Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209632642G>A | CA344594328 | LAMB3 | c.763C>T (p.His255Tyr) c.571C>T (p.His191Tyr) | |
1 | g.209632642G>C | CA344594334 | LAMB3 | c.763C>G (p.His255Asp) c.571C>G (p.His191Asp) | |
1 | g.209632642G>T | CA344594331 | LAMB3 | c.763C>A (p.His255Asn) c.571C>A (p.His191Asn) | |
1 | g.209632643G>A | CA423032628 | LAMB3 | c.762C>T (p.Gly254=) c.570C>T (p.Gly190=) | ClinVar dbSNP |
1 | g.209632643G>C | CA423032629 | LAMB3 | c.762C>G (p.Gly254=) c.570C>G (p.Gly190=) | |
1 | g.209632643G>T | CA423032630 | LAMB3 | c.762C>A (p.Gly254=) c.570C>A (p.Gly190=) | |
1 | g.209632644C>A | CA344594338 | LAMB3 | c.761G>T (p.Gly254Val) c.569G>T (p.Gly190Val) | |
1 | g.209632644C>G | CA344594343 | LAMB3 | c.761G>C (p.Gly254Ala) c.569G>C (p.Gly190Ala) | |
1 | g.209632644C>T | CA344594340 | LAMB3 | c.761G>A (p.Gly254Asp) c.569G>A (p.Gly190Asp) | |
1 | g.209632645C>A | CA344594348 | LAMB3 | c.760G>T (p.Gly254Cys) c.568G>T (p.Gly190Cys) | |
1 | g.209632645C= | CA2484301986 | LAMB3 | c.760G= (p.Gly254=) c.568G= (p.Gly190=) | |
1 | g.209632645C>G | CA344594349 | LAMB3 | c.760G>C (p.Gly254Arg) c.568G>C (p.Gly190Arg) | |
1 | g.209632645C>T | CA344594352 | LAMB3 | c.760G>A (p.Gly254Ser) c.568G>A (p.Gly190Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632646G>A | CA1375855 | LAMB3 | c.759C>T (p.His253=) c.567C>T (p.His189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632646G>C | CA344594357 | LAMB3 | c.759C>G (p.His253Gln) c.567C>G (p.His189Gln) | |
1 | g.209632646G= | CA2484301987 | LAMB3 | c.759C= (p.His253=) c.567C= (p.His189=) | |
1 | g.209632646G>T | CA344594359 | LAMB3 | c.759C>A (p.His253Gln) c.567C>A (p.His189Gln) | |
1 | g.209632647_209632648del | CA2580061966 | LAMB3 | c.758_759del (p.His253ArgfsTer4) c.566_567del (p.His189ArgfsTer4) | ClinVar |
1 | g.209632647T>A | CA344594367 | LAMB3 | c.758A>T (p.His253Leu) c.566A>T (p.His189Leu) | gnomAD v4 |
1 | g.209632647T>C | CA344594362 | LAMB3 | c.758A>G (p.His253Arg) c.566A>G (p.His189Arg) | ClinVar gnomAD v4 |
1 | g.209632647T>G | CA344594364 | LAMB3 | c.758A>C (p.His253Pro) c.566A>C (p.His189Pro) | |
1 | g.209632648G>A | CA344594371 | LAMB3 | c.757C>T (p.His253Tyr) c.565C>T (p.His189Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632648G>C | CA344594373 | LAMB3 | c.757C>G (p.His253Asp) c.565C>G (p.His189Asp) | |
1 | g.209632648G= | CA2484301988 | LAMB3 | c.757C= (p.His253=) c.565C= (p.His189=) | |
1 | g.209632648G>T | CA344594375 | LAMB3 | c.757C>A (p.His253Asn) c.565C>A (p.His189Asn) | |
1 | g.209632649A= | CA2484301989 | LAMB3 | c.756T= (p.Cys252=) c.564T= (p.Cys188=) | |
1 | g.209632649A>C | CA344594379 | LAMB3 | c.756T>G (p.Cys252Trp) c.564T>G (p.Cys188Trp) | |
1 | g.209632649A>G | CA423032631 | LAMB3 | c.756T>C (p.Cys252=) c.564T>C (p.Cys188=) | dbSNP gnomAD v4 |
1 | g.209632649A>T | CA344594381 | LAMB3 | c.756T>A (p.Cys252Ter) c.564T>A (p.Cys188Ter) | |
1 | g.209632650C>A | CA1375856 | LAMB3 | c.755G>T (p.Cys252Phe) c.563G>T (p.Cys188Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632650C= | CA1148474061 | LAMB3 | c.755G= (p.Cys252=) c.563G= (p.Cys188=) | |
1 | g.209632650C>G | CA344594384 | LAMB3 | c.755G>C (p.Cys252Ser) c.563G>C (p.Cys188Ser) | |
1 | g.209632650C>T | CA344594386 | LAMB3 | c.755G>A (p.Cys252Tyr) c.563G>A (p.Cys188Tyr) | |
1 | g.209632651A>C | CA344594392 | LAMB3 | c.754T>G (p.Cys252Gly) c.562T>G (p.Cys188Gly) | |
1 | g.209632651A>G | CA344594393 | LAMB3 | c.754T>C (p.Cys252Arg) c.562T>C (p.Cys188Arg) | |
1 | g.209632651A>T | CA344594394 | LAMB3 | c.754T>A (p.Cys252Ser) c.562T>A (p.Cys188Ser) | |
1 | g.209632652G>A | CA423032632 | LAMB3 | c.753C>T (p.Phe251=) c.561C>T (p.Phe187=) | ClinVar gnomAD v4 |
1 | g.209632652G>C | CA344594398 | LAMB3 | c.753C>G (p.Phe251Leu) c.561C>G (p.Phe187Leu) | |
1 | g.209632652G>T | CA344594401 | LAMB3 | c.753C>A (p.Phe251Leu) c.561C>A (p.Phe187Leu) | |
1 | g.209632653A>C | CA344594404 | LAMB3 | c.752T>G (p.Phe251Cys) c.560T>G (p.Phe187Cys) | |
1 | g.209632653A>G | CA344594415 | LAMB3 | c.752T>C (p.Phe251Ser) c.560T>C (p.Phe187Ser) | |
1 | g.209632653A>T | CA344594416 | LAMB3 | c.752T>A (p.Phe251Tyr) c.560T>A (p.Phe187Tyr) | |
1 | g.209632654A= | CA2484301990 | LAMB3 | c.751T= (p.Phe251=) c.559T= (p.Phe187=) | |
1 | g.209632654A>C | CA344594417 | LAMB3 | c.751T>G (p.Phe251Val) c.559T>G (p.Phe187Val) | |
1 | g.209632654A>G | CA36759690 | LAMB3 | c.751T>C (p.Phe251Leu) c.559T>C (p.Phe187Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632654A>T | CA344594421 | LAMB3 | c.751T>A (p.Phe251Ile) c.559T>A (p.Phe187Ile) | |
1 | g.209632655G>A | CA423032633 | LAMB3 | c.750C>T (p.Cys250=) c.558C>T (p.Cys186=) | |
1 | g.209632655G>C | CA344594424 | LAMB3 | c.750C>G (p.Cys250Trp) c.558C>G (p.Cys186Trp) | |
1 | g.209632655G>T | CA344594426 | LAMB3 | c.750C>A (p.Cys250Ter) c.558C>A (p.Cys186Ter) | |
1 | g.209632656C>A | CA344594432 | LAMB3 | c.749G>T (p.Cys250Phe) c.557G>T (p.Cys186Phe) | |
1 | g.209632656C>G | CA344594428 | LAMB3 | c.749G>C (p.Cys250Ser) c.557G>C (p.Cys186Ser) | |
1 | g.209632656C>T | CA344594430 | LAMB3 | c.749G>A (p.Cys250Tyr) c.557G>A (p.Cys186Tyr) | |
1 | g.209632657_209632661del | CA2650322072 | LAMB3 | c.745_749del (p.Ser249LeufsTer7) c.553_557del (p.Ser185LeufsTer7) | gnomAD v4 |
1 | g.209632657A>C | CA344594434 | LAMB3 | c.748T>G (p.Cys250Gly) c.556T>G (p.Cys186Gly) | |
1 | g.209632657A>G | CA344594436 | LAMB3 | c.748T>C (p.Cys250Arg) c.556T>C (p.Cys186Arg) | |
1 | g.209632657A>T | CA344594438 | LAMB3 | c.748T>A (p.Cys250Ser) c.556T>A (p.Cys186Ser) | |
1 | g.209632658G>A | CA1375857 | LAMB3 | c.747C>T (p.Ser249=) c.555C>T (p.Ser185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632658G>C | CA344594443 | LAMB3 | c.747C>G (p.Ser249Arg) c.555C>G (p.Ser185Arg) | |
1 | g.209632658G= | CA2484301991 | LAMB3 | c.747C= (p.Ser249=) c.555C= (p.Ser185=) | |
1 | g.209632658G>T | CA344594445 | LAMB3 | c.747C>A (p.Ser249Arg) c.555C>A (p.Ser185Arg) | |
1 | g.209632658_209632659del | CA2650322080 | LAMB3 | c.746_747del (p.Ser249MetfsTer8) c.554_555del (p.Ser185MetfsTer8) | gnomAD v4 |
1 | g.209632659C>A | CA344594453 | LAMB3 | c.746G>T (p.Ser249Ile) c.554G>T (p.Ser185Ile) | |
1 | g.209632659C= | CA2484301992 | LAMB3 | c.746G= (p.Ser249=) c.554G= (p.Ser185=) | |
1 | g.209632659C>G | CA344594448 | LAMB3 | c.746G>C (p.Ser249Thr) c.554G>C (p.Ser185Thr) | |
1 | g.209632659C>T | CA344594450 | LAMB3 | c.746G>A (p.Ser249Asn) c.554G>A (p.Ser185Asn) | dbSNP gnomAD v4 |
1 | g.209632660T>A | CA344594456 | LAMB3 | c.745A>T (p.Ser249Cys) c.553A>T (p.Ser185Cys) | |
1 | g.209632660T>C | CA344594458 | LAMB3 | c.745A>G (p.Ser249Gly) c.553A>G (p.Ser185Gly) | |
1 | g.209632660T>G | CA344594460 | LAMB3 | c.745A>C (p.Ser249Arg) c.553A>C (p.Ser185Arg) | |
1 | g.209632661C>A | CA423032634 | LAMB3 | c.744G>T (p.Gly248=) c.552G>T (p.Gly184=) | |
1 | g.209632661C= | CA2484301993 | LAMB3 | c.744G= (p.Gly248=) c.552G= (p.Gly184=) | |
1 | g.209632661C>G | CA1375859 | LAMB3 | c.744G>C (p.Gly248=) c.552G>C (p.Gly184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632661C>T | CA1375858 | LAMB3 | c.744G>A (p.Gly248=) c.552G>A (p.Gly184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632662C>A | CA344594467 | LAMB3 | c.743G>T (p.Gly248Val) c.551G>T (p.Gly184Val) | |
1 | g.209632662C>G | CA344594471 | LAMB3 | c.743G>C (p.Gly248Ala) c.551G>C (p.Gly184Ala) | |
1 | g.209632662C>T | CA344594469 | LAMB3 | c.743G>A (p.Gly248Glu) c.551G>A (p.Gly184Glu) | |
1 | g.209632663C>A | CA344594475 | LAMB3 | c.742G>T (p.Gly248Trp) c.550G>T (p.Gly184Trp) | |
1 | g.209632663C>G | CA344594476 | LAMB3 | c.742G>C (p.Gly248Arg) c.550G>C (p.Gly184Arg) | gnomAD v4 |
1 | g.209632663C>T | CA344594479 | LAMB3 | c.742G>A (p.Gly248Arg) c.550G>A (p.Gly184Arg) | |
1 | g.209632664C>A | CA344594482 | LAMB3 | c.741G>T (p.Gln247His) c.549G>T (p.Gln183His) | dbSNP |
1 | g.209632664C= | CA2484301994 | LAMB3 | c.741G= (p.Gln247=) c.549G= (p.Gln183=) | |
1 | g.209632664C>G | CA344594484 | LAMB3 | c.741G>C (p.Gln247His) c.549G>C (p.Gln183His) | gnomAD v4 |
1 | g.209632664C>T | CA423032635 | LAMB3 | c.741G>A (p.Gln247=) c.549G>A (p.Gln183=) | ClinVar |
1 | g.209632665T>A | CA344594486 | LAMB3 | c.740A>T (p.Gln247Leu) c.548A>T (p.Gln183Leu) | gnomAD v4 |
1 | g.209632665T>C | CA344594488 | LAMB3 | c.740A>G (p.Gln247Arg) c.548A>G (p.Gln183Arg) | |
1 | g.209632665T>G | CA344594490 | LAMB3 | c.740A>C (p.Gln247Pro) c.548A>C (p.Gln183Pro) | |
1 | g.209632666G>A | CA344594492 | LAMB3 | c.739C>T (p.Gln247Ter) c.547C>T (p.Gln183Ter) | gnomAD v4 |
1 | g.209632666G>C | CA344594494 | LAMB3 | c.739C>G (p.Gln247Glu) c.547C>G (p.Gln183Glu) | |
1 | g.209632666G>T | CA344594497 | LAMB3 | c.739C>A (p.Gln247Lys) c.547C>A (p.Gln183Lys) | |
1 | g.209632667C>A | CA423032636 | LAMB3 | c.738G>T (p.Leu246=) c.546G>T (p.Leu182=) | |
1 | g.209632667C>G | CA423032637 | LAMB3 | c.738G>C (p.Leu246=) c.546G>C (p.Leu182=) | |
1 | g.209632667C>T | CA423032638 | LAMB3 | c.738G>A (p.Leu246=) c.546G>A (p.Leu182=) | gnomAD v4 |
1 | g.209632668A>C | CA344594500 | LAMB3 | c.737T>G (p.Leu246Arg) c.545T>G (p.Leu182Arg) | |
1 | g.209632668A>G | CA344594504 | LAMB3 | c.737T>C (p.Leu246Pro) c.545T>C (p.Leu182Pro) | |
1 | g.209632668A>T | CA344594502 | LAMB3 | c.737T>A (p.Leu246Gln) c.545T>A (p.Leu182Gln) | |
1 | g.209632669G>A | CA423032639 | LAMB3 | c.736C>T (p.Leu246=) c.544C>T (p.Leu182=) | |
1 | g.209632669G>C | CA344594507 | LAMB3 | c.736C>G (p.Leu246Val) c.544C>G (p.Leu182Val) | gnomAD v4 |
1 | g.209632669G>T | CA344594509 | LAMB3 | c.736C>A (p.Leu246Met) c.544C>A (p.Leu182Met) | |
1 | g.209632670A>C | CA423032640 | LAMB3 | c.735T>G (p.Arg245=) c.543T>G (p.Arg181=) | |
1 | g.209632670A>G | CA423032641 | LAMB3 | c.735T>C (p.Arg245=) c.543T>C (p.Arg181=) | |
1 | g.209632670A>T | CA423032642 | LAMB3 | c.735T>A (p.Arg245=) c.543T>A (p.Arg181=) | |
1 | g.209632671C>A | CA344594512 | LAMB3 | c.734G>T (p.Arg245Leu) c.542G>T (p.Arg181Leu) | |
1 | g.209632671C= | CA1141431189 | LAMB3 | c.734G= (p.Arg245=) c.542G= (p.Arg181=) | |
1 | g.209632671C>G | CA344594514 | LAMB3 | c.734G>C (p.Arg245Pro) c.542G>C (p.Arg181Pro) | |
1 | g.209632671C>T | CA1375860 | LAMB3 | c.734G>A (p.Arg245His) c.542G>A (p.Arg181His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632672G>A | CA1375861 | LAMB3 | c.733C>T (p.Arg245Cys) c.541C>T (p.Arg181Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632672G>C | CA344594520 | LAMB3 | c.733C>G (p.Arg245Gly) c.541C>G (p.Arg181Gly) | dbSNP gnomAD v4 |
1 | g.209632672G= | CA2484301995 | LAMB3 | c.733C= (p.Arg245=) c.541C= (p.Arg181=) | |
1 | g.209632672G>T | CA344594523 | LAMB3 | c.733C>A (p.Arg245Ser) c.541C>A (p.Arg181Ser) | |
1 | g.209632673G>A | CA423032643 | LAMB3 | c.732C>T (p.Leu244=) c.540C>T (p.Leu180=) | |
1 | g.209632673G>C | CA423032645 | LAMB3 | c.732C>G (p.Leu244=) c.540C>G (p.Leu180=) | |
1 | g.209632673G>T | CA423032644 | LAMB3 | c.732C>A (p.Leu244=) c.540C>A (p.Leu180=) | |
1 | g.209632674A>C | CA344594527 | LAMB3 | c.731T>G (p.Leu244Arg) c.539T>G (p.Leu180Arg) | |
1 | g.209632674A>G | CA344594529 | LAMB3 | c.731T>C (p.Leu244Pro) c.539T>C (p.Leu180Pro) | |
1 | g.209632674A>T | CA344594531 | LAMB3 | c.731T>A (p.Leu244His) c.539T>A (p.Leu180His) | |
1 | g.209632675G>A | CA1375862 | LAMB3 | c.730C>T (p.Leu244Phe) c.538C>T (p.Leu180Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632675G>C | CA344594536 | LAMB3 | c.730C>G (p.Leu244Val) c.538C>G (p.Leu180Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632675G= | CA2484301996 | LAMB3 | c.730C= (p.Leu244=) c.538C= (p.Leu180=) | |
1 | g.209632675G>T | CA344594539 | LAMB3 | c.730C>A (p.Leu244Ile) c.538C>A (p.Leu180Ile) | |
1 | g.209632676C>A | CA344594544 | LAMB3 | c.729G>T (p.Gln243His) c.537G>T (p.Gln179His) | |
1 | g.209632676C>G | CA344594541 | LAMB3 | c.729G>C (p.Gln243His) c.537G>C (p.Gln179His) | |
1 | g.209632676C>T | CA423032646 | LAMB3 | c.729G>A (p.Gln243=) c.537G>A (p.Gln179=) | |
1 | g.209632677T>A | CA344594546 | LAMB3 | c.728A>T (p.Gln243Leu) c.536A>T (p.Gln179Leu) | |
1 | g.209632677T>C | CA344594548 | LAMB3 | c.728A>G (p.Gln243Arg) c.536A>G (p.Gln179Arg) | dbSNP |
1 | g.209632677T>G | CA344594552 | LAMB3 | c.728A>C (p.Gln243Pro) c.536A>C (p.Gln179Pro) | |
1 | g.209632677T= | CA2484301997 | LAMB3 | c.728A= (p.Gln243=) c.536A= (p.Gln179=) | |
1 | g.209632678G>A | CA341658 | LAMB3 | c.727C>T (p.Gln243Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632678G>C | CA344594554 | LAMB3 | c.727C>G (p.Gln243Glu) c.535C>G (p.Gln179Glu) | gnomAD v4 |
1 | g.209632678G= | CA1141188135 | LAMB3 | c.727C= (p.Gln243=) c.535C= (p.Gln179=) | |
1 | g.209632678G>T | CA344594557 | LAMB3 | c.727C>A (p.Gln243Lys) c.535C>A (p.Gln179Lys) | |
1 | g.209632680del | CA2650322127 | LAMB3 | c.727del (p.Gln243SerfsTer?) c.535del (p.Gln179SerfsTer?) | gnomAD v4 |
1 | g.209632679G>A | CA423032647 | LAMB3 | c.726C>T (p.Ser242=) c.534C>T (p.Ser178=) | |
1 | g.209632679G>C | CA423032648 | LAMB3 | c.726C>G (p.Ser242=) c.534C>G (p.Ser178=) | dbSNP gnomAD v4 |
1 | g.209632679G>T | CA423032649 | LAMB3 | c.726C>A (p.Ser242=) c.534C>A (p.Ser178=) | |
1 | g.209632680G>A | CA344594560 | LAMB3 | c.725C>T (p.Ser242Phe) c.533C>T (p.Ser178Phe) | gnomAD v4 |
1 | g.209632680G>C | CA344594562 | LAMB3 | c.725C>G (p.Ser242Cys) c.533C>G (p.Ser178Cys) | |
1 | g.209632680G>T | CA344594564 | LAMB3 | c.725C>A (p.Ser242Tyr) c.533C>A (p.Ser178Tyr) | |
1 | g.209632681A>C | CA344594567 | LAMB3 | c.724T>G (p.Ser242Ala) c.532T>G (p.Ser178Ala) | |
1 | g.209632681A>G | CA344594569 | LAMB3 | c.724T>C (p.Ser242Pro) c.532T>C (p.Ser178Pro) | |
1 | g.209632681A>T | CA344594571 | LAMB3 | c.724T>A (p.Ser242Thr) c.532T>A (p.Ser178Thr) | |
1 | g.209632682C>A | CA423032652 | LAMB3 | c.723G>T (p.Val241=) c.531G>T (p.Val177=) | |
1 | g.209632682C>G | CA423032651 | LAMB3 | c.723G>C (p.Val241=) c.531G>C (p.Val177=) | gnomAD v4 |
1 | g.209632682C>T | CA423032650 | LAMB3 | c.723G>A (p.Val241=) c.531G>A (p.Val177=) | |
1 | g.209632682_209632690delinsCACAGCATA | CA2484301998 | LAMB3 | c.715_723delinsTATGCTGTG (p.Tyr239=) c.523_531delinsTATGCTGTG (p.Tyr175=) | |
1 | g.209632683A>C | CA344594584 | LAMB3 | c.722T>G (p.Val241Gly) c.530T>G (p.Val177Gly) | |
1 | g.209632683A>G | CA344594575 | LAMB3 | c.722T>C (p.Val241Ala) c.530T>C (p.Val177Ala) | gnomAD v4 |
1 | g.209632683A>T | CA344594587 | LAMB3 | c.722T>A (p.Val241Glu) c.530T>A (p.Val177Glu) | |
1 | g.209632683_209632690del | CA1375863 | LAMB3 | c.715_722del (p.Tyr239ValfsTer16) c.523_530del (p.Tyr175ValfsTer16) | dbSNP ExAC gnomAD v2 |
1 | g.209632684C>A | CA344594589 | LAMB3 | c.721G>T (p.Val241Leu) c.529G>T (p.Val177Leu) | |
1 | g.209632684C= | CA2484301999 | LAMB3 | c.721G= (p.Val241=) c.529G= (p.Val177=) | |
1 | g.209632684C>G | CA344594591 | LAMB3 | c.721G>C (p.Val241Leu) c.529G>C (p.Val177Leu) | |
1 | g.209632684C>T | CA1375864 | LAMB3 | c.721G>A (p.Val241Met) c.529G>A (p.Val177Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632685A>C | CA423032653 | LAMB3 | c.720T>G (p.Ala240=) c.528T>G (p.Ala176=) | |
1 | g.209632685A>G | CA423032654 | LAMB3 | c.720T>C (p.Ala240=) c.528T>C (p.Ala176=) | gnomAD v4 |
1 | g.209632685A>T | CA423032655 | LAMB3 | c.720T>A (p.Ala240=) c.528T>A (p.Ala176=) | |
1 | g.209632686G>A | CA344594597 | LAMB3 | c.719C>T (p.Ala240Val) c.527C>T (p.Ala176Val) | |
1 | g.209632686G>C | CA344594602 | LAMB3 | c.719C>G (p.Ala240Gly) c.527C>G (p.Ala176Gly) | |
1 | g.209632686G>T | CA344594605 | LAMB3 | c.719C>A (p.Ala240Asp) c.527C>A (p.Ala176Asp) | |
1 | g.209632687C>A | CA344594610 | LAMB3 | c.718G>T (p.Ala240Ser) c.526G>T (p.Ala176Ser) | |
1 | g.209632687C>G | CA344594611 | LAMB3 | c.718G>C (p.Ala240Pro) c.526G>C (p.Ala176Pro) | |
1 | g.209632687C>T | CA344594613 | LAMB3 | c.718G>A (p.Ala240Thr) c.526G>A (p.Ala176Thr) | |
1 | g.209632688A>C | CA344594616 | LAMB3 | c.717T>G (p.Tyr239Ter) c.525T>G (p.Tyr175Ter) | |
1 | g.209632688A>G | CA423032656 | LAMB3 | c.717T>C (p.Tyr239=) c.525T>C (p.Tyr175=) | |
1 | g.209632688A>T | CA344594617 | LAMB3 | c.717T>A (p.Tyr239Ter) c.525T>A (p.Tyr175Ter) | |
1 | g.209632689T>A | CA344594625 | LAMB3 | c.716A>T (p.Tyr239Phe) c.524A>T (p.Tyr175Phe) | |
1 | g.209632689T>C | CA344594621 | LAMB3 | c.716A>G (p.Tyr239Cys) c.524A>G (p.Tyr175Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632689T>G | CA344594623 | LAMB3 | c.716A>C (p.Tyr239Ser) c.524A>C (p.Tyr175Ser) | |
1 | g.209632689T= | CA2484302000 | LAMB3 | c.716A= (p.Tyr239=) c.524A= (p.Tyr175=) | |
1 | g.209632690A>C | CA344594628 | LAMB3 | c.715T>G (p.Tyr239Asp) c.523T>G (p.Tyr175Asp) | |
1 | g.209632690A>G | CA344594631 | LAMB3 | c.715T>C (p.Tyr239His) c.523T>C (p.Tyr175His) | |
1 | g.209632690A>T | CA344594634 | LAMB3 | c.715T>A (p.Tyr239Asn) c.523T>A (p.Tyr175Asn) | |
1 | g.209632691G>A | CA423032657 | LAMB3 | c.714C>T (p.Tyr238=) c.522C>T (p.Tyr174=) | |
1 | g.209632691G>C | CA344594638 | LAMB3 | c.714C>G (p.Tyr238Ter) c.522C>G (p.Tyr174Ter) | |
1 | g.209632691G= | CA2484302001 | LAMB3 | c.714C= (p.Tyr238=) c.522C= (p.Tyr174=) | |
1 | g.209632691G>T | CA344594640 | LAMB3 | c.714C>A (p.Tyr238Ter) c.522C>A (p.Tyr174Ter) | ClinVar dbSNP |
1 | g.209632692T>A | CA344594641 | LAMB3 | c.713A>T (p.Tyr238Phe) c.521A>T (p.Tyr174Phe) | |
1 | g.209632692T>C | CA344594643 | LAMB3 | c.713A>G (p.Tyr238Cys) c.521A>G (p.Tyr174Cys) | |
1 | g.209632692T>G | CA344594646 | LAMB3 | c.713A>C (p.Tyr238Ser) c.521A>C (p.Tyr174Ser) | gnomAD v4 |
1 | g.209632693A>C | CA344594649 | LAMB3 | c.712T>G (p.Tyr238Asp) c.520T>G (p.Tyr174Asp) | |
1 | g.209632693A>G | CA344594652 | LAMB3 | c.712T>C (p.Tyr238His) c.520T>C (p.Tyr174His) | |
1 | g.209632693A>T | CA344594654 | LAMB3 | c.712T>A (p.Tyr238Asn) c.520T>A (p.Tyr174Asn) | gnomAD v4 |
1 | g.209632694G>A | CA423032658 | LAMB3 | c.711C>T (p.Ala237=) c.519C>T (p.Ala173=) | |
1 | g.209632694G>C | CA423032659 | LAMB3 | c.711C>G (p.Ala237=) c.519C>G (p.Ala173=) | |
1 | g.209632694G>T | CA423032660 | LAMB3 | c.711C>A (p.Ala237=) c.519C>A (p.Ala173=) | |
1 | g.209632695G>A | CA344594662 | LAMB3 | c.710C>T (p.Ala237Val) c.518C>T (p.Ala173Val) | dbSNP gnomAD v4 |
1 | g.209632695G>C | CA344594659 | LAMB3 | c.710C>G (p.Ala237Gly) c.518C>G (p.Ala173Gly) | |
1 | g.209632695G= | CA2484302002 | LAMB3 | c.710C= (p.Ala237=) c.518C= (p.Ala173=) | |
1 | g.209632695G>T | CA344594657 | LAMB3 | c.710C>A (p.Ala237Asp) c.518C>A (p.Ala173Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632696C>A | CA344594665 | LAMB3 | c.709G>T (p.Ala237Ser) c.517G>T (p.Ala173Ser) | |
1 | g.209632696C= | CA2484302003 | LAMB3 | c.709G= (p.Ala237=) c.517G= (p.Ala173=) | |
1 | g.209632696C>G | CA344594669 | LAMB3 | c.709G>C (p.Ala237Pro) c.517G>C (p.Ala173Pro) | |
1 | g.209632696C>T | CA1375865 | LAMB3 | c.709G>A (p.Ala237Thr) c.517G>A (p.Ala173Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632697G>A | CA1375866 | LAMB3 | c.708C>T (p.Ser236=) c.516C>T (p.Ser172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632697G>C | CA344594677 | LAMB3 | c.708C>G (p.Ser236Arg) c.516C>G (p.Ser172Arg) | |
1 | g.209632697G= | CA2484302004 | LAMB3 | c.708C= (p.Ser236=) c.516C= (p.Ser172=) | |
1 | g.209632697G>T | CA344594673 | LAMB3 | c.708C>A (p.Ser236Arg) c.516C>A (p.Ser172Arg) | gnomAD v4 |
1 | g.209632697dup | CA2586967988 | LAMB3 | c.708dup (p.Ala237ArgfsTer21) c.516dup (p.Ala173ArgfsTer21) | |
1 | g.209632698C>A | CA344594680 | LAMB3 | c.707G>T (p.Ser236Ile) c.515G>T (p.Ser172Ile) | |
1 | g.209632698C= | CA2484302005 | LAMB3 | c.707G= (p.Ser236=) c.515G= (p.Ser172=) | |
1 | g.209632698C>G | CA1375867 | LAMB3 | c.707G>C (p.Ser236Thr) c.515G>C (p.Ser172Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632698C>T | CA344594685 | LAMB3 | c.707G>A (p.Ser236Asn) c.515G>A (p.Ser172Asn) | |
1 | g.209632699T>A | CA344594686 | LAMB3 | c.706A>T (p.Ser236Cys) c.514A>T (p.Ser172Cys) | |
1 | g.209632699T>C | CA344594687 | LAMB3 | c.706A>G (p.Ser236Gly) c.514A>G (p.Ser172Gly) | |
1 | g.209632699T>G | CA344594688 | LAMB3 | c.706A>C (p.Ser236Arg) c.514A>C (p.Ser172Arg) | |
1 | g.209632700G>A | CA1375868 | LAMB3 | c.705C>T (p.Pro235=) c.513C>T (p.Pro171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632700G>C | CA423032661 | LAMB3 | c.705C>G (p.Pro235=) c.513C>G (p.Pro171=) | |
1 | g.209632700G= | CA1146313291 | LAMB3 | c.705C= (p.Pro235=) c.513C= (p.Pro171=) | |
1 | g.209632700G>T | CA423032662 | LAMB3 | c.705C>A (p.Pro235=) c.513C>A (p.Pro171=) | |
1 | g.209632701G>A | CA344594689 | LAMB3 | c.704C>T (p.Pro235Leu) c.512C>T (p.Pro171Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632701G>C | CA344594690 | LAMB3 | c.704C>G (p.Pro235Arg) c.512C>G (p.Pro171Arg) | |
1 | g.209632701G= | CA2484302006 | LAMB3 | c.704C= (p.Pro235=) c.512C= (p.Pro171=) | |
1 | g.209632701G>T | CA344594691 | LAMB3 | c.704C>A (p.Pro235His) c.512C>A (p.Pro171His) | |
1 | g.209632702G>A | CA344594694 | LAMB3 | c.703C>T (p.Pro235Ser) c.511C>T (p.Pro171Ser) | |
1 | g.209632702G>C | CA344594693 | LAMB3 | c.703C>G (p.Pro235Ala) c.511C>G (p.Pro171Ala) | |
1 | g.209632702G= | CA2484302007 | LAMB3 | c.703C= (p.Pro235=) c.511C= (p.Pro171=) | |
1 | g.209632702G>T | CA344594692 | LAMB3 | c.703C>A (p.Pro235Thr) c.511C>A (p.Pro171Thr) | dbSNP gnomAD v2 |
1 | g.209632703A>C | CA423032663 | LAMB3 | c.702T>G (p.Pro234=) c.510T>G (p.Pro170=) | |
1 | g.209632703A>G | CA423032665 | LAMB3 | c.702T>C (p.Pro234=) c.510T>C (p.Pro170=) | |
1 | g.209632703A>T | CA423032664 | LAMB3 | c.702T>A (p.Pro234=) c.510T>A (p.Pro170=) | |
1 | g.209632704G>A | CA344594695 | LAMB3 | c.701C>T (p.Pro234Leu) c.509C>T (p.Pro170Leu) | gnomAD v4 |
1 | g.209632704G>C | CA344594696 | LAMB3 | c.701C>G (p.Pro234Arg) c.509C>G (p.Pro170Arg) | gnomAD v4 |
1 | g.209632704G= | CA2484302008 | LAMB3 | c.701C= (p.Pro234=) c.509C= (p.Pro170=) | |
1 | g.209632704G>T | CA1375869 | LAMB3 | c.701C>A (p.Pro234His) c.509C>A (p.Pro170His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632705G>A | CA344594697 | LAMB3 | c.700C>T (p.Pro234Ser) c.508C>T (p.Pro170Ser) | |
1 | g.209632705G>C | CA344594698 | LAMB3 | c.700C>G (p.Pro234Ala) c.508C>G (p.Pro170Ala) | |
1 | g.209632705G>T | CA344594699 | LAMB3 | c.700C>A (p.Pro234Thr) c.508C>A (p.Pro170Thr) | gnomAD v4 |
1 | g.209632706G>A | CA423032666 | LAMB3 | c.699C>T (p.His233=) c.507C>T (p.His169=) | |
1 | g.209632706G>C | CA344594700 | LAMB3 | c.699C>G (p.His233Gln) c.507C>G (p.His169Gln) | |
1 | g.209632706G>T | CA344594701 | LAMB3 | c.699C>A (p.His233Gln) c.507C>A (p.His169Gln) | |
1 | g.209632707T>A | CA344594702 | LAMB3 | c.698A>T (p.His233Leu) c.506A>T (p.His169Leu) | |
1 | g.209632707T>C | CA344594703 | LAMB3 | c.698A>G (p.His233Arg) c.506A>G (p.His169Arg) | |
1 | g.209632707T>G | CA344594704 | LAMB3 | c.698A>C (p.His233Pro) c.506A>C (p.His169Pro) | dbSNP |
1 | g.209632707T= | CA2484302010 | LAMB3 | c.698A= (p.His233=) c.506A= (p.His169=) | |
1 | g.209632707_209632708delinsTG | CA2484302009 | LAMB3 | c.697_698delinsCA (p.His233=) c.505_506delinsCA (p.His169=) | |
1 | g.209632708G>A | CA344594706 | LAMB3 | c.697C>T (p.His233Tyr) c.505C>T (p.His169Tyr) | gnomAD v4 |
1 | g.209632708G>C | CA344594707 | LAMB3 | c.697C>G (p.His233Asp) c.505C>G (p.His169Asp) | ClinVar gnomAD v4 |
1 | g.209632708G>T | CA344594705 | LAMB3 | c.697C>A (p.His233Asn) c.505C>A (p.His169Asn) | |
1 | g.209632709del | CA1375870 | LAMB3 | c.697del (p.His233ThrfsTer?) c.505del (p.His169ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632709G>A | CA36759726 | LAMB3 | c.696C>T (p.Tyr232=) c.504C>T (p.Tyr168=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632709G>C | CA344594708 | LAMB3 | c.696C>G (p.Tyr232Ter) c.504C>G (p.Tyr168Ter) | |
1 | g.209632709G= | CA2484302011 | LAMB3 | c.696C= (p.Tyr232=) c.504C= (p.Tyr168=) | |
1 | g.209632709G>T | CA344594709 | LAMB3 | c.696C>A (p.Tyr232Ter) c.504C>A (p.Tyr168Ter) | ClinVar |
1 | g.209632710T>A | CA344594710 | LAMB3 | c.695A>T (p.Tyr232Phe) c.503A>T (p.Tyr168Phe) | |
1 | g.209632710T>C | CA344594711 | LAMB3 | c.695A>G (p.Tyr232Cys) c.503A>G (p.Tyr168Cys) | gnomAD v4 |
1 | g.209632710T>G | CA344594712 | LAMB3 | c.695A>C (p.Tyr232Ser) c.503A>C (p.Tyr168Ser) | |
1 | g.209632711A>C | CA344594713 | LAMB3 | c.694T>G (p.Tyr232Asp) c.502T>G (p.Tyr168Asp) | |
1 | g.209632711A>G | CA344594714 | LAMB3 | c.694T>C (p.Tyr232His) c.502T>C (p.Tyr168His) | gnomAD v4 |
1 | g.209632711A>T | CA344594715 | LAMB3 | c.694T>A (p.Tyr232Asn) c.502T>A (p.Tyr168Asn) | |
1 | g.209632712G>A | CA423032667 | LAMB3 | c.693C>T (p.Gly231=) c.501C>T (p.Gly167=) | |
1 | g.209632712G>C | CA423032669 | LAMB3 | c.693C>G (p.Gly231=) c.501C>G (p.Gly167=) | |
1 | g.209632712G>T | CA423032668 | LAMB3 | c.693C>A (p.Gly231=) c.501C>A (p.Gly167=) | dbSNP gnomAD v4 |
1 | g.209632713C>A | CA1375871 | LAMB3 | c.692G>T (p.Gly231Val) c.500G>T (p.Gly167Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632713C= | CA1141947754 | LAMB3 | c.692G= (p.Gly231=) c.500G= (p.Gly167=) | |
1 | g.209632713C>G | CA344594716 | LAMB3 | c.692G>C (p.Gly231Ala) c.500G>C (p.Gly167Ala) | |
1 | g.209632713C>T | CA344594717 | LAMB3 | c.692G>A (p.Gly231Asp) c.500G>A (p.Gly167Asp) | COSMIC |
1 | g.209632714C>A | CA344594720 | LAMB3 | c.691G>T (p.Gly231Cys) c.499G>T (p.Gly167Cys) | |
1 | g.209632714C>G | CA344594719 | LAMB3 | c.691G>C (p.Gly231Arg) c.499G>C (p.Gly167Arg) | |
1 | g.209632714C>T | CA344594718 | LAMB3 | c.691G>A (p.Gly231Ser) c.499G>A (p.Gly167Ser) | |
1 | g.209632715C>A | CA344594721 | LAMB3 | c.690G>T (p.Arg230Ser) c.498G>T (p.Arg166Ser) | |
1 | g.209632715C= | CA2484302012 | LAMB3 | c.690G= (p.Arg230=) c.498G= (p.Arg166=) | |
1 | g.209632715C>G | CA344594722 | LAMB3 | c.690G>C (p.Arg230Ser) c.498G>C (p.Arg166Ser) | |
1 | g.209632715C>T | CA423032670 | LAMB3 | c.690G>A (p.Arg230=) c.498G>A (p.Arg166=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632716C>A | CA344594723 | LAMB3 | c.689G>T (p.Arg230Met) c.497G>T (p.Arg166Met) | gnomAD v4 |
1 | g.209632716C= | CA1140725346 | LAMB3 | c.689G= (p.Arg230=) c.497G= (p.Arg166=) | |
1 | g.209632716C>G | CA1375872 | LAMB3 | c.689G>C (p.Arg230Thr) c.497G>C (p.Arg166Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632716C>T | CA344594724 | LAMB3 | c.689G>A (p.Arg230Lys) c.497G>A (p.Arg166Lys) | |
1 | g.209632717T>A | CA344594725 | LAMB3 | c.688A>T (p.Arg230Trp) c.496A>T (p.Arg166Trp) | |
1 | g.209632717T>C | CA344594726 | LAMB3 | c.688A>G (p.Arg230Gly) c.496A>G (p.Arg166Gly) | gnomAD v4 |
1 | g.209632717T>G | CA423032671 | LAMB3 | c.688A>C (p.Arg230=) c.496A>C (p.Arg166=) | |
1 | g.209632718T>A | CA344594727 | LAMB3 | c.687A>T (p.Gln229His) c.495A>T (p.Gln165His) | |
1 | g.209632718T>C | CA423032672 | LAMB3 | c.687A>G (p.Gln229=) c.495A>G (p.Gln165=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632718T>G | CA344594728 | LAMB3 | c.687A>C (p.Gln229His) c.495A>C (p.Gln165His) | |
1 | g.209632718T= | CA2484302013 | LAMB3 | c.687A= (p.Gln229=) c.495A= (p.Gln165=) | |
1 | g.209632719T>A | CA344594729 | LAMB3 | c.686A>T (p.Gln229Leu) c.494A>T (p.Gln165Leu) | |
1 | g.209632719T>C | CA344594730 | LAMB3 | c.686A>G (p.Gln229Arg) c.494A>G (p.Gln165Arg) | gnomAD v4 |
1 | g.209632719T>G | CA344594731 | LAMB3 | c.686A>C (p.Gln229Pro) c.494A>C (p.Gln165Pro) | gnomAD v4 |
1 | g.209632720G>A | CA344594734 | LAMB3 | c.685C>T (p.Gln229Ter) c.493C>T (p.Gln165Ter) | |
1 | g.209632720G>C | CA344594733 | LAMB3 | c.685C>G (p.Gln229Glu) c.493C>G (p.Gln165Glu) | |
1 | g.209632720G>T | CA344594732 | LAMB3 | c.685C>A (p.Gln229Lys) c.493C>A (p.Gln165Lys) | |
1 | g.209632721G>A | CA423032673 | LAMB3 | c.684C>T (p.Pro228=) c.492C>T (p.Pro164=) | |
1 | g.209632721G>C | CA423032674 | LAMB3 | c.684C>G (p.Pro228=) c.492C>G (p.Pro164=) | |
1 | g.209632721G>T | CA423032675 | LAMB3 | c.684C>A (p.Pro228=) c.492C>A (p.Pro164=) | |
1 | g.209632722G>A | CA344594735 | LAMB3 | c.683C>T (p.Pro228Leu) c.491C>T (p.Pro164Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632722G>C | CA344594737 | LAMB3 | c.683C>G (p.Pro228Arg) c.491C>G (p.Pro164Arg) | |
1 | g.209632722G= | CA2484302014 | LAMB3 | c.683C= (p.Pro228=) c.491C= (p.Pro164=) | |
1 | g.209632722G>T | CA344594736 | LAMB3 | c.683C>A (p.Pro228His) c.491C>A (p.Pro164His) | |
1 | g.209632723G>A | CA344594738 | LAMB3 | c.682C>T (p.Pro228Ser) c.490C>T (p.Pro164Ser) | gnomAD v4 |
1 | g.209632723G>C | CA344594739 | LAMB3 | c.682C>G (p.Pro228Ala) c.490C>G (p.Pro164Ala) | |
1 | g.209632723G>T | CA344594740 | LAMB3 | c.682C>A (p.Pro228Thr) c.490C>A (p.Pro164Thr) | |
1 | g.209632724C>A | CA423032676 | LAMB3 | c.681G>T (p.Val227=) c.489G>T (p.Val163=) | |
1 | g.209632724C>G | CA423032677 | LAMB3 | c.681G>C (p.Val227=) c.489G>C (p.Val163=) | |
1 | g.209632724C>T | CA423032678 | LAMB3 | c.681G>A (p.Val227=) c.489G>A (p.Val163=) | |
1 | g.209632725A>C | CA344594741 | LAMB3 | c.680T>G (p.Val227Gly) c.488T>G (p.Val163Gly) | |
1 | g.209632725A>G | CA344594742 | LAMB3 | c.680T>C (p.Val227Ala) c.488T>C (p.Val163Ala) | |
1 | g.209632725A>T | CA344594743 | LAMB3 | c.680T>A (p.Val227Glu) c.488T>A (p.Val163Glu) | |
1 | g.209632726C>A | CA344594744 | LAMB3 | c.679G>T (p.Val227Leu) c.487G>T (p.Val163Leu) | |
1 | g.209632726C= | CA2484302015 | LAMB3 | c.679G= (p.Val227=) c.487G= (p.Val163=) | |
1 | g.209632726C>G | CA344594745 | LAMB3 | c.679G>C (p.Val227Leu) c.487G>C (p.Val163Leu) | |
1 | g.209632726C>T | CA344594746 | LAMB3 | c.679G>A (p.Val227Met) c.487G>A (p.Val163Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632727A= | CA2484302016 | LAMB3 | c.678T= (p.Pro226=) c.486T= (p.Pro162=) | |
1 | g.209632727A>C | CA423032679 | LAMB3 | c.678T>G (p.Pro226=) c.486T>G (p.Pro162=) | |
1 | g.209632727A>G | CA1375873 | LAMB3 | c.678T>C (p.Pro226=) c.486T>C (p.Pro162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632727A>T | CA423032680 | LAMB3 | c.678T>A (p.Pro226=) c.486T>A (p.Pro162=) | |
1 | g.209632728G>A | CA344594747 | LAMB3 | c.677C>T (p.Pro226Leu) c.485C>T (p.Pro162Leu) | gnomAD v4 |
1 | g.209632728G>C | CA344594748 | LAMB3 | c.677C>G (p.Pro226Arg) c.485C>G (p.Pro162Arg) | |
1 | g.209632728G>T | CA344594749 | LAMB3 | c.677C>A (p.Pro226His) c.485C>A (p.Pro162His) | |
1 | g.209632729G>A | CA344594750 | LAMB3 | c.676C>T (p.Pro226Ser) c.484C>T (p.Pro162Ser) | |
1 | g.209632729G>C | CA344594752 | LAMB3 | c.676C>G (p.Pro226Ala) c.484C>G (p.Pro162Ala) | |
1 | g.209632729G>T | CA344594751 | LAMB3 | c.676C>A (p.Pro226Thr) c.484C>A (p.Pro162Thr) | |
1 | g.209632730G>A | CA423032681 | LAMB3 | c.675C>T (p.Ala225=) c.483C>T (p.Ala161=) | ClinVar dbSNP |
1 | g.209632730G>C | CA423032682 | LAMB3 | c.675C>G (p.Ala225=) c.483C>G (p.Ala161=) | |
1 | g.209632730G= | CA2484302017 | LAMB3 | c.675C= (p.Ala225=) c.483C= (p.Ala161=) | |
1 | g.209632730G>T | CA423032683 | LAMB3 | c.675C>A (p.Ala225=) c.483C>A (p.Ala161=) | |
1 | g.209632731G>A | CA344594753 | LAMB3 | c.674C>T (p.Ala225Val) c.482C>T (p.Ala161Val) | |
1 | g.209632731G>C | CA344594754 | LAMB3 | c.674C>G (p.Ala225Gly) c.482C>G (p.Ala161Gly) | |
1 | g.209632731G>T | CA344594755 | LAMB3 | c.674C>A (p.Ala225Asp) c.482C>A (p.Ala161Asp) | |
1 | g.209632731_209632732delinsGC | CA2484302018 | LAMB3 | c.673_674delinsGC (p.Ala225=) c.481_482delinsGC (p.Ala161=) | |
1 | g.209632732C>A | CA344594756 | LAMB3 | c.673G>T (p.Ala225Ser) c.481G>T (p.Ala161Ser) | |
1 | g.209632732C>G | CA344594757 | LAMB3 | c.673G>C (p.Ala225Pro) c.481G>C (p.Ala161Pro) | |
1 | g.209632732C>T | CA344594758 | LAMB3 | c.673G>A (p.Ala225Thr) c.481G>A (p.Ala161Thr) | gnomAD v4 |
1 | g.209632733del | CA529000339 | LAMB3 | c.673del (p.Ala225ProfsTer?) c.481del (p.Ala161ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632733C>A | CA1375874 | LAMB3 | c.672G>T (p.Leu224=) c.480G>T (p.Leu160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632733C= | CA1148483919 | LAMB3 | c.672G= (p.Leu224=) c.480G= (p.Leu160=) | |
1 | g.209632733C>G | CA423032685 | LAMB3 | c.672G>C (p.Leu224=) c.480G>C (p.Leu160=) | |
1 | g.209632733C>T | CA423032684 | LAMB3 | c.672G>A (p.Leu224=) c.480G>A (p.Leu160=) | ClinVar |
1 | g.209632734A= | CA1141651618 | LAMB3 | c.671T= (p.Leu224=) c.479T= (p.Leu160=) | |
1 | g.209632734A>C | CA344594759 | LAMB3 | c.671T>G (p.Leu224Arg) c.479T>G (p.Leu160Arg) | |
1 | g.209632734A>G | CA1375875 | LAMB3 | c.671T>C (p.Leu224Pro) c.479T>C (p.Leu160Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632734A>T | CA344594760 | LAMB3 | c.671T>A (p.Leu224Gln) c.479T>A (p.Leu160Gln) | |
1 | g.209632735G>A | CA423032686 | LAMB3 | c.670C>T (p.Leu224=) c.478C>T (p.Leu160=) | |
1 | g.209632735G>C | CA344594762 | LAMB3 | c.670C>G (p.Leu224Val) c.478C>G (p.Leu160Val) | |
1 | g.209632735G>T | CA344594761 | LAMB3 | c.670C>A (p.Leu224Met) c.478C>A (p.Leu160Met) | COSMIC |
1 | g.209632735_209632737del | CA2650322168 | LAMB3 | c.668_670del (p.Arg223_Leu224delinsMet) c.476_478del (p.Arg159_Leu160delinsMet) | gnomAD v4 |
1 | g.209632736C>A | CA344594763 | LAMB3 | c.669G>T (p.Arg223Ser) c.477G>T (p.Arg159Ser) | |
1 | g.209632736C= | CA1143404190 | LAMB3 | c.669G= (p.Arg223=) c.477G= (p.Arg159=) | |
1 | g.209632736C>G | CA344594764 | LAMB3 | c.669G>C (p.Arg223Ser) c.477G>C (p.Arg159Ser) | |
1 | g.209632736C>T | CA1375876 | LAMB3 | c.669G>A (p.Arg223=) c.477G>A (p.Arg159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632737C>A | CA344594765 | LAMB3 | c.668G>T (p.Arg223Met) c.476G>T (p.Arg159Met) | |
1 | g.209632737C>G | CA344594766 | LAMB3 | c.668G>C (p.Arg223Thr) c.476G>C (p.Arg159Thr) | |
1 | g.209632737C>T | CA344594767 | LAMB3 | c.668G>A (p.Arg223Lys) c.476G>A (p.Arg159Lys) | gnomAD v4 |
1 | g.209632738del | CA2573131527 | LAMB3 | c.667del (p.Arg223GlyfsTer?) c.475del (p.Arg159GlyfsTer?) | ClinVar dbSNP |
1 | g.209632738T>A | CA344594768 | LAMB3 | c.667A>T (p.Arg223Trp) c.475A>T (p.Arg159Trp) | |
1 | g.209632738T>C | CA344594769 | LAMB3 | c.667A>G (p.Arg223Gly) c.475A>G (p.Arg159Gly) | |
1 | g.209632738T>G | CA423032687 | LAMB3 | c.667A>C (p.Arg223=) c.475A>C (p.Arg159=) | |
1 | g.209632739G>A | CA1375877 | LAMB3 | c.666C>T (p.Thr222=) c.474C>T (p.Thr158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632739G>C | CA423032689 | LAMB3 | c.666C>G (p.Thr222=) c.474C>G (p.Thr158=) | |
1 | g.209632739G= | CA1148427641 | LAMB3 | c.666C= (p.Thr222=) c.474C= (p.Thr158=) | |
1 | g.209632739G>T | CA423032688 | LAMB3 | c.666C>A (p.Thr222=) c.474C>A (p.Thr158=) | |
1 | g.209632740G>A | CA344594770 | LAMB3 | c.665C>T (p.Thr222Ile) c.473C>T (p.Thr158Ile) | gnomAD v4 |
1 | g.209632740G>C | CA344594771 | LAMB3 | c.665C>G (p.Thr222Ser) c.473C>G (p.Thr158Ser) | |
1 | g.209632740G>T | CA344594772 | LAMB3 | c.665C>A (p.Thr222Asn) c.473C>A (p.Thr158Asn) | |
1 | g.209632741T>A | CA344594774 | LAMB3 | c.664A>T (p.Thr222Ser) c.472A>T (p.Thr158Ser) | gnomAD v4 |
1 | g.209632741T>C | CA344594775 | LAMB3 | c.664A>G (p.Thr222Ala) c.472A>G (p.Thr158Ala) | |
1 | g.209632741T>G | CA344594773 | LAMB3 | c.664A>C (p.Thr222Pro) c.472A>C (p.Thr158Pro) | |
1 | g.209632742G>A | CA423032690 | LAMB3 | c.663C>T (p.Phe221=) c.471C>T (p.Phe157=) | |
1 | g.209632742G>C | CA344594776 | LAMB3 | c.663C>G (p.Phe221Leu) c.471C>G (p.Phe157Leu) | |
1 | g.209632742G>T | CA344594777 | LAMB3 | c.663C>A (p.Phe221Leu) c.471C>A (p.Phe157Leu) |