Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209632621_209632638dupCA2650321988LAMB3c.767_784dup (p.Pro261_Lys262insThrAspArgCysAlaPro)
c.575_592dup (p.Pro197_Lys198insThrAspArgCysAlaPro)
 gnomAD v4
1g.209632626G>ACA344594211LAMB3c.779C>T (p.Ala260Val)
c.587C>T (p.Ala196Val)
1g.209632626G>CCA344594213LAMB3c.779C>G (p.Ala260Gly)
c.587C>G (p.Ala196Gly)
 gnomAD v4
1g.209632626G>TCA344594219LAMB3c.779C>A (p.Ala260Glu)
c.587C>A (p.Ala196Glu)
1g.209632627C>ACA344594222LAMB3c.778G>T (p.Ala260Ser)
c.586G>T (p.Ala196Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.209632627C=CA1141311817LAMB3c.778G= (p.Ala260=)
c.586G= (p.Ala196=)
1g.209632627C>GCA344594224LAMB3c.778G>C (p.Ala260Pro)
c.586G>C (p.Ala196Pro)
1g.209632627C>TCA1375848LAMB3c.778G>A (p.Ala260Thr)
c.586G>A (p.Ala196Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632628G>ACA1375849LAMB3c.777C>T (p.Cys259=)
c.585C>T (p.Cys195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632628G>CCA344594232LAMB3c.777C>G (p.Cys259Trp)
c.585C>G (p.Cys195Trp)
1g.209632628G=CA1142122122LAMB3c.777C= (p.Cys259=)
c.585C= (p.Cys195=)
1g.209632628G>TCA344594230LAMB3c.777C>A (p.Cys259Ter)
c.585C>A (p.Cys195Ter)
1g.209632629C>ACA344594247LAMB3c.776G>T (p.Cys259Phe)
c.584G>T (p.Cys195Phe)
1g.209632629C>GCA344594253LAMB3c.776G>C (p.Cys259Ser)
c.584G>C (p.Cys195Ser)
1g.209632629C>TCA344594256LAMB3c.776G>A (p.Cys259Tyr)
c.584G>A (p.Cys195Tyr)
1g.209632633_209632639delCA2650322014LAMB3c.770_776del (p.Asp257AlafsTer?)
c.578_584del (p.Asp193AlafsTer?)
 gnomAD v4
1g.209632630A>CCA344594258LAMB3c.775T>G (p.Cys259Gly)
c.583T>G (p.Cys195Gly)
1g.209632630A>GCA344594260LAMB3c.775T>C (p.Cys259Arg)
c.583T>C (p.Cys195Arg)
1g.209632630A>TCA344594262LAMB3c.775T>A (p.Cys259Ser)
c.583T>A (p.Cys195Ser)
1g.209632631G>ACA423032622LAMB3c.774C>T (p.Arg258=)
c.582C>T (p.Arg194=)
1g.209632631G>CCA423032623LAMB3c.774C>G (p.Arg258=)
c.582C>G (p.Arg194=)
 gnomAD v4
1g.209632631G>TCA423032624LAMB3c.774C>A (p.Arg258=)
c.582C>A (p.Arg194=)
1g.209632632C>ACA344594269LAMB3c.773G>T (p.Arg258Leu)
c.581G>T (p.Arg194Leu)
1g.209632632C=CA1147411813LAMB3c.773G= (p.Arg258=)
c.581G= (p.Arg194=)
1g.209632632C>GCA344594267LAMB3c.773G>C (p.Arg258Pro)
c.581G>C (p.Arg194Pro)
1g.209632632C>TCA1375850LAMB3c.773G>A (p.Arg258His)
c.581G>A (p.Arg194His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632633G>ACA1375851LAMB3c.772C>T (p.Arg258Cys)
c.580C>T (p.Arg194Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632633G>CCA344594274LAMB3c.772C>G (p.Arg258Gly)
c.580C>G (p.Arg194Gly)
1g.209632633G=CA1142062515LAMB3c.772C= (p.Arg258=)
c.580C= (p.Arg194=)
1g.209632633G>TCA344594276LAMB3c.772C>A (p.Arg258Ser)
c.580C>A (p.Arg194Ser)
 COSMIC
1g.209632634A=CA2484301982LAMB3c.771T= (p.Asp257=)
c.579T= (p.Asp193=)
1g.209632634A>CCA344594278LAMB3c.771T>G (p.Asp257Glu)
c.579T>G (p.Asp193Glu)
1g.209632634A>GCA1375852LAMB3c.771T>C (p.Asp257=)
c.579T>C (p.Asp193=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632634A>TCA344594281LAMB3c.771T>A (p.Asp257Glu)
c.579T>A (p.Asp193Glu)
1g.209632635T>ACA344594284LAMB3c.770A>T (p.Asp257Val)
c.578A>T (p.Asp193Val)
1g.209632635T>CCA344594289LAMB3c.770A>G (p.Asp257Gly)
c.578A>G (p.Asp193Gly)
 dbSNP gnomAD v4
1g.209632635T>GCA344594287LAMB3c.770A>C (p.Asp257Ala)
c.578A>C (p.Asp193Ala)
1g.209632635T=CA2484301983LAMB3c.770A= (p.Asp257=)
c.578A= (p.Asp193=)
1g.209632636C>ACA344594293LAMB3c.769G>T (p.Asp257Tyr)
c.577G>T (p.Asp193Tyr)
1g.209632636C>GCA344594295LAMB3c.769G>C (p.Asp257His)
c.577G>C (p.Asp193His)
1g.209632636C>TCA344594298LAMB3c.769G>A (p.Asp257Asn)
c.577G>A (p.Asp193Asn)
 gnomAD v4
1g.209632637A>CCA423032625LAMB3c.768T>G (p.Ala256=)
c.576T>G (p.Ala192=)
1g.209632637A>GCA423032626LAMB3c.768T>C (p.Ala256=)
c.576T>C (p.Ala192=)
1g.209632637A>TCA423032627LAMB3c.768T>A (p.Ala256=)
c.576T>A (p.Ala192=)
1g.209632638G>ACA344594301LAMB3c.767C>T (p.Ala256Val)
c.575C>T (p.Ala192Val)
1g.209632638G>CCA344594303LAMB3c.767C>G (p.Ala256Gly)
c.575C>G (p.Ala192Gly)
 dbSNP
1g.209632638G=CA2484301984LAMB3c.767C= (p.Ala256=)
c.575C= (p.Ala192=)
1g.209632638G>TCA344594305LAMB3c.767C>A (p.Ala256Asp)
c.575C>A (p.Ala192Asp)
1g.209632639C>ACA344594309LAMB3c.766G>T (p.Ala256Ser)
c.574G>T (p.Ala192Ser)
1g.209632639C>GCA344594311LAMB3c.766G>C (p.Ala256Pro)
c.574G>C (p.Ala192Pro)
1g.209632639C>TCA344594313LAMB3c.766G>A (p.Ala256Thr)
c.574G>A (p.Ala192Thr)
1g.209632640A=CA1149057334LAMB3c.765T= (p.His255=)
c.573T= (p.His191=)
1g.209632640A>CCA344594315LAMB3c.765T>G (p.His255Gln)
c.573T>G (p.His191Gln)
1g.209632640A>GCA1375853LAMB3c.765T>C (p.His255=)
c.573T>C (p.His191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632640A>TCA344594320LAMB3c.765T>A (p.His255Gln)
c.573T>A (p.His191Gln)
1g.209632641T>ACA344594324LAMB3c.764A>T (p.His255Leu)
c.572A>T (p.His191Leu)
1g.209632641T>CCA344594325LAMB3c.764A>G (p.His255Arg)
c.572A>G (p.His191Arg)
1g.209632641T>GCA1375854LAMB3c.764A>C (p.His255Pro)
c.572A>C (p.His191Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632641T=CA2484301985LAMB3c.764A= (p.His255=)
c.572A= (p.His191=)
1g.209632642G>ACA344594328LAMB3c.763C>T (p.His255Tyr)
c.571C>T (p.His191Tyr)
1g.209632642G>CCA344594334LAMB3c.763C>G (p.His255Asp)
c.571C>G (p.His191Asp)
1g.209632642G>TCA344594331LAMB3c.763C>A (p.His255Asn)
c.571C>A (p.His191Asn)
1g.209632643G>ACA423032628LAMB3c.762C>T (p.Gly254=)
c.570C>T (p.Gly190=)
 ClinVar dbSNP
1g.209632643G>CCA423032629LAMB3c.762C>G (p.Gly254=)
c.570C>G (p.Gly190=)
1g.209632643G>TCA423032630LAMB3c.762C>A (p.Gly254=)
c.570C>A (p.Gly190=)
1g.209632644C>ACA344594338LAMB3c.761G>T (p.Gly254Val)
c.569G>T (p.Gly190Val)
1g.209632644C>GCA344594343LAMB3c.761G>C (p.Gly254Ala)
c.569G>C (p.Gly190Ala)
1g.209632644C>TCA344594340LAMB3c.761G>A (p.Gly254Asp)
c.569G>A (p.Gly190Asp)
1g.209632645C>ACA344594348LAMB3c.760G>T (p.Gly254Cys)
c.568G>T (p.Gly190Cys)
1g.209632645C=CA2484301986LAMB3c.760G= (p.Gly254=)
c.568G= (p.Gly190=)
1g.209632645C>GCA344594349LAMB3c.760G>C (p.Gly254Arg)
c.568G>C (p.Gly190Arg)
1g.209632645C>TCA344594352LAMB3c.760G>A (p.Gly254Ser)
c.568G>A (p.Gly190Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632646G>ACA1375855LAMB3c.759C>T (p.His253=)
c.567C>T (p.His189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632646G>CCA344594357LAMB3c.759C>G (p.His253Gln)
c.567C>G (p.His189Gln)
1g.209632646G=CA2484301987LAMB3c.759C= (p.His253=)
c.567C= (p.His189=)
1g.209632646G>TCA344594359LAMB3c.759C>A (p.His253Gln)
c.567C>A (p.His189Gln)
1g.209632647_209632648delCA2580061966LAMB3c.758_759del (p.His253ArgfsTer4)
c.566_567del (p.His189ArgfsTer4)
 ClinVar
1g.209632647T>ACA344594367LAMB3c.758A>T (p.His253Leu)
c.566A>T (p.His189Leu)
 gnomAD v4
1g.209632647T>CCA344594362LAMB3c.758A>G (p.His253Arg)
c.566A>G (p.His189Arg)
 ClinVar gnomAD v4
1g.209632647T>GCA344594364LAMB3c.758A>C (p.His253Pro)
c.566A>C (p.His189Pro)
1g.209632648G>ACA344594371LAMB3c.757C>T (p.His253Tyr)
c.565C>T (p.His189Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632648G>CCA344594373LAMB3c.757C>G (p.His253Asp)
c.565C>G (p.His189Asp)
1g.209632648G=CA2484301988LAMB3c.757C= (p.His253=)
c.565C= (p.His189=)
1g.209632648G>TCA344594375LAMB3c.757C>A (p.His253Asn)
c.565C>A (p.His189Asn)
1g.209632649A=CA2484301989LAMB3c.756T= (p.Cys252=)
c.564T= (p.Cys188=)
1g.209632649A>CCA344594379LAMB3c.756T>G (p.Cys252Trp)
c.564T>G (p.Cys188Trp)
1g.209632649A>GCA423032631LAMB3c.756T>C (p.Cys252=)
c.564T>C (p.Cys188=)
 dbSNP gnomAD v4
1g.209632649A>TCA344594381LAMB3c.756T>A (p.Cys252Ter)
c.564T>A (p.Cys188Ter)
1g.209632650C>ACA1375856LAMB3c.755G>T (p.Cys252Phe)
c.563G>T (p.Cys188Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632650C=CA1148474061LAMB3c.755G= (p.Cys252=)
c.563G= (p.Cys188=)
1g.209632650C>GCA344594384LAMB3c.755G>C (p.Cys252Ser)
c.563G>C (p.Cys188Ser)
1g.209632650C>TCA344594386LAMB3c.755G>A (p.Cys252Tyr)
c.563G>A (p.Cys188Tyr)
1g.209632651A>CCA344594392LAMB3c.754T>G (p.Cys252Gly)
c.562T>G (p.Cys188Gly)
1g.209632651A>GCA344594393LAMB3c.754T>C (p.Cys252Arg)
c.562T>C (p.Cys188Arg)
1g.209632651A>TCA344594394LAMB3c.754T>A (p.Cys252Ser)
c.562T>A (p.Cys188Ser)
1g.209632652G>ACA423032632LAMB3c.753C>T (p.Phe251=)
c.561C>T (p.Phe187=)
 ClinVar gnomAD v4
1g.209632652G>CCA344594398LAMB3c.753C>G (p.Phe251Leu)
c.561C>G (p.Phe187Leu)
1g.209632652G>TCA344594401LAMB3c.753C>A (p.Phe251Leu)
c.561C>A (p.Phe187Leu)
1g.209632653A>CCA344594404LAMB3c.752T>G (p.Phe251Cys)
c.560T>G (p.Phe187Cys)
1g.209632653A>GCA344594415LAMB3c.752T>C (p.Phe251Ser)
c.560T>C (p.Phe187Ser)
1g.209632653A>TCA344594416LAMB3c.752T>A (p.Phe251Tyr)
c.560T>A (p.Phe187Tyr)
1g.209632654A=CA2484301990LAMB3c.751T= (p.Phe251=)
c.559T= (p.Phe187=)
1g.209632654A>CCA344594417LAMB3c.751T>G (p.Phe251Val)
c.559T>G (p.Phe187Val)
1g.209632654A>GCA36759690LAMB3c.751T>C (p.Phe251Leu)
c.559T>C (p.Phe187Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632654A>TCA344594421LAMB3c.751T>A (p.Phe251Ile)
c.559T>A (p.Phe187Ile)
1g.209632655G>ACA423032633LAMB3c.750C>T (p.Cys250=)
c.558C>T (p.Cys186=)
1g.209632655G>CCA344594424LAMB3c.750C>G (p.Cys250Trp)
c.558C>G (p.Cys186Trp)
1g.209632655G>TCA344594426LAMB3c.750C>A (p.Cys250Ter)
c.558C>A (p.Cys186Ter)
1g.209632656C>ACA344594432LAMB3c.749G>T (p.Cys250Phe)
c.557G>T (p.Cys186Phe)
1g.209632656C>GCA344594428LAMB3c.749G>C (p.Cys250Ser)
c.557G>C (p.Cys186Ser)
1g.209632656C>TCA344594430LAMB3c.749G>A (p.Cys250Tyr)
c.557G>A (p.Cys186Tyr)
1g.209632657_209632661delCA2650322072LAMB3c.745_749del (p.Ser249LeufsTer7)
c.553_557del (p.Ser185LeufsTer7)
 gnomAD v4
1g.209632657A>CCA344594434LAMB3c.748T>G (p.Cys250Gly)
c.556T>G (p.Cys186Gly)
1g.209632657A>GCA344594436LAMB3c.748T>C (p.Cys250Arg)
c.556T>C (p.Cys186Arg)
1g.209632657A>TCA344594438LAMB3c.748T>A (p.Cys250Ser)
c.556T>A (p.Cys186Ser)
1g.209632658G>ACA1375857LAMB3c.747C>T (p.Ser249=)
c.555C>T (p.Ser185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632658G>CCA344594443LAMB3c.747C>G (p.Ser249Arg)
c.555C>G (p.Ser185Arg)
1g.209632658G=CA2484301991LAMB3c.747C= (p.Ser249=)
c.555C= (p.Ser185=)
1g.209632658G>TCA344594445LAMB3c.747C>A (p.Ser249Arg)
c.555C>A (p.Ser185Arg)
1g.209632658_209632659delCA2650322080LAMB3c.746_747del (p.Ser249MetfsTer8)
c.554_555del (p.Ser185MetfsTer8)
 gnomAD v4
1g.209632659C>ACA344594453LAMB3c.746G>T (p.Ser249Ile)
c.554G>T (p.Ser185Ile)
1g.209632659C=CA2484301992LAMB3c.746G= (p.Ser249=)
c.554G= (p.Ser185=)
1g.209632659C>GCA344594448LAMB3c.746G>C (p.Ser249Thr)
c.554G>C (p.Ser185Thr)
1g.209632659C>TCA344594450LAMB3c.746G>A (p.Ser249Asn)
c.554G>A (p.Ser185Asn)
 dbSNP gnomAD v4
1g.209632660T>ACA344594456LAMB3c.745A>T (p.Ser249Cys)
c.553A>T (p.Ser185Cys)
1g.209632660T>CCA344594458LAMB3c.745A>G (p.Ser249Gly)
c.553A>G (p.Ser185Gly)
1g.209632660T>GCA344594460LAMB3c.745A>C (p.Ser249Arg)
c.553A>C (p.Ser185Arg)
1g.209632661C>ACA423032634LAMB3c.744G>T (p.Gly248=)
c.552G>T (p.Gly184=)
1g.209632661C=CA2484301993LAMB3c.744G= (p.Gly248=)
c.552G= (p.Gly184=)
1g.209632661C>GCA1375859LAMB3c.744G>C (p.Gly248=)
c.552G>C (p.Gly184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632661C>TCA1375858LAMB3c.744G>A (p.Gly248=)
c.552G>A (p.Gly184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632662C>ACA344594467LAMB3c.743G>T (p.Gly248Val)
c.551G>T (p.Gly184Val)
1g.209632662C>GCA344594471LAMB3c.743G>C (p.Gly248Ala)
c.551G>C (p.Gly184Ala)
1g.209632662C>TCA344594469LAMB3c.743G>A (p.Gly248Glu)
c.551G>A (p.Gly184Glu)
1g.209632663C>ACA344594475LAMB3c.742G>T (p.Gly248Trp)
c.550G>T (p.Gly184Trp)
1g.209632663C>GCA344594476LAMB3c.742G>C (p.Gly248Arg)
c.550G>C (p.Gly184Arg)
 gnomAD v4
1g.209632663C>TCA344594479LAMB3c.742G>A (p.Gly248Arg)
c.550G>A (p.Gly184Arg)
1g.209632664C>ACA344594482LAMB3c.741G>T (p.Gln247His)
c.549G>T (p.Gln183His)
 dbSNP
1g.209632664C=CA2484301994LAMB3c.741G= (p.Gln247=)
c.549G= (p.Gln183=)
1g.209632664C>GCA344594484LAMB3c.741G>C (p.Gln247His)
c.549G>C (p.Gln183His)
 gnomAD v4
1g.209632664C>TCA423032635LAMB3c.741G>A (p.Gln247=)
c.549G>A (p.Gln183=)
 ClinVar
1g.209632665T>ACA344594486LAMB3c.740A>T (p.Gln247Leu)
c.548A>T (p.Gln183Leu)
 gnomAD v4
1g.209632665T>CCA344594488LAMB3c.740A>G (p.Gln247Arg)
c.548A>G (p.Gln183Arg)
1g.209632665T>GCA344594490LAMB3c.740A>C (p.Gln247Pro)
c.548A>C (p.Gln183Pro)
1g.209632666G>ACA344594492LAMB3c.739C>T (p.Gln247Ter)
c.547C>T (p.Gln183Ter)
 gnomAD v4
1g.209632666G>CCA344594494LAMB3c.739C>G (p.Gln247Glu)
c.547C>G (p.Gln183Glu)
1g.209632666G>TCA344594497LAMB3c.739C>A (p.Gln247Lys)
c.547C>A (p.Gln183Lys)
1g.209632667C>ACA423032636LAMB3c.738G>T (p.Leu246=)
c.546G>T (p.Leu182=)
1g.209632667C>GCA423032637LAMB3c.738G>C (p.Leu246=)
c.546G>C (p.Leu182=)
1g.209632667C>TCA423032638LAMB3c.738G>A (p.Leu246=)
c.546G>A (p.Leu182=)
 gnomAD v4
1g.209632668A>CCA344594500LAMB3c.737T>G (p.Leu246Arg)
c.545T>G (p.Leu182Arg)
1g.209632668A>GCA344594504LAMB3c.737T>C (p.Leu246Pro)
c.545T>C (p.Leu182Pro)
1g.209632668A>TCA344594502LAMB3c.737T>A (p.Leu246Gln)
c.545T>A (p.Leu182Gln)
1g.209632669G>ACA423032639LAMB3c.736C>T (p.Leu246=)
c.544C>T (p.Leu182=)
1g.209632669G>CCA344594507LAMB3c.736C>G (p.Leu246Val)
c.544C>G (p.Leu182Val)
 gnomAD v4
1g.209632669G>TCA344594509LAMB3c.736C>A (p.Leu246Met)
c.544C>A (p.Leu182Met)
1g.209632670A>CCA423032640LAMB3c.735T>G (p.Arg245=)
c.543T>G (p.Arg181=)
1g.209632670A>GCA423032641LAMB3c.735T>C (p.Arg245=)
c.543T>C (p.Arg181=)
1g.209632670A>TCA423032642LAMB3c.735T>A (p.Arg245=)
c.543T>A (p.Arg181=)
1g.209632671C>ACA344594512LAMB3c.734G>T (p.Arg245Leu)
c.542G>T (p.Arg181Leu)
1g.209632671C=CA1141431189LAMB3c.734G= (p.Arg245=)
c.542G= (p.Arg181=)
1g.209632671C>GCA344594514LAMB3c.734G>C (p.Arg245Pro)
c.542G>C (p.Arg181Pro)
1g.209632671C>TCA1375860LAMB3c.734G>A (p.Arg245His)
c.542G>A (p.Arg181His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632672G>ACA1375861LAMB3c.733C>T (p.Arg245Cys)
c.541C>T (p.Arg181Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632672G>CCA344594520LAMB3c.733C>G (p.Arg245Gly)
c.541C>G (p.Arg181Gly)
 dbSNP gnomAD v4
1g.209632672G=CA2484301995LAMB3c.733C= (p.Arg245=)
c.541C= (p.Arg181=)
1g.209632672G>TCA344594523LAMB3c.733C>A (p.Arg245Ser)
c.541C>A (p.Arg181Ser)
1g.209632673G>ACA423032643LAMB3c.732C>T (p.Leu244=)
c.540C>T (p.Leu180=)
1g.209632673G>CCA423032645LAMB3c.732C>G (p.Leu244=)
c.540C>G (p.Leu180=)
1g.209632673G>TCA423032644LAMB3c.732C>A (p.Leu244=)
c.540C>A (p.Leu180=)
1g.209632674A>CCA344594527LAMB3c.731T>G (p.Leu244Arg)
c.539T>G (p.Leu180Arg)
1g.209632674A>GCA344594529LAMB3c.731T>C (p.Leu244Pro)
c.539T>C (p.Leu180Pro)
1g.209632674A>TCA344594531LAMB3c.731T>A (p.Leu244His)
c.539T>A (p.Leu180His)
1g.209632675G>ACA1375862LAMB3c.730C>T (p.Leu244Phe)
c.538C>T (p.Leu180Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632675G>CCA344594536LAMB3c.730C>G (p.Leu244Val)
c.538C>G (p.Leu180Val)
 dbSNP gnomAD v3 gnomAD v4
1g.209632675G=CA2484301996LAMB3c.730C= (p.Leu244=)
c.538C= (p.Leu180=)
1g.209632675G>TCA344594539LAMB3c.730C>A (p.Leu244Ile)
c.538C>A (p.Leu180Ile)
1g.209632676C>ACA344594544LAMB3c.729G>T (p.Gln243His)
c.537G>T (p.Gln179His)
1g.209632676C>GCA344594541LAMB3c.729G>C (p.Gln243His)
c.537G>C (p.Gln179His)
1g.209632676C>TCA423032646LAMB3c.729G>A (p.Gln243=)
c.537G>A (p.Gln179=)
1g.209632677T>ACA344594546LAMB3c.728A>T (p.Gln243Leu)
c.536A>T (p.Gln179Leu)
1g.209632677T>CCA344594548LAMB3c.728A>G (p.Gln243Arg)
c.536A>G (p.Gln179Arg)
 dbSNP
1g.209632677T>GCA344594552LAMB3c.728A>C (p.Gln243Pro)
c.536A>C (p.Gln179Pro)
1g.209632677T=CA2484301997LAMB3c.728A= (p.Gln243=)
c.536A= (p.Gln179=)
1g.209632678G>ACA341658LAMB3c.727C>T (p.Gln243Ter)
c.535C>T (p.Gln179Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632678G>CCA344594554LAMB3c.727C>G (p.Gln243Glu)
c.535C>G (p.Gln179Glu)
 gnomAD v4
1g.209632678G=CA1141188135LAMB3c.727C= (p.Gln243=)
c.535C= (p.Gln179=)
1g.209632678G>TCA344594557LAMB3c.727C>A (p.Gln243Lys)
c.535C>A (p.Gln179Lys)
1g.209632680delCA2650322127LAMB3c.727del (p.Gln243SerfsTer?)
c.535del (p.Gln179SerfsTer?)
 gnomAD v4
1g.209632679G>ACA423032647LAMB3c.726C>T (p.Ser242=)
c.534C>T (p.Ser178=)
1g.209632679G>CCA423032648LAMB3c.726C>G (p.Ser242=)
c.534C>G (p.Ser178=)
 dbSNP gnomAD v4
1g.209632679G>TCA423032649LAMB3c.726C>A (p.Ser242=)
c.534C>A (p.Ser178=)
1g.209632680G>ACA344594560LAMB3c.725C>T (p.Ser242Phe)
c.533C>T (p.Ser178Phe)
 gnomAD v4
1g.209632680G>CCA344594562LAMB3c.725C>G (p.Ser242Cys)
c.533C>G (p.Ser178Cys)
1g.209632680G>TCA344594564LAMB3c.725C>A (p.Ser242Tyr)
c.533C>A (p.Ser178Tyr)
1g.209632681A>CCA344594567LAMB3c.724T>G (p.Ser242Ala)
c.532T>G (p.Ser178Ala)
1g.209632681A>GCA344594569LAMB3c.724T>C (p.Ser242Pro)
c.532T>C (p.Ser178Pro)
1g.209632681A>TCA344594571LAMB3c.724T>A (p.Ser242Thr)
c.532T>A (p.Ser178Thr)
1g.209632682C>ACA423032652LAMB3c.723G>T (p.Val241=)
c.531G>T (p.Val177=)
1g.209632682C>GCA423032651LAMB3c.723G>C (p.Val241=)
c.531G>C (p.Val177=)
 gnomAD v4
1g.209632682C>TCA423032650LAMB3c.723G>A (p.Val241=)
c.531G>A (p.Val177=)
1g.209632682_209632690delinsCACAGCATACA2484301998LAMB3c.715_723delinsTATGCTGTG (p.Tyr239=)
c.523_531delinsTATGCTGTG (p.Tyr175=)
1g.209632683A>CCA344594584LAMB3c.722T>G (p.Val241Gly)
c.530T>G (p.Val177Gly)
1g.209632683A>GCA344594575LAMB3c.722T>C (p.Val241Ala)
c.530T>C (p.Val177Ala)
 gnomAD v4
1g.209632683A>TCA344594587LAMB3c.722T>A (p.Val241Glu)
c.530T>A (p.Val177Glu)
1g.209632683_209632690delCA1375863LAMB3c.715_722del (p.Tyr239ValfsTer16)
c.523_530del (p.Tyr175ValfsTer16)
 dbSNP ExAC gnomAD v2
1g.209632684C>ACA344594589LAMB3c.721G>T (p.Val241Leu)
c.529G>T (p.Val177Leu)
1g.209632684C=CA2484301999LAMB3c.721G= (p.Val241=)
c.529G= (p.Val177=)
1g.209632684C>GCA344594591LAMB3c.721G>C (p.Val241Leu)
c.529G>C (p.Val177Leu)
1g.209632684C>TCA1375864LAMB3c.721G>A (p.Val241Met)
c.529G>A (p.Val177Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632685A>CCA423032653LAMB3c.720T>G (p.Ala240=)
c.528T>G (p.Ala176=)
1g.209632685A>GCA423032654LAMB3c.720T>C (p.Ala240=)
c.528T>C (p.Ala176=)
 gnomAD v4
1g.209632685A>TCA423032655LAMB3c.720T>A (p.Ala240=)
c.528T>A (p.Ala176=)
1g.209632686G>ACA344594597LAMB3c.719C>T (p.Ala240Val)
c.527C>T (p.Ala176Val)
1g.209632686G>CCA344594602LAMB3c.719C>G (p.Ala240Gly)
c.527C>G (p.Ala176Gly)
1g.209632686G>TCA344594605LAMB3c.719C>A (p.Ala240Asp)
c.527C>A (p.Ala176Asp)
1g.209632687C>ACA344594610LAMB3c.718G>T (p.Ala240Ser)
c.526G>T (p.Ala176Ser)
1g.209632687C>GCA344594611LAMB3c.718G>C (p.Ala240Pro)
c.526G>C (p.Ala176Pro)
1g.209632687C>TCA344594613LAMB3c.718G>A (p.Ala240Thr)
c.526G>A (p.Ala176Thr)
1g.209632688A>CCA344594616LAMB3c.717T>G (p.Tyr239Ter)
c.525T>G (p.Tyr175Ter)
1g.209632688A>GCA423032656LAMB3c.717T>C (p.Tyr239=)
c.525T>C (p.Tyr175=)
1g.209632688A>TCA344594617LAMB3c.717T>A (p.Tyr239Ter)
c.525T>A (p.Tyr175Ter)
1g.209632689T>ACA344594625LAMB3c.716A>T (p.Tyr239Phe)
c.524A>T (p.Tyr175Phe)
1g.209632689T>CCA344594621LAMB3c.716A>G (p.Tyr239Cys)
c.524A>G (p.Tyr175Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.209632689T>GCA344594623LAMB3c.716A>C (p.Tyr239Ser)
c.524A>C (p.Tyr175Ser)
1g.209632689T=CA2484302000LAMB3c.716A= (p.Tyr239=)
c.524A= (p.Tyr175=)
1g.209632690A>CCA344594628LAMB3c.715T>G (p.Tyr239Asp)
c.523T>G (p.Tyr175Asp)
1g.209632690A>GCA344594631LAMB3c.715T>C (p.Tyr239His)
c.523T>C (p.Tyr175His)
1g.209632690A>TCA344594634LAMB3c.715T>A (p.Tyr239Asn)
c.523T>A (p.Tyr175Asn)
1g.209632691G>ACA423032657LAMB3c.714C>T (p.Tyr238=)
c.522C>T (p.Tyr174=)
1g.209632691G>CCA344594638LAMB3c.714C>G (p.Tyr238Ter)
c.522C>G (p.Tyr174Ter)
1g.209632691G=CA2484302001LAMB3c.714C= (p.Tyr238=)
c.522C= (p.Tyr174=)
1g.209632691G>TCA344594640LAMB3c.714C>A (p.Tyr238Ter)
c.522C>A (p.Tyr174Ter)
 ClinVar dbSNP
1g.209632692T>ACA344594641LAMB3c.713A>T (p.Tyr238Phe)
c.521A>T (p.Tyr174Phe)
1g.209632692T>CCA344594643LAMB3c.713A>G (p.Tyr238Cys)
c.521A>G (p.Tyr174Cys)
1g.209632692T>GCA344594646LAMB3c.713A>C (p.Tyr238Ser)
c.521A>C (p.Tyr174Ser)
 gnomAD v4
1g.209632693A>CCA344594649LAMB3c.712T>G (p.Tyr238Asp)
c.520T>G (p.Tyr174Asp)
1g.209632693A>GCA344594652LAMB3c.712T>C (p.Tyr238His)
c.520T>C (p.Tyr174His)
1g.209632693A>TCA344594654LAMB3c.712T>A (p.Tyr238Asn)
c.520T>A (p.Tyr174Asn)
 gnomAD v4
1g.209632694G>ACA423032658LAMB3c.711C>T (p.Ala237=)
c.519C>T (p.Ala173=)
1g.209632694G>CCA423032659LAMB3c.711C>G (p.Ala237=)
c.519C>G (p.Ala173=)
1g.209632694G>TCA423032660LAMB3c.711C>A (p.Ala237=)
c.519C>A (p.Ala173=)
1g.209632695G>ACA344594662LAMB3c.710C>T (p.Ala237Val)
c.518C>T (p.Ala173Val)
 dbSNP gnomAD v4
1g.209632695G>CCA344594659LAMB3c.710C>G (p.Ala237Gly)
c.518C>G (p.Ala173Gly)
1g.209632695G=CA2484302002LAMB3c.710C= (p.Ala237=)
c.518C= (p.Ala173=)
1g.209632695G>TCA344594657LAMB3c.710C>A (p.Ala237Asp)
c.518C>A (p.Ala173Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.209632696C>ACA344594665LAMB3c.709G>T (p.Ala237Ser)
c.517G>T (p.Ala173Ser)
1g.209632696C=CA2484302003LAMB3c.709G= (p.Ala237=)
c.517G= (p.Ala173=)
1g.209632696C>GCA344594669LAMB3c.709G>C (p.Ala237Pro)
c.517G>C (p.Ala173Pro)
1g.209632696C>TCA1375865LAMB3c.709G>A (p.Ala237Thr)
c.517G>A (p.Ala173Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632697G>ACA1375866LAMB3c.708C>T (p.Ser236=)
c.516C>T (p.Ser172=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632697G>CCA344594677LAMB3c.708C>G (p.Ser236Arg)
c.516C>G (p.Ser172Arg)
1g.209632697G=CA2484302004LAMB3c.708C= (p.Ser236=)
c.516C= (p.Ser172=)
1g.209632697G>TCA344594673LAMB3c.708C>A (p.Ser236Arg)
c.516C>A (p.Ser172Arg)
 gnomAD v4
1g.209632697dupCA2586967988LAMB3c.708dup (p.Ala237ArgfsTer21)
c.516dup (p.Ala173ArgfsTer21)
1g.209632698C>ACA344594680LAMB3c.707G>T (p.Ser236Ile)
c.515G>T (p.Ser172Ile)
1g.209632698C=CA2484302005LAMB3c.707G= (p.Ser236=)
c.515G= (p.Ser172=)
1g.209632698C>GCA1375867LAMB3c.707G>C (p.Ser236Thr)
c.515G>C (p.Ser172Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632698C>TCA344594685LAMB3c.707G>A (p.Ser236Asn)
c.515G>A (p.Ser172Asn)
1g.209632699T>ACA344594686LAMB3c.706A>T (p.Ser236Cys)
c.514A>T (p.Ser172Cys)
1g.209632699T>CCA344594687LAMB3c.706A>G (p.Ser236Gly)
c.514A>G (p.Ser172Gly)
1g.209632699T>GCA344594688LAMB3c.706A>C (p.Ser236Arg)
c.514A>C (p.Ser172Arg)
1g.209632700G>ACA1375868LAMB3c.705C>T (p.Pro235=)
c.513C>T (p.Pro171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632700G>CCA423032661LAMB3c.705C>G (p.Pro235=)
c.513C>G (p.Pro171=)
1g.209632700G=CA1146313291LAMB3c.705C= (p.Pro235=)
c.513C= (p.Pro171=)
1g.209632700G>TCA423032662LAMB3c.705C>A (p.Pro235=)
c.513C>A (p.Pro171=)
1g.209632701G>ACA344594689LAMB3c.704C>T (p.Pro235Leu)
c.512C>T (p.Pro171Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.209632701G>CCA344594690LAMB3c.704C>G (p.Pro235Arg)
c.512C>G (p.Pro171Arg)
1g.209632701G=CA2484302006LAMB3c.704C= (p.Pro235=)
c.512C= (p.Pro171=)
1g.209632701G>TCA344594691LAMB3c.704C>A (p.Pro235His)
c.512C>A (p.Pro171His)
1g.209632702G>ACA344594694LAMB3c.703C>T (p.Pro235Ser)
c.511C>T (p.Pro171Ser)
1g.209632702G>CCA344594693LAMB3c.703C>G (p.Pro235Ala)
c.511C>G (p.Pro171Ala)
1g.209632702G=CA2484302007LAMB3c.703C= (p.Pro235=)
c.511C= (p.Pro171=)
1g.209632702G>TCA344594692LAMB3c.703C>A (p.Pro235Thr)
c.511C>A (p.Pro171Thr)
 dbSNP gnomAD v2
1g.209632703A>CCA423032663LAMB3c.702T>G (p.Pro234=)
c.510T>G (p.Pro170=)
1g.209632703A>GCA423032665LAMB3c.702T>C (p.Pro234=)
c.510T>C (p.Pro170=)
1g.209632703A>TCA423032664LAMB3c.702T>A (p.Pro234=)
c.510T>A (p.Pro170=)
1g.209632704G>ACA344594695LAMB3c.701C>T (p.Pro234Leu)
c.509C>T (p.Pro170Leu)
 gnomAD v4
1g.209632704G>CCA344594696LAMB3c.701C>G (p.Pro234Arg)
c.509C>G (p.Pro170Arg)
 gnomAD v4
1g.209632704G=CA2484302008LAMB3c.701C= (p.Pro234=)
c.509C= (p.Pro170=)
1g.209632704G>TCA1375869LAMB3c.701C>A (p.Pro234His)
c.509C>A (p.Pro170His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632705G>ACA344594697LAMB3c.700C>T (p.Pro234Ser)
c.508C>T (p.Pro170Ser)
1g.209632705G>CCA344594698LAMB3c.700C>G (p.Pro234Ala)
c.508C>G (p.Pro170Ala)
1g.209632705G>TCA344594699LAMB3c.700C>A (p.Pro234Thr)
c.508C>A (p.Pro170Thr)
 gnomAD v4
1g.209632706G>ACA423032666LAMB3c.699C>T (p.His233=)
c.507C>T (p.His169=)
1g.209632706G>CCA344594700LAMB3c.699C>G (p.His233Gln)
c.507C>G (p.His169Gln)
1g.209632706G>TCA344594701LAMB3c.699C>A (p.His233Gln)
c.507C>A (p.His169Gln)
1g.209632707T>ACA344594702LAMB3c.698A>T (p.His233Leu)
c.506A>T (p.His169Leu)
1g.209632707T>CCA344594703LAMB3c.698A>G (p.His233Arg)
c.506A>G (p.His169Arg)
1g.209632707T>GCA344594704LAMB3c.698A>C (p.His233Pro)
c.506A>C (p.His169Pro)
 dbSNP
1g.209632707T=CA2484302010LAMB3c.698A= (p.His233=)
c.506A= (p.His169=)
1g.209632707_209632708delinsTGCA2484302009LAMB3c.697_698delinsCA (p.His233=)
c.505_506delinsCA (p.His169=)
1g.209632708G>ACA344594706LAMB3c.697C>T (p.His233Tyr)
c.505C>T (p.His169Tyr)
 gnomAD v4
1g.209632708G>CCA344594707LAMB3c.697C>G (p.His233Asp)
c.505C>G (p.His169Asp)
 ClinVar gnomAD v4
1g.209632708G>TCA344594705LAMB3c.697C>A (p.His233Asn)
c.505C>A (p.His169Asn)
1g.209632709delCA1375870LAMB3c.697del (p.His233ThrfsTer?)
c.505del (p.His169ThrfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632709G>ACA36759726LAMB3c.696C>T (p.Tyr232=)
c.504C>T (p.Tyr168=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632709G>CCA344594708LAMB3c.696C>G (p.Tyr232Ter)
c.504C>G (p.Tyr168Ter)
1g.209632709G=CA2484302011LAMB3c.696C= (p.Tyr232=)
c.504C= (p.Tyr168=)
1g.209632709G>TCA344594709LAMB3c.696C>A (p.Tyr232Ter)
c.504C>A (p.Tyr168Ter)
 ClinVar
1g.209632710T>ACA344594710LAMB3c.695A>T (p.Tyr232Phe)
c.503A>T (p.Tyr168Phe)
1g.209632710T>CCA344594711LAMB3c.695A>G (p.Tyr232Cys)
c.503A>G (p.Tyr168Cys)
 gnomAD v4
1g.209632710T>GCA344594712LAMB3c.695A>C (p.Tyr232Ser)
c.503A>C (p.Tyr168Ser)
1g.209632711A>CCA344594713LAMB3c.694T>G (p.Tyr232Asp)
c.502T>G (p.Tyr168Asp)
1g.209632711A>GCA344594714LAMB3c.694T>C (p.Tyr232His)
c.502T>C (p.Tyr168His)
 gnomAD v4
1g.209632711A>TCA344594715LAMB3c.694T>A (p.Tyr232Asn)
c.502T>A (p.Tyr168Asn)
1g.209632712G>ACA423032667LAMB3c.693C>T (p.Gly231=)
c.501C>T (p.Gly167=)
1g.209632712G>CCA423032669LAMB3c.693C>G (p.Gly231=)
c.501C>G (p.Gly167=)
1g.209632712G>TCA423032668LAMB3c.693C>A (p.Gly231=)
c.501C>A (p.Gly167=)
 dbSNP gnomAD v4
1g.209632713C>ACA1375871LAMB3c.692G>T (p.Gly231Val)
c.500G>T (p.Gly167Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632713C=CA1141947754LAMB3c.692G= (p.Gly231=)
c.500G= (p.Gly167=)
1g.209632713C>GCA344594716LAMB3c.692G>C (p.Gly231Ala)
c.500G>C (p.Gly167Ala)
1g.209632713C>TCA344594717LAMB3c.692G>A (p.Gly231Asp)
c.500G>A (p.Gly167Asp)
 COSMIC
1g.209632714C>ACA344594720LAMB3c.691G>T (p.Gly231Cys)
c.499G>T (p.Gly167Cys)
1g.209632714C>GCA344594719LAMB3c.691G>C (p.Gly231Arg)
c.499G>C (p.Gly167Arg)
1g.209632714C>TCA344594718LAMB3c.691G>A (p.Gly231Ser)
c.499G>A (p.Gly167Ser)
1g.209632715C>ACA344594721LAMB3c.690G>T (p.Arg230Ser)
c.498G>T (p.Arg166Ser)
1g.209632715C=CA2484302012LAMB3c.690G= (p.Arg230=)
c.498G= (p.Arg166=)
1g.209632715C>GCA344594722LAMB3c.690G>C (p.Arg230Ser)
c.498G>C (p.Arg166Ser)
1g.209632715C>TCA423032670LAMB3c.690G>A (p.Arg230=)
c.498G>A (p.Arg166=)
 dbSNP gnomAD v2 gnomAD v4
1g.209632716C>ACA344594723LAMB3c.689G>T (p.Arg230Met)
c.497G>T (p.Arg166Met)
 gnomAD v4
1g.209632716C=CA1140725346LAMB3c.689G= (p.Arg230=)
c.497G= (p.Arg166=)
1g.209632716C>GCA1375872LAMB3c.689G>C (p.Arg230Thr)
c.497G>C (p.Arg166Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632716C>TCA344594724LAMB3c.689G>A (p.Arg230Lys)
c.497G>A (p.Arg166Lys)
1g.209632717T>ACA344594725LAMB3c.688A>T (p.Arg230Trp)
c.496A>T (p.Arg166Trp)
1g.209632717T>CCA344594726LAMB3c.688A>G (p.Arg230Gly)
c.496A>G (p.Arg166Gly)
 gnomAD v4
1g.209632717T>GCA423032671LAMB3c.688A>C (p.Arg230=)
c.496A>C (p.Arg166=)
1g.209632718T>ACA344594727LAMB3c.687A>T (p.Gln229His)
c.495A>T (p.Gln165His)
1g.209632718T>CCA423032672LAMB3c.687A>G (p.Gln229=)
c.495A>G (p.Gln165=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632718T>GCA344594728LAMB3c.687A>C (p.Gln229His)
c.495A>C (p.Gln165His)
1g.209632718T=CA2484302013LAMB3c.687A= (p.Gln229=)
c.495A= (p.Gln165=)
1g.209632719T>ACA344594729LAMB3c.686A>T (p.Gln229Leu)
c.494A>T (p.Gln165Leu)
1g.209632719T>CCA344594730LAMB3c.686A>G (p.Gln229Arg)
c.494A>G (p.Gln165Arg)
 gnomAD v4
1g.209632719T>GCA344594731LAMB3c.686A>C (p.Gln229Pro)
c.494A>C (p.Gln165Pro)
 gnomAD v4
1g.209632720G>ACA344594734LAMB3c.685C>T (p.Gln229Ter)
c.493C>T (p.Gln165Ter)
1g.209632720G>CCA344594733LAMB3c.685C>G (p.Gln229Glu)
c.493C>G (p.Gln165Glu)
1g.209632720G>TCA344594732LAMB3c.685C>A (p.Gln229Lys)
c.493C>A (p.Gln165Lys)
1g.209632721G>ACA423032673LAMB3c.684C>T (p.Pro228=)
c.492C>T (p.Pro164=)
1g.209632721G>CCA423032674LAMB3c.684C>G (p.Pro228=)
c.492C>G (p.Pro164=)
1g.209632721G>TCA423032675LAMB3c.684C>A (p.Pro228=)
c.492C>A (p.Pro164=)
1g.209632722G>ACA344594735LAMB3c.683C>T (p.Pro228Leu)
c.491C>T (p.Pro164Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632722G>CCA344594737LAMB3c.683C>G (p.Pro228Arg)
c.491C>G (p.Pro164Arg)
1g.209632722G=CA2484302014LAMB3c.683C= (p.Pro228=)
c.491C= (p.Pro164=)
1g.209632722G>TCA344594736LAMB3c.683C>A (p.Pro228His)
c.491C>A (p.Pro164His)
1g.209632723G>ACA344594738LAMB3c.682C>T (p.Pro228Ser)
c.490C>T (p.Pro164Ser)
 gnomAD v4
1g.209632723G>CCA344594739LAMB3c.682C>G (p.Pro228Ala)
c.490C>G (p.Pro164Ala)
1g.209632723G>TCA344594740LAMB3c.682C>A (p.Pro228Thr)
c.490C>A (p.Pro164Thr)
1g.209632724C>ACA423032676LAMB3c.681G>T (p.Val227=)
c.489G>T (p.Val163=)
1g.209632724C>GCA423032677LAMB3c.681G>C (p.Val227=)
c.489G>C (p.Val163=)
1g.209632724C>TCA423032678LAMB3c.681G>A (p.Val227=)
c.489G>A (p.Val163=)
1g.209632725A>CCA344594741LAMB3c.680T>G (p.Val227Gly)
c.488T>G (p.Val163Gly)
1g.209632725A>GCA344594742LAMB3c.680T>C (p.Val227Ala)
c.488T>C (p.Val163Ala)
1g.209632725A>TCA344594743LAMB3c.680T>A (p.Val227Glu)
c.488T>A (p.Val163Glu)
1g.209632726C>ACA344594744LAMB3c.679G>T (p.Val227Leu)
c.487G>T (p.Val163Leu)
1g.209632726C=CA2484302015LAMB3c.679G= (p.Val227=)
c.487G= (p.Val163=)
1g.209632726C>GCA344594745LAMB3c.679G>C (p.Val227Leu)
c.487G>C (p.Val163Leu)
1g.209632726C>TCA344594746LAMB3c.679G>A (p.Val227Met)
c.487G>A (p.Val163Met)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched