Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209630664G>ACA423032438LAMB3c.894C>T (p.Asn298=)
c.702C>T (p.Asn234=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630664G>CCA344593523LAMB3c.894C>G (p.Asn298Lys)
c.702C>G (p.Asn234Lys)
1g.209630664G=CA2484301194LAMB3c.894C= (p.Asn298=)
c.702C= (p.Asn234=)
1g.209630664G>TCA344593526LAMB3c.894C>A (p.Asn298Lys)
c.702C>A (p.Asn234Lys)
1g.209630665T>ACA344593529LAMB3c.893A>T (p.Asn298Ile)
c.701A>T (p.Asn234Ile)
1g.209630665T>CCA1375792LAMB3c.893A>G (p.Asn298Ser)
c.701A>G (p.Asn234Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630665T>GCA344593534LAMB3c.893A>C (p.Asn298Thr)
c.701A>C (p.Asn234Thr)
1g.209630665T=CA2484301195LAMB3c.893A= (p.Asn298=)
c.701A= (p.Asn234=)
1g.209630666T>ACA344593542LAMB3c.892A>T (p.Asn298Tyr)
c.700A>T (p.Asn234Tyr)
1g.209630666T>CCA344593540LAMB3c.892A>G (p.Asn298Asp)
c.700A>G (p.Asn234Asp)
1g.209630666T>GCA344593538LAMB3c.892A>C (p.Asn298His)
c.700A>C (p.Asn234His)
1g.209630667G>ACA1375793LAMB3c.891C>T (p.Tyr297=)
c.699C>T (p.Tyr233=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630667G>CCA344593548LAMB3c.891C>G (p.Tyr297Ter)
c.699C>G (p.Tyr233Ter)
 ClinVar
1g.209630667G=CA1143797254LAMB3c.891C= (p.Tyr297=)
c.699C= (p.Tyr233=)
1g.209630667G>TCA344593551LAMB3c.891C>A (p.Tyr297Ter)
c.699C>A (p.Tyr233Ter)
1g.209630668_209630670delCA2650323780LAMB3c.889_891del (p.Tyr297del)
c.697_699del (p.Tyr233del)
 gnomAD v4
1g.209630668T>ACA344593558LAMB3c.890A>T (p.Tyr297Phe)
c.698A>T (p.Tyr233Phe)
1g.209630668T>CCA344593560LAMB3c.890A>G (p.Tyr297Cys)
c.698A>G (p.Tyr233Cys)
 gnomAD v4
1g.209630668T>GCA344593563LAMB3c.890A>C (p.Tyr297Ser)
c.698A>C (p.Tyr233Ser)
 COSMIC
1g.209630669A>CCA344593567LAMB3c.889T>G (p.Tyr297Asp)
c.697T>G (p.Tyr233Asp)
1g.209630669A>GCA344593569LAMB3c.889T>C (p.Tyr297His)
c.697T>C (p.Tyr233His)
1g.209630669A>TCA344593571LAMB3c.889T>A (p.Tyr297Asn)
c.697T>A (p.Tyr233Asn)
1g.209630670G>ACA423032439LAMB3c.888C>T (p.Phe296=)
c.696C>T (p.Phe232=)
1g.209630670G>CCA344593575LAMB3c.888C>G (p.Phe296Leu)
c.696C>G (p.Phe232Leu)
1g.209630670G=CA2484301196LAMB3c.888C= (p.Phe296=)
c.696C= (p.Phe232=)
1g.209630670G>TCA344593576LAMB3c.888C>A (p.Phe296Leu)
c.696C>A (p.Phe232Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.209630671A>CCA344593579LAMB3c.887T>G (p.Phe296Cys)
c.695T>G (p.Phe232Cys)
1g.209630671A>GCA344593581LAMB3c.887T>C (p.Phe296Ser)
c.695T>C (p.Phe232Ser)
1g.209630671A>TCA344593583LAMB3c.887T>A (p.Phe296Tyr)
c.695T>A (p.Phe232Tyr)
1g.209630672A=CA2484301197LAMB3c.886T= (p.Phe296=)
c.694T= (p.Phe232=)
1g.209630672A>CCA344593588LAMB3c.886T>G (p.Phe296Val)
c.694T>G (p.Phe232Val)
 dbSNP gnomAD v2 gnomAD v4
1g.209630672A>GCA344593590LAMB3c.886T>C (p.Phe296Leu)
c.694T>C (p.Phe232Leu)
1g.209630672A>TCA344593585LAMB3c.886T>A (p.Phe296Ile)
c.694T>A (p.Phe232Ile)
1g.209630673G>ACA423032440LAMB3c.885C>T (p.Pro295=)
c.693C>T (p.Pro231=)
 dbSNP gnomAD v3 gnomAD v4
1g.209630673G>CCA423032441LAMB3c.885C>G (p.Pro295=)
c.693C>G (p.Pro231=)
1g.209630673G=CA2484301198LAMB3c.885C= (p.Pro295=)
c.693C= (p.Pro231=)
1g.209630673G>TCA423032442LAMB3c.885C>A (p.Pro295=)
c.693C>A (p.Pro231=)
1g.209630674G>ACA344593593LAMB3c.884C>T (p.Pro295Leu)
c.692C>T (p.Pro231Leu)
 gnomAD v4 COSMIC
1g.209630674G>CCA344593595LAMB3c.884C>G (p.Pro295Arg)
c.692C>G (p.Pro231Arg)
1g.209630674G>TCA344593597LAMB3c.884C>A (p.Pro295His)
c.692C>A (p.Pro231His)
 gnomAD v4
1g.209630675G>ACA1375794LAMB3c.883C>T (p.Pro295Ser)
c.691C>T (p.Pro231Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630675G>CCA344593602LAMB3c.883C>G (p.Pro295Ala)
c.691C>G (p.Pro231Ala)
 dbSNP
1g.209630675G=CA1148453207LAMB3c.883C= (p.Pro295=)
c.691C= (p.Pro231=)
1g.209630675G>TCA344593605LAMB3c.883C>A (p.Pro295Thr)
c.691C>A (p.Pro231Thr)
1g.209630676T>ACA423032443LAMB3c.882A>T (p.Ala294=)
c.690A>T (p.Ala230=)
1g.209630676T>CCA423032444LAMB3c.882A>G (p.Ala294=)
c.690A>G (p.Ala230=)
1g.209630676T>GCA423032445LAMB3c.882A>C (p.Ala294=)
c.690A>C (p.Ala230=)
 dbSNP
1g.209630676T=CA2484301199LAMB3c.882A= (p.Ala294=)
c.690A= (p.Ala230=)
1g.209630677G>ACA344593608LAMB3c.881C>T (p.Ala294Val)
c.689C>T (p.Ala230Val)
1g.209630677G>CCA344593610LAMB3c.881C>G (p.Ala294Gly)
c.689C>G (p.Ala230Gly)
1g.209630677G>TCA344593611LAMB3c.881C>A (p.Ala294Glu)
c.689C>A (p.Ala230Glu)
1g.209630678C>ACA344593614LAMB3c.880G>T (p.Ala294Ser)
c.688G>T (p.Ala230Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.209630678C=CA2484301200LAMB3c.880G= (p.Ala294=)
c.688G= (p.Ala230=)
1g.209630678C>GCA344593617LAMB3c.880G>C (p.Ala294Pro)
c.688G>C (p.Ala230Pro)
1g.209630678C>TCA1375795LAMB3c.880G>A (p.Ala294Thr)
c.688G>A (p.Ala230Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630679A=CA2484301201LAMB3c.879T= (p.Cys293=)
c.687T= (p.Cys229=)
1g.209630679A>CCA1375796LAMB3c.879T>G (p.Cys293Trp)
c.687T>G (p.Cys229Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630679A>GCA423032446LAMB3c.879T>C (p.Cys293=)
c.687T>C (p.Cys229=)
1g.209630679A>TCA344593621LAMB3c.879T>A (p.Cys293Ter)
c.687T>A (p.Cys229Ter)
1g.209630680C>ACA344593624LAMB3c.878G>T (p.Cys293Phe)
c.686G>T (p.Cys229Phe)
1g.209630680C>GCA344593626LAMB3c.878G>C (p.Cys293Ser)
c.686G>C (p.Cys229Ser)
1g.209630680C>TCA344593629LAMB3c.878G>A (p.Cys293Tyr)
c.686G>A (p.Cys229Tyr)
1g.209630681A=CA2484301202LAMB3c.877T= (p.Cys293=)
c.685T= (p.Cys229=)
1g.209630681A>CCA344593632LAMB3c.877T>G (p.Cys293Gly)
c.685T>G (p.Cys229Gly)
1g.209630681A>GCA344593634LAMB3c.877T>C (p.Cys293Arg)
c.685T>C (p.Cys229Arg)
1g.209630681A>TCA1375797LAMB3c.877T>A (p.Cys293Ser)
c.685T>A (p.Cys229Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630682G>ACA10609003LAMB3c.876C>T (p.Arg292=)
c.684C>T (p.Arg228=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209630682G>CCA423032448LAMB3c.876C>G (p.Arg292=)
c.684C>G (p.Arg228=)
1g.209630682G=CA2484301203LAMB3c.876C= (p.Arg292=)
c.684C= (p.Arg228=)
1g.209630682G>TCA423032447LAMB3c.876C>A (p.Arg292=)
c.684C>A (p.Arg228=)
1g.209630683C>ACA1375798LAMB3c.875G>T (p.Arg292Leu)
c.683G>T (p.Arg228Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630683C=CA1140353295LAMB3c.875G= (p.Arg292=)
c.683G= (p.Arg228=)
1g.209630683C>GCA344593641LAMB3c.875G>C (p.Arg292Pro)
c.683G>C (p.Arg228Pro)
1g.209630683C>TCA1375799LAMB3c.875G>A (p.Arg292His)
c.683G>A (p.Arg228His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630684G>ACA1375800LAMB3c.874C>T (p.Arg292Cys)
c.682C>T (p.Arg228Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209630684G>CCA344593647LAMB3c.874C>G (p.Arg292Gly)
c.682C>G (p.Arg228Gly)
1g.209630684G=CA2484301204LAMB3c.874C= (p.Arg292=)
c.682C= (p.Arg228=)
1g.209630684G>TCA344593649LAMB3c.874C>A (p.Arg292Ser)
c.682C>A (p.Arg228Ser)
1g.209630685C>ACA344593652LAMB3c.873G>T (p.Glu291Asp)
c.681G>T (p.Glu227Asp)
1g.209630685C>GCA344593654LAMB3c.873G>C (p.Glu291Asp)
c.681G>C (p.Glu227Asp)
1g.209630685C>TCA423032449LAMB3c.873G>A (p.Glu291=)
c.681G>A (p.Glu227=)
 ClinVar dbSNP gnomAD v4
1g.209630686T>ACA344593657LAMB3c.872A>T (p.Glu291Val)
c.680A>T (p.Glu227Val)
 dbSNP
1g.209630686T>CCA344593662LAMB3c.872A>G (p.Glu291Gly)
c.680A>G (p.Glu227Gly)
1g.209630686T>GCA344593660LAMB3c.872A>C (p.Glu291Ala)
c.680A>C (p.Glu227Ala)
1g.209630686T=CA2484301205LAMB3c.872A= (p.Glu291=)
c.680A= (p.Glu227=)
1g.209630687C>ACA344593666LAMB3c.871G>T (p.Glu291Ter)
c.679G>T (p.Glu227Ter)
1g.209630687C=CA2484301206LAMB3c.871G= (p.Glu291=)
c.679G= (p.Glu227=)
1g.209630687C>GCA344593670LAMB3c.871G>C (p.Glu291Gln)
c.679G>C (p.Glu227Gln)
1g.209630687C>TCA1375801LAMB3c.871G>A (p.Glu291Lys)
c.679G>A (p.Glu227Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630688A=CA2484301207LAMB3c.870T= (p.Cys290=)
c.678T= (p.Cys226=)
1g.209630688A>CCA344593672LAMB3c.870T>G (p.Cys290Trp)
c.678T>G (p.Cys226Trp)
1g.209630688A>GCA423032450LAMB3c.870T>C (p.Cys290=)
c.678T>C (p.Cys226=)
 dbSNP gnomAD v3 gnomAD v4
1g.209630688A>TCA16040700LAMB3c.870T>A (p.Cys290Ter)
c.678T>A (p.Cys226Ter)
 ClinVar dbSNP
1g.209630689C>ACA344593677LAMB3c.869G>T (p.Cys290Phe)
c.677G>T (p.Cys226Phe)
1g.209630689C>GCA344593678LAMB3c.869G>C (p.Cys290Ser)
c.677G>C (p.Cys226Ser)
1g.209630689C>TCA344593680LAMB3c.869G>A (p.Cys290Tyr)
c.677G>A (p.Cys226Tyr)
1g.209630690A=CA2484301208LAMB3c.868T= (p.Cys290=)
c.676T= (p.Cys226=)
1g.209630690A>CCA344593684LAMB3c.868T>G (p.Cys290Gly)
c.676T>G (p.Cys226Gly)
1g.209630690A>GCA344593686LAMB3c.868T>C (p.Cys290Arg)
c.676T>C (p.Cys226Arg)
1g.209630690A>TCA344593688LAMB3c.868T>A (p.Cys290Ser)
c.676T>A (p.Cys226Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209630691A=CA1141475536LAMB3c.867T= (p.Asn289=)
c.675T= (p.Asn225=)
1g.209630691A>CCA344593693LAMB3c.867T>G (p.Asn289Lys)
c.675T>G (p.Asn225Lys)
1g.209630691A>GCA1375802LAMB3c.867T>C (p.Asn289=)
c.675T>C (p.Asn225=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630691A>TCA344593697LAMB3c.867T>A (p.Asn289Lys)
c.675T>A (p.Asn225Lys)
1g.209630692T>ACA344593700LAMB3c.866A>T (p.Asn289Ile)
c.674A>T (p.Asn225Ile)
1g.209630692T>CCA344593705LAMB3c.866A>G (p.Asn289Ser)
c.674A>G (p.Asn225Ser)
 dbSNP
1g.209630692T>GCA344593702LAMB3c.866A>C (p.Asn289Thr)
c.674A>C (p.Asn225Thr)
1g.209630692T=CA2484301209LAMB3c.866A= (p.Asn289=)
c.674A= (p.Asn225=)
1g.209630693T>ACA344593709LAMB3c.865A>T (p.Asn289Tyr)
c.673A>T (p.Asn225Tyr)
1g.209630693T>CCA344593712LAMB3c.865A>G (p.Asn289Asp)
c.673A>G (p.Asn225Asp)
1g.209630693T>GCA344593715LAMB3c.865A>C (p.Asn289His)
c.673A>C (p.Asn225His)
1g.209630694T>ACA423032451LAMB3c.864A>T (p.Pro288=)
c.672A>T (p.Pro224=)
1g.209630694T>CCA423032452LAMB3c.864A>G (p.Pro288=)
c.672A>G (p.Pro224=)
1g.209630694T>GCA423032453LAMB3c.864A>C (p.Pro288=)
c.672A>C (p.Pro224=)
1g.209630695G>ACA344593717LAMB3c.863C>T (p.Pro288Leu)
c.671C>T (p.Pro224Leu)
1g.209630695G>CCA344593719LAMB3c.863C>G (p.Pro288Arg)
c.671C>G (p.Pro224Arg)
1g.209630695G>TCA344593722LAMB3c.863C>A (p.Pro288Gln)
c.671C>A (p.Pro224Gln)
1g.209630697delCA2580062015LAMB3c.863del (p.Pro288GlnfsTer?)
c.671del (p.Pro224GlnfsTer?)
 ClinVar
1g.209630696G>ACA1375803LAMB3c.862C>T (p.Pro288Ser)
c.670C>T (p.Pro224Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630696G>CCA344593727LAMB3c.862C>G (p.Pro288Ala)
c.670C>G (p.Pro224Ala)
1g.209630696G=CA1142301968LAMB3c.862C= (p.Pro288=)
c.670C= (p.Pro224=)
1g.209630696G>TCA344593729LAMB3c.862C>A (p.Pro288Thr)
c.670C>A (p.Pro224Thr)
1g.209630697G>ACA423032454LAMB3c.861C>T (p.Gly287=)
c.669C>T (p.Gly223=)
1g.209630697G>CCA423032455LAMB3c.861C>G (p.Gly287=)
c.669C>G (p.Gly223=)
1g.209630697G>TCA423032456LAMB3c.861C>A (p.Gly287=)
c.669C>A (p.Gly223=)
1g.209630698C>ACA344593735LAMB3c.860G>T (p.Gly287Val)
c.668G>T (p.Gly223Val)
1g.209630698C>GCA344593737LAMB3c.860G>C (p.Gly287Ala)
c.668G>C (p.Gly223Ala)
1g.209630698C>TCA344593733LAMB3c.860G>A (p.Gly287Asp)
c.668G>A (p.Gly223Asp)
1g.209630699C>ACA344593739LAMB3c.859G>T (p.Gly287Cys)
c.667G>T (p.Gly223Cys)
1g.209630699C=CA1142012916LAMB3c.859G= (p.Gly287=)
c.667G= (p.Gly223=)
1g.209630699C>GCA344593741LAMB3c.859G>C (p.Gly287Arg)
c.667G>C (p.Gly223Arg)
1g.209630699C>TCA1375804LAMB3c.859G>A (p.Gly287Ser)
c.667G>A (p.Gly223Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630700G>ACA1375805LAMB3c.858C>T (p.Ala286=)
c.666C>T (p.Ala222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630700G>CCA423032457LAMB3c.858C>G (p.Ala286=)
c.666C>G (p.Ala222=)
1g.209630700G=CA1143389784LAMB3c.858C= (p.Ala286=)
c.666C= (p.Ala222=)
1g.209630700G>TCA1375806LAMB3c.858C>A (p.Ala286=)
c.666C>A (p.Ala222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630701G>ACA344593747LAMB3c.857C>T (p.Ala286Val)
c.665C>T (p.Ala222Val)
1g.209630701G>CCA344593748LAMB3c.857C>G (p.Ala286Gly)
c.665C>G (p.Ala222Gly)
1g.209630701G=CA2484301210LAMB3c.857C= (p.Ala286=)
c.665C= (p.Ala222=)
1g.209630701G>TCA344593750LAMB3c.857C>A (p.Ala286Asp)
c.665C>A (p.Ala222Asp)
 dbSNP
1g.209630702C>ACA344593752LAMB3c.856G>T (p.Ala286Ser)
c.664G>T (p.Ala222Ser)
1g.209630702C>GCA344593754LAMB3c.856G>C (p.Ala286Pro)
c.664G>C (p.Ala222Pro)
1g.209630702C>TCA344593755LAMB3c.856G>A (p.Ala286Thr)
c.664G>A (p.Ala222Thr)
1g.209630703A>CCA423032458LAMB3c.855T>G (p.Thr285=)
c.663T>G (p.Thr221=)
1g.209630703A>GCA423032459LAMB3c.855T>C (p.Thr285=)
c.663T>C (p.Thr221=)
1g.209630703A>TCA423032460LAMB3c.855T>A (p.Thr285=)
c.663T>A (p.Thr221=)
1g.209630704G>ACA344593760LAMB3c.854C>T (p.Thr285Ile)
c.662C>T (p.Thr221Ile)
 gnomAD v4
1g.209630704G>CCA344593759LAMB3c.854C>G (p.Thr285Ser)
c.662C>G (p.Thr221Ser)
1g.209630704G>TCA344593758LAMB3c.854C>A (p.Thr285Asn)
c.662C>A (p.Thr221Asn)
1g.209630705T>ACA344593761LAMB3c.853A>T (p.Thr285Ser)
c.661A>T (p.Thr221Ser)
1g.209630705T>CCA344593763LAMB3c.853A>G (p.Thr285Ala)
c.661A>G (p.Thr221Ala)
1g.209630705T>GCA344593765LAMB3c.853A>C (p.Thr285Pro)
c.661A>C (p.Thr221Pro)
 dbSNP
1g.209630705T=CA2484301211LAMB3c.853A= (p.Thr285=)
c.661A= (p.Thr221=)
1g.209630705_209630706insTACTAGGCA2580062016LAMB3c.852_853insCCTAGTA (p.Thr285ProfsTer9)
c.660_661insCCTAGTA (p.Thr221ProfsTer9)
 ClinVar
1g.209630706G>ACA423032461LAMB3c.852C>T (p.Asn284=)
c.660C>T (p.Asn220=)
1g.209630706G>CCA344593767LAMB3c.852C>G (p.Asn284Lys)
c.660C>G (p.Asn220Lys)
1g.209630706G>TCA344593769LAMB3c.852C>A (p.Asn284Lys)
c.660C>A (p.Asn220Lys)
1g.209630707T>ACA344593771LAMB3c.851A>T (p.Asn284Ile)
c.659A>T (p.Asn220Ile)
1g.209630707T>CCA344593773LAMB3c.851A>G (p.Asn284Ser)
c.659A>G (p.Asn220Ser)
1g.209630707T>GCA344593775LAMB3c.851A>C (p.Asn284Thr)
c.659A>C (p.Asn220Thr)
1g.209630708T>ACA344593777LAMB3c.850A>T (p.Asn284Tyr)
c.658A>T (p.Asn220Tyr)
1g.209630708T>CCA344593778LAMB3c.850A>G (p.Asn284Asp)
c.658A>G (p.Asn220Asp)
1g.209630708T>GCA344593780LAMB3c.850A>C (p.Asn284His)
c.658A>C (p.Asn220His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630708T=CA2484301212LAMB3c.850A= (p.Asn284=)
c.658A= (p.Asn220=)
1g.209630709G>ACA423032462LAMB3c.849C>T (p.His283=)
c.657C>T (p.His219=)
 ClinVar
1g.209630709G>CCA344593782LAMB3c.849C>G (p.His283Gln)
c.657C>G (p.His219Gln)
1g.209630709G>TCA344593784LAMB3c.849C>A (p.His283Gln)
c.657C>A (p.His219Gln)
 gnomAD v4
1g.209630710T>ACA344593788LAMB3c.848A>T (p.His283Leu)
c.656A>T (p.His219Leu)
 gnomAD v4
1g.209630710T>CCA344593790LAMB3c.848A>G (p.His283Arg)
c.656A>G (p.His219Arg)
1g.209630710T>GCA344593786LAMB3c.848A>C (p.His283Pro)
c.656A>C (p.His219Pro)
1g.209630711G>ACA344593792LAMB3c.847C>T (p.His283Tyr)
c.655C>T (p.His219Tyr)
1g.209630711G>CCA344593794LAMB3c.847C>G (p.His283Asp)
c.655C>G (p.His219Asp)
1g.209630711G>TCA344593795LAMB3c.847C>A (p.His283Asn)
c.655C>A (p.His219Asn)
1g.209630712C>ACA344593797LAMB3c.846G>T (p.Gln282His)
c.654G>T (p.Gln218His)
 dbSNP
1g.209630712C=CA2484301213LAMB3c.846G= (p.Gln282=)
c.654G= (p.Gln218=)
1g.209630712C>GCA344593799LAMB3c.846G>C (p.Gln282His)
c.654G>C (p.Gln218His)
1g.209630712C>TCA423032463LAMB3c.846G>A (p.Gln282=)
c.654G>A (p.Gln218=)
1g.209630713T>ACA344593801LAMB3c.845A>T (p.Gln282Leu)
c.653A>T (p.Gln218Leu)
1g.209630713T>CCA344593803LAMB3c.845A>G (p.Gln282Arg)
c.653A>G (p.Gln218Arg)
1g.209630713T>GCA344593805LAMB3c.845A>C (p.Gln282Pro)
c.653A>C (p.Gln218Pro)
1g.209630714G>ACA344593807LAMB3c.844C>T (p.Gln282Ter)
c.652C>T (p.Gln218Ter)
1g.209630714G>CCA344593809LAMB3c.844C>G (p.Gln282Glu)
c.652C>G (p.Gln218Glu)
1g.209630714G>TCA344593811LAMB3c.844C>A (p.Gln282Lys)
c.652C>A (p.Gln218Lys)
1g.209630715G>ACA423032464LAMB3c.843C>T (p.Cys281=)
c.651C>T (p.Cys217=)
1g.209630715G>CCA344593812LAMB3c.843C>G (p.Cys281Trp)
c.651C>G (p.Cys217Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.209630715G=CA2484301214LAMB3c.843C= (p.Cys281=)
c.651C= (p.Cys217=)
1g.209630715G>TCA344593814LAMB3c.843C>A (p.Cys281Ter)
c.651C>A (p.Cys217Ter)
1g.209630716C>ACA344593820LAMB3c.842G>T (p.Cys281Phe)
c.650G>T (p.Cys217Phe)
1g.209630716C>GCA344593818LAMB3c.842G>C (p.Cys281Ser)
c.650G>C (p.Cys217Ser)
1g.209630716C>TCA344593816LAMB3c.842G>A (p.Cys281Tyr)
c.650G>A (p.Cys217Tyr)
1g.209630717A>CCA344593822LAMB3c.841T>G (p.Cys281Gly)
c.649T>G (p.Cys217Gly)
1g.209630717A>GCA344593823LAMB3c.841T>C (p.Cys281Arg)
c.649T>C (p.Cys217Arg)
1g.209630717A>TCA344593825LAMB3c.841T>A (p.Cys281Ser)
c.649T>A (p.Cys217Ser)
1g.209630718G>ACA423032465LAMB3c.840C>T (p.Val280=)
c.648C>T (p.Val216=)
 dbSNP gnomAD v2 gnomAD v4
1g.209630718G>CCA423032466LAMB3c.840C>G (p.Val280=)
c.648C>G (p.Val216=)
 gnomAD v4
1g.209630718G=CA2484301215LAMB3c.840C= (p.Val280=)
c.648C= (p.Val216=)
1g.209630718G>TCA423032467LAMB3c.840C>A (p.Val280=)
c.648C>A (p.Val216=)
1g.209630719A>CCA344593827LAMB3c.839T>G (p.Val280Gly)
c.647T>G (p.Val216Gly)
1g.209630719A>GCA344593829LAMB3c.839T>C (p.Val280Ala)
c.647T>C (p.Val216Ala)
1g.209630719A>TCA344593831LAMB3c.839T>A (p.Val280Asp)
c.647T>A (p.Val216Asp)
1g.209630720C>ACA344593833LAMB3c.838G>T (p.Val280Phe)
c.646G>T (p.Val216Phe)
1g.209630720C>GCA344593834LAMB3c.838G>C (p.Val280Leu)
c.646G>C (p.Val216Leu)
1g.209630720C>TCA344593836LAMB3c.838G>A (p.Val280Ile)
c.646G>A (p.Val216Ile)
 gnomAD v4 COSMIC
1g.209630721A>CCA344593838LAMB3c.837T>G (p.Cys279Trp)
c.645T>G (p.Cys215Trp)
1g.209630721A>GCA423032468LAMB3c.837T>C (p.Cys279=)
c.645T>C (p.Cys215=)
1g.209630721A>TCA344593840LAMB3c.837T>A (p.Cys279Ter)
c.645T>A (p.Cys215Ter)
1g.209630722C>ACA344593842LAMB3c.836G>T (p.Cys279Phe)
c.644G>T (p.Cys215Phe)
1g.209630722C=CA2484301216LAMB3c.836G= (p.Cys279=)
c.644G= (p.Cys215=)
1g.209630722C>GCA344593844LAMB3c.836G>C (p.Cys279Ser)
c.644G>C (p.Cys215Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630722C>TCA344593846LAMB3c.836G>A (p.Cys279Tyr)
c.644G>A (p.Cys215Tyr)
1g.209630723A>CCA344593852LAMB3c.835T>G (p.Cys279Gly)
c.643T>G (p.Cys215Gly)
1g.209630723A>GCA344593854LAMB3c.835T>C (p.Cys279Arg)
c.643T>C (p.Cys215Arg)
1g.209630723A>TCA344593851LAMB3c.835T>A (p.Cys279Ser)
c.643T>A (p.Cys215Ser)
1g.209630724G>ACA423032469LAMB3c.834C>T (p.Val278=)
c.642C>T (p.Val214=)
 ClinVar gnomAD v4
1g.209630724G>CCA423032470LAMB3c.834C>G (p.Val278=)
c.642C>G (p.Val214=)
 ClinVar dbSNP
1g.209630724G>TCA423032471LAMB3c.834C>A (p.Val278=)
c.642C>A (p.Val214=)
1g.209630725A>CCA344593856LAMB3c.833T>G (p.Val278Gly)
c.641T>G (p.Val214Gly)
1g.209630725A>GCA344593857LAMB3c.833T>C (p.Val278Ala)
c.641T>C (p.Val214Ala)
1g.209630725A>TCA344593859LAMB3c.833T>A (p.Val278Asp)
c.641T>A (p.Val214Asp)
1g.209630726C>ACA344593860LAMB3c.832G>T (p.Val278Phe)
c.640G>T (p.Val214Phe)
1g.209630726C=CA1146299041LAMB3c.832G= (p.Val278=)
c.640G= (p.Val214=)
1g.209630726C>GCA36758938LAMB3c.832G>C (p.Val278Leu)
c.640G>C (p.Val214Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630726C>TCA344593863LAMB3c.832G>A (p.Val278Ile)
c.640G>A (p.Val214Ile)
 gnomAD v4
1g.209630727A=CA2484301217LAMB3c.831T= (p.Asp277=)
c.639T= (p.Asp213=)
1g.209630727A>CCA344593864LAMB3c.831T>G (p.Asp277Glu)
c.639T>G (p.Asp213Glu)
 gnomAD v4
1g.209630727A>GCA423032472LAMB3c.831T>C (p.Asp277=)
c.639T>C (p.Asp213=)
 ClinVar dbSNP gnomAD v4
1g.209630727A>TCA344593866LAMB3c.831T>A (p.Asp277Glu)
c.639T>A (p.Asp213Glu)
1g.209630728T>ACA344593868LAMB3c.830A>T (p.Asp277Val)
c.638A>T (p.Asp213Val)
1g.209630728T>CCA344593869LAMB3c.830A>G (p.Asp277Gly)
c.638A>G (p.Asp213Gly)
 gnomAD v4
1g.209630728T>GCA344593871LAMB3c.830A>C (p.Asp277Ala)
c.638A>C (p.Asp213Ala)
1g.209630728_209630729delinsTCCA2484301218LAMB3c.829_830delinsGA (p.Asp277=)
c.637_638delinsGA (p.Asp213=)
1g.209630729delCA528652862LAMB3c.829del (p.Asp277MetfsTer?)
c.637del (p.Asp213MetfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.209630729C>ACA344593874LAMB3c.829G>T (p.Asp277Tyr)
c.637G>T (p.Asp213Tyr)
1g.209630729C=CA1143700449LAMB3c.829G= (p.Asp277=)
c.637G= (p.Asp213=)
1g.209630729C>GCA344593875LAMB3c.829G>C (p.Asp277His)
c.637G>C (p.Asp213His)
 dbSNP
1g.209630729C>TCA1375807LAMB3c.829G>A (p.Asp277Asn)
c.637G>A (p.Asp213Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630730G>ACA36758940LAMB3c.828C>T (p.His276=)
c.636C>T (p.His212=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630730G>CCA1375808LAMB3c.828C>G (p.His276Gln)
c.636C>G (p.His212Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630730G=CA1142527123LAMB3c.828C= (p.His276=)
c.636C= (p.His212=)
1g.209630730G>TCA344593880LAMB3c.828C>A (p.His276Gln)
c.636C>A (p.His212Gln)
1g.209630731T>ACA344593882LAMB3c.827A>T (p.His276Leu)
c.635A>T (p.His212Leu)
1g.209630731T>CCA344593884LAMB3c.827A>G (p.His276Arg)
c.635A>G (p.His212Arg)
1g.209630731T>GCA344593886LAMB3c.827A>C (p.His276Pro)
c.635A>C (p.His212Pro)
1g.209630732G>ACA344593888LAMB3c.826C>T (p.His276Tyr)
c.634C>T (p.His212Tyr)
1g.209630732G>CCA344593890LAMB3c.826C>G (p.His276Asp)
c.634C>G (p.His212Asp)
1g.209630732G>TCA344593892LAMB3c.826C>A (p.His276Asn)
c.634C>A (p.His212Asn)
1g.209630733G>ACA423032474LAMB3c.825C>T (p.Val275=)
c.633C>T (p.Val211=)
 dbSNP gnomAD v4
1g.209630733G>CCA423032475LAMB3c.825C>G (p.Val275=)
c.633C>G (p.Val211=)
1g.209630733G=CA2484301219LAMB3c.825C= (p.Val275=)
c.633C= (p.Val211=)
1g.209630733G>TCA423032476LAMB3c.825C>A (p.Val275=)
c.633C>A (p.Val211=)
 gnomAD v4
1g.209630734A=CA2484301220LAMB3c.824T= (p.Val275=)
c.632T= (p.Val211=)
1g.209630734A>CCA344593898LAMB3c.824T>G (p.Val275Gly)
c.632T>G (p.Val211Gly)
1g.209630734A>GCA1375809LAMB3c.824T>C (p.Val275Ala)
c.632T>C (p.Val211Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630734A>TCA344593900LAMB3c.824T>A (p.Val275Asp)
c.632T>A (p.Val211Asp)
1g.209630735C>ACA344593903LAMB3c.823G>T (p.Val275Phe)
c.631G>T (p.Val211Phe)
 gnomAD v4
1g.209630735C>GCA344593904LAMB3c.823G>C (p.Val275Leu)
c.631G>C (p.Val211Leu)
 gnomAD v4
1g.209630735C>TCA344593906LAMB3c.823G>A (p.Val275Ile)
c.631G>A (p.Val211Ile)
1g.209630736C>ACA1375810LAMB3c.823-1G>T (n.823-1G>T)
c.631-1G>T (n.631-1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630736C=CA2484301221LAMB3c.823-1G= (n.823-1G=)
c.631-1G= (n.631-1G=)
1g.209630736C>GCA344593910LAMB3c.823-1G>C (n.823-1G>C)
c.631-1G>C (n.631-1G>C)
1g.209630736C>TCA344593909LAMB3c.823-1G>A (n.823-1G>A)
c.631-1G>A (n.631-1G>A)
 ClinVar dbSNP gnomAD v4
1g.209630737T>ACA344593916LAMB3c.823-2A>T (n.823-2A>T)
c.631-2A>T (n.631-2A>T)
 ClinVar dbSNP
1g.209630737T>CCA344593914LAMB3c.823-2A>G (n.823-2A>G)
c.631-2A>G (n.631-2A>G)
 gnomAD v4
1g.209630737T>GCA344593918LAMB3c.823-2A>C (n.823-2A>C)
c.631-2A>C (n.631-2A>C)
 ClinVar
1g.209630740G>ACA2574004104LAMB3c.823-5C>T (n.823-5C>T)
c.631-5C>T (n.631-5C>T)
 gnomAD v4
1g.209630740G>CCA2650323803LAMB3c.823-5C>G (n.823-5C>G)
c.631-5C>G (n.631-5C>G)
 gnomAD v4
1g.209630741A>GCA2650323804LAMB3c.823-6T>C (n.823-6T>C)
c.631-6T>C (n.631-6T>C)
 gnomAD v4
1g.209630742G>ACA2499214426LAMB3c.823-7C>T (n.823-7C>T)
c.631-7C>T (n.631-7C>T)
 ClinVar dbSNP gnomAD v4
1g.209630742G>CCA1375811LAMB3c.823-7C>G (n.823-7C>G)
c.631-7C>G (n.631-7C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630742G=CA1148460165LAMB3c.823-7C= (n.823-7C=)
c.631-7C= (n.631-7C=)
1g.209630742G>TCA2650323808LAMB3c.823-7C>A (n.823-7C>A)
c.631-7C>A (n.631-7C>A)
 gnomAD v4
1g.209630746delCA2580062017LAMB3c.823-7del (n.823-7del)
c.631-7del (n.631-7del)
 ClinVar gnomAD v4
1g.209630743G>ACA2574004110LAMB3c.823-8C>T (n.823-8C>T)
c.631-8C>T (n.631-8C>T)
 ClinVar gnomAD v4
1g.209630743G>CCA2580062019LAMB3c.823-8C>G (n.823-8C>G)
c.631-8C>G (n.631-8C>G)
 ClinVar
1g.209630744G>ACA2650323813LAMB3c.823-9C>T (n.823-9C>T)
c.631-9C>T (n.631-9C>T)
 gnomAD v4
1g.209630744G>CCA528652863LAMB3c.823-9C>G (n.823-9C>G)
c.631-9C>G (n.631-9C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630744G=CA2484301222LAMB3c.823-9C= (n.823-9C=)
c.631-9C= (n.631-9C=)
1g.209630744G>TCA528652864LAMB3c.823-9C>A (n.823-9C>A)
c.631-9C>A (n.631-9C>A)
 dbSNP gnomAD v2
1g.209630745G=CA2484301223LAMB3c.823-10C= (n.823-10C=)
c.631-10C= (n.631-10C=)
1g.209630745G>TCA528652865LAMB3c.823-10C>A (n.823-10C>A)
c.631-10C>A (n.631-10C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.209630746G>ACA528652866LAMB3c.823-11C>T (n.823-11C>T)
c.631-11C>T (n.631-11C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.209630746G>CCA2484301224LAMB3c.823-11C>G (n.823-11C>G)
c.631-11C>G (n.631-11C>G)
 ClinVar dbSNP
1g.209630746G=CA2484301225LAMB3c.823-11C= (n.823-11C=)
c.631-11C= (n.631-11C=)
1g.209630746G>TCA2650323815LAMB3c.823-11C>A (n.823-11C>A)
c.631-11C>A (n.631-11C>A)
 ClinVar gnomAD v4
1g.209630748C=CA2484301226LAMB3c.823-13G= (n.823-13G=)
c.631-13G= (n.631-13G=)
1g.209630748C>TCA36758950LAMB3c.823-13G>A (n.823-13G>A)
c.631-13G>A (n.631-13G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.209630749C>TCA2574004181LAMB3c.823-14G>A (n.823-14G>A)
c.631-14G>A (n.631-14G>A)
 gnomAD v4
1g.209630750G>ACA1375812LAMB3c.823-15C>T (n.823-15C>T)
c.631-15C>T (n.631-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630750G>CCA2484301227LAMB3c.823-15C>G (n.823-15C>G)
c.631-15C>G (n.631-15C>G)
 dbSNP
1g.209630750G=CA1140044434LAMB3c.823-15C= (n.823-15C=)
c.631-15C= (n.631-15C=)
1g.209630750G>TCA2484301228LAMB3c.823-15C>A (n.823-15C>A)
c.631-15C>A (n.631-15C>A)
 dbSNP gnomAD v4
1g.209630751T>ACA36758953LAMB3c.823-16A>T (n.823-16A>T)
c.631-16A>T (n.631-16A>T)
 dbSNP
1g.209630751T>CCA2650323825LAMB3c.823-16A>G (n.823-16A>G)
c.631-16A>G (n.631-16A>G)
 ClinVar gnomAD v4
1g.209630751T=CA2484301229LAMB3c.823-16A= (n.823-16A=)
c.631-16A= (n.631-16A=)
1g.209630754G>TCA2650323827LAMB3c.823-19C>A (n.823-19C>A)
c.631-19C>A (n.631-19C>A)
 gnomAD v4
1g.209630755C>ACA528652867LAMB3c.823-20G>T (n.823-20G>T)
c.631-20G>T (n.631-20G>T)
 dbSNP gnomAD v2
1g.209630755C=CA2484301230LAMB3c.823-20G= (n.823-20G=)
c.631-20G= (n.631-20G=)
1g.209630755C>TCA2484301231LAMB3c.823-20G>A (n.823-20G>A)
c.631-20G>A (n.631-20G>A)
 dbSNP gnomAD v4
1g.209630756C=CA2484301232LAMB3c.823-21G= (n.823-21G=)
c.631-21G= (n.631-21G=)
1g.209630756C>GCA528652868LAMB3c.823-21G>C (n.823-21G>C)
c.631-21G>C (n.631-21G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.209630758T>CCA2650323828LAMB3c.823-23A>G (n.823-23A>G)
c.631-23A>G (n.631-23A>G)
 gnomAD v4
1g.209630760A=CA2484301233LAMB3c.823-25T= (n.823-25T=)
c.631-25T= (n.631-25T=)
1g.209630760A>GCA2484301234LAMB3c.823-25T>C (n.823-25T>C)
c.631-25T>C (n.631-25T>C)
 dbSNP
1g.209630761G>ACA36758954LAMB3c.823-26C>T (n.823-26C>T)
c.631-26C>T (n.631-26C>T)
 dbSNP
1g.209630761G=CA2484301235LAMB3c.823-26C= (n.823-26C=)
c.631-26C= (n.631-26C=)
1g.209630762G>ACA1375813LAMB3c.823-27C>T (n.823-27C>T)
c.631-27C>T (n.631-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630762G>CCA528652869LAMB3c.823-27C>G (n.823-27C>G)
c.631-27C>G (n.631-27C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.209630762G=CA2484301236LAMB3c.823-27C= (n.823-27C=)
c.631-27C= (n.631-27C=)
1g.209630763A>GCA2650323833LAMB3c.823-28T>C (n.823-28T>C)
c.631-28T>C (n.631-28T>C)
 gnomAD v4
1g.209630764G>ACA36758957LAMB3c.823-29C>T (n.823-29C>T)
c.631-29C>T (n.631-29C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630764G>CCA2484301238LAMB3c.823-29C>G (n.823-29C>G)
c.631-29C>G (n.631-29C>G)
 dbSNP
1g.209630764G=CA2484301237LAMB3c.823-29C= (n.823-29C=)
c.631-29C= (n.631-29C=)

Number of alleles fetched