Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
4	g.1001467G>A	CA355961634	IDUA	c.494-1G>A (n.494-1G>A) n.550-1G>A c.353-1G>A (n.353-1G>A) c.454-1G>A c.287-1G>A (n.287-1G>A) c.311-1G>A (n.311-1G>A) c.98-1G>A (n.98-1G>A) n.394-1G>A n.582-1G>A c.206-1G>A (n.206-1G>A) n.563-1G>A c.-496G>A (n.-496G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.1001467G>C	CA275298	IDUA	c.494-1G>C (n.494-1G>C) n.550-1G>C c.353-1G>C (n.353-1G>C) c.454-1G>C c.287-1G>C (n.287-1G>C) c.311-1G>C (n.311-1G>C) c.98-1G>C (n.98-1G>C) n.394-1G>C n.582-1G>C c.206-1G>C (n.206-1G>C) n.563-1G>C c.-496G>C (n.-496G>C)	ClinVar dbSNP
4	g.1001467G=	CA1433067266	IDUA	c.494-1G= (n.494-1G=) n.550-1G= c.353-1G= (n.353-1G=) c.454-1G= c.287-1G= (n.287-1G=) c.311-1G= (n.311-1G=) c.98-1G= (n.98-1G=) n.394-1G= n.582-1G= c.206-1G= (n.206-1G=) n.563-1G= c.-496G= (n.-496G=)
4	g.1001467G>T	CA355961635	IDUA	c.494-1G>T (n.494-1G>T) n.550-1G>T c.353-1G>T (n.353-1G>T) c.454-1G>T c.287-1G>T (n.287-1G>T) c.311-1G>T (n.311-1G>T) c.98-1G>T (n.98-1G>T) n.394-1G>T n.582-1G>T c.206-1G>T (n.206-1G>T) n.563-1G>T c.-496G>T (n.-496G>T)
4	g.1001468G>A	CA2801966	IDUA	c.494G>A (p.Gly165Asp) n.550G>A c.353G>A (p.Gly118Asp) c.454G>A c.287G>A (p.Gly96Asp) c.311G>A (p.Gly104Asp) c.98G>A (p.Gly33Asp) n.394G>A n.582G>A c.206G>A (p.Gly69Asp) n.563G>A c.-495G>A (n.-495G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001468G>C	CA355961637	IDUA	c.494G>C (p.Gly165Ala) n.550G>C c.353G>C (p.Gly118Ala) c.454G>C c.287G>C (p.Gly96Ala) c.311G>C (p.Gly104Ala) c.98G>C (p.Gly33Ala) n.394G>C n.582G>C c.206G>C (p.Gly69Ala) n.563G>C c.-495G>C (n.-495G>C)
4	g.1001468G=	CA1433067267	IDUA	c.494G= (p.Gly165=) n.550G= c.353G= (p.Gly118=) c.454G= c.287G= (p.Gly96=) c.311G= (p.Gly104=) c.98G= (p.Gly33=) n.394G= n.582G= c.206G= (p.Gly69=) n.563G= c.-495G= (n.-495G=)
4	g.1001468G>T	CA355961636	IDUA	c.494G>T (p.Gly165Val) n.550G>T c.353G>T (p.Gly118Val) c.454G>T c.287G>T (p.Gly96Val) c.311G>T (p.Gly104Val) c.98G>T (p.Gly33Val) n.394G>T n.582G>T c.206G>T (p.Gly69Val) n.563G>T c.-495G>T (n.-495G>T)
4	g.1001469T>A	CA437918894	IDUA	c.495T>A (p.Gly165=) n.551T>A c.354T>A (p.Gly118=) c.455T>A c.288T>A (p.Gly96=) c.312T>A (p.Gly104=) c.99T>A (p.Gly33=) n.395T>A n.583T>A c.207T>A (p.Gly69=) n.564T>A c.-494T>A (n.-494T>A)
4	g.1001469T>C	CA437918895	IDUA	c.495T>C (p.Gly165=) n.551T>C c.354T>C (p.Gly118=) c.455T>C c.288T>C (p.Gly96=) c.312T>C (p.Gly104=) c.99T>C (p.Gly33=) n.395T>C n.583T>C c.207T>C (p.Gly69=) n.564T>C c.-494T>C (n.-494T>C)	gnomAD v4
4	g.1001469T>G	CA437918896	IDUA	c.495T>G (p.Gly165=) n.551T>G c.354T>G (p.Gly118=) c.455T>G c.288T>G (p.Gly96=) c.312T>G (p.Gly104=) c.99T>G (p.Gly33=) n.395T>G n.583T>G c.207T>G (p.Gly69=) n.564T>G c.-494T>G (n.-494T>G)
4	g.1001470A>C	CA437918897	IDUA	c.496A>C (p.Arg166=) n.552A>C c.355A>C (p.Arg119=) c.456A>C c.289A>C (p.Arg97=) c.313A>C (p.Arg105=) c.100A>C (p.Arg34=) n.396A>C n.584A>C c.208A>C (p.Arg70=) n.565A>C c.-493A>C (n.-493A>C)
4	g.1001470A>G	CA355961638	IDUA	c.496A>G (p.Arg166Gly) n.552A>G c.355A>G (p.Arg119Gly) c.456A>G c.289A>G (p.Arg97Gly) c.313A>G (p.Arg105Gly) c.100A>G (p.Arg34Gly) n.396A>G n.584A>G c.208A>G (p.Arg70Gly) n.565A>G c.-493A>G (n.-493A>G)
4	g.1001470A>T	CA355961639	IDUA	c.496A>T (p.Arg166Trp) n.552A>T c.355A>T (p.Arg119Trp) c.456A>T c.289A>T (p.Arg97Trp) c.313A>T (p.Arg105Trp) c.100A>T (p.Arg34Trp) n.396A>T n.584A>T c.208A>T (p.Arg70Trp) n.565A>T c.-493A>T (n.-493A>T)
4	g.1001471G>A	CA355961640	IDUA	c.497G>A (p.Arg166Lys) n.553G>A c.356G>A (p.Arg119Lys) c.457G>A c.290G>A (p.Arg97Lys) c.314G>A (p.Arg105Lys) c.101G>A (p.Arg34Lys) n.397G>A n.585G>A c.209G>A (p.Arg70Lys) n.566G>A c.-492G>A (n.-492G>A)
4	g.1001471G>C	CA2801967	IDUA	c.497G>C (p.Arg166Thr) n.553G>C c.356G>C (p.Arg119Thr) c.457G>C c.290G>C (p.Arg97Thr) c.314G>C (p.Arg105Thr) c.101G>C (p.Arg34Thr) n.397G>C n.585G>C c.209G>C (p.Arg70Thr) n.566G>C c.-492G>C (n.-492G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001471G=	CA1433067268	IDUA	c.497G= (p.Arg166=) n.553G= c.356G= (p.Arg119=) c.457G= c.290G= (p.Arg97=) c.314G= (p.Arg105=) c.101G= (p.Arg34=) n.397G= n.585G= c.209G= (p.Arg70=) n.566G= c.-492G= (n.-492G=)
4	g.1001471G>T	CA355961641	IDUA	c.497G>T (p.Arg166Met) n.553G>T c.356G>T (p.Arg119Met) c.457G>T c.290G>T (p.Arg97Met) c.314G>T (p.Arg105Met) c.101G>T (p.Arg34Met) n.397G>T n.585G>T c.209G>T (p.Arg70Met) n.566G>T c.-492G>T (n.-492G>T)	COSMIC COSMIC
4	g.1001472G>A	CA437918898	IDUA	c.498G>A (p.Arg166=) n.554G>A c.357G>A (p.Arg119=) c.458G>A c.291G>A (p.Arg97=) c.315G>A (p.Arg105=) c.102G>A (p.Arg34=) n.398G>A n.586G>A c.210G>A (p.Arg70=) n.567G>A c.-491G>A (n.-491G>A)
4	g.1001472G>C	CA355961642	IDUA	c.498G>C (p.Arg166Ser) n.554G>C c.357G>C (p.Arg119Ser) c.458G>C c.291G>C (p.Arg97Ser) c.315G>C (p.Arg105Ser) c.102G>C (p.Arg34Ser) n.398G>C n.586G>C c.210G>C (p.Arg70Ser) n.567G>C c.-491G>C (n.-491G>C)	gnomAD v4
4	g.1001472G>T	CA355961643	IDUA	c.498G>T (p.Arg166Ser) n.554G>T c.357G>T (p.Arg119Ser) c.458G>T c.291G>T (p.Arg97Ser) c.315G>T (p.Arg105Ser) c.102G>T (p.Arg34Ser) n.398G>T n.586G>T c.210G>T (p.Arg70Ser) n.567G>T c.-491G>T (n.-491G>T)
4	g.1001473T>A	CA355961644	IDUA	c.499T>A (p.Tyr167Asn) n.555T>A c.358T>A (p.Tyr120Asn) c.459T>A c.292T>A (p.Tyr98Asn) c.316T>A (p.Tyr106Asn) c.103T>A (p.Tyr35Asn) n.399T>A n.587T>A c.211T>A (p.Tyr71Asn) n.568T>A c.-490T>A (n.-490T>A)
4	g.1001473T>C	CA355961645	IDUA	c.499T>C (p.Tyr167His) n.555T>C c.358T>C (p.Tyr120His) c.459T>C c.292T>C (p.Tyr98His) c.316T>C (p.Tyr106His) c.103T>C (p.Tyr35His) n.399T>C n.587T>C c.211T>C (p.Tyr71His) n.568T>C c.-490T>C (n.-490T>C)	dbSNP COSMIC COSMIC
4	g.1001473T>G	CA355961646	IDUA	c.499T>G (p.Tyr167Asp) n.555T>G c.358T>G (p.Tyr120Asp) c.459T>G c.292T>G (p.Tyr98Asp) c.316T>G (p.Tyr106Asp) c.103T>G (p.Tyr35Asp) n.399T>G n.587T>G c.211T>G (p.Tyr71Asp) n.568T>G c.-490T>G (n.-490T>G)
4	g.1001473T=	CA1433067269	IDUA	c.499T= (p.Tyr167=) n.555T= c.358T= (p.Tyr120=) c.459T= c.292T= (p.Tyr98=) c.316T= (p.Tyr106=) c.103T= (p.Tyr35=) n.399T= n.587T= c.211T= (p.Tyr71=) n.568T= c.-490T= (n.-490T=)
4	g.1001474A=	CA1433067270	IDUA	c.500A= (p.Tyr167=) n.556A= c.359A= (p.Tyr120=) c.460A= c.293A= (p.Tyr98=) c.317A= (p.Tyr106=) c.104A= (p.Tyr35=) n.400A= n.588A= c.212A= (p.Tyr71=) n.569A= c.-489A= (n.-489A=)
4	g.1001474A>C	CA355961647	IDUA	c.500A>C (p.Tyr167Ser) n.556A>C c.359A>C (p.Tyr120Ser) c.460A>C c.293A>C (p.Tyr98Ser) c.317A>C (p.Tyr106Ser) c.104A>C (p.Tyr35Ser) n.400A>C n.588A>C c.212A>C (p.Tyr71Ser) n.569A>C c.-489A>C (n.-489A>C)
4	g.1001474A>G	CA355961648	IDUA	c.500A>G (p.Tyr167Cys) n.556A>G c.359A>G (p.Tyr120Cys) c.460A>G c.293A>G (p.Tyr98Cys) c.317A>G (p.Tyr106Cys) c.104A>G (p.Tyr35Cys) n.400A>G n.588A>G c.212A>G (p.Tyr71Cys) n.569A>G c.-489A>G (n.-489A>G)	dbSNP gnomAD v4
4	g.1001474A>T	CA355961649	IDUA	c.500A>T (p.Tyr167Phe) n.556A>T c.359A>T (p.Tyr120Phe) c.460A>T c.293A>T (p.Tyr98Phe) c.317A>T (p.Tyr106Phe) c.104A>T (p.Tyr35Phe) n.400A>T n.588A>T c.212A>T (p.Tyr71Phe) n.569A>T c.-489A>T (n.-489A>T)
4	g.1001475C>A	CA355961650	IDUA	c.501C>A (p.Tyr167Ter) n.557C>A c.360C>A (p.Tyr120Ter) c.461C>A c.294C>A (p.Tyr98Ter) c.318C>A (p.Tyr106Ter) c.105C>A (p.Tyr35Ter) n.401C>A n.589C>A c.213C>A (p.Tyr71Ter) n.570C>A c.-488C>A (n.-488C>A)	gnomAD v4
4	g.1001475C=	CA1433067271	IDUA	c.501C= (p.Tyr167=) n.557C= c.360C= (p.Tyr120=) c.461C= c.294C= (p.Tyr98=) c.318C= (p.Tyr106=) c.105C= (p.Tyr35=) n.401C= n.589C= c.213C= (p.Tyr71=) n.570C= c.-488C= (n.-488C=)
4	g.1001475C>G	CA220511	IDUA	c.501C>G (p.Tyr167Ter) n.557C>G c.360C>G (p.Tyr120Ter) c.461C>G c.294C>G (p.Tyr98Ter) c.318C>G (p.Tyr106Ter) c.105C>G (p.Tyr35Ter) n.401C>G n.589C>G c.213C>G (p.Tyr71Ter) n.570C>G c.-488C>G (n.-488C>G)	ClinVar dbSNP gnomAD v4
4	g.1001475C>T	CA2801968	IDUA	c.501C>T (p.Tyr167=) n.557C>T c.360C>T (p.Tyr120=) c.461C>T c.294C>T (p.Tyr98=) c.318C>T (p.Tyr106=) c.105C>T (p.Tyr35=) n.401C>T n.589C>T c.213C>T (p.Tyr71=) n.570C>T c.-488C>T (n.-488C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001476G>A	CA355961651	IDUA	c.502G>A (p.Gly168Arg) n.558G>A c.361G>A (p.Gly121Arg) c.462G>A c.295G>A (p.Gly99Arg) c.319G>A (p.Gly107Arg) c.106G>A (p.Gly36Arg) n.402G>A n.590G>A c.214G>A (p.Gly72Arg) n.571G>A c.-487G>A (n.-487G>A)	dbSNP gnomAD v2 gnomAD v4
4	g.1001476G>C	CA2801969	IDUA	c.502G>C (p.Gly168Arg) n.558G>C c.361G>C (p.Gly121Arg) c.462G>C c.295G>C (p.Gly99Arg) c.319G>C (p.Gly107Arg) c.106G>C (p.Gly36Arg) n.402G>C n.590G>C c.214G>C (p.Gly72Arg) n.571G>C c.-487G>C (n.-487G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001476G=	CA1433067273	IDUA	c.502G= (p.Gly168=) n.558G= c.361G= (p.Gly121=) c.462G= c.295G= (p.Gly99=) c.319G= (p.Gly107=) c.106G= (p.Gly36=) n.402G= n.590G= c.214G= (p.Gly72=) n.571G= c.-487G= (n.-487G=)
4	g.1001476G>T	CA355961652	IDUA	c.502G>T (p.Gly168Ter) n.558G>T c.361G>T (p.Gly121Ter) c.462G>T c.295G>T (p.Gly99Ter) c.319G>T (p.Gly107Ter) c.106G>T (p.Gly36Ter) n.402G>T n.590G>T c.214G>T (p.Gly72Ter) n.571G>T c.-487G>T (n.-487G>T)
4	g.1001476_1001483delinsGGACTGGC	CA1433067272	IDUA	c.502_509delinsGGACTGGC (p.Gly168=) n.558_565delinsGGACTGGC c.361_368delinsGGACTGGC (p.Gly121=) c.462_469delinsGGACTGGC c.295_302delinsGGACTGGC (p.Gly99=) c.319_326delinsGGACTGGC (p.Gly107=) c.106_113delinsGGACTGGC (p.Gly36=) n.402_409delinsGGACTGGC n.590_597delinsGGACTGGC c.214_221delinsGGACTGGC (p.Gly72=) n.571_578delinsGGACTGGC c.-487_-480delinsGGACTGGC (n.-487_-480delinsGGACTGGC)
4	g.1001477G>A	CA355961653	IDUA	c.503G>A (p.Gly168Glu) n.559G>A c.362G>A (p.Gly121Glu) c.463G>A c.296G>A (p.Gly99Glu) c.320G>A (p.Gly107Glu) c.107G>A (p.Gly36Glu) n.403G>A n.591G>A c.215G>A (p.Gly72Glu) n.572G>A c.-486G>A (n.-486G>A)
4	g.1001477G>C	CA355961654	IDUA	c.503G>C (p.Gly168Ala) n.559G>C c.362G>C (p.Gly121Ala) c.463G>C c.296G>C (p.Gly99Ala) c.320G>C (p.Gly107Ala) c.107G>C (p.Gly36Ala) n.403G>C n.591G>C c.215G>C (p.Gly72Ala) n.572G>C c.-486G>C (n.-486G>C)
4	g.1001477G>T	CA355961655	IDUA	c.503G>T (p.Gly168Val) n.559G>T c.362G>T (p.Gly121Val) c.463G>T c.296G>T (p.Gly99Val) c.320G>T (p.Gly107Val) c.107G>T (p.Gly36Val) n.403G>T n.591G>T c.215G>T (p.Gly72Val) n.572G>T c.-486G>T (n.-486G>T)
4	g.1001478_1001484del	CA1433067274	IDUA	c.504_510del (p.Leu169MetfsTer23) n.560_566del c.363_369del (p.Leu122MetfsTer23) c.464_470del c.297_303del (p.Leu100MetfsTer23) c.321_327del (p.Leu108MetfsTer23) c.108_114del (p.Leu37MetfsTer23) n.404_410del n.592_598del c.216_222del (p.Leu73MetfsTer23) n.573_579del c.-485_-479del (n.-485_-479del)	ClinVar dbSNP
4	g.1001478A=	CA1433067275	IDUA	c.504A= (p.Gly168=) n.560A= c.363A= (p.Gly121=) c.464A= c.297A= (p.Gly99=) c.321A= (p.Gly107=) c.108A= (p.Gly36=) n.404A= n.592A= c.216A= (p.Gly72=) n.573A= c.-485A= (n.-485A=)
4	g.1001478A>C	CA437918899	IDUA	c.504A>C (p.Gly168=) n.560A>C c.363A>C (p.Gly121=) c.464A>C c.297A>C (p.Gly99=) c.321A>C (p.Gly107=) c.108A>C (p.Gly36=) n.404A>C n.592A>C c.216A>C (p.Gly72=) n.573A>C c.-485A>C (n.-485A>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001478A>G	CA437918900	IDUA	c.504A>G (p.Gly168=) n.560A>G c.363A>G (p.Gly121=) c.464A>G c.297A>G (p.Gly99=) c.321A>G (p.Gly107=) c.108A>G (p.Gly36=) n.404A>G n.592A>G c.216A>G (p.Gly72=) n.573A>G c.-485A>G (n.-485A>G)
4	g.1001478A>T	CA437918901	IDUA	c.504A>T (p.Gly168=) n.560A>T c.363A>T (p.Gly121=) c.464A>T c.297A>T (p.Gly99=) c.321A>T (p.Gly107=) c.108A>T (p.Gly36=) n.404A>T n.592A>T c.216A>T (p.Gly72=) n.573A>T c.-485A>T (n.-485A>T)
4	g.1001479C>A	CA355961656	IDUA	c.505C>A (p.Leu169Met) n.561C>A c.364C>A (p.Leu122Met) c.465C>A c.298C>A (p.Leu100Met) c.322C>A (p.Leu108Met) c.109C>A (p.Leu37Met) n.405C>A n.593C>A c.217C>A (p.Leu73Met) n.574C>A c.-484C>A (n.-484C>A)
4	g.1001479C=	CA1433067276	IDUA	c.505C= (p.Leu169=) n.561C= c.364C= (p.Leu122=) c.465C= c.298C= (p.Leu100=) c.322C= (p.Leu108=) c.109C= (p.Leu37=) n.405C= n.593C= c.217C= (p.Leu73=) n.574C= c.-484C= (n.-484C=)
4	g.1001479C>G	CA355961657	IDUA	c.505C>G (p.Leu169Val) n.561C>G c.364C>G (p.Leu122Val) c.465C>G c.298C>G (p.Leu100Val) c.322C>G (p.Leu108Val) c.109C>G (p.Leu37Val) n.405C>G n.593C>G c.217C>G (p.Leu73Val) n.574C>G c.-484C>G (n.-484C>G)
4	g.1001479C>T	CA2801970	IDUA	c.505C>T (p.Leu169=) n.561C>T c.364C>T (p.Leu122=) c.465C>T c.298C>T (p.Leu100=) c.322C>T (p.Leu108=) c.109C>T (p.Leu37=) n.405C>T n.593C>T c.217C>T (p.Leu73=) n.574C>T c.-484C>T (n.-484C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001480T>A	CA91167050	IDUA	c.506T>A (p.Leu169Gln) n.562T>A c.365T>A (p.Leu122Gln) c.466T>A c.299T>A (p.Leu100Gln) c.323T>A (p.Leu108Gln) c.110T>A (p.Leu37Gln) n.406T>A n.594T>A c.218T>A (p.Leu73Gln) n.575T>A c.-483T>A (n.-483T>A)	dbSNP gnomAD v3 gnomAD v4
4	g.1001480T>C	CA355961658	IDUA	c.506T>C (p.Leu169Pro) n.562T>C c.365T>C (p.Leu122Pro) c.466T>C c.299T>C (p.Leu100Pro) c.323T>C (p.Leu108Pro) c.110T>C (p.Leu37Pro) n.406T>C n.594T>C c.218T>C (p.Leu73Pro) n.575T>C c.-483T>C (n.-483T>C)
4	g.1001480T>G	CA355961659	IDUA	c.506T>G (p.Leu169Arg) n.562T>G c.365T>G (p.Leu122Arg) c.466T>G c.299T>G (p.Leu100Arg) c.323T>G (p.Leu108Arg) c.110T>G (p.Leu37Arg) n.406T>G n.594T>G c.218T>G (p.Leu73Arg) n.575T>G c.-483T>G (n.-483T>G)
4	g.1001480T=	CA1433067277	IDUA	c.506T= (p.Leu169=) n.562T= c.365T= (p.Leu122=) c.466T= c.299T= (p.Leu100=) c.323T= (p.Leu108=) c.110T= (p.Leu37=) n.406T= n.594T= c.218T= (p.Leu73=) n.575T= c.-483T= (n.-483T=)
4	g.1001480_1001487delinsGGAA	CA645372296	IDUA	c.506_513delinsGGAA (p.Leu169ArgfsTer24) n.562_569delinsGGAA c.365_372delinsGGAA (p.Leu122ArgfsTer24) c.466_473delinsGGAA c.299_306delinsGGAA (p.Leu100ArgfsTer24) c.323_330delinsGGAA (p.Leu108ArgfsTer24) c.110_117delinsGGAA (p.Leu37ArgfsTer24) n.406_413delinsGGAA n.594_601delinsGGAA c.218_225delinsGGAA (p.Leu73ArgfsTer24) n.575_582delinsGGAA c.-483_-476delinsGGAA (n.-483_-476delinsGGAA)
4	g.1001481G>A	CA437918903	IDUA	c.507G>A (p.Leu169=) n.563G>A c.366G>A (p.Leu122=) c.467G>A c.300G>A (p.Leu100=) c.324G>A (p.Leu108=) c.111G>A (p.Leu37=) n.407G>A n.595G>A c.219G>A (p.Leu73=) n.576G>A c.-482G>A (n.-482G>A)	ClinVar
4	g.1001481G>C	CA437918904	IDUA	c.507G>C (p.Leu169=) n.563G>C c.366G>C (p.Leu122=) c.467G>C c.300G>C (p.Leu100=) c.324G>C (p.Leu108=) c.111G>C (p.Leu37=) n.407G>C n.595G>C c.219G>C (p.Leu73=) n.576G>C c.-482G>C (n.-482G>C)
4	g.1001481G>T	CA437918905	IDUA	c.507G>T (p.Leu169=) n.563G>T c.366G>T (p.Leu122=) c.467G>T c.300G>T (p.Leu100=) c.324G>T (p.Leu108=) c.111G>T (p.Leu37=) n.407G>T n.595G>T c.219G>T (p.Leu73=) n.576G>T c.-482G>T (n.-482G>T)
4	g.1001482G>A	CA355961660	IDUA	c.508G>A (p.Ala170Thr) n.564G>A c.367G>A (p.Ala123Thr) c.468G>A c.301G>A (p.Ala101Thr) c.325G>A (p.Ala109Thr) c.112G>A (p.Ala38Thr) n.408G>A n.596G>A c.220G>A (p.Ala74Thr) n.577G>A c.-481G>A (n.-481G>A)
4	g.1001482G>C	CA355961662	IDUA	c.508G>C (p.Ala170Pro) n.564G>C c.367G>C (p.Ala123Pro) c.468G>C c.301G>C (p.Ala101Pro) c.325G>C (p.Ala109Pro) c.112G>C (p.Ala38Pro) n.408G>C n.596G>C c.220G>C (p.Ala74Pro) n.577G>C c.-481G>C (n.-481G>C)	dbSNP
4	g.1001482G=	CA1433067278	IDUA	c.508G= (p.Ala170=) n.564G= c.367G= (p.Ala123=) c.468G= c.301G= (p.Ala101=) c.325G= (p.Ala109=) c.112G= (p.Ala38=) n.408G= n.596G= c.220G= (p.Ala74=) n.577G= c.-481G= (n.-481G=)
4	g.1001482G>T	CA355961661	IDUA	c.508G>T (p.Ala170Ser) n.564G>T c.367G>T (p.Ala123Ser) c.468G>T c.301G>T (p.Ala101Ser) c.325G>T (p.Ala109Ser) c.112G>T (p.Ala38Ser) n.408G>T n.596G>T c.220G>T (p.Ala74Ser) n.577G>T c.-481G>T (n.-481G>T)
4	g.1001483C>A	CA355961663	IDUA	c.509C>A (p.Ala170Glu) n.565C>A c.368C>A (p.Ala123Glu) c.469C>A c.302C>A (p.Ala101Glu) c.326C>A (p.Ala109Glu) c.113C>A (p.Ala38Glu) n.409C>A n.597C>A c.221C>A (p.Ala74Glu) n.578C>A c.-480C>A (n.-480C>A)
4	g.1001483C=	CA1433067279	IDUA	c.509C= (p.Ala170=) n.565C= c.368C= (p.Ala123=) c.469C= c.302C= (p.Ala101=) c.326C= (p.Ala109=) c.113C= (p.Ala38=) n.409C= n.597C= c.221C= (p.Ala74=) n.578C= c.-480C= (n.-480C=)
4	g.1001483C>G	CA355961664	IDUA	c.509C>G (p.Ala170Gly) n.565C>G c.368C>G (p.Ala123Gly) c.469C>G c.302C>G (p.Ala101Gly) c.326C>G (p.Ala109Gly) c.113C>G (p.Ala38Gly) n.409C>G n.597C>G c.221C>G (p.Ala74Gly) n.578C>G c.-480C>G (n.-480C>G)	dbSNP gnomAD v4
4	g.1001483C>T	CA2801971	IDUA	c.509C>T (p.Ala170Val) n.565C>T c.368C>T (p.Ala123Val) c.469C>T c.302C>T (p.Ala101Val) c.326C>T (p.Ala109Val) c.113C>T (p.Ala38Val) n.409C>T n.597C>T c.221C>T (p.Ala74Val) n.578C>T c.-480C>T (n.-480C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4	g.1001484G>A	CA2801972	IDUA	c.510G>A (p.Ala170=) n.566G>A c.369G>A (p.Ala123=) c.470G>A c.303G>A (p.Ala101=) c.327G>A (p.Ala109=) c.114G>A (p.Ala38=) n.410G>A n.598G>A c.222G>A (p.Ala74=) n.579G>A c.-479G>A (n.-479G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4	g.1001484G>C	CA2801973	IDUA	c.510G>C (p.Ala170=) n.566G>C c.369G>C (p.Ala123=) c.470G>C c.303G>C (p.Ala101=) c.327G>C (p.Ala109=) c.114G>C (p.Ala38=) n.410G>C n.598G>C c.222G>C (p.Ala74=) n.579G>C c.-479G>C (n.-479G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001484G=	CA1433067280	IDUA	c.510G= (p.Ala170=) n.566G= c.369G= (p.Ala123=) c.470G= c.303G= (p.Ala101=) c.327G= (p.Ala109=) c.114G= (p.Ala38=) n.410G= n.598G= c.222G= (p.Ala74=) n.579G= c.-479G= (n.-479G=)
4	g.1001484G>T	CA437918906	IDUA	c.510G>T (p.Ala170=) n.566G>T c.369G>T (p.Ala123=) c.470G>T c.303G>T (p.Ala101=) c.327G>T (p.Ala109=) c.114G>T (p.Ala38=) n.410G>T n.598G>T c.222G>T (p.Ala74=) n.579G>T c.-479G>T (n.-479G>T)	ClinVar dbSNP gnomAD v4
4	g.1001485C>A	CA355961666	IDUA	c.511C>A (p.His171Asn) n.567C>A c.370C>A (p.His124Asn) c.471C>A c.304C>A (p.His102Asn) c.328C>A (p.His110Asn) c.115C>A (p.His39Asn) n.411C>A n.599C>A c.223C>A (p.His75Asn) n.580C>A c.-478C>A (n.-478C>A)
4	g.1001485C=	CA1433067282	IDUA	c.511C= (p.His171=) n.567C= c.370C= (p.His124=) c.471C= c.304C= (p.His102=) c.328C= (p.His110=) c.115C= (p.His39=) n.411C= n.599C= c.223C= (p.His75=) n.580C= c.-478C= (n.-478C=)
4	g.1001485C>G	CA2801974	IDUA	c.511C>G (p.His171Asp) n.567C>G c.370C>G (p.His124Asp) c.471C>G c.304C>G (p.His102Asp) c.328C>G (p.His110Asp) c.115C>G (p.His39Asp) n.411C>G n.599C>G c.223C>G (p.His75Asp) n.580C>G c.-478C>G (n.-478C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001485C>T	CA355961665	IDUA	c.511C>T (p.His171Tyr) n.567C>T c.370C>T (p.His124Tyr) c.471C>T c.304C>T (p.His102Tyr) c.328C>T (p.His110Tyr) c.115C>T (p.His39Tyr) n.411C>T n.599C>T c.223C>T (p.His75Tyr) n.580C>T c.-478C>T (n.-478C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001485_1001487delinsCAT	CA1433067283	IDUA	c.511_513delinsCAT (p.His171=) n.567_569delinsCAT c.370_372delinsCAT (p.His124=) c.471_473delinsCAT c.304_306delinsCAT (p.His102=) c.328_330delinsCAT (p.His110=) c.115_117delinsCAT (p.His39=) n.411_413delinsCAT n.599_601delinsCAT c.223_225delinsCAT (p.His75=) n.580_582delinsCAT c.-478_-476delinsCAT (n.-478_-476delinsCAT)
4	g.1001486A=	CA1433067288	IDUA	c.512A= (p.His171=) n.568A= c.371A= (p.His124=) c.472A= c.305A= (p.His102=) c.329A= (p.His110=) c.116A= (p.His39=) n.412A= n.600A= c.224A= (p.His75=) n.581A= c.-477A= (n.-477A=)
4	g.1001486A>C	CA355961667	IDUA	c.512A>C (p.His171Pro) n.568A>C c.371A>C (p.His124Pro) c.472A>C c.305A>C (p.His102Pro) c.329A>C (p.His110Pro) c.116A>C (p.His39Pro) n.412A>C n.600A>C c.224A>C (p.His75Pro) n.581A>C c.-477A>C (n.-477A>C)
4	g.1001486A>G	CA355961668	IDUA	c.512A>G (p.His171Arg) n.568A>G c.371A>G (p.His124Arg) c.472A>G c.305A>G (p.His102Arg) c.329A>G (p.His110Arg) c.116A>G (p.His39Arg) n.412A>G n.600A>G c.224A>G (p.His75Arg) n.581A>G c.-477A>G (n.-477A>G)	ClinVar dbSNP gnomAD v4
4	g.1001486A>T	CA355961669	IDUA	c.512A>T (p.His171Leu) n.568A>T c.371A>T (p.His124Leu) c.472A>T c.305A>T (p.His102Leu) c.329A>T (p.His110Leu) c.116A>T (p.His39Leu) n.412A>T n.600A>T c.224A>T (p.His75Leu) n.581A>T c.-477A>T (n.-477A>T)	gnomAD v4
4	g.1001486_1001487del	CA1139658403	IDUA	c.512_513del (p.His171ArgfsTer11) n.568_569del c.371_372del (p.His124ArgfsTer11) c.472_473del c.305_306del (p.His102ArgfsTer11) c.329_330del (p.His110ArgfsTer11) c.116_117del (p.His39ArgfsTer11) n.412_413del n.600_601del c.224_225del (p.His75ArgfsTer11) n.581_582del c.-477_-476del (n.-477_-476del)	ClinVar dbSNP
4	g.1001487T>A	CA355961670	IDUA	c.513T>A (p.His171Gln) n.569T>A c.372T>A (p.His124Gln) c.473T>A c.306T>A (p.His102Gln) c.330T>A (p.His110Gln) c.117T>A (p.His39Gln) n.413T>A n.601T>A c.225T>A (p.His75Gln) n.582T>A c.-476T>A (n.-476T>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001487T>C	CA2801975	IDUA	c.513T>C (p.His171=) n.569T>C c.372T>C (p.His124=) c.473T>C c.306T>C (p.His102=) c.330T>C (p.His110=) c.117T>C (p.His39=) n.413T>C n.601T>C c.225T>C (p.His75=) n.582T>C c.-476T>C (n.-476T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001487T>G	CA355961671	IDUA	c.513T>G (p.His171Gln) n.569T>G c.372T>G (p.His124Gln) c.473T>G c.306T>G (p.His102Gln) c.330T>G (p.His110Gln) c.117T>G (p.His39Gln) n.413T>G n.601T>G c.225T>G (p.His75Gln) n.582T>G c.-476T>G (n.-476T>G)
4	g.1001487T=	CA1433067291	IDUA	c.513T= (p.His171=) n.569T= c.372T= (p.His124=) c.473T= c.306T= (p.His102=) c.330T= (p.His110=) c.117T= (p.His39=) n.413T= n.601T= c.225T= (p.His75=) n.582T= c.-476T= (n.-476T=)
4	g.1001488G>A	CA2801977	IDUA	c.514G>A (p.Val172Ile) n.570G>A c.373G>A (p.Val125Ile) c.474G>A c.307G>A (p.Val103Ile) c.331G>A (p.Val111Ile) c.118G>A (p.Val40Ile) n.414G>A n.602G>A c.226G>A (p.Val76Ile) n.583G>A c.-475G>A (n.-475G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001488G>C	CA2801976	IDUA	c.514G>C (p.Val172Leu) n.570G>C c.373G>C (p.Val125Leu) c.474G>C c.307G>C (p.Val103Leu) c.331G>C (p.Val111Leu) c.118G>C (p.Val40Leu) n.414G>C n.602G>C c.226G>C (p.Val76Leu) n.583G>C c.-475G>C (n.-475G>C)	dbSNP ExAC gnomAD v2
4	g.1001488G=	CA1433067296	IDUA	c.514G= (p.Val172=) n.570G= c.373G= (p.Val125=) c.474G= c.307G= (p.Val103=) c.331G= (p.Val111=) c.118G= (p.Val40=) n.414G= n.602G= c.226G= (p.Val76=) n.583G= c.-475G= (n.-475G=)
4	g.1001488G>T	CA91167108	IDUA	c.514G>T (p.Val172Phe) n.570G>T c.373G>T (p.Val125Phe) c.474G>T c.307G>T (p.Val103Phe) c.331G>T (p.Val111Phe) c.118G>T (p.Val40Phe) n.414G>T n.602G>T c.226G>T (p.Val76Phe) n.583G>T c.-475G>T (n.-475G>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001489T>A	CA355961672	IDUA	c.515T>A (p.Val172Asp) n.571T>A c.374T>A (p.Val125Asp) c.475T>A c.308T>A (p.Val103Asp) c.332T>A (p.Val111Asp) c.119T>A (p.Val40Asp) n.415T>A n.603T>A c.227T>A (p.Val76Asp) n.584T>A c.-474T>A (n.-474T>A)
4	g.1001489T>C	CA91167119	IDUA	c.515T>C (p.Val172Ala) n.571T>C c.374T>C (p.Val125Ala) c.475T>C c.308T>C (p.Val103Ala) c.332T>C (p.Val111Ala) c.119T>C (p.Val40Ala) n.415T>C n.603T>C c.227T>C (p.Val76Ala) n.584T>C c.-474T>C (n.-474T>C)	dbSNP
4	g.1001489T>G	CA355961673	IDUA	c.515T>G (p.Val172Gly) n.571T>G c.374T>G (p.Val125Gly) c.475T>G c.308T>G (p.Val103Gly) c.332T>G (p.Val111Gly) c.119T>G (p.Val40Gly) n.415T>G n.603T>G c.227T>G (p.Val76Gly) n.584T>G c.-474T>G (n.-474T>G)
4	g.1001489T=	CA1433067300	IDUA	c.515T= (p.Val172=) n.571T= c.374T= (p.Val125=) c.475T= c.308T= (p.Val103=) c.332T= (p.Val111=) c.119T= (p.Val40=) n.415T= n.603T= c.227T= (p.Val76=) n.584T= c.-474T= (n.-474T=)
4	g.1001490T>A	CA437918907	IDUA	c.516T>A (p.Val172=) n.572T>A c.375T>A (p.Val125=) c.476T>A c.309T>A (p.Val103=) c.333T>A (p.Val111=) c.120T>A (p.Val40=) n.416T>A n.604T>A c.228T>A (p.Val76=) n.585T>A c.-473T>A (n.-473T>A)
4	g.1001490T>C	CA2801978	IDUA	c.516T>C (p.Val172=) n.572T>C c.375T>C (p.Val125=) c.476T>C c.309T>C (p.Val103=) c.333T>C (p.Val111=) c.120T>C (p.Val40=) n.416T>C n.604T>C c.228T>C (p.Val76=) n.585T>C c.-473T>C (n.-473T>C)	ClinVar dbSNP ExAC gnomAD v4
4	g.1001490T>G	CA437918910	IDUA	c.516T>G (p.Val172=) n.572T>G c.375T>G (p.Val125=) c.476T>G c.309T>G (p.Val103=) c.333T>G (p.Val111=) c.120T>G (p.Val40=) n.416T>G n.604T>G c.228T>G (p.Val76=) n.585T>G c.-473T>G (n.-473T>G)
4	g.1001490T=	CA1433067302	IDUA	c.516T= (p.Val172=) n.572T= c.375T= (p.Val125=) c.476T= c.309T= (p.Val103=) c.333T= (p.Val111=) c.120T= (p.Val40=) n.416T= n.604T= c.228T= (p.Val76=) n.585T= c.-473T= (n.-473T=)
4	g.1001491T>A	CA355961674	IDUA	c.517T>A (p.Ser173Thr) n.573T>A c.376T>A (p.Ser126Thr) c.477T>A c.310T>A (p.Ser104Thr) c.334T>A (p.Ser112Thr) c.121T>A (p.Ser41Thr) n.417T>A n.605T>A c.229T>A (p.Ser77Thr) n.586T>A c.-472T>A (n.-472T>A)
4	g.1001491T>C	CA355961675	IDUA	c.517T>C (p.Ser173Pro) n.573T>C c.376T>C (p.Ser126Pro) c.477T>C c.310T>C (p.Ser104Pro) c.334T>C (p.Ser112Pro) c.121T>C (p.Ser41Pro) n.417T>C n.605T>C c.229T>C (p.Ser77Pro) n.586T>C c.-472T>C (n.-472T>C)
4	g.1001491T>G	CA2801979	IDUA	c.517T>G (p.Ser173Ala) n.573T>G c.376T>G (p.Ser126Ala) c.477T>G c.310T>G (p.Ser104Ala) c.334T>G (p.Ser112Ala) c.121T>G (p.Ser41Ala) n.417T>G n.605T>G c.229T>G (p.Ser77Ala) n.586T>G c.-472T>G (n.-472T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001491T=	CA1433067305	IDUA	c.517T= (p.Ser173=) n.573T= c.376T= (p.Ser126=) c.477T= c.310T= (p.Ser104=) c.334T= (p.Ser112=) c.121T= (p.Ser41=) n.417T= n.605T= c.229T= (p.Ser77=) n.586T= c.-472T= (n.-472T=)
4	g.1001492C>A	CA355961676	IDUA	c.518C>A (p.Ser173Tyr) n.574C>A c.377C>A (p.Ser126Tyr) c.478C>A c.311C>A (p.Ser104Tyr) c.335C>A (p.Ser112Tyr) c.122C>A (p.Ser41Tyr) n.418C>A n.606C>A c.230C>A (p.Ser77Tyr) n.587C>A c.-471C>A (n.-471C>A)
4	g.1001492C=	CA1433067307	IDUA	c.518C= (p.Ser173=) n.574C= c.377C= (p.Ser126=) c.478C= c.311C= (p.Ser104=) c.335C= (p.Ser112=) c.122C= (p.Ser41=) n.418C= n.606C= c.230C= (p.Ser77=) n.587C= c.-471C= (n.-471C=)
4	g.1001492C>G	CA355961677	IDUA	c.518C>G (p.Ser173Cys) n.574C>G c.377C>G (p.Ser126Cys) c.478C>G c.311C>G (p.Ser104Cys) c.335C>G (p.Ser112Cys) c.122C>G (p.Ser41Cys) n.418C>G n.606C>G c.230C>G (p.Ser77Cys) n.587C>G c.-471C>G (n.-471C>G)	gnomAD v4
4	g.1001492C>T	CA355961678	IDUA	c.518C>T (p.Ser173Phe) n.574C>T c.377C>T (p.Ser126Phe) c.478C>T c.311C>T (p.Ser104Phe) c.335C>T (p.Ser112Phe) c.122C>T (p.Ser41Phe) n.418C>T n.606C>T c.230C>T (p.Ser77Phe) n.587C>T c.-471C>T (n.-471C>T)	dbSNP gnomAD v3 gnomAD v4
4	g.1001493C>A	CA437918912	IDUA	c.519C>A (p.Ser173=) n.575C>A c.378C>A (p.Ser126=) c.479C>A c.312C>A (p.Ser104=) c.336C>A (p.Ser112=) c.123C>A (p.Ser41=) n.419C>A n.607C>A c.231C>A (p.Ser77=) n.588C>A c.-470C>A (n.-470C>A)
4	g.1001493C>G	CA437918913	IDUA	c.519C>G (p.Ser173=) n.575C>G c.378C>G (p.Ser126=) c.479C>G c.312C>G (p.Ser104=) c.336C>G (p.Ser112=) c.123C>G (p.Ser41=) n.419C>G n.607C>G c.231C>G (p.Ser77=) n.588C>G c.-470C>G (n.-470C>G)
4	g.1001493C>T	CA437918914	IDUA	c.519C>T (p.Ser173=) n.575C>T c.378C>T (p.Ser126=) c.479C>T c.312C>T (p.Ser104=) c.336C>T (p.Ser112=) c.123C>T (p.Ser41=) n.419C>T n.607C>T c.231C>T (p.Ser77=) n.588C>T c.-470C>T (n.-470C>T)
4	g.1001494A>C	CA355961679	IDUA	c.520A>C (p.Lys174Gln) n.576A>C c.379A>C (p.Lys127Gln) c.480A>C c.313A>C (p.Lys105Gln) c.337A>C (p.Lys113Gln) c.124A>C (p.Lys42Gln) n.420A>C n.608A>C c.232A>C (p.Lys78Gln) n.589A>C c.-469A>C (n.-469A>C)
4	g.1001494A>G	CA355961680	IDUA	c.520A>G (p.Lys174Glu) n.576A>G c.379A>G (p.Lys127Glu) c.480A>G c.313A>G (p.Lys105Glu) c.337A>G (p.Lys113Glu) c.124A>G (p.Lys42Glu) n.420A>G n.608A>G c.232A>G (p.Lys78Glu) n.589A>G c.-469A>G (n.-469A>G)	gnomAD v4
4	g.1001494A>T	CA355961681	IDUA	c.520A>T (p.Lys174Ter) n.576A>T c.379A>T (p.Lys127Ter) c.480A>T c.313A>T (p.Lys105Ter) c.337A>T (p.Lys113Ter) c.124A>T (p.Lys42Ter) n.420A>T n.608A>T c.232A>T (p.Lys78Ter) n.589A>T c.-469A>T (n.-469A>T)	ClinVar
4	g.1001495del	CA2586973518	IDUA	c.521del (p.Lys174SerfsTer20) n.577del c.380del (p.Lys127SerfsTer20) c.481del c.314del (p.Lys105SerfsTer20) c.338del (p.Lys113SerfsTer20) c.125del (p.Lys42SerfsTer20) n.421del n.609del c.233del (p.Lys78SerfsTer20) n.590del c.-468del (n.-468del)
4	g.1001495A=	CA1433067310	IDUA	c.521A= (p.Lys174=) n.577A= c.380A= (p.Lys127=) c.481A= c.314A= (p.Lys105=) c.338A= (p.Lys113=) c.125A= (p.Lys42=) n.421A= n.609A= c.233A= (p.Lys78=) n.590A= c.-468A= (n.-468A=)
4	g.1001495A>C	CA355961682	IDUA	c.521A>C (p.Lys174Thr) n.577A>C c.380A>C (p.Lys127Thr) c.481A>C c.314A>C (p.Lys105Thr) c.338A>C (p.Lys113Thr) c.125A>C (p.Lys42Thr) n.421A>C n.609A>C c.233A>C (p.Lys78Thr) n.590A>C c.-468A>C (n.-468A>C)	dbSNP gnomAD v3 gnomAD v4
4	g.1001495A>G	CA355961684	IDUA	c.521A>G (p.Lys174Arg) n.577A>G c.380A>G (p.Lys127Arg) c.481A>G c.314A>G (p.Lys105Arg) c.338A>G (p.Lys113Arg) c.125A>G (p.Lys42Arg) n.421A>G n.609A>G c.233A>G (p.Lys78Arg) n.590A>G c.-468A>G (n.-468A>G)	gnomAD v4
4	g.1001495A>T	CA355961683	IDUA	c.521A>T (p.Lys174Met) n.577A>T c.380A>T (p.Lys127Met) c.481A>T c.314A>T (p.Lys105Met) c.338A>T (p.Lys113Met) c.125A>T (p.Lys42Met) n.421A>T n.609A>T c.233A>T (p.Lys78Met) n.590A>T c.-468A>T (n.-468A>T)
4	g.1001497_1001508del	CA645372297	IDUA	c.523_534del (p.Trp175_Glu178del) n.579_590del c.382_393del (p.Trp128_Glu131del) c.483_494del c.316_327del (p.Trp106_Glu109del) c.340_351del (p.Trp114_Glu117del) c.127_138del (p.Trp43_Glu46del) n.423_434del n.611_622del c.235_246del (p.Trp79_Glu82del) n.592_603del c.-466_-455del (n.-466_-455del)	ClinVar
4	g.1001496G>A	CA91167142	IDUA	c.522G>A (p.Lys174=) n.578G>A c.381G>A (p.Lys127=) c.482G>A c.315G>A (p.Lys105=) c.339G>A (p.Lys113=) c.126G>A (p.Lys42=) n.422G>A n.610G>A c.234G>A (p.Lys78=) n.591G>A c.-467G>A (n.-467G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001496G>C	CA355961685	IDUA	c.522G>C (p.Lys174Asn) n.578G>C c.381G>C (p.Lys127Asn) c.482G>C c.315G>C (p.Lys105Asn) c.339G>C (p.Lys113Asn) c.126G>C (p.Lys42Asn) n.422G>C n.610G>C c.234G>C (p.Lys78Asn) n.591G>C c.-467G>C (n.-467G>C)	gnomAD v4
4	g.1001496G=	CA1433067313	IDUA	c.522G= (p.Lys174=) n.578G= c.381G= (p.Lys127=) c.482G= c.315G= (p.Lys105=) c.339G= (p.Lys113=) c.126G= (p.Lys42=) n.422G= n.610G= c.234G= (p.Lys78=) n.591G= c.-467G= (n.-467G=)
4	g.1001496G>T	CA355961686	IDUA	c.522G>T (p.Lys174Asn) n.578G>T c.381G>T (p.Lys127Asn) c.482G>T c.315G>T (p.Lys105Asn) c.339G>T (p.Lys113Asn) c.126G>T (p.Lys42Asn) n.422G>T n.610G>T c.234G>T (p.Lys78Asn) n.591G>T c.-467G>T (n.-467G>T)
4	g.1001497T>A	CA355961687	IDUA	c.523T>A (p.Trp175Arg) n.579T>A c.382T>A (p.Trp128Arg) c.483T>A c.316T>A (p.Trp106Arg) c.340T>A (p.Trp114Arg) c.127T>A (p.Trp43Arg) n.423T>A n.611T>A c.235T>A (p.Trp79Arg) n.592T>A c.-466T>A (n.-466T>A)
4	g.1001497T>C	CA10576337	IDUA	c.523T>C (p.Trp175Arg) n.579T>C c.382T>C (p.Trp128Arg) c.483T>C c.316T>C (p.Trp106Arg) c.340T>C (p.Trp114Arg) c.127T>C (p.Trp43Arg) n.423T>C n.611T>C c.235T>C (p.Trp79Arg) n.592T>C c.-466T>C (n.-466T>C)	ClinVar dbSNP
4	g.1001497T>G	CA355961688	IDUA	c.523T>G (p.Trp175Gly) n.579T>G c.382T>G (p.Trp128Gly) c.483T>G c.316T>G (p.Trp106Gly) c.340T>G (p.Trp114Gly) c.127T>G (p.Trp43Gly) n.423T>G n.611T>G c.235T>G (p.Trp79Gly) n.592T>G c.-466T>G (n.-466T>G)
4	g.1001497T=	CA1433067318	IDUA	c.523T= (p.Trp175=) n.579T= c.382T= (p.Trp128=) c.483T= c.316T= (p.Trp106=) c.340T= (p.Trp114=) c.127T= (p.Trp43=) n.423T= n.611T= c.235T= (p.Trp79=) n.592T= c.-466T= (n.-466T=)
4	g.1001497_1001517del	CA2586973519	IDUA	c.523_543del (p.Trp175_Asn181del) n.579_599del c.382_402del (p.Trp128_Asn134del) c.483_503del c.316_336del (p.Trp106_Asn112del) c.340_360del (p.Trp114_Asn120del) c.127_147del (p.Trp43_Asn49del) n.423_443del n.611_631del c.235_255del (p.Trp79_Asn85del) n.592_612del c.-466_-446del (n.-466_-446del)
4	g.1001498G>A	CA355961689	IDUA	c.524G>A (p.Trp175Ter) n.580G>A c.383G>A (p.Trp128Ter) c.484G>A c.317G>A (p.Trp106Ter) c.341G>A (p.Trp114Ter) c.128G>A (p.Trp43Ter) n.424G>A n.612G>A c.236G>A (p.Trp79Ter) n.593G>A c.-465G>A (n.-465G>A)	gnomAD v4
4	g.1001498G>C	CA355961690	IDUA	c.524G>C (p.Trp175Ser) n.580G>C c.383G>C (p.Trp128Ser) c.484G>C c.317G>C (p.Trp106Ser) c.341G>C (p.Trp114Ser) c.128G>C (p.Trp43Ser) n.424G>C n.612G>C c.236G>C (p.Trp79Ser) n.593G>C c.-465G>C (n.-465G>C)
4	g.1001498G>T	CA355961691	IDUA	c.524G>T (p.Trp175Leu) n.580G>T c.383G>T (p.Trp128Leu) c.484G>T c.317G>T (p.Trp106Leu) c.341G>T (p.Trp114Leu) c.128G>T (p.Trp43Leu) n.424G>T n.612G>T c.236G>T (p.Trp79Leu) n.593G>T c.-465G>T (n.-465G>T)
4	g.1001499G>A	CA2801980	IDUA	c.525G>A (p.Trp175Ter) n.581G>A c.384G>A (p.Trp128Ter) c.485G>A c.318G>A (p.Trp106Ter) c.342G>A (p.Trp114Ter) c.129G>A (p.Trp43Ter) n.425G>A n.613G>A c.237G>A (p.Trp79Ter) n.594G>A c.-464G>A (n.-464G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001499G>C	CA355961692	IDUA	c.525G>C (p.Trp175Cys) n.581G>C c.384G>C (p.Trp128Cys) c.485G>C c.318G>C (p.Trp106Cys) c.342G>C (p.Trp114Cys) c.129G>C (p.Trp43Cys) n.425G>C n.613G>C c.237G>C (p.Trp79Cys) n.594G>C c.-464G>C (n.-464G>C)
4	g.1001499G=	CA1433067329	IDUA	c.525G= (p.Trp175=) n.581G= c.384G= (p.Trp128=) c.485G= c.318G= (p.Trp106=) c.342G= (p.Trp114=) c.129G= (p.Trp43=) n.425G= n.613G= c.237G= (p.Trp79=) n.594G= c.-464G= (n.-464G=)
4	g.1001499G>T	CA355961693	IDUA	c.525G>T (p.Trp175Cys) n.581G>T c.384G>T (p.Trp128Cys) c.485G>T c.318G>T (p.Trp106Cys) c.342G>T (p.Trp114Cys) c.129G>T (p.Trp43Cys) n.425G>T n.613G>T c.237G>T (p.Trp79Cys) n.594G>T c.-464G>T (n.-464G>T)
4	g.1001500A>C	CA355961696	IDUA	c.526A>C (p.Asn176His) n.582A>C c.385A>C (p.Asn129His) c.486A>C c.319A>C (p.Asn107His) c.343A>C (p.Asn115His) c.130A>C (p.Asn44His) n.426A>C n.614A>C c.238A>C (p.Asn80His) n.595A>C c.-463A>C (n.-463A>C)
4	g.1001500A>G	CA355961695	IDUA	c.526A>G (p.Asn176Asp) n.582A>G c.385A>G (p.Asn129Asp) c.486A>G c.319A>G (p.Asn107Asp) c.343A>G (p.Asn115Asp) c.130A>G (p.Asn44Asp) n.426A>G n.614A>G c.238A>G (p.Asn80Asp) n.595A>G c.-463A>G (n.-463A>G)
4	g.1001500A>T	CA355961694	IDUA	c.526A>T (p.Asn176Tyr) n.582A>T c.385A>T (p.Asn129Tyr) c.486A>T c.319A>T (p.Asn107Tyr) c.343A>T (p.Asn115Tyr) c.130A>T (p.Asn44Tyr) n.426A>T n.614A>T c.238A>T (p.Asn80Tyr) n.595A>T c.-463A>T (n.-463A>T)
4	g.1001501A>C	CA355961697	IDUA	c.527A>C (p.Asn176Thr) n.583A>C c.386A>C (p.Asn129Thr) c.487A>C c.320A>C (p.Asn107Thr) c.344A>C (p.Asn115Thr) c.131A>C (p.Asn44Thr) n.427A>C n.615A>C c.239A>C (p.Asn80Thr) n.596A>C c.-462A>C (n.-462A>C)
4	g.1001501A>G	CA355961698	IDUA	c.527A>G (p.Asn176Ser) n.583A>G c.386A>G (p.Asn129Ser) c.487A>G c.320A>G (p.Asn107Ser) c.344A>G (p.Asn115Ser) c.131A>G (p.Asn44Ser) n.427A>G n.615A>G c.239A>G (p.Asn80Ser) n.596A>G c.-462A>G (n.-462A>G)
4	g.1001501A>T	CA355961699	IDUA	c.527A>T (p.Asn176Ile) n.583A>T c.386A>T (p.Asn129Ile) c.487A>T c.320A>T (p.Asn107Ile) c.344A>T (p.Asn115Ile) c.131A>T (p.Asn44Ile) n.427A>T n.615A>T c.239A>T (p.Asn80Ile) n.596A>T c.-462A>T (n.-462A>T)
4	g.1001502C>A	CA355961700	IDUA	c.528C>A (p.Asn176Lys) n.584C>A c.387C>A (p.Asn129Lys) c.488C>A c.321C>A (p.Asn107Lys) c.345C>A (p.Asn115Lys) c.132C>A (p.Asn44Lys) n.428C>A n.616C>A c.240C>A (p.Asn80Lys) n.597C>A c.-461C>A (n.-461C>A)
4	g.1001502C=	CA1433067335	IDUA	c.528C= (p.Asn176=) n.584C= c.387C= (p.Asn129=) c.488C= c.321C= (p.Asn107=) c.345C= (p.Asn115=) c.132C= (p.Asn44=) n.428C= n.616C= c.240C= (p.Asn80=) n.597C= c.-461C= (n.-461C=)
4	g.1001502C>G	CA355961701	IDUA	c.528C>G (p.Asn176Lys) n.584C>G c.387C>G (p.Asn129Lys) c.488C>G c.321C>G (p.Asn107Lys) c.345C>G (p.Asn115Lys) c.132C>G (p.Asn44Lys) n.428C>G n.616C>G c.240C>G (p.Asn80Lys) n.597C>G c.-461C>G (n.-461C>G)
4	g.1001502C>T	CA2801981	IDUA	c.528C>T (p.Asn176=) n.584C>T c.387C>T (p.Asn129=) c.488C>T c.321C>T (p.Asn107=) c.345C>T (p.Asn115=) c.132C>T (p.Asn44=) n.428C>T n.616C>T c.240C>T (p.Asn80=) n.597C>T c.-461C>T (n.-461C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001503T>A	CA355961702	IDUA	c.529T>A (p.Phe177Ile) n.585T>A c.388T>A (p.Phe130Ile) c.489T>A c.322T>A (p.Phe108Ile) c.346T>A (p.Phe116Ile) c.133T>A (p.Phe45Ile) n.429T>A n.617T>A c.241T>A (p.Phe81Ile) n.598T>A c.-460T>A (n.-460T>A)
4	g.1001503T>C	CA355961703	IDUA	c.529T>C (p.Phe177Leu) n.585T>C c.388T>C (p.Phe130Leu) c.489T>C c.322T>C (p.Phe108Leu) c.346T>C (p.Phe116Leu) c.133T>C (p.Phe45Leu) n.429T>C n.617T>C c.241T>C (p.Phe81Leu) n.598T>C c.-460T>C (n.-460T>C)
4	g.1001503T>G	CA355961704	IDUA	c.529T>G (p.Phe177Val) n.585T>G c.388T>G (p.Phe130Val) c.489T>G c.322T>G (p.Phe108Val) c.346T>G (p.Phe116Val) c.133T>G (p.Phe45Val) n.429T>G n.617T>G c.241T>G (p.Phe81Val) n.598T>G c.-460T>G (n.-460T>G)
4	g.1001504dup	CA2586973520	IDUA	c.530dup (p.Glu178ArgfsTer5) n.586dup c.389dup (p.Glu131ArgfsTer5) c.490dup c.323dup (p.Glu109ArgfsTer5) c.347dup (p.Glu117ArgfsTer5) c.134dup (p.Glu46ArgfsTer5) n.430dup n.618dup c.242dup (p.Glu82ArgfsTer5) n.599dup c.-459dup (n.-459dup)
4	g.1001504T>A	CA355961705	IDUA	c.530T>A (p.Phe177Tyr) n.586T>A c.389T>A (p.Phe130Tyr) c.490T>A c.323T>A (p.Phe108Tyr) c.347T>A (p.Phe116Tyr) c.134T>A (p.Phe45Tyr) n.430T>A n.618T>A c.242T>A (p.Phe81Tyr) n.599T>A c.-459T>A (n.-459T>A)
4	g.1001504T>C	CA355961706	IDUA	c.530T>C (p.Phe177Ser) n.586T>C c.389T>C (p.Phe130Ser) c.490T>C c.323T>C (p.Phe108Ser) c.347T>C (p.Phe116Ser) c.134T>C (p.Phe45Ser) n.430T>C n.618T>C c.242T>C (p.Phe81Ser) n.599T>C c.-459T>C (n.-459T>C)
4	g.1001504T>G	CA355961707	IDUA	c.530T>G (p.Phe177Cys) n.586T>G c.389T>G (p.Phe130Cys) c.490T>G c.323T>G (p.Phe108Cys) c.347T>G (p.Phe116Cys) c.134T>G (p.Phe45Cys) n.430T>G n.618T>G c.242T>G (p.Phe81Cys) n.599T>G c.-459T>G (n.-459T>G)	ClinVar
4	g.1001505C>A	CA355961708	IDUA	c.531C>A (p.Phe177Leu) n.587C>A c.390C>A (p.Phe130Leu) c.491C>A c.324C>A (p.Phe108Leu) c.348C>A (p.Phe116Leu) c.135C>A (p.Phe45Leu) n.431C>A n.619C>A c.243C>A (p.Phe81Leu) n.600C>A c.-458C>A (n.-458C>A)
4	g.1001505C=	CA1433067339	IDUA	c.531C= (p.Phe177=) n.587C= c.390C= (p.Phe130=) c.491C= c.324C= (p.Phe108=) c.348C= (p.Phe116=) c.135C= (p.Phe45=) n.431C= n.619C= c.243C= (p.Phe81=) n.600C= c.-458C= (n.-458C=)
4	g.1001505C>G	CA2801983	IDUA	c.531C>G (p.Phe177Leu) n.587C>G c.390C>G (p.Phe130Leu) c.491C>G c.324C>G (p.Phe108Leu) c.348C>G (p.Phe116Leu) c.135C>G (p.Phe45Leu) n.431C>G n.619C>G c.243C>G (p.Phe81Leu) n.600C>G c.-458C>G (n.-458C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001505C>T	CA2801982	IDUA	c.531C>T (p.Phe177=) n.587C>T c.390C>T (p.Phe130=) c.491C>T c.324C>T (p.Phe108=) c.348C>T (p.Phe116=) c.135C>T (p.Phe45=) n.431C>T n.619C>T c.243C>T (p.Phe81=) n.600C>T c.-458C>T (n.-458C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4	g.1001506G>A	CA355961709	IDUA	c.532G>A (p.Glu178Lys) n.588G>A c.391G>A (p.Glu131Lys) c.492G>A c.325G>A (p.Glu109Lys) c.349G>A (p.Glu117Lys) c.136G>A (p.Glu46Lys) n.432G>A n.620G>A c.244G>A (p.Glu82Lys) n.601G>A c.-457G>A (n.-457G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4	g.1001506G>C	CA91167206	IDUA	c.532G>C (p.Glu178Gln) n.588G>C c.391G>C (p.Glu131Gln) c.492G>C c.325G>C (p.Glu109Gln) c.349G>C (p.Glu117Gln) c.136G>C (p.Glu46Gln) n.432G>C n.620G>C c.244G>C (p.Glu82Gln) n.601G>C c.-457G>C (n.-457G>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001506G=	CA1433067345	IDUA	c.532G= (p.Glu178=) n.588G= c.391G= (p.Glu131=) c.492G= c.325G= (p.Glu109=) c.349G= (p.Glu117=) c.136G= (p.Glu46=) n.432G= n.620G= c.244G= (p.Glu82=) n.601G= c.-457G= (n.-457G=)
4	g.1001506G>T	CA355961710	IDUA	c.532G>T (p.Glu178Ter) n.588G>T c.391G>T (p.Glu131Ter) c.492G>T c.325G>T (p.Glu109Ter) c.349G>T (p.Glu117Ter) c.136G>T (p.Glu46Ter) n.432G>T n.620G>T c.244G>T (p.Glu82Ter) n.601G>T c.-457G>T (n.-457G>T)
4	g.1001507A>C	CA355961711	IDUA	c.533A>C (p.Glu178Ala) n.589A>C c.392A>C (p.Glu131Ala) c.493A>C c.326A>C (p.Glu109Ala) c.350A>C (p.Glu117Ala) c.137A>C (p.Glu46Ala) n.433A>C n.621A>C c.245A>C (p.Glu82Ala) n.602A>C c.-456A>C (n.-456A>C)
4	g.1001507A>G	CA355961713	IDUA	c.533A>G (p.Glu178Gly) n.589A>G c.392A>G (p.Glu131Gly) c.493A>G c.326A>G (p.Glu109Gly) c.350A>G (p.Glu117Gly) c.137A>G (p.Glu46Gly) n.433A>G n.621A>G c.245A>G (p.Glu82Gly) n.602A>G c.-456A>G (n.-456A>G)
4	g.1001507A>T	CA355961712	IDUA	c.533A>T (p.Glu178Val) n.589A>T c.392A>T (p.Glu131Val) c.493A>T c.326A>T (p.Glu109Val) c.350A>T (p.Glu117Val) c.137A>T (p.Glu46Val) n.433A>T n.621A>T c.245A>T (p.Glu82Val) n.602A>T c.-456A>T (n.-456A>T)
4	g.1001508G>A	CA2801984	IDUA	c.534G>A (p.Glu178=) n.590G>A c.393G>A (p.Glu131=) c.494G>A c.327G>A (p.Glu109=) c.351G>A (p.Glu117=) c.138G>A (p.Glu46=) n.434G>A n.622G>A c.246G>A (p.Glu82=) n.603G>A c.-455G>A (n.-455G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001508G>C	CA355961715	IDUA	c.534G>C (p.Glu178Asp) n.590G>C c.393G>C (p.Glu131Asp) c.494G>C c.327G>C (p.Glu109Asp) c.351G>C (p.Glu117Asp) c.138G>C (p.Glu46Asp) n.434G>C n.622G>C c.246G>C (p.Glu82Asp) n.603G>C c.-455G>C (n.-455G>C)
4	g.1001508G=	CA1433067349	IDUA	c.534G= (p.Glu178=) n.590G= c.393G= (p.Glu131=) c.494G= c.327G= (p.Glu109=) c.351G= (p.Glu117=) c.138G= (p.Glu46=) n.434G= n.622G= c.246G= (p.Glu82=) n.603G= c.-455G= (n.-455G=)
4	g.1001508G>T	CA355961714	IDUA	c.534G>T (p.Glu178Asp) n.590G>T c.393G>T (p.Glu131Asp) c.494G>T c.327G>T (p.Glu109Asp) c.351G>T (p.Glu117Asp) c.138G>T (p.Glu46Asp) n.434G>T n.622G>T c.246G>T (p.Glu82Asp) n.603G>T c.-455G>T (n.-455G>T)	ClinVar
4	g.1001509A=	CA1433067352	IDUA	c.535A= (p.Thr179=) n.591A= c.394A= (p.Thr132=) c.495A= c.328A= (p.Thr110=) c.352A= (p.Thr118=) c.139A= (p.Thr47=) n.435A= n.623A= c.247A= (p.Thr83=) n.604A= c.-454A= (n.-454A=)
4	g.1001509A>C	CA355961716	IDUA	c.535A>C (p.Thr179Pro) n.591A>C c.394A>C (p.Thr132Pro) c.495A>C c.328A>C (p.Thr110Pro) c.352A>C (p.Thr118Pro) c.139A>C (p.Thr47Pro) n.435A>C n.623A>C c.247A>C (p.Thr83Pro) n.604A>C c.-454A>C (n.-454A>C)
4	g.1001509A>G	CA91167233	IDUA	c.535A>G (p.Thr179Ala) n.591A>G c.394A>G (p.Thr132Ala) c.495A>G c.328A>G (p.Thr110Ala) c.352A>G (p.Thr118Ala) c.139A>G (p.Thr47Ala) n.435A>G n.623A>G c.247A>G (p.Thr83Ala) n.604A>G c.-454A>G (n.-454A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001509A>T	CA2801985	IDUA	c.535A>T (p.Thr179Ser) n.591A>T c.394A>T (p.Thr132Ser) c.495A>T c.328A>T (p.Thr110Ser) c.352A>T (p.Thr118Ser) c.139A>T (p.Thr47Ser) n.435A>T n.623A>T c.247A>T (p.Thr83Ser) n.604A>T c.-454A>T (n.-454A>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001510C>A	CA355961717	IDUA	c.536C>A (p.Thr179Lys) n.592C>A c.395C>A (p.Thr132Lys) c.496C>A c.329C>A (p.Thr110Lys) c.353C>A (p.Thr118Lys) c.140C>A (p.Thr47Lys) n.436C>A n.624C>A c.248C>A (p.Thr83Lys) n.605C>A c.-453C>A (n.-453C>A)	ClinVar
4	g.1001510C=	CA1433067357	IDUA	c.536C= (p.Thr179=) n.592C= c.395C= (p.Thr132=) c.496C= c.329C= (p.Thr110=) c.353C= (p.Thr118=) c.140C= (p.Thr47=) n.436C= n.624C= c.248C= (p.Thr83=) n.605C= c.-453C= (n.-453C=)
4	g.1001510C>G	CA355961718	IDUA	c.536C>G (p.Thr179Arg) n.592C>G c.395C>G (p.Thr132Arg) c.496C>G c.329C>G (p.Thr110Arg) c.353C>G (p.Thr118Arg) c.140C>G (p.Thr47Arg) n.436C>G n.624C>G c.248C>G (p.Thr83Arg) n.605C>G c.-453C>G (n.-453C>G)	ClinVar dbSNP gnomAD v4
4	g.1001510C>T	CA2801986	IDUA	c.536C>T (p.Thr179Met) n.592C>T c.395C>T (p.Thr132Met) c.496C>T c.329C>T (p.Thr110Met) c.353C>T (p.Thr118Met) c.140C>T (p.Thr47Met) n.436C>T n.624C>T c.248C>T (p.Thr83Met) n.605C>T c.-453C>T (n.-453C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001511G>A	CA2801987	IDUA	c.537G>A (p.Thr179=) n.593G>A c.396G>A (p.Thr132=) c.497G>A c.330G>A (p.Thr110=) c.354G>A (p.Thr118=) c.141G>A (p.Thr47=) n.437G>A n.625G>A c.249G>A (p.Thr83=) n.606G>A c.-452G>A (n.-452G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001511G>C	CA437918915	IDUA	c.537G>C (p.Thr179=) n.593G>C c.396G>C (p.Thr132=) c.497G>C c.330G>C (p.Thr110=) c.354G>C (p.Thr118=) c.141G>C (p.Thr47=) n.437G>C n.625G>C c.249G>C (p.Thr83=) n.606G>C c.-452G>C (n.-452G>C)
4	g.1001511G=	CA1433067364	IDUA	c.537G= (p.Thr179=) n.593G= c.396G= (p.Thr132=) c.497G= c.330G= (p.Thr110=) c.354G= (p.Thr118=) c.141G= (p.Thr47=) n.437G= n.625G= c.249G= (p.Thr83=) n.606G= c.-452G= (n.-452G=)
4	g.1001511G>T	CA437918916	IDUA	c.537G>T (p.Thr179=) n.593G>T c.396G>T (p.Thr132=) c.497G>T c.330G>T (p.Thr110=) c.354G>T (p.Thr118=) c.141G>T (p.Thr47=) n.437G>T n.625G>T c.249G>T (p.Thr83=) n.606G>T c.-452G>T (n.-452G>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.1001512T>A	CA355961719	IDUA	c.538T>A (p.Trp180Arg) n.594T>A c.397T>A (p.Trp133Arg) c.498T>A c.331T>A (p.Trp111Arg) c.355T>A (p.Trp119Arg) c.142T>A (p.Trp48Arg) n.438T>A n.626T>A c.250T>A (p.Trp84Arg) n.607T>A c.-451T>A (n.-451T>A)
4	g.1001512T>C	CA355961720	IDUA	c.538T>C (p.Trp180Arg) n.594T>C c.397T>C (p.Trp133Arg) c.498T>C c.331T>C (p.Trp111Arg) c.355T>C (p.Trp119Arg) c.142T>C (p.Trp48Arg) n.438T>C n.626T>C c.250T>C (p.Trp84Arg) n.607T>C c.-451T>C (n.-451T>C)	gnomAD v4
4	g.1001512T>G	CA355961721	IDUA	c.538T>G (p.Trp180Gly) n.594T>G c.397T>G (p.Trp133Gly) c.498T>G c.331T>G (p.Trp111Gly) c.355T>G (p.Trp119Gly) c.142T>G (p.Trp48Gly) n.438T>G n.626T>G c.250T>G (p.Trp84Gly) n.607T>G c.-451T>G (n.-451T>G)
4	g.1001514_1001518del	CA2573332240	IDUA	c.540_544del (p.Trp180Ter) n.596_600del c.399_403del (p.Trp133Ter) c.500_504del c.333_337del (p.Trp111Ter) c.357_361del (p.Trp119Ter) c.144_148del (p.Trp48Ter) n.440_444del n.628_632del c.252_256del (p.Trp84Ter) n.609_613del c.-449_-445del (n.-449_-445del)	gnomAD v4
4	g.1001513G>A	CA355961722	IDUA	c.539G>A (p.Trp180Ter) n.595G>A c.398G>A (p.Trp133Ter) c.499G>A c.332G>A (p.Trp111Ter) c.356G>A (p.Trp119Ter) c.143G>A (p.Trp48Ter) n.439G>A n.627G>A c.251G>A (p.Trp84Ter) n.608G>A c.-450G>A (n.-450G>A)	ClinVar dbSNP
4	g.1001513G>C	CA91167249	IDUA	c.539G>C (p.Trp180Ser) n.595G>C c.398G>C (p.Trp133Ser) c.499G>C c.332G>C (p.Trp111Ser) c.356G>C (p.Trp119Ser) c.143G>C (p.Trp48Ser) n.439G>C n.627G>C c.251G>C (p.Trp84Ser) n.608G>C c.-450G>C (n.-450G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001513G=	CA1433067368	IDUA	c.539G= (p.Trp180=) n.595G= c.398G= (p.Trp133=) c.499G= c.332G= (p.Trp111=) c.356G= (p.Trp119=) c.143G= (p.Trp48=) n.439G= n.627G= c.251G= (p.Trp84=) n.608G= c.-450G= (n.-450G=)
4	g.1001513G>T	CA355961723	IDUA	c.539G>T (p.Trp180Leu) n.595G>T c.398G>T (p.Trp133Leu) c.499G>T c.332G>T (p.Trp111Leu) c.356G>T (p.Trp119Leu) c.143G>T (p.Trp48Leu) n.439G>T n.627G>T c.251G>T (p.Trp84Leu) n.608G>T c.-450G>T (n.-450G>T)
4	g.1001514dup	CA913108030	IDUA	c.540dup (p.Asn181GlufsTer2) n.596dup c.399dup (p.Asn134GlufsTer2) c.500dup c.333dup (p.Asn112GlufsTer2) c.357dup (p.Asn120GlufsTer2) c.144dup (p.Asn49GlufsTer2) n.440dup n.628dup c.252dup (p.Asn85GlufsTer2) n.609dup c.-449dup (n.-449dup)
4	g.1001514G>A	CA355961724	IDUA	c.540G>A (p.Trp180Ter) n.596G>A c.399G>A (p.Trp133Ter) c.500G>A c.333G>A (p.Trp111Ter) c.357G>A (p.Trp119Ter) c.144G>A (p.Trp48Ter) n.440G>A n.628G>A c.252G>A (p.Trp84Ter) n.609G>A c.-449G>A (n.-449G>A)	ClinVar dbSNP gnomAD v4
4	g.1001514G>C	CA355961725	IDUA	c.540G>C (p.Trp180Cys) n.596G>C c.399G>C (p.Trp133Cys) c.500G>C c.333G>C (p.Trp111Cys) c.357G>C (p.Trp119Cys) c.144G>C (p.Trp48Cys) n.440G>C n.628G>C c.252G>C (p.Trp84Cys) n.609G>C c.-449G>C (n.-449G>C)	ClinVar
4	g.1001514G=	CA1433067372	IDUA	c.540G= (p.Trp180=) n.596G= c.399G= (p.Trp133=) c.500G= c.333G= (p.Trp111=) c.357G= (p.Trp119=) c.144G= (p.Trp48=) n.440G= n.628G= c.252G= (p.Trp84=) n.609G= c.-449G= (n.-449G=)
4	g.1001514G>T	CA355961726	IDUA	c.540G>T (p.Trp180Cys) n.596G>T c.399G>T (p.Trp133Cys) c.500G>T c.333G>T (p.Trp111Cys) c.357G>T (p.Trp119Cys) c.144G>T (p.Trp48Cys) n.440G>T n.628G>T c.252G>T (p.Trp84Cys) n.609G>T c.-449G>T (n.-449G>T)
4	g.1001515A>C	CA355961729	IDUA	c.541A>C (p.Asn181His) n.597A>C c.400A>C (p.Asn134His) c.501A>C c.334A>C (p.Asn112His) c.358A>C (p.Asn120His) c.145A>C (p.Asn49His) n.441A>C n.629A>C c.253A>C (p.Asn85His) n.610A>C c.-448A>C (n.-448A>C)
4	g.1001515A>G	CA355961727	IDUA	c.541A>G (p.Asn181Asp) n.597A>G c.400A>G (p.Asn134Asp) c.501A>G c.334A>G (p.Asn112Asp) c.358A>G (p.Asn120Asp) c.145A>G (p.Asn49Asp) n.441A>G n.629A>G c.253A>G (p.Asn85Asp) n.610A>G c.-448A>G (n.-448A>G)
4	g.1001515A>T	CA355961728	IDUA	c.541A>T (p.Asn181Tyr) n.597A>T c.400A>T (p.Asn134Tyr) c.501A>T c.334A>T (p.Asn112Tyr) c.358A>T (p.Asn120Tyr) c.145A>T (p.Asn49Tyr) n.441A>T n.629A>T c.253A>T (p.Asn85Tyr) n.610A>T c.-448A>T (n.-448A>T)
4	g.1001516dup	CA658823285	IDUA	c.542dup (p.Asn181LysfsTer2) n.598dup c.401dup (p.Asn134LysfsTer2) c.502dup c.335dup (p.Asn112LysfsTer2) c.359dup (p.Asn120LysfsTer2) c.146dup (p.Asn49LysfsTer2) n.442dup n.630dup c.254dup (p.Asn85LysfsTer2) n.611dup c.-447dup (n.-447dup)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001516A=	CA1433067377	IDUA	c.542A= (p.Asn181=) n.598A= c.401A= (p.Asn134=) c.502A= c.335A= (p.Asn112=) c.359A= (p.Asn120=) c.146A= (p.Asn49=) n.442A= n.630A= c.254A= (p.Asn85=) n.611A= c.-447A= (n.-447A=)
4	g.1001516A>C	CA355961730	IDUA	c.542A>C (p.Asn181Thr) n.598A>C c.401A>C (p.Asn134Thr) c.502A>C c.335A>C (p.Asn112Thr) c.359A>C (p.Asn120Thr) c.146A>C (p.Asn49Thr) n.442A>C n.630A>C c.254A>C (p.Asn85Thr) n.611A>C c.-447A>C (n.-447A>C)
4	g.1001516A>G	CA355961731	IDUA	c.542A>G (p.Asn181Ser) n.598A>G c.401A>G (p.Asn134Ser) c.502A>G c.335A>G (p.Asn112Ser) c.359A>G (p.Asn120Ser) c.146A>G (p.Asn49Ser) n.442A>G n.630A>G c.254A>G (p.Asn85Ser) n.611A>G c.-447A>G (n.-447A>G)	ClinVar dbSNP gnomAD v4
4	g.1001516A>T	CA355961732	IDUA	c.542A>T (p.Asn181Ile) n.598A>T c.401A>T (p.Asn134Ile) c.502A>T c.335A>T (p.Asn112Ile) c.359A>T (p.Asn120Ile) c.146A>T (p.Asn49Ile) n.442A>T n.630A>T c.254A>T (p.Asn85Ile) n.611A>T c.-447A>T (n.-447A>T)
4	g.1001517T>A	CA355961733	IDUA	c.543T>A (p.Asn181Lys) n.599T>A c.402T>A (p.Asn134Lys) c.503T>A c.336T>A (p.Asn112Lys) c.360T>A (p.Asn120Lys) c.147T>A (p.Asn49Lys) n.443T>A n.631T>A c.255T>A (p.Asn85Lys) n.612T>A c.-446T>A (n.-446T>A)
4	g.1001517T>C	CA145885	IDUA	c.543T>C (p.Asn181=) n.599T>C c.402T>C (p.Asn134=) c.503T>C c.336T>C (p.Asn112=) c.360T>C (p.Asn120=) c.147T>C (p.Asn49=) n.443T>C n.631T>C c.255T>C (p.Asn85=) n.612T>C c.-446T>C (n.-446T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001517T>G	CA355961734	IDUA	c.543T>G (p.Asn181Lys) n.599T>G c.402T>G (p.Asn134Lys) c.503T>G c.336T>G (p.Asn112Lys) c.360T>G (p.Asn120Lys) c.147T>G (p.Asn49Lys) n.443T>G n.631T>G c.255T>G (p.Asn85Lys) n.612T>G c.-446T>G (n.-446T>G)
4	g.1001517T=	CA1433067384	IDUA	c.543T= (p.Asn181=) n.599T= c.402T= (p.Asn134=) c.503T= c.336T= (p.Asn112=) c.360T= (p.Asn120=) c.147T= (p.Asn49=) n.443T= n.631T= c.255T= (p.Asn85=) n.612T= c.-446T= (n.-446T=)
4	g.1001517_1001518delinsCA	CA2739269988	IDUA	c.543_544delinsCA (p.Glu182Lys) n.599_600delinsCA c.402_403delinsCA (p.Glu135Lys) c.503_504delinsCA c.336_337delinsCA (p.Glu113Lys) c.360_361delinsCA (p.Glu121Lys) c.147_148delinsCA (p.Glu50Lys) n.443_444delinsCA n.631_632delinsCA c.255_256delinsCA (p.Glu86Lys) n.612_613delinsCA c.-446_-445delinsCA (n.-446_-445delinsCA)	ClinVar
4	g.1001518G>A	CA2801988	IDUA	c.544G>A (p.Glu182Lys) n.600G>A c.403G>A (p.Glu135Lys) c.504G>A c.337G>A (p.Glu113Lys) c.361G>A (p.Glu121Lys) c.148G>A (p.Glu50Lys) n.444G>A n.632G>A c.256G>A (p.Glu86Lys) n.613G>A c.-445G>A (n.-445G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001518G>C	CA355961735	IDUA	c.544G>C (p.Glu182Gln) n.600G>C c.403G>C (p.Glu135Gln) c.504G>C c.337G>C (p.Glu113Gln) c.361G>C (p.Glu121Gln) c.148G>C (p.Glu50Gln) n.444G>C n.632G>C c.256G>C (p.Glu86Gln) n.613G>C c.-445G>C (n.-445G>C)
4	g.1001518G=	CA1433067389	IDUA	c.544G= (p.Glu182=) n.600G= c.403G= (p.Glu135=) c.504G= c.337G= (p.Glu113=) c.361G= (p.Glu121=) c.148G= (p.Glu50=) n.444G= n.632G= c.256G= (p.Glu86=) n.613G= c.-445G= (n.-445G=)
4	g.1001518G>T	CA355961736	IDUA	c.544G>T (p.Glu182Ter) n.600G>T c.403G>T (p.Glu135Ter) c.504G>T c.337G>T (p.Glu113Ter) c.361G>T (p.Glu121Ter) c.148G>T (p.Glu50Ter) n.444G>T n.632G>T c.256G>T (p.Glu86Ter) n.613G>T c.-445G>T (n.-445G>T)
4	g.1001519A>C	CA355961739	IDUA	c.545A>C (p.Glu182Ala) n.601A>C c.404A>C (p.Glu135Ala) c.505A>C c.338A>C (p.Glu113Ala) c.362A>C (p.Glu121Ala) c.149A>C (p.Glu50Ala) n.445A>C n.633A>C c.257A>C (p.Glu86Ala) n.614A>C c.-444A>C (n.-444A>C)
4	g.1001519A>G	CA355961738	IDUA	c.545A>G (p.Glu182Gly) n.601A>G c.404A>G (p.Glu135Gly) c.505A>G c.338A>G (p.Glu113Gly) c.362A>G (p.Glu121Gly) c.149A>G (p.Glu50Gly) n.445A>G n.633A>G c.257A>G (p.Glu86Gly) n.614A>G c.-444A>G (n.-444A>G)
4	g.1001519A>T	CA355961737	IDUA	c.545A>T (p.Glu182Val) n.601A>T c.404A>T (p.Glu135Val) c.505A>T c.338A>T (p.Glu113Val) c.362A>T (p.Glu121Val) c.149A>T (p.Glu50Val) n.445A>T n.633A>T c.257A>T (p.Glu86Val) n.614A>T c.-444A>T (n.-444A>T)
4	g.1001520G>A	CA437918917	IDUA	c.546G>A (p.Glu182=) n.602G>A c.405G>A (p.Glu135=) c.506G>A c.339G>A (p.Glu113=) c.363G>A (p.Glu121=) c.150G>A (p.Glu50=) n.446G>A n.634G>A c.258G>A (p.Glu86=) n.615G>A c.-443G>A (n.-443G>A)	gnomAD v4
4	g.1001520G>C	CA355961740	IDUA	c.546G>C (p.Glu182Asp) n.602G>C c.405G>C (p.Glu135Asp) c.506G>C c.339G>C (p.Glu113Asp) c.363G>C (p.Glu121Asp) c.150G>C (p.Glu50Asp) n.446G>C n.634G>C c.258G>C (p.Glu86Asp) n.615G>C c.-443G>C (n.-443G>C)
4	g.1001520G>T	CA355961741	IDUA	c.546G>T (p.Glu182Asp) n.602G>T c.405G>T (p.Glu135Asp) c.506G>T c.339G>T (p.Glu113Asp) c.363G>T (p.Glu121Asp) c.150G>T (p.Glu50Asp) n.446G>T n.634G>T c.258G>T (p.Glu86Asp) n.615G>T c.-443G>T (n.-443G>T)
4	g.1001521C>A	CA355961742	IDUA	c.547C>A (p.Pro183Thr) n.603C>A c.406C>A (p.Pro136Thr) c.507C>A c.340C>A (p.Pro114Thr) c.364C>A (p.Pro122Thr) c.151C>A (p.Pro51Thr) n.447C>A n.635C>A c.259C>A (p.Pro87Thr) n.616C>A c.-442C>A (n.-442C>A)
4	g.1001521C=	CA1433067392	IDUA	c.547C= (p.Pro183=) n.603C= c.406C= (p.Pro136=) c.507C= c.340C= (p.Pro114=) c.364C= (p.Pro122=) c.151C= (p.Pro51=) n.447C= n.635C= c.259C= (p.Pro87=) n.616C= c.-442C= (n.-442C=)
4	g.1001521C>G	CA355961743	IDUA	c.547C>G (p.Pro183Ala) n.603C>G c.406C>G (p.Pro136Ala) c.507C>G c.340C>G (p.Pro114Ala) c.364C>G (p.Pro122Ala) c.151C>G (p.Pro51Ala) n.447C>G n.635C>G c.259C>G (p.Pro87Ala) n.616C>G c.-442C>G (n.-442C>G)	ClinVar
4	g.1001521C>T	CA2801989	IDUA	c.547C>T (p.Pro183Ser) n.603C>T c.406C>T (p.Pro136Ser) c.507C>T c.340C>T (p.Pro114Ser) c.364C>T (p.Pro122Ser) c.151C>T (p.Pro51Ser) n.447C>T n.635C>T c.259C>T (p.Pro87Ser) n.616C>T c.-442C>T (n.-442C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001522C>A	CA355961744	IDUA	c.548C>A (p.Pro183Gln) n.604C>A c.407C>A (p.Pro136Gln) c.508C>A c.341C>A (p.Pro114Gln) c.365C>A (p.Pro122Gln) c.152C>A (p.Pro51Gln) n.448C>A n.636C>A c.260C>A (p.Pro87Gln) n.617C>A c.-441C>A (n.-441C>A)
4	g.1001522C=	CA1433067398	IDUA	c.548C= (p.Pro183=) n.604C= c.407C= (p.Pro136=) c.508C= c.341C= (p.Pro114=) c.365C= (p.Pro122=) c.152C= (p.Pro51=) n.448C= n.636C= c.260C= (p.Pro87=) n.617C= c.-441C= (n.-441C=)
4	g.1001522C>G	CA355961745	IDUA	c.548C>G (p.Pro183Arg) n.604C>G c.407C>G (p.Pro136Arg) c.508C>G c.341C>G (p.Pro114Arg) c.365C>G (p.Pro122Arg) c.152C>G (p.Pro51Arg) n.448C>G n.636C>G c.260C>G (p.Pro87Arg) n.617C>G c.-441C>G (n.-441C>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.1001522C>T	CA355961746	IDUA	c.548C>T (p.Pro183Leu) n.604C>T c.407C>T (p.Pro136Leu) c.508C>T c.341C>T (p.Pro114Leu) c.365C>T (p.Pro122Leu) c.152C>T (p.Pro51Leu) n.448C>T n.636C>T c.260C>T (p.Pro87Leu) n.617C>T c.-441C>T (n.-441C>T)	gnomAD v4
4	g.1001523A>C	CA437918918	IDUA	c.549A>C (p.Pro183=) n.605A>C c.408A>C (p.Pro136=) c.509A>C c.342A>C (p.Pro114=) c.366A>C (p.Pro122=) c.153A>C (p.Pro51=) n.449A>C n.637A>C c.261A>C (p.Pro87=) n.618A>C c.-440A>C (n.-440A>C)
4	g.1001523A>G	CA437918919	IDUA	c.549A>G (p.Pro183=) n.605A>G c.408A>G (p.Pro136=) c.509A>G c.342A>G (p.Pro114=) c.366A>G (p.Pro122=) c.153A>G (p.Pro51=) n.449A>G n.637A>G c.261A>G (p.Pro87=) n.618A>G c.-440A>G (n.-440A>G)	ClinVar gnomAD v4
4	g.1001523A>T	CA437918920	IDUA	c.549A>T (p.Pro183=) n.605A>T c.408A>T (p.Pro136=) c.509A>T c.342A>T (p.Pro114=) c.366A>T (p.Pro122=) c.153A>T (p.Pro51=) n.449A>T n.637A>T c.261A>T (p.Pro87=) n.618A>T c.-440A>T (n.-440A>T)
4	g.1001524G>A	CA355961747	IDUA	c.550G>A (p.Asp184Asn) n.606G>A c.409G>A (p.Asp137Asn) c.510G>A c.343G>A (p.Asp115Asn) c.367G>A (p.Asp123Asn) c.154G>A (p.Asp52Asn) n.450G>A n.638G>A c.262G>A (p.Asp88Asn) n.619G>A c.-439G>A (n.-439G>A)
4	g.1001524G>C	CA355961748	IDUA	c.550G>C (p.Asp184His) n.606G>C c.409G>C (p.Asp137His) c.510G>C c.343G>C (p.Asp115His) c.367G>C (p.Asp123His) c.154G>C (p.Asp52His) n.450G>C n.638G>C c.262G>C (p.Asp88His) n.619G>C c.-439G>C (n.-439G>C)
4	g.1001524G=	CA1433067401	IDUA	c.550G= (p.Asp184=) n.606G= c.409G= (p.Asp137=) c.510G= c.343G= (p.Asp115=) c.367G= (p.Asp123=) c.154G= (p.Asp52=) n.450G= n.638G= c.262G= (p.Asp88=) n.619G= c.-439G= (n.-439G=)
4	g.1001524G>T	CA355961749	IDUA	c.550G>T (p.Asp184Tyr) n.606G>T c.409G>T (p.Asp137Tyr) c.510G>T c.343G>T (p.Asp115Tyr) c.367G>T (p.Asp123Tyr) c.154G>T (p.Asp52Tyr) n.450G>T n.638G>T c.262G>T (p.Asp88Tyr) n.619G>T c.-439G>T (n.-439G>T)	ClinVar dbSNP
4	g.1001525A>C	CA355961752	IDUA	c.551A>C (p.Asp184Ala) n.607A>C c.410A>C (p.Asp137Ala) c.511A>C c.344A>C (p.Asp115Ala) c.368A>C (p.Asp123Ala) c.155A>C (p.Asp52Ala) n.451A>C n.639A>C c.263A>C (p.Asp88Ala) n.620A>C c.-438A>C (n.-438A>C)
4	g.1001525A>G	CA355961750	IDUA	c.551A>G (p.Asp184Gly) n.607A>G c.410A>G (p.Asp137Gly) c.511A>G c.344A>G (p.Asp115Gly) c.368A>G (p.Asp123Gly) c.155A>G (p.Asp52Gly) n.451A>G n.639A>G c.263A>G (p.Asp88Gly) n.620A>G c.-438A>G (n.-438A>G)	ClinVar
4	g.1001525A>T	CA355961751	IDUA	c.551A>T (p.Asp184Val) n.607A>T c.410A>T (p.Asp137Val) c.511A>T c.344A>T (p.Asp115Val) c.368A>T (p.Asp123Val) c.155A>T (p.Asp52Val) n.451A>T n.639A>T c.263A>T (p.Asp88Val) n.620A>T c.-438A>T (n.-438A>T)
4	g.1001530_1001532del	CA2578014040	IDUA	c.556_558del (p.His186del) n.612_614del c.415_417del (p.His139del) c.516_518del c.349_351del (p.His117del) c.373_375del (p.His125del) c.160_162del (p.His54del) n.456_458del n.644_646del c.268_270del (p.His90del) n.625_627del c.-433_-431del (n.-433_-431del)	gnomAD v4
4	g.1001526C>A	CA355961753	IDUA	c.552C>A (p.Asp184Glu) n.608C>A c.411C>A (p.Asp137Glu) c.512C>A c.345C>A (p.Asp115Glu) c.369C>A (p.Asp123Glu) c.156C>A (p.Asp52Glu) n.452C>A n.640C>A c.264C>A (p.Asp88Glu) n.621C>A c.-437C>A (n.-437C>A)	dbSNP
4	g.1001526C=	CA1433067404	IDUA	c.552C= (p.Asp184=) n.608C= c.411C= (p.Asp137=) c.512C= c.345C= (p.Asp115=) c.369C= (p.Asp123=) c.156C= (p.Asp52=) n.452C= n.640C= c.264C= (p.Asp88=) n.621C= c.-437C= (n.-437C=)
4	g.1001526C>G	CA355961754	IDUA	c.552C>G (p.Asp184Glu) n.608C>G c.411C>G (p.Asp137Glu) c.512C>G c.345C>G (p.Asp115Glu) c.369C>G (p.Asp123Glu) c.156C>G (p.Asp52Glu) n.452C>G n.640C>G c.264C>G (p.Asp88Glu) n.621C>G c.-437C>G (n.-437C>G)
4	g.1001526C>T	CA2801990	IDUA	c.552C>T (p.Asp184=) n.608C>T c.411C>T (p.Asp137=) c.512C>T c.345C>T (p.Asp115=) c.369C>T (p.Asp123=) c.156C>T (p.Asp52=) n.452C>T n.640C>T c.264C>T (p.Asp88=) n.621C>T c.-437C>T (n.-437C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001527C>A	CA355961755	IDUA	c.553C>A (p.His185Asn) n.609C>A c.412C>A (p.His138Asn) c.513C>A c.346C>A (p.His116Asn) c.370C>A (p.His124Asn) c.157C>A (p.His53Asn) n.453C>A n.641C>A c.265C>A (p.His89Asn) n.622C>A c.-436C>A (n.-436C>A)
4	g.1001527C=	CA1433067409	IDUA	c.553C= (p.His185=) n.609C= c.412C= (p.His138=) c.513C= c.346C= (p.His116=) c.370C= (p.His124=) c.157C= (p.His53=) n.453C= n.641C= c.265C= (p.His89=) n.622C= c.-436C= (n.-436C=)
4	g.1001527C>G	CA2801991	IDUA	c.553C>G (p.His185Asp) n.609C>G c.412C>G (p.His138Asp) c.513C>G c.346C>G (p.His116Asp) c.370C>G (p.His124Asp) c.157C>G (p.His53Asp) n.453C>G n.641C>G c.265C>G (p.His89Asp) n.622C>G c.-436C>G (n.-436C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001527C>T	CA355961756	IDUA	c.553C>T (p.His185Tyr) n.609C>T c.412C>T (p.His138Tyr) c.513C>T c.346C>T (p.His116Tyr) c.370C>T (p.His124Tyr) c.157C>T (p.His53Tyr) n.453C>T n.641C>T c.265C>T (p.His89Tyr) n.622C>T c.-436C>T (n.-436C>T)	dbSNP
4	g.1001528A=	CA1433067413	IDUA	c.554A= (p.His185=) n.610A= c.413A= (p.His138=) c.514A= c.347A= (p.His116=) c.371A= (p.His124=) c.158A= (p.His53=) n.454A= n.642A= c.266A= (p.His89=) n.623A= c.-435A= (n.-435A=)
4	g.1001528A>C	CA16618019	IDUA	c.554A>C (p.His185Pro) n.610A>C c.413A>C (p.His138Pro) c.514A>C c.347A>C (p.His116Pro) c.371A>C (p.His124Pro) c.158A>C (p.His53Pro) n.454A>C n.642A>C c.266A>C (p.His89Pro) n.623A>C c.-435A>C (n.-435A>C)	ClinVar dbSNP
4	g.1001528A>G	CA355961757	IDUA	c.554A>G (p.His185Arg) n.610A>G c.413A>G (p.His138Arg) c.514A>G c.347A>G (p.His116Arg) c.371A>G (p.His124Arg) c.158A>G (p.His53Arg) n.454A>G n.642A>G c.266A>G (p.His89Arg) n.623A>G c.-435A>G (n.-435A>G)	gnomAD v4
4	g.1001528A>T	CA355961758	IDUA	c.554A>T (p.His185Leu) n.610A>T c.413A>T (p.His138Leu) c.514A>T c.347A>T (p.His116Leu) c.371A>T (p.His124Leu) c.158A>T (p.His53Leu) n.454A>T n.642A>T c.266A>T (p.His89Leu) n.623A>T c.-435A>T (n.-435A>T)
4	g.1001529C>A	CA355961759	IDUA	c.555C>A (p.His185Gln) n.611C>A c.414C>A (p.His138Gln) c.515C>A c.348C>A (p.His116Gln) c.372C>A (p.His124Gln) c.159C>A (p.His53Gln) n.455C>A n.643C>A c.267C>A (p.His89Gln) n.624C>A c.-434C>A (n.-434C>A)
4	g.1001529C>G	CA355961760	IDUA	c.555C>G (p.His185Gln) n.611C>G c.414C>G (p.His138Gln) c.515C>G c.348C>G (p.His116Gln) c.372C>G (p.His124Gln) c.159C>G (p.His53Gln) n.455C>G n.643C>G c.267C>G (p.His89Gln) n.624C>G c.-434C>G (n.-434C>G)
4	g.1001529C>T	CA437918921	IDUA	c.555C>T (p.His185=) n.611C>T c.414C>T (p.His138=) c.515C>T c.348C>T (p.His116=) c.372C>T (p.His124=) c.159C>T (p.His53=) n.455C>T n.643C>T c.267C>T (p.His89=) n.624C>T c.-434C>T (n.-434C>T)
4	g.1001530C>A	CA355961762	IDUA	c.556C>A (p.His186Asn) n.612C>A c.415C>A (p.His139Asn) c.516C>A c.349C>A (p.His117Asn) c.373C>A (p.His125Asn) c.160C>A (p.His54Asn) n.456C>A n.644C>A c.268C>A (p.His90Asn) n.625C>A c.-433C>A (n.-433C>A)	dbSNP gnomAD v2
4	g.1001530C=	CA1433067418	IDUA	c.556C= (p.His186=) n.612C= c.415C= (p.His139=) c.516C= c.349C= (p.His117=) c.373C= (p.His125=) c.160C= (p.His54=) n.456C= n.644C= c.268C= (p.His90=) n.625C= c.-433C= (n.-433C=)
4	g.1001530C>G	CA355961763	IDUA	c.556C>G (p.His186Asp) n.612C>G c.415C>G (p.His139Asp) c.516C>G c.349C>G (p.His117Asp) c.373C>G (p.His125Asp) c.160C>G (p.His54Asp) n.456C>G n.644C>G c.268C>G (p.His90Asp) n.625C>G c.-433C>G (n.-433C>G)	dbSNP gnomAD v3 gnomAD v4
4	g.1001530C>T	CA355961761	IDUA	c.556C>T (p.His186Tyr) n.612C>T c.415C>T (p.His139Tyr) c.516C>T c.349C>T (p.His117Tyr) c.373C>T (p.His125Tyr) c.160C>T (p.His54Tyr) n.456C>T n.644C>T c.268C>T (p.His90Tyr) n.625C>T c.-433C>T (n.-433C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001531A=	CA1433067423	IDUA	c.557A= (p.His186=) n.613A= c.416A= (p.His139=) c.517A= c.350A= (p.His117=) c.374A= (p.His125=) c.161A= (p.His54=) n.457A= n.645A= c.269A= (p.His90=) n.626A= c.-432A= (n.-432A=)
4	g.1001531A>C	CA355961765	IDUA	c.557A>C (p.His186Pro) n.613A>C c.416A>C (p.His139Pro) c.517A>C c.350A>C (p.His117Pro) c.374A>C (p.His125Pro) c.161A>C (p.His54Pro) n.457A>C n.645A>C c.269A>C (p.His90Pro) n.626A>C c.-432A>C (n.-432A>C)
4	g.1001531A>G	CA2801992	IDUA	c.557A>G (p.His186Arg) n.613A>G c.416A>G (p.His139Arg) c.517A>G c.350A>G (p.His117Arg) c.374A>G (p.His125Arg) c.161A>G (p.His54Arg) n.457A>G n.645A>G c.269A>G (p.His90Arg) n.626A>G c.-432A>G (n.-432A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001531A>T	CA355961764	IDUA	c.557A>T (p.His186Leu) n.613A>T c.416A>T (p.His139Leu) c.517A>T c.350A>T (p.His117Leu) c.374A>T (p.His125Leu) c.161A>T (p.His54Leu) n.457A>T n.645A>T c.269A>T (p.His90Leu) n.626A>T c.-432A>T (n.-432A>T)
4	g.1001532C>A	CA355961766	IDUA	c.558C>A (p.His186Gln) n.614C>A c.417C>A (p.His139Gln) c.518C>A c.351C>A (p.His117Gln) c.375C>A (p.His125Gln) c.162C>A (p.His54Gln) n.458C>A n.646C>A c.270C>A (p.His90Gln) n.627C>A c.-431C>A (n.-431C>A)	gnomAD v4
4	g.1001532C=	CA1433067430	IDUA	c.558C= (p.His186=) n.614C= c.417C= (p.His139=) c.518C= c.351C= (p.His117=) c.375C= (p.His125=) c.162C= (p.His54=) n.458C= n.646C= c.270C= (p.His90=) n.627C= c.-431C= (n.-431C=)
4	g.1001532C>G	CA355961767	IDUA	c.558C>G (p.His186Gln) n.614C>G c.417C>G (p.His139Gln) c.518C>G c.351C>G (p.His117Gln) c.375C>G (p.His125Gln) c.162C>G (p.His54Gln) n.458C>G n.646C>G c.270C>G (p.His90Gln) n.627C>G c.-431C>G (n.-431C>G)
4	g.1001532C>T	CA437918922	IDUA	c.558C>T (p.His186=) n.614C>T c.417C>T (p.His139=) c.518C>T c.351C>T (p.His117=) c.375C>T (p.His125=) c.162C>T (p.His54=) n.458C>T n.646C>T c.270C>T (p.His90=) n.627C>T c.-431C>T (n.-431C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.1001533G>A	CA355961768	IDUA	c.559G>A (p.Asp187Asn) n.615G>A c.418G>A (p.Asp140Asn) c.519G>A c.352G>A (p.Asp118Asn) c.376G>A (p.Asp126Asn) c.163G>A (p.Asp55Asn) n.459G>A n.647G>A c.271G>A (p.Asp91Asn) n.628G>A c.-430G>A (n.-430G>A)
4	g.1001533G>C	CA355961769	IDUA	c.559G>C (p.Asp187His) n.615G>C c.418G>C (p.Asp140His) c.519G>C c.352G>C (p.Asp118His) c.376G>C (p.Asp126His) c.163G>C (p.Asp55His) n.459G>C n.647G>C c.271G>C (p.Asp91His) n.628G>C c.-430G>C (n.-430G>C)	gnomAD v4
4	g.1001533G>T	CA355961770	IDUA	c.559G>T (p.Asp187Tyr) n.615G>T c.418G>T (p.Asp140Tyr) c.519G>T c.352G>T (p.Asp118Tyr) c.376G>T (p.Asp126Tyr) c.163G>T (p.Asp55Tyr) n.459G>T n.647G>T c.271G>T (p.Asp91Tyr) n.628G>T c.-430G>T (n.-430G>T)
4	g.1001534A>C	CA355961771	IDUA	c.560A>C (p.Asp187Ala) n.616A>C c.419A>C (p.Asp140Ala) c.520A>C c.353A>C (p.Asp118Ala) c.377A>C (p.Asp126Ala) c.164A>C (p.Asp55Ala) n.460A>C n.648A>C c.272A>C (p.Asp91Ala) n.629A>C c.-429A>C (n.-429A>C)
4	g.1001534A>G	CA355961772	IDUA	c.560A>G (p.Asp187Gly) n.616A>G c.419A>G (p.Asp140Gly) c.520A>G c.353A>G (p.Asp118Gly) c.377A>G (p.Asp126Gly) c.164A>G (p.Asp55Gly) n.460A>G n.648A>G c.272A>G (p.Asp91Gly) n.629A>G c.-429A>G (n.-429A>G)	gnomAD v4
4	g.1001534A>T	CA355961773	IDUA	c.560A>T (p.Asp187Val) n.616A>T c.419A>T (p.Asp140Val) c.520A>T c.353A>T (p.Asp118Val) c.377A>T (p.Asp126Val) c.164A>T (p.Asp55Val) n.460A>T n.648A>T c.272A>T (p.Asp91Val) n.629A>T c.-429A>T (n.-429A>T)
4	g.1001535C>A	CA355961775	IDUA	c.561C>A (p.Asp187Glu) n.617C>A c.420C>A (p.Asp140Glu) c.521C>A c.354C>A (p.Asp118Glu) c.378C>A (p.Asp126Glu) c.165C>A (p.Asp55Glu) n.461C>A n.649C>A c.273C>A (p.Asp91Glu) n.630C>A c.-428C>A (n.-428C>A)
4	g.1001535C=	CA1433067436	IDUA	c.561C= (p.Asp187=) n.617C= c.420C= (p.Asp140=) c.521C= c.354C= (p.Asp118=) c.378C= (p.Asp126=) c.165C= (p.Asp55=) n.461C= n.649C= c.273C= (p.Asp91=) n.630C= c.-428C= (n.-428C=)
4	g.1001535C>G	CA355961774	IDUA	c.561C>G (p.Asp187Glu) n.617C>G c.420C>G (p.Asp140Glu) c.521C>G c.354C>G (p.Asp118Glu) c.378C>G (p.Asp126Glu) c.165C>G (p.Asp55Glu) n.461C>G n.649C>G c.273C>G (p.Asp91Glu) n.630C>G c.-428C>G (n.-428C>G)
4	g.1001535C>T	CA2801993	IDUA	c.561C>T (p.Asp187=) n.617C>T c.420C>T (p.Asp140=) c.521C>T c.354C>T (p.Asp118=) c.378C>T (p.Asp126=) c.165C>T (p.Asp55=) n.461C>T n.649C>T c.273C>T (p.Asp91=) n.630C>T c.-428C>T (n.-428C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001536T>A	CA355961776	IDUA	c.562T>A (p.Phe188Ile) n.618T>A c.421T>A (p.Phe141Ile) c.522T>A c.355T>A (p.Phe119Ile) c.379T>A (p.Phe127Ile) c.166T>A (p.Phe56Ile) n.462T>A n.650T>A c.274T>A (p.Phe92Ile) n.631T>A c.-427T>A (n.-427T>A)
4	g.1001536T>C	CA355961777	IDUA	c.562T>C (p.Phe188Leu) n.618T>C c.421T>C (p.Phe141Leu) c.522T>C c.355T>C (p.Phe119Leu) c.379T>C (p.Phe127Leu) c.166T>C (p.Phe56Leu) n.462T>C n.650T>C c.274T>C (p.Phe92Leu) n.631T>C c.-427T>C (n.-427T>C)
4	g.1001536T>G	CA355961778	IDUA	c.562T>G (p.Phe188Val) n.618T>G c.421T>G (p.Phe141Val) c.522T>G c.355T>G (p.Phe119Val) c.379T>G (p.Phe127Val) c.166T>G (p.Phe56Val) n.462T>G n.650T>G c.274T>G (p.Phe92Val) n.631T>G c.-427T>G (n.-427T>G)
4	g.1001537T>A	CA355961779	IDUA	c.563T>A (p.Phe188Tyr) n.619T>A c.422T>A (p.Phe141Tyr) c.523T>A c.356T>A (p.Phe119Tyr) c.380T>A (p.Phe127Tyr) c.167T>A (p.Phe56Tyr) n.463T>A n.651T>A c.275T>A (p.Phe92Tyr) n.632T>A c.-426T>A (n.-426T>A)
4	g.1001537T>C	CA355961780	IDUA	c.563T>C (p.Phe188Ser) n.619T>C c.422T>C (p.Phe141Ser) c.523T>C c.356T>C (p.Phe119Ser) c.380T>C (p.Phe127Ser) c.167T>C (p.Phe56Ser) n.463T>C n.651T>C c.275T>C (p.Phe92Ser) n.632T>C c.-426T>C (n.-426T>C)
4	g.1001537T>G	CA355961781	IDUA	c.563T>G (p.Phe188Cys) n.619T>G c.422T>G (p.Phe141Cys) c.523T>G c.356T>G (p.Phe119Cys) c.380T>G (p.Phe127Cys) c.167T>G (p.Phe56Cys) n.463T>G n.651T>G c.275T>G (p.Phe92Cys) n.632T>G c.-426T>G (n.-426T>G)	dbSNP
4	g.1001537T=	CA1433067440	IDUA	c.563T= (p.Phe188=) n.619T= c.422T= (p.Phe141=) c.523T= c.356T= (p.Phe119=) c.380T= (p.Phe127=) c.167T= (p.Phe56=) n.463T= n.651T= c.275T= (p.Phe92=) n.632T= c.-426T= (n.-426T=)
4	g.1001537_1001551delinsTTGACAACGTCTCCA	CA1433067439	IDUA	c.563_577delinsTTGACAACGTCTCCA (p.Phe188=) n.619_633delinsTTGACAACGTCTCCA c.422_436delinsTTGACAACGTCTCCA (p.Phe141=) c.523_537delinsTTGACAACGTCTCCA c.356_370delinsTTGACAACGTCTCCA (p.Phe119=) c.380_394delinsTTGACAACGTCTCCA (p.Phe127=) c.167_181delinsTTGACAACGTCTCCA (p.Phe56=) n.463_477delinsTTGACAACGTCTCCA n.651_665delinsTTGACAACGTCTCCA c.275_289delinsTTGACAACGTCTCCA (p.Phe92=) n.632_646delinsTTGACAACGTCTCCA c.-426_-412delinsTTGACAACGTCTCCA (n.-426_-412delinsTTGACAACGTCTCCA)
4	g.1001538T>A	CA355961782	IDUA	c.564T>A (p.Phe188Leu) n.620T>A c.423T>A (p.Phe141Leu) c.524T>A c.357T>A (p.Phe119Leu) c.381T>A (p.Phe127Leu) c.168T>A (p.Phe56Leu) n.464T>A n.652T>A c.276T>A (p.Phe92Leu) n.633T>A c.-425T>A (n.-425T>A)
4	g.1001538T>C	CA437918923	IDUA	c.564T>C (p.Phe188=) n.620T>C c.423T>C (p.Phe141=) c.524T>C c.357T>C (p.Phe119=) c.381T>C (p.Phe127=) c.168T>C (p.Phe56=) n.464T>C n.652T>C c.276T>C (p.Phe92=) n.633T>C c.-425T>C (n.-425T>C)
4	g.1001538T>G	CA355961783	IDUA	c.564T>G (p.Phe188Leu) n.620T>G c.423T>G (p.Phe141Leu) c.524T>G c.357T>G (p.Phe119Leu) c.381T>G (p.Phe127Leu) c.168T>G (p.Phe56Leu) n.464T>G n.652T>G c.276T>G (p.Phe92Leu) n.633T>G c.-425T>G (n.-425T>G)
4	g.1001542_1001555del	CA2801994	IDUA	c.568_581del (p.Asn190HisfsTer?) n.624_637del c.427_440del (p.Asn143HisfsTer?) c.528_541del c.361_374del (p.Asn121HisfsTer?) c.385_398del (p.Asn129HisfsTer?) c.172_185del (p.Asn58HisfsTer?) n.468_481del n.656_669del c.280_293del (p.Asn94HisfsTer?) n.637_650del c.-421_-408del (n.-421_-408del)	dbSNP ExAC gnomAD v2 gnomAD v4
4	g.1001539G>A	CA355961784	IDUA	c.565G>A (p.Asp189Asn) n.621G>A c.424G>A (p.Asp142Asn) c.525G>A c.358G>A (p.Asp120Asn) c.382G>A (p.Asp128Asn) c.169G>A (p.Asp57Asn) n.465G>A n.653G>A c.277G>A (p.Asp93Asn) n.634G>A c.-424G>A (n.-424G>A)
4	g.1001539G>C	CA355961785	IDUA	c.565G>C (p.Asp189His) n.621G>C c.424G>C (p.Asp142His) c.525G>C c.358G>C (p.Asp120His) c.382G>C (p.Asp128His) c.169G>C (p.Asp57His) n.465G>C n.653G>C c.277G>C (p.Asp93His) n.634G>C c.-424G>C (n.-424G>C)	COSMIC COSMIC
4	g.1001539G>T	CA355961786	IDUA	c.565G>T (p.Asp189Tyr) n.621G>T c.424G>T (p.Asp142Tyr) c.525G>T c.358G>T (p.Asp120Tyr) c.382G>T (p.Asp128Tyr) c.169G>T (p.Asp57Tyr) n.465G>T n.653G>T c.277G>T (p.Asp93Tyr) n.634G>T c.-424G>T (n.-424G>T)	gnomAD v4
4	g.1001540A>C	CA355961788	IDUA	c.566A>C (p.Asp189Ala) n.622A>C c.425A>C (p.Asp142Ala) c.526A>C c.359A>C (p.Asp120Ala) c.383A>C (p.Asp128Ala) c.170A>C (p.Asp57Ala) n.466A>C n.654A>C c.278A>C (p.Asp93Ala) n.635A>C c.-423A>C (n.-423A>C)
4	g.1001540A>G	CA355961789	IDUA	c.566A>G (p.Asp189Gly) n.622A>G c.425A>G (p.Asp142Gly) c.526A>G c.359A>G (p.Asp120Gly) c.383A>G (p.Asp128Gly) c.170A>G (p.Asp57Gly) n.466A>G n.654A>G c.278A>G (p.Asp93Gly) n.635A>G c.-423A>G (n.-423A>G)
4	g.1001540A>T	CA355961787	IDUA	c.566A>T (p.Asp189Val) n.622A>T c.425A>T (p.Asp142Val) c.526A>T c.359A>T (p.Asp120Val) c.383A>T (p.Asp128Val) c.170A>T (p.Asp57Val) n.466A>T n.654A>T c.278A>T (p.Asp93Val) n.635A>T c.-423A>T (n.-423A>T)
4	g.1001541C>A	CA355961790	IDUA	c.567C>A (p.Asp189Glu) n.623C>A c.426C>A (p.Asp142Glu) c.527C>A c.360C>A (p.Asp120Glu) c.384C>A (p.Asp128Glu) c.171C>A (p.Asp57Glu) n.467C>A n.655C>A c.279C>A (p.Asp93Glu) n.636C>A c.-422C>A (n.-422C>A)
4	g.1001541C>G	CA355961791	IDUA	c.567C>G (p.Asp189Glu) n.623C>G c.426C>G (p.Asp142Glu) c.527C>G c.360C>G (p.Asp120Glu) c.384C>G (p.Asp128Glu) c.171C>G (p.Asp57Glu) n.467C>G n.655C>G c.279C>G (p.Asp93Glu) n.636C>G c.-422C>G (n.-422C>G)
4	g.1001541C>T	CA437918924	IDUA	c.567C>T (p.Asp189=) n.623C>T c.426C>T (p.Asp142=) c.527C>T c.360C>T (p.Asp120=) c.384C>T (p.Asp128=) c.171C>T (p.Asp57=) n.467C>T n.655C>T c.279C>T (p.Asp93=) n.636C>T c.-422C>T (n.-422C>T)	ClinVar
4	g.1001542A>C	CA355961792	IDUA	c.568A>C (p.Asn190His) n.624A>C c.427A>C (p.Asn143His) c.528A>C c.361A>C (p.Asn121His) c.385A>C (p.Asn129His) c.172A>C (p.Asn58His) n.468A>C n.656A>C c.280A>C (p.Asn94His) n.637A>C c.-421A>C (n.-421A>C)
4	g.1001542A>G	CA355961793	IDUA	c.568A>G (p.Asn190Asp) n.624A>G c.427A>G (p.Asn143Asp) c.528A>G c.361A>G (p.Asn121Asp) c.385A>G (p.Asn129Asp) c.172A>G (p.Asn58Asp) n.468A>G n.656A>G c.280A>G (p.Asn94Asp) n.637A>G c.-421A>G (n.-421A>G)
4	g.1001542A>T	CA355961794	IDUA	c.568A>T (p.Asn190Tyr) n.624A>T c.427A>T (p.Asn143Tyr) c.528A>T c.361A>T (p.Asn121Tyr) c.385A>T (p.Asn129Tyr) c.172A>T (p.Asn58Tyr) n.468A>T n.656A>T c.280A>T (p.Asn94Tyr) n.637A>T c.-421A>T (n.-421A>T)	gnomAD v4
4	g.1001543A=	CA1433067445	IDUA	c.569A= (p.Asn190=) n.625A= c.428A= (p.Asn143=) c.529A= c.362A= (p.Asn121=) c.386A= (p.Asn129=) c.173A= (p.Asn58=) n.469A= n.657A= c.281A= (p.Asn94=) n.638A= c.-420A= (n.-420A=)
4	g.1001543A>C	CA355961796	IDUA	c.569A>C (p.Asn190Thr) n.625A>C c.428A>C (p.Asn143Thr) c.529A>C c.362A>C (p.Asn121Thr) c.386A>C (p.Asn129Thr) c.173A>C (p.Asn58Thr) n.469A>C n.657A>C c.281A>C (p.Asn94Thr) n.638A>C c.-420A>C (n.-420A>C)
4	g.1001543A>G	CA91167270	IDUA	c.569A>G (p.Asn190Ser) n.625A>G c.428A>G (p.Asn143Ser) c.529A>G c.362A>G (p.Asn121Ser) c.386A>G (p.Asn129Ser) c.173A>G (p.Asn58Ser) n.469A>G n.657A>G c.281A>G (p.Asn94Ser) n.638A>G c.-420A>G (n.-420A>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001543A>T	CA355961795	IDUA	c.569A>T (p.Asn190Ile) n.625A>T c.428A>T (p.Asn143Ile) c.529A>T c.362A>T (p.Asn121Ile) c.386A>T (p.Asn129Ile) c.173A>T (p.Asn58Ile) n.469A>T n.657A>T c.281A>T (p.Asn94Ile) n.638A>T c.-420A>T (n.-420A>T)
4	g.1001543_1001544delinsAC	CA1433067447	IDUA	c.569_570delinsAC (p.Asn190=) n.625_626delinsAC c.428_429delinsAC (p.Asn143=) c.529_530delinsAC c.362_363delinsAC (p.Asn121=) c.386_387delinsAC (p.Asn129=) c.173_174delinsAC (p.Asn58=) n.469_470delinsAC n.657_658delinsAC c.281_282delinsAC (p.Asn94=) n.638_639delinsAC c.-420_-419delinsAC (n.-420_-419delinsAC)
4	g.1001544del	CA549153569	IDUA	c.570del (p.Asn190LysfsTer4) n.626del c.429del (p.Asn143LysfsTer4) c.530del c.363del (p.Asn121LysfsTer4) c.387del (p.Asn129LysfsTer4) c.174del (p.Asn58LysfsTer4) n.470del n.658del c.282del (p.Asn94LysfsTer4) n.639del c.-419del (n.-419del)	ClinVar dbSNP gnomAD v2 gnomAD v4
4	g.1001544C>A	CA355961797	IDUA	c.570C>A (p.Asn190Lys) n.626C>A c.429C>A (p.Asn143Lys) c.530C>A c.363C>A (p.Asn121Lys) c.387C>A (p.Asn129Lys) c.174C>A (p.Asn58Lys) n.470C>A n.658C>A c.282C>A (p.Asn94Lys) n.639C>A c.-419C>A (n.-419C>A)
4	g.1001544C=	CA1433067449	IDUA	c.570C= (p.Asn190=) n.626C= c.429C= (p.Asn143=) c.530C= c.363C= (p.Asn121=) c.387C= (p.Asn129=) c.174C= (p.Asn58=) n.470C= n.658C= c.282C= (p.Asn94=) n.639C= c.-419C= (n.-419C=)
4	g.1001544C>G	CA355961798	IDUA	c.570C>G (p.Asn190Lys) n.626C>G c.429C>G (p.Asn143Lys) c.530C>G c.363C>G (p.Asn121Lys) c.387C>G (p.Asn129Lys) c.174C>G (p.Asn58Lys) n.470C>G n.658C>G c.282C>G (p.Asn94Lys) n.639C>G c.-419C>G (n.-419C>G)
4	g.1001544C>T	CA437918925	IDUA	c.570C>T (p.Asn190=) n.626C>T c.429C>T (p.Asn143=) c.530C>T c.363C>T (p.Asn121=) c.387C>T (p.Asn129=) c.174C>T (p.Asn58=) n.470C>T n.658C>T c.282C>T (p.Asn94=) n.639C>T c.-419C>T (n.-419C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
4	g.1001545G>A	CA355961799	IDUA	c.571G>A (p.Val191Ile) n.627G>A c.430G>A (p.Val144Ile) c.531G>A c.364G>A (p.Val122Ile) c.388G>A (p.Val130Ile) c.175G>A (p.Val59Ile) n.471G>A n.659G>A c.283G>A (p.Val95Ile) n.640G>A c.-418G>A (n.-418G>A)	dbSNP gnomAD v2 gnomAD v4
4	g.1001545G>C	CA2801995	IDUA	c.571G>C (p.Val191Leu) n.627G>C c.430G>C (p.Val144Leu) c.531G>C c.364G>C (p.Val122Leu) c.388G>C (p.Val130Leu) c.175G>C (p.Val59Leu) n.471G>C n.659G>C c.283G>C (p.Val95Leu) n.640G>C c.-418G>C (n.-418G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001545G=	CA1433067452	IDUA	c.571G= (p.Val191=) n.627G= c.430G= (p.Val144=) c.531G= c.364G= (p.Val122=) c.388G= (p.Val130=) c.175G= (p.Val59=) n.471G= n.659G= c.283G= (p.Val95=) n.640G= c.-418G= (n.-418G=)
4	g.1001545G>T	CA355961800	IDUA	c.571G>T (p.Val191Phe) n.627G>T c.430G>T (p.Val144Phe) c.531G>T c.364G>T (p.Val122Phe) c.388G>T (p.Val130Phe) c.175G>T (p.Val59Phe) n.471G>T n.659G>T c.283G>T (p.Val95Phe) n.640G>T c.-418G>T (n.-418G>T)
4	g.1001546T>A	CA355961801	IDUA	c.572T>A (p.Val191Asp) n.628T>A c.431T>A (p.Val144Asp) c.532T>A c.365T>A (p.Val122Asp) c.389T>A (p.Val130Asp) c.176T>A (p.Val59Asp) n.472T>A n.660T>A c.284T>A (p.Val95Asp) n.641T>A c.-417T>A (n.-417T>A)	gnomAD v4
4	g.1001546T>C	CA355961803	IDUA	c.572T>C (p.Val191Ala) n.628T>C c.431T>C (p.Val144Ala) c.532T>C c.365T>C (p.Val122Ala) c.389T>C (p.Val130Ala) c.176T>C (p.Val59Ala) n.472T>C n.660T>C c.284T>C (p.Val95Ala) n.641T>C c.-417T>C (n.-417T>C)
4	g.1001546T>G	CA355961802	IDUA	c.572T>G (p.Val191Gly) n.628T>G c.431T>G (p.Val144Gly) c.532T>G c.365T>G (p.Val122Gly) c.389T>G (p.Val130Gly) c.176T>G (p.Val59Gly) n.472T>G n.660T>G c.284T>G (p.Val95Gly) n.641T>G c.-417T>G (n.-417T>G)
4	g.1001547C>A	CA437918926	IDUA	c.573C>A (p.Val191=) n.629C>A c.432C>A (p.Val144=) c.533C>A c.366C>A (p.Val122=) c.390C>A (p.Val130=) c.177C>A (p.Val59=) n.473C>A n.661C>A c.285C>A (p.Val95=) n.642C>A c.-416C>A (n.-416C>A)
4	g.1001547C=	CA1433067455	IDUA	c.573C= (p.Val191=) n.629C= c.432C= (p.Val144=) c.533C= c.366C= (p.Val122=) c.390C= (p.Val130=) c.177C= (p.Val59=) n.473C= n.661C= c.285C= (p.Val95=) n.642C= c.-416C= (n.-416C=)
4	g.1001547C>G	CA437918927	IDUA	c.573C>G (p.Val191=) n.629C>G c.432C>G (p.Val144=) c.533C>G c.366C>G (p.Val122=) c.390C>G (p.Val130=) c.177C>G (p.Val59=) n.473C>G n.661C>G c.285C>G (p.Val95=) n.642C>G c.-416C>G (n.-416C>G)	ClinVar dbSNP gnomAD v4
4	g.1001547C>T	CA437918928	IDUA	c.573C>T (p.Val191=) n.629C>T c.432C>T (p.Val144=) c.533C>T c.366C>T (p.Val122=) c.390C>T (p.Val130=) c.177C>T (p.Val59=) n.473C>T n.661C>T c.285C>T (p.Val95=) n.642C>T c.-416C>T (n.-416C>T)	ClinVar dbSNP gnomAD v4
4	g.1001548del	CA2586973521	IDUA	c.574del (p.Ser192ProfsTer2) n.630del c.433del (p.Ser145ProfsTer2) c.534del c.367del (p.Ser123ProfsTer2) c.391del (p.Ser131ProfsTer2) c.178del (p.Ser60ProfsTer2) n.474del n.662del c.286del (p.Ser96ProfsTer2) n.643del c.-415del (n.-415del)
4	g.1001548T>A	CA355961804	IDUA	c.574T>A (p.Ser192Thr) n.630T>A c.433T>A (p.Ser145Thr) c.534T>A c.367T>A (p.Ser123Thr) c.391T>A (p.Ser131Thr) c.178T>A (p.Ser60Thr) n.474T>A n.662T>A c.286T>A (p.Ser96Thr) n.643T>A c.-415T>A (n.-415T>A)
4	g.1001548T>C	CA355961805	IDUA	c.574T>C (p.Ser192Pro) n.630T>C c.433T>C (p.Ser145Pro) c.534T>C c.367T>C (p.Ser123Pro) c.391T>C (p.Ser131Pro) c.178T>C (p.Ser60Pro) n.474T>C n.662T>C c.286T>C (p.Ser96Pro) n.643T>C c.-415T>C (n.-415T>C)
4	g.1001548T>G	CA355961806	IDUA	c.574T>G (p.Ser192Ala) n.630T>G c.433T>G (p.Ser145Ala) c.534T>G c.367T>G (p.Ser123Ala) c.391T>G (p.Ser131Ala) c.178T>G (p.Ser60Ala) n.474T>G n.662T>G c.286T>G (p.Ser96Ala) n.643T>G c.-415T>G (n.-415T>G)
4	g.1001549C>A	CA355961807	IDUA	c.575C>A (p.Ser192Tyr) n.631C>A c.434C>A (p.Ser145Tyr) c.535C>A c.368C>A (p.Ser123Tyr) c.392C>A (p.Ser131Tyr) c.179C>A (p.Ser60Tyr) n.475C>A n.663C>A c.287C>A (p.Ser96Tyr) n.644C>A c.-414C>A (n.-414C>A)
4	g.1001549C=	CA1433067460	IDUA	c.575C= (p.Ser192=) n.631C= c.434C= (p.Ser145=) c.535C= c.368C= (p.Ser123=) c.392C= (p.Ser131=) c.179C= (p.Ser60=) n.475C= n.663C= c.287C= (p.Ser96=) n.644C= c.-414C= (n.-414C=)
4	g.1001549C>G	CA355961808	IDUA	c.575C>G (p.Ser192Cys) n.631C>G c.434C>G (p.Ser145Cys) c.535C>G c.368C>G (p.Ser123Cys) c.392C>G (p.Ser131Cys) c.179C>G (p.Ser60Cys) n.475C>G n.663C>G c.287C>G (p.Ser96Cys) n.644C>G c.-414C>G (n.-414C>G)	ClinVar dbSNP
4	g.1001549C>T	CA355961809	IDUA	c.575C>T (p.Ser192Phe) n.631C>T c.434C>T (p.Ser145Phe) c.535C>T c.368C>T (p.Ser123Phe) c.392C>T (p.Ser131Phe) c.179C>T (p.Ser60Phe) n.475C>T n.663C>T c.287C>T (p.Ser96Phe) n.644C>T c.-414C>T (n.-414C>T)
4	g.1001550dup	CA2586973522	IDUA	c.576dup (p.Met193HisfsTer?) n.632dup c.435dup (p.Met146HisfsTer?) c.536dup c.369dup (p.Met124HisfsTer?) c.393dup (p.Met132HisfsTer?) c.180dup (p.Met61HisfsTer?) n.476dup n.664dup c.288dup (p.Met97HisfsTer?) n.645dup c.-413dup (n.-413dup)	gnomAD v4
4	g.1001550del	CA2580070650	IDUA	c.576del (p.Met193Ter) n.632del c.435del (p.Met146Ter) c.536del c.369del (p.Met124Ter) c.393del (p.Met132Ter) c.180del (p.Met61Ter) n.476del n.664del c.288del (p.Met97Ter) n.645del c.-413del (n.-413del)	ClinVar
4	g.1001550C>A	CA437918929	IDUA	c.576C>A (p.Ser192=) n.632C>A c.435C>A (p.Ser145=) c.536C>A c.369C>A (p.Ser123=) c.393C>A (p.Ser131=) c.180C>A (p.Ser60=) n.476C>A n.664C>A c.288C>A (p.Ser96=) n.645C>A c.-413C>A (n.-413C>A)
4	g.1001550C>G	CA437918930	IDUA	c.576C>G (p.Ser192=) n.632C>G c.435C>G (p.Ser145=) c.536C>G c.369C>G (p.Ser123=) c.393C>G (p.Ser131=) c.180C>G (p.Ser60=) n.476C>G n.664C>G c.288C>G (p.Ser96=) n.645C>G c.-413C>G (n.-413C>G)
4	g.1001550C>T	CA437918931	IDUA	c.576C>T (p.Ser192=) n.632C>T c.435C>T (p.Ser145=) c.536C>T c.369C>T (p.Ser123=) c.393C>T (p.Ser131=) c.180C>T (p.Ser60=) n.476C>T n.664C>T c.288C>T (p.Ser96=) n.645C>T c.-413C>T (n.-413C>T)
4	g.1001551A>C	CA355961810	IDUA	c.577A>C (p.Met193Leu) n.633A>C c.436A>C (p.Met146Leu) c.537A>C c.370A>C (p.Met124Leu) c.394A>C (p.Met132Leu) c.181A>C (p.Met61Leu) n.477A>C n.665A>C c.289A>C (p.Met97Leu) n.646A>C c.-412A>C (n.-412A>C)	gnomAD v4
4	g.1001551A>G	CA355961811	IDUA	c.577A>G (p.Met193Val) n.633A>G c.436A>G (p.Met146Val) c.537A>G c.370A>G (p.Met124Val) c.394A>G (p.Met132Val) c.181A>G (p.Met61Val) n.477A>G n.665A>G c.289A>G (p.Met97Val) n.646A>G c.-412A>G (n.-412A>G)	gnomAD v4
4	g.1001551A>T	CA355961812	IDUA	c.577A>T (p.Met193Leu) n.633A>T c.436A>T (p.Met146Leu) c.537A>T c.370A>T (p.Met124Leu) c.394A>T (p.Met132Leu) c.181A>T (p.Met61Leu) n.477A>T n.665A>T c.289A>T (p.Met97Leu) n.646A>T c.-412A>T (n.-412A>T)
4	g.1001552del	CA2586973523	IDUA	c.578del (p.Met193ArgfsTer7) n.634del c.437del (p.Met146ArgfsTer7) c.538del c.371del (p.Met124ArgfsTer7) c.395del (p.Met132ArgfsTer7) c.182del (p.Met61ArgfsTer7) n.478del n.666del c.290del (p.Met97ArgfsTer7) n.647del c.-411del (n.-411del)
4	g.1001552T>A	CA91167282	IDUA	c.578T>A (p.Met193Lys) n.634T>A c.437T>A (p.Met146Lys) c.538T>A c.371T>A (p.Met124Lys) c.395T>A (p.Met132Lys) c.182T>A (p.Met61Lys) n.478T>A n.666T>A c.290T>A (p.Met97Lys) n.647T>A c.-411T>A (n.-411T>A)	dbSNP gnomAD v4
4	g.1001552T>C	CA355961813	IDUA	c.578T>C (p.Met193Thr) n.634T>C c.437T>C (p.Met146Thr) c.538T>C c.371T>C (p.Met124Thr) c.395T>C (p.Met132Thr) c.182T>C (p.Met61Thr) n.478T>C n.666T>C c.290T>C (p.Met97Thr) n.647T>C c.-411T>C (n.-411T>C)
4	g.1001552T>G	CA355961814	IDUA	c.578T>G (p.Met193Arg) n.634T>G c.437T>G (p.Met146Arg) c.538T>G c.371T>G (p.Met124Arg) c.395T>G (p.Met132Arg) c.182T>G (p.Met61Arg) n.478T>G n.666T>G c.290T>G (p.Met97Arg) n.647T>G c.-411T>G (n.-411T>G)
4	g.1001552T=	CA1433067462	IDUA	c.578T= (p.Met193=) n.634T= c.437T= (p.Met146=) c.538T= c.371T= (p.Met124=) c.395T= (p.Met132=) c.182T= (p.Met61=) n.478T= n.666T= c.290T= (p.Met97=) n.647T= c.-411T= (n.-411T=)
4	g.1001553G>A	CA355961816	IDUA	c.579G>A (p.Met193Ile) n.635G>A c.438G>A (p.Met146Ile) c.539G>A c.372G>A (p.Met124Ile) c.396G>A (p.Met132Ile) c.183G>A (p.Met61Ile) n.479G>A n.667G>A c.291G>A (p.Met97Ile) n.648G>A c.-410G>A (n.-410G>A)	ClinVar dbSNP gnomAD v4
4	g.1001553G>C	CA355961817	IDUA	c.579G>C (p.Met193Ile) n.635G>C c.438G>C (p.Met146Ile) c.539G>C c.372G>C (p.Met124Ile) c.396G>C (p.Met132Ile) c.183G>C (p.Met61Ile) n.479G>C n.667G>C c.291G>C (p.Met97Ile) n.648G>C c.-410G>C (n.-410G>C)
4	g.1001553G>T	CA355961815	IDUA	c.579G>T (p.Met193Ile) n.635G>T c.438G>T (p.Met146Ile) c.539G>T c.372G>T (p.Met124Ile) c.396G>T (p.Met132Ile) c.183G>T (p.Met61Ile) n.479G>T n.667G>T c.291G>T (p.Met97Ile) n.648G>T c.-410G>T (n.-410G>T)
4	g.1001554A=	CA1433067466	IDUA	c.580A= (p.Thr194=) n.636A= c.439A= (p.Thr147=) c.540A= c.373A= (p.Thr125=) c.397A= (p.Thr133=) c.184A= (p.Thr62=) n.480A= n.668A= c.292A= (p.Thr98=) n.649A= c.-409A= (n.-409A=)
4	g.1001554A>C	CA2801996	IDUA	c.580A>C (p.Thr194Pro) n.636A>C c.439A>C (p.Thr147Pro) c.540A>C c.373A>C (p.Thr125Pro) c.397A>C (p.Thr133Pro) c.184A>C (p.Thr62Pro) n.480A>C n.668A>C c.292A>C (p.Thr98Pro) n.649A>C c.-409A>C (n.-409A>C)	dbSNP ExAC gnomAD v2
4	g.1001554A>G	CA355961818	IDUA	c.580A>G (p.Thr194Ala) n.636A>G c.439A>G (p.Thr147Ala) c.540A>G c.373A>G (p.Thr125Ala) c.397A>G (p.Thr133Ala) c.184A>G (p.Thr62Ala) n.480A>G n.668A>G c.292A>G (p.Thr98Ala) n.649A>G c.-409A>G (n.-409A>G)	gnomAD v4
4	g.1001554A>T	CA355961819	IDUA	c.580A>T (p.Thr194Ser) n.636A>T c.439A>T (p.Thr147Ser) c.540A>T c.373A>T (p.Thr125Ser) c.397A>T (p.Thr133Ser) c.184A>T (p.Thr62Ser) n.480A>T n.668A>T c.292A>T (p.Thr98Ser) n.649A>T c.-409A>T (n.-409A>T)
4	g.1001555C>A	CA355961820	IDUA	c.581C>A (p.Thr194Asn) n.637C>A c.440C>A (p.Thr147Asn) c.541C>A c.374C>A (p.Thr125Asn) c.398C>A (p.Thr133Asn) c.185C>A (p.Thr62Asn) n.481C>A n.669C>A c.293C>A (p.Thr98Asn) n.650C>A c.-408C>A (n.-408C>A)
4	g.1001555C=	CA1433067472	IDUA	c.581C= (p.Thr194=) n.637C= c.440C= (p.Thr147=) c.541C= c.374C= (p.Thr125=) c.398C= (p.Thr133=) c.185C= (p.Thr62=) n.481C= n.669C= c.293C= (p.Thr98=) n.650C= c.-408C= (n.-408C=)
4	g.1001555C>G	CA2801997	IDUA	c.581C>G (p.Thr194Ser) n.637C>G c.440C>G (p.Thr147Ser) c.541C>G c.374C>G (p.Thr125Ser) c.398C>G (p.Thr133Ser) c.185C>G (p.Thr62Ser) n.481C>G n.669C>G c.293C>G (p.Thr98Ser) n.650C>G c.-408C>G (n.-408C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001555C>T	CA355961821	IDUA	c.581C>T (p.Thr194Ile) n.637C>T c.440C>T (p.Thr147Ile) c.541C>T c.374C>T (p.Thr125Ile) c.398C>T (p.Thr133Ile) c.185C>T (p.Thr62Ile) n.481C>T n.669C>T c.293C>T (p.Thr98Ile) n.650C>T c.-408C>T (n.-408C>T)
4	g.1001556C>A	CA437918932	IDUA	c.582C>A (p.Thr194=) n.638C>A c.441C>A (p.Thr147=) c.542C>A c.375C>A (p.Thr125=) c.399C>A (p.Thr133=) c.186C>A (p.Thr62=) n.482C>A n.670C>A c.294C>A (p.Thr98=) n.651C>A c.-407C>A (n.-407C>A)
4	g.1001556C>G	CA437918933	IDUA	c.582C>G (p.Thr194=) n.638C>G c.441C>G (p.Thr147=) c.542C>G c.375C>G (p.Thr125=) c.399C>G (p.Thr133=) c.186C>G (p.Thr62=) n.482C>G n.670C>G c.294C>G (p.Thr98=) n.651C>G c.-407C>G (n.-407C>G)
4	g.1001556C>T	CA437918934	IDUA	c.582C>T (p.Thr194=) n.638C>T c.441C>T (p.Thr147=) c.542C>T c.375C>T (p.Thr125=) c.399C>T (p.Thr133=) c.186C>T (p.Thr62=) n.482C>T n.670C>T c.294C>T (p.Thr98=) n.651C>T c.-407C>T (n.-407C>T)	gnomAD v4
4	g.1001557A=	CA1433067476	IDUA	c.583A= (p.Met195=) n.639A= c.442A= (p.Met148=) c.543A= c.376A= (p.Met126=) c.400A= (p.Met134=) c.187A= (p.Met63=) n.483A= n.671A= c.295A= (p.Met99=) n.652A= c.-406A= (n.-406A=)
4	g.1001557A>C	CA355961822	IDUA	c.583A>C (p.Met195Leu) n.639A>C c.442A>C (p.Met148Leu) c.543A>C c.376A>C (p.Met126Leu) c.400A>C (p.Met134Leu) c.187A>C (p.Met63Leu) n.483A>C n.671A>C c.295A>C (p.Met99Leu) n.652A>C c.-406A>C (n.-406A>C)
4	g.1001557A>G	CA355961823	IDUA	c.583A>G (p.Met195Val) n.639A>G c.442A>G (p.Met148Val) c.543A>G c.376A>G (p.Met126Val) c.400A>G (p.Met134Val) c.187A>G (p.Met63Val) n.483A>G n.671A>G c.295A>G (p.Met99Val) n.652A>G c.-406A>G (n.-406A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001557A>T	CA355961824	IDUA	c.583A>T (p.Met195Leu) n.639A>T c.442A>T (p.Met148Leu) c.543A>T c.376A>T (p.Met126Leu) c.400A>T (p.Met134Leu) c.187A>T (p.Met63Leu) n.483A>T n.671A>T c.295A>T (p.Met99Leu) n.652A>T c.-406A>T (n.-406A>T)
4	g.1001558T>A	CA355961825	IDUA	c.584T>A (p.Met195Lys) n.640T>A c.443T>A (p.Met148Lys) c.544T>A c.377T>A (p.Met126Lys) c.401T>A (p.Met134Lys) c.188T>A (p.Met63Lys) n.484T>A n.672T>A c.296T>A (p.Met99Lys) n.653T>A c.-405T>A (n.-405T>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001558T>C	CA355961826	IDUA	c.584T>C (p.Met195Thr) n.640T>C c.443T>C (p.Met148Thr) c.544T>C c.377T>C (p.Met126Thr) c.401T>C (p.Met134Thr) c.188T>C (p.Met63Thr) n.484T>C n.672T>C c.296T>C (p.Met99Thr) n.653T>C c.-405T>C (n.-405T>C)	gnomAD v4
4	g.1001558T>G	CA355961827	IDUA	c.584T>G (p.Met195Arg) n.640T>G c.443T>G (p.Met148Arg) c.544T>G c.377T>G (p.Met126Arg) c.401T>G (p.Met134Arg) c.188T>G (p.Met63Arg) n.484T>G n.672T>G c.296T>G (p.Met99Arg) n.653T>G c.-405T>G (n.-405T>G)
4	g.1001558T=	CA1433067479	IDUA	c.584T= (p.Met195=) n.640T= c.443T= (p.Met148=) c.544T= c.377T= (p.Met126=) c.401T= (p.Met134=) c.188T= (p.Met63=) n.484T= n.672T= c.296T= (p.Met99=) n.653T= c.-405T= (n.-405T=)
4	g.1001559G>A	CA355961828	IDUA	c.585G>A (p.Met195Ile) n.641G>A c.444G>A (p.Met148Ile) c.545G>A c.378G>A (p.Met126Ile) c.402G>A (p.Met134Ile) c.189G>A (p.Met63Ile) n.485G>A n.673G>A c.297G>A (p.Met99Ile) n.654G>A c.-404G>A (n.-404G>A)	dbSNP gnomAD v3 gnomAD v4
4	g.1001559G>C	CA355961829	IDUA	c.585G>C (p.Met195Ile) n.641G>C c.444G>C (p.Met148Ile) c.545G>C c.378G>C (p.Met126Ile) c.402G>C (p.Met134Ile) c.189G>C (p.Met63Ile) n.485G>C n.673G>C c.297G>C (p.Met99Ile) n.654G>C c.-404G>C (n.-404G>C)
4	g.1001559G=	CA1433067483	IDUA	c.585G= (p.Met195=) n.641G= c.444G= (p.Met148=) c.545G= c.378G= (p.Met126=) c.402G= (p.Met134=) c.189G= (p.Met63=) n.485G= n.673G= c.297G= (p.Met99=) n.654G= c.-404G= (n.-404G=)
4	g.1001559G>T	CA355961830	IDUA	c.585G>T (p.Met195Ile) n.641G>T c.444G>T (p.Met148Ile) c.545G>T c.378G>T (p.Met126Ile) c.402G>T (p.Met134Ile) c.189G>T (p.Met63Ile) n.485G>T n.673G>T c.297G>T (p.Met99Ile) n.654G>T c.-404G>T (n.-404G>T)	dbSNP gnomAD v2 gnomAD v4
4	g.1001559dup	CA2499217010	IDUA	c.585dup (p.Gln196AlafsTer?) n.641dup c.444dup (p.Gln149AlafsTer?) c.545dup c.378dup (p.Gln127AlafsTer?) c.402dup (p.Gln135AlafsTer?) c.189dup (p.Gln64AlafsTer?) n.485dup n.673dup c.297dup (p.Gln100AlafsTer?) n.654dup c.-404dup (n.-404dup)	ClinVar dbSNP
4	g.1001560C>A	CA355961833	IDUA	c.586C>A (p.Gln196Lys) n.642C>A c.445C>A (p.Gln149Lys) c.546C>A c.379C>A (p.Gln127Lys) c.403C>A (p.Gln135Lys) c.190C>A (p.Gln64Lys) n.486C>A n.674C>A c.298C>A (p.Gln100Lys) n.655C>A c.-403C>A (n.-403C>A)
4	g.1001560C>G	CA355961831	IDUA	c.586C>G (p.Gln196Glu) n.642C>G c.445C>G (p.Gln149Glu) c.546C>G c.379C>G (p.Gln127Glu) c.403C>G (p.Gln135Glu) c.190C>G (p.Gln64Glu) n.486C>G n.674C>G c.298C>G (p.Gln100Glu) n.655C>G c.-403C>G (n.-403C>G)
4	g.1001560C>T	CA355961832	IDUA	c.586C>T (p.Gln196Ter) n.642C>T c.445C>T (p.Gln149Ter) c.546C>T c.379C>T (p.Gln127Ter) c.403C>T (p.Gln135Ter) c.190C>T (p.Gln64Ter) n.486C>T n.674C>T c.298C>T (p.Gln100Ter) n.655C>T c.-403C>T (n.-403C>T)	ClinVar gnomAD v4
4	g.1001561A>C	CA355961834	IDUA	c.587A>C (p.Gln196Pro) n.643A>C c.446A>C (p.Gln149Pro) c.547A>C c.380A>C (p.Gln127Pro) c.404A>C (p.Gln135Pro) c.191A>C (p.Gln64Pro) n.487A>C n.675A>C c.299A>C (p.Gln100Pro) n.656A>C c.-402A>C (n.-402A>C)
4	g.1001561A>G	CA355961835	IDUA	c.587A>G (p.Gln196Arg) n.643A>G c.446A>G (p.Gln149Arg) c.547A>G c.380A>G (p.Gln127Arg) c.404A>G (p.Gln135Arg) c.191A>G (p.Gln64Arg) n.487A>G n.675A>G c.299A>G (p.Gln100Arg) n.656A>G c.-402A>G (n.-402A>G)	gnomAD v4
4	g.1001561A>T	CA355961836	IDUA	c.587A>T (p.Gln196Leu) n.643A>T c.446A>T (p.Gln149Leu) c.547A>T c.380A>T (p.Gln127Leu) c.404A>T (p.Gln135Leu) c.191A>T (p.Gln64Leu) n.487A>T n.675A>T c.299A>T (p.Gln100Leu) n.656A>T c.-402A>T (n.-402A>T)
4	g.1001562A=	CA1433067485	IDUA	c.588A= (p.Gln196=) n.644A= c.447A= (p.Gln149=) c.548A= c.381A= (p.Gln127=) c.405A= (p.Gln135=) c.192A= (p.Gln64=) n.488A= n.676A= c.300A= (p.Gln100=) n.657A= c.-401A= (n.-401A=)
4	g.1001562A>C	CA355961837	IDUA	c.588A>C (p.Gln196His) n.644A>C c.447A>C (p.Gln149His) c.548A>C c.381A>C (p.Gln127His) c.405A>C (p.Gln135His) c.192A>C (p.Gln64His) n.488A>C n.676A>C c.300A>C (p.Gln100His) n.657A>C c.-401A>C (n.-401A>C)
4	g.1001562A>G	CA437918935	IDUA	c.588A>G (p.Gln196=) n.644A>G c.447A>G (p.Gln149=) c.548A>G c.381A>G (p.Gln127=) c.405A>G (p.Gln135=) c.192A>G (p.Gln64=) n.488A>G n.676A>G c.300A>G (p.Gln100=) n.657A>G c.-401A>G (n.-401A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001562A>T	CA355961838	IDUA	c.588A>T (p.Gln196His) n.644A>T c.447A>T (p.Gln149His) c.548A>T c.381A>T (p.Gln127His) c.405A>T (p.Gln135His) c.192A>T (p.Gln64His) n.488A>T n.676A>T c.300A>T (p.Gln100His) n.657A>T c.-401A>T (n.-401A>T)
4	g.1001563G>A	CA355961839	IDUA	c.589G>A (p.Gly197Ser) n.645G>A c.448G>A (p.Gly150Ser) c.549G>A c.382G>A (p.Gly128Ser) c.406G>A (p.Gly136Ser) c.193G>A (p.Gly65Ser) n.489G>A n.677G>A c.301G>A (p.Gly101Ser) n.658G>A c.-400G>A (n.-400G>A)	ClinVar dbSNP gnomAD v4
4	g.1001563G>C	CA355961840	IDUA	c.589G>C (p.Gly197Arg) n.645G>C c.448G>C (p.Gly150Arg) c.549G>C c.382G>C (p.Gly128Arg) c.406G>C (p.Gly136Arg) c.193G>C (p.Gly65Arg) n.489G>C n.677G>C c.301G>C (p.Gly101Arg) n.658G>C c.-400G>C (n.-400G>C)	gnomAD v4
4	g.1001563G>T	CA355961841	IDUA	c.589G>T (p.Gly197Cys) n.645G>T c.448G>T (p.Gly150Cys) c.549G>T c.382G>T (p.Gly128Cys) c.406G>T (p.Gly136Cys) c.193G>T (p.Gly65Cys) n.489G>T n.677G>T c.301G>T (p.Gly101Cys) n.658G>T c.-400G>T (n.-400G>T)
4	g.1001564G>A	CA355961842	IDUA	c.589+1G>A (n.589+1G>A) n.645+1G>A c.448+1G>A (n.448+1G>A) c.549+1G>A c.382+1G>A (n.382+1G>A) c.406+1G>A (n.406+1G>A) c.193+1G>A (n.193+1G>A) n.489+1G>A n.677+1G>A c.301+1G>A (n.301+1G>A) n.658+1G>A c.-400+1G>A (n.-400+1G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4	g.1001564G>C	CA355961843	IDUA	c.589+1G>C (n.589+1G>C) n.645+1G>C c.448+1G>C (n.448+1G>C) c.549+1G>C c.382+1G>C (n.382+1G>C) c.406+1G>C (n.406+1G>C) c.193+1G>C (n.193+1G>C) n.489+1G>C n.677+1G>C c.301+1G>C (n.301+1G>C) n.658+1G>C c.-400+1G>C (n.-400+1G>C)
4	g.1001564G=	CA1433067490	IDUA	c.589+1G= (n.589+1G=) n.645+1G= c.448+1G= (n.448+1G=) c.549+1G= c.382+1G= (n.382+1G=) c.406+1G= (n.406+1G=) c.193+1G= (n.193+1G=) n.489+1G= n.677+1G= c.301+1G= (n.301+1G=) n.658+1G= c.-400+1G= (n.-400+1G=)
4	g.1001564G>T	CA355961844	IDUA	c.589+1G>T (n.589+1G>T) n.645+1G>T c.448+1G>T (n.448+1G>T) c.549+1G>T c.382+1G>T (n.382+1G>T) c.406+1G>T (n.406+1G>T) c.193+1G>T (n.193+1G>T) n.489+1G>T n.677+1G>T c.301+1G>T (n.301+1G>T) n.658+1G>T c.-400+1G>T (n.-400+1G>T)	ClinVar dbSNP
4	g.1001565T>A	CA355961847	IDUA	c.589+2T>A (n.589+2T>A) n.645+2T>A c.448+2T>A (n.448+2T>A) c.549+2T>A c.382+2T>A (n.382+2T>A) c.406+2T>A (n.406+2T>A) c.193+2T>A (n.193+2T>A) n.489+2T>A n.677+2T>A c.301+2T>A (n.301+2T>A) n.658+2T>A c.-400+2T>A (n.-400+2T>A)
4	g.1001565T>C	CA355961846	IDUA	c.589+2T>C (n.589+2T>C) n.645+2T>C c.448+2T>C (n.448+2T>C) c.549+2T>C c.382+2T>C (n.382+2T>C) c.406+2T>C (n.406+2T>C) c.193+2T>C (n.193+2T>C) n.489+2T>C n.677+2T>C c.301+2T>C (n.301+2T>C) n.658+2T>C c.-400+2T>C (n.-400+2T>C)
4	g.1001565T>G	CA355961845	IDUA	c.589+2T>G (n.589+2T>G) n.645+2T>G c.448+2T>G (n.448+2T>G) c.549+2T>G c.382+2T>G (n.382+2T>G) c.406+2T>G (n.406+2T>G) c.193+2T>G (n.193+2T>G) n.489+2T>G n.677+2T>G c.301+2T>G (n.301+2T>G) n.658+2T>G c.-400+2T>G (n.-400+2T>G)
4	g.1001566G>A	CA2669479151	IDUA	c.589+3G>A (n.589+3G>A) n.645+3G>A c.448+3G>A (n.448+3G>A) c.549+3G>A c.382+3G>A (n.382+3G>A) c.406+3G>A (n.406+3G>A) c.193+3G>A (n.193+3G>A) n.489+3G>A n.677+3G>A c.301+3G>A (n.301+3G>A) n.658+3G>A c.-400+3G>A (n.-400+3G>A)	gnomAD v4
4	g.1001566G>T	CA2669479152	IDUA	c.589+3G>T (n.589+3G>T) n.645+3G>T c.448+3G>T (n.448+3G>T) c.549+3G>T c.382+3G>T (n.382+3G>T) c.406+3G>T (n.406+3G>T) c.193+3G>T (n.193+3G>T) n.489+3G>T n.677+3G>T c.301+3G>T (n.301+3G>T) n.658+3G>T c.-400+3G>T (n.-400+3G>T)	gnomAD v4

Number of alleles fetched