His144Pro) n.788A>C c.-242A>C (n.-242A>C)
4	g.1001808A>G	CA355962127	IDUA	c.719A>G (p.His240Arg) n.775A>G c.578A>G (p.His193Arg) c.512A>G (p.His171Arg) c.536A>G (p.His179Arg) c.323A>G (p.His108Arg) n.619A>G n.807A>G c.431A>G (p.His144Arg) n.788A>G c.-242A>G (n.-242A>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001808A>T	CA355962128	IDUA	c.719A>T (p.His240Leu) n.775A>T c.578A>T (p.His193Leu) c.512A>T (p.His171Leu) c.536A>T (p.His179Leu) c.323A>T (p.His108Leu) n.619A>T n.807A>T c.431A>T (p.His144Leu) n.788A>T c.-242A>T (n.-242A>T)	gnomAD v4
4	g.1001809C>A	CA355962129	IDUA	c.720C>A (p.His240Gln) n.776C>A c.579C>A (p.His193Gln) c.513C>A (p.His171Gln) c.537C>A (p.His179Gln) c.324C>A (p.His108Gln) n.620C>A n.808C>A c.432C>A (p.His144Gln) n.789C>A c.-241C>A (n.-241C>A)
4	g.1001809C=	CA1433067997	IDUA	c.720C= (p.His240=) n.776C= c.579C= (p.His193=) c.513C= (p.His171=) c.537C= (p.His179=) c.324C= (p.His108=) n.620C= n.808C= c.432C= (p.His144=) n.789C= c.-241C= (n.-241C=)
4	g.1001809C>G	CA355962130	IDUA	c.720C>G (p.His240Gln) n.776C>G c.579C>G (p.His193Gln) c.513C>G (p.His171Gln) c.537C>G (p.His179Gln) c.324C>G (p.His108Gln) n.620C>G n.808C>G c.432C>G (p.His144Gln) n.789C>G c.-241C>G (n.-241C>G)	ClinVar dbSNP
4	g.1001809C>T	CA438057325	IDUA	c.720C>T (p.His240=) n.776C>T c.579C>T (p.His193=) c.513C>T (p.His171=) c.537C>T (p.His179=) c.324C>T (p.His108=) n.620C>T n.808C>T c.432C>T (p.His144=) n.789C>T c.-241C>T (n.-241C>T)	gnomAD v4
4	g.1001810T>A	CA355962131	IDUA	c.721T>A (p.Cys241Ser) n.777T>A c.580T>A (p.Cys194Ser) c.514T>A (p.Cys172Ser) c.538T>A (p.Cys180Ser) c.325T>A (p.Cys109Ser) n.621T>A n.809T>A c.433T>A (p.Cys145Ser) n.790T>A c.-240T>A (n.-240T>A)
4	g.1001810T>C	CA355962132	IDUA	c.721T>C (p.Cys241Arg) n.777T>C c.580T>C (p.Cys194Arg) c.514T>C (p.Cys172Arg) c.538T>C (p.Cys180Arg) c.325T>C (p.Cys109Arg) n.621T>C n.809T>C c.433T>C (p.Cys145Arg) n.790T>C c.-240T>C (n.-240T>C)	gnomAD v4
4	g.1001810T>G	CA355962133	IDUA	c.721T>G (p.Cys241Gly) n.777T>G c.580T>G (p.Cys194Gly) c.514T>G (p.Cys172Gly) c.538T>G (p.Cys180Gly) c.325T>G (p.Cys109Gly) n.621T>G n.809T>G c.433T>G (p.Cys145Gly) n.790T>G c.-240T>G (n.-240T>G)	gnomAD v4
4	g.1001811G>A	CA355962134	IDUA	c.722G>A (p.Cys241Tyr) n.778G>A c.581G>A (p.Cys194Tyr) c.515G>A (p.Cys172Tyr) c.539G>A (p.Cys180Tyr) c.326G>A (p.Cys109Tyr) n.622G>A n.810G>A c.434G>A (p.Cys145Tyr) n.791G>A c.-239G>A (n.-239G>A)	dbSNP gnomAD v4 COSMIC COSMIC
4	g.1001811G>C	CA355962135	IDUA	c.722G>C (p.Cys241Ser) n.778G>C c.581G>C (p.Cys194Ser) c.515G>C (p.Cys172Ser) c.539G>C (p.Cys180Ser) c.326G>C (p.Cys109Ser) n.622G>C n.810G>C c.434G>C (p.Cys145Ser) n.791G>C c.-239G>C (n.-239G>C)
4	g.1001811G=	CA1433068002	IDUA	c.722G= (p.Cys241=) n.778G= c.581G= (p.Cys194=) c.515G= (p.Cys172=) c.539G= (p.Cys180=) c.326G= (p.Cys109=) n.622G= n.810G= c.434G= (p.Cys145=) n.791G= c.-239G= (n.-239G=)
4	g.1001811G>T	CA355962136	IDUA	c.722G>T (p.Cys241Phe) n.778G>T c.581G>T (p.Cys194Phe) c.515G>T (p.Cys172Phe) c.539G>T (p.Cys180Phe) c.326G>T (p.Cys109Phe) n.622G>T n.810G>T c.434G>T (p.Cys145Phe) n.791G>T c.-239G>T (n.-239G>T)	gnomAD v4
4	g.1001811_1001812delinsAA	CA2697557038	IDUA	c.722_723delinsAA (p.Cys241Ter) n.778_779delinsAA c.581_582delinsAA (p.Cys194Ter) c.515_516delinsAA (p.Cys172Ter) c.539_540delinsAA (p.Cys180Ter) c.326_327delinsAA (p.Cys109Ter) n.622_623delinsAA n.810_811delinsAA c.434_435delinsAA (p.Cys145Ter) n.791_792delinsAA c.-239_-238delinsAA (n.-239_-238delinsAA)	ClinVar
4	g.1001812C>A	CA355962137	IDUA	c.723C>A (p.Cys241Ter) n.779C>A c.582C>A (p.Cys194Ter) c.516C>A (p.Cys172Ter) c.540C>A (p.Cys180Ter) c.327C>A (p.Cys109Ter) n.623C>A n.811C>A c.435C>A (p.Cys145Ter) n.792C>A c.-238C>A (n.-238C>A)	dbSNP
4	g.1001812C=	CA1433068005	IDUA	c.723C= (p.Cys241=) n.779C= c.582C= (p.Cys194=) c.516C= (p.Cys172=) c.540C= (p.Cys180=) c.327C= (p.Cys109=) n.623C= n.811C= c.435C= (p.Cys145=) n.792C= c.-238C= (n.-238C=)
4	g.1001812C>G	CA355962138	IDUA	c.723C>G (p.Cys241Trp) n.779C>G c.582C>G (p.Cys194Trp) c.516C>G (p.Cys172Trp) c.540C>G (p.Cys180Trp) c.327C>G (p.Cys109Trp) n.623C>G n.811C>G c.435C>G (p.Cys145Trp) n.792C>G c.-238C>G (n.-238C>G)
4	g.1001812C>T	CA438057326	IDUA	c.723C>T (p.Cys241=) n.779C>T c.582C>T (p.Cys194=) c.516C>T (p.Cys172=) c.540C>T (p.Cys180=) c.327C>T (p.Cys109=) n.623C>T n.811C>T c.435C>T (p.Cys145=) n.792C>T c.-238C>T (n.-238C>T)	gnomAD v4
4	g.1001813C>A	CA355962139	IDUA	c.724C>A (p.His242Asn) n.780C>A c.583C>A (p.His195Asn) c.517C>A (p.His173Asn) c.541C>A (p.His181Asn) c.328C>A (p.His110Asn) n.624C>A n.812C>A c.436C>A (p.His146Asn) n.793C>A c.-237C>A (n.-237C>A)
4	g.1001813C>G	CA355962141	IDUA	c.724C>G (p.His242Asp) n.780C>G c.583C>G (p.His195Asp) c.517C>G (p.His173Asp) c.541C>G (p.His181Asp) c.328C>G (p.His110Asp) n.624C>G n.812C>G c.436C>G (p.His146Asp) n.793C>G c.-237C>G (n.-237C>G)
4	g.1001813C>T	CA355962140	IDUA	c.724C>T (p.His242Tyr) n.780C>T c.583C>T (p.His195Tyr) c.517C>T (p.His173Tyr) c.541C>T (p.His181Tyr) c.328C>T (p.His110Tyr) n.624C>T n.812C>T c.436C>T (p.His146Tyr) n.793C>T c.-237C>T (n.-237C>T)
4	g.1001814A>C	CA355962142	IDUA	c.725A>C (p.His242Pro) n.781A>C c.584A>C (p.His195Pro) c.518A>C (p.His173Pro) c.542A>C (p.His181Pro) c.329A>C (p.His110Pro) n.625A>C n.813A>C c.437A>C (p.His146Pro) n.794A>C c.-236A>C (n.-236A>C)
4	g.1001814A>G	CA355962144	IDUA	c.725A>G (p.His242Arg) n.781A>G c.584A>G (p.His195Arg) c.518A>G (p.His173Arg) c.542A>G (p.His181Arg) c.329A>G (p.His110Arg) n.625A>G n.813A>G c.437A>G (p.His146Arg) n.794A>G c.-236A>G (n.-236A>G)
4	g.1001814A>T	CA355962143	IDUA	c.725A>T (p.His242Leu) n.781A>T c.584A>T (p.His195Leu) c.518A>T (p.His173Leu) c.542A>T (p.His181Leu) c.329A>T (p.His110Leu) n.625A>T n.813A>T c.437A>T (p.His146Leu) n.794A>T c.-236A>T (n.-236A>T)
4	g.1001815C>A	CA355962145	IDUA	c.726C>A (p.His242Gln) n.782C>A c.585C>A (p.His195Gln) c.519C>A (p.His173Gln) c.543C>A (p.His181Gln) c.330C>A (p.His110Gln) n.626C>A n.814C>A c.438C>A (p.His146Gln) n.795C>A c.-235C>A (n.-235C>A)	ClinVar gnomAD v4
4	g.1001815C>G	CA355962146	IDUA	c.726C>G (p.His242Gln) n.782C>G c.585C>G (p.His195Gln) c.519C>G (p.His173Gln) c.543C>G (p.His181Gln) c.330C>G (p.His110Gln) n.626C>G n.814C>G c.438C>G (p.His146Gln) n.795C>G c.-235C>G (n.-235C>G)
4	g.1001815C>T	CA438057327	IDUA	c.726C>T (p.His242=) n.782C>T c.585C>T (p.His195=) c.519C>T (p.His173=) c.543C>T (p.His181=) c.330C>T (p.His110=) n.626C>T n.814C>T c.438C>T (p.His146=) n.795C>T c.-235C>T (n.-235C>T)	gnomAD v4
4	g.1001816G>A	CA355962147	IDUA	c.727G>A (p.Asp243Asn) n.783G>A c.586G>A (p.Asp196Asn) c.520G>A (p.Asp174Asn) c.544G>A (p.Asp182Asn) c.331G>A (p.Asp111Asn) n.627G>A n.815G>A c.439G>A (p.Asp147Asn) n.796G>A c.-234G>A (n.-234G>A)	ClinVar dbSNP gnomAD v4
4	g.1001816G>C	CA355962149	IDUA	c.727G>C (p.Asp243His) n.783G>C c.586G>C (p.Asp196His) c.520G>C (p.Asp174His) c.544G>C (p.Asp182His) c.331G>C (p.Asp111His) n.627G>C n.815G>C c.439G>C (p.Asp147His) n.796G>C c.-234G>C (n.-234G>C)	dbSNP gnomAD v4
4	g.1001816G=	CA1433068008	IDUA	c.727G= (p.Asp243=) n.783G= c.586G= (p.Asp196=) c.520G= (p.Asp174=) c.544G= (p.Asp182=) c.331G= (p.Asp111=) n.627G= n.815G= c.439G= (p.Asp147=) n.796G= c.-234G= (n.-234G=)
4	g.1001816G>T	CA355962148	IDUA	c.727G>T (p.Asp243Tyr) n.783G>T c.586G>T (p.Asp196Tyr) c.520G>T (p.Asp174Tyr) c.544G>T (p.Asp182Tyr) c.331G>T (p.Asp111Tyr) n.627G>T n.815G>T c.439G>T (p.Asp147Tyr) n.796G>T c.-234G>T (n.-234G>T)	gnomAD v4
4	g.1001817A=	CA1433068010	IDUA	c.728A= (p.Asp243=) n.784A= c.587A= (p.Asp196=) c.521A= (p.Asp174=) c.545A= (p.Asp182=) c.332A= (p.Asp111=) n.628A= n.816A= c.440A= (p.Asp147=) n.797A= c.-233A= (n.-233A=)
4	g.1001817A>C	CA355962150	IDUA	c.728A>C (p.Asp243Ala) n.784A>C c.587A>C (p.Asp196Ala) c.521A>C (p.Asp174Ala) c.545A>C (p.Asp182Ala) c.332A>C (p.Asp111Ala) n.628A>C n.816A>C c.440A>C (p.Asp147Ala) n.797A>C c.-233A>C (n.-233A>C)
4	g.1001817A>G	CA355962151	IDUA	c.728A>G (p.Asp243Gly) n.784A>G c.587A>G (p.Asp196Gly) c.521A>G (p.Asp174Gly) c.545A>G (p.Asp182Gly) c.332A>G (p.Asp111Gly) n.628A>G n.816A>G c.440A>G (p.Asp147Gly) n.797A>G c.-233A>G (n.-233A>G)	dbSNP gnomAD v2 gnomAD v4
4	g.1001817A>T	CA355962152	IDUA	c.728A>T (p.Asp243Val) n.784A>T c.587A>T (p.Asp196Val) c.521A>T (p.Asp174Val) c.545A>T (p.Asp182Val) c.332A>T (p.Asp111Val) n.628A>T n.816A>T c.440A>T (p.Asp147Val) n.797A>T c.-233A>T (n.-233A>T)
4	g.1001818C>A	CA2802066	IDUA	c.729C>A (p.Asp243Glu) n.785C>A c.588C>A (p.Asp196Glu) c.522C>A (p.Asp174Glu) c.546C>A (p.Asp182Glu) c.333C>A (p.Asp111Glu) n.629C>A n.817C>A c.441C>A (p.Asp147Glu) n.798C>A c.-232C>A (n.-232C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001818C=	CA1433068014	IDUA	c.729C= (p.Asp243=) n.785C= c.588C= (p.Asp196=) c.522C= (p.Asp174=) c.546C= (p.Asp182=) c.333C= (p.Asp111=) n.629C= n.817C= c.441C= (p.Asp147=) n.798C= c.-232C= (n.-232C=)
4	g.1001818C>G	CA355962153	IDUA	c.729C>G (p.Asp243Glu) n.785C>G c.588C>G (p.Asp196Glu) c.522C>G (p.Asp174Glu) c.546C>G (p.Asp182Glu) c.333C>G (p.Asp111Glu) n.629C>G n.817C>G c.441C>G (p.Asp147Glu) n.798C>G c.-232C>G (n.-232C>G)
4	g.1001818C>T	CA438057328	IDUA	c.729C>T (p.Asp243=) n.785C>T c.588C>T (p.Asp196=) c.522C>T (p.Asp174=) c.546C>T (p.Asp182=) c.333C>T (p.Asp111=) n.629C>T n.817C>T c.441C>T (p.Asp147=) n.798C>T c.-232C>T (n.-232C>T)	dbSNP gnomAD v2 gnomAD v4
4	g.1001819G>A	CA355962154	IDUA	c.730G>A (p.Gly244Ser) n.786G>A c.589G>A (p.Gly197Ser) c.523G>A (p.Gly175Ser) c.547G>A (p.Gly183Ser) c.334G>A (p.Gly112Ser) n.630G>A n.818G>A c.442G>A (p.Gly148Ser) n.799G>A c.-231G>A (n.-231G>A)	gnomAD v4
4	g.1001819G>C	CA355962155	IDUA	c.730G>C (p.Gly244Arg) n.786G>C c.589G>C (p.Gly197Arg) c.523G>C (p.Gly175Arg) c.547G>C (p.Gly183Arg) c.334G>C (p.Gly112Arg) n.630G>C n.818G>C c.442G>C (p.Gly148Arg) n.799G>C c.-231G>C (n.-231G>C)
4	g.1001819G>T	CA355962156	IDUA	c.730G>T (p.Gly244Cys) n.786G>T c.589G>T (p.Gly197Cys) c.523G>T (p.Gly175Cys) c.547G>T (p.Gly183Cys) c.334G>T (p.Gly112Cys) n.630G>T n.818G>T c.442G>T (p.Gly148Cys) n.799G>T c.-231G>T (n.-231G>T)	gnomAD v4
4	g.1001820G>A	CA2802067	IDUA	c.731G>A (p.Gly244Asp) n.787G>A c.590G>A (p.Gly197Asp) c.524G>A (p.Gly175Asp) c.548G>A (p.Gly183Asp) c.335G>A (p.Gly112Asp) n.631G>A n.819G>A c.443G>A (p.Gly148Asp) n.800G>A c.-230G>A (n.-230G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001820G>C	CA91168002	IDUA	c.731G>C (p.Gly244Ala) n.787G>C c.590G>C (p.Gly197Ala) c.524G>C (p.Gly175Ala) c.548G>C (p.Gly183Ala) c.335G>C (p.Gly112Ala) n.631G>C n.819G>C c.443G>C (p.Gly148Ala) n.800G>C c.-230G>C (n.-230G>C)	dbSNP
4	g.1001820G=	CA1433068019	IDUA	c.731G= (p.Gly244=) n.787G= c.590G= (p.Gly197=) c.524G= (p.Gly175=) c.548G= (p.Gly183=) c.335G= (p.Gly112=) n.631G= n.819G= c.443G= (p.Gly148=) n.800G= c.-230G= (n.-230G=)
4	g.1001820G>T	CA2802068	IDUA	c.731G>T (p.Gly244Val) n.787G>T c.590G>T (p.Gly197Val) c.524G>T (p.Gly175Val) c.548G>T (p.Gly183Val) c.335G>T (p.Gly112Val) n.631G>T n.819G>T c.443G>T (p.Gly148Val) n.800G>T c.-230G>T (n.-230G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001821T>A	CA438057329	IDUA	c.732T>A (p.Gly244=) n.788T>A c.591T>A (p.Gly197=) c.525T>A (p.Gly175=) c.549T>A (p.Gly183=) c.336T>A (p.Gly112=) n.632T>A n.820T>A c.444T>A (p.Gly148=) n.801T>A c.-229T>A (n.-229T>A)
4	g.1001821T>C	CA438057330	IDUA	c.732T>C (p.Gly244=) n.788T>C c.591T>C (p.Gly197=) c.525T>C (p.Gly175=) c.549T>C (p.Gly183=) c.336T>C (p.Gly112=) n.632T>C n.820T>C c.444T>C (p.Gly148=) n.801T>C c.-229T>C (n.-229T>C)	gnomAD v4
4	g.1001821T>G	CA438057331	IDUA	c.732T>G (p.Gly244=) n.788T>G c.591T>G (p.Gly197=) c.525T>G (p.Gly175=) c.549T>G (p.Gly183=) c.336T>G (p.Gly112=) n.632T>G n.820T>G c.444T>G (p.Gly148=) n.801T>G c.-229T>G (n.-229T>G)
4	g.1001822A>C	CA355962159	IDUA	c.733A>C (p.Thr245Pro) n.789A>C c.592A>C (p.Thr198Pro) c.526A>C (p.Thr176Pro) c.550A>C (p.Thr184Pro) c.337A>C (p.Thr113Pro) n.633A>C n.821A>C c.445A>C (p.Thr149Pro) n.802A>C c.-228A>C (n.-228A>C)
4	g.1001822A>G	CA355962157	IDUA	c.733A>G (p.Thr245Ala) n.789A>G c.592A>G (p.Thr198Ala) c.526A>G (p.Thr176Ala) c.550A>G (p.Thr184Ala) c.337A>G (p.Thr113Ala) n.633A>G n.821A>G c.445A>G (p.Thr149Ala) n.802A>G c.-228A>G (n.-228A>G)
4	g.1001822A>T	CA355962158	IDUA	c.733A>T (p.Thr245Ser) n.789A>T c.592A>T (p.Thr198Ser) c.526A>T (p.Thr176Ser) c.550A>T (p.Thr184Ser) c.337A>T (p.Thr113Ser) n.633A>T n.821A>T c.445A>T (p.Thr149Ser) n.802A>T c.-228A>T (n.-228A>T)
4	g.1001823C>A	CA355962160	IDUA	c.734C>A (p.Thr245Asn) n.790C>A c.593C>A (p.Thr198Asn) c.527C>A (p.Thr176Asn) c.551C>A (p.Thr184Asn) c.338C>A (p.Thr113Asn) n.634C>A n.822C>A c.446C>A (p.Thr149Asn) n.803C>A c.-227C>A (n.-227C>A)	gnomAD v4
4	g.1001823C=	CA1433068022	IDUA	c.734C= (p.Thr245=) n.790C= c.593C= (p.Thr198=) c.527C= (p.Thr176=) c.551C= (p.Thr184=) c.338C= (p.Thr113=) n.634C= n.822C= c.446C= (p.Thr149=) n.803C= c.-227C= (n.-227C=)
4	g.1001823C>G	CA355962161	IDUA	c.734C>G (p.Thr245Ser) n.790C>G c.593C>G (p.Thr198Ser) c.527C>G (p.Thr176Ser) c.551C>G (p.Thr184Ser) c.338C>G (p.Thr113Ser) n.634C>G n.822C>G c.446C>G (p.Thr149Ser) n.803C>G c.-227C>G (n.-227C>G)	gnomAD v4
4	g.1001823C>T	CA355962162	IDUA	c.734C>T (p.Thr245Ile) n.790C>T c.593C>T (p.Thr198Ile) c.527C>T (p.Thr176Ile) c.551C>T (p.Thr184Ile) c.338C>T (p.Thr113Ile) n.634C>T n.822C>T c.446C>T (p.Thr149Ile) n.803C>T c.-227C>T (n.-227C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.1001824C>A	CA438057332	IDUA	c.735C>A (p.Thr245=) n.791C>A c.594C>A (p.Thr198=) c.528C>A (p.Thr176=) c.552C>A (p.Thr184=) c.339C>A (p.Thr113=) n.635C>A n.823C>A c.447C>A (p.Thr149=) n.804C>A c.-226C>A (n.-226C>A)	COSMIC COSMIC
4	g.1001824C=	CA1433068027	IDUA	c.735C= (p.Thr245=) n.791C= c.594C= (p.Thr198=) c.528C= (p.Thr176=) c.552C= (p.Thr184=) c.339C= (p.Thr113=) n.635C= n.823C= c.447C= (p.Thr149=) n.804C= c.-226C= (n.-226C=)
4	g.1001824C>G	CA2802069	IDUA	c.735C>G (p.Thr245=) n.791C>G c.594C>G (p.Thr198=) c.528C>G (p.Thr176=) c.552C>G (p.Thr184=) c.339C>G (p.Thr113=) n.635C>G n.823C>G c.447C>G (p.Thr149=) n.804C>G c.-226C>G (n.-226C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001824C>T	CA438057333	IDUA	c.735C>T (p.Thr245=) n.791C>T c.594C>T (p.Thr198=) c.528C>T (p.Thr176=) c.552C>T (p.Thr184=) c.339C>T (p.Thr113=) n.635C>T n.823C>T c.447C>T (p.Thr149=) n.804C>T c.-226C>T (n.-226C>T)	ClinVar gnomAD v4
4	g.1001824_1001825delinsCA	CA1433068030	IDUA	c.735_736delinsCA (p.Thr245=) n.791_792delinsCA c.594_595delinsCA (p.Thr198=) c.528_529delinsCA (p.Thr176=) c.552_553delinsCA (p.Thr184=) c.339_340delinsCA (p.Thr113=) n.635_636delinsCA n.823_824delinsCA c.447_448delinsCA (p.Thr149=) n.804_805delinsCA c.-226_-225delinsCA (n.-226_-225delinsCA)
4	g.1001825A>C	CA355962163	IDUA	c.736A>C (p.Asn246His) n.792A>C c.595A>C (p.Asn199His) c.529A>C c.553A>C (p.Asn185His) c.340A>C (p.Asn114His) n.636A>C n.824A>C c.529A>C (p.Asn177His) c.448A>C (p.Asn150His) n.805A>C c.-225A>C (n.-225A>C)
4	g.1001825A>G	CA355962164	IDUA	c.736A>G (p.Asn246Asp) n.792A>G c.595A>G (p.Asn199Asp) c.529A>G c.553A>G (p.Asn185Asp) c.340A>G (p.Asn114Asp) n.636A>G n.824A>G c.529A>G (p.Asn177Asp) c.448A>G (p.Asn150Asp) n.805A>G c.-225A>G (n.-225A>G)
4	g.1001825A>T	CA355962165	IDUA	c.736A>T (p.Asn246Tyr) n.792A>T c.595A>T (p.Asn199Tyr) c.529A>T c.553A>T (p.Asn185Tyr) c.340A>T (p.Asn114Tyr) n.636A>T n.824A>T c.529A>T (p.Asn177Tyr) c.448A>T (p.Asn150Tyr) n.805A>T c.-225A>T (n.-225A>T)
4	g.1001826del	CA1433068035	IDUA	c.737del (p.Asn246ThrfsTer?) n.793del c.596del (p.Asn199ThrfsTer?) c.554del (p.Asn185ThrfsTer?) c.341del (p.Asn114ThrfsTer?) n.637del n.825del c.530del (p.Asn177ThrfsTer?) c.449del (p.Asn150ThrfsTer?) n.806del c.-224del (n.-224del)	dbSNP
4	g.1001826A=	CA1433068042	IDUA	c.737A= (p.Asn246=) n.793A= c.596A= (p.Asn199=) c.554A= (p.Asn185=) c.341A= (p.Asn114=) n.637A= n.825A= c.530A= (p.Asn177=) c.449A= (p.Asn150=) n.806A= c.-224A= (n.-224A=)
4	g.1001826A>C	CA355962166	IDUA	c.737A>C (p.Asn246Thr) n.793A>C c.596A>C (p.Asn199Thr) c.554A>C (p.Asn185Thr) c.341A>C (p.Asn114Thr) n.637A>C n.825A>C c.530A>C (p.Asn177Thr) c.449A>C (p.Asn150Thr) n.806A>C c.-224A>C (n.-224A>C)
4	g.1001826A>G	CA355962167	IDUA	c.737A>G (p.Asn246Ser) n.793A>G c.596A>G (p.Asn199Ser) c.554A>G (p.Asn185Ser) c.341A>G (p.Asn114Ser) n.637A>G n.825A>G c.530A>G (p.Asn177Ser) c.449A>G (p.Asn150Ser) n.806A>G c.-224A>G (n.-224A>G)	dbSNP
4	g.1001826A>T	CA355962168	IDUA	c.737A>T (p.Asn246Ile) n.793A>T c.596A>T (p.Asn199Ile) c.554A>T (p.Asn185Ile) c.341A>T (p.Asn114Ile) n.637A>T n.825A>T c.530A>T (p.Asn177Ile) c.449A>T (p.Asn150Ile) n.806A>T c.-224A>T (n.-224A>T)
4	g.1001826_1001829del	CA913108034	IDUA	c.737_740del (p.Asn246ThrfsTer?) n.793_796del c.596_599del (p.Asn199ThrfsTer?) c.554_557del (p.Asn185ThrfsTer?) c.341_344del (p.Asn114ThrfsTer?) n.637_640del n.825_828del c.530_533del (p.Asn177ThrfsTer?) c.449_452del (p.Asn150ThrfsTer?) n.806_809del c.-224_-221del (n.-224_-221del)
4	g.1001826_1001829delinsACTT	CA1433068040	IDUA	c.737_740delinsACTT (p.Asn246=) n.793_796delinsACTT c.596_599delinsACTT (p.Asn199=) c.554_557delinsACTT (p.Asn185=) c.341_344delinsACTT (p.Asn114=) n.637_640delinsACTT n.825_828delinsACTT c.530_533delinsACTT (p.Asn177=) c.449_452delinsACTT (p.Asn150=) n.806_809delinsACTT c.-224_-221delinsACTT (n.-224_-221delinsACTT)
4	g.1001827C>A	CA355962169	IDUA	c.738C>A (p.Asn246Lys) n.794C>A c.597C>A (p.Asn199Lys) c.555C>A (p.Asn185Lys) c.342C>A (p.Asn114Lys) n.638C>A n.826C>A c.531C>A (p.Asn177Lys) c.450C>A (p.Asn150Lys) n.807C>A c.-223C>A (n.-223C>A)
4	g.1001827C>G	CA355962170	IDUA	c.738C>G (p.Asn246Lys) n.794C>G c.597C>G (p.Asn199Lys) c.555C>G (p.Asn185Lys) c.342C>G (p.Asn114Lys) n.638C>G n.826C>G c.531C>G (p.Asn177Lys) c.450C>G (p.Asn150Lys) n.807C>G c.-223C>G (n.-223C>G)
4	g.1001827C>T	CA438057334	IDUA	c.738C>T (p.Asn246=) n.794C>T c.597C>T (p.Asn199=) c.555C>T (p.Asn185=) c.342C>T (p.Asn114=) n.638C>T n.826C>T c.531C>T (p.Asn177=) c.450C>T (p.Asn150=) n.807C>T c.-223C>T (n.-223C>T)	gnomAD v4
4	g.1001831_1001833del	CA2802070	IDUA	c.742_744del (p.Phe248del) n.798_800del c.601_603del (p.Phe201del) c.559_561del (p.Phe187del) c.346_348del (p.Phe116del) n.642_644del n.830_832del c.535_537del (p.Phe179del) c.454_456del (p.Phe152del) n.811_813del c.-219_-217del (n.-219_-217del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001828T>A	CA355962171	IDUA	c.739T>A (p.Phe247Ile) n.795T>A c.598T>A (p.Phe200Ile) c.556T>A (p.Phe186Ile) c.343T>A (p.Phe115Ile) n.639T>A n.827T>A c.532T>A (p.Phe178Ile) c.451T>A (p.Phe151Ile) n.808T>A c.-222T>A (n.-222T>A)
4	g.1001828T>C	CA355962172	IDUA	c.739T>C (p.Phe247Leu) n.795T>C c.598T>C (p.Phe200Leu) c.556T>C (p.Phe186Leu) c.343T>C (p.Phe115Leu) n.639T>C n.827T>C c.532T>C (p.Phe178Leu) c.451T>C (p.Phe151Leu) n.808T>C c.-222T>C (n.-222T>C)	dbSNP gnomAD v2 gnomAD v4
4	g.1001828T>G	CA355962173	IDUA	c.739T>G (p.Phe247Val) n.795T>G c.598T>G (p.Phe200Val) c.556T>G (p.Phe186Val) c.343T>G (p.Phe115Val) n.639T>G n.827T>G c.532T>G (p.Phe178Val) c.451T>G (p.Phe151Val) n.808T>G c.-222T>G (n.-222T>G)
4	g.1001828T=	CA1433068050	IDUA	c.739T= (p.Phe247=) n.795T= c.598T= (p.Phe200=) c.556T= (p.Phe186=) c.343T= (p.Phe115=) n.639T= n.827T= c.532T= (p.Phe178=) c.451T= (p.Phe151=) n.808T= c.-222T= (n.-222T=)
4	g.1001829T>A	CA355962174	IDUA	c.740T>A (p.Phe247Tyr) n.796T>A c.599T>A (p.Phe200Tyr) c.557T>A (p.Phe186Tyr) c.344T>A (p.Phe115Tyr) n.640T>A n.828T>A c.533T>A (p.Phe178Tyr) c.452T>A (p.Phe151Tyr) n.809T>A c.-221T>A (n.-221T>A)
4	g.1001829T>C	CA355962175	IDUA	c.740T>C (p.Phe247Ser) n.796T>C c.599T>C (p.Phe200Ser) c.557T>C (p.Phe186Ser) c.344T>C (p.Phe115Ser) n.640T>C n.828T>C c.533T>C (p.Phe178Ser) c.452T>C (p.Phe151Ser) n.809T>C c.-221T>C (n.-221T>C)
4	g.1001829T>G	CA355962176	IDUA	c.740T>G (p.Phe247Cys) n.796T>G c.599T>G (p.Phe200Cys) c.557T>G (p.Phe186Cys) c.344T>G (p.Phe115Cys) n.640T>G n.828T>G c.533T>G (p.Phe178Cys) c.452T>G (p.Phe151Cys) n.809T>G c.-221T>G (n.-221T>G)
4	g.1001830C>A	CA2802071	IDUA	c.741C>A (p.Phe247Leu) n.797C>A c.600C>A (p.Phe200Leu) c.558C>A (p.Phe186Leu) c.345C>A (p.Phe115Leu) n.641C>A n.829C>A c.534C>A (p.Phe178Leu) c.453C>A (p.Phe151Leu) n.810C>A c.-220C>A (n.-220C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001830C=	CA1433068053	IDUA	c.741C= (p.Phe247=) n.797C= c.600C= (p.Phe200=) c.558C= (p.Phe186=) c.345C= (p.Phe115=) n.641C= n.829C= c.534C= (p.Phe178=) c.453C= (p.Phe151=) n.810C= c.-220C= (n.-220C=)
4	g.1001830C>G	CA355962177	IDUA	c.741C>G (p.Phe247Leu) n.797C>G c.600C>G (p.Phe200Leu) c.558C>G (p.Phe186Leu) c.345C>G (p.Phe115Leu) n.641C>G n.829C>G c.534C>G (p.Phe178Leu) c.453C>G (p.Phe151Leu) n.810C>G c.-220C>G (n.-220C>G)
4	g.1001830C>T	CA438057335	IDUA	c.741C>T (p.Phe247=) n.797C>T c.600C>T (p.Phe200=) c.558C>T (p.Phe186=) c.345C>T (p.Phe115=) n.641C>T n.829C>T c.534C>T (p.Phe178=) c.453C>T (p.Phe151=) n.810C>T c.-220C>T (n.-220C>T)
4	g.1001831T>A	CA355962178	IDUA	c.742T>A (p.Phe248Ile) n.798T>A c.601T>A (p.Phe201Ile) c.559T>A (p.Phe187Ile) c.346T>A (p.Phe116Ile) n.642T>A n.830T>A c.535T>A (p.Phe179Ile) c.454T>A (p.Phe152Ile) n.811T>A c.-219T>A (n.-219T>A)
4	g.1001831T>C	CA355962179	IDUA	c.742T>C (p.Phe248Leu) n.798T>C c.601T>C (p.Phe201Leu) c.559T>C (p.Phe187Leu) c.346T>C (p.Phe116Leu) n.642T>C n.830T>C c.535T>C (p.Phe179Leu) c.454T>C (p.Phe152Leu) n.811T>C c.-219T>C (n.-219T>C)
4	g.1001831T>G	CA355962180	IDUA	c.742T>G (p.Phe248Val) n.798T>G c.601T>G (p.Phe201Val) c.559T>G (p.Phe187Val) c.346T>G (p.Phe116Val) n.642T>G n.830T>G c.535T>G (p.Phe179Val) c.454T>G (p.Phe152Val) n.811T>G c.-219T>G (n.-219T>G)
4	g.1001832T>A	CA355962181	IDUA	c.743T>A (p.Phe248Tyr) n.799T>A c.602T>A (p.Phe201Tyr) c.560T>A (p.Phe187Tyr) c.347T>A (p.Phe116Tyr) n.643T>A n.831T>A c.536T>A (p.Phe179Tyr) c.455T>A (p.Phe152Tyr) n.812T>A c.-218T>A (n.-218T>A)
4	g.1001832T>C	CA355962182	IDUA	c.743T>C (p.Phe248Ser) n.799T>C c.602T>C (p.Phe201Ser) c.560T>C (p.Phe187Ser) c.347T>C (p.Phe116Ser) n.643T>C n.831T>C c.536T>C (p.Phe179Ser) c.455T>C (p.Phe152Ser) n.812T>C c.-218T>C (n.-218T>C)
4	g.1001832T>G	CA355962183	IDUA	c.743T>G (p.Phe248Cys) n.799T>G c.602T>G (p.Phe201Cys) c.560T>G (p.Phe187Cys) c.347T>G (p.Phe116Cys) n.643T>G n.831T>G c.536T>G (p.Phe179Cys) c.455T>G (p.Phe152Cys) n.812T>G c.-218T>G (n.-218T>G)	dbSNP gnomAD v3
4	g.1001833C>A	CA355962184	IDUA	c.744C>A (p.Phe248Leu) n.800C>A c.603C>A (p.Phe201Leu) c.561C>A (p.Phe187Leu) c.348C>A (p.Phe116Leu) n.644C>A n.832C>A c.537C>A (p.Phe179Leu) c.456C>A (p.Phe152Leu) n.813C>A c.-217C>A (n.-217C>A)	gnomAD v4
4	g.1001833C=	CA1433068058	IDUA	c.744C= (p.Phe248=) n.800C= c.603C= (p.Phe201=) c.561C= (p.Phe187=) c.348C= (p.Phe116=) n.644C= n.832C= c.537C= (p.Phe179=) c.456C= (p.Phe152=) n.813C= c.-217C= (n.-217C=)
4	g.1001833C>G	CA355962185	IDUA	c.744C>G (p.Phe248Leu) n.800C>G c.603C>G (p.Phe201Leu) c.561C>G (p.Phe187Leu) c.348C>G (p.Phe116Leu) n.644C>G n.832C>G c.537C>G (p.Phe179Leu) c.456C>G (p.Phe152Leu) n.813C>G c.-217C>G (n.-217C>G)	COSMIC COSMIC
4	g.1001833C>T	CA2802072	IDUA	c.744C>T (p.Phe248=) n.800C>T c.603C>T (p.Phe201=) c.561C>T (p.Phe187=) c.348C>T (p.Phe116=) n.644C>T n.832C>T c.537C>T (p.Phe179=) c.456C>T (p.Phe152=) n.813C>T c.-217C>T (n.-217C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001834A>C	CA355962186	IDUA	c.745A>C (p.Thr249Pro) n.801A>C c.604A>C (p.Thr202Pro) c.562A>C (p.Thr188Pro) c.349A>C (p.Thr117Pro) n.645A>C n.833A>C c.538A>C (p.Thr180Pro) c.457A>C (p.Thr153Pro) n.814A>C c.-216A>C (n.-216A>C)
4	g.1001834A>G	CA355962187	IDUA	c.745A>G (p.Thr249Ala) n.801A>G c.604A>G (p.Thr202Ala) c.562A>G (p.Thr188Ala) c.349A>G (p.Thr117Ala) n.645A>G n.833A>G c.538A>G (p.Thr180Ala) c.457A>G (p.Thr153Ala) n.814A>G c.-216A>G (n.-216A>G)
4	g.1001834A>T	CA355962188	IDUA	c.745A>T (p.Thr249Ser) n.801A>T c.604A>T (p.Thr202Ser) c.562A>T (p.Thr188Ser) c.349A>T (p.Thr117Ser) n.645A>T n.833A>T c.538A>T (p.Thr180Ser) c.457A>T (p.Thr153Ser) n.814A>T c.-216A>T (n.-216A>T)
4	g.1001835C>A	CA2802074	IDUA	c.746C>A (p.Thr249Asn) n.802C>A c.605C>A (p.Thr202Asn) c.563C>A (p.Thr188Asn) c.350C>A (p.Thr117Asn) n.646C>A n.834C>A c.539C>A (p.Thr180Asn) c.458C>A (p.Thr153Asn) n.815C>A c.-215C>A (n.-215C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001835C=	CA1433068060	IDUA	c.746C= (p.Thr249=) n.802C= c.605C= (p.Thr202=) c.563C= (p.Thr188=) c.350C= (p.Thr117=) n.646C= n.834C= c.539C= (p.Thr180=) c.458C= (p.Thr153=) n.815C= c.-215C= (n.-215C=)
4	g.1001835C>G	CA355962189	IDUA	c.746C>G (p.Thr249Ser) n.802C>G c.605C>G (p.Thr202Ser) c.563C>G (p.Thr188Ser) c.350C>G (p.Thr117Ser) n.646C>G n.834C>G c.539C>G (p.Thr180Ser) c.458C>G (p.Thr153Ser) n.815C>G c.-215C>G (n.-215C>G)	dbSNP
4	g.1001835C>T	CA2802073	IDUA	c.746C>T (p.Thr249Ile) n.802C>T c.605C>T (p.Thr202Ile) c.563C>T (p.Thr188Ile) c.350C>T (p.Thr117Ile) n.646C>T n.834C>T c.539C>T (p.Thr180Ile) c.458C>T (p.Thr153Ile) n.815C>T c.-215C>T (n.-215C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001836T>A	CA438057336	IDUA	c.747T>A (p.Thr249=) n.803T>A c.606T>A (p.Thr202=) c.564T>A (p.Thr188=) c.351T>A (p.Thr117=) n.647T>A n.835T>A c.540T>A (p.Thr180=) c.459T>A (p.Thr153=) n.816T>A c.-214T>A (n.-214T>A)
4	g.1001836T>C	CA438057337	IDUA	c.747T>C (p.Thr249=) n.803T>C c.606T>C (p.Thr202=) c.564T>C (p.Thr188=) c.351T>C (p.Thr117=) n.647T>C n.835T>C c.540T>C (p.Thr180=) c.459T>C (p.Thr153=) n.816T>C c.-214T>C (n.-214T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001836T>G	CA438057338	IDUA	c.747T>G (p.Thr249=) n.803T>G c.606T>G (p.Thr202=) c.564T>G (p.Thr188=) c.351T>G (p.Thr117=) n.647T>G n.835T>G c.540T>G (p.Thr180=) c.459T>G (p.Thr153=) n.816T>G c.-214T>G (n.-214T>G)	dbSNP gnomAD v2 gnomAD v4
4	g.1001836T=	CA1433068063	IDUA	c.747T= (p.Thr249=) n.803T= c.606T= (p.Thr202=) c.564T= (p.Thr188=) c.351T= (p.Thr117=) n.647T= n.835T= c.540T= (p.Thr180=) c.459T= (p.Thr153=) n.816T= c.-214T= (n.-214T=)
4	g.1001837G>A	CA355962190	IDUA	c.748G>A (p.Gly250Arg) n.804G>A c.607G>A (p.Gly203Arg) c.565G>A (p.Gly189Arg) c.352G>A (p.Gly118Arg) n.648G>A n.836G>A c.541G>A (p.Gly181Arg) c.460G>A (p.Gly154Arg) n.817G>A c.-213G>A (n.-213G>A)	gnomAD v4
4	g.1001837G>C	CA355962191	IDUA	c.748G>C (p.Gly250Arg) n.804G>C c.607G>C (p.Gly203Arg) c.565G>C (p.Gly189Arg) c.352G>C (p.Gly118Arg) n.648G>C n.836G>C c.541G>C (p.Gly181Arg) c.460G>C (p.Gly154Arg) n.817G>C c.-213G>C (n.-213G>C)
4	g.1001837G>T	CA355962192	IDUA	c.748G>T (p.Gly250Trp) n.804G>T c.607G>T (p.Gly203Trp) c.565G>T (p.Gly189Trp) c.352G>T (p.Gly118Trp) n.648G>T n.836G>T c.541G>T (p.Gly181Trp) c.460G>T (p.Gly154Trp) n.817G>T c.-213G>T (n.-213G>T)
4	g.1001840dup	CA2580070656	IDUA	c.751dup (p.Glu251GlyfsTer?) n.807dup c.610dup (p.Glu204GlyfsTer?) c.568dup (p.Glu190GlyfsTer?) c.355dup (p.Glu119GlyfsTer?) n.651dup n.839dup c.544dup (p.Glu182GlyfsTer?) c.463dup (p.Glu155GlyfsTer?) n.820dup c.-210dup (n.-210dup)	ClinVar
4	g.1001840del	CA2580070655	IDUA	c.751del (p.Glu251ArgfsTer?) n.807del c.610del (p.Glu204ArgfsTer?) c.568del (p.Glu190ArgfsTer?) c.355del (p.Glu119ArgfsTer?) n.651del n.839del c.544del (p.Glu182ArgfsTer?) c.463del (p.Glu155ArgfsTer?) n.820del c.-210del (n.-210del)	ClinVar gnomAD v4
4	g.1001838G>A	CA355962193	IDUA	c.749G>A (p.Gly250Glu) n.805G>A c.608G>A (p.Gly203Glu) c.566G>A (p.Gly189Glu) c.353G>A (p.Gly118Glu) n.649G>A n.837G>A c.542G>A (p.Gly181Glu) c.461G>A (p.Gly154Glu) n.818G>A c.-212G>A (n.-212G>A)
4	g.1001838G>C	CA355962194	IDUA	c.749G>C (p.Gly250Ala) n.805G>C c.608G>C (p.Gly203Ala) c.566G>C (p.Gly189Ala) c.353G>C (p.Gly118Ala) n.649G>C n.837G>C c.542G>C (p.Gly181Ala) c.461G>C (p.Gly154Ala) n.818G>C c.-212G>C (n.-212G>C)
4	g.1001838G>T	CA355962195	IDUA	c.749G>T (p.Gly250Val) n.805G>T c.608G>T (p.Gly203Val) c.566G>T (p.Gly189Val) c.353G>T (p.Gly118Val) n.649G>T n.837G>T c.542G>T (p.Gly181Val) c.461G>T (p.Gly154Val) n.818G>T c.-212G>T (n.-212G>T)	ClinVar
4	g.1001839G>A	CA438057339	IDUA	c.750G>A (p.Gly250=) n.806G>A c.609G>A (p.Gly203=) c.567G>A (p.Gly189=) c.354G>A (p.Gly118=) n.650G>A n.838G>A c.543G>A (p.Gly181=) c.462G>A (p.Gly154=) n.819G>A c.-211G>A (n.-211G>A)	gnomAD v4
4	g.1001839G>C	CA438057340	IDUA	c.750G>C (p.Gly250=) n.806G>C c.609G>C (p.Gly203=) c.567G>C (p.Gly189=) c.354G>C (p.Gly118=) n.650G>C n.838G>C c.543G>C (p.Gly181=) c.462G>C (p.Gly154=) n.819G>C c.-211G>C (n.-211G>C)	ClinVar dbSNP
4	g.1001839G=	CA1433068067	IDUA	c.750G= (p.Gly250=) n.806G= c.609G= (p.Gly203=) c.567G= (p.Gly189=) c.354G= (p.Gly118=) n.650G= n.838G= c.543G= (p.Gly181=) c.462G= (p.Gly154=) n.819G= c.-211G= (n.-211G=)
4	g.1001839G>T	CA438057341	IDUA	c.750G>T (p.Gly250=) n.806G>T c.609G>T (p.Gly203=) c.567G>T (p.Gly189=) c.354G>T (p.Gly118=) n.650G>T n.838G>T c.543G>T (p.Gly181=) c.462G>T (p.Gly154=) n.819G>T c.-211G>T (n.-211G>T)	gnomAD v4
4	g.1001840G>A	CA355962198	IDUA	c.751G>A (p.Glu251Lys) n.807G>A c.610G>A (p.Glu204Lys) c.568G>A (p.Glu190Lys) c.355G>A (p.Glu119Lys) n.651G>A n.839G>A c.544G>A (p.Glu182Lys) c.463G>A (p.Glu155Lys) n.820G>A c.-210G>A (n.-210G>A)
4	g.1001840G>C	CA355962197	IDUA	c.751G>C (p.Glu251Gln) n.807G>C c.610G>C (p.Glu204Gln) c.568G>C (p.Glu190Gln) c.355G>C (p.Glu119Gln) n.651G>C n.839G>C c.544G>C (p.Glu182Gln) c.463G>C (p.Glu155Gln) n.820G>C c.-210G>C (n.-210G>C)
4	g.1001840G>T	CA355962196	IDUA	c.751G>T (p.Glu251Ter) n.807G>T c.610G>T (p.Glu204Ter) c.568G>T (p.Glu190Ter) c.355G>T (p.Glu119Ter) n.651G>T n.839G>T c.544G>T (p.Glu182Ter) c.463G>T (p.Glu155Ter) n.820G>T c.-210G>T (n.-210G>T)	gnomAD v4
4	g.1001841A>C	CA355962201	IDUA	c.752A>C (p.Glu251Ala) n.808A>C c.611A>C (p.Glu204Ala) c.569A>C (p.Glu190Ala) c.356A>C (p.Glu119Ala) n.652A>C n.840A>C c.545A>C (p.Glu182Ala) c.464A>C (p.Glu155Ala) n.821A>C c.-209A>C (n.-209A>C)
4	g.1001841A>G	CA355962199	IDUA	c.752A>G (p.Glu251Gly) n.808A>G c.611A>G (p.Glu204Gly) c.569A>G (p.Glu190Gly) c.356A>G (p.Glu119Gly) n.652A>G n.840A>G c.545A>G (p.Glu182Gly) c.464A>G (p.Glu155Gly) n.821A>G c.-209A>G (n.-209A>G)
4	g.1001841A>T	CA355962200	IDUA	c.752A>T (p.Glu251Val) n.808A>T c.611A>T (p.Glu204Val) c.569A>T (p.Glu190Val) c.356A>T (p.Glu119Val) n.652A>T n.840A>T c.545A>T (p.Glu182Val) c.464A>T (p.Glu155Val) n.821A>T c.-209A>T (n.-209A>T)
4	g.1001842G>A	CA438057342	IDUA	c.753G>A (p.Glu251=) n.809G>A c.612G>A (p.Glu204=) c.570G>A (p.Glu190=) c.357G>A (p.Glu119=) n.653G>A n.841G>A c.546G>A (p.Glu182=) c.465G>A (p.Glu155=) n.822G>A c.-208G>A (n.-208G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.1001842G>C	CA355962202	IDUA	c.753G>C (p.Glu251Asp) n.809G>C c.612G>C (p.Glu204Asp) c.570G>C (p.Glu190Asp) c.357G>C (p.Glu119Asp) n.653G>C n.841G>C c.546G>C (p.Glu182Asp) c.465G>C (p.Glu155Asp) n.822G>C c.-208G>C (n.-208G>C)
4	g.1001842G=	CA1433068069	IDUA	c.753G= (p.Glu251=) n.809G= c.612G= (p.Glu204=) c.570G= (p.Glu190=) c.357G= (p.Glu119=) n.653G= n.841G= c.546G= (p.Glu182=) c.465G= (p.Glu155=) n.822G= c.-208G= (n.-208G=)
4	g.1001842G>T	CA355962203	IDUA	c.753G>T (p.Glu251Asp) n.809G>T c.612G>T (p.Glu204Asp) c.570G>T (p.Glu190Asp) c.357G>T (p.Glu119Asp) n.653G>T n.841G>T c.546G>T (p.Glu182Asp) c.465G>T (p.Glu155Asp) n.822G>T c.-208G>T (n.-208G>T)

Number of alleles fetched