Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.140695744G>A	CA361197936	HARS2	c.532G>A (p.Asp178Asn) c.310G>A (p.Asp104Asn) c.322G>A (p.Asp108Asn) c.110G>A (n.110G>A) c.498G>A c.550G>A (p.Asp184Asn) c.115G>A (p.Asp39Asn) c.457G>A (p.Asp153Asn) c.332G>A (n.332G>A) n.539G>A c.100G>A (p.Asp34Asn) c.-203G>A (n.-203G>A)
5	g.140695744G>C	CA361197939	HARS2	c.532G>C (p.Asp178His) c.310G>C (p.Asp104His) c.322G>C (p.Asp108His) c.110G>C (n.110G>C) c.498G>C c.550G>C (p.Asp184His) c.115G>C (p.Asp39His) c.457G>C (p.Asp153His) c.332G>C (n.332G>C) n.539G>C c.100G>C (p.Asp34His) c.-203G>C (n.-203G>C)	gnomAD v4
5	g.140695744G>T	CA361197940	HARS2	c.532G>T (p.Asp178Tyr) c.310G>T (p.Asp104Tyr) c.322G>T (p.Asp108Tyr) c.110G>T (n.110G>T) c.498G>T c.550G>T (p.Asp184Tyr) c.115G>T (p.Asp39Tyr) c.457G>T (p.Asp153Tyr) c.332G>T (n.332G>T) n.539G>T c.100G>T (p.Asp34Tyr) c.-203G>T (n.-203G>T)	gnomAD v4
5	g.140695745A>C	CA361197943	HARS2	c.533A>C (p.Asp178Ala) c.311A>C (p.Asp104Ala) c.323A>C (p.Asp108Ala) c.111A>C (n.111A>C) c.499A>C c.551A>C (p.Asp184Ala) c.116A>C (p.Asp39Ala) c.458A>C (p.Asp153Ala) c.333A>C (n.333A>C) n.540A>C c.101A>C (p.Asp34Ala) c.-202A>C (n.-202A>C)
5	g.140695745A>G	CA361197946	HARS2	c.533A>G (p.Asp178Gly) c.311A>G (p.Asp104Gly) c.323A>G (p.Asp108Gly) c.111A>G (n.111A>G) c.499A>G c.551A>G (p.Asp184Gly) c.116A>G (p.Asp39Gly) c.458A>G (p.Asp153Gly) c.333A>G (n.333A>G) n.540A>G c.101A>G (p.Asp34Gly) c.-202A>G (n.-202A>G)
5	g.140695745A>T	CA361197947	HARS2	c.533A>T (p.Asp178Val) c.311A>T (p.Asp104Val) c.323A>T (p.Asp108Val) c.111A>T (n.111A>T) c.499A>T c.551A>T (p.Asp184Val) c.116A>T (p.Asp39Val) c.458A>T (p.Asp153Val) c.333A>T (n.333A>T) n.540A>T c.101A>T (p.Asp34Val) c.-202A>T (n.-202A>T)
5	g.140695746C>A	CA361197948	HARS2	c.534C>A (p.Asp178Glu) c.312C>A (p.Asp104Glu) c.324C>A (p.Asp108Glu) c.112C>A (n.112C>A) c.500C>A c.552C>A (p.Asp184Glu) c.117C>A (p.Asp39Glu) c.459C>A (p.Asp153Glu) c.334C>A (n.334C>A) n.541C>A c.102C>A (p.Asp34Glu) c.-201C>A (n.-201C>A)
5	g.140695746C=	CA1586866747	HARS2	c.534C= (p.Asp178=) c.312C= (p.Asp104=) c.324C= (p.Asp108=) c.112C= (n.112C=) c.500C= c.552C= (p.Asp184=) c.117C= (p.Asp39=) c.459C= (p.Asp153=) c.334C= (n.334C=) n.541C= c.102C= (p.Asp34=) c.-201C= (n.-201C=)
5	g.140695746C>G	CA361197949	HARS2	c.534C>G (p.Asp178Glu) c.312C>G (p.Asp104Glu) c.324C>G (p.Asp108Glu) c.112C>G (n.112C>G) c.500C>G c.552C>G (p.Asp184Glu) c.117C>G (p.Asp39Glu) c.459C>G (p.Asp153Glu) c.334C>G (n.334C>G) n.541C>G c.102C>G (p.Asp34Glu) c.-201C>G (n.-201C>G)
5	g.140695746C>T	CA446804362	HARS2	c.534C>T (p.Asp178=) c.312C>T (p.Asp104=) c.324C>T (p.Asp108=) c.112C>T (n.112C>T) c.500C>T c.552C>T (p.Asp184=) c.117C>T (p.Asp39=) c.459C>T (p.Asp153=) c.334C>T (n.334C>T) n.541C>T c.102C>T (p.Asp34=) c.-201C>T (n.-201C>T)	dbSNP gnomAD v3 gnomAD v4 COSMIC
5	g.140695747A=	CA1586866752	HARS2	c.535A= (p.Ile179=) c.313A= (p.Ile105=) c.325A= (p.Ile109=) c.113A= (n.113A=) c.501A= c.553A= (p.Ile185=) c.118A= (p.Ile40=) c.460A= (p.Ile154=) c.335A= (n.335A=) n.542A= c.103A= (p.Ile35=) c.-200A= (n.-200A=)
5	g.140695747A>C	CA361197954	HARS2	c.535A>C (p.Ile179Leu) c.313A>C (p.Ile105Leu) c.325A>C (p.Ile109Leu) c.113A>C (n.113A>C) c.501A>C c.553A>C (p.Ile185Leu) c.118A>C (p.Ile40Leu) c.460A>C (p.Ile154Leu) c.335A>C (n.335A>C) n.542A>C c.103A>C (p.Ile35Leu) c.-200A>C (n.-200A>C)
5	g.140695747A>G	CA361197950	HARS2	c.535A>G (p.Ile179Val) c.313A>G (p.Ile105Val) c.325A>G (p.Ile109Val) c.113A>G (n.113A>G) c.501A>G c.553A>G (p.Ile185Val) c.118A>G (p.Ile40Val) c.460A>G (p.Ile154Val) c.335A>G (n.335A>G) n.542A>G c.103A>G (p.Ile35Val) c.-200A>G (n.-200A>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
5	g.140695747A>T	CA361197952	HARS2	c.535A>T (p.Ile179Phe) c.313A>T (p.Ile105Phe) c.325A>T (p.Ile109Phe) c.113A>T (n.113A>T) c.501A>T c.553A>T (p.Ile185Phe) c.118A>T (p.Ile40Phe) c.460A>T (p.Ile154Phe) c.335A>T (n.335A>T) n.542A>T c.103A>T (p.Ile35Phe) c.-200A>T (n.-200A>T)	gnomAD v4
5	g.140695748T>A	CA361197958	HARS2	c.536T>A (p.Ile179Asn) c.314T>A (p.Ile105Asn) c.326T>A (p.Ile109Asn) c.114T>A (n.114T>A) c.502T>A c.554T>A (p.Ile185Asn) c.119T>A (p.Ile40Asn) c.461T>A (p.Ile154Asn) c.336T>A (n.336T>A) n.543T>A c.104T>A (p.Ile35Asn) c.-199T>A (n.-199T>A)
5	g.140695748T>C	CA361197962	HARS2	c.536T>C (p.Ile179Thr) c.314T>C (p.Ile105Thr) c.326T>C (p.Ile109Thr) c.114T>C (n.114T>C) c.502T>C c.554T>C (p.Ile185Thr) c.119T>C (p.Ile40Thr) c.461T>C (p.Ile154Thr) c.336T>C (n.336T>C) n.543T>C c.104T>C (p.Ile35Thr) c.-199T>C (n.-199T>C)
5	g.140695748T>G	CA361197964	HARS2	c.536T>G (p.Ile179Ser) c.314T>G (p.Ile105Ser) c.326T>G (p.Ile109Ser) c.114T>G (n.114T>G) c.502T>G c.554T>G (p.Ile185Ser) c.119T>G (p.Ile40Ser) c.461T>G (p.Ile154Ser) c.336T>G (n.336T>G) n.543T>G c.104T>G (p.Ile35Ser) c.-199T>G (n.-199T>G)
5	g.140695749T>A	CA446804363	HARS2	c.537T>A (p.Ile179=) c.315T>A (p.Ile105=) c.327T>A (p.Ile109=) c.115T>A (n.115T>A) c.503T>A c.555T>A (p.Ile185=) c.120T>A (p.Ile40=) c.462T>A (p.Ile154=) c.337T>A (n.337T>A) n.544T>A c.105T>A (p.Ile35=) c.-198T>A (n.-198T>A)
5	g.140695749T>C	CA446804365	HARS2	c.537T>C (p.Ile179=) c.315T>C (p.Ile105=) c.327T>C (p.Ile109=) c.115T>C (n.115T>C) c.503T>C c.555T>C (p.Ile185=) c.120T>C (p.Ile40=) c.462T>C (p.Ile154=) c.337T>C (n.337T>C) n.544T>C c.105T>C (p.Ile35=) c.-198T>C (n.-198T>C)
5	g.140695749T>G	CA361197969	HARS2	c.537T>G (p.Ile179Met) c.315T>G (p.Ile105Met) c.327T>G (p.Ile109Met) c.115T>G (n.115T>G) c.503T>G c.555T>G (p.Ile185Met) c.120T>G (p.Ile40Met) c.462T>G (p.Ile154Met) c.337T>G (n.337T>G) n.544T>G c.105T>G (p.Ile35Met) c.-198T>G (n.-198T>G)
5	g.140695750G>A	CA361197970	HARS2	c.538G>A (p.Ala180Thr) c.316G>A (p.Ala106Thr) c.328G>A (p.Ala110Thr) c.116G>A (n.116G>A) c.504G>A c.556G>A (p.Ala186Thr) c.121G>A (p.Ala41Thr) c.463G>A (p.Ala155Thr) c.338G>A (n.338G>A) n.545G>A c.106G>A (p.Ala36Thr) c.-197G>A (n.-197G>A)
5	g.140695750G>C	CA361197973	HARS2	c.538G>C (p.Ala180Pro) c.316G>C (p.Ala106Pro) c.328G>C (p.Ala110Pro) c.116G>C (n.116G>C) c.504G>C c.556G>C (p.Ala186Pro) c.121G>C (p.Ala41Pro) c.463G>C (p.Ala155Pro) c.338G>C (n.338G>C) n.545G>C c.106G>C (p.Ala36Pro) c.-197G>C (n.-197G>C)
5	g.140695750G>T	CA361197976	HARS2	c.538G>T (p.Ala180Ser) c.316G>T (p.Ala106Ser) c.328G>T (p.Ala110Ser) c.116G>T (n.116G>T) c.504G>T c.556G>T (p.Ala186Ser) c.121G>T (p.Ala41Ser) c.463G>T (p.Ala155Ser) c.338G>T (n.338G>T) n.545G>T c.106G>T (p.Ala36Ser) c.-197G>T (n.-197G>T)
5	g.140695751C>A	CA361197979	HARS2	c.539C>A (p.Ala180Asp) c.317C>A (p.Ala106Asp) c.329C>A (p.Ala110Asp) c.117C>A (n.117C>A) c.505C>A c.557C>A (p.Ala186Asp) c.122C>A (p.Ala41Asp) c.464C>A (p.Ala155Asp) c.339C>A (n.339C>A) n.546C>A c.107C>A (p.Ala36Asp) c.-196C>A (n.-196C>A)
5	g.140695751C>G	CA361197982	HARS2	c.539C>G (p.Ala180Gly) c.317C>G (p.Ala106Gly) c.329C>G (p.Ala110Gly) c.117C>G (n.117C>G) c.505C>G c.557C>G (p.Ala186Gly) c.122C>G (p.Ala41Gly) c.464C>G (p.Ala155Gly) c.339C>G (n.339C>G) n.546C>G c.107C>G (p.Ala36Gly) c.-196C>G (n.-196C>G)
5	g.140695751C>T	CA361197985	HARS2	c.539C>T (p.Ala180Val) c.317C>T (p.Ala106Val) c.329C>T (p.Ala110Val) c.117C>T (n.117C>T) c.505C>T c.557C>T (p.Ala186Val) c.122C>T (p.Ala41Val) c.464C>T (p.Ala155Val) c.339C>T (n.339C>T) n.546C>T c.107C>T (p.Ala36Val) c.-196C>T (n.-196C>T)
5	g.140695752T>A	CA446804372	HARS2	c.540T>A (p.Ala180=) c.318T>A (p.Ala106=) c.330T>A (p.Ala110=) c.118T>A (n.118T>A) c.506T>A c.558T>A (p.Ala186=) c.123T>A (p.Ala41=) c.465T>A (p.Ala155=) c.340T>A (n.340T>A) n.547T>A c.108T>A (p.Ala36=) c.-195T>A (n.-195T>A)
5	g.140695752T>C	CA446804373	HARS2	c.540T>C (p.Ala180=) c.318T>C (p.Ala106=) c.330T>C (p.Ala110=) c.118T>C (n.118T>C) c.506T>C c.558T>C (p.Ala186=) c.123T>C (p.Ala41=) c.465T>C (p.Ala155=) c.340T>C (n.340T>C) n.547T>C c.108T>C (p.Ala36=) c.-195T>C (n.-195T>C)	dbSNP gnomAD v2
5	g.140695752T>G	CA446804374	HARS2	c.540T>G (p.Ala180=) c.318T>G (p.Ala106=) c.330T>G (p.Ala110=) c.118T>G (n.118T>G) c.506T>G c.558T>G (p.Ala186=) c.123T>G (p.Ala41=) c.465T>G (p.Ala155=) c.340T>G (n.340T>G) n.547T>G c.108T>G (p.Ala36=) c.-195T>G (n.-195T>G)
5	g.140695752T=	CA1586866757	HARS2	c.540T= (p.Ala180=) c.318T= (p.Ala106=) c.330T= (p.Ala110=) c.118T= (n.118T=) c.506T= c.558T= (p.Ala186=) c.123T= (p.Ala41=) c.465T= (p.Ala155=) c.340T= (n.340T=) n.547T= c.108T= (p.Ala36=) c.-195T= (n.-195T=)
5	g.140695753G>A	CA361197988	HARS2	c.541G>A (p.Gly181Ser) c.319G>A (p.Gly107Ser) c.331G>A (p.Gly111Ser) c.119G>A (n.119G>A) c.507G>A c.559G>A (p.Gly187Ser) c.124G>A (p.Gly42Ser) c.466G>A (p.Gly156Ser) c.341G>A (n.341G>A) n.548G>A c.109G>A (p.Gly37Ser) c.-194G>A (n.-194G>A)
5	g.140695753G>C	CA361197991	HARS2	c.541G>C (p.Gly181Arg) c.319G>C (p.Gly107Arg) c.331G>C (p.Gly111Arg) c.119G>C (n.119G>C) c.507G>C c.559G>C (p.Gly187Arg) c.124G>C (p.Gly42Arg) c.466G>C (p.Gly156Arg) c.341G>C (n.341G>C) n.548G>C c.109G>C (p.Gly37Arg) c.-194G>C (n.-194G>C)
5	g.140695753G>T	CA361197994	HARS2	c.541G>T (p.Gly181Cys) c.319G>T (p.Gly107Cys) c.331G>T (p.Gly111Cys) c.119G>T (n.119G>T) c.507G>T c.559G>T (p.Gly187Cys) c.124G>T (p.Gly42Cys) c.466G>T (p.Gly156Cys) c.341G>T (n.341G>T) n.548G>T c.109G>T (p.Gly37Cys) c.-194G>T (n.-194G>T)
5	g.140695754G>A	CA361198001	HARS2	c.542G>A (p.Gly181Asp) c.320G>A (p.Gly107Asp) c.332G>A (p.Gly111Asp) c.120G>A (n.120G>A) c.508G>A c.560G>A (p.Gly187Asp) c.125G>A (p.Gly42Asp) c.467G>A (p.Gly156Asp) c.342G>A (n.342G>A) n.549G>A c.110G>A (p.Gly37Asp) c.-193G>A (n.-193G>A)	dbSNP
5	g.140695754G>C	CA361198002	HARS2	c.542G>C (p.Gly181Ala) c.320G>C (p.Gly107Ala) c.332G>C (p.Gly111Ala) c.120G>C (n.120G>C) c.508G>C c.560G>C (p.Gly187Ala) c.125G>C (p.Gly42Ala) c.467G>C (p.Gly156Ala) c.342G>C (n.342G>C) n.549G>C c.110G>C (p.Gly37Ala) c.-193G>C (n.-193G>C)
5	g.140695754G=	CA1586866760	HARS2	c.542G= (p.Gly181=) c.320G= (p.Gly107=) c.332G= (p.Gly111=) c.120G= (n.120G=) c.508G= c.560G= (p.Gly187=) c.125G= (p.Gly42=) c.467G= (p.Gly156=) c.342G= (n.342G=) n.549G= c.110G= (p.Gly37=) c.-193G= (n.-193G=)
5	g.140695754G>T	CA361197998	HARS2	c.542G>T (p.Gly181Val) c.320G>T (p.Gly107Val) c.332G>T (p.Gly111Val) c.120G>T (n.120G>T) c.508G>T c.560G>T (p.Gly187Val) c.125G>T (p.Gly42Val) c.467G>T (p.Gly156Val) c.342G>T (n.342G>T) n.549G>T c.110G>T (p.Gly37Val) c.-193G>T (n.-193G>T)
5	g.140695755T>A	CA446804375	HARS2	c.543T>A (p.Gly181=) c.321T>A (p.Gly107=) c.333T>A (p.Gly111=) c.121T>A (n.121T>A) c.509T>A c.561T>A (p.Gly187=) c.126T>A (p.Gly42=) c.468T>A (p.Gly156=) c.343T>A (n.343T>A) n.550T>A c.111T>A (p.Gly37=) c.-192T>A (n.-192T>A)
5	g.140695755T>C	CA446804376	HARS2	c.543T>C (p.Gly181=) c.321T>C (p.Gly107=) c.333T>C (p.Gly111=) c.121T>C (n.121T>C) c.509T>C c.561T>C (p.Gly187=) c.126T>C (p.Gly42=) c.468T>C (p.Gly156=) c.343T>C (n.343T>C) n.550T>C c.111T>C (p.Gly37=) c.-192T>C (n.-192T>C)
5	g.140695755T>G	CA446804377	HARS2	c.543T>G (p.Gly181=) c.321T>G (p.Gly107=) c.333T>G (p.Gly111=) c.121T>G (n.121T>G) c.509T>G c.561T>G (p.Gly187=) c.126T>G (p.Gly42=) c.468T>G (p.Gly156=) c.343T>G (n.343T>G) n.550T>G c.111T>G (p.Gly37=) c.-192T>G (n.-192T>G)	dbSNP gnomAD v3 gnomAD v4
5	g.140695755T=	CA1586866763	HARS2	c.543T= (p.Gly181=) c.321T= (p.Gly107=) c.333T= (p.Gly111=) c.121T= (n.121T=) c.509T= c.561T= (p.Gly187=) c.126T= (p.Gly42=) c.468T= (p.Gly156=) c.343T= (n.343T=) n.550T= c.111T= (p.Gly37=) c.-192T= (n.-192T=)
5	g.140695756C>A	CA361198006	HARS2	c.544C>A (p.Gln182Lys) c.322C>A (p.Gln108Lys) c.334C>A (p.Gln112Lys) c.122C>A (n.122C>A) c.510C>A c.562C>A (p.Gln188Lys) c.127C>A (p.Gln43Lys) c.469C>A (p.Gln157Lys) c.344C>A (n.344C>A) n.551C>A c.112C>A (p.Gln38Lys) c.-191C>A (n.-191C>A)	gnomAD v4
5	g.140695756C=	CA1586866768	HARS2	c.544C= (p.Gln182=) c.322C= (p.Gln108=) c.334C= (p.Gln112=) c.122C= (n.122C=) c.510C= c.562C= (p.Gln188=) c.127C= (p.Gln43=) c.469C= (p.Gln157=) c.344C= (n.344C=) n.551C= c.112C= (p.Gln38=) c.-191C= (n.-191C=)
5	g.140695756C>G	CA361198009	HARS2	c.544C>G (p.Gln182Glu) c.322C>G (p.Gln108Glu) c.334C>G (p.Gln112Glu) c.122C>G (n.122C>G) c.510C>G c.562C>G (p.Gln188Glu) c.127C>G (p.Gln43Glu) c.469C>G (p.Gln157Glu) c.344C>G (n.344C>G) n.551C>G c.112C>G (p.Gln38Glu) c.-191C>G (n.-191C>G)	dbSNP
5	g.140695756C>T	CA361198011	HARS2	c.544C>T (p.Gln182Ter) c.322C>T (p.Gln108Ter) c.334C>T (p.Gln112Ter) c.122C>T (n.122C>T) c.510C>T c.562C>T (p.Gln188Ter) c.127C>T (p.Gln43Ter) c.469C>T (p.Gln157Ter) c.344C>T (n.344C>T) n.551C>T c.112C>T (p.Gln38Ter) c.-191C>T (n.-191C>T)
5	g.140695757A>C	CA361198013	HARS2	c.545A>C (p.Gln182Pro) c.323A>C (p.Gln108Pro) c.335A>C (p.Gln112Pro) c.123A>C (n.123A>C) c.511A>C c.563A>C (p.Gln188Pro) c.128A>C (p.Gln43Pro) c.470A>C (p.Gln157Pro) c.345A>C (n.345A>C) n.552A>C c.113A>C (p.Gln38Pro) c.-190A>C (n.-190A>C)
5	g.140695757A>G	CA361198015	HARS2	c.545A>G (p.Gln182Arg) c.323A>G (p.Gln108Arg) c.335A>G (p.Gln112Arg) c.123A>G (n.123A>G) c.511A>G c.563A>G (p.Gln188Arg) c.128A>G (p.Gln43Arg) c.470A>G (p.Gln157Arg) c.345A>G (n.345A>G) n.552A>G c.113A>G (p.Gln38Arg) c.-190A>G (n.-190A>G)	gnomAD v4
5	g.140695757A>T	CA361198017	HARS2	c.545A>T (p.Gln182Leu) c.323A>T (p.Gln108Leu) c.335A>T (p.Gln112Leu) c.123A>T (n.123A>T) c.511A>T c.563A>T (p.Gln188Leu) c.128A>T (p.Gln43Leu) c.470A>T (p.Gln157Leu) c.345A>T (n.345A>T) n.552A>T c.113A>T (p.Gln38Leu) c.-190A>T (n.-190A>T)
5	g.140695758G>A	CA128341919	HARS2	c.546G>A (p.Gln182=) c.324G>A (p.Gln108=) c.336G>A (p.Gln112=) c.124G>A (n.124G>A) c.512G>A c.564G>A (p.Gln188=) c.129G>A (p.Gln43=) c.471G>A (p.Gln157=) c.346G>A (n.346G>A) n.553G>A c.114G>A (p.Gln38=) c.-189G>A (n.-189G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.140695758G>C	CA3444467	HARS2	c.546G>C (p.Gln182His) c.324G>C (p.Gln108His) c.336G>C (p.Gln112His) c.124G>C (n.124G>C) c.512G>C c.564G>C (p.Gln188His) c.129G>C (p.Gln43His) c.471G>C (p.Gln157His) c.346G>C (n.346G>C) n.553G>C c.114G>C (p.Gln38His) c.-189G>C (n.-189G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.140695758G=	CA1586866777	HARS2	c.546G= (p.Gln182=) c.324G= (p.Gln108=) c.336G= (p.Gln112=) c.124G= (n.124G=) c.512G= c.564G= (p.Gln188=) c.129G= (p.Gln43=) c.471G= (p.Gln157=) c.346G= (n.346G=) n.553G= c.114G= (p.Gln38=) c.-189G= (n.-189G=)
5	g.140695758G>T	CA361198021	HARS2	c.546G>T (p.Gln182His) c.324G>T (p.Gln108His) c.336G>T (p.Gln112His) c.124G>T (n.124G>T) c.512G>T c.564G>T (p.Gln188His) c.129G>T (p.Gln43His) c.471G>T (p.Gln157His) c.346G>T (n.346G>T) n.553G>T c.114G>T (p.Gln38His) c.-189G>T (n.-189G>T)
5	g.140695758_140695759delinsGT	CA1586866774	HARS2	c.546_547delinsGT (p.Gln182=) c.324_325delinsGT (p.Gln108=) c.336_337delinsGT (p.Gln112=) c.124_125delinsGT (n.124_125delinsGT) c.512_513delinsGT c.564_565delinsGT (p.Gln188=) c.129_130delinsGT (p.Gln43=) c.471_472delinsGT (p.Gln157=) c.346_347delinsGT (n.346_347delinsGT) n.553_554delinsGT c.114_115delinsGT (p.Gln38=) c.-189_-188delinsGT (n.-189_-188delinsGT)
5	g.140695759T>A	CA361198026	HARS2	c.547T>A (p.Phe183Ile) c.325T>A (p.Phe109Ile) c.337T>A (p.Phe113Ile) c.125T>A (n.125T>A) c.513T>A c.565T>A (p.Phe189Ile) c.130T>A (p.Phe44Ile) c.472T>A (p.Phe158Ile) c.347T>A (n.347T>A) n.554T>A c.115T>A (p.Phe39Ile) c.-188T>A (n.-188T>A)
5	g.140695759T>C	CA361198027	HARS2	c.547T>C (p.Phe183Leu) c.325T>C (p.Phe109Leu) c.337T>C (p.Phe113Leu) c.125T>C (n.125T>C) c.513T>C c.565T>C (p.Phe189Leu) c.130T>C (p.Phe44Leu) c.472T>C (p.Phe158Leu) c.347T>C (n.347T>C) n.554T>C c.115T>C (p.Phe39Leu) c.-188T>C (n.-188T>C)
5	g.140695759T>G	CA361198029	HARS2	c.547T>G (p.Phe183Val) c.325T>G (p.Phe109Val) c.337T>G (p.Phe113Val) c.125T>G (n.125T>G) c.513T>G c.565T>G (p.Phe189Val) c.130T>G (p.Phe44Val) c.472T>G (p.Phe158Val) c.347T>G (n.347T>G) n.554T>G c.115T>G (p.Phe39Val) c.-188T>G (n.-188T>G)
5	g.140695761del	CA446804379	HARS2	c.549del (p.Phe183LeufsTer4) c.327del (p.Phe109LeufsTer4) c.339del (p.Phe113LeufsTer4) c.127del (n.127del) c.515del c.567del (p.Phe189LeufsTer4) c.132del (p.Phe44LeufsTer4) c.474del (p.Phe158LeufsTer4) c.349del (n.349del) n.556del c.117del (p.Phe39LeufsTer4) c.-186del (n.-186del)	dbSNP
5	g.140695760T>A	CA361198033	HARS2	c.548T>A (p.Phe183Tyr) c.326T>A (p.Phe109Tyr) c.338T>A (p.Phe113Tyr) c.126T>A (n.126T>A) c.514T>A c.566T>A (p.Phe189Tyr) c.131T>A (p.Phe44Tyr) c.473T>A (p.Phe158Tyr) c.348T>A (n.348T>A) n.555T>A c.116T>A (p.Phe39Tyr) c.-187T>A (n.-187T>A)
5	g.140695760T>C	CA361198035	HARS2	c.548T>C (p.Phe183Ser) c.326T>C (p.Phe109Ser) c.338T>C (p.Phe113Ser) c.126T>C (n.126T>C) c.514T>C c.566T>C (p.Phe189Ser) c.131T>C (p.Phe44Ser) c.473T>C (p.Phe158Ser) c.348T>C (n.348T>C) n.555T>C c.116T>C (p.Phe39Ser) c.-187T>C (n.-187T>C)
5	g.140695760T>G	CA361198037	HARS2	c.548T>G (p.Phe183Cys) c.326T>G (p.Phe109Cys) c.338T>G (p.Phe113Cys) c.126T>G (n.126T>G) c.514T>G c.566T>G (p.Phe189Cys) c.131T>G (p.Phe44Cys) c.473T>G (p.Phe158Cys) c.348T>G (n.348T>G) n.555T>G c.116T>G (p.Phe39Cys) c.-187T>G (n.-187T>G)
5	g.140695761T>A	CA361198041	HARS2	c.549T>A (p.Phe183Leu) c.327T>A (p.Phe109Leu) c.339T>A (p.Phe113Leu) c.127T>A (n.127T>A) c.515T>A c.567T>A (p.Phe189Leu) c.132T>A (p.Phe44Leu) c.474T>A (p.Phe158Leu) c.349T>A (n.349T>A) n.556T>A c.117T>A (p.Phe39Leu) c.-186T>A (n.-186T>A)
5	g.140695761T>C	CA446804383	HARS2	c.549T>C (p.Phe183=) c.327T>C (p.Phe109=) c.339T>C (p.Phe113=) c.127T>C (n.127T>C) c.515T>C c.567T>C (p.Phe189=) c.132T>C (p.Phe44=) c.474T>C (p.Phe158=) c.349T>C (n.349T>C) n.556T>C c.117T>C (p.Phe39=) c.-186T>C (n.-186T>C)
5	g.140695761T>G	CA361198039	HARS2	c.549T>G (p.Phe183Leu) c.327T>G (p.Phe109Leu) c.339T>G (p.Phe113Leu) c.127T>G (n.127T>G) c.515T>G c.567T>G (p.Phe189Leu) c.132T>G (p.Phe44Leu) c.474T>G (p.Phe158Leu) c.349T>G (n.349T>G) n.556T>G c.117T>G (p.Phe39Leu) c.-186T>G (n.-186T>G)
5	g.140695762G>A	CA361198044	HARS2	c.550G>A (p.Asp184Asn) c.328G>A (p.Asp110Asn) c.340G>A (p.Asp114Asn) c.128G>A (n.128G>A) c.516G>A c.568G>A (p.Asp190Asn) c.133G>A (p.Asp45Asn) c.475G>A (p.Asp159Asn) c.350G>A (n.350G>A) n.557G>A c.118G>A (p.Asp40Asn) c.-185G>A (n.-185G>A)
5	g.140695762G>C	CA361198047	HARS2	c.550G>C (p.Asp184His) c.328G>C (p.Asp110His) c.340G>C (p.Asp114His) c.128G>C (n.128G>C) c.516G>C c.568G>C (p.Asp190His) c.133G>C (p.Asp45His) c.475G>C (p.Asp159His) c.350G>C (n.350G>C) n.557G>C c.118G>C (p.Asp40His) c.-185G>C (n.-185G>C)	dbSNP gnomAD v4
5	g.140695762G=	CA1586866790	HARS2	c.550G= (p.Asp184=) c.328G= (p.Asp110=) c.340G= (p.Asp114=) c.128G= (n.128G=) c.516G= c.568G= (p.Asp190=) c.133G= (p.Asp45=) c.475G= (p.Asp159=) c.350G= (n.350G=) n.557G= c.118G= (p.Asp40=) c.-185G= (n.-185G=)
5	g.140695762G>T	CA128341923	HARS2	c.550G>T (p.Asp184Tyr) c.328G>T (p.Asp110Tyr) c.340G>T (p.Asp114Tyr) c.128G>T (n.128G>T) c.516G>T c.568G>T (p.Asp190Tyr) c.133G>T (p.Asp45Tyr) c.475G>T (p.Asp159Tyr) c.350G>T (n.350G>T) n.557G>T c.118G>T (p.Asp40Tyr) c.-185G>T (n.-185G>T)	dbSNP gnomAD v4
5	g.140695763A>C	CA361198054	HARS2	c.551A>C (p.Asp184Ala) c.329A>C (p.Asp110Ala) c.341A>C (p.Asp114Ala) c.129A>C (n.129A>C) c.517A>C c.569A>C (p.Asp190Ala) c.134A>C (p.Asp45Ala) c.476A>C (p.Asp159Ala) c.351A>C (n.351A>C) n.558A>C c.119A>C (p.Asp40Ala) c.-184A>C (n.-184A>C)
5	g.140695763A>G	CA361198056	HARS2	c.551A>G (p.Asp184Gly) c.329A>G (p.Asp110Gly) c.341A>G (p.Asp114Gly) c.129A>G (n.129A>G) c.517A>G c.569A>G (p.Asp190Gly) c.134A>G (p.Asp45Gly) c.476A>G (p.Asp159Gly) c.351A>G (n.351A>G) n.558A>G c.119A>G (p.Asp40Gly) c.-184A>G (n.-184A>G)
5	g.140695763A>T	CA361198059	HARS2	c.551A>T (p.Asp184Val) c.329A>T (p.Asp110Val) c.341A>T (p.Asp114Val) c.129A>T (n.129A>T) c.517A>T c.569A>T (p.Asp190Val) c.134A>T (p.Asp45Val) c.476A>T (p.Asp159Val) c.351A>T (n.351A>T) n.558A>T c.119A>T (p.Asp40Val) c.-184A>T (n.-184A>T)
5	g.140695764C>A	CA361198063	HARS2	c.552C>A (p.Asp184Glu) c.330C>A (p.Asp110Glu) c.342C>A (p.Asp114Glu) c.130C>A (n.130C>A) c.518C>A c.570C>A (p.Asp190Glu) c.135C>A (p.Asp45Glu) c.477C>A (p.Asp159Glu) c.352C>A (n.352C>A) n.559C>A c.120C>A (p.Asp40Glu) c.-183C>A (n.-183C>A)
5	g.140695764C=	CA1586866798	HARS2	c.552C= (p.Asp184=) c.330C= (p.Asp110=) c.342C= (p.Asp114=) c.130C= (n.130C=) c.518C= c.570C= (p.Asp190=) c.135C= (p.Asp45=) c.477C= (p.Asp159=) c.352C= (n.352C=) n.559C= c.120C= (p.Asp40=) c.-183C= (n.-183C=)
5	g.140695764C>G	CA128341926	HARS2	c.552C>G (p.Asp184Glu) c.330C>G (p.Asp110Glu) c.342C>G (p.Asp114Glu) c.130C>G (n.130C>G) c.518C>G c.570C>G (p.Asp190Glu) c.135C>G (p.Asp45Glu) c.477C>G (p.Asp159Glu) c.352C>G (n.352C>G) n.559C>G c.120C>G (p.Asp40Glu) c.-183C>G (n.-183C>G)	dbSNP gnomAD v3 gnomAD v4
5	g.140695764C>T	CA446804384	HARS2	c.552C>T (p.Asp184=) c.330C>T (p.Asp110=) c.342C>T (p.Asp114=) c.130C>T (n.130C>T) c.518C>T c.570C>T (p.Asp190=) c.135C>T (p.Asp45=) c.477C>T (p.Asp159=) c.352C>T (n.352C>T) n.559C>T c.120C>T (p.Asp40=) c.-183C>T (n.-183C>T)	dbSNP
5	g.140695765C>A	CA361198068	HARS2	c.553C>A (p.Pro185Thr) c.331C>A (p.Pro111Thr) c.343C>A (p.Pro115Thr) c.131C>A (n.131C>A) c.519C>A c.571C>A (p.Pro191Thr) c.136C>A (p.Pro46Thr) c.478C>A (p.Pro160Thr) c.353C>A (n.353C>A) n.560C>A c.121C>A (p.Pro41Thr) c.-182C>A (n.-182C>A)
5	g.140695765C>G	CA361198070	HARS2	c.553C>G (p.Pro185Ala) c.331C>G (p.Pro111Ala) c.343C>G (p.Pro115Ala) c.131C>G (n.131C>G) c.519C>G c.571C>G (p.Pro191Ala) c.136C>G (p.Pro46Ala) c.478C>G (p.Pro160Ala) c.353C>G (n.353C>G) n.560C>G c.121C>G (p.Pro41Ala) c.-182C>G (n.-182C>G)
5	g.140695765C>T	CA361198073	HARS2	c.553C>T (p.Pro185Ser) c.331C>T (p.Pro111Ser) c.343C>T (p.Pro115Ser) c.131C>T (n.131C>T) c.519C>T c.571C>T (p.Pro191Ser) c.136C>T (p.Pro46Ser) c.478C>T (p.Pro160Ser) c.353C>T (n.353C>T) n.560C>T c.121C>T (p.Pro41Ser) c.-182C>T (n.-182C>T)
5	g.140695766C>A	CA361198075	HARS2	c.554C>A (p.Pro185His) c.332C>A (p.Pro111His) c.344C>A (p.Pro115His) c.132C>A (n.132C>A) c.520C>A c.572C>A (p.Pro191His) c.137C>A (p.Pro46His) c.479C>A (p.Pro160His) c.354C>A (n.354C>A) n.561C>A c.122C>A (p.Pro41His) c.-181C>A (n.-181C>A)
5	g.140695766C>G	CA361198077	HARS2	c.554C>G (p.Pro185Arg) c.332C>G (p.Pro111Arg) c.344C>G (p.Pro115Arg) c.132C>G (n.132C>G) c.520C>G c.572C>G (p.Pro191Arg) c.137C>G (p.Pro46Arg) c.479C>G (p.Pro160Arg) c.354C>G (n.354C>G) n.561C>G c.122C>G (p.Pro41Arg) c.-181C>G (n.-181C>G)
5	g.140695766C>T	CA361198079	HARS2	c.554C>T (p.Pro185Leu) c.332C>T (p.Pro111Leu) c.344C>T (p.Pro115Leu) c.132C>T (n.132C>T) c.520C>T c.572C>T (p.Pro191Leu) c.137C>T (p.Pro46Leu) c.479C>T (p.Pro160Leu) c.354C>T (n.354C>T) n.561C>T c.122C>T (p.Pro41Leu) c.-181C>T (n.-181C>T)	gnomAD v4
5	g.140695767T>A	CA446804386	HARS2	c.555T>A (p.Pro185=) c.333T>A (p.Pro111=) c.345T>A (p.Pro115=) c.133T>A (n.133T>A) c.521T>A c.573T>A (p.Pro191=) c.138T>A (p.Pro46=) c.480T>A (p.Pro160=) c.355T>A (n.355T>A) n.562T>A c.123T>A (p.Pro41=) c.-180T>A (n.-180T>A)
5	g.140695767T>C	CA446804387	HARS2	c.555T>C (p.Pro185=) c.333T>C (p.Pro111=) c.345T>C (p.Pro115=) c.133T>C (n.133T>C) c.521T>C c.573T>C (p.Pro191=) c.138T>C (p.Pro46=) c.480T>C (p.Pro160=) c.355T>C (n.355T>C) n.562T>C c.123T>C (p.Pro41=) c.-180T>C (n.-180T>C)
5	g.140695767T>G	CA446804388	HARS2	c.555T>G (p.Pro185=) c.333T>G (p.Pro111=) c.345T>G (p.Pro115=) c.133T>G (n.133T>G) c.521T>G c.573T>G (p.Pro191=) c.138T>G (p.Pro46=) c.480T>G (p.Pro160=) c.355T>G (n.355T>G) n.562T>G c.123T>G (p.Pro41=) c.-180T>G (n.-180T>G)
5	g.140695768A=	CA1586866804	HARS2	c.556A= (p.Met186=) c.334A= (p.Met112=) c.346A= (p.Met116=) c.134A= (n.134A=) c.522A= c.574A= (p.Met192=) c.139A= (p.Met47=) c.481A= (p.Met161=) c.356A= (n.356A=) n.563A= c.124A= (p.Met42=) c.-179A= (n.-179A=)
5	g.140695768A>C	CA361198080	HARS2	c.556A>C (p.Met186Leu) c.334A>C (p.Met112Leu) c.346A>C (p.Met116Leu) c.134A>C (n.134A>C) c.522A>C c.574A>C (p.Met192Leu) c.139A>C (p.Met47Leu) c.481A>C (p.Met161Leu) c.356A>C (n.356A>C) n.563A>C c.124A>C (p.Met42Leu) c.-179A>C (n.-179A>C)
5	g.140695768A>G	CA361198082	HARS2	c.556A>G (p.Met186Val) c.334A>G (p.Met112Val) c.346A>G (p.Met116Val) c.134A>G (n.134A>G) c.522A>G c.574A>G (p.Met192Val) c.139A>G (p.Met47Val) c.481A>G (p.Met161Val) c.356A>G (n.356A>G) n.563A>G c.124A>G (p.Met42Val) c.-179A>G (n.-179A>G)	dbSNP gnomAD v2 gnomAD v4
5	g.140695768A>T	CA361198081	HARS2	c.556A>T (p.Met186Leu) c.334A>T (p.Met112Leu) c.346A>T (p.Met116Leu) c.134A>T (n.134A>T) c.522A>T c.574A>T (p.Met192Leu) c.139A>T (p.Met47Leu) c.481A>T (p.Met161Leu) c.356A>T (n.356A>T) n.563A>T c.124A>T (p.Met42Leu) c.-179A>T (n.-179A>T)	dbSNP gnomAD v3 gnomAD v4
5	g.140695769T>A	CA361198084	HARS2	c.557T>A (p.Met186Lys) c.335T>A (p.Met112Lys) c.347T>A (p.Met116Lys) c.135T>A (n.135T>A) c.523T>A c.575T>A (p.Met192Lys) c.140T>A (p.Met47Lys) c.482T>A (p.Met161Lys) c.357T>A (n.357T>A) n.564T>A c.125T>A (p.Met42Lys) c.-178T>A (n.-178T>A)
5	g.140695769T>C	CA361198086	HARS2	c.557T>C (p.Met186Thr) c.335T>C (p.Met112Thr) c.347T>C (p.Met116Thr) c.135T>C (n.135T>C) c.523T>C c.575T>C (p.Met192Thr) c.140T>C (p.Met47Thr) c.482T>C (p.Met161Thr) c.357T>C (n.357T>C) n.564T>C c.125T>C (p.Met42Thr) c.-178T>C (n.-178T>C)
5	g.140695769T>G	CA361198088	HARS2	c.557T>G (p.Met186Arg) c.335T>G (p.Met112Arg) c.347T>G (p.Met116Arg) c.135T>G (n.135T>G) c.523T>G c.575T>G (p.Met192Arg) c.140T>G (p.Met47Arg) c.482T>G (p.Met161Arg) c.357T>G (n.357T>G) n.564T>G c.125T>G (p.Met42Arg) c.-178T>G (n.-178T>G)
5	g.140695770G>A	CA361198090	HARS2	c.558G>A (p.Met186Ile) c.336G>A (p.Met112Ile) c.348G>A (p.Met116Ile) c.136G>A (n.136G>A) c.524G>A c.576G>A (p.Met192Ile) c.141G>A (p.Met47Ile) c.483G>A (p.Met161Ile) c.358G>A (n.358G>A) n.565G>A c.126G>A (p.Met42Ile) c.-177G>A (n.-177G>A)
5	g.140695770G>C	CA361198092	HARS2	c.558G>C (p.Met186Ile) c.336G>C (p.Met112Ile) c.348G>C (p.Met116Ile) c.136G>C (n.136G>C) c.524G>C c.576G>C (p.Met192Ile) c.141G>C (p.Met47Ile) c.483G>C (p.Met161Ile) c.358G>C (n.358G>C) n.565G>C c.126G>C (p.Met42Ile) c.-177G>C (n.-177G>C)
5	g.140695770G>T	CA361198093	HARS2	c.558G>T (p.Met186Ile) c.336G>T (p.Met112Ile) c.348G>T (p.Met116Ile) c.136G>T (n.136G>T) c.524G>T c.576G>T (p.Met192Ile) c.141G>T (p.Met47Ile) c.483G>T (p.Met161Ile) c.358G>T (n.358G>T) n.565G>T c.126G>T (p.Met42Ile) c.-177G>T (n.-177G>T)
5	g.140695771A>C	CA361198095	HARS2	c.559A>C (p.Ile187Leu) c.337A>C (p.Ile113Leu) c.349A>C (p.Ile117Leu) c.137A>C (n.137A>C) c.525A>C c.577A>C (p.Ile193Leu) c.142A>C (p.Ile48Leu) c.484A>C (p.Ile162Leu) c.359A>C (n.359A>C) n.566A>C c.127A>C (p.Ile43Leu) c.-176A>C (n.-176A>C)
5	g.140695771A>G	CA361198096	HARS2	c.559A>G (p.Ile187Val) c.337A>G (p.Ile113Val) c.349A>G (p.Ile117Val) c.137A>G (n.137A>G) c.525A>G c.577A>G (p.Ile193Val) c.142A>G (p.Ile48Val) c.484A>G (p.Ile162Val) c.359A>G (n.359A>G) n.566A>G c.127A>G (p.Ile43Val) c.-176A>G (n.-176A>G)
5	g.140695771A>T	CA361198098	HARS2	c.559A>T (p.Ile187Phe) c.337A>T (p.Ile113Phe) c.349A>T (p.Ile117Phe) c.137A>T (n.137A>T) c.525A>T c.577A>T (p.Ile193Phe) c.142A>T (p.Ile48Phe) c.484A>T (p.Ile162Phe) c.359A>T (n.359A>T) n.566A>T c.127A>T (p.Ile43Phe) c.-176A>T (n.-176A>T)
5	g.140695772T>A	CA361198100	HARS2	c.560T>A (p.Ile187Asn) c.338T>A (p.Ile113Asn) c.350T>A (p.Ile117Asn) c.138T>A (n.138T>A) c.526T>A c.578T>A (p.Ile193Asn) c.143T>A (p.Ile48Asn) c.485T>A (p.Ile162Asn) c.360T>A (n.360T>A) n.567T>A c.128T>A (p.Ile43Asn) c.-175T>A (n.-175T>A)
5	g.140695772T>C	CA361198102	HARS2	c.560T>C (p.Ile187Thr) c.338T>C (p.Ile113Thr) c.350T>C (p.Ile117Thr) c.138T>C (n.138T>C) c.526T>C c.578T>C (p.Ile193Thr) c.143T>C (p.Ile48Thr) c.485T>C (p.Ile162Thr) c.360T>C (n.360T>C) n.567T>C c.128T>C (p.Ile43Thr) c.-175T>C (n.-175T>C)
5	g.140695772T>G	CA361198103	HARS2	c.560T>G (p.Ile187Ser) c.338T>G (p.Ile113Ser) c.350T>G (p.Ile117Ser) c.138T>G (n.138T>G) c.526T>G c.578T>G (p.Ile193Ser) c.143T>G (p.Ile48Ser) c.485T>G (p.Ile162Ser) c.360T>G (n.360T>G) n.567T>G c.128T>G (p.Ile43Ser) c.-175T>G (n.-175T>G)
5	g.140695773C>A	CA446804390	HARS2	c.561C>A (p.Ile187=) c.339C>A (p.Ile113=) c.351C>A (p.Ile117=) c.139C>A (n.139C>A) c.527C>A c.579C>A (p.Ile193=) c.144C>A (p.Ile48=) c.486C>A (p.Ile162=) c.361C>A (n.361C>A) n.568C>A c.129C>A (p.Ile43=) c.-174C>A (n.-174C>A)
5	g.140695773C>G	CA361198105	HARS2	c.561C>G (p.Ile187Met) c.339C>G (p.Ile113Met) c.351C>G (p.Ile117Met) c.139C>G (n.139C>G) c.527C>G c.579C>G (p.Ile193Met) c.144C>G (p.Ile48Met) c.486C>G (p.Ile162Met) c.361C>G (n.361C>G) n.568C>G c.129C>G (p.Ile43Met) c.-174C>G (n.-174C>G)
5	g.140695773C>T	CA446804391	HARS2	c.561C>T (p.Ile187=) c.339C>T (p.Ile113=) c.351C>T (p.Ile117=) c.139C>T (n.139C>T) c.527C>T c.579C>T (p.Ile193=) c.144C>T (p.Ile48=) c.486C>T (p.Ile162=) c.361C>T (n.361C>T) n.568C>T c.129C>T (p.Ile43=) c.-174C>T (n.-174C>T)
5	g.140695774C>A	CA361198111	HARS2	c.562C>A (p.Pro188Thr) c.340C>A (p.Pro114Thr) c.352C>A (p.Pro118Thr) c.140C>A (n.140C>A) c.528C>A c.580C>A (p.Pro194Thr) c.145C>A (p.Pro49Thr) c.487C>A (p.Pro163Thr) c.362C>A (n.362C>A) n.569C>A c.130C>A (p.Pro44Thr) c.-173C>A (n.-173C>A)
5	g.140695774C>G	CA361198107	HARS2	c.562C>G (p.Pro188Ala) c.340C>G (p.Pro114Ala) c.352C>G (p.Pro118Ala) c.140C>G (n.140C>G) c.528C>G c.580C>G (p.Pro194Ala) c.145C>G (p.Pro49Ala) c.487C>G (p.Pro163Ala) c.362C>G (n.362C>G) n.569C>G c.130C>G (p.Pro44Ala) c.-173C>G (n.-173C>G)
5	g.140695774C>T	CA361198109	HARS2	c.562C>T (p.Pro188Ser) c.340C>T (p.Pro114Ser) c.352C>T (p.Pro118Ser) c.140C>T (n.140C>T) c.528C>T c.580C>T (p.Pro194Ser) c.145C>T (p.Pro49Ser) c.487C>T (p.Pro163Ser) c.362C>T (n.362C>T) n.569C>T c.130C>T (p.Pro44Ser) c.-173C>T (n.-173C>T)
5	g.140695775C>A	CA361198112	HARS2	c.563C>A (p.Pro188His) c.341C>A (p.Pro114His) c.353C>A (p.Pro118His) c.141C>A (n.141C>A) c.529C>A c.581C>A (p.Pro194His) c.146C>A (p.Pro49His) c.488C>A (p.Pro163His) c.363C>A (n.363C>A) n.570C>A c.131C>A (p.Pro44His) c.-172C>A (n.-172C>A)
5	g.140695775C>G	CA361198114	HARS2	c.563C>G (p.Pro188Arg) c.341C>G (p.Pro114Arg) c.353C>G (p.Pro118Arg) c.141C>G (n.141C>G) c.529C>G c.581C>G (p.Pro194Arg) c.146C>G (p.Pro49Arg) c.488C>G (p.Pro163Arg) c.363C>G (n.363C>G) n.570C>G c.131C>G (p.Pro44Arg) c.-172C>G (n.-172C>G)	gnomAD v4
5	g.140695775C>T	CA361198115	HARS2	c.563C>T (p.Pro188Leu) c.341C>T (p.Pro114Leu) c.353C>T (p.Pro118Leu) c.141C>T (n.141C>T) c.529C>T c.581C>T (p.Pro194Leu) c.146C>T (p.Pro49Leu) c.488C>T (p.Pro163Leu) c.363C>T (n.363C>T) n.570C>T c.131C>T (p.Pro44Leu) c.-172C>T (n.-172C>T)
5	g.140695776C>A	CA446804392	HARS2	c.564C>A (p.Pro188=) c.342C>A (p.Pro114=) c.354C>A (p.Pro118=) c.142C>A (n.142C>A) c.530C>A c.582C>A (p.Pro194=) c.147C>A (p.Pro49=) c.489C>A (p.Pro163=) c.364C>A (n.364C>A) n.571C>A c.132C>A (p.Pro44=) c.-171C>A (n.-171C>A)
5	g.140695776C=	CA1586866815	HARS2	c.564C= (p.Pro188=) c.342C= (p.Pro114=) c.354C= (p.Pro118=) c.142C= (n.142C=) c.530C= c.582C= (p.Pro194=) c.147C= (p.Pro49=) c.489C= (p.Pro163=) c.364C= (n.364C=) n.571C= c.132C= (p.Pro44=) c.-171C= (n.-171C=)
5	g.140695776C>G	CA446804393	HARS2	c.564C>G (p.Pro188=) c.342C>G (p.Pro114=) c.354C>G (p.Pro118=) c.142C>G (n.142C>G) c.530C>G c.582C>G (p.Pro194=) c.147C>G (p.Pro49=) c.489C>G (p.Pro163=) c.364C>G (n.364C>G) n.571C>G c.132C>G (p.Pro44=) c.-171C>G (n.-171C>G)
5	g.140695776C>T	CA3444468	HARS2	c.564C>T (p.Pro188=) c.342C>T (p.Pro114=) c.354C>T (p.Pro118=) c.142C>T (n.142C>T) c.530C>T c.582C>T (p.Pro194=) c.147C>T (p.Pro49=) c.489C>T (p.Pro163=) c.364C>T (n.364C>T) n.571C>T c.132C>T (p.Pro44=) c.-171C>T (n.-171C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5	g.140695777G>A	CA128341930	HARS2	c.565G>A (p.Asp189Asn) c.343G>A (p.Asp115Asn) c.355G>A (p.Asp119Asn) c.143G>A (n.143G>A) c.531G>A c.583G>A (p.Asp195Asn) c.148G>A (p.Asp50Asn) c.490G>A (p.Asp164Asn) c.365G>A (n.365G>A) n.572G>A c.133G>A (p.Asp45Asn) c.-170G>A (n.-170G>A)	dbSNP gnomAD v4
5	g.140695777G>C	CA361198118	HARS2	c.565G>C (p.Asp189His) c.343G>C (p.Asp115His) c.355G>C (p.Asp119His) c.143G>C (n.143G>C) c.531G>C c.583G>C (p.Asp195His) c.148G>C (p.Asp50His) c.490G>C (p.Asp164His) c.365G>C (n.365G>C) n.572G>C c.133G>C (p.Asp45His) c.-170G>C (n.-170G>C)
5	g.140695777G=	CA1586866828	HARS2	c.565G= (p.Asp189=) c.343G= (p.Asp115=) c.355G= (p.Asp119=) c.143G= (n.143G=) c.531G= c.583G= (p.Asp195=) c.148G= (p.Asp50=) c.490G= (p.Asp164=) c.365G= (n.365G=) n.572G= c.133G= (p.Asp45=) c.-170G= (n.-170G=)
5	g.140695777G>T	CA361198119	HARS2	c.565G>T (p.Asp189Tyr) c.343G>T (p.Asp115Tyr) c.355G>T (p.Asp119Tyr) c.143G>T (n.143G>T) c.531G>T c.583G>T (p.Asp195Tyr) c.148G>T (p.Asp50Tyr) c.490G>T (p.Asp164Tyr) c.365G>T (n.365G>T) n.572G>T c.133G>T (p.Asp45Tyr) c.-170G>T (n.-170G>T)
5	g.140695778A>C	CA361198122	HARS2	c.566A>C (p.Asp189Ala) c.344A>C (p.Asp115Ala) c.356A>C (p.Asp119Ala) c.144A>C (n.144A>C) c.532A>C c.584A>C (p.Asp195Ala) c.149A>C (p.Asp50Ala) c.491A>C (p.Asp164Ala) c.366A>C (n.366A>C) n.573A>C c.134A>C (p.Asp45Ala) c.-169A>C (n.-169A>C)
5	g.140695778A>G	CA361198124	HARS2	c.566A>G (p.Asp189Gly) c.344A>G (p.Asp115Gly) c.356A>G (p.Asp119Gly) c.144A>G (n.144A>G) c.532A>G c.584A>G (p.Asp195Gly) c.149A>G (p.Asp50Gly) c.491A>G (p.Asp164Gly) c.366A>G (n.366A>G) n.573A>G c.134A>G (p.Asp45Gly) c.-169A>G (n.-169A>G)	gnomAD v4
5	g.140695778A>T	CA361198125	HARS2	c.566A>T (p.Asp189Val) c.344A>T (p.Asp115Val) c.356A>T (p.Asp119Val) c.144A>T (n.144A>T) c.532A>T c.584A>T (p.Asp195Val) c.149A>T (p.Asp50Val) c.491A>T (p.Asp164Val) c.366A>T (n.366A>T) n.573A>T c.134A>T (p.Asp45Val) c.-169A>T (n.-169A>T)
5	g.140695779T>A	CA361198126	HARS2	c.567T>A (p.Asp189Glu) c.345T>A (p.Asp115Glu) c.357T>A (p.Asp119Glu) c.145T>A (n.145T>A) c.533T>A c.585T>A (p.Asp195Glu) c.150T>A (p.Asp50Glu) c.492T>A (p.Asp164Glu) c.367T>A (n.367T>A) n.574T>A c.135T>A (p.Asp45Glu) c.-168T>A (n.-168T>A)
5	g.140695779T>C	CA446804395	HARS2	c.567T>C (p.Asp189=) c.345T>C (p.Asp115=) c.357T>C (p.Asp119=) c.145T>C (n.145T>C) c.533T>C c.585T>C (p.Asp195=) c.150T>C (p.Asp50=) c.492T>C (p.Asp164=) c.367T>C (n.367T>C) n.574T>C c.135T>C (p.Asp45=) c.-168T>C (n.-168T>C)	gnomAD v4
5	g.140695779T>G	CA361198127	HARS2	c.567T>G (p.Asp189Glu) c.345T>G (p.Asp115Glu) c.357T>G (p.Asp119Glu) c.145T>G (n.145T>G) c.533T>G c.585T>G (p.Asp195Glu) c.150T>G (p.Asp50Glu) c.492T>G (p.Asp164Glu) c.367T>G (n.367T>G) n.574T>G c.135T>G (p.Asp45Glu) c.-168T>G (n.-168T>G)
5	g.140695780G>A	CA361198133	HARS2	c.568G>A (p.Ala190Thr) c.346G>A (p.Ala116Thr) c.358G>A (p.Ala120Thr) c.146G>A (n.146G>A) c.534G>A c.586G>A (p.Ala196Thr) c.151G>A (p.Ala51Thr) c.493G>A (p.Ala165Thr) c.368G>A (n.368G>A) n.575G>A c.136G>A (p.Ala46Thr) c.-167G>A (n.-167G>A)	gnomAD v4
5	g.140695780G>C	CA361198129	HARS2	c.568G>C (p.Ala190Pro) c.346G>C (p.Ala116Pro) c.358G>C (p.Ala120Pro) c.146G>C (n.146G>C) c.534G>C c.586G>C (p.Ala196Pro) c.151G>C (p.Ala51Pro) c.493G>C (p.Ala165Pro) c.368G>C (n.368G>C) n.575G>C c.136G>C (p.Ala46Pro) c.-167G>C (n.-167G>C)
5	g.140695780G>T	CA361198130	HARS2	c.568G>T (p.Ala190Ser) c.346G>T (p.Ala116Ser) c.358G>T (p.Ala120Ser) c.146G>T (n.146G>T) c.534G>T c.586G>T (p.Ala196Ser) c.151G>T (p.Ala51Ser) c.493G>T (p.Ala165Ser) c.368G>T (n.368G>T) n.575G>T c.136G>T (p.Ala46Ser) c.-167G>T (n.-167G>T)
5	g.140695781C>A	CA361198134	HARS2	c.569C>A (p.Ala190Glu) c.347C>A (p.Ala116Glu) c.359C>A (p.Ala120Glu) c.147C>A (n.147C>A) c.535C>A c.587C>A (p.Ala196Glu) c.152C>A (p.Ala51Glu) c.494C>A (p.Ala165Glu) c.369C>A (n.369C>A) n.576C>A c.137C>A (p.Ala46Glu) c.-166C>A (n.-166C>A)
5	g.140695781C>G	CA361198138	HARS2	c.569C>G (p.Ala190Gly) c.347C>G (p.Ala116Gly) c.359C>G (p.Ala120Gly) c.147C>G (n.147C>G) c.535C>G c.587C>G (p.Ala196Gly) c.152C>G (p.Ala51Gly) c.494C>G (p.Ala165Gly) c.369C>G (n.369C>G) n.576C>G c.137C>G (p.Ala46Gly) c.-166C>G (n.-166C>G)
5	g.140695781C>T	CA361198135	HARS2	c.569C>T (p.Ala190Val) c.347C>T (p.Ala116Val) c.359C>T (p.Ala120Val) c.147C>T (n.147C>T) c.535C>T c.587C>T (p.Ala196Val) c.152C>T (p.Ala51Val) c.494C>T (p.Ala165Val) c.369C>T (n.369C>T) n.576C>T c.137C>T (p.Ala46Val) c.-166C>T (n.-166C>T)
5	g.140695781_140695783delinsCAG	CA1586866836	HARS2	c.569_571delinsCAG (p.Ala190=) c.347_349delinsCAG (p.Ala116=) c.359_361delinsCAG (p.Ala120=) c.147_149delinsCAG (n.147_149delinsCAG) c.535_537delinsCAG c.587_589delinsCAG (p.Ala196=) c.152_154delinsCAG (p.Ala51=) c.494_496delinsCAG (p.Ala165=) c.369_371delinsCAG (n.369_371delinsCAG) n.576_578delinsCAG c.137_139delinsCAG (p.Ala46=) c.-166_-164delinsCAG (n.-166_-164delinsCAG)
5	g.140695782A>C	CA446804396	HARS2	c.570A>C (p.Ala190=) c.348A>C (p.Ala116=) c.360A>C (p.Ala120=) c.148A>C (n.148A>C) c.536A>C c.588A>C (p.Ala196=) c.153A>C (p.Ala51=) c.495A>C (p.Ala165=) c.370A>C (n.370A>C) n.577A>C c.138A>C (p.Ala46=) c.-165A>C (n.-165A>C)
5	g.140695782A>G	CA446804397	HARS2	c.570A>G (p.Ala190=) c.348A>G (p.Ala116=) c.360A>G (p.Ala120=) c.148A>G (n.148A>G) c.536A>G c.588A>G (p.Ala196=) c.153A>G (p.Ala51=) c.495A>G (p.Ala165=) c.370A>G (n.370A>G) n.577A>G c.138A>G (p.Ala46=) c.-165A>G (n.-165A>G)
5	g.140695782A>T	CA446804398	HARS2	c.570A>T (p.Ala190=) c.348A>T (p.Ala116=) c.360A>T (p.Ala120=) c.148A>T (n.148A>T) c.536A>T c.588A>T (p.Ala196=) c.153A>T (p.Ala51=) c.495A>T (p.Ala165=) c.370A>T (n.370A>T) n.577A>T c.138A>T (p.Ala46=) c.-165A>T (n.-165A>T)
5	g.140695784_140695785del	CA1586866839	HARS2	c.572_573del (p.Glu191ValfsTer7) c.350_351del (p.Glu117ValfsTer7) c.362_363del (p.Glu121ValfsTer7) c.150_151del (n.150_151del) c.538_539del c.590_591del (p.Glu197ValfsTer7) c.155_156del (p.Glu52ValfsTer7) c.497_498del (p.Glu166ValfsTer7) c.372_373del (n.372_373del) n.579_580del c.140_141del (p.Glu47ValfsTer7) c.-163_-162del (n.-163_-162del)	dbSNP gnomAD v4
5	g.140695783G>A	CA3444469	HARS2	c.571G>A (p.Glu191Lys) c.349G>A (p.Glu117Lys) c.361G>A (p.Glu121Lys) c.149G>A (n.149G>A) c.537G>A c.589G>A (p.Glu197Lys) c.154G>A (p.Glu52Lys) c.496G>A (p.Glu166Lys) c.371G>A (n.371G>A) n.578G>A c.139G>A (p.Glu47Lys) c.-164G>A (n.-164G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.140695783G>C	CA361198140	HARS2	c.571G>C (p.Glu191Gln) c.349G>C (p.Glu117Gln) c.361G>C (p.Glu121Gln) c.149G>C (n.149G>C) c.537G>C c.589G>C (p.Glu197Gln) c.154G>C (p.Glu52Gln) c.496G>C (p.Glu166Gln) c.371G>C (n.371G>C) n.578G>C c.139G>C (p.Glu47Gln) c.-164G>C (n.-164G>C)
5	g.140695783G=	CA1586866842	HARS2	c.571G= (p.Glu191=) c.349G= (p.Glu117=) c.361G= (p.Glu121=) c.149G= (n.149G=) c.537G= c.589G= (p.Glu197=) c.154G= (p.Glu52=) c.496G= (p.Glu166=) c.371G= (n.371G=) n.578G= c.139G= (p.Glu47=) c.-164G= (n.-164G=)
5	g.140695783G>T	CA361198142	HARS2	c.571G>T (p.Glu191Ter) c.349G>T (p.Glu117Ter) c.361G>T (p.Glu121Ter) c.149G>T (n.149G>T) c.537G>T c.589G>T (p.Glu197Ter) c.154G>T (p.Glu52Ter) c.496G>T (p.Glu166Ter) c.371G>T (n.371G>T) n.578G>T c.139G>T (p.Glu47Ter) c.-164G>T (n.-164G>T)
5	g.140695784A>C	CA361198145	HARS2	c.572A>C (p.Glu191Ala) c.350A>C (p.Glu117Ala) c.362A>C (p.Glu121Ala) c.150A>C (n.150A>C) c.538A>C c.590A>C (p.Glu197Ala) c.155A>C (p.Glu52Ala) c.497A>C (p.Glu166Ala) c.372A>C (n.372A>C) n.579A>C c.140A>C (p.Glu47Ala) c.-163A>C (n.-163A>C)
5	g.140695784A>G	CA361198147	HARS2	c.572A>G (p.Glu191Gly) c.350A>G (p.Glu117Gly) c.362A>G (p.Glu121Gly) c.150A>G (n.150A>G) c.538A>G c.590A>G (p.Glu197Gly) c.155A>G (p.Glu52Gly) c.497A>G (p.Glu166Gly) c.372A>G (n.372A>G) n.579A>G c.140A>G (p.Glu47Gly) c.-163A>G (n.-163A>G)
5	g.140695784A>T	CA361198149	HARS2	c.572A>T (p.Glu191Val) c.350A>T (p.Glu117Val) c.362A>T (p.Glu121Val) c.150A>T (n.150A>T) c.538A>T c.590A>T (p.Glu197Val) c.155A>T (p.Glu52Val) c.497A>T (p.Glu166Val) c.372A>T (n.372A>T) n.579A>T c.140A>T (p.Glu47Val) c.-163A>T (n.-163A>T)
5	g.140695785G>A	CA446804402	HARS2	c.573G>A (p.Glu191=) c.351G>A (p.Glu117=) c.363G>A (p.Glu121=) c.151G>A (n.151G>A) c.539G>A c.591G>A (p.Glu197=) c.156G>A (p.Glu52=) c.498G>A (p.Glu166=) c.373G>A (n.373G>A) n.580G>A c.141G>A (p.Glu47=) c.-162G>A (n.-162G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.140695785G>C	CA361198151	HARS2	c.573G>C (p.Glu191Asp) c.351G>C (p.Glu117Asp) c.363G>C (p.Glu121Asp) c.151G>C (n.151G>C) c.539G>C c.591G>C (p.Glu197Asp) c.156G>C (p.Glu52Asp) c.498G>C (p.Glu166Asp) c.373G>C (n.373G>C) n.580G>C c.141G>C (p.Glu47Asp) c.-162G>C (n.-162G>C)
5	g.140695785G=	CA1586866850	HARS2	c.573G= (p.Glu191=) c.351G= (p.Glu117=) c.363G= (p.Glu121=) c.151G= (n.151G=) c.539G= c.591G= (p.Glu197=) c.156G= (p.Glu52=) c.498G= (p.Glu166=) c.373G= (n.373G=) n.580G= c.141G= (p.Glu47=) c.-162G= (n.-162G=)
5	g.140695785G>T	CA361198153	HARS2	c.573G>T (p.Glu191Asp) c.351G>T (p.Glu117Asp) c.363G>T (p.Glu121Asp) c.151G>T (n.151G>T) c.539G>T c.591G>T (p.Glu197Asp) c.156G>T (p.Glu52Asp) c.498G>T (p.Glu166Asp) c.373G>T (n.373G>T) n.580G>T c.141G>T (p.Glu47Asp) c.-162G>T (n.-162G>T)
5	g.140695786T>A	CA361198155	HARS2	c.574T>A (p.Cys192Ser) c.352T>A (p.Cys118Ser) c.364T>A (p.Cys122Ser) c.152T>A (n.152T>A) c.540T>A c.592T>A (p.Cys198Ser) c.157T>A (p.Cys53Ser) c.499T>A (p.Cys167Ser) c.374T>A (n.374T>A) n.581T>A c.142T>A (p.Cys48Ser) c.-161T>A (n.-161T>A)
5	g.140695786T>C	CA361198157	HARS2	c.574T>C (p.Cys192Arg) c.352T>C (p.Cys118Arg) c.364T>C (p.Cys122Arg) c.152T>C (n.152T>C) c.540T>C c.592T>C (p.Cys198Arg) c.157T>C (p.Cys53Arg) c.499T>C (p.Cys167Arg) c.374T>C (n.374T>C) n.581T>C c.142T>C (p.Cys48Arg) c.-161T>C (n.-161T>C)	gnomAD v4
5	g.140695786T>G	CA361198158	HARS2	c.574T>G (p.Cys192Gly) c.352T>G (p.Cys118Gly) c.364T>G (p.Cys122Gly) c.152T>G (n.152T>G) c.540T>G c.592T>G (p.Cys198Gly) c.157T>G (p.Cys53Gly) c.499T>G (p.Cys167Gly) c.374T>G (n.374T>G) n.581T>G c.142T>G (p.Cys48Gly) c.-161T>G (n.-161T>G)
5	g.140695787G>A	CA361198164	HARS2	c.575G>A (p.Cys192Tyr) c.353G>A (p.Cys118Tyr) c.365G>A (p.Cys122Tyr) c.153G>A (n.153G>A) c.541G>A c.593G>A (p.Cys198Tyr) c.158G>A (p.Cys53Tyr) c.500G>A (p.Cys167Tyr) c.375G>A (n.375G>A) n.582G>A c.143G>A (p.Cys48Tyr) c.-160G>A (n.-160G>A)
5	g.140695787G>C	CA361198162	HARS2	c.575G>C (p.Cys192Ser) c.353G>C (p.Cys118Ser) c.365G>C (p.Cys122Ser) c.153G>C (n.153G>C) c.541G>C c.593G>C (p.Cys198Ser) c.158G>C (p.Cys53Ser) c.500G>C (p.Cys167Ser) c.375G>C (n.375G>C) n.582G>C c.143G>C (p.Cys48Ser) c.-160G>C (n.-160G>C)
5	g.140695787G>T	CA361198160	HARS2	c.575G>T (p.Cys192Phe) c.353G>T (p.Cys118Phe) c.365G>T (p.Cys122Phe) c.153G>T (n.153G>T) c.541G>T c.593G>T (p.Cys198Phe) c.158G>T (p.Cys53Phe) c.500G>T (p.Cys167Phe) c.375G>T (n.375G>T) n.582G>T c.143G>T (p.Cys48Phe) c.-160G>T (n.-160G>T)
5	g.140695788T>A	CA361198166	HARS2	c.576T>A (p.Cys192Ter) c.354T>A (p.Cys118Ter) c.366T>A (p.Cys122Ter) c.154T>A (n.154T>A) c.542T>A c.594T>A (p.Cys198Ter) c.159T>A (p.Cys53Ter) c.501T>A (p.Cys167Ter) c.376T>A (n.376T>A) n.583T>A c.144T>A (p.Cys48Ter) c.-159T>A (n.-159T>A)
5	g.140695788T>C	CA446804403	HARS2	c.576T>C (p.Cys192=) c.354T>C (p.Cys118=) c.366T>C (p.Cys122=) c.154T>C (n.154T>C) c.542T>C c.594T>C (p.Cys198=) c.159T>C (p.Cys53=) c.501T>C (p.Cys167=) c.376T>C (n.376T>C) n.583T>C c.144T>C (p.Cys48=) c.-159T>C (n.-159T>C)
5	g.140695788T>G	CA361198168	HARS2	c.576T>G (p.Cys192Trp) c.354T>G (p.Cys118Trp) c.366T>G (p.Cys122Trp) c.154T>G (n.154T>G) c.542T>G c.594T>G (p.Cys198Trp) c.159T>G (p.Cys53Trp) c.501T>G (p.Cys167Trp) c.376T>G (n.376T>G) n.583T>G c.144T>G (p.Cys48Trp) c.-159T>G (n.-159T>G)	dbSNP gnomAD v2 gnomAD v4
5	g.140695788T=	CA1586866863	HARS2	c.576T= (p.Cys192=) c.354T= (p.Cys118=) c.366T= (p.Cys122=) c.154T= (n.154T=) c.542T= c.594T= (p.Cys198=) c.159T= (p.Cys53=) c.501T= (p.Cys167=) c.376T= (n.376T=) n.583T= c.144T= (p.Cys48=) c.-159T= (n.-159T=)
5	g.140695789T>A	CA361198170	HARS2	c.577T>A (p.Leu193Met) c.355T>A (p.Leu119Met) c.367T>A (p.Leu123Met) c.155T>A (n.155T>A) c.543T>A c.595T>A (p.Leu199Met) c.160T>A (p.Leu54Met) c.502T>A (p.Leu168Met) c.377T>A (n.377T>A) n.584T>A c.145T>A (p.Leu49Met) c.-158T>A (n.-158T>A)
5	g.140695789T>C	CA446804404	HARS2	c.577T>C (p.Leu193=) c.355T>C (p.Leu119=) c.367T>C (p.Leu123=) c.155T>C (n.155T>C) c.543T>C c.595T>C (p.Leu199=) c.160T>C (p.Leu54=) c.502T>C (p.Leu168=) c.377T>C (n.377T>C) n.584T>C c.145T>C (p.Leu49=) c.-158T>C (n.-158T>C)
5	g.140695789T>G	CA361198172	HARS2	c.577T>G (p.Leu193Val) c.355T>G (p.Leu119Val) c.367T>G (p.Leu123Val) c.155T>G (n.155T>G) c.543T>G c.595T>G (p.Leu199Val) c.160T>G (p.Leu54Val) c.502T>G (p.Leu168Val) c.377T>G (n.377T>G) n.584T>G c.145T>G (p.Leu49Val) c.-158T>G (n.-158T>G)
5	g.140695790T>A	CA361198174	HARS2	c.578T>A (p.Leu193Ter) c.356T>A (p.Leu119Ter) c.368T>A (p.Leu123Ter) c.156T>A (n.156T>A) c.544T>A c.596T>A (p.Leu199Ter) c.161T>A (p.Leu54Ter) c.503T>A (p.Leu168Ter) c.378T>A (n.378T>A) n.585T>A c.146T>A (p.Leu49Ter) c.-157T>A (n.-157T>A)
5	g.140695790T>C	CA361198176	HARS2	c.578T>C (p.Leu193Ser) c.356T>C (p.Leu119Ser) c.368T>C (p.Leu123Ser) c.156T>C (n.156T>C) c.544T>C c.596T>C (p.Leu199Ser) c.161T>C (p.Leu54Ser) c.503T>C (p.Leu168Ser) c.378T>C (n.378T>C) n.585T>C c.146T>C (p.Leu49Ser) c.-157T>C (n.-157T>C)
5	g.140695790T>G	CA361198177	HARS2	c.578T>G (p.Leu193Trp) c.356T>G (p.Leu119Trp) c.368T>G (p.Leu123Trp) c.156T>G (n.156T>G) c.544T>G c.596T>G (p.Leu199Trp) c.161T>G (p.Leu54Trp) c.503T>G (p.Leu168Trp) c.378T>G (n.378T>G) n.585T>G c.146T>G (p.Leu49Trp) c.-157T>G (n.-157T>G)
5	g.140695791G>A	CA446804405	HARS2	c.579G>A (p.Leu193=) c.357G>A (p.Leu119=) c.369G>A (p.Leu123=) c.157G>A (n.157G>A) c.545G>A c.597G>A (p.Leu199=) c.162G>A (p.Leu54=) c.504G>A (p.Leu168=) c.379G>A (n.379G>A) n.586G>A c.147G>A (p.Leu49=) c.-156G>A (n.-156G>A)
5	g.140695791G>C	CA361198178	HARS2	c.579G>C (p.Leu193Phe) c.357G>C (p.Leu119Phe) c.369G>C (p.Leu123Phe) c.157G>C (n.157G>C) c.545G>C c.597G>C (p.Leu199Phe) c.162G>C (p.Leu54Phe) c.504G>C (p.Leu168Phe) c.379G>C (n.379G>C) n.586G>C c.147G>C (p.Leu49Phe) c.-156G>C (n.-156G>C)
5	g.140695791G>T	CA361198180	HARS2	c.579G>T (p.Leu193Phe) c.357G>T (p.Leu119Phe) c.369G>T (p.Leu123Phe) c.157G>T (n.157G>T) c.545G>T c.597G>T (p.Leu199Phe) c.162G>T (p.Leu54Phe) c.504G>T (p.Leu168Phe) c.379G>T (n.379G>T) n.586G>T c.147G>T (p.Leu49Phe) c.-156G>T (n.-156G>T)
5	g.140695792A>C	CA361198182	HARS2	c.580A>C (p.Lys194Gln) c.358A>C (p.Lys120Gln) c.370A>C (p.Lys124Gln) c.158A>C (n.158A>C) c.546A>C c.598A>C (p.Lys200Gln) c.163A>C (p.Lys55Gln) c.505A>C (p.Lys169Gln) c.380A>C (n.380A>C) n.587A>C c.148A>C (p.Lys50Gln) c.-155A>C (n.-155A>C)
5	g.140695792A>G	CA361198190	HARS2	c.580A>G (p.Lys194Glu) c.358A>G (p.Lys120Glu) c.370A>G (p.Lys124Glu) c.158A>G (n.158A>G) c.546A>G c.598A>G (p.Lys200Glu) c.163A>G (p.Lys55Glu) c.505A>G (p.Lys169Glu) c.380A>G (n.380A>G) n.587A>G c.148A>G (p.Lys50Glu) c.-155A>G (n.-155A>G)
5	g.140695792A>T	CA361198192	HARS2	c.580A>T (p.Lys194Ter) c.358A>T (p.Lys120Ter) c.370A>T (p.Lys124Ter) c.158A>T (n.158A>T) c.546A>T c.598A>T (p.Lys200Ter) c.163A>T (p.Lys55Ter) c.505A>T (p.Lys169Ter) c.380A>T (n.380A>T) n.587A>T c.148A>T (p.Lys50Ter) c.-155A>T (n.-155A>T)
5	g.140695793del	CA2675626040	HARS2	c.581del (p.Lys194ArgfsTer7) c.359del (p.Lys120ArgfsTer7) c.371del (p.Lys124ArgfsTer7) c.159del (n.159del) c.547del c.599del (p.Lys200ArgfsTer7) c.164del (p.Lys55ArgfsTer7) c.506del (p.Lys169ArgfsTer7) c.381del (n.381del) n.588del c.149del (p.Lys50ArgfsTer7) c.-154del (n.-154del)	gnomAD v4
5	g.140695793A>C	CA361198201	HARS2	c.581A>C (p.Lys194Thr) c.359A>C (p.Lys120Thr) c.371A>C (p.Lys124Thr) c.159A>C (n.159A>C) c.547A>C c.599A>C (p.Lys200Thr) c.164A>C (p.Lys55Thr) c.506A>C (p.Lys169Thr) c.381A>C (n.381A>C) n.588A>C c.149A>C (p.Lys50Thr) c.-154A>C (n.-154A>C)
5	g.140695793A>G	CA361198198	HARS2	c.581A>G (p.Lys194Arg) c.359A>G (p.Lys120Arg) c.371A>G (p.Lys124Arg) c.159A>G (n.159A>G) c.547A>G c.599A>G (p.Lys200Arg) c.164A>G (p.Lys55Arg) c.506A>G (p.Lys169Arg) c.381A>G (n.381A>G) n.588A>G c.149A>G (p.Lys50Arg) c.-154A>G (n.-154A>G)
5	g.140695793A>T	CA361198197	HARS2	c.581A>T (p.Lys194Met) c.359A>T (p.Lys120Met) c.371A>T (p.Lys124Met) c.159A>T (n.159A>T) c.547A>T c.599A>T (p.Lys200Met) c.164A>T (p.Lys55Met) c.506A>T (p.Lys169Met) c.381A>T (n.381A>T) n.588A>T c.149A>T (p.Lys50Met) c.-154A>T (n.-154A>T)
5	g.140695794G>A	CA446804406	HARS2	c.582G>A (p.Lys194=) c.360G>A (p.Lys120=) c.372G>A (p.Lys124=) c.160G>A (n.160G>A) c.548G>A c.600G>A (p.Lys200=) c.165G>A (p.Lys55=) c.507G>A (p.Lys169=) c.382G>A (n.382G>A) n.589G>A c.150G>A (p.Lys50=) c.-153G>A (n.-153G>A)
5	g.140695794G>C	CA361198204	HARS2	c.582G>C (p.Lys194Asn) c.360G>C (p.Lys120Asn) c.372G>C (p.Lys124Asn) c.160G>C (n.160G>C) c.548G>C c.600G>C (p.Lys200Asn) c.165G>C (p.Lys55Asn) c.507G>C (p.Lys169Asn) c.382G>C (n.382G>C) n.589G>C c.150G>C (p.Lys50Asn) c.-153G>C (n.-153G>C)
5	g.140695794G>T	CA361198203	HARS2	c.582G>T (p.Lys194Asn) c.360G>T (p.Lys120Asn) c.372G>T (p.Lys124Asn) c.160G>T (n.160G>T) c.548G>T c.600G>T (p.Lys200Asn) c.165G>T (p.Lys55Asn) c.507G>T (p.Lys169Asn) c.382G>T (n.382G>T) n.589G>T c.150G>T (p.Lys50Asn) c.-153G>T (n.-153G>T)
5	g.140695795A>C	CA361198205	HARS2	c.583A>C (p.Ile195Leu) c.361A>C (p.Ile121Leu) c.373A>C (p.Ile125Leu) c.161A>C (n.161A>C) c.549A>C c.601A>C (p.Ile201Leu) c.166A>C (p.Ile56Leu) c.508A>C (p.Ile170Leu) c.383A>C (n.383A>C) n.590A>C c.151A>C (p.Ile51Leu) c.-152A>C (n.-152A>C)
5	g.140695795A>G	CA361198206	HARS2	c.583A>G (p.Ile195Val) c.361A>G (p.Ile121Val) c.373A>G (p.Ile125Val) c.161A>G (n.161A>G) c.549A>G c.601A>G (p.Ile201Val) c.166A>G (p.Ile56Val) c.508A>G (p.Ile170Val) c.383A>G (n.383A>G) n.590A>G c.151A>G (p.Ile51Val) c.-152A>G (n.-152A>G)
5	g.140695795A>T	CA361198209	HARS2	c.583A>T (p.Ile195Phe) c.361A>T (p.Ile121Phe) c.373A>T (p.Ile125Phe) c.161A>T (n.161A>T) c.549A>T c.601A>T (p.Ile201Phe) c.166A>T (p.Ile56Phe) c.508A>T (p.Ile170Phe) c.383A>T (n.383A>T) n.590A>T c.151A>T (p.Ile51Phe) c.-152A>T (n.-152A>T)
5	g.140695796T>A	CA361198211	HARS2	c.584T>A (p.Ile195Asn) c.362T>A (p.Ile121Asn) c.374T>A (p.Ile125Asn) c.162T>A (n.162T>A) c.550T>A c.602T>A (p.Ile201Asn) c.167T>A (p.Ile56Asn) c.509T>A (p.Ile170Asn) c.384T>A (n.384T>A) n.591T>A c.152T>A (p.Ile51Asn) c.-151T>A (n.-151T>A)
5	g.140695796T>C	CA361198212	HARS2	c.584T>C (p.Ile195Thr) c.362T>C (p.Ile121Thr) c.374T>C (p.Ile125Thr) c.162T>C (n.162T>C) c.550T>C c.602T>C (p.Ile201Thr) c.167T>C (p.Ile56Thr) c.509T>C (p.Ile170Thr) c.384T>C (n.384T>C) n.591T>C c.152T>C (p.Ile51Thr) c.-151T>C (n.-151T>C)
5	g.140695796T>G	CA361198214	HARS2	c.584T>G (p.Ile195Ser) c.362T>G (p.Ile121Ser) c.374T>G (p.Ile125Ser) c.162T>G (n.162T>G) c.550T>G c.602T>G (p.Ile201Ser) c.167T>G (p.Ile56Ser) c.509T>G (p.Ile170Ser) c.384T>G (n.384T>G) n.591T>G c.152T>G (p.Ile51Ser) c.-151T>G (n.-151T>G)
5	g.140695797C>A	CA446804407	HARS2	c.585C>A (p.Ile195=) c.363C>A (p.Ile121=) c.375C>A (p.Ile125=) c.163C>A (n.163C>A) c.551C>A c.603C>A (p.Ile201=) c.168C>A (p.Ile56=) c.510C>A (p.Ile170=) c.385C>A (n.385C>A) n.592C>A c.153C>A (p.Ile51=) c.-150C>A (n.-150C>A)
5	g.140695797C=	CA1586866870	HARS2	c.585C= (p.Ile195=) c.363C= (p.Ile121=) c.375C= (p.Ile125=) c.163C= (n.163C=) c.551C= c.603C= (p.Ile201=) c.168C= (p.Ile56=) c.510C= (p.Ile170=) c.385C= (n.385C=) n.592C= c.153C= (p.Ile51=) c.-150C= (n.-150C=)
5	g.140695797C>G	CA361198216	HARS2	c.585C>G (p.Ile195Met) c.363C>G (p.Ile121Met) c.375C>G (p.Ile125Met) c.163C>G (n.163C>G) c.551C>G c.603C>G (p.Ile201Met) c.168C>G (p.Ile56Met) c.510C>G (p.Ile170Met) c.385C>G (n.385C>G) n.592C>G c.153C>G (p.Ile51Met) c.-150C>G (n.-150C>G)
5	g.140695797C>T	CA446804408	HARS2	c.585C>T (p.Ile195=) c.363C>T (p.Ile121=) c.375C>T (p.Ile125=) c.163C>T (n.163C>T) c.551C>T c.603C>T (p.Ile201=) c.168C>T (p.Ile56=) c.510C>T (p.Ile170=) c.385C>T (n.385C>T) n.592C>T c.153C>T (p.Ile51=) c.-150C>T (n.-150C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.140695797_140695799delinsCAT	CA1586866871	HARS2	c.585_587delinsCAT (p.Ile195=) c.363_365delinsCAT (p.Ile121=) c.375_377delinsCAT (p.Ile125=) c.163_165delinsCAT (n.163_165delinsCAT) c.551_553delinsCAT c.603_605delinsCAT (p.Ile201=) c.168_170delinsCAT (p.Ile56=) c.510_512delinsCAT (p.Ile170=) c.385_387delinsCAT (n.385_387delinsCAT) n.592_594delinsCAT c.153_155delinsCAT (p.Ile51=) c.-150_-148delinsCAT (n.-150_-148delinsCAT)
5	g.140695798A=	CA1586866881	HARS2	c.586A= (p.Met196=) c.364A= (p.Met122=) c.376A= (p.Met126=) c.164A= (n.164A=) c.552A= c.604A= (p.Met202=) c.169A= (p.Met57=) c.511A= (p.Met171=) c.386A= (n.386A=) n.593A= c.154A= (p.Met52=) c.-149A= (n.-149A=)
5	g.140695798A>C	CA3444470	HARS2	c.586A>C (p.Met196Leu) c.364A>C (p.Met122Leu) c.376A>C (p.Met126Leu) c.164A>C (n.164A>C) c.552A>C c.604A>C (p.Met202Leu) c.169A>C (p.Met57Leu) c.511A>C (p.Met171Leu) c.386A>C (n.386A>C) n.593A>C c.154A>C (p.Met52Leu) c.-149A>C (n.-149A>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.140695798A>G	CA361198217	HARS2	c.586A>G (p.Met196Val) c.364A>G (p.Met122Val) c.376A>G (p.Met126Val) c.164A>G (n.164A>G) c.552A>G c.604A>G (p.Met202Val) c.169A>G (p.Met57Val) c.511A>G (p.Met171Val) c.386A>G (n.386A>G) n.593A>G c.154A>G (p.Met52Val) c.-149A>G (n.-149A>G)	gnomAD v4
5	g.140695798A>T	CA361198220	HARS2	c.586A>T (p.Met196Leu) c.364A>T (p.Met122Leu) c.376A>T (p.Met126Leu) c.164A>T (n.164A>T) c.552A>T c.604A>T (p.Met202Leu) c.169A>T (p.Met57Leu) c.511A>T (p.Met171Leu) c.386A>T (n.386A>T) n.593A>T c.154A>T (p.Met52Leu) c.-149A>T (n.-149A>T)
5	g.140695798_140695799del	CA1082227509	HARS2	c.586_587del (p.Met196ValfsTer2) c.364_365del (p.Met122ValfsTer2) c.376_377del (p.Met126ValfsTer2) c.164_165del (n.164_165del) c.552_553del c.604_605del (p.Met202ValfsTer2) c.169_170del (p.Met57ValfsTer2) c.511_512del (p.Met171ValfsTer2) c.386_387del (n.386_387del) n.593_594del c.154_155del (p.Met52ValfsTer2) c.-149_-148del (n.-149_-148del)	dbSNP gnomAD v3 gnomAD v4
5	g.140695799T>A	CA361198222	HARS2	c.587T>A (p.Met196Lys) c.365T>A (p.Met122Lys) c.377T>A (p.Met126Lys) c.165T>A (n.165T>A) c.553T>A c.605T>A (p.Met202Lys) c.170T>A (p.Met57Lys) c.512T>A (p.Met171Lys) c.387T>A (n.387T>A) n.594T>A c.155T>A (p.Met52Lys) c.-148T>A (n.-148T>A)
5	g.140695799T>C	CA3444471	HARS2	c.587T>C (p.Met196Thr) c.365T>C (p.Met122Thr) c.377T>C (p.Met126Thr) c.165T>C (n.165T>C) c.553T>C c.605T>C (p.Met202Thr) c.170T>C (p.Met57Thr) c.512T>C (p.Met171Thr) c.387T>C (n.387T>C) n.594T>C c.155T>C (p.Met52Thr) c.-148T>C (n.-148T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5	g.140695799T>G	CA361198223	HARS2	c.587T>G (p.Met196Arg) c.365T>G (p.Met122Arg) c.377T>G (p.Met126Arg) c.165T>G (n.165T>G) c.553T>G c.605T>G (p.Met202Arg) c.170T>G (p.Met57Arg) c.512T>G (p.Met171Arg) c.387T>G (n.387T>G) n.594T>G c.155T>G (p.Met52Arg) c.-148T>G (n.-148T>G)
5	g.140695799T=	CA1586866884	HARS2	c.587T= (p.Met196=) c.365T= (p.Met122=) c.377T= (p.Met126=) c.165T= (n.165T=) c.553T= c.605T= (p.Met202=) c.170T= (p.Met57=) c.512T= (p.Met171=) c.387T= (n.387T=) n.594T= c.155T= (p.Met52=) c.-148T= (n.-148T=)
5	g.140695800G>A	CA361198226	HARS2	c.588G>A (p.Met196Ile) c.366G>A (p.Met122Ile) c.378G>A (p.Met126Ile) c.166G>A (n.166G>A) c.554G>A c.606G>A (p.Met202Ile) c.171G>A (p.Met57Ile) c.513G>A (p.Met171Ile) c.388G>A (n.388G>A) n.595G>A c.156G>A (p.Met52Ile) c.-147G>A (n.-147G>A)	dbSNP gnomAD v3 gnomAD v4
5	g.140695800G>C	CA3444472	HARS2	c.588G>C (p.Met196Ile) c.366G>C (p.Met122Ile) c.378G>C (p.Met126Ile) c.166G>C (n.166G>C) c.554G>C c.606G>C (p.Met202Ile) c.171G>C (p.Met57Ile) c.513G>C (p.Met171Ile) c.388G>C (n.388G>C) n.595G>C c.156G>C (p.Met52Ile) c.-147G>C (n.-147G>C)	dbSNP ExAC gnomAD v2
5	g.140695800G=	CA1586866892	HARS2	c.588G= (p.Met196=) c.366G= (p.Met122=) c.378G= (p.Met126=) c.166G= (n.166G=) c.554G= c.606G= (p.Met202=) c.171G= (p.Met57=) c.513G= (p.Met171=) c.388G= (n.388G=) n.595G= c.156G= (p.Met52=) c.-147G= (n.-147G=)
5	g.140695800G>T	CA361198228	HARS2	c.588G>T (p.Met196Ile) c.366G>T (p.Met122Ile) c.378G>T (p.Met126Ile) c.166G>T (n.166G>T) c.554G>T c.606G>T (p.Met202Ile) c.171G>T (p.Met57Ile) c.513G>T (p.Met171Ile) c.388G>T (n.388G>T) n.595G>T c.156G>T (p.Met52Ile) c.-147G>T (n.-147G>T)	gnomAD v4
5	g.140695801T>A	CA361198231	HARS2	c.589T>A (p.Cys197Ser) c.367T>A (p.Cys123Ser) c.379T>A (p.Cys127Ser) c.167T>A (n.167T>A) c.555T>A c.607T>A (p.Cys203Ser) c.172T>A (p.Cys58Ser) c.514T>A (p.Cys172Ser) c.389T>A (n.389T>A) n.596T>A c.157T>A (p.Cys53Ser) c.-146T>A (n.-146T>A)
5	g.140695801T>C	CA361198233	HARS2	c.589T>C (p.Cys197Arg) c.367T>C (p.Cys123Arg) c.379T>C (p.Cys127Arg) c.167T>C (n.167T>C) c.555T>C c.607T>C (p.Cys203Arg) c.172T>C (p.Cys58Arg) c.514T>C (p.Cys172Arg) c.389T>C (n.389T>C) n.596T>C c.157T>C (p.Cys53Arg) c.-146T>C (n.-146T>C)
5	g.140695801T>G	CA361198235	HARS2	c.589T>G (p.Cys197Gly) c.367T>G (p.Cys123Gly) c.379T>G (p.Cys127Gly) c.167T>G (n.167T>G) c.555T>G c.607T>G (p.Cys203Gly) c.172T>G (p.Cys58Gly) c.514T>G (p.Cys172Gly) c.389T>G (n.389T>G) n.596T>G c.157T>G (p.Cys53Gly) c.-146T>G (n.-146T>G)	dbSNP gnomAD v3 gnomAD v4
5	g.140695801T=	CA1586866896	HARS2	c.589T= (p.Cys197=) c.367T= (p.Cys123=) c.379T= (p.Cys127=) c.167T= (n.167T=) c.555T= c.607T= (p.Cys203=) c.172T= (p.Cys58=) c.514T= (p.Cys172=) c.389T= (n.389T=) n.596T= c.157T= (p.Cys53=) c.-146T= (n.-146T=)
5	g.140695802G>A	CA361198237	HARS2	c.590G>A (p.Cys197Tyr) c.368G>A (p.Cys123Tyr) c.380G>A (p.Cys127Tyr) c.168G>A (n.168G>A) c.556G>A c.608G>A (p.Cys203Tyr) c.173G>A (p.Cys58Tyr) c.515G>A (p.Cys172Tyr) c.390G>A (n.390G>A) n.597G>A c.158G>A (p.Cys53Tyr) c.-145G>A (n.-145G>A)	dbSNP
5	g.140695802G>C	CA361198238	HARS2	c.590G>C (p.Cys197Ser) c.368G>C (p.Cys123Ser) c.380G>C (p.Cys127Ser) c.168G>C (n.168G>C) c.556G>C c.608G>C (p.Cys203Ser) c.173G>C (p.Cys58Ser) c.515G>C (p.Cys172Ser) c.390G>C (n.390G>C) n.597G>C c.158G>C (p.Cys53Ser) c.-145G>C (n.-145G>C)
5	g.140695802G>T	CA361198240	HARS2	c.590G>T (p.Cys197Phe) c.368G>T (p.Cys123Phe) c.380G>T (p.Cys127Phe) c.168G>T (n.168G>T) c.556G>T c.608G>T (p.Cys203Phe) c.173G>T (p.Cys58Phe) c.515G>T (p.Cys172Phe) c.390G>T (n.390G>T) n.597G>T c.158G>T (p.Cys53Phe) c.-145G>T (n.-145G>T)
5	g.140695803T>A	CA361198242	HARS2	c.591T>A (p.Cys197Ter) c.369T>A (p.Cys123Ter) c.381T>A (p.Cys127Ter) c.169T>A (n.169T>A) c.557T>A c.609T>A (p.Cys203Ter) c.174T>A (p.Cys58Ter) c.516T>A (p.Cys172Ter) c.391T>A (n.391T>A) n.598T>A c.159T>A (p.Cys53Ter) c.-144T>A (n.-144T>A)
5	g.140695803T>C	CA446804413	HARS2	c.591T>C (p.Cys197=) c.369T>C (p.Cys123=) c.381T>C (p.Cys127=) c.169T>C (n.169T>C) c.557T>C c.609T>C (p.Cys203=) c.174T>C (p.Cys58=) c.516T>C (p.Cys172=) c.391T>C (n.391T>C) n.598T>C c.159T>C (p.Cys53=) c.-144T>C (n.-144T>C)
5	g.140695803T>G	CA361198243	HARS2	c.591T>G (p.Cys197Trp) c.369T>G (p.Cys123Trp) c.381T>G (p.Cys127Trp) c.169T>G (n.169T>G) c.557T>G c.609T>G (p.Cys203Trp) c.174T>G (p.Cys58Trp) c.516T>G (p.Cys172Trp) c.391T>G (n.391T>G) n.598T>G c.159T>G (p.Cys53Trp) c.-144T>G (n.-144T>G)
5	g.140695804G>A	CA361198245	HARS2	c.592G>A (p.Glu198Lys) c.370G>A (p.Glu124Lys) c.382G>A (p.Glu128Lys) c.170G>A (n.170G>A) c.558G>A c.610G>A (p.Glu204Lys) c.175G>A (p.Glu59Lys) c.517G>A (p.Glu173Lys) c.392G>A (n.392G>A) n.599G>A c.160G>A (p.Glu54Lys) c.-143G>A (n.-143G>A)
5	g.140695804G>C	CA361198247	HARS2	c.592G>C (p.Glu198Gln) c.370G>C (p.Glu124Gln) c.382G>C (p.Glu128Gln) c.170G>C (n.170G>C) c.558G>C c.610G>C (p.Glu204Gln) c.175G>C (p.Glu59Gln) c.517G>C (p.Glu173Gln) c.392G>C (n.392G>C) n.599G>C c.160G>C (p.Glu54Gln) c.-143G>C (n.-143G>C)
5	g.140695804G>T	CA361198249	HARS2	c.592G>T (p.Glu198Ter) c.370G>T (p.Glu124Ter) c.382G>T (p.Glu128Ter) c.170G>T (n.170G>T) c.558G>T c.610G>T (p.Glu204Ter) c.175G>T (p.Glu59Ter) c.517G>T (p.Glu173Ter) c.392G>T (n.392G>T) n.599G>T c.160G>T (p.Glu54Ter) c.-143G>T (n.-143G>T)
5	g.140695805A>C	CA361198253	HARS2	c.593A>C (p.Glu198Ala) c.371A>C (p.Glu124Ala) c.383A>C (p.Glu128Ala) c.171A>C (n.171A>C) c.559A>C c.611A>C (p.Glu204Ala) c.176A>C (p.Glu59Ala) c.518A>C (p.Glu173Ala) c.393A>C (n.393A>C) n.600A>C c.161A>C (p.Glu54Ala) c.-142A>C (n.-142A>C)
5	g.140695805A>G	CA361198255	HARS2	c.593A>G (p.Glu198Gly) c.371A>G (p.Glu124Gly) c.383A>G (p.Glu128Gly) c.171A>G (n.171A>G) c.559A>G c.611A>G (p.Glu204Gly) c.176A>G (p.Glu59Gly) c.518A>G (p.Glu173Gly) c.393A>G (n.393A>G) n.600A>G c.161A>G (p.Glu54Gly) c.-142A>G (n.-142A>G)
5	g.140695805A>T	CA361198251	HARS2	c.593A>T (p.Glu198Val) c.371A>T (p.Glu124Val) c.383A>T (p.Glu128Val) c.171A>T (n.171A>T) c.559A>T c.611A>T (p.Glu204Val) c.176A>T (p.Glu59Val) c.518A>T (p.Glu173Val) c.393A>T (n.393A>T) n.600A>T c.161A>T (p.Glu54Val) c.-142A>T (n.-142A>T)
5	g.140695806A>C	CA361198257	HARS2	c.594A>C (p.Glu198Asp) c.372A>C (p.Glu124Asp) c.384A>C (p.Glu128Asp) c.172A>C (n.172A>C) c.560A>C c.612A>C (p.Glu204Asp) c.177A>C (p.Glu59Asp) c.519A>C (p.Glu173Asp) c.394A>C (n.394A>C) n.601A>C c.162A>C (p.Glu54Asp) c.-141A>C (n.-141A>C)
5	g.140695806A>G	CA446804415	HARS2	c.594A>G (p.Glu198=) c.372A>G (p.Glu124=) c.384A>G (p.Glu128=) c.172A>G (n.172A>G) c.560A>G c.612A>G (p.Glu204=) c.177A>G (p.Glu59=) c.519A>G (p.Glu173=) c.394A>G (n.394A>G) n.601A>G c.162A>G (p.Glu54=) c.-141A>G (n.-141A>G)
5	g.140695806A>T	CA361198258	HARS2	c.594A>T (p.Glu198Asp) c.372A>T (p.Glu124Asp) c.384A>T (p.Glu128Asp) c.172A>T (n.172A>T) c.560A>T c.612A>T (p.Glu204Asp) c.177A>T (p.Glu59Asp) c.519A>T (p.Glu173Asp) c.394A>T (n.394A>T) n.601A>T c.162A>T (p.Glu54Asp) c.-141A>T (n.-141A>T)
5	g.140695807A=	CA1586866897	HARS2	c.595A= (p.Ile199=) c.373A= (p.Ile125=) c.385A= (p.Ile129=) c.173A= (n.173A=) c.561A= c.613A= (p.Ile205=) c.178A= (p.Ile60=) c.520A= (p.Ile174=) c.395A= (n.395A=) n.602A= c.163A= (p.Ile55=) c.-140A= (n.-140A=)
5	g.140695807A>C	CA361198260	HARS2	c.595A>C (p.Ile199Leu) c.373A>C (p.Ile125Leu) c.385A>C (p.Ile129Leu) c.173A>C (n.173A>C) c.561A>C c.613A>C (p.Ile205Leu) c.178A>C (p.Ile60Leu) c.520A>C (p.Ile174Leu) c.395A>C (n.395A>C) n.602A>C c.163A>C (p.Ile55Leu) c.-140A>C (n.-140A>C)
5	g.140695807A>G	CA361198262	HARS2	c.595A>G (p.Ile199Val) c.373A>G (p.Ile125Val) c.385A>G (p.Ile129Val) c.173A>G (n.173A>G) c.561A>G c.613A>G (p.Ile205Val) c.178A>G (p.Ile60Val) c.520A>G (p.Ile174Val) c.395A>G (n.395A>G) n.602A>G c.163A>G (p.Ile55Val) c.-140A>G (n.-140A>G)	dbSNP
5	g.140695807A>T	CA361198263	HARS2	c.595A>T (p.Ile199Phe) c.373A>T (p.Ile125Phe) c.385A>T (p.Ile129Phe) c.173A>T (n.173A>T) c.561A>T c.613A>T (p.Ile205Phe) c.178A>T (p.Ile60Phe) c.520A>T (p.Ile174Phe) c.395A>T (n.395A>T) n.602A>T c.163A>T (p.Ile55Phe) c.-140A>T (n.-140A>T)
5	g.140695808T>A	CA361198265	HARS2	c.596T>A (p.Ile199Asn) c.374T>A (p.Ile125Asn) c.386T>A (p.Ile129Asn) c.174T>A (n.174T>A) c.562T>A c.614T>A (p.Ile205Asn) c.179T>A (p.Ile60Asn) c.521T>A (p.Ile174Asn) c.396T>A (n.396T>A) n.603T>A c.164T>A (p.Ile55Asn) c.-139T>A (n.-139T>A)
5	g.140695808T>C	CA361198267	HARS2	c.596T>C (p.Ile199Thr) c.374T>C (p.Ile125Thr) c.386T>C (p.Ile129Thr) c.174T>C (n.174T>C) c.562T>C c.614T>C (p.Ile205Thr) c.179T>C (p.Ile60Thr) c.521T>C (p.Ile174Thr) c.396T>C (n.396T>C) n.603T>C c.164T>C (p.Ile55Thr) c.-139T>C (n.-139T>C)
5	g.140695808T>G	CA361198269	HARS2	c.596T>G (p.Ile199Ser) c.374T>G (p.Ile125Ser) c.386T>G (p.Ile129Ser) c.174T>G (n.174T>G) c.562T>G c.614T>G (p.Ile205Ser) c.179T>G (p.Ile60Ser) c.521T>G (p.Ile174Ser) c.396T>G (n.396T>G) n.603T>G c.164T>G (p.Ile55Ser) c.-139T>G (n.-139T>G)
5	g.140695808_140695809delinsTC	CA1586866900	HARS2	c.596_597delinsTC (p.Ile199=) c.374_375delinsTC (p.Ile125=) c.386_387delinsTC (p.Ile129=) c.174_175delinsTC (n.174_175delinsTC) c.562_563delinsTC c.614_615delinsTC (p.Ile205=) c.179_180delinsTC (p.Ile60=) c.521_522delinsTC (p.Ile174=) c.396_397delinsTC (n.396_397delinsTC) n.603_604delinsTC c.164_165delinsTC (p.Ile55=) c.-139_-138delinsTC (n.-139_-138delinsTC)
5	g.140695809C>A	CA446804418	HARS2	c.597C>A (p.Ile199=) c.375C>A (p.Ile125=) c.387C>A (p.Ile129=) c.175C>A (n.175C>A) c.563C>A c.615C>A (p.Ile205=) c.180C>A (p.Ile60=) c.522C>A (p.Ile174=) c.397C>A (n.397C>A) n.604C>A c.165C>A (p.Ile55=) c.-138C>A (n.-138C>A)
5	g.140695809C=	CA1586866908	HARS2	c.597C= (p.Ile199=) c.375C= (p.Ile125=) c.387C= (p.Ile129=) c.175C= (n.175C=) c.563C= c.615C= (p.Ile205=) c.180C= (p.Ile60=) c.522C= (p.Ile174=) c.397C= (n.397C=) n.604C= c.165C= (p.Ile55=) c.-138C= (n.-138C=)
5	g.140695809C>G	CA128341939	HARS2	c.597C>G (p.Ile199Met) c.375C>G (p.Ile125Met) c.387C>G (p.Ile129Met) c.175C>G (n.175C>G) c.563C>G c.615C>G (p.Ile205Met) c.180C>G (p.Ile60Met) c.522C>G (p.Ile174Met) c.397C>G (n.397C>G) n.604C>G c.165C>G (p.Ile55Met) c.-138C>G (n.-138C>G)	dbSNP
5	g.140695809C>T	CA446804419	HARS2	c.597C>T (p.Ile199=) c.375C>T (p.Ile125=) c.387C>T (p.Ile129=) c.175C>T (n.175C>T) c.563C>T c.615C>T (p.Ile205=) c.180C>T (p.Ile60=) c.522C>T (p.Ile174=) c.397C>T (n.397C>T) n.604C>T c.165C>T (p.Ile55=) c.-138C>T (n.-138C>T)
5	g.140695810del	CA563500232	HARS2	c.598del (p.Leu200Ter) c.376del (p.Leu126Ter) c.388del (p.Leu130Ter) c.176del (n.176del) c.564del c.616del (p.Leu206Ter) c.181del (p.Leu61Ter) c.523del (p.Leu175Ter) c.398del (n.398del) n.605del c.166del (p.Leu56Ter) c.-137del (n.-137del)	dbSNP gnomAD v2 gnomAD v4
5	g.140695810C>A	CA361198272	HARS2	c.598C>A (p.Leu200Ile) c.376C>A (p.Leu126Ile) c.388C>A (p.Leu130Ile) c.176C>A (n.176C>A) c.564C>A c.616C>A (p.Leu206Ile) c.181C>A (p.Leu61Ile) c.523C>A (p.Leu175Ile) c.398C>A (n.398C>A) n.605C>A c.166C>A (p.Leu56Ile) c.-137C>A (n.-137C>A)
5	g.140695810C=	CA1586866918	HARS2	c.598C= (p.Leu200=) c.376C= (p.Leu126=) c.388C= (p.Leu130=) c.176C= (n.176C=) c.564C= c.616C= (p.Leu206=) c.181C= (p.Leu61=) c.523C= (p.Leu175=) c.398C= (n.398C=) n.605C= c.166C= (p.Leu56=) c.-137C= (n.-137C=)
5	g.140695810C>G	CA343806	HARS2	c.598C>G (p.Leu200Val) c.376C>G (p.Leu126Val) c.388C>G (p.Leu130Val) c.176C>G (n.176C>G) c.564C>G c.616C>G (p.Leu206Val) c.181C>G (p.Leu61Val) c.523C>G (p.Leu175Val) c.398C>G (n.398C>G) n.605C>G c.166C>G (p.Leu56Val) c.-137C>G (n.-137C>G)	ClinVar dbSNP gnomAD v2
5	g.140695810C>T	CA446804420	HARS2	c.598C>T (p.Leu200=) c.376C>T (p.Leu126=) c.388C>T (p.Leu130=) c.176C>T (n.176C>T) c.564C>T c.616C>T (p.Leu206=) c.181C>T (p.Leu61=) c.523C>T (p.Leu175=) c.398C>T (n.398C>T) n.605C>T c.166C>T (p.Leu56=) c.-137C>T (n.-137C>T)	gnomAD v4
5	g.140695811T>A	CA361198275	HARS2	c.599T>A (p.Leu200Gln) c.377T>A (p.Leu126Gln) c.389T>A (p.Leu130Gln) c.177T>A (n.177T>A) c.565T>A c.617T>A (p.Leu206Gln) c.182T>A (p.Leu61Gln) c.524T>A (p.Leu175Gln) c.399T>A (n.399T>A) n.606T>A c.167T>A (p.Leu56Gln) c.-136T>A (n.-136T>A)
5	g.140695811T>C	CA361198278	HARS2	c.599T>C (p.Leu200Pro) c.377T>C (p.Leu126Pro) c.389T>C (p.Leu130Pro) c.177T>C (n.177T>C) c.565T>C c.617T>C (p.Leu206Pro) c.182T>C (p.Leu61Pro) c.524T>C (p.Leu175Pro) c.399T>C (n.399T>C) n.606T>C c.167T>C (p.Leu56Pro) c.-136T>C (n.-136T>C)
5	g.140695811T>G	CA361198280	HARS2	c.599T>G (p.Leu200Arg) c.377T>G (p.Leu126Arg) c.389T>G (p.Leu130Arg) c.177T>G (n.177T>G) c.565T>G c.617T>G (p.Leu206Arg) c.182T>G (p.Leu61Arg) c.524T>G (p.Leu175Arg) c.399T>G (n.399T>G) n.606T>G c.167T>G (p.Leu56Arg) c.-136T>G (n.-136T>G)
5	g.140695812A=	CA1586866925	HARS2	c.600A= (p.Leu200=) c.378A= (p.Leu126=) c.390A= (p.Leu130=) c.178A= (n.178A=) c.566A= c.618A= (p.Leu206=) c.183A= (p.Leu61=) c.525A= (p.Leu175=) c.400A= (n.400A=) n.607A= c.168A= (p.Leu56=) c.-135A= (n.-135A=)
5	g.140695812A>C	CA446804422	HARS2	c.600A>C (p.Leu200=) c.378A>C (p.Leu126=) c.390A>C (p.Leu130=) c.178A>C (n.178A>C) c.566A>C c.618A>C (p.Leu206=) c.183A>C (p.Leu61=) c.525A>C (p.Leu175=) c.400A>C (n.400A>C) n.607A>C c.168A>C (p.Leu56=) c.-135A>C (n.-135A>C)
5	g.140695812A>G	CA128341943	HARS2	c.600A>G (p.Leu200=) c.378A>G (p.Leu126=) c.390A>G (p.Leu130=) c.178A>G (n.178A>G) c.566A>G c.618A>G (p.Leu206=) c.183A>G (p.Leu61=) c.525A>G (p.Leu175=) c.400A>G (n.400A>G) n.607A>G c.168A>G (p.Leu56=) c.-135A>G (n.-135A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.140695812A>T	CA446804425	HARS2	c.600A>T (p.Leu200=) c.378A>T (p.Leu126=) c.390A>T (p.Leu130=) c.178A>T (n.178A>T) c.566A>T c.618A>T (p.Leu206=) c.183A>T (p.Leu61=) c.525A>T (p.Leu175=) c.400A>T (n.400A>T) n.607A>T c.168A>T (p.Leu56=) c.-135A>T (n.-135A>T)
5	g.140695813A=	CA1586866935	HARS2	c.601A= (p.Ser201=) c.379A= (p.Ser127=) c.391A= (p.Ser131=) c.179A= (n.179A=) c.567A= c.619A= (p.Ser207=) c.184A= (p.Ser62=) c.526A= (p.Ser176=) c.401A= (n.401A=) n.608A= c.169A= (p.Ser57=) c.-134A= (n.-134A=)
5	g.140695813A>C	CA361198283	HARS2	c.601A>C (p.Ser201Arg) c.379A>C (p.Ser127Arg) c.391A>C (p.Ser131Arg) c.179A>C (n.179A>C) c.567A>C c.619A>C (p.Ser207Arg) c.184A>C (p.Ser62Arg) c.526A>C (p.Ser176Arg) c.401A>C (n.401A>C) n.608A>C c.169A>C (p.Ser57Arg) c.-134A>C (n.-134A>C)
5	g.140695813A>G	CA361198284	HARS2	c.601A>G (p.Ser201Gly) c.379A>G (p.Ser127Gly) c.391A>G (p.Ser131Gly) c.179A>G (n.179A>G) c.567A>G c.619A>G (p.Ser207Gly) c.184A>G (p.Ser62Gly) c.526A>G (p.Ser176Gly) c.401A>G (n.401A>G) n.608A>G c.169A>G (p.Ser57Gly) c.-134A>G (n.-134A>G)
5	g.140695813A>T	CA128341946	HARS2	c.601A>T (p.Ser201Cys) c.379A>T (p.Ser127Cys) c.391A>T (p.Ser131Cys) c.179A>T (n.179A>T) c.567A>T c.619A>T (p.Ser207Cys) c.184A>T (p.Ser62Cys) c.526A>T (p.Ser176Cys) c.401A>T (n.401A>T) n.608A>T c.169A>T (p.Ser57Cys) c.-134A>T (n.-134A>T)	dbSNP gnomAD v3 gnomAD v4
5	g.140695814G>A	CA361198287	HARS2	c.602G>A (p.Ser201Asn) c.380G>A (p.Ser127Asn) c.392G>A (p.Ser131Asn) c.180G>A (n.180G>A) c.568G>A c.620G>A (p.Ser207Asn) c.185G>A (p.Ser62Asn) c.527G>A (p.Ser176Asn) c.402G>A (n.402G>A) n.609G>A c.170G>A (p.Ser57Asn) c.-133G>A (n.-133G>A)
5	g.140695814G>C	CA361198288	HARS2	c.602G>C (p.Ser201Thr) c.380G>C (p.Ser127Thr) c.392G>C (p.Ser131Thr) c.180G>C (n.180G>C) c.568G>C c.620G>C (p.Ser207Thr) c.185G>C (p.Ser62Thr) c.527G>C (p.Ser176Thr) c.402G>C (n.402G>C) n.609G>C c.170G>C (p.Ser57Thr) c.-133G>C (n.-133G>C)
5	g.140695814G>T	CA361198290	HARS2	c.602G>T (p.Ser201Ile) c.380G>T (p.Ser127Ile) c.392G>T (p.Ser131Ile) c.180G>T (n.180G>T) c.568G>T c.620G>T (p.Ser207Ile) c.185G>T (p.Ser62Ile) c.527G>T (p.Ser176Ile) c.402G>T (n.402G>T) n.609G>T c.170G>T (p.Ser57Ile) c.-133G>T (n.-133G>T)
5	g.140695815T>A	CA361198291	HARS2	c.603T>A (p.Ser201Arg) c.381T>A (p.Ser127Arg) c.393T>A (p.Ser131Arg) c.181T>A (n.181T>A) c.569T>A c.621T>A (p.Ser207Arg) c.186T>A (p.Ser62Arg) c.528T>A (p.Ser176Arg) c.403T>A (n.403T>A) n.610T>A c.171T>A (p.Ser57Arg) c.-132T>A (n.-132T>A)
5	g.140695815T>C	CA446804430	HARS2	c.603T>C (p.Ser201=) c.381T>C (p.Ser127=) c.393T>C (p.Ser131=) c.181T>C (n.181T>C) c.569T>C c.621T>C (p.Ser207=) c.186T>C (p.Ser62=) c.528T>C (p.Ser176=) c.403T>C (n.403T>C) n.610T>C c.171T>C (p.Ser57=) c.-132T>C (n.-132T>C)	dbSNP gnomAD v4
5	g.140695815T>G	CA361198292	HARS2	c.603T>G (p.Ser201Arg) c.381T>G (p.Ser127Arg) c.393T>G (p.Ser131Arg) c.181T>G (n.181T>G) c.569T>G c.621T>G (p.Ser207Arg) c.186T>G (p.Ser62Arg) c.528T>G (p.Ser176Arg) c.403T>G (n.403T>G) n.610T>G c.171T>G (p.Ser57Arg) c.-132T>G (n.-132T>G)
5	g.140695815T=	CA1586866943	HARS2	c.603T= (p.Ser201=) c.381T= (p.Ser127=) c.393T= (p.Ser131=) c.181T= (n.181T=) c.569T= c.621T= (p.Ser207=) c.186T= (p.Ser62=) c.528T= (p.Ser176=) c.403T= (n.403T=) n.610T= c.171T= (p.Ser57=) c.-132T= (n.-132T=)
5	g.140695816G>A	CA361198294	HARS2	c.604G>A (p.Gly202Arg) c.382G>A (p.Gly128Arg) c.394G>A (p.Gly132Arg) c.182G>A (n.182G>A) c.570G>A c.622G>A (p.Gly208Arg) c.187G>A (p.Gly63Arg) c.529G>A (p.Gly177Arg) c.404G>A (n.404G>A) n.611G>A c.172G>A (p.Gly58Arg) c.-131G>A (n.-131G>A)
5	g.140695816G>C	CA361198296	HARS2	c.604G>C (p.Gly202Arg) c.382G>C (p.Gly128Arg) c.394G>C (p.Gly132Arg) c.182G>C (n.182G>C) c.570G>C c.622G>C (p.Gly208Arg) c.187G>C (p.Gly63Arg) c.529G>C (p.Gly177Arg) c.404G>C (n.404G>C) n.611G>C c.172G>C (p.Gly58Arg) c.-131G>C (n.-131G>C)
5	g.140695816G>T	CA361198297	HARS2	c.604G>T (p.Gly202Ter) c.382G>T (p.Gly128Ter) c.394G>T (p.Gly132Ter) c.182G>T (n.182G>T) c.570G>T c.622G>T (p.Gly208Ter) c.187G>T (p.Gly63Ter) c.529G>T (p.Gly177Ter) c.404G>T (n.404G>T) n.611G>T c.172G>T (p.Gly58Ter) c.-131G>T (n.-131G>T)
5	g.140695817G>A	CA361198300	HARS2	c.605G>A (p.Gly202Glu) c.383G>A (p.Gly128Glu) c.395G>A (p.Gly132Glu) c.183G>A (n.183G>A) c.571G>A c.623G>A (p.Gly208Glu) c.188G>A (p.Gly63Glu) c.530G>A (p.Gly177Glu) c.405G>A (n.405G>A) n.612G>A c.173G>A (p.Gly58Glu) c.-130G>A (n.-130G>A)
5	g.140695817G>C	CA361198301	HARS2	c.605G>C (p.Gly202Ala) c.383G>C (p.Gly128Ala) c.395G>C (p.Gly132Ala) c.183G>C (n.183G>C) c.571G>C c.623G>C (p.Gly208Ala) c.188G>C (p.Gly63Ala) c.530G>C (p.Gly177Ala) c.405G>C (n.405G>C) n.612G>C c.173G>C (p.Gly58Ala) c.-130G>C (n.-130G>C)	dbSNP
5	g.140695817G=	CA1586866947	HARS2	c.605G= (p.Gly202=) c.383G= (p.Gly128=) c.395G= (p.Gly132=) c.183G= (n.183G=) c.571G= c.623G= (p.Gly208=) c.188G= (p.Gly63=) c.530G= (p.Gly177=) c.405G= (n.405G=) n.612G= c.173G= (p.Gly58=) c.-130G= (n.-130G=)
5	g.140695817G>T	CA361198303	HARS2	c.605G>T (p.Gly202Val) c.383G>T (p.Gly128Val) c.395G>T (p.Gly132Val) c.183G>T (n.183G>T) c.571G>T c.623G>T (p.Gly208Val) c.188G>T (p.Gly63Val) c.530G>T (p.Gly177Val) c.405G>T (n.405G>T) n.612G>T c.173G>T (p.Gly58Val) c.-130G>T (n.-130G>T)
5	g.140695818A>C	CA446804433	HARS2	c.606A>C (p.Gly202=) c.384A>C (p.Gly128=) c.396A>C (p.Gly132=) c.184A>C (n.184A>C) c.572A>C c.624A>C (p.Gly208=) c.189A>C (p.Gly63=) c.531A>C (p.Gly177=) c.406A>C (n.406A>C) n.613A>C c.174A>C (p.Gly58=) c.-129A>C (n.-129A>C)
5	g.140695818A>G	CA446804434	HARS2	c.606A>G (p.Gly202=) c.384A>G (p.Gly128=) c.396A>G (p.Gly132=) c.184A>G (n.184A>G) c.572A>G c.624A>G (p.Gly208=) c.189A>G (p.Gly63=) c.531A>G (p.Gly177=) c.406A>G (n.406A>G) n.613A>G c.174A>G (p.Gly58=) c.-129A>G (n.-129A>G)
5	g.140695818A>T	CA446804435	HARS2	c.606A>T (p.Gly202=) c.384A>T (p.Gly128=) c.396A>T (p.Gly132=) c.184A>T (n.184A>T) c.572A>T c.624A>T (p.Gly208=) c.189A>T (p.Gly63=) c.531A>T (p.Gly177=) c.406A>T (n.406A>T) n.613A>T c.174A>T (p.Gly58=) c.-129A>T (n.-129A>T)	gnomAD v4
5	g.140695819T>A	CA361198308	HARS2	c.607T>A (p.Leu203Met) c.385T>A (p.Leu129Met) c.397T>A (p.Leu133Met) c.185T>A (n.185T>A) c.573T>A c.625T>A (p.Leu209Met) c.190T>A (p.Leu64Met) c.532T>A (p.Leu178Met) c.407T>A (n.407T>A) n.614T>A c.175T>A (p.Leu59Met) c.-128T>A (n.-128T>A)	ClinVar
5	g.140695819T>C	CA3444473	HARS2	c.607T>C (p.Leu203=) c.385T>C (p.Leu129=) c.397T>C (p.Leu133=) c.185T>C (n.185T>C) c.573T>C c.625T>C (p.Leu209=) c.190T>C (p.Leu64=) c.532T>C (p.Leu178=) c.407T>C (n.407T>C) n.614T>C c.175T>C (p.Leu59=) c.-128T>C (n.-128T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.140695819T>G	CA361198305	HARS2	c.607T>G (p.Leu203Val) c.385T>G (p.Leu129Val) c.397T>G (p.Leu133Val) c.185T>G (n.185T>G) c.573T>G c.625T>G (p.Leu209Val) c.190T>G (p.Leu64Val) c.532T>G (p.Leu178Val) c.407T>G (n.407T>G) n.614T>G c.175T>G (p.Leu59Val) c.-128T>G (n.-128T>G)
5	g.140695819T=	CA1586866957	HARS2	c.607T= (p.Leu203=) c.385T= (p.Leu129=) c.397T= (p.Leu133=) c.185T= (n.185T=) c.573T= c.625T= (p.Leu209=) c.190T= (p.Leu64=) c.532T= (p.Leu178=) c.407T= (n.407T=) n.614T= c.175T= (p.Leu59=) c.-128T= (n.-128T=)
5	g.140695820T>A	CA361198314	HARS2	c.608T>A (p.Leu203Ter) c.386T>A (p.Leu129Ter) c.398T>A (p.Leu133Ter) c.186T>A (n.186T>A) c.574T>A c.626T>A (p.Leu209Ter) c.191T>A (p.Leu64Ter) c.533T>A (p.Leu178Ter) c.408T>A (n.408T>A) n.615T>A c.176T>A (p.Leu59Ter) c.-127T>A (n.-127T>A)
5	g.140695820T>C	CA361198310	HARS2	c.608T>C (p.Leu203Ser) c.386T>C (p.Leu129Ser) c.398T>C (p.Leu133Ser) c.186T>C (n.186T>C) c.574T>C c.626T>C (p.Leu209Ser) c.191T>C (p.Leu64Ser) c.533T>C (p.Leu178Ser) c.408T>C (n.408T>C) n.615T>C c.176T>C (p.Leu59Ser) c.-127T>C (n.-127T>C)
5	g.140695820T>G	CA361198312	HARS2	c.608T>G (p.Leu203Trp) c.386T>G (p.Leu129Trp) c.398T>G (p.Leu133Trp) c.186T>G (n.186T>G) c.574T>G c.626T>G (p.Leu209Trp) c.191T>G (p.Leu64Trp) c.533T>G (p.Leu178Trp) c.408T>G (n.408T>G) n.615T>G c.176T>G (p.Leu59Trp) c.-127T>G (n.-127T>G)
5	g.140695821G>A	CA446804440	HARS2	c.609G>A (p.Leu203=) c.387G>A (p.Leu129=) c.399G>A (p.Leu133=) c.187G>A (n.187G>A) c.575G>A c.627G>A (p.Leu209=) c.192G>A (p.Leu64=) c.534G>A (p.Leu178=) c.409G>A (n.409G>A) n.616G>A c.177G>A (p.Leu59=) c.-126G>A (n.-126G>A)
5	g.140695821G>C	CA361198316	HARS2	c.609G>C (p.Leu203Phe) c.387G>C (p.Leu129Phe) c.399G>C (p.Leu133Phe) c.187G>C (n.187G>C) c.575G>C c.627G>C (p.Leu209Phe) c.192G>C (p.Leu64Phe) c.534G>C (p.Leu178Phe) c.409G>C (n.409G>C) n.616G>C c.177G>C (p.Leu59Phe) c.-126G>C (n.-126G>C)
5	g.140695821G>T	CA361198317	HARS2	c.609G>T (p.Leu203Phe) c.387G>T (p.Leu129Phe) c.399G>T (p.Leu133Phe) c.187G>T (n.187G>T) c.575G>T c.627G>T (p.Leu209Phe) c.192G>T (p.Leu64Phe) c.534G>T (p.Leu178Phe) c.409G>T (n.409G>T) n.616G>T c.177G>T (p.Leu59Phe) c.-126G>T (n.-126G>T)
5	g.140695822C>A	CA361198320	HARS2	c.610C>A (p.Gln204Lys) c.388C>A (p.Gln130Lys) c.400C>A (p.Gln134Lys) c.188C>A (n.188C>A) c.576C>A c.628C>A (p.Gln210Lys) c.193C>A (p.Gln65Lys) c.535C>A (p.Gln179Lys) c.410C>A (n.410C>A) n.617C>A c.178C>A (p.Gln60Lys) c.-125C>A (n.-125C>A)	gnomAD v4
5	g.140695822C>G	CA361198322	HARS2	c.610C>G (p.Gln204Glu) c.388C>G (p.Gln130Glu) c.400C>G (p.Gln134Glu) c.188C>G (n.188C>G) c.576C>G c.628C>G (p.Gln210Glu) c.193C>G (p.Gln65Glu) c.535C>G (p.Gln179Glu) c.410C>G (n.410C>G) n.617C>G c.178C>G (p.Gln60Glu) c.-125C>G (n.-125C>G)
5	g.140695822C>T	CA361198324	HARS2	c.610C>T (p.Gln204Ter) c.388C>T (p.Gln130Ter) c.400C>T (p.Gln134Ter) c.188C>T (n.188C>T) c.576C>T c.628C>T (p.Gln210Ter) c.193C>T (p.Gln65Ter) c.535C>T (p.Gln179Ter) c.410C>T (n.410C>T) n.617C>T c.178C>T (p.Gln60Ter) c.-125C>T (n.-125C>T)	gnomAD v4
5	g.140695823A>C	CA361198326	HARS2	c.611A>C (p.Gln204Pro) c.389A>C (p.Gln130Pro) c.401A>C (p.Gln134Pro) c.189A>C (n.189A>C) c.577A>C c.629A>C (p.Gln210Pro) c.194A>C (p.Gln65Pro) c.536A>C (p.Gln179Pro) c.411A>C (n.411A>C) n.618A>C c.179A>C (p.Gln60Pro) c.-124A>C (n.-124A>C)
5	g.140695823A>G	CA361198328	HARS2	c.611A>G (p.Gln204Arg) c.389A>G (p.Gln130Arg) c.401A>G (p.Gln134Arg) c.189A>G (n.189A>G) c.577A>G c.629A>G (p.Gln210Arg) c.194A>G (p.Gln65Arg) c.536A>G (p.Gln179Arg) c.411A>G (n.411A>G) n.618A>G c.179A>G (p.Gln60Arg) c.-124A>G (n.-124A>G)
5	g.140695823A>T	CA361198329	HARS2	c.611A>T (p.Gln204Leu) c.389A>T (p.Gln130Leu) c.401A>T (p.Gln134Leu) c.189A>T (n.189A>T) c.577A>T c.629A>T (p.Gln210Leu) c.194A>T (p.Gln65Leu) c.536A>T (p.Gln179Leu) c.411A>T (n.411A>T) n.618A>T c.179A>T (p.Gln60Leu) c.-124A>T (n.-124A>T)
5	g.140695824G>A	CA446804444	HARS2	c.612G>A (p.Gln204=) c.390G>A (p.Gln130=) c.402G>A (p.Gln134=) c.190G>A (n.190G>A) c.578G>A c.630G>A (p.Gln210=) c.195G>A (p.Gln65=) c.537G>A (p.Gln179=) c.412G>A (n.412G>A) n.619G>A c.180G>A (p.Gln60=) c.-123G>A (n.-123G>A)	gnomAD v4
5	g.140695824G>C	CA361198331	HARS2	c.612G>C (p.Gln204His) c.390G>C (p.Gln130His) c.402G>C (p.Gln134His) c.190G>C (n.190G>C) c.578G>C c.630G>C (p.Gln210His) c.195G>C (p.Gln65His) c.537G>C (p.Gln179His) c.412G>C (n.412G>C) n.619G>C c.180G>C (p.Gln60His) c.-123G>C (n.-123G>C)
5	g.140695824G>T	CA361198332	HARS2	c.612G>T (p.Gln204His) c.390G>T (p.Gln130His) c.402G>T (p.Gln134His) c.190G>T (n.190G>T) c.578G>T c.630G>T (p.Gln210His) c.195G>T (p.Gln65His) c.537G>T (p.Gln179His) c.412G>T (n.412G>T) n.619G>T c.180G>T (p.Gln60His) c.-123G>T (n.-123G>T)
5	g.140695825T>A	CA361198335	HARS2	c.613T>A (p.Leu205Met) c.391T>A (p.Leu131Met) c.403T>A (p.Leu135Met) c.191T>A (n.191T>A) c.579T>A c.631T>A (p.Leu211Met) c.196T>A (p.Leu66Met) c.538T>A (p.Leu180Met) c.413T>A (n.413T>A) n.620T>A c.181T>A (p.Leu61Met) c.-122T>A (n.-122T>A)
5	g.140695825T>C	CA3444474	HARS2	c.613T>C (p.Leu205=) c.391T>C (p.Leu131=) c.403T>C (p.Leu135=) c.191T>C (n.191T>C) c.579T>C c.631T>C (p.Leu211=) c.196T>C (p.Leu66=) c.538T>C (p.Leu180=) c.413T>C (n.413T>C) n.620T>C c.181T>C (p.Leu61=) c.-122T>C (n.-122T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.140695825T>G	CA361198333	HARS2	c.613T>G (p.Leu205Val) c.391T>G (p.Leu131Val) c.403T>G (p.Leu135Val) c.191T>G (n.191T>G) c.579T>G c.631T>G (p.Leu211Val) c.196T>G (p.Leu66Val) c.538T>G (p.Leu180Val) c.413T>G (n.413T>G) n.620T>G c.181T>G (p.Leu61Val) c.-122T>G (n.-122T>G)	gnomAD v4
5	g.140695825T=	CA1586866965	HARS2	c.613T= (p.Leu205=) c.391T= (p.Leu131=) c.403T= (p.Leu135=) c.191T= (n.191T=) c.579T= c.631T= (p.Leu211=) c.196T= (p.Leu66=) c.538T= (p.Leu180=) c.413T= (n.413T=) n.620T= c.181T= (p.Leu61=) c.-122T= (n.-122T=)
5	g.140695826T>A	CA361198338	HARS2	c.614T>A (p.Leu205Ter) c.392T>A (p.Leu131Ter) c.404T>A (p.Leu135Ter) c.192T>A (n.192T>A) c.580T>A c.632T>A (p.Leu211Ter) c.197T>A (p.Leu66Ter) c.539T>A (p.Leu180Ter) c.414T>A (n.414T>A) n.621T>A c.182T>A (p.Leu61Ter) c.-121T>A (n.-121T>A)
5	g.140695826T>C	CA361198340	HARS2	c.614T>C (p.Leu205Ser) c.392T>C (p.Leu131Ser) c.404T>C (p.Leu135Ser) c.192T>C (n.192T>C) c.580T>C c.632T>C (p.Leu211Ser) c.197T>C (p.Leu66Ser) c.539T>C (p.Leu180Ser) c.414T>C (n.414T>C) n.621T>C c.182T>C (p.Leu61Ser) c.-121T>C (n.-121T>C)
5	g.140695826T>G	CA361198342	HARS2	c.614T>G (p.Leu205Trp) c.392T>G (p.Leu131Trp) c.404T>G (p.Leu135Trp) c.192T>G (n.192T>G) c.580T>G c.632T>G (p.Leu211Trp) c.197T>G (p.Leu66Trp) c.539T>G (p.Leu180Trp) c.414T>G (n.414T>G) n.621T>G c.182T>G (p.Leu61Trp) c.-121T>G (n.-121T>G)
5	g.140695827G>A	CA446804447	HARS2	c.615G>A (p.Leu205=) c.393G>A (p.Leu131=) c.405G>A (p.Leu135=) c.193G>A (n.193G>A) c.581G>A c.633G>A (p.Leu211=) c.198G>A (p.Leu66=) c.540G>A (p.Leu180=) c.415G>A (n.415G>A) n.622G>A c.183G>A (p.Leu61=) c.-120G>A (n.-120G>A)
5	g.140695827G>C	CA361198344	HARS2	c.615G>C (p.Leu205Phe) c.393G>C (p.Leu131Phe) c.405G>C (p.Leu135Phe) c.193G>C (n.193G>C) c.581G>C c.633G>C (p.Leu211Phe) c.198G>C (p.Leu66Phe) c.540G>C (p.Leu180Phe) c.415G>C (n.415G>C) n.622G>C c.183G>C (p.Leu61Phe) c.-120G>C (n.-120G>C)
5	g.140695827G>T	CA361198346	HARS2	c.615G>T (p.Leu205Phe) c.393G>T (p.Leu131Phe) c.405G>T (p.Leu135Phe) c.193G>T (n.193G>T) c.581G>T c.633G>T (p.Leu211Phe) c.198G>T (p.Leu66Phe) c.540G>T (p.Leu180Phe) c.415G>T (n.415G>T) n.622G>T c.183G>T (p.Leu61Phe) c.-120G>T (n.-120G>T)
5	g.140695828G>A	CA361198350	HARS2	c.616G>A (p.Gly206Arg) c.394G>A (p.Gly132Arg) c.406G>A (p.Gly136Arg) c.194G>A (n.194G>A) c.582G>A c.634G>A (p.Gly212Arg) c.199G>A (p.Gly67Arg) c.541G>A (p.Gly181Arg) c.416G>A (n.416G>A) n.623G>A c.184G>A (p.Gly62Arg) c.-119G>A (n.-119G>A)	dbSNP gnomAD v4
5	g.140695828G>C	CA361198348	HARS2	c.616G>C (p.Gly206Arg) c.394G>C (p.Gly132Arg) c.406G>C (p.Gly136Arg) c.194G>C (n.194G>C) c.582G>C c.634G>C (p.Gly212Arg) c.199G>C (p.Gly67Arg) c.541G>C (p.Gly181Arg) c.416G>C (n.416G>C) n.623G>C c.184G>C (p.Gly62Arg) c.-119G>C (n.-119G>C)
5	g.140695828G=	CA1586866973	HARS2	c.616G= (p.Gly206=) c.394G= (p.Gly132=) c.406G= (p.Gly136=) c.194G= (n.194G=) c.582G= c.634G= (p.Gly212=) c.199G= (p.Gly67=) c.541G= (p.Gly181=) c.416G= (n.416G=) n.623G= c.184G= (p.Gly62=) c.-119G= (n.-119G=)
5	g.140695828G>T	CA361198349	HARS2	c.616G>T (p.Gly206Ter) c.394G>T (p.Gly132Ter) c.406G>T (p.Gly136Ter) c.194G>T (n.194G>T) c.582G>T c.634G>T (p.Gly212Ter) c.199G>T (p.Gly67Ter) c.541G>T (p.Gly181Ter) c.416G>T (n.416G>T) n.623G>T c.184G>T (p.Gly62Ter) c.-119G>T (n.-119G>T)
5	g.140695829G>A	CA361198351	HARS2	c.617G>A (p.Gly206Glu) c.395G>A (p.Gly132Glu) c.407G>A (p.Gly136Glu) c.195G>A (n.195G>A) c.583G>A c.635G>A (p.Gly212Glu) c.200G>A (p.Gly67Glu) c.542G>A (p.Gly181Glu) c.417G>A (n.417G>A) n.624G>A c.185G>A (p.Gly62Glu) c.-118G>A (n.-118G>A)
5	g.140695829G>C	CA361198353	HARS2	c.617G>C (p.Gly206Ala) c.395G>C (p.Gly132Ala) c.407G>C (p.Gly136Ala) c.195G>C (n.195G>C) c.583G>C c.635G>C (p.Gly212Ala) c.200G>C (p.Gly67Ala) c.542G>C (p.Gly181Ala) c.417G>C (n.417G>C) n.624G>C c.185G>C (p.Gly62Ala) c.-118G>C (n.-118G>C)
5	g.140695829G>T	CA361198355	HARS2	c.617G>T (p.Gly206Val) c.395G>T (p.Gly132Val) c.407G>T (p.Gly136Val) c.195G>T (n.195G>T) c.583G>T c.635G>T (p.Gly212Val) c.200G>T (p.Gly67Val) c.542G>T (p.Gly181Val) c.417G>T (n.417G>T) n.624G>T c.185G>T (p.Gly62Val) c.-118G>T (n.-118G>T)
5	g.140695830A=	CA1586866980	HARS2	c.618A= (p.Gly206=) c.396A= (p.Gly132=) c.408A= (p.Gly136=) c.196A= (n.196A=) c.584A= c.636A= (p.Gly212=) c.201A= (p.Gly67=) c.543A= (p.Gly181=) c.418A= (n.418A=) n.625A= c.186A= (p.Gly62=) c.-117A= (n.-117A=)
5	g.140695830A>C	CA446804449	HARS2	c.618A>C (p.Gly206=) c.396A>C (p.Gly132=) c.408A>C (p.Gly136=) c.196A>C (n.196A>C) c.584A>C c.636A>C (p.Gly212=) c.201A>C (p.Gly67=) c.543A>C (p.Gly181=) c.418A>C (n.418A>C) n.625A>C c.186A>C (p.Gly62=) c.-117A>C (n.-117A>C)
5	g.140695830A>G	CA446804450	HARS2	c.618A>G (p.Gly206=) c.396A>G (p.Gly132=) c.408A>G (p.Gly136=) c.196A>G (n.196A>G) c.584A>G c.636A>G (p.Gly212=) c.201A>G (p.Gly67=) c.543A>G (p.Gly181=) c.418A>G (n.418A>G) n.625A>G c.186A>G (p.Gly62=) c.-117A>G (n.-117A>G)	dbSNP gnomAD v2 gnomAD v4
5	g.140695830A>T	CA446804452	HARS2	c.618A>T (p.Gly206=) c.396A>T (p.Gly132=) c.408A>T (p.Gly136=) c.196A>T (n.196A>T) c.584A>T c.636A>T (p.Gly212=) c.201A>T (p.Gly67=) c.543A>T (p.Gly181=) c.418A>T (n.418A>T) n.625A>T c.186A>T (p.Gly62=) c.-117A>T (n.-117A>T)	dbSNP gnomAD v4
5	g.140695831G>A	CA3444475	HARS2	c.619G>A (p.Asp207Asn) c.397G>A (p.Asp133Asn) c.409G>A (p.Asp137Asn) c.197G>A (n.197G>A) c.585G>A c.637G>A (p.Asp213Asn) c.202G>A (p.Asp68Asn) c.544G>A (p.Asp182Asn) c.419G>A (n.419G>A) n.626G>A c.187G>A (p.Asp63Asn) c.-116G>A (n.-116G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.140695831G>C	CA361198357	HARS2	c.619G>C (p.Asp207His) c.397G>C (p.Asp133His) c.409G>C (p.Asp137His) c.197G>C (n.197G>C) c.585G>C c.637G>C (p.Asp213His) c.202G>C (p.Asp68His) c.544G>C (p.Asp182His) c.419G>C (n.419G>C) n.626G>C c.187G>C (p.Asp63His) c.-116G>C (n.-116G>C)
5	g.140695831G=	CA1586866987	HARS2	c.619G= (p.Asp207=) c.397G= (p.Asp133=) c.409G= (p.Asp137=) c.197G= (n.197G=) c.585G= c.637G= (p.Asp213=) c.202G= (p.Asp68=) c.544G= (p.Asp182=) c.419G= (n.419G=) n.626G= c.187G= (p.Asp63=) c.-116G= (n.-116G=)
5	g.140695831G>T	CA361198359	HARS2	c.619G>T (p.Asp207Tyr) c.397G>T (p.Asp133Tyr) c.409G>T (p.Asp137Tyr) c.197G>T (n.197G>T) c.585G>T c.637G>T (p.Asp213Tyr) c.202G>T (p.Asp68Tyr) c.544G>T (p.Asp182Tyr) c.419G>T (n.419G>T) n.626G>T c.187G>T (p.Asp63Tyr) c.-116G>T (n.-116G>T)	dbSNP gnomAD v4
5	g.140695832A=	CA1586866993	HARS2	c.620A= (p.Asp207=) c.398A= (p.Asp133=) c.410A= (p.Asp137=) c.198A= (n.198A=) c.586A= c.638A= (p.Asp213=) c.203A= (p.Asp68=) c.545A= (p.Asp182=) c.420A= (n.420A=) n.627A= c.188A= (p.Asp63=) c.-115A= (n.-115A=)
5	g.140695832A>C	CA361198362	HARS2	c.620A>C (p.Asp207Ala) c.398A>C (p.Asp133Ala) c.410A>C (p.Asp137Ala) c.198A>C (n.198A>C) c.586A>C c.638A>C (p.Asp213Ala) c.203A>C (p.Asp68Ala) c.545A>C (p.Asp182Ala) c.420A>C (n.420A>C) n.627A>C c.188A>C (p.Asp63Ala) c.-115A>C (n.-115A>C)
5	g.140695832A>G	CA361198365	HARS2	c.620A>G (p.Asp207Gly) c.398A>G (p.Asp133Gly) c.410A>G (p.Asp137Gly) c.198A>G (n.198A>G) c.586A>G c.638A>G (p.Asp213Gly) c.203A>G (p.Asp68Gly) c.545A>G (p.Asp182Gly) c.420A>G (n.420A>G) n.627A>G c.188A>G (p.Asp63Gly) c.-115A>G (n.-115A>G)
5	g.140695832A>T	CA361198361	HARS2	c.620A>T (p.Asp207Val) c.398A>T (p.Asp133Val) c.410A>T (p.Asp137Val) c.198A>T (n.198A>T) c.586A>T c.638A>T (p.Asp213Val) c.203A>T (p.Asp68Val) c.545A>T (p.Asp182Val) c.420A>T (n.420A>T) n.627A>T c.188A>T (p.Asp63Val) c.-115A>T (n.-115A>T)	dbSNP gnomAD v3 gnomAD v4
5	g.140695833C>A	CA361198366	HARS2	c.621C>A (p.Asp207Glu) c.399C>A (p.Asp133Glu) c.411C>A (p.Asp137Glu) c.199C>A (n.199C>A) c.587C>A c.639C>A (p.Asp213Glu) c.204C>A (p.Asp68Glu) c.546C>A (p.Asp182Glu) c.421C>A (n.421C>A) n.628C>A c.189C>A (p.Asp63Glu) c.-114C>A (n.-114C>A)	gnomAD v4
5	g.140695833C>G	CA361198367	HARS2	c.621C>G (p.Asp207Glu) c.399C>G (p.Asp133Glu) c.411C>G (p.Asp137Glu) c.199C>G (n.199C>G) c.587C>G c.639C>G (p.Asp213Glu) c.204C>G (p.Asp68Glu) c.546C>G (p.Asp182Glu) c.421C>G (n.421C>G) n.628C>G c.189C>G (p.Asp63Glu) c.-114C>G (n.-114C>G)
5	g.140695833C>T	CA446804454	HARS2	c.621C>T (p.Asp207=) c.399C>T (p.Asp133=) c.411C>T (p.Asp137=) c.199C>T (n.199C>T) c.587C>T c.639C>T (p.Asp213=) c.204C>T (p.Asp68=) c.546C>T (p.Asp182=) c.421C>T (n.421C>T) n.628C>T c.189C>T (p.Asp63=) c.-114C>T (n.-114C>T)
5	g.140695834T>A	CA361198369	HARS2	c.622T>A (p.Phe208Ile) c.400T>A (p.Phe134Ile) c.412T>A (p.Phe138Ile) c.200T>A (n.200T>A) c.588T>A c.640T>A (p.Phe214Ile) c.205T>A (p.Phe69Ile) c.547T>A (p.Phe183Ile) c.422T>A (n.422T>A) n.629T>A c.190T>A (p.Phe64Ile) c.-113T>A (n.-113T>A)
5	g.140695834T>C	CA361198371	HARS2	c.622T>C (p.Phe208Leu) c.400T>C (p.Phe134Leu) c.412T>C (p.Phe138Leu) c.200T>C (n.200T>C) c.588T>C c.640T>C (p.Phe214Leu) c.205T>C (p.Phe69Leu) c.547T>C (p.Phe183Leu) c.422T>C (n.422T>C) n.629T>C c.190T>C (p.Phe64Leu) c.-113T>C (n.-113T>C)
5	g.140695834T>G	CA361198372	HARS2	c.622T>G (p.Phe208Val) c.400T>G (p.Phe134Val) c.412T>G (p.Phe138Val) c.200T>G (n.200T>G) c.588T>G c.640T>G (p.Phe214Val) c.205T>G (p.Phe69Val) c.547T>G (p.Phe183Val) c.422T>G (n.422T>G) n.629T>G c.190T>G (p.Phe64Val) c.-113T>G (n.-113T>G)
5	g.140695835T>A	CA361198374	HARS2	c.623T>A (p.Phe208Tyr) c.401T>A (p.Phe134Tyr) c.413T>A (p.Phe138Tyr) c.201T>A (n.201T>A) c.589T>A c.641T>A (p.Phe214Tyr) c.206T>A (p.Phe69Tyr) c.548T>A (p.Phe183Tyr) c.423T>A (n.423T>A) n.630T>A c.191T>A (p.Phe64Tyr) c.-112T>A (n.-112T>A)
5	g.140695835T>C	CA361198376	HARS2	c.623T>C (p.Phe208Ser) c.401T>C (p.Phe134Ser) c.413T>C (p.Phe138Ser) c.201T>C (n.201T>C) c.589T>C c.641T>C (p.Phe214Ser) c.206T>C (p.Phe69Ser) c.548T>C (p.Phe183Ser) c.423T>C (n.423T>C) n.630T>C c.191T>C (p.Phe64Ser) c.-112T>C (n.-112T>C)
5	g.140695835T>G	CA361198377	HARS2	c.623T>G (p.Phe208Cys) c.401T>G (p.Phe134Cys) c.413T>G (p.Phe138Cys) c.201T>G (n.201T>G) c.589T>G c.641T>G (p.Phe214Cys) c.206T>G (p.Phe69Cys) c.548T>G (p.Phe183Cys) c.423T>G (n.423T>G) n.630T>G c.191T>G (p.Phe64Cys) c.-112T>G (n.-112T>G)
5	g.140695836T>A	CA361198380	HARS2	c.624T>A (p.Phe208Leu) c.402T>A (p.Phe134Leu) c.414T>A (p.Phe138Leu) c.202T>A (n.202T>A) c.590T>A c.642T>A (p.Phe214Leu) c.207T>A (p.Phe69Leu) c.549T>A (p.Phe183Leu) c.424T>A (n.424T>A) n.631T>A c.192T>A (p.Phe64Leu) c.-111T>A (n.-111T>A)
5	g.140695836T>C	CA446804456	HARS2	c.624T>C (p.Phe208=) c.402T>C (p.Phe134=) c.414T>C (p.Phe138=) c.202T>C (n.202T>C) c.590T>C c.642T>C (p.Phe214=) c.207T>C (p.Phe69=) c.549T>C (p.Phe183=) c.424T>C (n.424T>C) n.631T>C c.192T>C (p.Phe64=) c.-111T>C (n.-111T>C)
5	g.140695836T>G	CA361198381	HARS2	c.624T>G (p.Phe208Leu) c.402T>G (p.Phe134Leu) c.414T>G (p.Phe138Leu) c.202T>G (n.202T>G) c.590T>G c.642T>G (p.Phe214Leu) c.207T>G (p.Phe69Leu) c.549T>G (p.Phe183Leu) c.424T>G (n.424T>G) n.631T>G c.192T>G (p.Phe64Leu) c.-111T>G (n.-111T>G)
5	g.140695837C>A	CA361198382	HARS2	c.625C>A (p.Leu209Ile) c.403C>A (p.Leu135Ile) c.415C>A (p.Leu139Ile) c.203C>A (n.203C>A) c.591C>A c.643C>A (p.Leu215Ile) c.208C>A (p.Leu70Ile) c.550C>A (p.Leu184Ile) c.425C>A (n.425C>A) n.632C>A c.193C>A (p.Leu65Ile) c.-110C>A (n.-110C>A)	gnomAD v4
5	g.140695837C=	CA1586867001	HARS2	c.625C= (p.Leu209=) c.403C= (p.Leu135=) c.415C= (p.Leu139=) c.203C= (n.203C=) c.591C= c.643C= (p.Leu215=) c.208C= (p.Leu70=) c.550C= (p.Leu184=) c.425C= (n.425C=) n.632C= c.193C= (p.Leu65=) c.-110C= (n.-110C=)
5	g.140695837C>G	CA361198384	HARS2	c.625C>G (p.Leu209Val) c.403C>G (p.Leu135Val) c.415C>G (p.Leu139Val) c.203C>G (n.203C>G) c.591C>G c.643C>G (p.Leu215Val) c.208C>G (p.Leu70Val) c.550C>G (p.Leu184Val) c.425C>G (n.425C>G) n.632C>G c.193C>G (p.Leu65Val) c.-110C>G (n.-110C>G)
5	g.140695837C>T	CA361198385	HARS2	c.625C>T (p.Leu209Phe) c.403C>T (p.Leu135Phe) c.415C>T (p.Leu139Phe) c.203C>T (n.203C>T) c.591C>T c.643C>T (p.Leu215Phe) c.208C>T (p.Leu70Phe) c.550C>T (p.Leu184Phe) c.425C>T (n.425C>T) n.632C>T c.193C>T (p.Leu65Phe) c.-110C>T (n.-110C>T)	dbSNP gnomAD v2 gnomAD v4
5	g.140695838T>A	CA361198391	HARS2	c.626T>A (p.Leu209His) c.404T>A (p.Leu135His) c.416T>A (p.Leu139His) c.204T>A (n.204T>A) c.592T>A c.644T>A (p.Leu215His) c.209T>A (p.Leu70His) c.551T>A (p.Leu184His) c.426T>A (n.426T>A) n.633T>A c.194T>A (p.Leu65His) c.-109T>A (n.-109T>A)
5	g.140695838T>C	CA361198390	HARS2	c.626T>C (p.Leu209Pro) c.404T>C (p.Leu135Pro) c.416T>C (p.Leu139Pro) c.204T>C (n.204T>C) c.592T>C c.644T>C (p.Leu215Pro) c.209T>C (p.Leu70Pro) c.551T>C (p.Leu184Pro) c.426T>C (n.426T>C) n.633T>C c.194T>C (p.Leu65Pro) c.-109T>C (n.-109T>C)	dbSNP gnomAD v2 gnomAD v4
5	g.140695838T>G	CA361198388	HARS2	c.626T>G (p.Leu209Arg) c.404T>G (p.Leu135Arg) c.416T>G (p.Leu139Arg) c.204T>G (n.204T>G) c.592T>G c.644T>G (p.Leu215Arg) c.209T>G (p.Leu70Arg) c.551T>G (p.Leu184Arg) c.426T>G (n.426T>G) n.633T>G c.194T>G (p.Leu65Arg) c.-109T>G (n.-109T>G)
5	g.140695838T=	CA1586867009	HARS2	c.626T= (p.Leu209=) c.404T= (p.Leu135=) c.416T= (p.Leu139=) c.204T= (n.204T=) c.592T= c.644T= (p.Leu215=) c.209T= (p.Leu70=) c.551T= (p.Leu184=) c.426T= (n.426T=) n.633T= c.194T= (p.Leu65=) c.-109T= (n.-109T=)
5	g.140695839C>A	CA446804457	HARS2	c.627C>A (p.Leu209=) c.405C>A (p.Leu135=) c.417C>A (p.Leu139=) c.205C>A (n.205C>A) c.593C>A c.645C>A (p.Leu215=) c.210C>A (p.Leu70=) c.552C>A (p.Leu184=) c.427C>A (n.427C>A) n.634C>A c.195C>A (p.Leu65=) c.-108C>A (n.-108C>A)
5	g.140695839C=	CA1586867011	HARS2	c.627C= (p.Leu209=) c.405C= (p.Leu135=) c.417C= (p.Leu139=) c.205C= (n.205C=) c.593C= c.645C= (p.Leu215=) c.210C= (p.Leu70=) c.552C= (p.Leu184=) c.427C= (n.427C=) n.634C= c.195C= (p.Leu65=) c.-108C= (n.-108C=)
5	g.140695839C>G	CA446804458	HARS2	c.627C>G (p.Leu209=) c.405C>G (p.Leu135=) c.417C>G (p.Leu139=) c.205C>G (n.205C>G) c.593C>G c.645C>G (p.Leu215=) c.210C>G (p.Leu70=) c.552C>G (p.Leu184=) c.427C>G (n.427C>G) n.634C>G c.195C>G (p.Leu65=) c.-108C>G (n.-108C>G)	ClinVar gnomAD v4
5	g.140695839C>T	CA446804460	HARS2	c.627C>T (p.Leu209=) c.405C>T (p.Leu135=) c.417C>T (p.Leu139=) c.205C>T (n.205C>T) c.593C>T c.645C>T (p.Leu215=) c.210C>T (p.Leu70=) c.552C>T (p.Leu184=) c.427C>T (n.427C>T) n.634C>T c.195C>T (p.Leu65=) c.-108C>T (n.-108C>T)	dbSNP gnomAD v2 gnomAD v4
5	g.140695840A>C	CA361198394	HARS2	c.628A>C (p.Ile210Leu) c.406A>C (p.Ile136Leu) c.418A>C (p.Ile140Leu) c.206A>C (n.206A>C) c.594A>C c.646A>C (p.Ile216Leu) c.211A>C (p.Ile71Leu) c.553A>C (p.Ile185Leu) c.428A>C (n.428A>C) n.635A>C c.196A>C (p.Ile66Leu) c.-107A>C (n.-107A>C)	gnomAD v4
5	g.140695840A>G	CA361198396	HARS2	c.628A>G (p.Ile210Val) c.406A>G (p.Ile136Val) c.418A>G (p.Ile140Val) c.206A>G (n.206A>G) c.594A>G c.646A>G (p.Ile216Val) c.211A>G (p.Ile71Val) c.553A>G (p.Ile185Val) c.428A>G (n.428A>G) n.635A>G c.196A>G (p.Ile66Val) c.-107A>G (n.-107A>G)	gnomAD v4
5	g.140695840A>T	CA361198397	HARS2	c.628A>T (p.Ile210Phe) c.406A>T (p.Ile136Phe) c.418A>T (p.Ile140Phe) c.206A>T (n.206A>T) c.594A>T c.646A>T (p.Ile216Phe) c.211A>T (p.Ile71Phe) c.553A>T (p.Ile185Phe) c.428A>T (n.428A>T) n.635A>T c.196A>T (p.Ile66Phe) c.-107A>T (n.-107A>T)
5	g.140695841T>A	CA361198400	HARS2	c.629T>A (p.Ile210Asn) c.407T>A (p.Ile136Asn) c.419T>A (p.Ile140Asn) c.207T>A (n.207T>A) c.595T>A c.647T>A (p.Ile216Asn) c.212T>A (p.Ile71Asn) c.554T>A (p.Ile185Asn) c.429T>A (n.429T>A) n.636T>A c.197T>A (p.Ile66Asn) c.-106T>A (n.-106T>A)
5	g.140695841T>C	CA361198401	HARS2	c.629T>C (p.Ile210Thr) c.407T>C (p.Ile136Thr) c.419T>C (p.Ile140Thr) c.207T>C (n.207T>C) c.595T>C c.647T>C (p.Ile216Thr) c.212T>C (p.Ile71Thr) c.554T>C (p.Ile185Thr) c.429T>C (n.429T>C) n.636T>C c.197T>C (p.Ile66Thr) c.-106T>C (n.-106T>C)	gnomAD v4
5	g.140695841T>G	CA361198404	HARS2	c.629T>G (p.Ile210Ser) c.407T>G (p.Ile136Ser) c.419T>G (p.Ile140Ser) c.207T>G (n.207T>G) c.595T>G c.647T>G (p.Ile216Ser) c.212T>G (p.Ile71Ser) c.554T>G (p.Ile185Ser) c.429T>G (n.429T>G) n.636T>G c.197T>G (p.Ile66Ser) c.-106T>G (n.-106T>G)
5	g.140695842T>A	CA446804462	HARS2	c.630T>A (p.Ile210=) c.408T>A (p.Ile136=) c.420T>A (p.Ile140=) c.208T>A (n.208T>A) c.596T>A c.648T>A (p.Ile216=) c.213T>A (p.Ile71=) c.555T>A (p.Ile185=) c.430T>A (n.430T>A) n.637T>A c.198T>A (p.Ile66=) c.-105T>A (n.-105T>A)
5	g.140695842T>C	CA446804463	HARS2	c.630T>C (p.Ile210=) c.408T>C (p.Ile136=) c.420T>C (p.Ile140=) c.208T>C (n.208T>C) c.596T>C c.648T>C (p.Ile216=) c.213T>C (p.Ile71=) c.555T>C (p.Ile185=) c.430T>C (n.430T>C) n.637T>C c.198T>C (p.Ile66=) c.-105T>C (n.-105T>C)	gnomAD v4
5	g.140695842T>G	CA361198406	HARS2	c.630T>G (p.Ile210Met) c.408T>G (p.Ile136Met) c.420T>G (p.Ile140Met) c.208T>G (n.208T>G) c.596T>G c.648T>G (p.Ile216Met) c.213T>G (p.Ile71Met) c.555T>G (p.Ile185Met) c.430T>G (n.430T>G) n.637T>G c.198T>G (p.Ile66Met) c.-105T>G (n.-105T>G)
5	g.140695843A=	CA1586867015	HARS2	c.631A= (p.Lys211=) c.409A= (p.Lys137=) c.421A= (p.Lys141=) c.209A= (n.209A=) c.597A= c.649A= (p.Lys217=) c.214A= (p.Lys72=) c.556A= (p.Lys186=) c.431A= (n.431A=) n.638A= c.199A= (p.Lys67=) c.-104A= (n.-104A=)
5	g.140695843A>C	CA361198407	HARS2	c.631A>C (p.Lys211Gln) c.409A>C (p.Lys137Gln) c.421A>C (p.Lys141Gln) c.209A>C (n.209A>C) c.597A>C c.649A>C (p.Lys217Gln) c.214A>C (p.Lys72Gln) c.556A>C (p.Lys186Gln) c.431A>C (n.431A>C) n.638A>C c.199A>C (p.Lys67Gln) c.-104A>C (n.-104A>C)
5	g.140695843A>G	CA361198409	HARS2	c.631A>G (p.Lys211Glu) c.409A>G (p.Lys137Glu) c.421A>G (p.Lys141Glu) c.209A>G (n.209A>G) c.597A>G c.649A>G (p.Lys217Glu) c.214A>G (p.Lys72Glu) c.556A>G (p.Lys186Glu) c.431A>G (n.431A>G) n.638A>G c.199A>G (p.Lys67Glu) c.-104A>G (n.-104A>G)
5	g.140695843A>T	CA3444476	HARS2	c.631A>T (p.Lys211Ter) c.409A>T (p.Lys137Ter) c.421A>T (p.Lys141Ter) c.209A>T (n.209A>T) c.597A>T c.649A>T (p.Lys217Ter) c.214A>T (p.Lys72Ter) c.556A>T (p.Lys186Ter) c.431A>T (n.431A>T) n.638A>T c.199A>T (p.Lys67Ter) c.-104A>T (n.-104A>T)	dbSNP ExAC gnomAD v4
5	g.140695844A>C	CA361198411	HARS2	c.632A>C (p.Lys211Thr) c.410A>C (p.Lys137Thr) c.422A>C (p.Lys141Thr) c.210A>C (n.210A>C) c.598A>C c.650A>C (p.Lys217Thr) c.215A>C (p.Lys72Thr) c.557A>C (p.Lys186Thr) c.432A>C (n.432A>C) n.639A>C c.200A>C (p.Lys67Thr) c.-103A>C (n.-103A>C)
5	g.140695844A>G	CA361198413	HARS2	c.632A>G (p.Lys211Arg) c.410A>G (p.Lys137Arg) c.422A>G (p.Lys141Arg) c.210A>G (n.210A>G) c.598A>G c.650A>G (p.Lys217Arg) c.215A>G (p.Lys72Arg) c.557A>G (p.Lys186Arg) c.432A>G (n.432A>G) n.639A>G c.200A>G (p.Lys67Arg) c.-103A>G (n.-103A>G)
5	g.140695844A>T	CA361198415	HARS2	c.632A>T (p.Lys211Met) c.410A>T (p.Lys137Met) c.422A>T (p.Lys141Met) c.210A>T (n.210A>T) c.598A>T c.650A>T (p.Lys217Met) c.215A>T (p.Lys72Met) c.557A>T (p.Lys186Met) c.432A>T (n.432A>T) n.639A>T c.200A>T (p.Lys67Met) c.-103A>T (n.-103A>T)

Number of alleles fetched