Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.209632727A=CA2484302016LAMB3c.678T= (p.Pro226=)
c.486T= (p.Pro162=)
1g.209632727A>CCA423032679LAMB3c.678T>G (p.Pro226=)
c.486T>G (p.Pro162=)
1g.209632727A>GCA1375873LAMB3c.678T>C (p.Pro226=)
c.486T>C (p.Pro162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632727A>TCA423032680LAMB3c.678T>A (p.Pro226=)
c.486T>A (p.Pro162=)
1g.209632728G>ACA344594747LAMB3c.677C>T (p.Pro226Leu)
c.485C>T (p.Pro162Leu)
 gnomAD v4
1g.209632728G>CCA344594748LAMB3c.677C>G (p.Pro226Arg)
c.485C>G (p.Pro162Arg)
1g.209632728G>TCA344594749LAMB3c.677C>A (p.Pro226His)
c.485C>A (p.Pro162His)
1g.209632729G>ACA344594750LAMB3c.676C>T (p.Pro226Ser)
c.484C>T (p.Pro162Ser)
1g.209632729G>CCA344594752LAMB3c.676C>G (p.Pro226Ala)
c.484C>G (p.Pro162Ala)
1g.209632729G>TCA344594751LAMB3c.676C>A (p.Pro226Thr)
c.484C>A (p.Pro162Thr)
1g.209632730G>ACA423032681LAMB3c.675C>T (p.Ala225=)
c.483C>T (p.Ala161=)
 ClinVar dbSNP
1g.209632730G>CCA423032682LAMB3c.675C>G (p.Ala225=)
c.483C>G (p.Ala161=)
1g.209632730G=CA2484302017LAMB3c.675C= (p.Ala225=)
c.483C= (p.Ala161=)
1g.209632730G>TCA423032683LAMB3c.675C>A (p.Ala225=)
c.483C>A (p.Ala161=)
1g.209632731G>ACA344594753LAMB3c.674C>T (p.Ala225Val)
c.482C>T (p.Ala161Val)
1g.209632731G>CCA344594754LAMB3c.674C>G (p.Ala225Gly)
c.482C>G (p.Ala161Gly)
1g.209632731G>TCA344594755LAMB3c.674C>A (p.Ala225Asp)
c.482C>A (p.Ala161Asp)
1g.209632731_209632732delinsGCCA2484302018LAMB3c.673_674delinsGC (p.Ala225=)
c.481_482delinsGC (p.Ala161=)
1g.209632732C>ACA344594756LAMB3c.673G>T (p.Ala225Ser)
c.481G>T (p.Ala161Ser)
1g.209632732C>GCA344594757LAMB3c.673G>C (p.Ala225Pro)
c.481G>C (p.Ala161Pro)
1g.209632732C>TCA344594758LAMB3c.673G>A (p.Ala225Thr)
c.481G>A (p.Ala161Thr)
 gnomAD v4
1g.209632733delCA529000339LAMB3c.673del (p.Ala225ProfsTer?)
c.481del (p.Ala161ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.209632733C>ACA1375874LAMB3c.672G>T (p.Leu224=)
c.480G>T (p.Leu160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632733C=CA1148483919LAMB3c.672G= (p.Leu224=)
c.480G= (p.Leu160=)
1g.209632733C>GCA423032685LAMB3c.672G>C (p.Leu224=)
c.480G>C (p.Leu160=)
1g.209632733C>TCA423032684LAMB3c.672G>A (p.Leu224=)
c.480G>A (p.Leu160=)
 ClinVar
1g.209632734A=CA1141651618LAMB3c.671T= (p.Leu224=)
c.479T= (p.Leu160=)
1g.209632734A>CCA344594759LAMB3c.671T>G (p.Leu224Arg)
c.479T>G (p.Leu160Arg)
1g.209632734A>GCA1375875LAMB3c.671T>C (p.Leu224Pro)
c.479T>C (p.Leu160Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632734A>TCA344594760LAMB3c.671T>A (p.Leu224Gln)
c.479T>A (p.Leu160Gln)
1g.209632735G>ACA423032686LAMB3c.670C>T (p.Leu224=)
c.478C>T (p.Leu160=)
1g.209632735G>CCA344594762LAMB3c.670C>G (p.Leu224Val)
c.478C>G (p.Leu160Val)
1g.209632735G>TCA344594761LAMB3c.670C>A (p.Leu224Met)
c.478C>A (p.Leu160Met)
 COSMIC
1g.209632735_209632737delCA2650322168LAMB3c.668_670del (p.Arg223_Leu224delinsMet)
c.476_478del (p.Arg159_Leu160delinsMet)
 gnomAD v4
1g.209632736C>ACA344594763LAMB3c.669G>T (p.Arg223Ser)
c.477G>T (p.Arg159Ser)
1g.209632736C=CA1143404190LAMB3c.669G= (p.Arg223=)
c.477G= (p.Arg159=)
1g.209632736C>GCA344594764LAMB3c.669G>C (p.Arg223Ser)
c.477G>C (p.Arg159Ser)
1g.209632736C>TCA1375876LAMB3c.669G>A (p.Arg223=)
c.477G>A (p.Arg159=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632737C>ACA344594765LAMB3c.668G>T (p.Arg223Met)
c.476G>T (p.Arg159Met)
1g.209632737C>GCA344594766LAMB3c.668G>C (p.Arg223Thr)
c.476G>C (p.Arg159Thr)
1g.209632737C>TCA344594767LAMB3c.668G>A (p.Arg223Lys)
c.476G>A (p.Arg159Lys)
 gnomAD v4
1g.209632738delCA2573131527LAMB3c.667del (p.Arg223GlyfsTer?)
c.475del (p.Arg159GlyfsTer?)
 ClinVar dbSNP
1g.209632738T>ACA344594768LAMB3c.667A>T (p.Arg223Trp)
c.475A>T (p.Arg159Trp)
1g.209632738T>CCA344594769LAMB3c.667A>G (p.Arg223Gly)
c.475A>G (p.Arg159Gly)
1g.209632738T>GCA423032687LAMB3c.667A>C (p.Arg223=)
c.475A>C (p.Arg159=)
1g.209632739G>ACA1375877LAMB3c.666C>T (p.Thr222=)
c.474C>T (p.Thr158=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632739G>CCA423032689LAMB3c.666C>G (p.Thr222=)
c.474C>G (p.Thr158=)
1g.209632739G=CA1148427641LAMB3c.666C= (p.Thr222=)
c.474C= (p.Thr158=)
1g.209632739G>TCA423032688LAMB3c.666C>A (p.Thr222=)
c.474C>A (p.Thr158=)
1g.209632740G>ACA344594770LAMB3c.665C>T (p.Thr222Ile)
c.473C>T (p.Thr158Ile)
 gnomAD v4
1g.209632740G>CCA344594771LAMB3c.665C>G (p.Thr222Ser)
c.473C>G (p.Thr158Ser)
1g.209632740G>TCA344594772LAMB3c.665C>A (p.Thr222Asn)
c.473C>A (p.Thr158Asn)
1g.209632741T>ACA344594774LAMB3c.664A>T (p.Thr222Ser)
c.472A>T (p.Thr158Ser)
 gnomAD v4
1g.209632741T>CCA344594775LAMB3c.664A>G (p.Thr222Ala)
c.472A>G (p.Thr158Ala)
1g.209632741T>GCA344594773LAMB3c.664A>C (p.Thr222Pro)
c.472A>C (p.Thr158Pro)
1g.209632742G>ACA423032690LAMB3c.663C>T (p.Phe221=)
c.471C>T (p.Phe157=)
1g.209632742G>CCA344594776LAMB3c.663C>G (p.Phe221Leu)
c.471C>G (p.Phe157Leu)
1g.209632742G>TCA344594777LAMB3c.663C>A (p.Phe221Leu)
c.471C>A (p.Phe157Leu)
1g.209632743A>CCA344594778LAMB3c.662T>G (p.Phe221Cys)
c.470T>G (p.Phe157Cys)
1g.209632743A>GCA344594779LAMB3c.662T>C (p.Phe221Ser)
c.470T>C (p.Phe157Ser)
1g.209632743A>TCA344594780LAMB3c.662T>A (p.Phe221Tyr)
c.470T>A (p.Phe157Tyr)
1g.209632744A>CCA344594783LAMB3c.661T>G (p.Phe221Val)
c.469T>G (p.Phe157Val)
1g.209632744A>GCA344594781LAMB3c.661T>C (p.Phe221Leu)
c.469T>C (p.Phe157Leu)
1g.209632744A>TCA344594782LAMB3c.661T>A (p.Phe221Ile)
c.469T>A (p.Phe157Ile)
1g.209632745A>CCA344594784LAMB3c.660T>G (p.Asn220Lys)
c.468T>G (p.Asn156Lys)
1g.209632745A>GCA423032691LAMB3c.660T>C (p.Asn220=)
c.468T>C (p.Asn156=)
1g.209632745A>TCA344594785LAMB3c.660T>A (p.Asn220Lys)
c.468T>A (p.Asn156Lys)
1g.209632746T>ACA344594786LAMB3c.659A>T (p.Asn220Ile)
c.467A>T (p.Asn156Ile)
1g.209632746T>CCA344594787LAMB3c.659A>G (p.Asn220Ser)
c.467A>G (p.Asn156Ser)
 gnomAD v4
1g.209632746T>GCA344594788LAMB3c.659A>C (p.Asn220Thr)
c.467A>C (p.Asn156Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.209632746T=CA2484302019LAMB3c.659A= (p.Asn220=)
c.467A= (p.Asn156=)
1g.209632747T>ACA344594791LAMB3c.658A>T (p.Asn220Tyr)
c.466A>T (p.Asn156Tyr)
1g.209632747T>CCA344594790LAMB3c.658A>G (p.Asn220Asp)
c.466A>G (p.Asn156Asp)
1g.209632747T>GCA344594789LAMB3c.658A>C (p.Asn220His)
c.466A>C (p.Asn156His)
1g.209632748G>ACA423032692LAMB3c.657C>T (p.Val219=)
c.465C>T (p.Val155=)
1g.209632748G>CCA423032693LAMB3c.657C>G (p.Val219=)
c.465C>G (p.Val155=)
1g.209632748G>TCA423032694LAMB3c.657C>A (p.Val219=)
c.465C>A (p.Val155=)
1g.209632749A>CCA344594792LAMB3c.656T>G (p.Val219Gly)
c.464T>G (p.Val155Gly)
1g.209632749A>GCA344594793LAMB3c.656T>C (p.Val219Ala)
c.464T>C (p.Val155Ala)
1g.209632749A>TCA344594794LAMB3c.656T>A (p.Val219Asp)
c.464T>A (p.Val155Asp)
1g.209632749_209632750delinsACCA2484302020LAMB3c.655_656delinsGT (p.Val219=)
c.463_464delinsGT (p.Val155=)
1g.209632749_209632750delinsGACA2484302021LAMB3c.655_656delinsTC (p.Val219Ser)
c.463_464delinsTC (p.Val155Ser)
 ClinVar dbSNP
1g.209632750C>ACA344594795LAMB3c.655G>T (p.Val219Phe)
c.463G>T (p.Val155Phe)
1g.209632750C=CA2484302022LAMB3c.655G= (p.Val219=)
c.463G= (p.Val155=)
1g.209632750C>GCA344594796LAMB3c.655G>C (p.Val219Leu)
c.463G>C (p.Val155Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.209632750C>TCA344594797LAMB3c.655G>A (p.Val219Ile)
c.463G>A (p.Val155Ile)
1g.209632751T>ACA344594798LAMB3c.654A>T (p.Arg218Ser)
c.462A>T (p.Arg154Ser)
1g.209632751T>CCA423032695LAMB3c.654A>G (p.Arg218=)
c.462A>G (p.Arg154=)
1g.209632751T>GCA344594799LAMB3c.654A>C (p.Arg218Ser)
c.462A>C (p.Arg154Ser)
1g.209632752C>ACA344594800LAMB3c.653G>T (p.Arg218Ile)
c.461G>T (p.Arg154Ile)
 gnomAD v4
1g.209632752C=CA2484302023LAMB3c.653G= (p.Arg218=)
c.461G= (p.Arg154=)
1g.209632752C>GCA1375878LAMB3c.653G>C (p.Arg218Thr)
c.461G>C (p.Arg154Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632752C>TCA1375879LAMB3c.653G>A (p.Arg218Lys)
c.461G>A (p.Arg154Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632753T>ACA344594801LAMB3c.652A>T (p.Arg218Ter)
c.460A>T (p.Arg154Ter)
1g.209632753T>CCA344594802LAMB3c.652A>G (p.Arg218Gly)
c.460A>G (p.Arg154Gly)
1g.209632753T>GCA423032696LAMB3c.652A>C (p.Arg218=)
c.460A>C (p.Arg154=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209632753T=CA2484302024LAMB3c.652A= (p.Arg218=)
c.460A= (p.Arg154=)
1g.209632754C>ACA1375880LAMB3c.651G>T (p.Leu217Phe)
c.459G>T (p.Leu153Phe)
 dbSNP ExAC gnomAD v2
1g.209632754C=CA1143663700LAMB3c.651G= (p.Leu217=)
c.459G= (p.Leu153=)
1g.209632754C>GCA344594803LAMB3c.651G>C (p.Leu217Phe)
c.459G>C (p.Leu153Phe)
1g.209632754C>TCA423032697LAMB3c.651G>A (p.Leu217=)
c.459G>A (p.Leu153=)
 gnomAD v4
1g.209632755A=CA2484302025LAMB3c.650T= (p.Leu217=)
c.458T= (p.Leu153=)
1g.209632755A>CCA344594805LAMB3c.650T>G (p.Leu217Trp)
c.458T>G (p.Leu153Trp)
 gnomAD v4
1g.209632755A>GCA1375881LAMB3c.650T>C (p.Leu217Ser)
c.458T>C (p.Leu153Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632755A>TCA344594804LAMB3c.650T>A (p.Leu217Ter)
c.458T>A (p.Leu153Ter)
1g.209632756A=CA2484302026LAMB3c.649T= (p.Leu217=)
c.457T= (p.Leu153=)
1g.209632756A>CCA344594806LAMB3c.649T>G (p.Leu217Val)
c.457T>G (p.Leu153Val)
1g.209632756A>GCA423032698LAMB3c.649T>C (p.Leu217=)
c.457T>C (p.Leu153=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632756A>TCA344594807LAMB3c.649T>A (p.Leu217Met)
c.457T>A (p.Leu153Met)
1g.209632757G>ACA423032699LAMB3c.648C>T (p.Asn216=)
c.456C>T (p.Asn152=)
1g.209632757G>CCA344594808LAMB3c.648C>G (p.Asn216Lys)
c.456C>G (p.Asn152Lys)
1g.209632757G>TCA344594809LAMB3c.648C>A (p.Asn216Lys)
c.456C>A (p.Asn152Lys)
1g.209632758T>ACA344594810LAMB3c.647A>T (p.Asn216Ile)
c.455A>T (p.Asn152Ile)
1g.209632758T>CCA344594811LAMB3c.647A>G (p.Asn216Ser)
c.455A>G (p.Asn152Ser)
1g.209632758T>GCA344594812LAMB3c.647A>C (p.Asn216Thr)
c.455A>C (p.Asn152Thr)
1g.209632760delCA2586967989LAMB3c.647del (p.Asn216ThrfsTer2)
c.455del (p.Asn152ThrfsTer2)
1g.209632759T>ACA344594813LAMB3c.646A>T (p.Asn216Tyr)
c.454A>T (p.Asn152Tyr)
1g.209632759T>CCA344594814LAMB3c.646A>G (p.Asn216Asp)
c.454A>G (p.Asn152Asp)
 gnomAD v4
1g.209632759T>GCA344594815LAMB3c.646A>C (p.Asn216His)
c.454A>C (p.Asn152His)
1g.209632760T>ACA423032700LAMB3c.645A>T (p.Thr215=)
c.453A>T (p.Thr151=)
1g.209632760T>CCA423032702LAMB3c.645A>G (p.Thr215=)
c.453A>G (p.Thr151=)
1g.209632760T>GCA423032701LAMB3c.645A>C (p.Thr215=)
c.453A>C (p.Thr151=)
1g.209632761G>ACA344594816LAMB3c.644C>T (p.Thr215Ile)
c.452C>T (p.Thr151Ile)
 dbSNP gnomAD v4
1g.209632761G>CCA344594817LAMB3c.644C>G (p.Thr215Arg)
c.452C>G (p.Thr151Arg)
1g.209632761G=CA2484302027LAMB3c.644C= (p.Thr215=)
c.452C= (p.Thr151=)
1g.209632761G>TCA344594818LAMB3c.644C>A (p.Thr215Lys)
c.452C>A (p.Thr151Lys)
1g.209632761_209632762delinsGTCA2484302028LAMB3c.643_644delinsAC (p.Thr215=)
c.451_452delinsAC (p.Thr151=)
1g.209632762delCA2484302029LAMB3c.643del (p.Thr215GlnfsTer3)
c.451del (p.Thr151GlnfsTer3)
 dbSNP gnomAD v4
1g.209632762T>ACA344594819LAMB3c.643A>T (p.Thr215Ser)
c.451A>T (p.Thr151Ser)
1g.209632762T>CCA344594821LAMB3c.643A>G (p.Thr215Ala)
c.451A>G (p.Thr151Ala)
1g.209632762T>GCA344594820LAMB3c.643A>C (p.Thr215Pro)
c.451A>C (p.Thr151Pro)
1g.209632763G>ACA1375882LAMB3c.642C>T (p.Ile214=)
c.450C>T (p.Ile150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632763G>CCA344594822LAMB3c.642C>G (p.Ile214Met)
c.450C>G (p.Ile150Met)
1g.209632763G=CA2484302030LAMB3c.642C= (p.Ile214=)
c.450C= (p.Ile150=)
1g.209632763G>TCA423032703LAMB3c.642C>A (p.Ile214=)
c.450C>A (p.Ile150=)
1g.209632764A=CA1143887063LAMB3c.641T= (p.Ile214=)
c.449T= (p.Ile150=)
1g.209632764A>CCA344594823LAMB3c.641T>G (p.Ile214Ser)
c.449T>G (p.Ile150Ser)
1g.209632764A>GCA1375883LAMB3c.641T>C (p.Ile214Thr)
c.449T>C (p.Ile150Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632764A>TCA344594824LAMB3c.641T>A (p.Ile214Asn)
c.449T>A (p.Ile150Asn)
1g.209632765T>ACA344594825LAMB3c.640A>T (p.Ile214Phe)
c.448A>T (p.Ile150Phe)
1g.209632765T>CCA344594826LAMB3c.640A>G (p.Ile214Val)
c.448A>G (p.Ile150Val)
 dbSNP gnomAD v4
1g.209632765T>GCA344594827LAMB3c.640A>C (p.Ile214Leu)
c.448A>C (p.Ile150Leu)
1g.209632765T=CA2484302031LAMB3c.640A= (p.Ile214=)
c.448A= (p.Ile150=)
1g.209632766C>ACA344594828LAMB3c.639G>T (p.Glu213Asp)
c.447G>T (p.Glu149Asp)
1g.209632766C=CA2484302032LAMB3c.639G= (p.Glu213=)
c.447G= (p.Glu149=)
1g.209632766C>GCA344594829LAMB3c.639G>C (p.Glu213Asp)
c.447G>C (p.Glu149Asp)
1g.209632766C>TCA423032704LAMB3c.639G>A (p.Glu213=)
c.447G>A (p.Glu149=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209632767T>ACA344594830LAMB3c.638A>T (p.Glu213Val)
c.446A>T (p.Glu149Val)
1g.209632767T>CCA344594831LAMB3c.638A>G (p.Glu213Gly)
c.446A>G (p.Glu149Gly)
1g.209632767T>GCA344594832LAMB3c.638A>C (p.Glu213Ala)
c.446A>C (p.Glu149Ala)
1g.209632768C>ACA344594835LAMB3c.637G>T (p.Glu213Ter)
c.445G>T (p.Glu149Ter)
1g.209632768C>GCA344594833LAMB3c.637G>C (p.Glu213Gln)
c.445G>C (p.Glu149Gln)
1g.209632768C>TCA344594834LAMB3c.637G>A (p.Glu213Lys)
c.445G>A (p.Glu149Lys)
 gnomAD v4
1g.209632772delCA2574124566LAMB3c.637del (p.Glu213ArgfsTer5)
c.445del (p.Glu149ArgfsTer5)
1g.209632769C>ACA423032710LAMB3c.636G>T (p.Gly212=)
c.444G>T (p.Gly148=)
1g.209632769C>GCA423032711LAMB3c.636G>C (p.Gly212=)
c.444G>C (p.Gly148=)
1g.209632769C>TCA423032712LAMB3c.636G>A (p.Gly212=)
c.444G>A (p.Gly148=)
 ClinVar dbSNP gnomAD v4
1g.209632770C>ACA344594836LAMB3c.635G>T (p.Gly212Val)
c.443G>T (p.Gly148Val)
1g.209632770C=CA2484302033LAMB3c.635G= (p.Gly212=)
c.443G= (p.Gly148=)
1g.209632770C>GCA1375884LAMB3c.635G>C (p.Gly212Ala)
c.443G>C (p.Gly148Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632770C>TCA344594837LAMB3c.635G>A (p.Gly212Glu)
c.443G>A (p.Gly148Glu)
 gnomAD v4
1g.209632771C>ACA344594838LAMB3c.634G>T (p.Gly212Trp)
c.442G>T (p.Gly148Trp)
1g.209632771C=CA2484302034LAMB3c.634G= (p.Gly212=)
c.442G= (p.Gly148=)
1g.209632771C>GCA344594839LAMB3c.634G>C (p.Gly212Arg)
c.442G>C (p.Gly148Arg)
 gnomAD v4
1g.209632771C>TCA344594840LAMB3c.634G>A (p.Gly212Arg)
c.442G>A (p.Gly148Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.209632772C>ACA423032713LAMB3c.633G>T (p.Val211=)
c.441G>T (p.Val147=)
 ClinVar dbSNP gnomAD v4
1g.209632772C=CA2484302035LAMB3c.633G= (p.Val211=)
c.441G= (p.Val147=)
1g.209632772C>GCA423032714LAMB3c.633G>C (p.Val211=)
c.441G>C (p.Val147=)
 gnomAD v4
1g.209632772C>TCA423032715LAMB3c.633G>A (p.Val211=)
c.441G>A (p.Val147=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209632773A>CCA344594841LAMB3c.632T>G (p.Val211Gly)
c.440T>G (p.Val147Gly)
 gnomAD v4
1g.209632773A>GCA344594842LAMB3c.632T>C (p.Val211Ala)
c.440T>C (p.Val147Ala)
1g.209632773A>TCA344594843LAMB3c.632T>A (p.Val211Glu)
c.440T>A (p.Val147Glu)
1g.209632774C>ACA344594844LAMB3c.631G>T (p.Val211Leu)
c.439G>T (p.Val147Leu)
1g.209632774C>GCA344594845LAMB3c.631G>C (p.Val211Leu)
c.439G>C (p.Val147Leu)
 dbSNP
1g.209632774C>TCA344594846LAMB3c.631G>A (p.Val211Met)
c.439G>A (p.Val147Met)
1g.209632775C>ACA344594848LAMB3c.630G>T (p.Glu210Asp)
c.438G>T (p.Glu146Asp)
 dbSNP gnomAD v4
1g.209632775C=CA2484302036LAMB3c.630G= (p.Glu210=)
c.438G= (p.Glu146=)
1g.209632775C>GCA344594847LAMB3c.630G>C (p.Glu210Asp)
c.438G>C (p.Glu146Asp)
1g.209632775C>TCA1375885LAMB3c.630G>A (p.Glu210=)
c.438G>A (p.Glu146=)
 dbSNP ExAC gnomAD v2
1g.209632776T>ACA344594849LAMB3c.629A>T (p.Glu210Val)
c.437A>T (p.Glu146Val)
1g.209632776T>CCA1375886LAMB3c.629A>G (p.Glu210Gly)
c.437A>G (p.Glu146Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632776T>GCA344594850LAMB3c.629A>C (p.Glu210Ala)
c.437A>C (p.Glu146Ala)
1g.209632776T=CA2484302037LAMB3c.629A= (p.Glu210=)
c.437A= (p.Glu146=)
1g.209632777C>ACA344594851LAMB3c.629-1G>T (n.629-1G>T)
c.437-1G>T (n.437-1G>T)
1g.209632777C=CA1148224946LAMB3c.629-1G= (n.629-1G=)
c.437-1G= (n.437-1G=)
1g.209632777C>GCA344594852LAMB3c.629-1G>C (n.629-1G>C)
c.437-1G>C (n.437-1G>C)
1g.209632777C>TCA257288LAMB3c.629-1G>A (n.629-1G>A)
c.437-1G>A (n.437-1G>A)
 ClinVar dbSNP gnomAD v4
1g.209632778T>ACA344594853LAMB3c.629-2A>T (n.629-2A>T)
c.437-2A>T (n.437-2A>T)
1g.209632778T>CCA344594854LAMB3c.629-2A>G (n.629-2A>G)
c.437-2A>G (n.437-2A>G)
1g.209632778T>GCA344594855LAMB3c.629-2A>C (n.629-2A>C)
c.437-2A>C (n.437-2A>C)
1g.209632780A>GCA2650322169LAMB3c.629-4T>C (n.629-4T>C)
c.437-4T>C (n.437-4T>C)
 gnomAD v4
1g.209632781G>CCA1375887LAMB3c.629-5C>G (n.629-5C>G)
c.437-5C>G (n.437-5C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632781G=CA1144087702LAMB3c.629-5C= (n.629-5C=)
c.437-5C= (n.437-5C=)
1g.209632781G>TCA2650322170LAMB3c.629-5C>A (n.629-5C>A)
c.437-5C>A (n.437-5C>A)
 ClinVar gnomAD v4
1g.209632784G>ACA2650322171LAMB3c.629-8C>T (n.629-8C>T)
c.437-8C>T (n.437-8C>T)
 gnomAD v4
1g.209632785G>ACA36759770LAMB3c.629-9C>T (n.629-9C>T)
c.437-9C>T (n.437-9C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632785G=CA2484302038LAMB3c.629-9C= (n.629-9C=)
c.437-9C= (n.437-9C=)
1g.209632785G>TCA2650322172LAMB3c.629-9C>A (n.629-9C>A)
c.437-9C>A (n.437-9C>A)
 gnomAD v4
1g.209632786C>ACA528652928LAMB3c.629-10G>T (n.629-10G>T)
c.437-10G>T (n.437-10G>T)
 ClinVar dbSNP gnomAD v2
1g.209632786C=CA2484302039LAMB3c.629-10G= (n.629-10G=)
c.437-10G= (n.437-10G=)
1g.209632787C>ACA2484302041LAMB3c.629-11G>T (n.629-11G>T)
c.437-11G>T (n.437-11G>T)
 ClinVar dbSNP gnomAD v4
1g.209632787C=CA2484302040LAMB3c.629-11G= (n.629-11G=)
c.437-11G= (n.437-11G=)
1g.209632787C>GCA2650322173LAMB3c.629-11G>C (n.629-11G>C)
c.437-11G>C (n.437-11G>C)
 gnomAD v4
1g.209632788A=CA2484302042LAMB3c.629-12T= (n.629-12T=)
c.437-12T= (n.437-12T=)
1g.209632788A>TCA1375888LAMB3c.629-12T>A (n.629-12T>A)
c.437-12T>A (n.437-12T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632791C>GCA2650322174LAMB3c.629-15G>C (n.629-15G>C)
c.437-15G>C (n.437-15G>C)
 gnomAD v4
1g.209632793G>ACA730835697LAMB3c.629-17C>T (n.629-17C>T)
c.437-17C>T (n.437-17C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.209632793G=CA2484302043LAMB3c.629-17C= (n.629-17C=)
c.437-17C= (n.437-17C=)
1g.209632796A>CCA2650322175LAMB3c.629-20T>G (n.629-20T>G)
c.437-20T>G (n.437-20T>G)
 gnomAD v4
1g.209632797G>ACA36759774LAMB3c.629-21C>T (n.629-21C>T)
c.437-21C>T (n.437-21C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632797G=CA2484302044LAMB3c.629-21C= (n.629-21C=)
c.437-21C= (n.437-21C=)
1g.209632798G>ACA730835700LAMB3c.629-22C>T (n.629-22C>T)
c.437-22C>T (n.437-22C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.209632798G=CA2484302045LAMB3c.629-22C= (n.629-22C=)
c.437-22C= (n.437-22C=)
1g.209632799A=CA2484302046LAMB3c.629-23T= (n.629-23T=)
c.437-23T= (n.437-23T=)
1g.209632799A>GCA528652929LAMB3c.629-23T>C (n.629-23T>C)
c.437-23T>C (n.437-23T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632800G>ACA2484302048LAMB3c.629-24C>T (n.629-24C>T)
c.437-24C>T (n.437-24C>T)
 dbSNP
1g.209632800G>CCA1375889LAMB3c.629-24C>G (n.629-24C>G)
c.437-24C>G (n.437-24C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632800G=CA2484302047LAMB3c.629-24C= (n.629-24C=)
c.437-24C= (n.437-24C=)
1g.209632801G>ACA2574124567LAMB3c.629-25C>T (n.629-25C>T)
c.437-25C>T (n.437-25C>T)
 gnomAD v4
1g.209632802G>ACA1375890LAMB3c.629-26C>T (n.629-26C>T)
c.437-26C>T (n.437-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632802G=CA2484302049LAMB3c.629-26C= (n.629-26C=)
c.437-26C= (n.437-26C=)
1g.209632802G>TCA2650322176LAMB3c.629-26C>A (n.629-26C>A)
c.437-26C>A (n.437-26C>A)
 gnomAD v4
1g.209632803A=CA2484302050LAMB3c.629-27T= (n.629-27T=)
c.437-27T= (n.437-27T=)
1g.209632803A>GCA1011769567LAMB3c.629-27T>C (n.629-27T>C)
c.437-27T>C (n.437-27T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.209632805G>TCA2574124568LAMB3c.629-29C>A (n.629-29C>A)
c.437-29C>A (n.437-29C>A)
 gnomAD v4

Number of alleles fetched