Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.65169967_65169982del	CA2619668198	LEMD3	c.371_386del (p.Gly124AlafsTer?) n.385_400del	gnomAD v4
12	g.65169970_65169993del	CA2619668199	LEMD3	c.374_397del (p.Ala125_Ser133delinsGly) n.388_411del	gnomAD v4
12	g.65169977_65169985dup	CA2575215269	LEMD3	c.381_389dup (p.Ala130_Ala131insAlaProAla) n.395_403dup	gnomAD v4
12	g.65169975_65169976del	CA2619668200	LEMD3	c.379_380del (p.Ala127ArgfsTer?) n.393_394del	gnomAD v4
12	g.65169976C>A	CA385672854	LEMD3	c.380C>A (p.Ala127Asp) n.394C>A	gnomAD v4
12	g.65169976C=	CA2042463447	LEMD3	c.380C= (p.Ala127=) n.394C=
12	g.65169976C>G	CA385672856	LEMD3	c.380C>G (p.Ala127Gly) n.394C>G
12	g.65169976C>T	CA10638383	LEMD3	c.380C>T (p.Ala127Val) n.394C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169977C>A	CA480743071	LEMD3	c.381C>A (p.Ala127=) n.395C>A	gnomAD v4
12	g.65169977C>G	CA480743073	LEMD3	c.381C>G (p.Ala127=) n.395C>G
12	g.65169977C>T	CA480743076	LEMD3	c.381C>T (p.Ala127=) n.395C>T	gnomAD v4
12	g.65169978_65169979del	CA2619668201	LEMD3	c.382_383del (p.Ala128ProfsTer?) n.396_397del	gnomAD v4
12	g.65169978G>A	CA385672860	LEMD3	c.382G>A (p.Ala128Thr) n.396G>A	dbSNP gnomAD v2 gnomAD v4
12	g.65169978G>C	CA385672862	LEMD3	c.382G>C (p.Ala128Pro) n.396G>C
12	g.65169978G=	CA2042463450	LEMD3	c.382G= (p.Ala128=) n.396G=
12	g.65169978G>T	CA385672863	LEMD3	c.382G>T (p.Ala128Ser) n.396G>T	ClinVar gnomAD v4
12	g.65169979C>A	CA385672866	LEMD3	c.383C>A (p.Ala128Asp) n.397C>A	gnomAD v4
12	g.65169979C=	CA2042463453	LEMD3	c.383C= (p.Ala128=) n.397C=
12	g.65169979C>G	CA385672868	LEMD3	c.383C>G (p.Ala128Gly) n.397C>G
12	g.65169979C>T	CA6670716	LEMD3	c.383C>T (p.Ala128Val) n.397C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169983del	CA2619668202	LEMD3	c.387del (p.Ala130ArgfsTer?) n.401del	ClinVar gnomAD v4
12	g.65169980C>A	CA480743080	LEMD3	c.384C>A (p.Ala128=) n.398C>A	gnomAD v4
12	g.65169980C=	CA2042463456	LEMD3	c.384C= (p.Ala128=) n.398C=
12	g.65169980C>G	CA480743081	LEMD3	c.384C>G (p.Ala128=) n.398C>G
12	g.65169980C>T	CA480743082	LEMD3	c.384C>T (p.Ala128=) n.398C>T	dbSNP gnomAD v2 gnomAD v4
12	g.65169981C>A	CA385672871	LEMD3	c.385C>A (p.Pro129Thr) n.399C>A
12	g.65169981C=	CA2042463458	LEMD3	c.385C= (p.Pro129=) n.399C=
12	g.65169981C>G	CA385672873	LEMD3	c.385C>G (p.Pro129Ala) n.399C>G	gnomAD v4
12	g.65169981C>T	CA385672875	LEMD3	c.385C>T (p.Pro129Ser) n.399C>T	dbSNP gnomAD v3 gnomAD v4
12	g.65169982C>A	CA385672882	LEMD3	c.386C>A (p.Pro129His) n.400C>A
12	g.65169982C=	CA2042463460	LEMD3	c.386C= (p.Pro129=) n.400C=
12	g.65169982C>G	CA385672880	LEMD3	c.386C>G (p.Pro129Arg) n.400C>G
12	g.65169982C>T	CA385672878	LEMD3	c.386C>T (p.Pro129Leu) n.400C>T	dbSNP gnomAD v3 gnomAD v4
12	g.65169983C>A	CA480743088	LEMD3	c.387C>A (p.Pro129=) n.401C>A	gnomAD v4
12	g.65169983C=	CA2042463462	LEMD3	c.387C= (p.Pro129=) n.401C=
12	g.65169983C>G	CA480743090	LEMD3	c.387C>G (p.Pro129=) n.401C>G	dbSNP gnomAD v3 gnomAD v4
12	g.65169983C>T	CA480743091	LEMD3	c.387C>T (p.Pro129=) n.401C>T	dbSNP gnomAD v4
12	g.65169984G>A	CA385672884	LEMD3	c.388G>A (p.Ala130Thr) n.402G>A	gnomAD v4
12	g.65169984G>C	CA385672886	LEMD3	c.388G>C (p.Ala130Pro) n.402G>C	gnomAD v4
12	g.65169984G>T	CA385672888	LEMD3	c.388G>T (p.Ala130Ser) n.402G>T	gnomAD v4
12	g.65169985C>A	CA385672890	LEMD3	c.389C>A (p.Ala130Glu) n.403C>A	gnomAD v4
12	g.65169985C=	CA2042463465	LEMD3	c.389C= (p.Ala130=) n.403C=
12	g.65169985C>G	CA385672892	LEMD3	c.389C>G (p.Ala130Gly) n.403C>G
12	g.65169985C>T	CA385672893	LEMD3	c.389C>T (p.Ala130Val) n.403C>T	dbSNP gnomAD v2 gnomAD v4
12	g.65169986G>A	CA480743097	LEMD3	c.390G>A (p.Ala130=) n.404G>A	dbSNP gnomAD v2 gnomAD v4
12	g.65169986G>C	CA480743098	LEMD3	c.390G>C (p.Ala130=) n.404G>C
12	g.65169986G=	CA2042463473	LEMD3	c.390G= (p.Ala130=) n.404G=
12	g.65169986G>T	CA480743099	LEMD3	c.390G>T (p.Ala130=) n.404G>T
12	g.65169987del	CA2619668203	LEMD3	c.391del (p.Ala131LeufsTer?) n.405del	gnomAD v4
12	g.65169987G>A	CA385672896	LEMD3	c.391G>A (p.Ala131Thr) n.405G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.65169987G>C	CA385672898	LEMD3	c.391G>C (p.Ala131Pro) n.405G>C
12	g.65169987G=	CA2042463476	LEMD3	c.391G= (p.Ala131=) n.405G=
12	g.65169987G>T	CA385672900	LEMD3	c.391G>T (p.Ala131Ser) n.405G>T	gnomAD v4
12	g.65169988C>A	CA385672902	LEMD3	c.392C>A (p.Ala131Asp) n.406C>A	dbSNP gnomAD v4
12	g.65169988C=	CA2042463479	LEMD3	c.392C= (p.Ala131=) n.406C=
12	g.65169988C>G	CA385672904	LEMD3	c.392C>G (p.Ala131Gly) n.406C>G	gnomAD v4
12	g.65169988C>T	CA385672906	LEMD3	c.392C>T (p.Ala131Val) n.406C>T	gnomAD v4
12	g.65169989T>A	CA480743118	LEMD3	c.393T>A (p.Ala131=) n.407T>A	gnomAD v4
12	g.65169989T>C	CA480743115	LEMD3	c.393T>C (p.Ala131=) n.407T>C	gnomAD v4
12	g.65169989T>G	CA480743113	LEMD3	c.393T>G (p.Ala131=) n.407T>G	gnomAD v4
12	g.65169990G>A	CA385672912	LEMD3	c.394G>A (p.Gly132Ser) n.408G>A	gnomAD v4
12	g.65169990G>C	CA385672908	LEMD3	c.394G>C (p.Gly132Arg) n.408G>C
12	g.65169990G>T	CA385672910	LEMD3	c.394G>T (p.Gly132Cys) n.408G>T	gnomAD v4
12	g.65169991G>A	CA385672915	LEMD3	c.395G>A (p.Gly132Asp) n.409G>A	dbSNP gnomAD v4
12	g.65169991G>C	CA385672919	LEMD3	c.395G>C (p.Gly132Ala) n.409G>C
12	g.65169991G=	CA2042463482	LEMD3	c.395G= (p.Gly132=) n.409G=
12	g.65169991G>T	CA385672917	LEMD3	c.395G>T (p.Gly132Val) n.409G>T	dbSNP gnomAD v4
12	g.65169994_65169996dup	CA2619668204	LEMD3	c.398_400dup (p.Ser133_Lys134insSer) n.412_414dup	gnomAD v4
12	g.65169992C>A	CA480743134	LEMD3	c.396C>A (p.Gly132=) n.410C>A	gnomAD v4
12	g.65169992C=	CA2042463485	LEMD3	c.396C= (p.Gly132=) n.410C=
12	g.65169992C>G	CA480743131	LEMD3	c.396C>G (p.Gly132=) n.410C>G
12	g.65169992C>T	CA480743128	LEMD3	c.396C>T (p.Gly132=) n.410C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169993A=	CA2042463487	LEMD3	c.397A= (p.Ser133=) n.411A=
12	g.65169993A>C	CA385672921	LEMD3	c.397A>C (p.Ser133Arg) n.411A>C
12	g.65169993A>G	CA385672924	LEMD3	c.397A>G (p.Ser133Gly) n.411A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169993A>T	CA385672922	LEMD3	c.397A>T (p.Ser133Cys) n.411A>T
12	g.65169994G>A	CA385672926	LEMD3	c.398G>A (p.Ser133Asn) n.412G>A	gnomAD v4
12	g.65169994G>C	CA385672930	LEMD3	c.398G>C (p.Ser133Thr) n.412G>C
12	g.65169994G>T	CA385672927	LEMD3	c.398G>T (p.Ser133Ile) n.412G>T	gnomAD v4
12	g.65169995C>A	CA385672932	LEMD3	c.399C>A (p.Ser133Arg) n.413C>A	gnomAD v4
12	g.65169995C>G	CA385672934	LEMD3	c.399C>G (p.Ser133Arg) n.413C>G
12	g.65169995C>T	CA480743140	LEMD3	c.399C>T (p.Ser133=) n.413C>T	gnomAD v4
12	g.65169996A>C	CA385672937	LEMD3	c.400A>C (p.Lys134Gln) n.414A>C
12	g.65169996A>G	CA385672938	LEMD3	c.400A>G (p.Lys134Glu) n.414A>G	gnomAD v4
12	g.65169996A>T	CA385672939	LEMD3	c.400A>T (p.Lys134Ter) n.414A>T
12	g.65169997A>C	CA385672942	LEMD3	c.401A>C (p.Lys134Thr) n.415A>C
12	g.65169997A>G	CA385672944	LEMD3	c.401A>G (p.Lys134Arg) n.415A>G	gnomAD v4
12	g.65169997A>T	CA385672945	LEMD3	c.401A>T (p.Lys134Ile) n.415A>T	gnomAD v4
12	g.65169998A>C	CA385672947	LEMD3	c.402A>C (p.Lys134Asn) n.416A>C	gnomAD v4
12	g.65169998A>G	CA480743145	LEMD3	c.402A>G (p.Lys134=) n.416A>G
12	g.65169998A>T	CA385672949	LEMD3	c.402A>T (p.Lys134Asn) n.416A>T
12	g.65169999G>A	CA385672955	LEMD3	c.403G>A (p.Val135Met) n.417G>A
12	g.65169999G>C	CA385672952	LEMD3	c.403G>C (p.Val135Leu) n.417G>C
12	g.65169999G>T	CA385672953	LEMD3	c.403G>T (p.Val135Leu) n.417G>T	gnomAD v4
12	g.65169999_65170002delinsGTGC	CA2042463491	LEMD3	c.403_406delinsGTGC (p.Val135=) n.417_420delinsGTGC
12	g.65170000T>A	CA385672958	LEMD3	c.404T>A (p.Val135Glu) n.418T>A
12	g.65170000T>C	CA385672959	LEMD3	c.404T>C (p.Val135Ala) n.418T>C	gnomAD v4
12	g.65170000T>G	CA385672961	LEMD3	c.404T>G (p.Val135Gly) n.418T>G
12	g.65170005_65170007del	CA691002667	LEMD3	c.409_411del (p.Leu137del) n.423_425del	dbSNP gnomAD v3 gnomAD v4
12	g.65170000_65170001insACCCTGGAGAGAAAATGGCGGCGGCA	CA2796330075	LEMD3	c.404_405insACCCTGGAGAGAAAATGGCGGCGGCA (p.Leu136ProfsTer?) n.418_419insACCCTGGAGAGAAAATGGCGGCGGCA
12	g.65170001G>A	CA480743159	LEMD3	c.405G>A (p.Val135=) n.419G>A	gnomAD v4
12	g.65170001G>C	CA480743162	LEMD3	c.405G>C (p.Val135=) n.419G>C
12	g.65170001G>T	CA480743165	LEMD3	c.405G>T (p.Val135=) n.419G>T	gnomAD v4
12	g.65170002C>A	CA385672964	LEMD3	c.406C>A (p.Leu136Met) n.420C>A	gnomAD v4
12	g.65170002C=	CA2042463495	LEMD3	c.406C= (p.Leu136=) n.420C=
12	g.65170002C>G	CA385672965	LEMD3	c.406C>G (p.Leu136Val) n.420C>G	gnomAD v4
12	g.65170002C>T	CA480743167	LEMD3	c.406C>T (p.Leu136=) n.420C>T	ClinVar dbSNP gnomAD v4
12	g.65170003T>A	CA385672967	LEMD3	c.407T>A (p.Leu136Gln) n.421T>A	gnomAD v4
12	g.65170003T>C	CA385672969	LEMD3	c.407T>C (p.Leu136Pro) n.421T>C	dbSNP gnomAD v4
12	g.65170003T>G	CA385672971	LEMD3	c.407T>G (p.Leu136Arg) n.421T>G
12	g.65170003T=	CA2042463499	LEMD3	c.407T= (p.Leu136=) n.421T=
12	g.65170004G>A	CA480743171	LEMD3	c.408G>A (p.Leu136=) n.422G>A	dbSNP gnomAD v4
12	g.65170004G>C	CA480743172	LEMD3	c.408G>C (p.Leu136=) n.422G>C
12	g.65170004G>T	CA480743176	LEMD3	c.408G>T (p.Leu136=) n.422G>T	gnomAD v4
12	g.65170005C>A	CA385672973	LEMD3	c.409C>A (p.Leu137Met) n.423C>A	gnomAD v4
12	g.65170005C>G	CA385672975	LEMD3	c.409C>G (p.Leu137Val) n.423C>G
12	g.65170005C>T	CA480743186	LEMD3	c.409C>T (p.Leu137=) n.423C>T
12	g.65170006T>A	CA385672979	LEMD3	c.410T>A (p.Leu137Gln) n.424T>A
12	g.65170006T>C	CA385672981	LEMD3	c.410T>C (p.Leu137Pro) n.424T>C	gnomAD v4
12	g.65170006T>G	CA385672977	LEMD3	c.410T>G (p.Leu137Arg) n.424T>G
12	g.65170006_65170007delinsTG	CA2042463501	LEMD3	c.410_411delinsTG (p.Leu137=) n.424_425delinsTG
12	g.65170006_65170007insTC	CA2796330076	LEMD3	c.410_411insTC (p.Gly138ArgfsTer?) n.424_425insTC
12	g.65170007G>A	CA480743191	LEMD3	c.411G>A (p.Leu137=) n.425G>A	gnomAD v4
12	g.65170007G>C	CA480743195	LEMD3	c.411G>C (p.Leu137=) n.425G>C
12	g.65170007G>T	CA480743198	LEMD3	c.411G>T (p.Leu137=) n.425G>T
12	g.65170009dup	CA948625064	LEMD3	c.413dup (p.Phe139LeufsTer?) n.427dup	dbSNP gnomAD v3 gnomAD v4
12	g.65170009del	CA605709977	LEMD3	c.413del (p.Gly138AlafsTer?) n.427del	dbSNP gnomAD v2 gnomAD v4
12	g.65170008G>A	CA385672983	LEMD3	c.412G>A (p.Gly138Ser) n.426G>A	gnomAD v4
12	g.65170008G>C	CA385672984	LEMD3	c.412G>C (p.Gly138Arg) n.426G>C
12	g.65170008G>T	CA385672986	LEMD3	c.412G>T (p.Gly138Cys) n.426G>T	gnomAD v4
12	g.65170008_65170009insC	CA2796330077	LEMD3	c.412_413insC (p.Gly138AlafsTer?) n.426_427insC
12	g.65170009G>A	CA385672988	LEMD3	c.413G>A (p.Gly138Asp) n.427G>A	gnomAD v4
12	g.65170009G>C	CA385672990	LEMD3	c.413G>C (p.Gly138Ala) n.427G>C
12	g.65170009G>T	CA385672992	LEMD3	c.413G>T (p.Gly138Val) n.427G>T
12	g.65170010C>A	CA480743202	LEMD3	c.414C>A (p.Gly138=) n.428C>A	gnomAD v4
12	g.65170010C>G	CA480743203	LEMD3	c.414C>G (p.Gly138=) n.428C>G	gnomAD v4
12	g.65170010C>T	CA480743205	LEMD3	c.414C>T (p.Gly138=) n.428C>T
12	g.65170011T>A	CA385672994	LEMD3	c.415T>A (p.Phe139Ile) n.429T>A
12	g.65170011T>C	CA385672996	LEMD3	c.415T>C (p.Phe139Leu) n.429T>C	gnomAD v4
12	g.65170011T>G	CA385672998	LEMD3	c.415T>G (p.Phe139Val) n.429T>G
12	g.65170012T>A	CA385673000	LEMD3	c.416T>A (p.Phe139Tyr) n.430T>A
12	g.65170012T>C	CA385673001	LEMD3	c.416T>C (p.Phe139Ser) n.430T>C
12	g.65170012T>G	CA385673004	LEMD3	c.416T>G (p.Phe139Cys) n.430T>G
12	g.65170013C>A	CA385673008	LEMD3	c.417C>A (p.Phe139Leu) n.431C>A	gnomAD v4
12	g.65170013C>G	CA385673006	LEMD3	c.417C>G (p.Phe139Leu) n.431C>G
12	g.65170013C>T	CA480743215	LEMD3	c.417C>T (p.Phe139=) n.431C>T	gnomAD v4
12	g.65170014A>C	CA385673011	LEMD3	c.418A>C (p.Ser140Arg) n.432A>C
12	g.65170014A>G	CA385673012	LEMD3	c.418A>G (p.Ser140Gly) n.432A>G	gnomAD v4
12	g.65170014A>T	CA385673014	LEMD3	c.418A>T (p.Ser140Cys) n.432A>T
12	g.65170015G>A	CA385673016	LEMD3	c.419G>A (p.Ser140Asn) n.433G>A	gnomAD v4
12	g.65170015G>C	CA385673018	LEMD3	c.419G>C (p.Ser140Thr) n.433G>C
12	g.65170015G>T	CA385673020	LEMD3	c.419G>T (p.Ser140Ile) n.433G>T	gnomAD v4
12	g.65170016C>A	CA385673022	LEMD3	c.420C>A (p.Ser140Arg) n.434C>A	gnomAD v4
12	g.65170016C>G	CA385673023	LEMD3	c.420C>G (p.Ser140Arg) n.434C>G
12	g.65170016C>T	CA480743226	LEMD3	c.420C>T (p.Ser140=) n.434C>T	gnomAD v4
12	g.65170017T>A	CA385673024	LEMD3	c.421T>A (p.Ser141Thr) n.435T>A
12	g.65170017T>C	CA385673025	LEMD3	c.421T>C (p.Ser141Pro) n.435T>C
12	g.65170017T>G	CA385673026	LEMD3	c.421T>G (p.Ser141Ala) n.435T>G
12	g.65170018C>A	CA385673027	LEMD3	c.422C>A (p.Ser141Ter) n.436C>A	gnomAD v4
12	g.65170018C>G	CA385673028	LEMD3	c.422C>G (p.Ser141Trp) n.436C>G	gnomAD v4
12	g.65170018C>T	CA385673029	LEMD3	c.422C>T (p.Ser141Leu) n.436C>T	gnomAD v4
12	g.65170019G>A	CA480743242	LEMD3	c.423G>A (p.Ser141=) n.437G>A	gnomAD v4
12	g.65170019G>C	CA480743243	LEMD3	c.423G>C (p.Ser141=) n.437G>C
12	g.65170019G=	CA2042463507	LEMD3	c.423G= (p.Ser141=) n.437G=
12	g.65170019G>T	CA480743244	LEMD3	c.423G>T (p.Ser141=) n.437G>T	dbSNP gnomAD v2 gnomAD v4
12	g.65170020G>A	CA385673031	LEMD3	c.424G>A (p.Asp142Asn) n.438G>A	gnomAD v4
12	g.65170020G>C	CA385673032	LEMD3	c.424G>C (p.Asp142His) n.438G>C
12	g.65170020G>T	CA385673030	LEMD3	c.424G>T (p.Asp142Tyr) n.438G>T	gnomAD v4
12	g.65170021A>C	CA385673034	LEMD3	c.425A>C (p.Asp142Ala) n.439A>C
12	g.65170021A>G	CA385673035	LEMD3	c.425A>G (p.Asp142Gly) n.439A>G	gnomAD v4
12	g.65170021A>T	CA385673037	LEMD3	c.425A>T (p.Asp142Val) n.439A>T
12	g.65170022C>A	CA385673038	LEMD3	c.426C>A (p.Asp142Glu) n.440C>A	gnomAD v4
12	g.65170022C=	CA2042463510	LEMD3	c.426C= (p.Asp142=) n.440C=
12	g.65170022C>G	CA385673040	LEMD3	c.426C>G (p.Asp142Glu) n.440C>G	ClinVar
12	g.65170022C>T	CA480743255	LEMD3	c.426C>T (p.Asp142=) n.440C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.65170022_65170031del	CA2619668205	LEMD3	c.426_435del (p.Asp142GlufsTer?) n.440_449del	gnomAD v4
12	g.65170023G>A	CA385673042	LEMD3	c.427G>A (p.Glu143Lys) n.441G>A	ClinVar gnomAD v4
12	g.65170023G>C	CA385673044	LEMD3	c.427G>C (p.Glu143Gln) n.441G>C	gnomAD v4
12	g.65170023G>T	CA385673045	LEMD3	c.427G>T (p.Glu143Ter) n.441G>T	gnomAD v4
12	g.65170024A>C	CA385673048	LEMD3	c.428A>C (p.Glu143Ala) n.442A>C
12	g.65170024A>G	CA385673050	LEMD3	c.428A>G (p.Glu143Gly) n.442A>G
12	g.65170024A>T	CA385673052	LEMD3	c.428A>T (p.Glu143Val) n.442A>T
12	g.65170025G>A	CA238907683	LEMD3	c.429G>A (p.Glu143=) n.443G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65170025G>C	CA385673053	LEMD3	c.429G>C (p.Glu143Asp) n.443G>C
12	g.65170025G=	CA2042463512	LEMD3	c.429G= (p.Glu143=) n.443G=
12	g.65170025G>T	CA385673055	LEMD3	c.429G>T (p.Glu143Asp) n.443G>T
12	g.65170026T>A	CA385673061	LEMD3	c.430T>A (p.Ser144Thr) n.444T>A	gnomAD v4
12	g.65170026T>C	CA385673059	LEMD3	c.430T>C (p.Ser144Pro) n.444T>C	gnomAD v4
12	g.65170026T>G	CA385673057	LEMD3	c.430T>G (p.Ser144Ala) n.444T>G
12	g.65170027C>A	CA385673063	LEMD3	c.431C>A (p.Ser144Ter) n.445C>A	gnomAD v4
12	g.65170027C=	CA2042463518	LEMD3	c.431C= (p.Ser144=) n.445C=
12	g.65170027C>G	CA385673064	LEMD3	c.431C>G (p.Ser144Trp) n.445C>G
12	g.65170027C>T	CA385673066	LEMD3	c.431C>T (p.Ser144Leu) n.445C>T	dbSNP gnomAD v4
12	g.65170028G>A	CA480743272	LEMD3	c.432G>A (p.Ser144=) n.446G>A	gnomAD v4
12	g.65170028G>C	CA480743274	LEMD3	c.432G>C (p.Ser144=) n.446G>C
12	g.65170028G>T	CA480743276	LEMD3	c.432G>T (p.Ser144=) n.446G>T
12	g.65170029G>A	CA385673069	LEMD3	c.433G>A (p.Asp145Asn) n.447G>A	gnomAD v4
12	g.65170029G>C	CA385673071	LEMD3	c.433G>C (p.Asp145His) n.447G>C
12	g.65170029G>T	CA385673074	LEMD3	c.433G>T (p.Asp145Tyr) n.447G>T	gnomAD v4
12	g.65170030A>C	CA385673076	LEMD3	c.434A>C (p.Asp145Ala) n.448A>C
12	g.65170030A>G	CA385673077	LEMD3	c.434A>G (p.Asp145Gly) n.448A>G	gnomAD v4
12	g.65170030A>T	CA385673079	LEMD3	c.434A>T (p.Asp145Val) n.448A>T
12	g.65170031C>A	CA385673081	LEMD3	c.435C>A (p.Asp145Glu) n.449C>A	dbSNP gnomAD v4
12	g.65170031C>G	CA385673083	LEMD3	c.435C>G (p.Asp145Glu) n.449C>G	gnomAD v4
12	g.65170031C>T	CA480743294	LEMD3	c.435C>T (p.Asp145=) n.449C>T	gnomAD v4
12	g.65170032G>A	CA385673085	LEMD3	c.436G>A (p.Val146Met) n.450G>A	gnomAD v4
12	g.65170032G>C	CA385673086	LEMD3	c.436G>C (p.Val146Leu) n.450G>C	gnomAD v4
12	g.65170032G>T	CA385673089	LEMD3	c.436G>T (p.Val146Leu) n.450G>T
12	g.65170033T>A	CA385673092	LEMD3	c.437T>A (p.Val146Glu) n.451T>A
12	g.65170033T>C	CA385673094	LEMD3	c.437T>C (p.Val146Ala) n.451T>C
12	g.65170033T>G	CA385673091	LEMD3	c.437T>G (p.Val146Gly) n.451T>G
12	g.65170034G>A	CA480743308	LEMD3	c.438G>A (p.Val146=) n.452G>A	dbSNP gnomAD v2 gnomAD v4
12	g.65170034G>C	CA480743309	LEMD3	c.438G>C (p.Val146=) n.452G>C	gnomAD v4
12	g.65170034G=	CA2042463521	LEMD3	c.438G= (p.Val146=) n.452G=
12	g.65170034G>T	CA480743310	LEMD3	c.438G>T (p.Val146=) n.452G>T	gnomAD v4
12	g.65170035G>A	CA385673097	LEMD3	c.439G>A (p.Glu147Lys) n.453G>A
12	g.65170035G>C	CA385673100	LEMD3	c.439G>C (p.Glu147Gln) n.453G>C
12	g.65170035G>T	CA385673102	LEMD3	c.439G>T (p.Glu147Ter) n.453G>T	gnomAD v4
12	g.65170036A>C	CA385673104	LEMD3	c.440A>C (p.Glu147Ala) n.454A>C
12	g.65170036A>G	CA385673106	LEMD3	c.440A>G (p.Glu147Gly) n.454A>G	gnomAD v4
12	g.65170036A>T	CA385673108	LEMD3	c.440A>T (p.Glu147Val) n.454A>T	gnomAD v4
12	g.65170037G>A	CA480743326	LEMD3	c.441G>A (p.Glu147=) n.455G>A
12	g.65170037G>C	CA385673112	LEMD3	c.441G>C (p.Glu147Asp) n.455G>C
12	g.65170037G>T	CA385673111	LEMD3	c.441G>T (p.Glu147Asp) n.455G>T	gnomAD v4
12	g.65170038G>A	CA385673114	LEMD3	c.442G>A (p.Ala148Thr) n.456G>A	gnomAD v4
12	g.65170038G>C	CA385673116	LEMD3	c.442G>C (p.Ala148Pro) n.456G>C
12	g.65170038G>T	CA385673118	LEMD3	c.442G>T (p.Ala148Ser) n.456G>T	gnomAD v4
12	g.65170039C>A	CA385673120	LEMD3	c.443C>A (p.Ala148Asp) n.457C>A	gnomAD v4
12	g.65170039C>G	CA385673122	LEMD3	c.443C>G (p.Ala148Gly) n.457C>G
12	g.65170039C>T	CA385673123	LEMD3	c.443C>T (p.Ala148Val) n.457C>T	gnomAD v4
12	g.65170040C>A	CA480743339	LEMD3	c.444C>A (p.Ala148=) n.458C>A	gnomAD v4
12	g.65170040C=	CA2042463524	LEMD3	c.444C= (p.Ala148=) n.458C=
12	g.65170040C>G	CA480743345	LEMD3	c.444C>G (p.Ala148=) n.458C>G
12	g.65170040C>T	CA480743347	LEMD3	c.444C>T (p.Ala148=) n.458C>T	dbSNP gnomAD v4
12	g.65170041A=	CA2042463526	LEMD3	c.445A= (p.Ser149=) n.459A=
12	g.65170041A>C	CA385673125	LEMD3	c.445A>C (p.Ser149Arg) n.459A>C
12	g.65170041A>G	CA385673128	LEMD3	c.445A>G (p.Ser149Gly) n.459A>G	dbSNP gnomAD v2 gnomAD v4
12	g.65170041A>T	CA385673126	LEMD3	c.445A>T (p.Ser149Cys) n.459A>T
12	g.65170042G>A	CA385673131	LEMD3	c.446G>A (p.Ser149Asn) n.460G>A	gnomAD v4
12	g.65170042G>C	CA385673132	LEMD3	c.446G>C (p.Ser149Thr) n.460G>C	ClinVar dbSNP gnomAD v4
12	g.65170042G>T	CA385673134	LEMD3	c.446G>T (p.Ser149Ile) n.460G>T	gnomAD v4
12	g.65170043T>A	CA385673137	LEMD3	c.447T>A (p.Ser149Arg) n.461T>A
12	g.65170043T>C	CA480743360	LEMD3	c.447T>C (p.Ser149=) n.461T>C	dbSNP gnomAD v2 gnomAD v4
12	g.65170043T>G	CA385673139	LEMD3	c.447T>G (p.Ser149Arg) n.461T>G
12	g.65170043T=	CA2042463529	LEMD3	c.447T= (p.Ser149=) n.461T=
12	g.65170043_65170044delinsTC	CA2042463530	LEMD3	c.447_448delinsTC (p.Ser149=) n.461_462delinsTC
12	g.65170044C>A	CA385673141	LEMD3	c.448C>A (p.Pro150Thr) n.462C>A	gnomAD v4
12	g.65170044C>G	CA385673142	LEMD3	c.448C>G (p.Pro150Ala) n.462C>G
12	g.65170044C>T	CA385673144	LEMD3	c.448C>T (p.Pro150Ser) n.462C>T
12	g.65170047del	CA605709978	LEMD3	c.451del (p.Arg151GlyfsTer?) n.465del	dbSNP gnomAD v2 gnomAD v4
12	g.65170045C>A	CA385673146	LEMD3	c.449C>A (p.Pro150His) n.463C>A	gnomAD v4
12	g.65170045C=	CA2042463536	LEMD3	c.449C= (p.Pro150=) n.463C=
12	g.65170045C>G	CA385673147	LEMD3	c.449C>G (p.Pro150Arg) n.463C>G
12	g.65170045C>T	CA385673149	LEMD3	c.449C>T (p.Pro150Leu) n.463C>T	dbSNP gnomAD v2 gnomAD v4
12	g.65170046C>A	CA480743369	LEMD3	c.450C>A (p.Pro150=) n.464C>A	gnomAD v4
12	g.65170046C>G	CA480743367	LEMD3	c.450C>G (p.Pro150=) n.464C>G	gnomAD v4
12	g.65170046C>T	CA480743366	LEMD3	c.450C>T (p.Pro150=) n.464C>T	gnomAD v4
12	g.65170047C>A	CA480743370	LEMD3	c.451C>A (p.Arg151=) n.465C>A	gnomAD v4
12	g.65170047C=	CA2042463541	LEMD3	c.451C= (p.Arg151=) n.465C=
12	g.65170047C>G	CA385673151	LEMD3	c.451C>G (p.Arg151Gly) n.465C>G	gnomAD v4
12	g.65170047C>T	CA385673153	LEMD3	c.451C>T (p.Arg151Trp) n.465C>T	dbSNP gnomAD v2 gnomAD v4
12	g.65170048G>A	CA385673156	LEMD3	c.452G>A (p.Arg151Gln) n.466G>A	gnomAD v4
12	g.65170048G>C	CA385673159	LEMD3	c.452G>C (p.Arg151Pro) n.466G>C	gnomAD v4
12	g.65170048G>T	CA385673158	LEMD3	c.452G>T (p.Arg151Leu) n.466G>T	gnomAD v4
12	g.65170050del	CA2619668206	LEMD3	c.454del (p.Asp152ThrfsTer?) n.468del	gnomAD v4
12	g.65170049G>A	CA480743375	LEMD3	c.453G>A (p.Arg151=) n.467G>A	dbSNP gnomAD v2 gnomAD v4
12	g.65170049G>C	CA480743378	LEMD3	c.453G>C (p.Arg151=) n.467G>C
12	g.65170049G=	CA2042463545	LEMD3	c.453G= (p.Arg151=) n.467G=
12	g.65170049G>T	CA480743376	LEMD3	c.453G>T (p.Arg151=) n.467G>T	gnomAD v4
12	g.65170050G>A	CA385673161	LEMD3	c.454G>A (p.Asp152Asn) n.468G>A
12	g.65170050G>C	CA385673165	LEMD3	c.454G>C (p.Asp152His) n.468G>C	gnomAD v4
12	g.65170050G>T	CA385673163	LEMD3	c.454G>T (p.Asp152Tyr) n.468G>T	gnomAD v4
12	g.65170051A>C	CA385673167	LEMD3	c.455A>C (p.Asp152Ala) n.469A>C
12	g.65170051A>G	CA385673168	LEMD3	c.455A>G (p.Asp152Gly) n.469A>G	gnomAD v4
12	g.65170051A>T	CA385673170	LEMD3	c.455A>T (p.Asp152Val) n.469A>T
12	g.65170052C>A	CA385673173	LEMD3	c.456C>A (p.Asp152Glu) n.470C>A	gnomAD v4
12	g.65170052C>G	CA385673174	LEMD3	c.456C>G (p.Asp152Glu) n.470C>G
12	g.65170052C>T	CA480743391	LEMD3	c.456C>T (p.Asp152=) n.470C>T	gnomAD v4
12	g.65170053del	CA2619668207	LEMD3	c.457del (p.Gln153ArgfsTer30) n.471del	gnomAD v4
12	g.65170053C>A	CA385673177	LEMD3	c.457C>A (p.Gln153Lys) n.471C>A	gnomAD v4
12	g.65170053C=	CA2042463551	LEMD3	c.457C= (p.Gln153=) n.471C=
12	g.65170053C>G	CA385673179	LEMD3	c.457C>G (p.Gln153Glu) n.471C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65170053C>T	CA238907684	LEMD3	c.457C>T (p.Gln153Ter) n.471C>T	ClinVar dbSNP gnomAD v4
12	g.65170054A>C	CA385673183	LEMD3	c.458A>C (p.Gln153Pro) n.472A>C
12	g.65170054A>G	CA385673184	LEMD3	c.458A>G (p.Gln153Arg) n.472A>G	gnomAD v4
12	g.65170054A>T	CA385673185	LEMD3	c.458A>T (p.Gln153Leu) n.472A>T
12	g.65170055G>A	CA480743398	LEMD3	c.459G>A (p.Gln153=) n.473G>A
12	g.65170055G>C	CA385673188	LEMD3	c.459G>C (p.Gln153His) n.473G>C
12	g.65170055G>T	CA385673189	LEMD3	c.459G>T (p.Gln153His) n.473G>T
12	g.65170056G>A	CA385673191	LEMD3	c.460G>A (p.Ala154Thr) n.474G>A	ClinVar gnomAD v4
12	g.65170056G>C	CA385673205	LEMD3	c.460G>C (p.Ala154Pro) n.474G>C
12	g.65170056G>T	CA385673206	LEMD3	c.460G>T (p.Ala154Ser) n.474G>T
12	g.65170057C>A	CA385673209	LEMD3	c.461C>A (p.Ala154Asp) n.475C>A	gnomAD v4
12	g.65170057C=	CA2042463557	LEMD3	c.461C= (p.Ala154=) n.475C=
12	g.65170057C>G	CA385673211	LEMD3	c.461C>G (p.Ala154Gly) n.475C>G
12	g.65170057C>T	CA385673213	LEMD3	c.461C>T (p.Ala154Val) n.475C>T	ClinVar dbSNP gnomAD v4
12	g.65170057_65170060delinsCCGG	CA2042463555	LEMD3	c.461_464delinsCCGG (p.Ala154=) n.475_478delinsCCGG
12	g.65170058C>A	CA480743405	LEMD3	c.462C>A (p.Ala154=) n.476C>A	gnomAD v4
12	g.65170058C=	CA2042463561	LEMD3	c.462C= (p.Ala154=) n.476C=
12	g.65170058C>G	CA480743407	LEMD3	c.462C>G (p.Ala154=) n.476C>G	gnomAD v4
12	g.65170058C>T	CA238907685	LEMD3	c.462C>T (p.Ala154=) n.476C>T	dbSNP gnomAD v3 gnomAD v4
12	g.65170067_65170069dup	CA2508040196	LEMD3	c.471_473dup (p.Gly158_Arg159insGly) n.485_487dup	gnomAD v4
12	g.65170067_65170069del	CA6670717	LEMD3	c.471_473del (p.Gly158del) n.485_487del	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.65170059G>A	CA385673218	LEMD3	c.463G>A (p.Gly155Ser) n.477G>A	gnomAD v4
12	g.65170059G>C	CA385673219	LEMD3	c.463G>C (p.Gly155Arg) n.477G>C
12	g.65170059G>T	CA385673222	LEMD3	c.463G>T (p.Gly155Cys) n.477G>T	gnomAD v4
12	g.65170060G>A	CA385673226	LEMD3	c.464G>A (p.Gly155Asp) n.478G>A	dbSNP gnomAD v2 gnomAD v4
12	g.65170060G>C	CA385673228	LEMD3	c.464G>C (p.Gly155Ala) n.478G>C	gnomAD v4
12	g.65170060G=	CA2042463564	LEMD3	c.464G= (p.Gly155=) n.478G=
12	g.65170060G>T	CA385673224	LEMD3	c.464G>T (p.Gly155Val) n.478G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65170061C>A	CA480743417	LEMD3	c.465C>A (p.Gly155=) n.479C>A	gnomAD v4
12	g.65170061C>G	CA480743418	LEMD3	c.465C>G (p.Gly155=) n.479C>G
12	g.65170061C>T	CA480743419	LEMD3	c.465C>T (p.Gly155=) n.479C>T	ClinVar gnomAD v4
12	g.65170062G>A	CA385673230	LEMD3	c.466G>A (p.Gly156Ser) n.480G>A	gnomAD v4
12	g.65170062G>C	CA385673232	LEMD3	c.466G>C (p.Gly156Arg) n.480G>C
12	g.65170062G>T	CA385673234	LEMD3	c.466G>T (p.Gly156Cys) n.480G>T	gnomAD v4
12	g.65170063G>A	CA385673236	LEMD3	c.467G>A (p.Gly156Asp) n.481G>A	gnomAD v4
12	g.65170063G>C	CA385673239	LEMD3	c.467G>C (p.Gly156Ala) n.481G>C
12	g.65170063G>T	CA385673240	LEMD3	c.467G>T (p.Gly156Val) n.481G>T	gnomAD v4
12	g.65170064C>A	CA480743423	LEMD3	c.468C>A (p.Gly156=) n.482C>A	gnomAD v4
12	g.65170064C=	CA2042463569	LEMD3	c.468C= (p.Gly156=) n.482C=
12	g.65170064C>G	CA480743425	LEMD3	c.468C>G (p.Gly156=) n.482C>G
12	g.65170064C>T	CA480743424	LEMD3	c.468C>T (p.Gly156=) n.482C>T	gnomAD v4
12	g.65170064_65170065insA	CA605709979	LEMD3	c.468_469insA (p.Gly157ArgfsTer28) n.482_483insA	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65170064_65170065insT	CA2619668209	LEMD3	c.468_469insT (p.Gly157TrpfsTer28) n.482_483insT	gnomAD v4
12	g.65170065G>A	CA385673243	LEMD3	c.469G>A (p.Gly157Ser) n.483G>A	gnomAD v4
12	g.65170065G>C	CA385673245	LEMD3	c.469G>C (p.Gly157Arg) n.483G>C
12	g.65170065G>T	CA385673247	LEMD3	c.469G>T (p.Gly157Cys) n.483G>T	gnomAD v4
12	g.65170066dup	CA2619668208	LEMD3	c.470dup (p.Gly158ArgfsTer27) n.484dup	gnomAD v4
12	g.65170066G>A	CA385673250	LEMD3	c.470G>A (p.Gly157Asp) n.484G>A	gnomAD v4
12	g.65170066G>C	CA385673251	LEMD3	c.470G>C (p.Gly157Ala) n.484G>C	gnomAD v4
12	g.65170066G>T	CA385673253	LEMD3	c.470G>T (p.Gly157Val) n.484G>T	gnomAD v4
12	g.65170066_65170067insGCTGGAGACTTCAGTT	CA2619668210	LEMD3	c.470_471insGCTGGAGACTTCAGTT (p.Gly158LeufsTer32) n.484_485insGCTGGAGACTTCAGTT	gnomAD v4
12	g.65170067del	CA2619668211	LEMD3	c.471del (p.Arg159GlyfsTer24) n.485del	gnomAD v4
12	g.65170067C>A	CA480743442	LEMD3	c.471C>A (p.Gly157=) n.485C>A	gnomAD v4
12	g.65170067C=	CA2042463573	LEMD3	c.471C= (p.Gly157=) n.485C=
12	g.65170067C>G	CA480743445	LEMD3	c.471C>G (p.Gly157=) n.485C>G	gnomAD v4
12	g.65170067C>T	CA238907686	LEMD3	c.471C>T (p.Gly157=) n.485C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65170067_65170068insTGGAGACTTCAGTTCA	CA2619668212	LEMD3	c.471_472insTGGAGACTTCAGTTCA (p.Gly158TrpfsTer32) n.485_486insTGGAGACTTCAGTTCA	gnomAD v4
12	g.65170068G>A	CA385673260	LEMD3	c.472G>A (p.Gly158Arg) n.486G>A	gnomAD v4
12	g.65170068G>C	CA385673256	LEMD3	c.472G>C (p.Gly158Arg) n.486G>C
12	g.65170068G=	CA2042463576	LEMD3	c.472G= (p.Gly158=) n.486G=
12	g.65170068G>T	CA385673258	LEMD3	c.472G>T (p.Gly158Trp) n.486G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65170069G>A	CA385673263	LEMD3	c.473G>A (p.Gly158Glu) n.487G>A	gnomAD v4
12	g.65170069G>C	CA385673265	LEMD3	c.473G>C (p.Gly158Ala) n.487G>C
12	g.65170069G>T	CA385673266	LEMD3	c.473G>T (p.Gly158Val) n.487G>T	gnomAD v4
12	g.65170070G>A	CA480743454	LEMD3	c.474G>A (p.Gly158=) n.488G>A
12	g.65170070G>C	CA480743456	LEMD3	c.474G>C (p.Gly158=) n.488G>C
12	g.65170070G>T	CA480743457	LEMD3	c.474G>T (p.Gly158=) n.488G>T	gnomAD v4
12	g.65170071A=	CA2042463578	LEMD3	c.475A= (p.Arg159=) n.489A=
12	g.65170071A>C	CA480743458	LEMD3	c.475A>C (p.Arg159=) n.489A>C
12	g.65170071A>G	CA385673268	LEMD3	c.475A>G (p.Arg159Gly) n.489A>G	dbSNP gnomAD v4
12	g.65170071A>T	CA385673270	LEMD3	c.475A>T (p.Arg159Trp) n.489A>T	gnomAD v4
12	g.65170072G>A	CA385673271	LEMD3	c.476G>A (p.Arg159Lys) n.490G>A	gnomAD v4
12	g.65170072G>C	CA385673273	LEMD3	c.476G>C (p.Arg159Thr) n.490G>C
12	g.65170072G>T	CA385673275	LEMD3	c.476G>T (p.Arg159Met) n.490G>T
12	g.65170073G>A	CA480743463	LEMD3	c.477G>A (p.Arg159=) n.491G>A	dbSNP
12	g.65170073G>C	CA385673277	LEMD3	c.477G>C (p.Arg159Ser) n.491G>C
12	g.65170073G=	CA2042463584	LEMD3	c.477G= (p.Arg159=) n.491G=
12	g.65170073G>T	CA385673278	LEMD3	c.477G>T (p.Arg159Ser) n.491G>T	gnomAD v4
12	g.65170074A=	CA2042463587	LEMD3	c.478A= (p.Lys160=) n.492A=
12	g.65170074A>C	CA385673279	LEMD3	c.478A>C (p.Lys160Gln) n.492A>C
12	g.65170074A>G	CA385673281	LEMD3	c.478A>G (p.Lys160Glu) n.492A>G	dbSNP
12	g.65170074A>T	CA385673283	LEMD3	c.478A>T (p.Lys160Ter) n.492A>T
12	g.65170076del	CA2619668213	LEMD3	c.480del (p.Asp161ThrfsTer22) n.494del	gnomAD v4
12	g.65170075A>C	CA385673287	LEMD3	c.479A>C (p.Lys160Thr) n.493A>C
12	g.65170075A>G	CA385673289	LEMD3	c.479A>G (p.Lys160Arg) n.493A>G	ClinVar gnomAD v4
12	g.65170075A>T	CA385673285	LEMD3	c.479A>T (p.Lys160Ile) n.493A>T
12	g.65170076A>C	CA385673291	LEMD3	c.480A>C (p.Lys160Asn) n.494A>C
12	g.65170076A>G	CA480743468	LEMD3	c.480A>G (p.Lys160=) n.494A>G	ClinVar dbSNP gnomAD v4
12	g.65170076A>T	CA385673293	LEMD3	c.480A>T (p.Lys160Asn) n.494A>T	gnomAD v4

Number of alleles fetched