Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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)

Number of alleles fetched