Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.65170091C>A | CA480743527 | LEMD3 | c.495C>A (p.Leu165=) n.509C>A | |
12 | g.65170091C= | CA2042463621 | LEMD3 | c.495C= (p.Leu165=) n.509C= | |
12 | g.65170091C>G | CA480743529 | LEMD3 | c.495C>G (p.Leu165=) n.509C>G | |
12 | g.65170091C>T | CA480743528 | LEMD3 | c.495C>T (p.Leu165=) n.509C>T | ClinVar dbSNP gnomAD v4 |
12 | g.65170092C>A | CA385673341 | LEMD3 | c.496C>A (p.Gln166Lys) n.510C>A | gnomAD v4 |
12 | g.65170092C>G | CA385673342 | LEMD3 | c.496C>G (p.Gln166Glu) n.510C>G | |
12 | g.65170092C>T | CA385673343 | LEMD3 | c.496C>T (p.Gln166Ter) n.510C>T | gnomAD v4 |
12 | g.65170093A= | CA2042463625 | LEMD3 | c.497A= (p.Gln166=) n.511A= | |
12 | g.65170093A>C | CA385673344 | LEMD3 | c.497A>C (p.Gln166Pro) n.511A>C | dbSNP gnomAD v4 |
12 | g.65170093A>G | CA385673345 | LEMD3 | c.497A>G (p.Gln166Arg) n.511A>G | gnomAD v4 |
12 | g.65170093A>T | CA385673346 | LEMD3 | c.497A>T (p.Gln166Leu) n.511A>T | |
12 | g.65170094del | CA2619668215 | LEMD3 | c.498del (p.Gln166HisfsTer17) n.512del | gnomAD v4 |
12 | g.65170094G>A | CA480743536 | LEMD3 | c.498G>A (p.Gln166=) n.512G>A | |
12 | g.65170094G>C | CA385673347 | LEMD3 | c.498G>C (p.Gln166His) n.512G>C | |
12 | g.65170094G>T | CA385673348 | LEMD3 | c.498G>T (p.Gln166His) n.512G>T | gnomAD v4 |
12 | g.65170095T>A | CA385673349 | LEMD3 | c.499T>A (p.Tyr167Asn) n.513T>A | |
12 | g.65170095T>C | CA385673350 | LEMD3 | c.499T>C (p.Tyr167His) n.513T>C | dbSNP gnomAD v4 |
12 | g.65170095T>G | CA385673351 | LEMD3 | c.499T>G (p.Tyr167Asp) n.513T>G | |
12 | g.65170095T= | CA2042463627 | LEMD3 | c.499T= (p.Tyr167=) n.513T= | |
12 | g.65170096A>C | CA385673352 | LEMD3 | c.500A>C (p.Tyr167Ser) n.514A>C | |
12 | g.65170096A>G | CA385673353 | LEMD3 | c.500A>G (p.Tyr167Cys) n.514A>G | |
12 | g.65170096A>T | CA385673354 | LEMD3 | c.500A>T (p.Tyr167Phe) n.514A>T | |
12 | g.65170097C>A | CA385673355 | LEMD3 | c.501C>A (p.Tyr167Ter) n.515C>A | gnomAD v4 |
12 | g.65170097C= | CA2042463632 | LEMD3 | c.501C= (p.Tyr167=) n.515C= | |
12 | g.65170097C>G | CA385673356 | LEMD3 | c.501C>G (p.Tyr167Ter) n.515C>G | |
12 | g.65170097C>T | CA238907690 | LEMD3 | c.501C>T (p.Tyr167=) n.515C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.65170098C>A | CA385673357 | LEMD3 | c.502C>A (p.Arg168Ser) n.516C>A | gnomAD v4 |
12 | g.65170098C>G | CA385673358 | LEMD3 | c.502C>G (p.Arg168Gly) n.516C>G | |
12 | g.65170098C>T | CA385673359 | LEMD3 | c.502C>T (p.Arg168Cys) n.516C>T | |
12 | g.65170099G>A | CA385673360 | LEMD3 | c.503G>A (p.Arg168His) n.517G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65170099G>C | CA385673361 | LEMD3 | c.503G>C (p.Arg168Pro) n.517G>C | |
12 | g.65170099G= | CA2042463637 | LEMD3 | c.503G= (p.Arg168=) n.517G= | |
12 | g.65170099G>T | CA385673362 | LEMD3 | c.503G>T (p.Arg168Leu) n.517G>T | gnomAD v4 |
12 | g.65170100C>A | CA480743547 | LEMD3 | c.504C>A (p.Arg168=) n.518C>A | gnomAD v4 |
12 | g.65170100C= | CA2042463641 | LEMD3 | c.504C= (p.Arg168=) n.518C= | |
12 | g.65170100C>G | CA480743549 | LEMD3 | c.504C>G (p.Arg168=) n.518C>G | dbSNP gnomAD v4 |
12 | g.65170100C>T | CA480743550 | LEMD3 | c.504C>T (p.Arg168=) n.518C>T | gnomAD v4 |
12 | g.65170101G>A | CA385673363 | LEMD3 | c.505G>A (p.Gly169Arg) n.519G>A | gnomAD v4 |
12 | g.65170101G>C | CA385673364 | LEMD3 | c.505G>C (p.Gly169Arg) n.519G>C | |
12 | g.65170101G>T | CA385673365 | LEMD3 | c.505G>T (p.Gly169Trp) n.519G>T | gnomAD v4 COSMIC |
12 | g.65170102G>A | CA385673366 | LEMD3 | c.506G>A (p.Gly169Glu) n.520G>A | |
12 | g.65170102G>C | CA385673367 | LEMD3 | c.506G>C (p.Gly169Ala) n.520G>C | |
12 | g.65170102G>T | CA385673368 | LEMD3 | c.506G>T (p.Gly169Val) n.520G>T | gnomAD v4 |
12 | g.65170103G>A | CA480743557 | LEMD3 | c.507G>A (p.Gly169=) n.521G>A | gnomAD v4 COSMIC |
12 | g.65170103G>C | CA480743558 | LEMD3 | c.507G>C (p.Gly169=) n.521G>C | |
12 | g.65170103G>T | CA480743559 | LEMD3 | c.507G>T (p.Gly169=) n.521G>T | gnomAD v4 |
12 | g.65170104C>A | CA385673369 | LEMD3 | c.508C>A (p.Leu170Ile) n.522C>A | gnomAD v4 |
12 | g.65170104C= | CA2042463644 | LEMD3 | c.508C= (p.Leu170=) n.522C= | |
12 | g.65170104C>G | CA385673371 | LEMD3 | c.508C>G (p.Leu170Val) n.522C>G | |
12 | g.65170104C>T | CA385673370 | LEMD3 | c.508C>T (p.Leu170Phe) n.522C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170105T>A | CA385673372 | LEMD3 | c.509T>A (p.Leu170His) n.523T>A | gnomAD v4 COSMIC |
12 | g.65170105T>C | CA385673374 | LEMD3 | c.509T>C (p.Leu170Pro) n.523T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170105T>G | CA385673373 | LEMD3 | c.509T>G (p.Leu170Arg) n.523T>G | |
12 | g.65170105T= | CA2042463649 | LEMD3 | c.509T= (p.Leu170=) n.523T= | |
12 | g.65170106C>A | CA480743566 | LEMD3 | c.510C>A (p.Leu170=) n.524C>A | |
12 | g.65170106C= | CA2042463651 | LEMD3 | c.510C= (p.Leu170=) n.524C= | |
12 | g.65170106C>G | CA480743571 | LEMD3 | c.510C>G (p.Leu170=) n.524C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65170106C>T | CA480743569 | LEMD3 | c.510C>T (p.Leu170=) n.524C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170107A>C | CA385673375 | LEMD3 | c.511A>C (p.Lys171Gln) n.525A>C | |
12 | g.65170107A>G | CA385673376 | LEMD3 | c.511A>G (p.Lys171Glu) n.525A>G | gnomAD v4 |
12 | g.65170107A>T | CA385673377 | LEMD3 | c.511A>T (p.Lys171Ter) n.525A>T | |
12 | g.65170108A= | CA2042463654 | LEMD3 | c.512A= (p.Lys171=) n.526A= | |
12 | g.65170108A>C | CA385673378 | LEMD3 | c.512A>C (p.Lys171Thr) n.526A>C | |
12 | g.65170108A>G | CA385673379 | LEMD3 | c.512A>G (p.Lys171Arg) n.526A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170108A>T | CA385673380 | LEMD3 | c.512A>T (p.Lys171Ile) n.526A>T | |
12 | g.65170109A>C | CA385673381 | LEMD3 | c.513A>C (p.Lys171Asn) n.527A>C | |
12 | g.65170109A>G | CA480743577 | LEMD3 | c.513A>G (p.Lys171=) n.527A>G | |
12 | g.65170109A>T | CA385673382 | LEMD3 | c.513A>T (p.Lys171Asn) n.527A>T | |
12 | g.65170110G>A | CA385673383 | LEMD3 | c.514G>A (p.Ala172Thr) n.528G>A | |
12 | g.65170110G>C | CA385673384 | LEMD3 | c.514G>C (p.Ala172Pro) n.528G>C | |
12 | g.65170110G>T | CA385673385 | LEMD3 | c.514G>T (p.Ala172Ser) n.528G>T | gnomAD v4 |
12 | g.65170111C>A | CA6670718 | LEMD3 | c.515C>A (p.Ala172Glu) n.529C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65170111C= | CA2042463657 | LEMD3 | c.515C= (p.Ala172=) n.529C= | |
12 | g.65170111C>G | CA385673386 | LEMD3 | c.515C>G (p.Ala172Gly) n.529C>G | |
12 | g.65170111C>T | CA6670719 | LEMD3 | c.515C>T (p.Ala172Val) n.529C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170111_65170120del | CA2619668216 | LEMD3 | c.515_524del (p.Ala172GlyfsTer8) n.529_538del | gnomAD v4 |
12 | g.65170112G>A | CA480743584 | LEMD3 | c.516G>A (p.Ala172=) n.530G>A | gnomAD v4 |
12 | g.65170112G>C | CA480743585 | LEMD3 | c.516G>C (p.Ala172=) n.530G>C | |
12 | g.65170112G>T | CA480743586 | LEMD3 | c.516G>T (p.Ala172=) n.530G>T | |
12 | g.65170113C>A | CA385673387 | LEMD3 | c.517C>A (p.Pro173Thr) n.531C>A | gnomAD v4 |
12 | g.65170113C>G | CA385673388 | LEMD3 | c.517C>G (p.Pro173Ala) n.531C>G | |
12 | g.65170113C>T | CA385673389 | LEMD3 | c.517C>T (p.Pro173Ser) n.531C>T | gnomAD v4 |
12 | g.65170114C>A | CA385673390 | LEMD3 | c.518C>A (p.Pro173Gln) n.532C>A | |
12 | g.65170114C= | CA2042463662 | LEMD3 | c.518C= (p.Pro173=) n.532C= | |
12 | g.65170114C>G | CA385673391 | LEMD3 | c.518C>G (p.Pro173Arg) n.532C>G | |
12 | g.65170114C>T | CA385673392 | LEMD3 | c.518C>T (p.Pro173Leu) n.532C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170115G>A | CA480743592 | LEMD3 | c.519G>A (p.Pro173=) n.533G>A | gnomAD v4 |
12 | g.65170115G>C | CA480743596 | LEMD3 | c.519G>C (p.Pro173=) n.533G>C | |
12 | g.65170115G>T | CA480743594 | LEMD3 | c.519G>T (p.Pro173=) n.533G>T | gnomAD v4 |
12 | g.65170116C>A | CA385673393 | LEMD3 | c.520C>A (p.Pro174Thr) n.534C>A | gnomAD v4 |
12 | g.65170116C= | CA2042463664 | LEMD3 | c.520C= (p.Pro174=) n.534C= | |
12 | g.65170116C>G | CA385673394 | LEMD3 | c.520C>G (p.Pro174Ala) n.534C>G | |
12 | g.65170116C>T | CA385673395 | LEMD3 | c.520C>T (p.Pro174Ser) n.534C>T | dbSNP |
12 | g.65170117C>A | CA385673396 | LEMD3 | c.521C>A (p.Pro174Gln) n.535C>A | gnomAD v4 |
12 | g.65170117C= | CA2042463668 | LEMD3 | c.521C= (p.Pro174=) n.535C= | |
12 | g.65170117C>G | CA385673397 | LEMD3 | c.521C>G (p.Pro174Arg) n.535C>G | |
12 | g.65170117C>T | CA6670720 | LEMD3 | c.521C>T (p.Pro174Leu) n.535C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170118G>A | CA480743601 | LEMD3 | c.522G>A (p.Pro174=) n.536G>A | gnomAD v4 |
12 | g.65170118G>C | CA480743603 | LEMD3 | c.522G>C (p.Pro174=) n.536G>C | |
12 | g.65170118G>T | CA480743606 | LEMD3 | c.522G>T (p.Pro174=) n.536G>T | gnomAD v4 |
12 | g.65170119G>A | CA385673400 | LEMD3 | c.523G>A (p.Ala175Thr) n.537G>A | gnomAD v4 |
12 | g.65170119G>C | CA385673399 | LEMD3 | c.523G>C (p.Ala175Pro) n.537G>C | |
12 | g.65170119G>T | CA385673398 | LEMD3 | c.523G>T (p.Ala175Ser) n.537G>T | gnomAD v4 |
12 | g.65170122_65170137dup | CA2796330078 | LEMD3 | c.526_541dup (p.Glu181AlafsTer9) n.540_555dup | |
12 | g.65170120C>A | CA238907691 | LEMD3 | c.524C>A (p.Ala175Glu) n.538C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170120C= | CA2042463671 | LEMD3 | c.524C= (p.Ala175=) n.538C= | |
12 | g.65170120C>G | CA385673401 | LEMD3 | c.524C>G (p.Ala175Gly) n.538C>G | |
12 | g.65170120C>T | CA385673402 | LEMD3 | c.524C>T (p.Ala175Val) n.538C>T | gnomAD v4 |
12 | g.65170121G>A | CA480743613 | LEMD3 | c.525G>A (p.Ala175=) n.539G>A | gnomAD v4 |
12 | g.65170121G>C | CA480743615 | LEMD3 | c.525G>C (p.Ala175=) n.539G>C | |
12 | g.65170121G>T | CA480743617 | LEMD3 | c.525G>T (p.Ala175=) n.539G>T | ClinVar gnomAD v4 |
12 | g.65170122C>A | CA385673403 | LEMD3 | c.526C>A (p.Pro176Thr) n.540C>A | gnomAD v4 |
12 | g.65170122C>G | CA385673404 | LEMD3 | c.526C>G (p.Pro176Ala) n.540C>G | |
12 | g.65170122C>T | CA385673405 | LEMD3 | c.526C>T (p.Pro176Ser) n.540C>T | gnomAD v4 |
12 | g.65170125del | CA2619668217 | LEMD3 | c.529del (p.Leu177TrpfsTer6) n.543del | gnomAD v4 |
12 | g.65170123C>A | CA385673406 | LEMD3 | c.527C>A (p.Pro176His) n.541C>A | |
12 | g.65170123C= | CA2042463674 | LEMD3 | c.527C= (p.Pro176=) n.541C= | |
12 | g.65170123C>G | CA385673407 | LEMD3 | c.527C>G (p.Pro176Arg) n.541C>G | |
12 | g.65170123C>T | CA385673408 | LEMD3 | c.527C>T (p.Pro176Leu) n.541C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170124C>A | CA480743630 | LEMD3 | c.528C>A (p.Pro176=) n.542C>A | gnomAD v4 |
12 | g.65170124C= | CA2042463676 | LEMD3 | c.528C= (p.Pro176=) n.542C= | |
12 | g.65170124C>G | CA480743626 | LEMD3 | c.528C>G (p.Pro176=) n.542C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65170124C>T | CA480743629 | LEMD3 | c.528C>T (p.Pro176=) n.542C>T | gnomAD v4 |
12 | g.65170125C>A | CA385673409 | LEMD3 | c.529C>A (p.Leu177Met) n.543C>A | gnomAD v4 |
12 | g.65170125C= | CA2042463679 | LEMD3 | c.529C= (p.Leu177=) n.543C= | |
12 | g.65170125C>G | CA385673410 | LEMD3 | c.529C>G (p.Leu177Val) n.543C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170125C>T | CA480743634 | LEMD3 | c.529C>T (p.Leu177=) n.543C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170126T>A | CA385673411 | LEMD3 | c.530T>A (p.Leu177Gln) n.544T>A | |
12 | g.65170126T>C | CA385673412 | LEMD3 | c.530T>C (p.Leu177Pro) n.544T>C | gnomAD v4 |
12 | g.65170126T>G | CA385673413 | LEMD3 | c.530T>G (p.Leu177Arg) n.544T>G | |
12 | g.65170127G>A | CA480743640 | LEMD3 | c.531G>A (p.Leu177=) n.545G>A | gnomAD v4 |
12 | g.65170127G>C | CA480743641 | LEMD3 | c.531G>C (p.Leu177=) n.545G>C | gnomAD v4 |
12 | g.65170127G>T | CA480743642 | LEMD3 | c.531G>T (p.Leu177=) n.545G>T | gnomAD v4 |
12 | g.65170128G>A | CA385673416 | LEMD3 | c.532G>A (p.Ala178Thr) n.546G>A | gnomAD v4 |
12 | g.65170128G>C | CA385673414 | LEMD3 | c.532G>C (p.Ala178Pro) n.546G>C | |
12 | g.65170128G>T | CA385673415 | LEMD3 | c.532G>T (p.Ala178Ser) n.546G>T | gnomAD v4 |
12 | g.65170129C>A | CA385673417 | LEMD3 | c.533C>A (p.Ala178Asp) n.547C>A | dbSNP gnomAD v4 |
12 | g.65170129C= | CA2042463681 | LEMD3 | c.533C= (p.Ala178=) n.547C= | |
12 | g.65170129C>G | CA385673418 | LEMD3 | c.533C>G (p.Ala178Gly) n.547C>G | |
12 | g.65170129C>T | CA238907692 | LEMD3 | c.533C>T (p.Ala178Val) n.547C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65170130C>A | CA480743652 | LEMD3 | c.534C>A (p.Ala178=) n.548C>A | gnomAD v4 |
12 | g.65170130C>G | CA480743656 | LEMD3 | c.534C>G (p.Ala178=) n.548C>G | |
12 | g.65170130C>T | CA480743654 | LEMD3 | c.534C>T (p.Ala178=) n.548C>T | gnomAD v4 |
12 | g.65170131G>A | CA385673419 | LEMD3 | c.535G>A (p.Ala179Thr) n.549G>A | ClinVar dbSNP gnomAD v4 |
12 | g.65170131G>C | CA385673420 | LEMD3 | c.535G>C (p.Ala179Pro) n.549G>C | |
12 | g.65170131G>T | CA385673421 | LEMD3 | c.535G>T (p.Ala179Ser) n.549G>T | gnomAD v4 |
12 | g.65170132C>A | CA385673422 | LEMD3 | c.536C>A (p.Ala179Asp) n.550C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.65170132C= | CA2042463686 | LEMD3 | c.536C= (p.Ala179=) n.550C= | |
12 | g.65170132C>G | CA385673423 | LEMD3 | c.536C>G (p.Ala179Gly) n.550C>G | |
12 | g.65170132C>T | CA385673424 | LEMD3 | c.536C>T (p.Ala179Val) n.550C>T | gnomAD v4 |
12 | g.65170133C>A | CA480743661 | LEMD3 | c.537C>A (p.Ala179=) n.551C>A | gnomAD v4 |
12 | g.65170133C= | CA2042463691 | LEMD3 | c.537C= (p.Ala179=) n.551C= | |
12 | g.65170133C>G | CA480743662 | LEMD3 | c.537C>G (p.Ala179=) n.551C>G | |
12 | g.65170133C>T | CA6670721 | LEMD3 | c.537C>T (p.Ala179=) n.551C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170134A>C | CA385673425 | LEMD3 | c.538A>C (p.Ser180Arg) n.552A>C | |
12 | g.65170134A>G | CA385673426 | LEMD3 | c.538A>G (p.Ser180Gly) n.552A>G | gnomAD v4 |
12 | g.65170134A>T | CA385673427 | LEMD3 | c.538A>T (p.Ser180Cys) n.552A>T | |
12 | g.65170135G>A | CA385673430 | LEMD3 | c.539G>A (p.Ser180Asn) n.553G>A | gnomAD v4 |
12 | g.65170135G>C | CA385673429 | LEMD3 | c.539G>C (p.Ser180Thr) n.553G>C | |
12 | g.65170135G>T | CA385673428 | LEMD3 | c.539G>T (p.Ser180Ile) n.553G>T | gnomAD v4 |
12 | g.65170136C>A | CA385673431 | LEMD3 | c.540C>A (p.Ser180Arg) n.554C>A | gnomAD v4 |
12 | g.65170136C= | CA2042463694 | LEMD3 | c.540C= (p.Ser180=) n.554C= | |
12 | g.65170136C>G | CA385673432 | LEMD3 | c.540C>G (p.Ser180Arg) n.554C>G | |
12 | g.65170136C>T | CA480743680 | LEMD3 | c.540C>T (p.Ser180=) n.554C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170137G>A | CA385673433 | LEMD3 | c.541G>A (p.Glu181Lys) n.555G>A | |
12 | g.65170137G>C | CA385673434 | LEMD3 | c.541G>C (p.Glu181Gln) n.555G>C | |
12 | g.65170137G>T | CA385673435 | LEMD3 | c.541G>T (p.Glu181Ter) n.555G>T | gnomAD v4 |
12 | g.65170138A>C | CA385673436 | LEMD3 | c.542A>C (p.Glu181Ala) n.556A>C | |
12 | g.65170138A>G | CA385673437 | LEMD3 | c.542A>G (p.Glu181Gly) n.556A>G | gnomAD v4 |
12 | g.65170138A>T | CA385673438 | LEMD3 | c.542A>T (p.Glu181Val) n.556A>T | gnomAD v4 |
12 | g.65170139G>A | CA480743685 | LEMD3 | c.543G>A (p.Glu181=) n.557G>A | gnomAD v4 |
12 | g.65170139G>C | CA385673439 | LEMD3 | c.543G>C (p.Glu181Asp) n.557G>C | ClinVar dbSNP gnomAD v4 |
12 | g.65170139G= | CA2042463698 | LEMD3 | c.543G= (p.Glu181=) n.557G= | |
12 | g.65170139G>T | CA238907693 | LEMD3 | c.543G>T (p.Glu181Asp) n.557G>T | dbSNP gnomAD v4 |
12 | g.65170140G>A | CA385673440 | LEMD3 | c.544G>A (p.Val182Met) n.558G>A | gnomAD v4 |
12 | g.65170140G>C | CA385673441 | LEMD3 | c.544G>C (p.Val182Leu) n.558G>C | |
12 | g.65170140G= | CA2042463702 | LEMD3 | c.544G= (p.Val182=) n.558G= | |
12 | g.65170140G>T | CA6670722 | LEMD3 | c.544G>T (p.Val182Leu) n.558G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170141T>A | CA385673442 | LEMD3 | c.545T>A (p.Val182Glu) n.559T>A | gnomAD v4 |
12 | g.65170141T>C | CA385673443 | LEMD3 | c.545T>C (p.Val182Ala) n.559T>C | dbSNP gnomAD v4 |
12 | g.65170141T>G | CA385673444 | LEMD3 | c.545T>G (p.Val182Gly) n.559T>G | dbSNP |
12 | g.65170141T= | CA2042463710 | LEMD3 | c.545T= (p.Val182=) n.559T= | |
12 | g.65170142G>A | CA6670723 | LEMD3 | c.546G>A (p.Val182=) n.560G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170142G>C | CA480743694 | LEMD3 | c.546G>C (p.Val182=) n.560G>C | |
12 | g.65170142G= | CA2042463715 | LEMD3 | c.546G= (p.Val182=) n.560G= | |
12 | g.65170142G>T | CA480743695 | LEMD3 | c.546G>T (p.Val182=) n.560G>T | gnomAD v4 |
12 | g.65170143A>C | CA385673445 | LEMD3 | c.547A>C (p.Thr183Pro) n.561A>C | |
12 | g.65170143A>G | CA385673446 | LEMD3 | c.547A>G (p.Thr183Ala) n.561A>G | |
12 | g.65170143A>T | CA385673447 | LEMD3 | c.547A>T (p.Thr183Ser) n.561A>T | |
12 | g.65170144C>A | CA385673448 | LEMD3 | c.548C>A (p.Thr183Asn) n.562C>A | |
12 | g.65170144C= | CA2042463720 | LEMD3 | c.548C= (p.Thr183=) n.562C= | |
12 | g.65170144C>G | CA385673449 | LEMD3 | c.548C>G (p.Thr183Ser) n.562C>G | ClinVar dbSNP gnomAD v4 |
12 | g.65170144C>T | CA385673450 | LEMD3 | c.548C>T (p.Thr183Ile) n.562C>T | gnomAD v4 |
12 | g.65170145T>A | CA480743711 | LEMD3 | c.549T>A (p.Thr183=) n.563T>A | gnomAD v4 |
12 | g.65170145T>C | CA480743713 | LEMD3 | c.549T>C (p.Thr183=) n.563T>C | gnomAD v4 |
12 | g.65170145T>G | CA480743715 | LEMD3 | c.549T>G (p.Thr183=) n.563T>G | |
12 | g.65170145dup | CA6670724 | LEMD3 | c.549dup (p.Asn184Ter) n.563dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65170146A>C | CA385673451 | LEMD3 | c.550A>C (p.Asn184His) n.564A>C | |
12 | g.65170146A>G | CA385673452 | LEMD3 | c.550A>G (p.Asn184Asp) n.564A>G | |
12 | g.65170146A>T | CA385673453 | LEMD3 | c.550A>T (p.Asn184Tyr) n.564A>T | gnomAD v4 |
12 | g.65170147A>C | CA385673454 | LEMD3 | c.551A>C (p.Asn184Thr) n.565A>C | |
12 | g.65170147A>G | CA385673455 | LEMD3 | c.551A>G (p.Asn184Ser) n.565A>G | |
12 | g.65170147A>T | CA385673456 | LEMD3 | c.551A>T (p.Asn184Ile) n.565A>T | |
12 | g.65170148C>A | CA385673458 | LEMD3 | c.552C>A (p.Asn184Lys) n.566C>A | gnomAD v4 |
12 | g.65170148C= | CA2042463725 | LEMD3 | c.552C= (p.Asn184=) n.566C= | |
12 | g.65170148C>G | CA385673457 | LEMD3 | c.552C>G (p.Asn184Lys) n.566C>G | |
12 | g.65170148C>T | CA238907694 | LEMD3 | c.552C>T (p.Asn184=) n.566C>T | dbSNP gnomAD v4 |
12 | g.65170149A>C | CA385673459 | LEMD3 | c.553A>C (p.Ser185Arg) n.567A>C | |
12 | g.65170149A>G | CA385673461 | LEMD3 | c.553A>G (p.Ser185Gly) n.567A>G | gnomAD v4 |
12 | g.65170149A>T | CA385673460 | LEMD3 | c.553A>T (p.Ser185Cys) n.567A>T | |
12 | g.65170150G>A | CA6670725 | LEMD3 | c.554G>A (p.Ser185Asn) n.568G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65170150G>C | CA385673462 | LEMD3 | c.554G>C (p.Ser185Thr) n.568G>C | |
12 | g.65170150G= | CA2042463728 | LEMD3 | c.554G= (p.Ser185=) n.568G= | |
12 | g.65170150G>T | CA385673463 | LEMD3 | c.554G>T (p.Ser185Ile) n.568G>T | gnomAD v4 |
12 | g.65170151C>A | CA385673464 | LEMD3 | c.555C>A (p.Ser185Arg) n.569C>A | gnomAD v4 |
12 | g.65170151C= | CA2042463730 | LEMD3 | c.555C= (p.Ser185=) n.569C= | |
12 | g.65170151C>G | CA385673465 | LEMD3 | c.555C>G (p.Ser185Arg) n.569C>G | |
12 | g.65170151C>T | CA238907695 | LEMD3 | c.555C>T (p.Ser185=) n.569C>T | dbSNP gnomAD v4 |
12 | g.65170152A= | CA2042463732 | LEMD3 | c.556A= (p.Asn186=) n.570A= | |
12 | g.65170152A>C | CA385673466 | LEMD3 | c.556A>C (p.Asn186His) n.570A>C | |
12 | g.65170152A>G | CA385673467 | LEMD3 | c.556A>G (p.Asn186Asp) n.570A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170152A>T | CA385673468 | LEMD3 | c.556A>T (p.Asn186Tyr) n.570A>T | |
12 | g.65170153A= | CA2042463736 | LEMD3 | c.557A= (p.Asn186=) n.571A= | |
12 | g.65170153A>C | CA385673469 | LEMD3 | c.557A>C (p.Asn186Thr) n.571A>C | |
12 | g.65170153A>G | CA6670726 | LEMD3 | c.557A>G (p.Asn186Ser) n.571A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65170153A>T | CA385673470 | LEMD3 | c.557A>T (p.Asn186Ile) n.571A>T | gnomAD v4 |
12 | g.65170154C>A | CA385673471 | LEMD3 | c.558C>A (p.Asn186Lys) n.572C>A | gnomAD v4 |
12 | g.65170154C>G | CA385673472 | LEMD3 | c.558C>G (p.Asn186Lys) n.572C>G | |
12 | g.65170154C>T | CA480743757 | LEMD3 | c.558C>T (p.Asn186=) n.572C>T | gnomAD v4 |
12 | g.65170155T>A | CA385673473 | LEMD3 | c.559T>A (p.Ser187Thr) n.573T>A | ClinVar gnomAD v4 |
12 | g.65170155T>C | CA385673474 | LEMD3 | c.559T>C (p.Ser187Pro) n.573T>C | gnomAD v4 |
12 | g.65170155T>G | CA385673475 | LEMD3 | c.559T>G (p.Ser187Ala) n.573T>G | |
12 | g.65170156C>A | CA385673476 | LEMD3 | c.560C>A (p.Ser187Tyr) n.574C>A | gnomAD v4 |
12 | g.65170156C>G | CA385673477 | LEMD3 | c.560C>G (p.Ser187Cys) n.574C>G | gnomAD v4 |
12 | g.65170156C>T | CA385673478 | LEMD3 | c.560C>T (p.Ser187Phe) n.574C>T | gnomAD v4 |
12 | g.65170157T>A | CA480743766 | LEMD3 | c.561T>A (p.Ser187=) n.575T>A | gnomAD v4 |
12 | g.65170157T>C | CA238907696 | LEMD3 | c.561T>C (p.Ser187=) n.575T>C | dbSNP gnomAD v4 |
12 | g.65170157T>G | CA480743767 | LEMD3 | c.561T>G (p.Ser187=) n.575T>G | |
12 | g.65170157T= | CA2042463741 | LEMD3 | c.561T= (p.Ser187=) n.575T= | |
12 | g.65170158G>A | CA385673479 | LEMD3 | c.562G>A (p.Ala188Thr) n.576G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170158G>C | CA385673480 | LEMD3 | c.562G>C (p.Ala188Pro) n.576G>C | gnomAD v4 |
12 | g.65170158G= | CA2042463746 | LEMD3 | c.562G= (p.Ala188=) n.576G= | |
12 | g.65170158G>T | CA385673481 | LEMD3 | c.562G>T (p.Ala188Ser) n.576G>T | gnomAD v4 |
12 | g.65170159C>A | CA385673482 | LEMD3 | c.563C>A (p.Ala188Glu) n.577C>A | gnomAD v4 |
12 | g.65170159C= | CA2042463749 | LEMD3 | c.563C= (p.Ala188=) n.577C= | |
12 | g.65170159C>G | CA385673483 | LEMD3 | c.563C>G (p.Ala188Gly) n.577C>G | |
12 | g.65170159C>T | CA385673484 | LEMD3 | c.563C>T (p.Ala188Val) n.577C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170160A= | CA2042463752 | LEMD3 | c.564A= (p.Ala188=) n.578A= | |
12 | g.65170160A>C | CA480743094 | LEMD3 | c.564A>C (p.Ala188=) n.578A>C | dbSNP |
12 | g.65170160A>G | CA480743093 | LEMD3 | c.564A>G (p.Ala188=) n.578A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65170160A>T | CA480743092 | LEMD3 | c.564A>T (p.Ala188=) n.578A>T | gnomAD v4 |
12 | g.65170161G>A | CA385673487 | LEMD3 | c.565G>A (p.Glu189Lys) n.579G>A | gnomAD v4 |
12 | g.65170161G>C | CA385673485 | LEMD3 | c.565G>C (p.Glu189Gln) n.579G>C | |
12 | g.65170161G>T | CA385673486 | LEMD3 | c.565G>T (p.Glu189Ter) n.579G>T | gnomAD v4 |
12 | g.65170162A>C | CA385673488 | LEMD3 | c.566A>C (p.Glu189Ala) n.580A>C | |
12 | g.65170162A>G | CA385673490 | LEMD3 | c.566A>G (p.Glu189Gly) n.580A>G | |
12 | g.65170162A>T | CA385673489 | LEMD3 | c.566A>T (p.Glu189Val) n.580A>T | |
12 | g.65170163G>A | CA238907697 | LEMD3 | c.567G>A (p.Glu189=) n.581G>A | dbSNP gnomAD v4 |
12 | g.65170163G>C | CA385673491 | LEMD3 | c.567G>C (p.Glu189Asp) n.581G>C | |
12 | g.65170163G= | CA2042463754 | LEMD3 | c.567G= (p.Glu189=) n.581G= | |
12 | g.65170163G>T | CA385673492 | LEMD3 | c.567G>T (p.Glu189Asp) n.581G>T | gnomAD v4 |
12 | g.65170164C>A | CA480743103 | LEMD3 | c.568C>A (p.Arg190=) n.582C>A | gnomAD v4 |
12 | g.65170164C= | CA2042463756 | LEMD3 | c.568C= (p.Arg190=) n.582C= | |
12 | g.65170164C>G | CA6670727 | LEMD3 | c.568C>G (p.Arg190Gly) n.582C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170164C>T | CA385673493 | LEMD3 | c.568C>T (p.Arg190Ter) n.582C>T | gnomAD v4 |
12 | g.65170165G>A | CA385673494 | LEMD3 | c.569G>A (p.Arg190Gln) n.583G>A | gnomAD v4 |
12 | g.65170165G>C | CA385673495 | LEMD3 | c.569G>C (p.Arg190Pro) n.583G>C | |
12 | g.65170165G>T | CA385673496 | LEMD3 | c.569G>T (p.Arg190Leu) n.583G>T | gnomAD v4 |
12 | g.65170166A= | CA2042463759 | LEMD3 | c.570A= (p.Arg190=) n.584A= | |
12 | g.65170166A>C | CA480743107 | LEMD3 | c.570A>C (p.Arg190=) n.584A>C | |
12 | g.65170166A>G | CA480743109 | LEMD3 | c.570A>G (p.Arg190=) n.584A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65170166A>T | CA480743111 | LEMD3 | c.570A>T (p.Arg190=) n.584A>T | |
12 | g.65170167del | CA2619668218 | LEMD3 | c.571del (p.Arg191GlyfsTer?) n.585del | gnomAD v4 |
12 | g.65170167A>C | CA480743112 | LEMD3 | c.571A>C (p.Arg191=) n.585A>C | |
12 | g.65170167A>G | CA385673497 | LEMD3 | c.571A>G (p.Arg191Gly) n.585A>G | |
12 | g.65170167A>T | CA385673498 | LEMD3 | c.571A>T (p.Arg191Trp) n.585A>T | gnomAD v4 |
12 | g.65170168G>A | CA385673499 | LEMD3 | c.572G>A (p.Arg191Lys) n.586G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170168G>C | CA385673500 | LEMD3 | c.572G>C (p.Arg191Thr) n.586G>C | |
12 | g.65170168G= | CA2042463761 | LEMD3 | c.572G= (p.Arg191=) n.586G= | |
12 | g.65170168G>T | CA385673501 | LEMD3 | c.572G>T (p.Arg191Met) n.586G>T | gnomAD v4 |
12 | g.65170169dup | CA2695217020 | LEMD3 | c.573dup (p.Lys192GlufsTer?) n.587dup | |
12 | g.65170169G>A | CA480743117 | LEMD3 | c.573G>A (p.Arg191=) n.587G>A | |
12 | g.65170169G>C | CA385673503 | LEMD3 | c.573G>C (p.Arg191Ser) n.587G>C | |
12 | g.65170169G>T | CA385673502 | LEMD3 | c.573G>T (p.Arg191Ser) n.587G>T | |
12 | g.65170170A>C | CA385673504 | LEMD3 | c.574A>C (p.Lys192Gln) n.588A>C | |
12 | g.65170170A>G | CA385673505 | LEMD3 | c.574A>G (p.Lys192Glu) n.588A>G | |
12 | g.65170170A>T | CA385673506 | LEMD3 | c.574A>T (p.Lys192Ter) n.588A>T | |
12 | g.65170171A>C | CA385673507 | LEMD3 | c.575A>C (p.Lys192Thr) n.589A>C | |
12 | g.65170171A>G | CA385673508 | LEMD3 | c.575A>G (p.Lys192Arg) n.589A>G | gnomAD v4 |
12 | g.65170171A>T | CA385673509 | LEMD3 | c.575A>T (p.Lys192Met) n.589A>T | gnomAD v4 |
12 | g.65170172G>A | CA480743123 | LEMD3 | c.576G>A (p.Lys192=) n.590G>A | gnomAD v4 |
12 | g.65170172G>C | CA385673511 | LEMD3 | c.576G>C (p.Lys192Asn) n.590G>C | |
12 | g.65170172G>T | CA385673510 | LEMD3 | c.576G>T (p.Lys192Asn) n.590G>T | gnomAD v4 |
12 | g.65170173_65170181del | CA2619668219 | LEMD3 | c.577_585del (p.Pro193_Ser195del) n.591_599del | gnomAD v4 |
12 | g.65170173C>A | CA238907698 | LEMD3 | c.577C>A (p.Pro193Thr) n.591C>A | ClinVar dbSNP gnomAD v4 |
12 | g.65170173C= | CA2042463765 | LEMD3 | c.577C= (p.Pro193=) n.591C= | |
12 | g.65170173C>G | CA385673512 | LEMD3 | c.577C>G (p.Pro193Ala) n.591C>G | |
12 | g.65170173C>T | CA385673513 | LEMD3 | c.577C>T (p.Pro193Ser) n.591C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170176del | CA2619668220 | LEMD3 | c.580del (p.His194ThrfsTer?) n.594del | gnomAD v4 |
12 | g.65170174C>A | CA385673514 | LEMD3 | c.578C>A (p.Pro193His) n.592C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170174C= | CA2042463768 | LEMD3 | c.578C= (p.Pro193=) n.592C= | |
12 | g.65170174C>G | CA385673515 | LEMD3 | c.578C>G (p.Pro193Arg) n.592C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170174C>T | CA385673516 | LEMD3 | c.578C>T (p.Pro193Leu) n.592C>T | gnomAD v4 |
12 | g.65170175C>A | CA480743146 | LEMD3 | c.579C>A (p.Pro193=) n.593C>A | gnomAD v4 |
12 | g.65170175C= | CA2042463770 | LEMD3 | c.579C= (p.Pro193=) n.593C= | |
12 | g.65170175C>G | CA480743147 | LEMD3 | c.579C>G (p.Pro193=) n.593C>G | dbSNP |
12 | g.65170175C>T | CA480743148 | LEMD3 | c.579C>T (p.Pro193=) n.593C>T | gnomAD v4 |
12 | g.65170176C>A | CA385673519 | LEMD3 | c.580C>A (p.His194Asn) n.594C>A | gnomAD v4 |
12 | g.65170176C>G | CA385673517 | LEMD3 | c.580C>G (p.His194Asp) n.594C>G | |
12 | g.65170176C>T | CA385673518 | LEMD3 | c.580C>T (p.His194Tyr) n.594C>T | gnomAD v4 |
12 | g.65170177A= | CA2042463772 | LEMD3 | c.581A= (p.His194=) n.595A= | |
12 | g.65170177A>C | CA385673520 | LEMD3 | c.581A>C (p.His194Pro) n.595A>C | |
12 | g.65170177A>G | CA385673521 | LEMD3 | c.581A>G (p.His194Arg) n.595A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170177A>T | CA385673522 | LEMD3 | c.581A>T (p.His194Leu) n.595A>T | |
12 | g.65170178C>A | CA385673523 | LEMD3 | c.582C>A (p.His194Gln) n.596C>A | gnomAD v4 |
12 | g.65170178C>G | CA385673524 | LEMD3 | c.582C>G (p.His194Gln) n.596C>G | |
12 | g.65170178C>T | CA480743154 | LEMD3 | c.582C>T (p.His194=) n.596C>T | gnomAD v4 |
12 | g.65170179T>A | CA385673527 | LEMD3 | c.583T>A (p.Ser195Thr) n.597T>A | |
12 | g.65170179T>C | CA385673526 | LEMD3 | c.583T>C (p.Ser195Pro) n.597T>C | |
12 | g.65170179T>G | CA385673525 | LEMD3 | c.583T>G (p.Ser195Ala) n.597T>G | |
12 | g.65170180C>A | CA238907699 | LEMD3 | c.584C>A (p.Ser195Ter) n.598C>A | dbSNP gnomAD v4 |
12 | g.65170180C= | CA2042463783 | LEMD3 | c.584C= (p.Ser195=) n.598C= | |
12 | g.65170180C>G | CA385673528 | LEMD3 | c.584C>G (p.Ser195Trp) n.598C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65170180C>T | CA385673529 | LEMD3 | c.584C>T (p.Ser195Leu) n.598C>T | gnomAD v2 gnomAD v4 |
12 | g.65170180_65170183delinsCGTG | CA2042463778 | LEMD3 | c.584_587delinsCGTG (p.Ser195=) n.598_601delinsCGTG | |
12 | g.65170181G>A | CA480743160 | LEMD3 | c.585G>A (p.Ser195=) n.599G>A | gnomAD v4 |
12 | g.65170181G>C | CA480743164 | LEMD3 | c.585G>C (p.Ser195=) n.599G>C | |
12 | g.65170181G>T | CA480743163 | LEMD3 | c.585G>T (p.Ser195=) n.599G>T | gnomAD v4 |
12 | g.65170185_65170187del | CA605709974 | LEMD3 | c.589_591del (p.Trp197del) n.603_605del | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170182T>A | CA385673530 | LEMD3 | c.586T>A (p.Trp196Arg) n.600T>A | |
12 | g.65170182T>C | CA385673531 | LEMD3 | c.586T>C (p.Trp196Arg) n.600T>C | |
12 | g.65170182T>G | CA385673532 | LEMD3 | c.586T>G (p.Trp196Gly) n.600T>G | |
12 | g.65170183G>A | CA385673535 | LEMD3 | c.587G>A (p.Trp196Ter) n.601G>A | |
12 | g.65170183G>C | CA385673533 | LEMD3 | c.587G>C (p.Trp196Ser) n.601G>C | dbSNP gnomAD v4 |
12 | g.65170183G= | CA2042463788 | LEMD3 | c.587G= (p.Trp196=) n.601G= | |
12 | g.65170183G>T | CA385673534 | LEMD3 | c.587G>T (p.Trp196Leu) n.601G>T | gnomAD v4 |
12 | g.65170184G>A | CA385673536 | LEMD3 | c.588G>A (p.Trp196Ter) n.602G>A | gnomAD v4 |
12 | g.65170184G>C | CA385673537 | LEMD3 | c.588G>C (p.Trp196Cys) n.602G>C | gnomAD v4 |
12 | g.65170184G>T | CA385673538 | LEMD3 | c.588G>T (p.Trp196Cys) n.602G>T | gnomAD v4 |
12 | g.65170185T>A | CA385673539 | LEMD3 | c.589T>A (p.Trp197Arg) n.603T>A | |
12 | g.65170185T>C | CA385673540 | LEMD3 | c.589T>C (p.Trp197Arg) n.603T>C | |
12 | g.65170185T>G | CA385673541 | LEMD3 | c.589T>G (p.Trp197Gly) n.603T>G | |
12 | g.65170185T= | CA2042463790 | LEMD3 | c.589T= (p.Trp197=) n.603T= | |
12 | g.65170186G>A | CA385673542 | LEMD3 | c.590G>A (p.Trp197Ter) n.604G>A | |
12 | g.65170186G>C | CA385673543 | LEMD3 | c.590G>C (p.Trp197Ser) n.604G>C | gnomAD v4 |
12 | g.65170186G= | CA2042463792 | LEMD3 | c.590G= (p.Trp197=) n.604G= | |
12 | g.65170186G>T | CA238907700 | LEMD3 | c.590G>T (p.Trp197Leu) n.604G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170191dup | CA605709975 | LEMD3 | c.595dup (p.Ala199GlyfsTer30) n.609dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170191del | CA2619668221 | LEMD3 | c.595del (p.Ala199ProfsTer?) n.609del | gnomAD v4 |
12 | g.65170187G>A | CA385673544 | LEMD3 | c.591G>A (p.Trp197Ter) n.605G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170187G>C | CA385673545 | LEMD3 | c.591G>C (p.Trp197Cys) n.605G>C | |
12 | g.65170187G= | CA2042463795 | LEMD3 | c.591G= (p.Trp197=) n.605G= | |
12 | g.65170187G>T | CA385673546 | LEMD3 | c.591G>T (p.Trp197Cys) n.605G>T | dbSNP gnomAD v4 |
12 | g.65170188G>A | CA385673547 | LEMD3 | c.592G>A (p.Gly198Arg) n.606G>A | gnomAD v4 |
12 | g.65170188G>C | CA385673549 | LEMD3 | c.592G>C (p.Gly198Arg) n.606G>C | |
12 | g.65170188G>T | CA385673548 | LEMD3 | c.592G>T (p.Gly198Trp) n.606G>T | gnomAD v4 |
12 | g.65170189G>A | CA6670728 | LEMD3 | c.593G>A (p.Gly198Glu) n.607G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170189G>C | CA385673551 | LEMD3 | c.593G>C (p.Gly198Ala) n.607G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170189G= | CA2042463798 | LEMD3 | c.593G= (p.Gly198=) n.607G= | |
12 | g.65170189G>T | CA385673550 | LEMD3 | c.593G>T (p.Gly198Val) n.607G>T | gnomAD v4 |
12 | g.65170190G>A | CA480743183 | LEMD3 | c.594G>A (p.Gly198=) n.608G>A | gnomAD v4 |
12 | g.65170190G>C | CA480743184 | LEMD3 | c.594G>C (p.Gly198=) n.608G>C | |
12 | g.65170190G= | CA2042463801 | LEMD3 | c.594G= (p.Gly198=) n.608G= | |
12 | g.65170190G>T | CA480743185 | LEMD3 | c.594G>T (p.Gly198=) n.608G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65170191G>A | CA385673552 | LEMD3 | c.595G>A (p.Ala199Thr) n.609G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65170191G>C | CA385673553 | LEMD3 | c.595G>C (p.Ala199Pro) n.609G>C | |
12 | g.65170191G= | CA2042463808 | LEMD3 | c.595G= (p.Ala199=) n.609G= | |
12 | g.65170191G>T | CA385673554 | LEMD3 | c.595G>T (p.Ala199Ser) n.609G>T | dbSNP gnomAD v4 |