Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.65169876del | CA691002330 | LEMD3 | c.280del (p.Val94SerfsTer?) n.294del | dbSNP |
12 | g.65169876G>A | CA385672416 | LEMD3 | c.280G>A (p.Val94Ile) n.294G>A | dbSNP gnomAD v4 |
12 | g.65169876G>C | CA385672418 | LEMD3 | c.280G>C (p.Val94Leu) n.294G>C | |
12 | g.65169876G= | CA2042463218 | LEMD3 | c.280G= (p.Val94=) n.294G= | |
12 | g.65169876G>T | CA385672421 | LEMD3 | c.280G>T (p.Val94Phe) n.294G>T | |
12 | g.65169877T>A | CA385672426 | LEMD3 | c.281T>A (p.Val94Asp) n.295T>A | |
12 | g.65169877T>C | CA385672425 | LEMD3 | c.281T>C (p.Val94Ala) n.295T>C | |
12 | g.65169877T>G | CA385672424 | LEMD3 | c.281T>G (p.Val94Gly) n.295T>G | |
12 | g.65169878C>A | CA480743578 | LEMD3 | c.282C>A (p.Val94=) n.296C>A | |
12 | g.65169878C= | CA2042463223 | LEMD3 | c.282C= (p.Val94=) n.296C= | |
12 | g.65169878C>G | CA10606440 | LEMD3 | c.282C>G (p.Val94=) n.296C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65169878C>T | CA480743579 | LEMD3 | c.282C>T (p.Val94=) n.296C>T | |
12 | g.65169879T>A | CA385672429 | LEMD3 | c.283T>A (p.Ser95Thr) n.297T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65169879T>C | CA385672431 | LEMD3 | c.283T>C (p.Ser95Pro) n.297T>C | |
12 | g.65169879T>G | CA385672434 | LEMD3 | c.283T>G (p.Ser95Ala) n.297T>G | gnomAD v4 |
12 | g.65169879T= | CA2042463228 | LEMD3 | c.283T= (p.Ser95=) n.297T= | |
12 | g.65169880C>A | CA385672436 | LEMD3 | c.284C>A (p.Ser95Ter) n.298C>A | gnomAD v4 |
12 | g.65169880C>G | CA385672438 | LEMD3 | c.284C>G (p.Ser95Trp) n.298C>G | |
12 | g.65169880C>T | CA385672441 | LEMD3 | c.284C>T (p.Ser95Leu) n.298C>T | gnomAD v4 |
12 | g.65169881G>A | CA238907670 | LEMD3 | c.285G>A (p.Ser95=) n.299G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65169881G>C | CA480743582 | LEMD3 | c.285G>C (p.Ser95=) n.299G>C | gnomAD v4 |
12 | g.65169881G= | CA2042463231 | LEMD3 | c.285G= (p.Ser95=) n.299G= | |
12 | g.65169881G>T | CA480743583 | LEMD3 | c.285G>T (p.Ser95=) n.299G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65169882G>A | CA385672444 | LEMD3 | c.286G>A (p.Gly96Ser) n.300G>A | gnomAD v4 |
12 | g.65169882G>C | CA385672445 | LEMD3 | c.286G>C (p.Gly96Arg) n.300G>C | |
12 | g.65169882G>T | CA385672447 | LEMD3 | c.286G>T (p.Gly96Cys) n.300G>T | |
12 | g.65169883G>A | CA385672450 | LEMD3 | c.287G>A (p.Gly96Asp) n.301G>A | |
12 | g.65169883G>C | CA385672451 | LEMD3 | c.287G>C (p.Gly96Ala) n.301G>C | |
12 | g.65169883G>T | CA385672453 | LEMD3 | c.287G>T (p.Gly96Val) n.301G>T | |
12 | g.65169884C>A | CA480743587 | LEMD3 | c.288C>A (p.Gly96=) n.302C>A | gnomAD v4 |
12 | g.65169884C= | CA2042463234 | LEMD3 | c.288C= (p.Gly96=) n.302C= | |
12 | g.65169884C>G | CA480743589 | LEMD3 | c.288C>G (p.Gly96=) n.302C>G | |
12 | g.65169884C>T | CA480743590 | LEMD3 | c.288C>T (p.Gly96=) n.302C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65169885G>A | CA385672459 | LEMD3 | c.289G>A (p.Asp97Asn) n.303G>A | gnomAD v4 |
12 | g.65169885G>C | CA385672461 | LEMD3 | c.289G>C (p.Asp97His) n.303G>C | |
12 | g.65169885G>T | CA385672457 | LEMD3 | c.289G>T (p.Asp97Tyr) n.303G>T | gnomAD v4 |
12 | g.65169886A= | CA2042463238 | LEMD3 | c.290A= (p.Asp97=) n.304A= | |
12 | g.65169886A>C | CA385672464 | LEMD3 | c.290A>C (p.Asp97Ala) n.304A>C | |
12 | g.65169886A>G | CA385672467 | LEMD3 | c.290A>G (p.Asp97Gly) n.304A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65169886A>T | CA385672469 | LEMD3 | c.290A>T (p.Asp97Val) n.304A>T | |
12 | g.65169887C>A | CA385672472 | LEMD3 | c.291C>A (p.Asp97Glu) n.305C>A | |
12 | g.65169887C= | CA2042463243 | LEMD3 | c.291C= (p.Asp97=) n.305C= | |
12 | g.65169887C>G | CA385672474 | LEMD3 | c.291C>G (p.Asp97Glu) n.305C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65169887C>T | CA238907671 | LEMD3 | c.291C>T (p.Asp97=) n.305C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65169888C>A | CA385672481 | LEMD3 | c.292C>A (p.Leu98Ile) n.306C>A | |
12 | g.65169888C= | CA2042463248 | LEMD3 | c.292C= (p.Leu98=) n.306C= | |
12 | g.65169888C>G | CA238907672 | LEMD3 | c.292C>G (p.Leu98Val) n.306C>G | dbSNP |
12 | g.65169888C>T | CA10604853 | LEMD3 | c.292C>T (p.Leu98Phe) n.306C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65169889T>A | CA385672483 | LEMD3 | c.293T>A (p.Leu98His) n.307T>A | gnomAD v4 |
12 | g.65169889T>C | CA385672486 | LEMD3 | c.293T>C (p.Leu98Pro) n.307T>C | gnomAD v4 |
12 | g.65169889T>G | CA385672489 | LEMD3 | c.293T>G (p.Leu98Arg) n.307T>G | dbSNP |
12 | g.65169889T= | CA2042463255 | LEMD3 | c.293T= (p.Leu98=) n.307T= | |
12 | g.65169890C>A | CA480743598 | LEMD3 | c.294C>A (p.Leu98=) n.308C>A | |
12 | g.65169890C= | CA2042463258 | LEMD3 | c.294C= (p.Leu98=) n.308C= | |
12 | g.65169890C>G | CA480743599 | LEMD3 | c.294C>G (p.Leu98=) n.308C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65169890C>T | CA480743600 | LEMD3 | c.294C>T (p.Leu98=) n.308C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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 |