Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.65169932C>A	CA480742942	LEMD3	c.336C>A (p.Ala112=) n.350C>A
12	g.65169932C=	CA2042463335	LEMD3	c.336C= (p.Ala112=) n.350C=
12	g.65169932C>G	CA480742944	LEMD3	c.336C>G (p.Ala112=) n.350C>G	dbSNP
12	g.65169932C>T	CA6670712	LEMD3	c.336C>T (p.Ala112=) n.350C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169933T>A	CA385672672	LEMD3	c.337T>A (p.Ser113Thr) n.351T>A
12	g.65169933T>C	CA385672674	LEMD3	c.337T>C (p.Ser113Pro) n.351T>C
12	g.65169933T>G	CA385672676	LEMD3	c.337T>G (p.Ser113Ala) n.351T>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169933T=	CA2042463341	LEMD3	c.337T= (p.Ser113=) n.351T=
12	g.65169934C>A	CA385672678	LEMD3	c.338C>A (p.Ser113Tyr) n.352C>A
12	g.65169934C>G	CA385672680	LEMD3	c.338C>G (p.Ser113Cys) n.352C>G	gnomAD v4
12	g.65169934C>T	CA385672681	LEMD3	c.338C>T (p.Ser113Phe) n.352C>T	gnomAD v4
12	g.65169935T>A	CA480742950	LEMD3	c.339T>A (p.Ser113=) n.353T>A
12	g.65169935T>C	CA480742949	LEMD3	c.339T>C (p.Ser113=) n.353T>C	gnomAD v4
12	g.65169935T>G	CA480742951	LEMD3	c.339T>G (p.Ser113=) n.353T>G
12	g.65169935_65169956del	CA2697559344	LEMD3	c.339_360del (p.Glu116GlyfsTer?) n.353_374del	ClinVar
12	g.65169936G>A	CA238907678	LEMD3	c.340G>A (p.Gly114Ser) n.354G>A	dbSNP gnomAD v3 gnomAD v4
12	g.65169936G>C	CA385672684	LEMD3	c.340G>C (p.Gly114Arg) n.354G>C
12	g.65169936G=	CA2042463343	LEMD3	c.340G= (p.Gly114=) n.354G=
12	g.65169936G>T	CA385672687	LEMD3	c.340G>T (p.Gly114Cys) n.354G>T
12	g.65169941_65169962del	CA948625023	LEMD3	c.345_366del (p.Glu116GlyfsTer?) n.359_380del	gnomAD v3 gnomAD v4
12	g.65169937G>A	CA385672690	LEMD3	c.341G>A (p.Gly114Asp) n.355G>A	dbSNP gnomAD v2 gnomAD v4
12	g.65169937G>C	CA385672692	LEMD3	c.341G>C (p.Gly114Ala) n.355G>C	gnomAD v4
12	g.65169937G=	CA2042463349	LEMD3	c.341G= (p.Gly114=) n.355G=
12	g.65169937G>T	CA385672694	LEMD3	c.341G>T (p.Gly114Val) n.355G>T	dbSNP gnomAD v3 gnomAD v4
12	g.65169938C>A	CA480742956	LEMD3	c.342C>A (p.Gly114=) n.356C>A	dbSNP gnomAD v3 gnomAD v4
12	g.65169938C=	CA2042463354	LEMD3	c.342C= (p.Gly114=) n.356C=
12	g.65169938C>G	CA480742958	LEMD3	c.342C>G (p.Gly114=) n.356C>G	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.65169938C>T	CA480742957	LEMD3	c.342C>T (p.Gly114=) n.356C>T	gnomAD v4
12	g.65169939C>A	CA385672701	LEMD3	c.343C>A (p.Pro115Thr) n.357C>A	dbSNP
12	g.65169939C=	CA2042463359	LEMD3	c.343C= (p.Pro115=) n.357C=
12	g.65169939C>G	CA385672697	LEMD3	c.343C>G (p.Pro115Ala) n.357C>G
12	g.65169939C>T	CA385672700	LEMD3	c.343C>T (p.Pro115Ser) n.357C>T
12	g.65169940C>A	CA385672704	LEMD3	c.344C>A (p.Pro115Gln) n.358C>A
12	g.65169940C>G	CA385672707	LEMD3	c.344C>G (p.Pro115Arg) n.358C>G
12	g.65169940C>T	CA385672709	LEMD3	c.344C>T (p.Pro115Leu) n.358C>T
12	g.65169941A=	CA2042463364	LEMD3	c.345A= (p.Pro115=) n.359A=
12	g.65169941A>C	CA480742961	LEMD3	c.345A>C (p.Pro115=) n.359A>C	gnomAD v4
12	g.65169941A>G	CA6670713	LEMD3	c.345A>G (p.Pro115=) n.359A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169941A>T	CA480742963	LEMD3	c.345A>T (p.Pro115=) n.359A>T
12	g.65169942G>A	CA385672715	LEMD3	c.346G>A (p.Glu116Lys) n.360G>A
12	g.65169942G>C	CA385672717	LEMD3	c.346G>C (p.Glu116Gln) n.360G>C
12	g.65169942G>T	CA385672719	LEMD3	c.346G>T (p.Glu116Ter) n.360G>T
12	g.65169943A>C	CA385672722	LEMD3	c.347A>C (p.Glu116Ala) n.361A>C
12	g.65169943A>G	CA385672723	LEMD3	c.347A>G (p.Glu116Gly) n.361A>G	gnomAD v4
12	g.65169943A>T	CA385672725	LEMD3	c.347A>T (p.Glu116Val) n.361A>T
12	g.65169944G>A	CA480742967	LEMD3	c.348G>A (p.Glu116=) n.362G>A	gnomAD v4
12	g.65169944G>C	CA385672727	LEMD3	c.348G>C (p.Glu116Asp) n.362G>C
12	g.65169944G>T	CA385672729	LEMD3	c.348G>T (p.Glu116Asp) n.362G>T
12	g.65169945A=	CA2042463369	LEMD3	c.349A= (p.Ser117=) n.363A=
12	g.65169945A>C	CA385672732	LEMD3	c.349A>C (p.Ser117Arg) n.363A>C
12	g.65169945A>G	CA10638382	LEMD3	c.349A>G (p.Ser117Gly) n.363A>G	ClinVar dbSNP gnomAD v4
12	g.65169945A>T	CA385672734	LEMD3	c.349A>T (p.Ser117Cys) n.363A>T
12	g.65169946G>A	CA385672737	LEMD3	c.350G>A (p.Ser117Asn) n.364G>A	dbSNP gnomAD v3 gnomAD v4
12	g.65169946G>C	CA385672739	LEMD3	c.350G>C (p.Ser117Thr) n.364G>C
12	g.65169946G=	CA2042463374	LEMD3	c.350G= (p.Ser117=) n.364G=
12	g.65169946G>T	CA385672741	LEMD3	c.350G>T (p.Ser117Ile) n.364G>T	gnomAD v4
12	g.65169952_65169974del	CA2697559345	LEMD3	c.356_378del (p.Leu119ArgfsTer?) n.370_392del	ClinVar
12	g.65169947C>A	CA385672742	LEMD3	c.351C>A (p.Ser117Arg) n.365C>A	gnomAD v4
12	g.65169947C=	CA2042463378	LEMD3	c.351C= (p.Ser117=) n.365C=
12	g.65169947C>G	CA385672744	LEMD3	c.351C>G (p.Ser117Arg) n.365C>G
12	g.65169947C>T	CA6670714	LEMD3	c.351C>T (p.Ser117=) n.365C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169948C>A	CA385672748	LEMD3	c.352C>A (p.Leu118Ile) n.366C>A	gnomAD v4
12	g.65169948C=	CA2042463382	LEMD3	c.352C= (p.Leu118=) n.366C=
12	g.65169948C>G	CA385672750	LEMD3	c.352C>G (p.Leu118Val) n.366C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169948C>T	CA385672751	LEMD3	c.352C>T (p.Leu118Phe) n.366C>T
12	g.65169949T>A	CA385672754	LEMD3	c.353T>A (p.Leu118His) n.367T>A
12	g.65169949T>C	CA385672756	LEMD3	c.353T>C (p.Leu118Pro) n.367T>C	dbSNP gnomAD v2 gnomAD v4
12	g.65169949T>G	CA385672757	LEMD3	c.353T>G (p.Leu118Arg) n.367T>G
12	g.65169949T=	CA2042463384	LEMD3	c.353T= (p.Leu118=) n.367T=
12	g.65169950C>A	CA480742981	LEMD3	c.354C>A (p.Leu118=) n.368C>A	COSMIC
12	g.65169950C=	CA2042463386	LEMD3	c.354C= (p.Leu118=) n.368C=
12	g.65169950C>G	CA480742982	LEMD3	c.354C>G (p.Leu118=) n.368C>G
12	g.65169950C>T	CA480742983	LEMD3	c.354C>T (p.Leu118=) n.368C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.65169951C>A	CA385672761	LEMD3	c.355C>A (p.Leu119Met) n.369C>A	gnomAD v4
12	g.65169951C=	CA2042463389	LEMD3	c.355C= (p.Leu119=) n.369C=
12	g.65169951C>G	CA385672760	LEMD3	c.355C>G (p.Leu119Val) n.369C>G
12	g.65169951C>T	CA480742987	LEMD3	c.355C>T (p.Leu119=) n.369C>T	dbSNP gnomAD v4
12	g.65169952T>A	CA385672763	LEMD3	c.356T>A (p.Leu119Gln) n.370T>A
12	g.65169952T>C	CA385672765	LEMD3	c.356T>C (p.Leu119Pro) n.370T>C	gnomAD v4
12	g.65169952T>G	CA385672767	LEMD3	c.356T>G (p.Leu119Arg) n.370T>G
12	g.65169953G>A	CA480742990	LEMD3	c.357G>A (p.Leu119=) n.371G>A
12	g.65169953G>C	CA480742991	LEMD3	c.357G>C (p.Leu119=) n.371G>C
12	g.65169953G=	CA2042463393	LEMD3	c.357G= (p.Leu119=) n.371G=
12	g.65169953G>T	CA480742993	LEMD3	c.357G>T (p.Leu119=) n.371G>T	dbSNP gnomAD v4
12	g.65169955del	CA2619668196	LEMD3	c.359del (p.Gly120GlufsTer?) n.373del	gnomAD v4
12	g.65169954G>A	CA385672770	LEMD3	c.358G>A (p.Gly120Arg) n.372G>A	gnomAD v4
12	g.65169954G>C	CA385672772	LEMD3	c.358G>C (p.Gly120Arg) n.372G>C
12	g.65169954G>T	CA385672773	LEMD3	c.358G>T (p.Gly120Ter) n.372G>T
12	g.65169955G>A	CA385672775	LEMD3	c.359G>A (p.Gly120Glu) n.373G>A
12	g.65169955G>C	CA385672777	LEMD3	c.359G>C (p.Gly120Ala) n.373G>C
12	g.65169955G>T	CA385672779	LEMD3	c.359G>T (p.Gly120Val) n.373G>T
12	g.65169956A>C	CA480743002	LEMD3	c.360A>C (p.Gly120=) n.374A>C
12	g.65169956A>G	CA480743004	LEMD3	c.360A>G (p.Gly120=) n.374A>G	gnomAD v4
12	g.65169956A>T	CA480743006	LEMD3	c.360A>T (p.Gly120=) n.374A>T
12	g.65169957G>A	CA385672781	LEMD3	c.361G>A (p.Gly121Arg) n.375G>A	gnomAD v4
12	g.65169957G>C	CA385672783	LEMD3	c.361G>C (p.Gly121Arg) n.375G>C
12	g.65169957G>T	CA385672785	LEMD3	c.361G>T (p.Gly121Trp) n.375G>T
12	g.65169958G>A	CA385672790	LEMD3	c.362G>A (p.Gly121Glu) n.376G>A
12	g.65169958G>C	CA385672792	LEMD3	c.362G>C (p.Gly121Ala) n.376G>C
12	g.65169958G>T	CA385672788	LEMD3	c.362G>T (p.Gly121Val) n.376G>T	gnomAD v4
12	g.65169959G>A	CA480743013	LEMD3	c.363G>A (p.Gly121=) n.377G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169959G>C	CA480743014	LEMD3	c.363G>C (p.Gly121=) n.377G>C
12	g.65169959G=	CA2042463396	LEMD3	c.363G= (p.Gly121=) n.377G=
12	g.65169959G>T	CA480743015	LEMD3	c.363G>T (p.Gly121=) n.377G>T	ClinVar gnomAD v4
12	g.65169960C>A	CA385672798	LEMD3	c.364C>A (p.Pro122Thr) n.378C>A	gnomAD v4
12	g.65169960C>G	CA385672794	LEMD3	c.364C>G (p.Pro122Ala) n.378C>G
12	g.65169960C>T	CA385672796	LEMD3	c.364C>T (p.Pro122Ser) n.378C>T	gnomAD v4
12	g.65169961C>A	CA385672800	LEMD3	c.365C>A (p.Pro122His) n.379C>A
12	g.65169961C=	CA2042463400	LEMD3	c.365C= (p.Pro122=) n.379C=
12	g.65169961C>G	CA385672802	LEMD3	c.365C>G (p.Pro122Arg) n.379C>G	dbSNP gnomAD v3 gnomAD v4
12	g.65169961C>T	CA238907679	LEMD3	c.365C>T (p.Pro122Leu) n.379C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169962C>A	CA480743019	LEMD3	c.366C>A (p.Pro122=) n.380C>A
12	g.65169962C=	CA2042463405	LEMD3	c.366C= (p.Pro122=) n.380C=
12	g.65169962C>G	CA480743020	LEMD3	c.366C>G (p.Pro122=) n.380C>G
12	g.65169962C>T	CA480743022	LEMD3	c.366C>T (p.Pro122=) n.380C>T	dbSNP
12	g.65169962_65169963delinsCG	CA2042463404	LEMD3	c.366_367delinsCG (p.Pro122=) n.380_381delinsCG
12	g.65169963G>A	CA385672808	LEMD3	c.367G>A (p.Gly123Arg) n.381G>A	gnomAD v4 COSMIC
12	g.65169963G>C	CA385672806	LEMD3	c.367G>C (p.Gly123Arg) n.381G>C	gnomAD v4
12	g.65169963G>T	CA385672804	LEMD3	c.367G>T (p.Gly123Trp) n.381G>T	gnomAD v4
12	g.65169967dup	CA2619668197	LEMD3	c.371dup (p.Ala125ArgfsTer?) n.385dup	gnomAD v4
12	g.65169967del	CA605709976	LEMD3	c.371del (p.Gly124AlafsTer?) n.385del	dbSNP gnomAD v2 gnomAD v4
12	g.65169964G>A	CA385672810	LEMD3	c.368G>A (p.Gly123Glu) n.382G>A	dbSNP gnomAD v4
12	g.65169964G>C	CA385672811	LEMD3	c.368G>C (p.Gly123Ala) n.382G>C
12	g.65169964G=	CA2042463410	LEMD3	c.368G= (p.Gly123=) n.382G=
12	g.65169964G>T	CA385672813	LEMD3	c.368G>T (p.Gly123Val) n.382G>T
12	g.65169965G>A	CA480743027	LEMD3	c.369G>A (p.Gly123=) n.383G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169965G>C	CA480743030	LEMD3	c.369G>C (p.Gly123=) n.383G>C	dbSNP gnomAD v3 gnomAD v4
12	g.65169965G=	CA2042463413	LEMD3	c.369G= (p.Gly123=) n.383G=
12	g.65169965G>T	CA480743033	LEMD3	c.369G>T (p.Gly123=) n.383G>T
12	g.65169966G>A	CA385672816	LEMD3	c.370G>A (p.Gly124Ser) n.384G>A	gnomAD v4
12	g.65169966G>C	CA385672817	LEMD3	c.370G>C (p.Gly124Arg) n.384G>C
12	g.65169966G>T	CA385672819	LEMD3	c.370G>T (p.Gly124Cys) n.384G>T
12	g.65169967G>A	CA238907680	LEMD3	c.371G>A (p.Gly124Asp) n.385G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169967G>C	CA385672825	LEMD3	c.371G>C (p.Gly124Ala) n.385G>C	gnomAD v4
12	g.65169967G=	CA2042463415	LEMD3	c.371G= (p.Gly124=) n.385G=
12	g.65169967G>T	CA385672823	LEMD3	c.371G>T (p.Gly124Val) n.385G>T
12	g.65169967_65169982del	CA2619668198	LEMD3	c.371_386del (p.Gly124AlafsTer?) n.385_400del	gnomAD v4
12	g.65169968C>A	CA480743037	LEMD3	c.372C>A (p.Gly124=) n.386C>A	dbSNP gnomAD v4
12	g.65169968C=	CA2042463419	LEMD3	c.372C= (p.Gly124=) n.386C=
12	g.65169968C>G	CA480743040	LEMD3	c.372C>G (p.Gly124=) n.386C>G
12	g.65169968C>T	CA480743039	LEMD3	c.372C>T (p.Gly124=) n.386C>T	dbSNP gnomAD v2 gnomAD v4
12	g.65169969G>A	CA385672827	LEMD3	c.373G>A (p.Ala125Thr) n.387G>A	dbSNP gnomAD v2 gnomAD v4
12	g.65169969G>C	CA385672829	LEMD3	c.373G>C (p.Ala125Pro) n.387G>C	dbSNP
12	g.65169969G=	CA2042463423	LEMD3	c.373G= (p.Ala125=) n.387G=
12	g.65169969G>T	CA385672831	LEMD3	c.373G>T (p.Ala125Ser) n.387G>T	ClinVar dbSNP gnomAD v4
12	g.65169969_65169970delinsTT	CA2739272175	LEMD3	c.373_374delinsTT (p.Ala125Phe) n.387_388delinsTT	ClinVar
12	g.65169970C>A	CA385672833	LEMD3	c.374C>A (p.Ala125Asp) n.388C>A
12	g.65169970C=	CA2042463428	LEMD3	c.374C= (p.Ala125=) n.388C=
12	g.65169970C>G	CA385672835	LEMD3	c.374C>G (p.Ala125Gly) n.388C>G
12	g.65169970C>T	CA385672836	LEMD3	c.374C>T (p.Ala125Val) n.388C>T	dbSNP gnomAD v4
12	g.65169970_65169993del	CA2619668199	LEMD3	c.374_397del (p.Ala125_Ser133delinsGly) n.388_411del	gnomAD v4
12	g.65169971C>A	CA480743048	LEMD3	c.375C>A (p.Ala125=) n.389C>A	gnomAD v4
12	g.65169971C>G	CA480743050	LEMD3	c.375C>G (p.Ala125=) n.389C>G	gnomAD v4
12	g.65169971C>T	CA480743054	LEMD3	c.375C>T (p.Ala125=) n.389C>T	gnomAD v4
12	g.65169972T>A	CA385672838	LEMD3	c.376T>A (p.Ser126Thr) n.390T>A	dbSNP gnomAD v3 gnomAD v4
12	g.65169972T>C	CA385672840	LEMD3	c.376T>C (p.Ser126Pro) n.390T>C	dbSNP gnomAD v4
12	g.65169972T>G	CA385672841	LEMD3	c.376T>G (p.Ser126Ala) n.390T>G
12	g.65169972T=	CA2042463432	LEMD3	c.376T= (p.Ser126=) n.390T=
12	g.65169973C>A	CA385672843	LEMD3	c.377C>A (p.Ser126Tyr) n.391C>A
12	g.65169973C>G	CA385672845	LEMD3	c.377C>G (p.Ser126Cys) n.391C>G
12	g.65169973C>T	CA385672847	LEMD3	c.377C>T (p.Ser126Phe) n.391C>T	gnomAD v4
12	g.65169977_65169985dup	CA2575215269	LEMD3	c.381_389dup (p.Ala130_Ala131insAlaProAla) n.395_403dup	gnomAD v4
12	g.65169974C>A	CA480743058	LEMD3	c.378C>A (p.Ser126=) n.392C>A
12	g.65169974C=	CA2042463437	LEMD3	c.378C= (p.Ser126=) n.392C=
12	g.65169974C>G	CA480743062	LEMD3	c.378C>G (p.Ser126=) n.392C>G	gnomAD v4
12	g.65169974C>T	CA6670715	LEMD3	c.378C>T (p.Ser126=) n.392C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169975_65169976del	CA2619668200	LEMD3	c.379_380del (p.Ala127ArgfsTer?) n.393_394del	gnomAD v4
12	g.65169975G>A	CA238907681	LEMD3	c.379G>A (p.Ala127Thr) n.393G>A	dbSNP gnomAD v4
12	g.65169975G>C	CA238907682	LEMD3	c.379G>C (p.Ala127Pro) n.393G>C	dbSNP gnomAD v2 gnomAD v4
12	g.65169975G=	CA2042463441	LEMD3	c.379G= (p.Ala127=) n.393G=
12	g.65169975G>T	CA385672853	LEMD3	c.379G>T (p.Ala127Ser) n.393G>T
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

Number of alleles fetched