Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.65169892_65169894del	CA2619668193	LEMD3	c.296_298del (p.Ser99del) n.310_312del	gnomAD v4
12	g.65169891T>A	CA385672492	LEMD3	c.295T>A (p.Ser99Thr) n.309T>A
12	g.65169891T>C	CA385672494	LEMD3	c.295T>C (p.Ser99Pro) n.309T>C
12	g.65169891T>G	CA385672497	LEMD3	c.295T>G (p.Ser99Ala) n.309T>G
12	g.65169892C>A	CA385672500	LEMD3	c.296C>A (p.Ser99Tyr) n.310C>A	gnomAD v4
12	g.65169892C=	CA2042463263	LEMD3	c.296C= (p.Ser99=) n.310C=
12	g.65169892C>G	CA385672505	LEMD3	c.296C>G (p.Ser99Cys) n.310C>G
12	g.65169892C>T	CA385672502	LEMD3	c.296C>T (p.Ser99Phe) n.310C>T	dbSNP gnomAD v3 gnomAD v4
12	g.65169893C>A	CA480743605	LEMD3	c.297C>A (p.Ser99=) n.311C>A	gnomAD v4
12	g.65169893C=	CA2042463265	LEMD3	c.297C= (p.Ser99=) n.311C=
12	g.65169893C>G	CA480743607	LEMD3	c.297C>G (p.Ser99=) n.311C>G	gnomAD v4
12	g.65169893C>T	CA238907673	LEMD3	c.297C>T (p.Ser99=) n.311C>T	dbSNP gnomAD v4
12	g.65169894T>A	CA385672507	LEMD3	c.298T>A (p.Tyr100Asn) n.312T>A
12	g.65169894T>C	CA385672510	LEMD3	c.298T>C (p.Tyr100His) n.312T>C	gnomAD v4
12	g.65169894T>G	CA385672511	LEMD3	c.298T>G (p.Tyr100Asp) n.312T>G
12	g.65169895A=	CA2042463270	LEMD3	c.299A= (p.Tyr100=) n.313A=
12	g.65169895A>C	CA385672513	LEMD3	c.299A>C (p.Tyr100Ser) n.313A>C
12	g.65169895A>G	CA238907674	LEMD3	c.299A>G (p.Tyr100Cys) n.313A>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169895A>T	CA6670710	LEMD3	c.299A>T (p.Tyr100Phe) n.313A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169896C>A	CA385672519	LEMD3	c.300C>A (p.Tyr100Ter) n.314C>A
12	g.65169896C=	CA2042463280	LEMD3	c.300C= (p.Tyr100=) n.314C=
12	g.65169896C>G	CA385672521	LEMD3	c.300C>G (p.Tyr100Ter) n.314C>G
12	g.65169896C>T	CA480743610	LEMD3	c.300C>T (p.Tyr100=) n.314C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169897T>A	CA385672524	LEMD3	c.301T>A (p.Leu101Ile) n.315T>A	dbSNP gnomAD v2 gnomAD v4
12	g.65169897T>C	CA480743611	LEMD3	c.301T>C (p.Leu101=) n.315T>C	dbSNP
12	g.65169897T>G	CA385672527	LEMD3	c.301T>G (p.Leu101Val) n.315T>G
12	g.65169897T=	CA2042463283	LEMD3	c.301T= (p.Leu101=) n.315T=
12	g.65169898T>A	CA385672530	LEMD3	c.302T>A (p.Leu101Ter) n.316T>A
12	g.65169898T>C	CA385672532	LEMD3	c.302T>C (p.Leu101Ser) n.316T>C
12	g.65169898T>G	CA385672535	LEMD3	c.302T>G (p.Leu101Ter) n.316T>G
12	g.65169899A>C	CA385672536	LEMD3	c.303A>C (p.Leu101Phe) n.317A>C	gnomAD v4
12	g.65169899A>G	CA480743618	LEMD3	c.303A>G (p.Leu101=) n.317A>G
12	g.65169899A>T	CA385672537	LEMD3	c.303A>T (p.Leu101Phe) n.317A>T
12	g.65169900C>A	CA480743621	LEMD3	c.304C>A (p.Arg102=) n.318C>A	dbSNP gnomAD v2 gnomAD v4
12	g.65169900C=	CA2042463286	LEMD3	c.304C= (p.Arg102=) n.318C=
12	g.65169900C>G	CA385672538	LEMD3	c.304C>G (p.Arg102Gly) n.318C>G	ClinVar gnomAD v4
12	g.65169900C>T	CA385672539	LEMD3	c.304C>T (p.Arg102Trp) n.318C>T
12	g.65169901G>A	CA385672540	LEMD3	c.305G>A (p.Arg102Gln) n.319G>A	ClinVar dbSNP gnomAD v4
12	g.65169901G>C	CA385672541	LEMD3	c.305G>C (p.Arg102Pro) n.319G>C
12	g.65169901G=	CA2042463287	LEMD3	c.305G= (p.Arg102=) n.319G=
12	g.65169901G>T	CA385672542	LEMD3	c.305G>T (p.Arg102Leu) n.319G>T
12	g.65169902G>A	CA480743631	LEMD3	c.306G>A (p.Arg102=) n.320G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.65169902G>C	CA480743632	LEMD3	c.306G>C (p.Arg102=) n.320G>C
12	g.65169902G=	CA2042463289	LEMD3	c.306G= (p.Arg102=) n.320G=
12	g.65169902G>T	CA480743633	LEMD3	c.306G>T (p.Arg102=) n.320G>T	gnomAD v4
12	g.65169903A>C	CA385672543	LEMD3	c.307A>C (p.Thr103Pro) n.321A>C	gnomAD v3 gnomAD v4
12	g.65169903A>G	CA385672544	LEMD3	c.307A>G (p.Thr103Ala) n.321A>G	gnomAD v4
12	g.65169903A>T	CA385672545	LEMD3	c.307A>T (p.Thr103Ser) n.321A>T
12	g.65169904C>A	CA385672546	LEMD3	c.308C>A (p.Thr103Asn) n.322C>A
12	g.65169904C>G	CA385672547	LEMD3	c.308C>G (p.Thr103Ser) n.322C>G	gnomAD v4
12	g.65169904C>T	CA385672548	LEMD3	c.308C>T (p.Thr103Ile) n.322C>T	gnomAD v4
12	g.65169905T>A	CA480742874	LEMD3	c.309T>A (p.Thr103=) n.323T>A
12	g.65169905T>C	CA480742876	LEMD3	c.309T>C (p.Thr103=) n.323T>C
12	g.65169905T>G	CA480742879	LEMD3	c.309T>G (p.Thr103=) n.323T>G
12	g.65169906C>A	CA385672549	LEMD3	c.310C>A (p.Pro104Thr) n.324C>A
12	g.65169906C=	CA2042463292	LEMD3	c.310C= (p.Pro104=) n.324C=
12	g.65169906C>G	CA385672550	LEMD3	c.310C>G (p.Pro104Ala) n.324C>G	gnomAD v4
12	g.65169906C>T	CA238907675	LEMD3	c.310C>T (p.Pro104Ser) n.324C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169907del	CA2573148962	LEMD3	c.311del (p.Pro104LeufsTer?) n.325del	ClinVar dbSNP
12	g.65169907C>A	CA385672553	LEMD3	c.311C>A (p.Pro104His) n.325C>A	gnomAD v4
12	g.65169907C=	CA2042463295	LEMD3	c.311C= (p.Pro104=) n.325C=
12	g.65169907C>G	CA385672552	LEMD3	c.311C>G (p.Pro104Arg) n.325C>G
12	g.65169907C>T	CA385672551	LEMD3	c.311C>T (p.Pro104Leu) n.325C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.65169908T>A	CA480742884	LEMD3	c.312T>A (p.Pro104=) n.326T>A	gnomAD v4
12	g.65169908T>C	CA480742882	LEMD3	c.312T>C (p.Pro104=) n.326T>C	gnomAD v4
12	g.65169908T>G	CA480742883	LEMD3	c.312T>G (p.Pro104=) n.326T>G	dbSNP
12	g.65169908T=	CA2042463299	LEMD3	c.312T= (p.Pro104=) n.326T=
12	g.65169909G>A	CA385672554	LEMD3	c.313G>A (p.Gly105Arg) n.327G>A	gnomAD v4
12	g.65169909G>C	CA385672555	LEMD3	c.313G>C (p.Gly105Arg) n.327G>C
12	g.65169909G>T	CA385672556	LEMD3	c.313G>T (p.Gly105Trp) n.327G>T
12	g.65169913dup	CA2619668194	LEMD3	c.317dup (p.Leu107ProfsTer?) n.331dup	gnomAD v4
12	g.65169910G>A	CA385672557	LEMD3	c.314G>A (p.Gly105Glu) n.328G>A	gnomAD v4
12	g.65169910G>C	CA385672558	LEMD3	c.314G>C (p.Gly105Ala) n.328G>C
12	g.65169910G=	CA2042463303	LEMD3	c.314G= (p.Gly105=) n.328G=
12	g.65169910G>T	CA385672560	LEMD3	c.314G>T (p.Gly105Val) n.328G>T	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.65169911G>A	CA480742890	LEMD3	c.315G>A (p.Gly105=) n.329G>A	ClinVar gnomAD v4
12	g.65169911G>C	CA480742891	LEMD3	c.315G>C (p.Gly105=) n.329G>C	gnomAD v4
12	g.65169911G>T	CA480742894	LEMD3	c.315G>T (p.Gly105=) n.329G>T
12	g.65169912G>A	CA385672563	LEMD3	c.316G>A (p.Gly106Ser) n.330G>A
12	g.65169912G>C	CA385672564	LEMD3	c.316G>C (p.Gly106Arg) n.330G>C
12	g.65169912G>T	CA385672566	LEMD3	c.316G>T (p.Gly106Cys) n.330G>T
12	g.65169913G>A	CA385672569	LEMD3	c.317G>A (p.Gly106Asp) n.331G>A	gnomAD v4
12	g.65169913G>C	CA385672571	LEMD3	c.317G>C (p.Gly106Ala) n.331G>C
12	g.65169913G=	CA2042463305	LEMD3	c.317G= (p.Gly106=) n.331G=
12	g.65169913G>T	CA385672574	LEMD3	c.317G>T (p.Gly106Val) n.331G>T	dbSNP gnomAD v4
12	g.65169914C>A	CA480742897	LEMD3	c.318C>A (p.Gly106=) n.332C>A	gnomAD v4
12	g.65169914C>G	CA480742899	LEMD3	c.318C>G (p.Gly106=) n.332C>G	gnomAD v4
12	g.65169914C>T	CA480742901	LEMD3	c.318C>T (p.Gly106=) n.332C>T	ClinVar
12	g.65169915C>A	CA385672576	LEMD3	c.319C>A (p.Leu107Met) n.333C>A	gnomAD v4
12	g.65169915C=	CA2042463309	LEMD3	c.319C= (p.Leu107=) n.333C=
12	g.65169915C>G	CA385672578	LEMD3	c.319C>G (p.Leu107Val) n.333C>G
12	g.65169915C>T	CA480742904	LEMD3	c.319C>T (p.Leu107=) n.333C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.65169916T>A	CA385672583	LEMD3	c.320T>A (p.Leu107Gln) n.334T>A	gnomAD v4
12	g.65169916T>C	CA385672585	LEMD3	c.320T>C (p.Leu107Pro) n.334T>C	gnomAD v4
12	g.65169916T>G	CA385672581	LEMD3	c.320T>G (p.Leu107Arg) n.334T>G	gnomAD v4
12	g.65169917G>A	CA6670711	LEMD3	c.321G>A (p.Leu107=) n.335G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.65169917G>C	CA238907676	LEMD3	c.321G>C (p.Leu107=) n.335G>C	dbSNP gnomAD v3 gnomAD v4
12	g.65169917G=	CA2042463313	LEMD3	c.321G= (p.Leu107=) n.335G=
12	g.65169917G>T	CA480742908	LEMD3	c.321G>T (p.Leu107=) n.335G>T
12	g.65169918T>A	CA385672590	LEMD3	c.322T>A (p.Cys108Ser) n.336T>A
12	g.65169918T>C	CA385672593	LEMD3	c.322T>C (p.Cys108Arg) n.336T>C
12	g.65169918T>G	CA385672595	LEMD3	c.322T>G (p.Cys108Gly) n.336T>G
12	g.65169919G>A	CA385672598	LEMD3	c.323G>A (p.Cys108Tyr) n.337G>A	dbSNP
12	g.65169919G>C	CA385672599	LEMD3	c.323G>C (p.Cys108Ser) n.337G>C
12	g.65169919G>T	CA385672602	LEMD3	c.323G>T (p.Cys108Phe) n.337G>T
12	g.65169920C>A	CA385672605	LEMD3	c.324C>A (p.Cys108Ter) n.338C>A
12	g.65169920C>G	CA385672608	LEMD3	c.324C>G (p.Cys108Trp) n.338C>G
12	g.65169920C>T	CA480742914	LEMD3	c.324C>T (p.Cys108=) n.338C>T
12	g.65169921C>A	CA480742915	LEMD3	c.325C>A (p.Arg109=) n.339C>A
12	g.65169921C>G	CA385672611	LEMD3	c.325C>G (p.Arg109Gly) n.339C>G	gnomAD v4
12	g.65169921C>T	CA385672613	LEMD3	c.325C>T (p.Arg109Ter) n.339C>T	gnomAD v4
12	g.65169922G>A	CA385672616	LEMD3	c.326G>A (p.Arg109Gln) n.340G>A	gnomAD v4
12	g.65169922G>C	CA385672618	LEMD3	c.326G>C (p.Arg109Pro) n.340G>C
12	g.65169922G>T	CA385672621	LEMD3	c.326G>T (p.Arg109Leu) n.340G>T
12	g.65169923A=	CA2042463320	LEMD3	c.327A= (p.Arg109=) n.341A=
12	g.65169923A>C	CA480742919	LEMD3	c.327A>C (p.Arg109=) n.341A>C	dbSNP gnomAD v2 gnomAD v4
12	g.65169923A>G	CA480742920	LEMD3	c.327A>G (p.Arg109=) n.341A>G
12	g.65169923A>T	CA480742921	LEMD3	c.327A>T (p.Arg109=) n.341A>T
12	g.65169924A>C	CA385672625	LEMD3	c.328A>C (p.Ile110Leu) n.342A>C
12	g.65169924A>G	CA385672629	LEMD3	c.328A>G (p.Ile110Val) n.342A>G
12	g.65169924A>T	CA385672626	LEMD3	c.328A>T (p.Ile110Phe) n.342A>T
12	g.65169925T>A	CA385672631	LEMD3	c.329T>A (p.Ile110Asn) n.343T>A
12	g.65169925T>C	CA385672633	LEMD3	c.329T>C (p.Ile110Thr) n.343T>C
12	g.65169925T>G	CA385672636	LEMD3	c.329T>G (p.Ile110Ser) n.343T>G
12	g.65169927_65169928dup	CA2695217019	LEMD3	c.331_332dup (p.Ala112ArgfsTer?) n.345_346dup
12	g.65169926C>A	CA480742926	LEMD3	c.330C>A (p.Ile110=) n.344C>A
12	g.65169926C=	CA2042463323	LEMD3	c.330C= (p.Ile110=) n.344C=
12	g.65169926C>G	CA385672638	LEMD3	c.330C>G (p.Ile110Met) n.344C>G	dbSNP gnomAD v4
12	g.65169926C>T	CA238907677	LEMD3	c.330C>T (p.Ile110=) n.344C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.65169927T>A	CA385672643	LEMD3	c.331T>A (p.Ser111Thr) n.345T>A	dbSNP gnomAD v4
12	g.65169927T>C	CA385672646	LEMD3	c.331T>C (p.Ser111Pro) n.345T>C
12	g.65169927T>G	CA385672648	LEMD3	c.331T>G (p.Ser111Ala) n.345T>G
12	g.65169927T=	CA2042463325	LEMD3	c.331T= (p.Ser111=) n.345T=
12	g.65169928del	CA2619668195	LEMD3	c.332del (p.Ser111TrpfsTer?) n.346del	gnomAD v4
12	g.65169928C>A	CA385672649	LEMD3	c.332C>A (p.Ser111Ter) n.346C>A	gnomAD v4
12	g.65169928C>G	CA385672651	LEMD3	c.332C>G (p.Ser111Trp) n.346C>G	gnomAD v4
12	g.65169928C>T	CA385672653	LEMD3	c.332C>T (p.Ser111Leu) n.346C>T	gnomAD v4
12	g.65169929G>A	CA480742936	LEMD3	c.333G>A (p.Ser111=) n.347G>A
12	g.65169929G>C	CA480742934	LEMD3	c.333G>C (p.Ser111=) n.347G>C
12	g.65169929G>T	CA480742935	LEMD3	c.333G>T (p.Ser111=) n.347G>T
12	g.65169930G>A	CA385672656	LEMD3	c.334G>A (p.Ala112Thr) n.348G>A
12	g.65169930G>C	CA385672660	LEMD3	c.334G>C (p.Ala112Pro) n.348G>C
12	g.65169930G>T	CA385672658	LEMD3	c.334G>T (p.Ala112Ser) n.348G>T
12	g.65169931C>A	CA385672663	LEMD3	c.335C>A (p.Ala112Asp) n.349C>A
12	g.65169931C=	CA2042463329	LEMD3	c.335C= (p.Ala112=) n.349C=
12	g.65169931C>G	CA385672667	LEMD3	c.335C>G (p.Ala112Gly) n.349C>G
12	g.65169931C>T	CA385672665	LEMD3	c.335C>T (p.Ala112Val) n.349C>T	ClinVar dbSNP gnomAD v4
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

Number of alleles fetched