Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209630616T>ACA344593215LAMB3c.942A>T (p.Gln314His)
c.750A>T (p.Gln250His)
1g.209630616T>CCA423032414LAMB3c.942A>G (p.Gln314=)
c.750A>G (p.Gln250=)
 gnomAD v4
1g.209630616T>GCA344593217LAMB3c.942A>C (p.Gln314His)
c.750A>C (p.Gln250His)
1g.209630616T=CA2484301173LAMB3c.942A= (p.Gln314=)
c.750A= (p.Gln250=)
1g.209630616_209630617insACA1375774LAMB3c.941_942insT (p.Gln314HisfsTer15)
c.749_750insT (p.Gln250HisfsTer15)
 dbSNP ExAC
1g.209630617T>ACA344593223LAMB3c.941A>T (p.Gln314Leu)
c.749A>T (p.Gln250Leu)
1g.209630617T>CCA344593225LAMB3c.941A>G (p.Gln314Arg)
c.749A>G (p.Gln250Arg)
1g.209630617T>GCA1375775LAMB3c.941A>C (p.Gln314Pro)
c.749A>C (p.Gln250Pro)
 dbSNP ExAC
1g.209630617T=CA2484301174LAMB3c.941A= (p.Gln314=)
c.749A= (p.Gln250=)
1g.209630618G>ACA344593230LAMB3c.940C>T (p.Gln314Ter)
c.748C>T (p.Gln250Ter)
 ClinVar dbSNP gnomAD v4
1g.209630618G>CCA344593232LAMB3c.940C>G (p.Gln314Glu)
c.748C>G (p.Gln250Glu)
1g.209630618G=CA2484301175LAMB3c.940C= (p.Gln314=)
c.748C= (p.Gln250=)
1g.209630618G>TCA344593234LAMB3c.940C>A (p.Gln314Lys)
c.748C>A (p.Gln250Lys)
1g.209630619G>ACA1375776LAMB3c.939C>T (p.Cys313=)
c.747C>T (p.Cys249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630619G>CCA344593242LAMB3c.939C>G (p.Cys313Trp)
c.747C>G (p.Cys249Trp)
1g.209630619G=CA2484301176LAMB3c.939C= (p.Cys313=)
c.747C= (p.Cys249=)
1g.209630619G>TCA344593238LAMB3c.939C>A (p.Cys313Ter)
c.747C>A (p.Cys249Ter)
 ClinVar dbSNP gnomAD v4
1g.209630620C>ACA344593245LAMB3c.938G>T (p.Cys313Phe)
c.746G>T (p.Cys249Phe)
1g.209630620C>GCA344593247LAMB3c.938G>C (p.Cys313Ser)
c.746G>C (p.Cys249Ser)
1g.209630620C>TCA344593250LAMB3c.938G>A (p.Cys313Tyr)
c.746G>A (p.Cys249Tyr)
 gnomAD v4
1g.209630621A>CCA344593252LAMB3c.937T>G (p.Cys313Gly)
c.745T>G (p.Cys249Gly)
1g.209630621A>GCA344593254LAMB3c.937T>C (p.Cys313Arg)
c.745T>C (p.Cys249Arg)
1g.209630621A>TCA344593256LAMB3c.937T>A (p.Cys313Ser)
c.745T>A (p.Cys249Ser)
1g.209630622T>ACA344593260LAMB3c.936A>T (p.Glu312Asp)
c.744A>T (p.Glu248Asp)
1g.209630622T>CCA1375777LAMB3c.936A>G (p.Glu312=)
c.744A>G (p.Glu248=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630622T>GCA344593263LAMB3c.936A>C (p.Glu312Asp)
c.744A>C (p.Glu248Asp)
1g.209630622T=CA2484301177LAMB3c.936A= (p.Glu312=)
c.744A= (p.Glu248=)
1g.209630623T>ACA344593265LAMB3c.935A>T (p.Glu312Val)
c.743A>T (p.Glu248Val)
1g.209630623T>CCA344593267LAMB3c.935A>G (p.Glu312Gly)
c.743A>G (p.Glu248Gly)
1g.209630623T>GCA344593270LAMB3c.935A>C (p.Glu312Ala)
c.743A>C (p.Glu248Ala)
1g.209630624C>ACA344593277LAMB3c.934G>T (p.Glu312Ter)
c.742G>T (p.Glu248Ter)
1g.209630624C>GCA344593279LAMB3c.934G>C (p.Glu312Gln)
c.742G>C (p.Glu248Gln)
1g.209630624C>TCA344593274LAMB3c.934G>A (p.Glu312Lys)
c.742G>A (p.Glu248Lys)
1g.209630625A=CA2484301178LAMB3c.933T= (p.His311=)
c.741T= (p.His247=)
1g.209630625A>CCA344593281LAMB3c.933T>G (p.His311Gln)
c.741T>G (p.His247Gln)
1g.209630625A>GCA423032416LAMB3c.933T>C (p.His311=)
c.741T>C (p.His247=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630625A>TCA344593283LAMB3c.933T>A (p.His311Gln)
c.741T>A (p.His247Gln)
1g.209630626T>ACA344593286LAMB3c.932A>T (p.His311Leu)
c.740A>T (p.His247Leu)
1g.209630626T>CCA344593289LAMB3c.932A>G (p.His311Arg)
c.740A>G (p.His247Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.209630626T>GCA344593290LAMB3c.932A>C (p.His311Pro)
c.740A>C (p.His247Pro)
1g.209630626T=CA2484301179LAMB3c.932A= (p.His311=)
c.740A= (p.His247=)
1g.209630627G>ACA344593298LAMB3c.931C>T (p.His311Tyr)
c.739C>T (p.His247Tyr)
1g.209630627G>CCA344593294LAMB3c.931C>G (p.His311Asp)
c.739C>G (p.His247Asp)
1g.209630627G>TCA344593296LAMB3c.931C>A (p.His311Asn)
c.739C>A (p.His247Asn)
1g.209630628G>ACA423032417LAMB3c.930C>T (p.Ala310=)
c.738C>T (p.Ala246=)
1g.209630628G>CCA423032418LAMB3c.930C>G (p.Ala310=)
c.738C>G (p.Ala246=)
1g.209630628G>TCA423032419LAMB3c.930C>A (p.Ala310=)
c.738C>A (p.Ala246=)
1g.209630629G>ACA1375778LAMB3c.929C>T (p.Ala310Val)
c.737C>T (p.Ala246Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630629G>CCA344593304LAMB3c.929C>G (p.Ala310Gly)
c.737C>G (p.Ala246Gly)
1g.209630629G=CA1143372629LAMB3c.929C= (p.Ala310=)
c.737C= (p.Ala246=)
1g.209630629G>TCA344593306LAMB3c.929C>A (p.Ala310Asp)
c.737C>A (p.Ala246Asp)
1g.209630630C>ACA344593308LAMB3c.928G>T (p.Ala310Ser)
c.736G>T (p.Ala246Ser)
 dbSNP
1g.209630630C=CA1141729199LAMB3c.928G= (p.Ala310=)
c.736G= (p.Ala246=)
1g.209630630C>GCA344593311LAMB3c.928G>C (p.Ala310Pro)
c.736G>C (p.Ala246Pro)
1g.209630630C>TCA1375779LAMB3c.928G>A (p.Ala310Thr)
c.736G>A (p.Ala246Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630631G>ACA1375780LAMB3c.927C>T (p.Asp309=)
c.735C>T (p.Asp245=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630631G>CCA344593318LAMB3c.927C>G (p.Asp309Glu)
c.735C>G (p.Asp245Glu)
1g.209630631G=CA1141781904LAMB3c.927C= (p.Asp309=)
c.735C= (p.Asp245=)
1g.209630631G>TCA1375781LAMB3c.927C>A (p.Asp309Glu)
c.735C>A (p.Asp245Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630632T>ACA344593322LAMB3c.926A>T (p.Asp309Val)
c.734A>T (p.Asp245Val)
1g.209630632T>CCA344593326LAMB3c.926A>G (p.Asp309Gly)
c.734A>G (p.Asp245Gly)
 gnomAD v4
1g.209630632T>GCA344593324LAMB3c.926A>C (p.Asp309Ala)
c.734A>C (p.Asp245Ala)
1g.209630633C>ACA344593330LAMB3c.925G>T (p.Asp309Tyr)
c.733G>T (p.Asp245Tyr)
1g.209630633C>GCA344593335LAMB3c.925G>C (p.Asp309His)
c.733G>C (p.Asp245His)
1g.209630633C>TCA344593332LAMB3c.925G>A (p.Asp309Asn)
c.733G>A (p.Asp245Asn)
1g.209630634C>ACA344593338LAMB3c.924G>T (p.Gln308His)
c.732G>T (p.Gln244His)
1g.209630634C=CA2484301180LAMB3c.924G= (p.Gln308=)
c.732G= (p.Gln244=)
1g.209630634C>GCA344593340LAMB3c.924G>C (p.Gln308His)
c.732G>C (p.Gln244His)
 dbSNP gnomAD v3 gnomAD v4
1g.209630634C>TCA423032420LAMB3c.924G>A (p.Gln308=)
c.732G>A (p.Gln244=)
 gnomAD v4
1g.209630635T>ACA344593344LAMB3c.923A>T (p.Gln308Leu)
c.731A>T (p.Gln244Leu)
1g.209630635T>CCA344593347LAMB3c.923A>G (p.Gln308Arg)
c.731A>G (p.Gln244Arg)
1g.209630635T>GCA344593346LAMB3c.923A>C (p.Gln308Pro)
c.731A>C (p.Gln244Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.209630635T=CA2484301181LAMB3c.923A= (p.Gln308=)
c.731A= (p.Gln244=)
1g.209630636G>ACA36758854LAMB3c.922C>T (p.Gln308Ter)
c.730C>T (p.Gln244Ter)
 dbSNP gnomAD v4
1g.209630636G>CCA344593350LAMB3c.922C>G (p.Gln308Glu)
c.730C>G (p.Gln244Glu)
1g.209630636G=CA2484301182LAMB3c.922C= (p.Gln308=)
c.730C= (p.Gln244=)
1g.209630636G>TCA1375782LAMB3c.922C>A (p.Gln308Lys)
c.730C>A (p.Gln244Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630637G>ACA423032421LAMB3c.921C>T (p.Gly307=)
c.729C>T (p.Gly243=)
1g.209630637G>CCA423032422LAMB3c.921C>G (p.Gly307=)
c.729C>G (p.Gly243=)
1g.209630637G>TCA423032423LAMB3c.921C>A (p.Gly307=)
c.729C>A (p.Gly243=)
1g.209630637_209630638delinsGCCA2484301183LAMB3c.920_921delinsGC (p.Gly307=)
c.728_729delinsGC (p.Gly243=)
1g.209630638C>ACA1375784LAMB3c.920G>T (p.Gly307Val)
c.728G>T (p.Gly243Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630638C=CA2484301184LAMB3c.920G= (p.Gly307=)
c.728G= (p.Gly243=)
1g.209630638C>GCA344593358LAMB3c.920G>C (p.Gly307Ala)
c.728G>C (p.Gly243Ala)
1g.209630638C>TCA1375783LAMB3c.920G>A (p.Gly307Asp)
c.728G>A (p.Gly243Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209630640delCA16040699LAMB3c.920del (p.Gly307AlafsTer?)
c.728del (p.Gly243AlafsTer?)
 ClinVar dbSNP
1g.209630639C>ACA344593370LAMB3c.919G>T (p.Gly307Cys)
c.727G>T (p.Gly243Cys)
1g.209630639C>GCA344593366LAMB3c.919G>C (p.Gly307Arg)
c.727G>C (p.Gly243Arg)
1g.209630639C>TCA344593368LAMB3c.919G>A (p.Gly307Ser)
c.727G>A (p.Gly243Ser)
1g.209630640C>ACA344593373LAMB3c.918G>T (p.Glu306Asp)
c.726G>T (p.Glu242Asp)
 gnomAD v4
1g.209630640C=CA2484301185LAMB3c.918G= (p.Glu306=)
c.726G= (p.Glu242=)
1g.209630640C>GCA344593376LAMB3c.918G>C (p.Glu306Asp)
c.726G>C (p.Glu242Asp)
 dbSNP
1g.209630640C>TCA36758865LAMB3c.918G>A (p.Glu306=)
c.726G>A (p.Glu242=)
 dbSNP gnomAD v3 gnomAD v4
1g.209630641T>ACA344593378LAMB3c.917A>T (p.Glu306Val)
c.725A>T (p.Glu242Val)
1g.209630641T>CCA344593380LAMB3c.917A>G (p.Glu306Gly)
c.725A>G (p.Glu242Gly)
1g.209630641T>GCA344593385LAMB3c.917A>C (p.Glu306Ala)
c.725A>C (p.Glu242Ala)
1g.209630642C>ACA344593389LAMB3c.916G>T (p.Glu306Ter)
c.724G>T (p.Glu242Ter)
1g.209630642C>GCA344593393LAMB3c.916G>C (p.Glu306Gln)
c.724G>C (p.Glu242Gln)
1g.209630642C>TCA344593391LAMB3c.916G>A (p.Glu306Lys)
c.724G>A (p.Glu242Lys)
 COSMIC
1g.209630643C>ACA423032424LAMB3c.915G>T (p.Ala305=)
c.723G>T (p.Ala241=)
1g.209630643C=CA2484301186LAMB3c.915G= (p.Ala305=)
c.723G= (p.Ala241=)
1g.209630643C>GCA423032425LAMB3c.915G>C (p.Ala305=)
c.723G>C (p.Ala241=)
1g.209630643C>TCA1375785LAMB3c.915G>A (p.Ala305=)
c.723G>A (p.Ala241=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630644G>ACA1375786LAMB3c.914C>T (p.Ala305Val)
c.722C>T (p.Ala241Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630644G>CCA344593400LAMB3c.914C>G (p.Ala305Gly)
c.722C>G (p.Ala241Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.209630644G=CA2484301187LAMB3c.914C= (p.Ala305=)
c.722C= (p.Ala241=)
1g.209630644G>TCA344593403LAMB3c.914C>A (p.Ala305Glu)
c.722C>A (p.Ala241Glu)
1g.209630645C>ACA344593406LAMB3c.913G>T (p.Ala305Ser)
c.721G>T (p.Ala241Ser)
1g.209630645C>GCA344593409LAMB3c.913G>C (p.Ala305Pro)
c.721G>C (p.Ala241Pro)
1g.209630645C>TCA344593411LAMB3c.913G>A (p.Ala305Thr)
c.721G>A (p.Ala241Thr)
1g.209630646C>ACA423032426LAMB3c.912G>T (p.Pro304=)
c.720G>T (p.Pro240=)
 ClinVar dbSNP gnomAD v4
1g.209630646C=CA1143832051LAMB3c.912G= (p.Pro304=)
c.720G= (p.Pro240=)
1g.209630646C>GCA423032427LAMB3c.912G>C (p.Pro304=)
c.720G>C (p.Pro240=)
 gnomAD v4
1g.209630646C>TCA1375787LAMB3c.912G>A (p.Pro304=)
c.720G>A (p.Pro240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630647G>ACA1375788LAMB3c.911C>T (p.Pro304Leu)
c.719C>T (p.Pro240Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209630647G>CCA344593417LAMB3c.911C>G (p.Pro304Arg)
c.719C>G (p.Pro240Arg)
1g.209630647G=CA1141399481LAMB3c.911C= (p.Pro304=)
c.719C= (p.Pro240=)
1g.209630647G>TCA344593420LAMB3c.911C>A (p.Pro304Gln)
c.719C>A (p.Pro240Gln)
 gnomAD v4
1g.209630648G>ACA1375789LAMB3c.910C>T (p.Pro304Ser)
c.718C>T (p.Pro240Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630648G>CCA344593425LAMB3c.910C>G (p.Pro304Ala)
c.718C>G (p.Pro240Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.209630648G=CA2484301188LAMB3c.910C= (p.Pro304=)
c.718C= (p.Pro240=)
1g.209630648G>TCA344593422LAMB3c.910C>A (p.Pro304Thr)
c.718C>A (p.Pro240Thr)
1g.209630649T>ACA344593428LAMB3c.909A>T (p.Arg303Ser)
c.717A>T (p.Arg239Ser)
1g.209630649T>CCA423032428LAMB3c.909A>G (p.Arg303=)
c.717A>G (p.Arg239=)
1g.209630649T>GCA344593431LAMB3c.909A>C (p.Arg303Ser)
c.717A>C (p.Arg239Ser)
1g.209630650C>ACA344593433LAMB3c.908G>T (p.Arg303Ile)
c.716G>T (p.Arg239Ile)
1g.209630650C>GCA344593435LAMB3c.908G>C (p.Arg303Thr)
c.716G>C (p.Arg239Thr)
1g.209630650C>TCA344593436LAMB3c.908G>A (p.Arg303Lys)
c.716G>A (p.Arg239Lys)
1g.209630651T>ACA344593439LAMB3c.907A>T (p.Arg303Ter)
c.715A>T (p.Arg239Ter)
1g.209630651T>CCA344593441LAMB3c.907A>G (p.Arg303Gly)
c.715A>G (p.Arg239Gly)
 gnomAD v4
1g.209630651T>GCA423032429LAMB3c.907A>C (p.Arg303=)
c.715A>C (p.Arg239=)
 gnomAD v4
1g.209630652C>ACA344593444LAMB3c.906G>T (p.Trp302Cys)
c.714G>T (p.Trp238Cys)
1g.209630652C>GCA344593446LAMB3c.906G>C (p.Trp302Cys)
c.714G>C (p.Trp238Cys)
1g.209630652C>TCA344593449LAMB3c.906G>A (p.Trp302Ter)
c.714G>A (p.Trp238Ter)
 ClinVar
1g.209630653C>ACA344593452LAMB3c.905G>T (p.Trp302Leu)
c.713G>T (p.Trp238Leu)
1g.209630653C>GCA344593454LAMB3c.905G>C (p.Trp302Ser)
c.713G>C (p.Trp238Ser)
1g.209630653C>TCA344593457LAMB3c.905G>A (p.Trp302Ter)
c.713G>A (p.Trp238Ter)
1g.209630653_209630654delinsCACA2484301189LAMB3c.904_905delinsTG (p.Trp302=)
c.712_713delinsTG (p.Trp238=)
1g.209630654delCA257274LAMB3c.904del (p.Trp302GlyfsTer?)
c.712del (p.Trp238GlyfsTer?)
 ClinVar dbSNP gnomAD v4
1g.209630654A=CA2484301190LAMB3c.904T= (p.Trp302=)
c.712T= (p.Trp238=)
1g.209630654A>CCA344593463LAMB3c.904T>G (p.Trp302Gly)
c.712T>G (p.Trp238Gly)
1g.209630654A>GCA344593472LAMB3c.904T>C (p.Trp302Arg)
c.712T>C (p.Trp238Arg)
1g.209630654A>TCA344593468LAMB3c.904T>A (p.Trp302Arg)
c.712T>A (p.Trp238Arg)
1g.209630655G>ACA423032430LAMB3c.903C>T (p.Pro301=)
c.711C>T (p.Pro237=)
 ClinVar
1g.209630655G>CCA423032431LAMB3c.903C>G (p.Pro301=)
c.711C>G (p.Pro237=)
1g.209630655G=CA2484301191LAMB3c.903C= (p.Pro301=)
c.711C= (p.Pro237=)
1g.209630655G>TCA423032432LAMB3c.903C>A (p.Pro301=)
c.711C>A (p.Pro237=)
 dbSNP gnomAD v3 gnomAD v4
1g.209630657dupCA528652861LAMB3c.903dup (p.Trp302LeufsTer11)
c.711dup (p.Trp238LeufsTer11)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209630656G>ACA36758881LAMB3c.902C>T (p.Pro301Leu)
c.710C>T (p.Pro237Leu)
 dbSNP gnomAD v4
1g.209630656G>CCA344593476LAMB3c.902C>G (p.Pro301Arg)
c.710C>G (p.Pro237Arg)
1g.209630656G=CA1148092501LAMB3c.902C= (p.Pro301=)
c.710C= (p.Pro237=)
1g.209630656G>TCA344593478LAMB3c.902C>A (p.Pro301His)
c.710C>A (p.Pro237His)
1g.209630657G>ACA344593482LAMB3c.901C>T (p.Pro301Ser)
c.709C>T (p.Pro237Ser)
1g.209630657G>CCA344593484LAMB3c.901C>G (p.Pro301Ala)
c.709C>G (p.Pro237Ala)
1g.209630657G>TCA344593487LAMB3c.901C>A (p.Pro301Thr)
c.709C>A (p.Pro237Thr)
1g.209630658C>ACA423032433LAMB3c.900G>T (p.Arg300=)
c.708G>T (p.Arg236=)
1g.209630658C=CA2484301192LAMB3c.900G= (p.Arg300=)
c.708G= (p.Arg236=)
1g.209630658C>GCA423032434LAMB3c.900G>C (p.Arg300=)
c.708G>C (p.Arg236=)
1g.209630658C>TCA423032435LAMB3c.900G>A (p.Arg300=)
c.708G>A (p.Arg236=)
 dbSNP gnomAD v4
1g.209630659C>ACA344593491LAMB3c.899G>T (p.Arg300Leu)
c.707G>T (p.Arg236Leu)
 gnomAD v4
1g.209630659C=CA1144142969LAMB3c.899G= (p.Arg300=)
c.707G= (p.Arg236=)
1g.209630659C>GCA344593493LAMB3c.899G>C (p.Arg300Pro)
c.707G>C (p.Arg236Pro)
1g.209630659C>TCA1375790LAMB3c.899G>A (p.Arg300Gln)
c.707G>A (p.Arg236Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630660G>ACA1375791LAMB3c.898C>T (p.Arg300Trp)
c.706C>T (p.Arg236Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630660G>CCA344593500LAMB3c.898C>G (p.Arg300Gly)
c.706C>G (p.Arg236Gly)
1g.209630660G=CA1143623255LAMB3c.898C= (p.Arg300=)
c.706C= (p.Arg236=)
1g.209630660G>TCA423032436LAMB3c.898C>A (p.Arg300=)
c.706C>A (p.Arg236=)
1g.209630661G>ACA423032437LAMB3c.897C>T (p.Asn299=)
c.705C>T (p.Asn235=)
1g.209630661G>CCA344593502LAMB3c.897C>G (p.Asn299Lys)
c.705C>G (p.Asn235Lys)
1g.209630661G>TCA344593505LAMB3c.897C>A (p.Asn299Lys)
c.705C>A (p.Asn235Lys)
1g.209630662T>ACA344593507LAMB3c.896A>T (p.Asn299Ile)
c.704A>T (p.Asn235Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.209630662T>CCA344593510LAMB3c.896A>G (p.Asn299Ser)
c.704A>G (p.Asn235Ser)
 dbSNP
1g.209630662T>GCA344593512LAMB3c.896A>C (p.Asn299Thr)
c.704A>C (p.Asn235Thr)
1g.209630662T=CA2484301193LAMB3c.896A= (p.Asn299=)
c.704A= (p.Asn235=)
1g.209630663T>ACA344593515LAMB3c.895A>T (p.Asn299Tyr)
c.703A>T (p.Asn235Tyr)
1g.209630663T>CCA344593518LAMB3c.895A>G (p.Asn299Asp)
c.703A>G (p.Asn235Asp)
1g.209630663T>GCA344593520LAMB3c.895A>C (p.Asn299His)
c.703A>C (p.Asn235His)
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)

Number of alleles fetched