Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209633027delCA2650322347LAMB3c.628+45del (n.628+45del)
c.436+45del (n.436+45del)
 gnomAD v4
1g.209633028C>ACA423032717LAMB3c.628+42G>T (n.628+42G>T)
c.436+42G>T (n.436+42G>T)
1g.209633028C=CA1148224947LAMB3c.628+42G= (n.628+42G=)
c.436+42G= (n.436+42G=)
1g.209633028C>GCA423032716LAMB3c.628+42G>C (n.628+42G>C)
c.436+42G>C (n.436+42G>C)
1g.209633028C>TCA257284LAMB3c.628+42G>A (n.628+42G>A)
c.436+42G>A (n.436+42G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209633029C=CA2484302124LAMB3c.628+41G= (n.628+41G=)
c.436+41G= (n.436+41G=)
1g.209633029C>TCA528652932LAMB3c.628+41G>A (n.628+41G>A)
c.436+41G>A (n.436+41G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209633030C>TCA2574124595LAMB3c.628+40G>A (n.628+40G>A)
c.436+40G>A (n.436+40G>A)
 gnomAD v4
1g.209633031A>TCA2650322356LAMB3c.628+39T>A (n.628+39T>A)
c.436+39T>A (n.436+39T>A)
 gnomAD v4
1g.209633032C>ACA2650322358LAMB3c.628+38G>T (n.628+38G>T)
c.436+38G>T (n.436+38G>T)
 gnomAD v4
1g.209633032C=CA2484302125LAMB3c.628+38G= (n.628+38G=)
c.436+38G= (n.436+38G=)
1g.209633032C>TCA1011769670LAMB3c.628+38G>A (n.628+38G>A)
c.436+38G>A (n.436+38G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.209633033C=CA2484302126LAMB3c.628+37G= (n.628+37G=)
c.436+37G= (n.436+37G=)
1g.209633033C>GCA730835760LAMB3c.628+37G>C (n.628+37G>C)
c.436+37G>C (n.436+37G>C)
 dbSNP gnomAD v4
1g.209633033C>TCA2650322364LAMB3c.628+37G>A (n.628+37G>A)
c.436+37G>A (n.436+37G>A)
 gnomAD v4
1g.209633033_209633035delinsCCACA2484302127LAMB3c.628+35_628+37delinsTGG (n.628+35_628+37delinsTGG)
c.436+35_436+37delinsTGG (n.436+35_436+37delinsTGG)
1g.209633034_209633035delCA730835763LAMB3c.628+35_628+36del (n.628+35_628+36del)
c.436+35_436+36del (n.436+35_436+36del)
 dbSNP
1g.209633035A=CA2484302128LAMB3c.628+35T= (n.628+35T=)
c.436+35T= (n.436+35T=)
1g.209633035A>GCA1375893LAMB3c.628+35T>C (n.628+35T>C)
c.436+35T>C (n.436+35T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.209633036T>CCA528652933LAMB3c.628+34A>G (n.628+34A>G)
c.436+34A>G (n.436+34A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209633036T=CA2484302129LAMB3c.628+34A= (n.628+34A=)
c.436+34A= (n.436+34A=)
1g.209633037delCA2530233963LAMB3c.628+33del (n.628+33del)
c.436+33del (n.436+33del)
1g.209633037A=CA2484302130LAMB3c.628+33T= (n.628+33T=)
c.436+33T= (n.436+33T=)
1g.209633037A>GCA2510327778LAMB3c.628+33T>C (n.628+33T>C)
c.436+33T>C (n.436+33T>C)
 gnomAD v4
1g.209633037A>TCA1375894LAMB3c.628+33T>A (n.628+33T>A)
c.436+33T>A (n.436+33T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209633038G>CCA2574124596LAMB3c.628+32C>G (n.628+32C>G)
c.436+32C>G (n.436+32C>G)
 gnomAD v4
1g.209633038G=CA2484302131LAMB3c.628+32C= (n.628+32C=)
c.436+32C= (n.436+32C=)
1g.209633038G>TCA1011769680LAMB3c.628+32C>A (n.628+32C>A)
c.436+32C>A (n.436+32C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.209633039T>ACA2650322379LAMB3c.628+31A>T (n.628+31A>T)
c.436+31A>T (n.436+31A>T)
 gnomAD v4
1g.209633039T>CCA1375895LAMB3c.628+31A>G (n.628+31A>G)
c.436+31A>G (n.436+31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209633039T>GCA2574124597LAMB3c.628+31A>C (n.628+31A>C)
c.436+31A>C (n.436+31A>C)
1g.209633039T=CA1148363526LAMB3c.628+31A= (n.628+31A=)
c.436+31A= (n.436+31A=)
1g.209633040delCA2650322378LAMB3c.628+31del (n.628+31del)
c.436+31del (n.436+31del)
 gnomAD v4
1g.209633040T>CCA2650322385LAMB3c.628+30A>G (n.628+30A>G)
c.436+30A>G (n.436+30A>G)
 gnomAD v4
1g.209633040_209633050delCA2535235200LAMB3c.628+20_628+30del (n.628+20_628+30del)
c.436+20_436+30del (n.436+20_436+30del)
1g.209633041C=CA2484302132LAMB3c.628+29G= (n.628+29G=)
c.436+29G= (n.436+29G=)
1g.209633041C>TCA2484302133LAMB3c.628+29G>A (n.628+29G>A)
c.436+29G>A (n.436+29G>A)
 dbSNP gnomAD v4
1g.209633042C>TCA2650322390LAMB3c.628+28G>A (n.628+28G>A)
c.436+28G>A (n.436+28G>A)
 gnomAD v4
1g.209633043A=CA2484302134LAMB3c.628+27T= (n.628+27T=)
c.436+27T= (n.436+27T=)
1g.209633043A>CCA2574124598LAMB3c.628+27T>G (n.628+27T>G)
c.436+27T>G (n.436+27T>G)
 gnomAD v4
1g.209633043A>GCA1375896LAMB3c.628+27T>C (n.628+27T>C)
c.436+27T>C (n.436+27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209633044T>ACA2484302135LAMB3c.628+26A>T (n.628+26A>T)
c.436+26A>T (n.436+26A>T)
 dbSNP
1g.209633044T>CCA730835772LAMB3c.628+26A>G (n.628+26A>G)
c.436+26A>G (n.436+26A>G)
 dbSNP gnomAD v4
1g.209633044T=CA2484302136LAMB3c.628+26A= (n.628+26A=)
c.436+26A= (n.436+26A=)
1g.209633045G>ACA1011769685LAMB3c.628+25C>T (n.628+25C>T)
c.436+25C>T (n.436+25C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.209633045G=CA2484302138LAMB3c.628+25C= (n.628+25C=)
c.436+25C= (n.436+25C=)
1g.209633045G>TCA2650322402LAMB3c.628+25C>A (n.628+25C>A)
c.436+25C>A (n.436+25C>A)
 gnomAD v4
1g.209633046delCA2650322404LAMB3c.628+25del (n.628+25del)
c.436+25del (n.436+25del)
 gnomAD v4
1g.209633045_209633066delinsGGACAAGAGAAGTAACCACACTCA2484302137LAMB3c.628+4_628+25delinsAGTGTGGTTACTTCTCTTGTCC (n.628+4_628+25delinsAGTGTGGTTACTTCTCTTGTCC)
c.436+4_436+25delinsAGTGTGGTTACTTCTCTTGTCC (n.436+4_436+25delinsAGTGTGGTTACTTCTCTTGTCC)
1g.209633046G>ACA1375897LAMB3c.628+24C>T (n.628+24C>T)
c.436+24C>T (n.436+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209633046G>CCA2484302139LAMB3c.628+24C>G (n.628+24C>G)
c.436+24C>G (n.436+24C>G)
 dbSNP gnomAD v4
1g.209633046G=CA1143200871LAMB3c.628+24C= (n.628+24C=)
c.436+24C= (n.436+24C=)
1g.209633046G>TCA2574124599LAMB3c.628+24C>A (n.628+24C>A)
c.436+24C>A (n.436+24C>A)
 gnomAD v4
1g.209633049_209633069delCA36759878LAMB3c.628+4_628+24del (n.628+4_628+24del)
c.436+4_436+24del (n.436+4_436+24del)
 dbSNP gnomAD v4
1g.209633048C>ACA2650322420LAMB3c.628+22G>T (n.628+22G>T)
c.436+22G>T (n.436+22G>T)
 gnomAD v4
1g.209633048C=CA1143453409LAMB3c.628+22G= (n.628+22G=)
c.436+22G= (n.436+22G=)
1g.209633048C>TCA1375898LAMB3c.628+22G>A (n.628+22G>A)
c.436+22G>A (n.436+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209633049A=CA2484302140LAMB3c.628+21T= (n.628+21T=)
c.436+21T= (n.436+21T=)
1g.209633049A>GCA1375899LAMB3c.628+21T>C (n.628+21T>C)
c.436+21T>C (n.436+21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209633049A>TCA36759884LAMB3c.628+21T>A (n.628+21T>A)
c.436+21T>A (n.436+21T>A)
 dbSNP
1g.209633050delCA2650322425LAMB3c.628+21del (n.628+21del)
c.436+21del (n.436+21del)
 gnomAD v4
1g.209633050A=CA2484302141LAMB3c.628+20T= (n.628+20T=)
c.436+20T= (n.436+20T=)
1g.209633050A>CCA2650322430LAMB3c.628+20T>G (n.628+20T>G)
c.436+20T>G (n.436+20T>G)
 gnomAD v4
1g.209633050_209633051insTGCA916393727LAMB3c.628+19_628+20insCA (n.628+19_628+20insCA)
c.436+19_436+20insCA (n.436+19_436+20insCA)
 dbSNP
1g.209633051G>ACA528652934LAMB3c.628+19C>T (n.628+19C>T)
c.436+19C>T (n.436+19C>T)
 dbSNP gnomAD v2
1g.209633051G=CA2484302142LAMB3c.628+19C= (n.628+19C=)
c.436+19C= (n.436+19C=)
1g.209633051G>TCA2650322436LAMB3c.628+19C>A (n.628+19C>A)
c.436+19C>A (n.436+19C>A)
 gnomAD v4
1g.209633052A>GCA2650322439LAMB3c.628+18T>C (n.628+18T>C)
c.436+18T>C (n.436+18T>C)
 gnomAD v4
1g.209633054A>GCA2650322440LAMB3c.628+16T>C (n.628+16T>C)
c.436+16T>C (n.436+16T>C)
 gnomAD v4
1g.209633056G>ACA2484302144LAMB3c.628+14C>T (n.628+14C>T)
c.436+14C>T (n.436+14C>T)
 dbSNP gnomAD v4
1g.209633056G=CA2484302143LAMB3c.628+14C= (n.628+14C=)
c.436+14C= (n.436+14C=)
1g.209633056_209633057dupCA2650322441LAMB3c.628+13_628+14dup (n.628+13_628+14dup)
c.436+13_436+14dup (n.436+13_436+14dup)
 gnomAD v4
1g.209633058A>GCA2650322442LAMB3c.628+12T>C (n.628+12T>C)
c.436+12T>C (n.436+12T>C)
 gnomAD v4
1g.209633059A>GCA2650322443LAMB3c.628+11T>C (n.628+11T>C)
c.436+11T>C (n.436+11T>C)
 gnomAD v4
1g.209633060C>ACA36759887LAMB3c.628+10G>T (n.628+10G>T)
c.436+10G>T (n.436+10G>T)
 ClinVar dbSNP gnomAD v4
1g.209633060C=CA2484302145LAMB3c.628+10G= (n.628+10G=)
c.436+10G= (n.436+10G=)
1g.209633060C>GCA2573131528LAMB3c.628+10G>C (n.628+10G>C)
c.436+10G>C (n.436+10G>C)
 ClinVar dbSNP gnomAD v4
1g.209633060C>TCA2484302146LAMB3c.628+10G>A (n.628+10G>A)
c.436+10G>A (n.436+10G>A)
 dbSNP
1g.209633061C=CA2484302147LAMB3c.628+9G= (n.628+9G=)
c.436+9G= (n.436+9G=)
1g.209633061C>TCA36759890LAMB3c.628+9G>A (n.628+9G>A)
c.436+9G>A (n.436+9G>A)
 ClinVar dbSNP gnomAD v4
1g.209633062A>TCA2650322459LAMB3c.628+8T>A (n.628+8T>A)
c.436+8T>A (n.436+8T>A)
 gnomAD v4
1g.209633063C>ACA528652935LAMB3c.628+7G>T (n.628+7G>T)
c.436+7G>T (n.436+7G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.209633063C=CA2484302148LAMB3c.628+7G= (n.628+7G=)
c.436+7G= (n.436+7G=)
1g.209633063C>GCA2573131529LAMB3c.628+7G>C (n.628+7G>C)
c.436+7G>C (n.436+7G>C)
 ClinVar dbSNP
1g.209633063C>TCA528652936LAMB3c.628+7G>A (n.628+7G>A)
c.436+7G>A (n.436+7G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209633065C>ACA2650322465LAMB3c.628+5G>T (n.628+5G>T)
c.436+5G>T (n.436+5G>T)
 gnomAD v4
1g.209633065C>GCA913072637LAMB3c.628+5G>C (n.628+5G>C)
c.436+5G>C (n.436+5G>C)
1g.209633065C>TCA2574124600LAMB3c.628+5G>A (n.628+5G>A)
c.436+5G>A (n.436+5G>A)
 gnomAD v4
1g.209633066T>GCA2747563290LAMB3c.628+4A>C (n.628+4A>C)
c.436+4A>C (n.436+4A>C)
1g.209633067G>TCA2650322468LAMB3c.628+3C>A (n.628+3C>A)
c.436+3C>A (n.436+3C>A)
 gnomAD v4
1g.209633068A=CA2484302149LAMB3c.628+2T= (n.628+2T=)
c.436+2T= (n.436+2T=)
1g.209633068A>CCA344594856LAMB3c.628+2T>G (n.628+2T>G)
c.436+2T>G (n.436+2T>G)
1g.209633068A>GCA344594857LAMB3c.628+2T>C (n.628+2T>C)
c.436+2T>C (n.436+2T>C)
1g.209633068A>TCA344594858LAMB3c.628+2T>A (n.628+2T>A)
c.436+2T>A (n.436+2T>A)
 ClinVar dbSNP
1g.209633069C>ACA344594859LAMB3c.628+1G>T (n.628+1G>T)
c.436+1G>T (n.436+1G>T)
 dbSNP
1g.209633069C=CA2484302150LAMB3c.628+1G= (n.628+1G=)
c.436+1G= (n.436+1G=)
1g.209633069C>GCA344594860LAMB3c.628+1G>C (n.628+1G>C)
c.436+1G>C (n.436+1G>C)
1g.209633069C>TCA16040701LAMB3c.628+1G>A (n.628+1G>A)
c.436+1G>A (n.436+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209633070C>ACA344594862LAMB3c.628G>T (p.Glu210Ter)
c.436G>T (p.Glu146Ter)
 COSMIC
1g.209633070C=CA1141581386LAMB3c.628G= (p.Glu210=)
c.436G= (p.Glu146=)
1g.209633070C>GCA344594861LAMB3c.628G>C (p.Glu210Gln)
c.436G>C (p.Glu146Gln)
1g.209633070C>TCA257275LAMB3c.628G>A (p.Glu210Lys)
c.436G>A (p.Glu146Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209633071T>ACA344594863LAMB3c.627A>T (p.Gln209His)
c.435A>T (p.Gln145His)
1g.209633071T>CCA423032718LAMB3c.627A>G (p.Gln209=)
c.435A>G (p.Gln145=)
1g.209633071T>GCA344594864LAMB3c.627A>C (p.Gln209His)
c.435A>C (p.Gln145His)
1g.209633072T>ACA344594865LAMB3c.626A>T (p.Gln209Leu)
c.434A>T (p.Gln145Leu)
1g.209633072T>CCA344594866LAMB3c.626A>G (p.Gln209Arg)
c.434A>G (p.Gln145Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.209633072T>GCA344594867LAMB3c.626A>C (p.Gln209Pro)
c.434A>C (p.Gln145Pro)
1g.209633072T=CA2484302151LAMB3c.626A= (p.Gln209=)
c.434A= (p.Gln145=)
1g.209633073G>ACA344594868LAMB3c.625C>T (p.Gln209Ter)
c.433C>T (p.Gln145Ter)
 gnomAD v4
1g.209633073G>CCA344594869LAMB3c.625C>G (p.Gln209Glu)
c.433C>G (p.Gln145Glu)
1g.209633073G=CA2484302152LAMB3c.625C= (p.Gln209=)
c.433C= (p.Gln145=)
1g.209633073G>TCA344594870LAMB3c.625C>A (p.Gln209Lys)
c.433C>A (p.Gln145Lys)
 dbSNP gnomAD v4
1g.209633074A>CCA344594871LAMB3c.624T>G (p.Ile208Met)
c.432T>G (p.Ile144Met)
1g.209633074A>GCA423032719LAMB3c.624T>C (p.Ile208=)
c.432T>C (p.Ile144=)
1g.209633074A>TCA423032720LAMB3c.624T>A (p.Ile208=)
c.432T>A (p.Ile144=)
1g.209633075A>CCA344594872LAMB3c.623T>G (p.Ile208Ser)
c.431T>G (p.Ile144Ser)
1g.209633075A>GCA344594873LAMB3c.623T>C (p.Ile208Thr)
c.431T>C (p.Ile144Thr)
1g.209633075A>TCA344594874LAMB3c.623T>A (p.Ile208Asn)
c.431T>A (p.Ile144Asn)
1g.209633075_209633076delinsATCA2484302153LAMB3c.622_623delinsAT (p.Ile208=)
c.430_431delinsAT (p.Ile144=)
1g.209633076T>ACA344594875LAMB3c.622A>T (p.Ile208Phe)
c.430A>T (p.Ile144Phe)
 gnomAD v4
1g.209633076T>CCA344594876LAMB3c.622A>G (p.Ile208Val)
c.430A>G (p.Ile144Val)
 gnomAD v4
1g.209633076T>GCA344594877LAMB3c.622A>C (p.Ile208Leu)
c.430A>C (p.Ile144Leu)
1g.209633081delCA1375900LAMB3c.622del (p.Ile208PhefsTer10)
c.430del (p.Ile144PhefsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209633077T>ACA344594879LAMB3c.621A>T (p.Lys207Asn)
c.429A>T (p.Lys143Asn)
1g.209633077T>CCA423032721LAMB3c.621A>G (p.Lys207=)
c.429A>G (p.Lys143=)
1g.209633077T>GCA344594878LAMB3c.621A>C (p.Lys207Asn)
c.429A>C (p.Lys143Asn)
1g.209633078T>ACA344594880LAMB3c.620A>T (p.Lys207Ile)
c.428A>T (p.Lys143Ile)
1g.209633078T>CCA344594881LAMB3c.620A>G (p.Lys207Arg)
c.428A>G (p.Lys143Arg)
1g.209633078T>GCA344594882LAMB3c.620A>C (p.Lys207Thr)
c.428A>C (p.Lys143Thr)
1g.209633079T>ACA344594883LAMB3c.619A>T (p.Lys207Ter)
c.427A>T (p.Lys143Ter)
1g.209633079T>CCA344594884LAMB3c.619A>G (p.Lys207Glu)
c.427A>G (p.Lys143Glu)
1g.209633079T>GCA257287LAMB3c.619A>C (p.Lys207Gln)
c.427A>C (p.Lys143Gln)
 ClinVar dbSNP
1g.209633079T=CA1141581387LAMB3c.619A= (p.Lys207=)
c.427A= (p.Lys143=)
1g.209633080T>ACA344594885LAMB3c.618A>T (p.Gln206His)
c.426A>T (p.Gln142His)
1g.209633080T>CCA423032722LAMB3c.618A>G (p.Gln206=)
c.426A>G (p.Gln142=)
1g.209633080T>GCA344594886LAMB3c.618A>C (p.Gln206His)
c.426A>C (p.Gln142His)
1g.209633081T>ACA344594887LAMB3c.617A>T (p.Gln206Leu)
c.425A>T (p.Gln142Leu)
1g.209633081T>CCA344594888LAMB3c.617A>G (p.Gln206Arg)
c.425A>G (p.Gln142Arg)
1g.209633081T>GCA344594889LAMB3c.617A>C (p.Gln206Pro)
c.425A>C (p.Gln142Pro)
1g.209633082G>ACA1375901LAMB3c.616C>T (p.Gln206Ter)
c.424C>T (p.Gln142Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209633082G>CCA344594890LAMB3c.616C>G (p.Gln206Glu)
c.424C>G (p.Gln142Glu)
1g.209633082G=CA2484302154LAMB3c.616C= (p.Gln206=)
c.424C= (p.Gln142=)
1g.209633082G>TCA36759899LAMB3c.616C>A (p.Gln206Lys)
c.424C>A (p.Gln142Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209633083A>CCA344594891LAMB3c.615T>G (p.Ser205Arg)
c.423T>G (p.Ser141Arg)
1g.209633083A>GCA423032723LAMB3c.615T>C (p.Ser205=)
c.423T>C (p.Ser141=)
1g.209633083A>TCA344594892LAMB3c.615T>A (p.Ser205Arg)
c.423T>A (p.Ser141Arg)
1g.209633084C>ACA344594893LAMB3c.614G>T (p.Ser205Ile)
c.422G>T (p.Ser141Ile)
1g.209633084C=CA1148879133LAMB3c.614G= (p.Ser205=)
c.422G= (p.Ser141=)
1g.209633084C>GCA1375902LAMB3c.614G>C (p.Ser205Thr)
c.422G>C (p.Ser141Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209633084C>TCA344594894LAMB3c.614G>A (p.Ser205Asn)
c.422G>A (p.Ser141Asn)
1g.209633085T>ACA344594895LAMB3c.613A>T (p.Ser205Cys)
c.421A>T (p.Ser141Cys)
1g.209633085T>CCA344594896LAMB3c.613A>G (p.Ser205Gly)
c.421A>G (p.Ser141Gly)
 gnomAD v4
1g.209633085T>GCA344594897LAMB3c.613A>C (p.Ser205Arg)
c.421A>C (p.Ser141Arg)
1g.209633087dupCA2739275562LAMB3c.613dup (p.Ser205LysfsTer?)
c.421dup (p.Ser141LysfsTer?)
 ClinVar
1g.209633086T>ACA344594898LAMB3c.612A>T (p.Gln204His)
c.420A>T (p.Gln140His)
 gnomAD v4
1g.209633086T>CCA1375903LAMB3c.612A>G (p.Gln204=)
c.420A>G (p.Gln140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209633086T>GCA344594899LAMB3c.612A>C (p.Gln204His)
c.420A>C (p.Gln140His)
1g.209633086T=CA2484302155LAMB3c.612A= (p.Gln204=)
c.420A= (p.Gln140=)
1g.209633087T>ACA344594900LAMB3c.611A>T (p.Gln204Leu)
c.419A>T (p.Gln140Leu)
1g.209633087T>CCA1375904LAMB3c.611A>G (p.Gln204Arg)
c.419A>G (p.Gln140Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209633087T>GCA344594901LAMB3c.611A>C (p.Gln204Pro)
c.419A>C (p.Gln140Pro)
1g.209633087T=CA2484302156LAMB3c.611A= (p.Gln204=)
c.419A= (p.Gln140=)
1g.209633088G>ACA344594902LAMB3c.610C>T (p.Gln204Ter)
c.418C>T (p.Gln140Ter)
1g.209633088G>CCA344594903LAMB3c.610C>G (p.Gln204Glu)
c.418C>G (p.Gln140Glu)
 dbSNP gnomAD v4
1g.209633088G=CA2484302157LAMB3c.610C= (p.Gln204=)
c.418C= (p.Gln140=)
1g.209633088G>TCA36759906LAMB3c.610C>A (p.Gln204Lys)
c.418C>A (p.Gln140Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.209633089A=CA2484302158LAMB3c.609T= (p.Thr203=)
c.417T= (p.Thr139=)
1g.209633089A>CCA423032725LAMB3c.609T>G (p.Thr203=)
c.417T>G (p.Thr139=)
1g.209633089A>GCA423032726LAMB3c.609T>C (p.Thr203=)
c.417T>C (p.Thr139=)
1g.209633089A>TCA423032724LAMB3c.609T>A (p.Thr203=)
c.417T>A (p.Thr139=)
 ClinVar dbSNP gnomAD v4
1g.209633090G>ACA344594904LAMB3c.608C>T (p.Thr203Ile)
c.416C>T (p.Thr139Ile)
1g.209633090G>CCA344594905LAMB3c.608C>G (p.Thr203Ser)
c.416C>G (p.Thr139Ser)
1g.209633090G>TCA344594906LAMB3c.608C>A (p.Thr203Asn)
c.416C>A (p.Thr139Asn)
1g.209633091T>ACA344594907LAMB3c.607A>T (p.Thr203Ser)
c.415A>T (p.Thr139Ser)
1g.209633091T>CCA344594908LAMB3c.607A>G (p.Thr203Ala)
c.415A>G (p.Thr139Ala)
 gnomAD v4
1g.209633091T>GCA344594909LAMB3c.607A>C (p.Thr203Pro)
c.415A>C (p.Thr139Pro)
1g.209633092T>ACA423032727LAMB3c.606A>T (p.Ala202=)
c.414A>T (p.Ala138=)
1g.209633092T>CCA423032728LAMB3c.606A>G (p.Ala202=)
c.414A>G (p.Ala138=)
1g.209633092T>GCA423032729LAMB3c.606A>C (p.Ala202=)
c.414A>C (p.Ala138=)
1g.209633093G>ACA344594910LAMB3c.605C>T (p.Ala202Val)
c.413C>T (p.Ala138Val)
 gnomAD v4 COSMIC
1g.209633093G>CCA344594911LAMB3c.605C>G (p.Ala202Gly)
c.413C>G (p.Ala138Gly)
1g.209633093G=CA2484302159LAMB3c.605C= (p.Ala202=)
c.413C= (p.Ala138=)
1g.209633093G>TCA344594912LAMB3c.605C>A (p.Ala202Glu)
c.413C>A (p.Ala138Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.209633094delCA2586967990LAMB3c.604del (p.Ala202GlnfsTer16)
c.412del (p.Ala138GlnfsTer16)
1g.209633094C>ACA344594913LAMB3c.604G>T (p.Ala202Ser)
c.412G>T (p.Ala138Ser)
1g.209633094C>GCA344594914LAMB3c.604G>C (p.Ala202Pro)
c.412G>C (p.Ala138Pro)
1g.209633094C>TCA344594915LAMB3c.604G>A (p.Ala202Thr)
c.412G>A (p.Ala138Thr)
1g.209633095T>ACA423032731LAMB3c.603A>T (p.Pro201=)
c.411A>T (p.Pro137=)
1g.209633095T>CCA423032732LAMB3c.603A>G (p.Pro201=)
c.411A>G (p.Pro137=)
1g.209633095T>GCA423032733LAMB3c.603A>C (p.Pro201=)
c.411A>C (p.Pro137=)
1g.209633096G>ACA344594918LAMB3c.602C>T (p.Pro201Leu)
c.410C>T (p.Pro137Leu)
 gnomAD v4
1g.209633096G>CCA344594916LAMB3c.602C>G (p.Pro201Arg)
c.410C>G (p.Pro137Arg)
1g.209633096G>TCA344594917LAMB3c.602C>A (p.Pro201Gln)
c.410C>A (p.Pro137Gln)
1g.209633097G>ACA344594919LAMB3c.601C>T (p.Pro201Ser)
c.409C>T (p.Pro137Ser)
1g.209633097G>CCA344594920LAMB3c.601C>G (p.Pro201Ala)
c.409C>G (p.Pro137Ala)
1g.209633097G>TCA344594921LAMB3c.601C>A (p.Pro201Thr)
c.409C>A (p.Pro137Thr)
1g.209633098A>CCA344594922LAMB3c.600T>G (p.Ile200Met)
c.408T>G (p.Ile136Met)
1g.209633098A>GCA423032734LAMB3c.600T>C (p.Ile200=)
c.408T>C (p.Ile136=)
1g.209633098A>TCA423032735LAMB3c.600T>A (p.Ile200=)
c.408T>A (p.Ile136=)
1g.209633099A>CCA344594923LAMB3c.599T>G (p.Ile200Ser)
c.407T>G (p.Ile136Ser)
1g.209633099A>GCA344594924LAMB3c.599T>C (p.Ile200Thr)
c.407T>C (p.Ile136Thr)
1g.209633099A>TCA344594925LAMB3c.599T>A (p.Ile200Asn)
c.407T>A (p.Ile136Asn)
1g.209633100T>ACA344594926LAMB3c.598A>T (p.Ile200Phe)
c.406A>T (p.Ile136Phe)
1g.209633100T>CCA344594927LAMB3c.598A>G (p.Ile200Val)
c.406A>G (p.Ile136Val)
 gnomAD v4
1g.209633100T>GCA344594928LAMB3c.598A>C (p.Ile200Leu)
c.406A>C (p.Ile136Leu)
1g.209633101C>ACA1375905LAMB3c.597G>T (p.Gly199=)
c.405G>T (p.Gly135=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209633101C=CA1143903825LAMB3c.597G= (p.Gly199=)
c.405G= (p.Gly135=)
1g.209633101C>GCA423032736LAMB3c.597G>C (p.Gly199=)
c.405G>C (p.Gly135=)
1g.209633101C>TCA423032737LAMB3c.597G>A (p.Gly199=)
c.405G>A (p.Gly135=)
1g.209633102C>ACA344594930LAMB3c.596G>T (p.Gly199Val)
c.404G>T (p.Gly135Val)
1g.209633102C=CA1141581388LAMB3c.596G= (p.Gly199=)
c.404G= (p.Gly135=)
1g.209633102C>GCA257285LAMB3c.596G>C (p.Gly199Ala)
c.404G>C (p.Gly135Ala)
 ClinVar dbSNP gnomAD v4
1g.209633102C>TCA344594929LAMB3c.596G>A (p.Gly199Glu)
c.404G>A (p.Gly135Glu)
 COSMIC
1g.209633103C>ACA344594931LAMB3c.595G>T (p.Gly199Trp)
c.403G>T (p.Gly135Trp)
 gnomAD v4
1g.209633103C=CA2484302160LAMB3c.595G= (p.Gly199=)
c.403G= (p.Gly135=)
1g.209633103C>GCA344594933LAMB3c.595G>C (p.Gly199Arg)
c.403G>C (p.Gly135Arg)
1g.209633103C>TCA344594932LAMB3c.595G>A (p.Gly199Arg)
c.403G>A (p.Gly135Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209633104A=CA2484302161LAMB3c.594T= (p.Ser198=)
c.402T= (p.Ser134=)
1g.209633104A>CCA423032738LAMB3c.594T>G (p.Ser198=)
c.402T>G (p.Ser134=)
1g.209633104A>GCA423032739LAMB3c.594T>C (p.Ser198=)
c.402T>C (p.Ser134=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209633104A>TCA423032740LAMB3c.594T>A (p.Ser198=)
c.402T>A (p.Ser134=)
 dbSNP
1g.209633105G>ACA344594934LAMB3c.593C>T (p.Ser198Phe)
c.401C>T (p.Ser134Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.209633105G>CCA344594935LAMB3c.593C>G (p.Ser198Cys)
c.401C>G (p.Ser134Cys)
 gnomAD v4
1g.209633105G=CA2484302162LAMB3c.593C= (p.Ser198=)
c.401C= (p.Ser134=)
1g.209633105G>TCA344594936LAMB3c.593C>A (p.Ser198Tyr)
c.401C>A (p.Ser134Tyr)
1g.209633106A=CA2484302163LAMB3c.592T= (p.Ser198=)
c.400T= (p.Ser134=)
1g.209633106A>CCA344594937LAMB3c.592T>G (p.Ser198Ala)
c.400T>G (p.Ser134Ala)
1g.209633106A>GCA344594938LAMB3c.592T>C (p.Ser198Pro)
c.400T>C (p.Ser134Pro)
 dbSNP
1g.209633106A>TCA344594939LAMB3c.592T>A (p.Ser198Thr)
c.400T>A (p.Ser134Thr)
1g.209633107C>ACA423032741LAMB3c.591G>T (p.Val197=)
c.399G>T (p.Val133=)
1g.209633107C=CA2484302164LAMB3c.591G= (p.Val197=)
c.399G= (p.Val133=)
1g.209633107C>GCA423032742LAMB3c.591G>C (p.Val197=)
c.399G>C (p.Val133=)
 ClinVar gnomAD v4
1g.209633107C>TCA423032743LAMB3c.591G>A (p.Val197=)
c.399G>A (p.Val133=)
 dbSNP
1g.209633108A=CA2484302165LAMB3c.590T= (p.Val197=)
c.398T= (p.Val133=)
1g.209633108A>CCA344594940LAMB3c.590T>G (p.Val197Gly)
c.398T>G (p.Val133Gly)
1g.209633108A>GCA344594941LAMB3c.590T>C (p.Val197Ala)
c.398T>C (p.Val133Ala)
 dbSNP
1g.209633108A>TCA1375906LAMB3c.590T>A (p.Val197Glu)
c.398T>A (p.Val133Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209633109C>ACA344594942LAMB3c.589G>T (p.Val197Leu)
c.397G>T (p.Val133Leu)
1g.209633109C>GCA344594943LAMB3c.589G>C (p.Val197Leu)
c.397G>C (p.Val133Leu)
1g.209633109C>TCA344594944LAMB3c.589G>A (p.Val197Met)
c.397G>A (p.Val133Met)
1g.209633110T>ACA344594945LAMB3c.588A>T (p.Leu196Phe)
c.396A>T (p.Leu132Phe)
1g.209633110T>CCA423032744LAMB3c.588A>G (p.Leu196=)
c.396A>G (p.Leu132=)
1g.209633110T>GCA344594946LAMB3c.588A>C (p.Leu196Phe)
c.396A>C (p.Leu132Phe)
1g.209633111A>CCA344594947LAMB3c.587T>G (p.Leu196Ter)
c.395T>G (p.Leu132Ter)
 gnomAD v4
1g.209633111A>GCA344594948LAMB3c.587T>C (p.Leu196Ser)
c.395T>C (p.Leu132Ser)
1g.209633111A>TCA344594949LAMB3c.587T>A (p.Leu196Ter)
c.395T>A (p.Leu132Ter)
1g.209633113delCA2574124601LAMB3c.587del (p.Leu196Ter)
c.395del (p.Leu132Ter)
1g.209633112A>CCA344594950LAMB3c.586T>G (p.Leu196Val)
c.394T>G (p.Leu132Val)
1g.209633112A>GCA423032745LAMB3c.586T>C (p.Leu196=)
c.394T>C (p.Leu132=)
1g.209633112A>TCA344594951LAMB3c.586T>A (p.Leu196Ile)
c.394T>A (p.Leu132Ile)
1g.209633113A>CCA344594952LAMB3c.585T>G (p.Asp195Glu)
c.393T>G (p.Asp131Glu)
1g.209633113A>GCA423032746LAMB3c.585T>C (p.Asp195=)
c.393T>C (p.Asp131=)
1g.209633113A>TCA344594953LAMB3c.585T>A (p.Asp195Glu)
c.393T>A (p.Asp131Glu)
1g.209633114T>ACA344594954LAMB3c.584A>T (p.Asp195Val)
c.392A>T (p.Asp131Val)
1g.209633114T>CCA344594955LAMB3c.584A>G (p.Asp195Gly)
c.392A>G (p.Asp131Gly)
 gnomAD v4
1g.209633114T>GCA344594956LAMB3c.584A>C (p.Asp195Ala)
c.392A>C (p.Asp131Ala)
1g.209633115C>ACA36759909LAMB3c.583G>T (p.Asp195Tyr)
c.391G>T (p.Asp131Tyr)
 dbSNP gnomAD v4
1g.209633115C=CA1149051270LAMB3c.583G= (p.Asp195=)
c.391G= (p.Asp131=)
1g.209633115C>GCA344594957LAMB3c.583G>C (p.Asp195His)
c.391G>C (p.Asp131His)
1g.209633115C>TCA344594958LAMB3c.583G>A (p.Asp195Asn)
c.391G>A (p.Asp131Asn)
1g.209633116C>ACA1375907LAMB3c.582G>T (p.Met194Ile)
c.390G>T (p.Met130Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209633116C=CA1140965772LAMB3c.582G= (p.Met194=)
c.390G= (p.Met130=)
1g.209633116C>GCA344594960LAMB3c.582G>C (p.Met194Ile)
c.390G>C (p.Met130Ile)
1g.209633116C>TCA344594959LAMB3c.582G>A (p.Met194Ile)
c.390G>A (p.Met130Ile)
1g.209633117A=CA2484302166LAMB3c.581T= (p.Met194=)
c.389T= (p.Met130=)
1g.209633117A>CCA344594961LAMB3c.581T>G (p.Met194Arg)
c.389T>G (p.Met130Arg)
1g.209633117A>GCA344594962LAMB3c.581T>C (p.Met194Thr)
c.389T>C (p.Met130Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.209633117A>TCA344594963LAMB3c.581T>A (p.Met194Lys)
c.389T>A (p.Met130Lys)
1g.209633118T>ACA344594964LAMB3c.580A>T (p.Met194Leu)
c.388A>T (p.Met130Leu)
1g.209633118T>CCA344594965LAMB3c.580A>G (p.Met194Val)
c.388A>G (p.Met130Val)
 dbSNP
1g.209633118T>GCA344594966LAMB3c.580A>C (p.Met194Leu)
c.388A>C (p.Met130Leu)
1g.209633118T=CA2484302167LAMB3c.580A= (p.Met194=)
c.388A= (p.Met130=)
1g.209633119A=CA2484302168LAMB3c.579T= (p.Leu193=)
c.387T= (p.Leu129=)
1g.209633119A>CCA423032747LAMB3c.579T>G (p.Leu193=)
c.387T>G (p.Leu129=)
1g.209633119A>GCA36759912LAMB3c.579T>C (p.Leu193=)
c.387T>C (p.Leu129=)
 ClinVar dbSNP
1g.209633119A>TCA423032748LAMB3c.579T>A (p.Leu193=)
c.387T>A (p.Leu129=)
1g.209633120A=CA2484302169LAMB3c.578T= (p.Leu193=)
c.386T= (p.Leu129=)
1g.209633120A>CCA1375908LAMB3c.578T>G (p.Leu193Arg)
c.386T>G (p.Leu129Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209633120A>GCA344594967LAMB3c.578T>C (p.Leu193Pro)
c.386T>C (p.Leu129Pro)
1g.209633120A>TCA344594968LAMB3c.578T>A (p.Leu193His)
c.386T>A (p.Leu129His)
1g.209633121G>ACA344594969LAMB3c.577C>T (p.Leu193Phe)
c.385C>T (p.Leu129Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209633121G>CCA344594970LAMB3c.577C>G (p.Leu193Val)
c.385C>G (p.Leu129Val)
1g.209633121G=CA2484302170LAMB3c.577C= (p.Leu193=)
c.385C= (p.Leu129=)
1g.209633121G>TCA344594971LAMB3c.577C>A (p.Leu193Ile)
c.385C>A (p.Leu129Ile)
1g.209633122G>ACA1375909LAMB3c.576C>T (p.Asn192=)
c.384C>T (p.Asn128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209633122G>CCA344594972LAMB3c.576C>G (p.Asn192Lys)
c.384C>G (p.Asn128Lys)
1g.209633122G=CA2484302171LAMB3c.576C= (p.Asn192=)
c.384C= (p.Asn128=)
1g.209633122G>TCA344594973LAMB3c.576C>A (p.Asn192Lys)
c.384C>A (p.Asn128Lys)
1g.209633123T>ACA344594974LAMB3c.575A>T (p.Asn192Ile)
c.383A>T (p.Asn128Ile)
1g.209633123T>CCA344594975LAMB3c.575A>G (p.Asn192Ser)
c.383A>G (p.Asn128Ser)
1g.209633123T>GCA344594976LAMB3c.575A>C (p.Asn192Thr)
c.383A>C (p.Asn128Thr)
1g.209633124T>ACA344594977LAMB3c.574A>T (p.Asn192Tyr)
c.382A>T (p.Asn128Tyr)
1g.209633124T>CCA344594978LAMB3c.574A>G (p.Asn192Asp)
c.382A>G (p.Asn128Asp)
1g.209633124T>GCA344594979LAMB3c.574A>C (p.Asn192His)
c.382A>C (p.Asn128His)
1g.209633125A=CA2484302172LAMB3c.573T= (p.Leu191=)
c.381T= (p.Leu127=)
1g.209633125A>CCA423032749LAMB3c.573T>G (p.Leu191=)
c.381T>G (p.Leu127=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209633125A>GCA423032750LAMB3c.573T>C (p.Leu191=)
c.381T>C (p.Leu127=)
1g.209633125A>TCA423032751LAMB3c.573T>A (p.Leu191=)
c.381T>A (p.Leu127=)
1g.209633126A>CCA344594980LAMB3c.572T>G (p.Leu191Arg)
c.380T>G (p.Leu127Arg)
1g.209633126A>GCA344594981LAMB3c.572T>C (p.Leu191Pro)
c.380T>C (p.Leu127Pro)
1g.209633126A>TCA344594982LAMB3c.572T>A (p.Leu191His)
c.380T>A (p.Leu127His)
1g.209633127G>ACA344594983LAMB3c.571C>T (p.Leu191Phe)
c.379C>T (p.Leu127Phe)
1g.209633127G>CCA344594984LAMB3c.571C>G (p.Leu191Val)
c.379C>G (p.Leu127Val)
1g.209633127G>TCA344594985LAMB3c.571C>A (p.Leu191Ile)
c.379C>A (p.Leu127Ile)

Number of alleles fetched