Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209617922C>ACA344584665LAMB3c.3036G>T (p.Gln1012His)
c.243G>T (p.Gln81His)
c.2844G>T (p.Gln948His)
1g.209617922C>GCA344584663LAMB3c.3036G>C (p.Gln1012His)
c.243G>C (p.Gln81His)
c.2844G>C (p.Gln948His)
1g.209617922C>TCA423029678LAMB3c.3036G>A (p.Gln1012=)
c.243G>A (p.Gln81=)
c.2844G>A (p.Gln948=)
1g.209617923T>ACA344584668LAMB3c.3035A>T (p.Gln1012Leu)
c.242A>T (p.Gln81Leu)
c.2843A>T (p.Gln948Leu)
1g.209617923T>CCA344584670LAMB3c.3035A>G (p.Gln1012Arg)
c.242A>G (p.Gln81Arg)
c.2843A>G (p.Gln948Arg)
 dbSNP
1g.209617923T>GCA344584673LAMB3c.3035A>C (p.Gln1012Pro)
c.242A>C (p.Gln81Pro)
c.2843A>C (p.Gln948Pro)
1g.209617923T=CA2484296053LAMB3c.3035A= (p.Gln1012=)
c.242A= (p.Gln81=)
c.2843A= (p.Gln948=)
1g.209617924G>ACA16040689LAMB3c.3034C>T (p.Gln1012Ter)
c.241C>T (p.Gln81Ter)
c.2842C>T (p.Gln948Ter)
 ClinVar dbSNP
1g.209617924G>CCA344584684LAMB3c.3034C>G (p.Gln1012Glu)
c.241C>G (p.Gln81Glu)
c.2842C>G (p.Gln948Glu)
1g.209617924G=CA2484296054LAMB3c.3034C= (p.Gln1012=)
c.241C= (p.Gln81=)
c.2842C= (p.Gln948=)
1g.209617924G>TCA344584686LAMB3c.3034C>A (p.Gln1012Lys)
c.241C>A (p.Gln81Lys)
c.2842C>A (p.Gln948Lys)
1g.209617925delCA2580061985LAMB3c.3034del (p.Gln1012ArgfsTer18)
c.241del (p.Gln81ArgfsTer18)
c.2842del (p.Gln948ArgfsTer18)
 ClinVar
1g.209617925G>ACA423029682LAMB3c.3033C>T (p.Ile1011=)
c.240C>T (p.Ile80=)
c.2841C>T (p.Ile947=)
1g.209617925G>CCA344584689LAMB3c.3033C>G (p.Ile1011Met)
c.240C>G (p.Ile80Met)
c.2841C>G (p.Ile947Met)
1g.209617925G>TCA423029683LAMB3c.3033C>A (p.Ile1011=)
c.240C>A (p.Ile80=)
c.2841C>A (p.Ile947=)
1g.209617926A>CCA344584690LAMB3c.3032T>G (p.Ile1011Ser)
c.239T>G (p.Ile80Ser)
c.2840T>G (p.Ile947Ser)
1g.209617926A>GCA344584691LAMB3c.3032T>C (p.Ile1011Thr)
c.239T>C (p.Ile80Thr)
c.2840T>C (p.Ile947Thr)
1g.209617926A>TCA344584692LAMB3c.3032T>A (p.Ile1011Asn)
c.239T>A (p.Ile80Asn)
c.2840T>A (p.Ile947Asn)
 gnomAD v4
1g.209617927T>ACA344584693LAMB3c.3031A>T (p.Ile1011Phe)
c.238A>T (p.Ile80Phe)
c.2839A>T (p.Ile947Phe)
1g.209617927T>CCA344584694LAMB3c.3031A>G (p.Ile1011Val)
c.238A>G (p.Ile80Val)
c.2839A>G (p.Ile947Val)
1g.209617927T>GCA344584695LAMB3c.3031A>C (p.Ile1011Leu)
c.238A>C (p.Ile80Leu)
c.2839A>C (p.Ile947Leu)
1g.209617928A=CA2484296055LAMB3c.3030T= (p.Leu1010=)
c.237T= (p.Leu79=)
c.2838T= (p.Leu946=)
1g.209617928A>CCA423029685LAMB3c.3030T>G (p.Leu1010=)
c.237T>G (p.Leu79=)
c.2838T>G (p.Leu946=)
1g.209617928A>GCA1375009LAMB3c.3030T>C (p.Leu1010=)
c.237T>C (p.Leu79=)
c.2838T>C (p.Leu946=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617928A>TCA423029686LAMB3c.3030T>A (p.Leu1010=)
c.237T>A (p.Leu79=)
c.2838T>A (p.Leu946=)
1g.209617929A>CCA344584698LAMB3c.3029T>G (p.Leu1010Arg)
c.236T>G (p.Leu79Arg)
c.2837T>G (p.Leu946Arg)
1g.209617929A>GCA344584697LAMB3c.3029T>C (p.Leu1010Pro)
c.236T>C (p.Leu79Pro)
c.2837T>C (p.Leu946Pro)
1g.209617929A>TCA344584696LAMB3c.3029T>A (p.Leu1010His)
c.236T>A (p.Leu79His)
c.2837T>A (p.Leu946His)
1g.209617930G>ACA344584700LAMB3c.3028C>T (p.Leu1010Phe)
c.235C>T (p.Leu79Phe)
c.2836C>T (p.Leu946Phe)
1g.209617930G>CCA344584699LAMB3c.3028C>G (p.Leu1010Val)
c.235C>G (p.Leu79Val)
c.2836C>G (p.Leu946Val)
1g.209617930G>TCA344584701LAMB3c.3028C>A (p.Leu1010Ile)
c.235C>A (p.Leu79Ile)
c.2836C>A (p.Leu946Ile)
1g.209617931C>ACA423029692LAMB3c.3027G>T (p.Arg1009=)
c.234G>T (p.Arg78=)
c.2835G>T (p.Arg945=)
1g.209617931C>GCA423029693LAMB3c.3027G>C (p.Arg1009=)
c.234G>C (p.Arg78=)
c.2835G>C (p.Arg945=)
1g.209617931C>TCA423029694LAMB3c.3027G>A (p.Arg1009=)
c.234G>A (p.Arg78=)
c.2835G>A (p.Arg945=)
1g.209617932C>ACA36749836LAMB3c.3026G>T (p.Arg1009Leu)
c.233G>T (p.Arg78Leu)
c.2834G>T (p.Arg945Leu)
 ClinVar dbSNP
1g.209617932C=CA2484296056LAMB3c.3026G= (p.Arg1009=)
c.233G= (p.Arg78=)
c.2834G= (p.Arg945=)
1g.209617932C>GCA344584702LAMB3c.3026G>C (p.Arg1009Pro)
c.233G>C (p.Arg78Pro)
c.2834G>C (p.Arg945Pro)
1g.209617932C>TCA1375010LAMB3c.3026G>A (p.Arg1009Gln)
c.233G>A (p.Arg78Gln)
c.2834G>A (p.Arg945Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617933G>ACA1375013LAMB3c.3025C>T (p.Arg1009Trp)
c.232C>T (p.Arg78Trp)
c.2833C>T (p.Arg945Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617933G>CCA1375012LAMB3c.3025C>G (p.Arg1009Gly)
c.232C>G (p.Arg78Gly)
c.2833C>G (p.Arg945Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617933G=CA2484296057LAMB3c.3025C= (p.Arg1009=)
c.232C= (p.Arg78=)
c.2833C= (p.Arg945=)
1g.209617933G>TCA423029698LAMB3c.3025C>A (p.Arg1009=)
c.232C>A (p.Arg78=)
c.2833C>A (p.Arg945=)
 gnomAD v4
1g.209617933_209617934delinsGACA2484296058LAMB3c.3024_3025delinsTC (p.Leu1008=)
c.231_232delinsTC (p.Leu77=)
c.2832_2833delinsTC (p.Leu944=)
1g.209617934A>CCA423029701LAMB3c.3024T>G (p.Leu1008=)
c.231T>G (p.Leu77=)
c.2832T>G (p.Leu944=)
1g.209617934A>GCA423029700LAMB3c.3024T>C (p.Leu1008=)
c.231T>C (p.Leu77=)
c.2832T>C (p.Leu944=)
1g.209617934A>TCA423029699LAMB3c.3024T>A (p.Leu1008=)
c.231T>A (p.Leu77=)
c.2832T>A (p.Leu944=)
1g.209617935delCA1375011LAMB3c.3024del (p.Arg1009GlyfsTer21)
c.231del (p.Arg78GlyfsTer21)
c.2832del (p.Arg945GlyfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617935A>CCA344584703LAMB3c.3023T>G (p.Leu1008Arg)
c.230T>G (p.Leu77Arg)
c.2831T>G (p.Leu944Arg)
1g.209617935A>GCA344584704LAMB3c.3023T>C (p.Leu1008Pro)
c.230T>C (p.Leu77Pro)
c.2831T>C (p.Leu944Pro)
1g.209617935A>TCA344584705LAMB3c.3023T>A (p.Leu1008His)
c.230T>A (p.Leu77His)
c.2831T>A (p.Leu944His)
1g.209617935_209617936delinsAGCA2484296059LAMB3c.3022_3023delinsCT (p.Leu1008=)
c.229_230delinsCT (p.Leu77=)
c.2830_2831delinsCT (p.Leu944=)
1g.209617936G>ACA36749852LAMB3c.3022C>T (p.Leu1008Phe)
c.229C>T (p.Leu77Phe)
c.2830C>T (p.Leu944Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.209617936G>CCA344584706LAMB3c.3022C>G (p.Leu1008Val)
c.229C>G (p.Leu77Val)
c.2830C>G (p.Leu944Val)
1g.209617936G=CA2484296060LAMB3c.3022C= (p.Leu1008=)
c.229C= (p.Leu77=)
c.2830C= (p.Leu944=)
1g.209617936G>TCA344584707LAMB3c.3022C>A (p.Leu1008Ile)
c.229C>A (p.Leu77Ile)
c.2830C>A (p.Leu944Ile)
1g.209617936_209617938delinsGGGCA1149041319LAMB3c.3020_3022delinsCCC (p.Ser1007=)
c.227_229delinsCCC (p.Ser76=)
c.2828_2830delinsCCC (p.Ser943=)
1g.209617938delCA1375014LAMB3c.3022del (p.Leu1008PhefsTer22)
c.229del (p.Leu77PhefsTer22)
c.2830del (p.Leu944PhefsTer22)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617937G>ACA423029706LAMB3c.3021C>T (p.Ser1007=)
c.228C>T (p.Ser76=)
c.2829C>T (p.Ser943=)
 gnomAD v4
1g.209617937G>CCA423029707LAMB3c.3021C>G (p.Ser1007=)
c.228C>G (p.Ser76=)
c.2829C>G (p.Ser943=)
1g.209617937G>TCA423029708LAMB3c.3021C>A (p.Ser1007=)
c.228C>A (p.Ser76=)
c.2829C>A (p.Ser943=)
1g.209617938G>ACA1375015LAMB3c.3020C>T (p.Ser1007Phe)
c.227C>T (p.Ser76Phe)
c.2828C>T (p.Ser943Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617938G>CCA344584708LAMB3c.3020C>G (p.Ser1007Cys)
c.227C>G (p.Ser76Cys)
c.2828C>G (p.Ser943Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.209617938G=CA2484296061LAMB3c.3020C= (p.Ser1007=)
c.227C= (p.Ser76=)
c.2828C= (p.Ser943=)
1g.209617938G>TCA344584709LAMB3c.3020C>A (p.Ser1007Tyr)
c.227C>A (p.Ser76Tyr)
c.2828C>A (p.Ser943Tyr)
1g.209617939A=CA2484296062LAMB3c.3019T= (p.Ser1007=)
c.226T= (p.Ser76=)
c.2827T= (p.Ser943=)
1g.209617939A>CCA344584712LAMB3c.3019T>G (p.Ser1007Ala)
c.226T>G (p.Ser76Ala)
c.2827T>G (p.Ser943Ala)
1g.209617939A>GCA344584711LAMB3c.3019T>C (p.Ser1007Pro)
c.226T>C (p.Ser76Pro)
c.2827T>C (p.Ser943Pro)
1g.209617939A>TCA344584710LAMB3c.3019T>A (p.Ser1007Thr)
c.226T>A (p.Ser76Thr)
c.2827T>A (p.Ser943Thr)
 dbSNP gnomAD v2
1g.209617940G>ACA423029709LAMB3c.3018C>T (p.Arg1006=)
c.225C>T (p.Arg75=)
c.2826C>T (p.Arg942=)
1g.209617940G>CCA423029711LAMB3c.3018C>G (p.Arg1006=)
c.225C>G (p.Arg75=)
c.2826C>G (p.Arg942=)
1g.209617940G>TCA423029713LAMB3c.3018C>A (p.Arg1006=)
c.225C>A (p.Arg75=)
c.2826C>A (p.Arg942=)
1g.209617941C>ACA1375017LAMB3c.3017G>T (p.Arg1006Leu)
c.224G>T (p.Arg75Leu)
c.2825G>T (p.Arg942Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617941C=CA2484296063LAMB3c.3017G= (p.Arg1006=)
c.224G= (p.Arg75=)
c.2825G= (p.Arg942=)
1g.209617941C>GCA344584713LAMB3c.3017G>C (p.Arg1006Pro)
c.224G>C (p.Arg75Pro)
c.2825G>C (p.Arg942Pro)
1g.209617941C>TCA1375016LAMB3c.3017G>A (p.Arg1006His)
c.224G>A (p.Arg75His)
c.2825G>A (p.Arg942His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209617941_209617942delinsCGCA2484296064LAMB3c.3016_3017delinsCG (p.Arg1006=)
c.223_224delinsCG (p.Arg75=)
c.2824_2825delinsCG (p.Arg942=)
1g.209617942G>ACA1375018LAMB3c.3016C>T (p.Arg1006Cys)
c.223C>T (p.Arg75Cys)
c.2824C>T (p.Arg942Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617942G>CCA344584715LAMB3c.3016C>G (p.Arg1006Gly)
c.223C>G (p.Arg75Gly)
c.2824C>G (p.Arg942Gly)
 gnomAD v4
1g.209617942G=CA1144144130LAMB3c.3016C= (p.Arg1006=)
c.223C= (p.Arg75=)
c.2824C= (p.Arg942=)
1g.209617942G>TCA344584716LAMB3c.3016C>A (p.Arg1006Ser)
c.223C>A (p.Arg75Ser)
c.2824C>A (p.Arg942Ser)
1g.209617943delCA528652453LAMB3c.3016del (p.Arg1006AlafsTer24)
c.223del (p.Arg75AlafsTer24)
c.2824del (p.Arg942AlafsTer24)
 dbSNP gnomAD v2 gnomAD v4
1g.209617943G>ACA1375019LAMB3c.3015C>T (p.Ser1005=)
c.222C>T (p.Ser74=)
c.2823C>T (p.Ser941=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617943G>CCA344584717LAMB3c.3015C>G (p.Ser1005Arg)
c.222C>G (p.Ser74Arg)
c.2823C>G (p.Ser941Arg)
1g.209617943G=CA1148228101LAMB3c.3015C= (p.Ser1005=)
c.222C= (p.Ser74=)
c.2823C= (p.Ser941=)
1g.209617943G>TCA344584718LAMB3c.3015C>A (p.Ser1005Arg)
c.222C>A (p.Ser74Arg)
c.2823C>A (p.Ser941Arg)
 gnomAD v4
1g.209617944C>ACA344584719LAMB3c.3014G>T (p.Ser1005Ile)
c.221G>T (p.Ser74Ile)
c.2822G>T (p.Ser941Ile)
1g.209617944C>GCA344584720LAMB3c.3014G>C (p.Ser1005Thr)
c.221G>C (p.Ser74Thr)
c.2822G>C (p.Ser941Thr)
1g.209617944C>TCA344584721LAMB3c.3014G>A (p.Ser1005Asn)
c.221G>A (p.Ser74Asn)
c.2822G>A (p.Ser941Asn)
1g.209617945T>ACA344584724LAMB3c.3013A>T (p.Ser1005Cys)
c.220A>T (p.Ser74Cys)
c.2821A>T (p.Ser941Cys)
1g.209617945T>CCA344584723LAMB3c.3013A>G (p.Ser1005Gly)
c.220A>G (p.Ser74Gly)
c.2821A>G (p.Ser941Gly)
1g.209617945T>GCA344584722LAMB3c.3013A>C (p.Ser1005Arg)
c.220A>C (p.Ser74Arg)
c.2821A>C (p.Ser941Arg)
1g.209617945T=CA2484296065LAMB3c.3013A= (p.Ser1005=)
c.220A= (p.Ser74=)
c.2821A= (p.Ser941=)
1g.209617946G>ACA423029719LAMB3c.3012C>T (p.Thr1004=)
c.219C>T (p.Thr73=)
c.2820C>T (p.Thr940=)
1g.209617946G>CCA423029720LAMB3c.3012C>G (p.Thr1004=)
c.219C>G (p.Thr73=)
c.2820C>G (p.Thr940=)
1g.209617946G>TCA423029721LAMB3c.3012C>A (p.Thr1004=)
c.219C>A (p.Thr73=)
c.2820C>A (p.Thr940=)
1g.209617947_209617948insGGGGCA2650320429LAMB3c.3012_3013insCCCC (p.Ser1005ProfsTer14)
c.219_220insCCCC (p.Ser74ProfsTer14)
c.2820_2821insCCCC (p.Ser941ProfsTer14)
 gnomAD v4
1g.209617947dupCA528652454LAMB3c.3012dup (p.Ser1005GlnfsTer13)
c.219dup (p.Ser74GlnfsTer13)
c.2820dup (p.Ser941GlnfsTer13)
 dbSNP gnomAD v2
1g.209617947G>ACA1375020LAMB3c.3011C>T (p.Thr1004Ile)
c.218C>T (p.Thr73Ile)
c.2819C>T (p.Thr940Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.209617947G>CCA1375021LAMB3c.3011C>G (p.Thr1004Ser)
c.218C>G (p.Thr73Ser)
c.2819C>G (p.Thr940Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617947G=CA2484296066LAMB3c.3011C= (p.Thr1004=)
c.218C= (p.Thr73=)
c.2819C= (p.Thr940=)
1g.209617947G>TCA344584725LAMB3c.3011C>A (p.Thr1004Asn)
c.218C>A (p.Thr73Asn)
c.2819C>A (p.Thr940Asn)
 gnomAD v4
1g.209617948T>ACA344584726LAMB3c.3010A>T (p.Thr1004Ser)
c.217A>T (p.Thr73Ser)
c.2818A>T (p.Thr940Ser)
1g.209617948T>CCA344584727LAMB3c.3010A>G (p.Thr1004Ala)
c.217A>G (p.Thr73Ala)
c.2818A>G (p.Thr940Ala)
1g.209617948T>GCA1375022LAMB3c.3010A>C (p.Thr1004Pro)
c.217A>C (p.Thr73Pro)
c.2818A>C (p.Thr940Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617948T=CA1143468512LAMB3c.3010A= (p.Thr1004=)
c.217A= (p.Thr73=)
c.2818A= (p.Thr940=)
1g.209617949G>ACA423029725LAMB3c.3009C>T (p.Gly1003=)
c.216C>T (p.Gly72=)
c.2817C>T (p.Gly939=)
1g.209617949G>CCA423029727LAMB3c.3009C>G (p.Gly1003=)
c.216C>G (p.Gly72=)
c.2817C>G (p.Gly939=)
1g.209617949G>TCA423029726LAMB3c.3009C>A (p.Gly1003=)
c.216C>A (p.Gly72=)
c.2817C>A (p.Gly939=)
1g.209617950C>ACA1375024LAMB3c.3008G>T (p.Gly1003Val)
c.215G>T (p.Gly72Val)
c.2816G>T (p.Gly939Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.209617950C=CA2484296067LAMB3c.3008G= (p.Gly1003=)
c.215G= (p.Gly72=)
c.2816G= (p.Gly939=)
1g.209617950C>GCA1375023LAMB3c.3008G>C (p.Gly1003Ala)
c.215G>C (p.Gly72Ala)
c.2816G>C (p.Gly939Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617950C>TCA344584730LAMB3c.3008G>A (p.Gly1003Asp)
c.215G>A (p.Gly72Asp)
c.2816G>A (p.Gly939Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.209617951C>ACA344584731LAMB3c.3007G>T (p.Gly1003Cys)
c.214G>T (p.Gly72Cys)
c.2815G>T (p.Gly939Cys)
1g.209617951C=CA2484296068LAMB3c.3007G= (p.Gly1003=)
c.214G= (p.Gly72=)
c.2815G= (p.Gly939=)
1g.209617951C>GCA344584732LAMB3c.3007G>C (p.Gly1003Arg)
c.214G>C (p.Gly72Arg)
c.2815G>C (p.Gly939Arg)
1g.209617951C>TCA10609564LAMB3c.3007G>A (p.Gly1003Ser)
c.214G>A (p.Gly72Ser)
c.2815G>A (p.Gly939Ser)
 ClinVar dbSNP COSMIC
1g.209617952T>ACA344584734LAMB3c.3006A>T (p.Gln1002His)
c.213A>T (p.Gln71His)
c.2814A>T (p.Gln938His)
1g.209617952T>CCA423029729LAMB3c.3006A>G (p.Gln1002=)
c.213A>G (p.Gln71=)
c.2814A>G (p.Gln938=)
 ClinVar dbSNP
1g.209617952T>GCA344584733LAMB3c.3006A>C (p.Gln1002His)
c.213A>C (p.Gln71His)
c.2814A>C (p.Gln938His)
1g.209617952T=CA2484296069LAMB3c.3006A= (p.Gln1002=)
c.213A= (p.Gln71=)
c.2814A= (p.Gln938=)
1g.209617953T>ACA344584735LAMB3c.3005A>T (p.Gln1002Leu)
c.212A>T (p.Gln71Leu)
c.2813A>T (p.Gln938Leu)
 gnomAD v4
1g.209617953T>CCA344584736LAMB3c.3005A>G (p.Gln1002Arg)
c.212A>G (p.Gln71Arg)
c.2813A>G (p.Gln938Arg)
1g.209617953T>GCA344584737LAMB3c.3005A>C (p.Gln1002Pro)
c.212A>C (p.Gln71Pro)
c.2813A>C (p.Gln938Pro)
1g.209617954G>ACA344584738LAMB3c.3004C>T (p.Gln1002Ter)
c.211C>T (p.Gln71Ter)
c.2812C>T (p.Gln938Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.209617954G>CCA344584739LAMB3c.3004C>G (p.Gln1002Glu)
c.211C>G (p.Gln71Glu)
c.2812C>G (p.Gln938Glu)
1g.209617954G=CA2484296070LAMB3c.3004C= (p.Gln1002=)
c.211C= (p.Gln71=)
c.2812C= (p.Gln938=)
1g.209617954G>TCA1375025LAMB3c.3004C>A (p.Gln1002Lys)
c.211C>A (p.Gln71Lys)
c.2812C>A (p.Gln938Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617955C>ACA344584740LAMB3c.3003G>T (p.Met1001Ile)
c.210G>T (p.Met70Ile)
c.2811G>T (p.Met937Ile)
1g.209617955C=CA2484296071LAMB3c.3003G= (p.Met1001=)
c.210G= (p.Met70=)
c.2811G= (p.Met937=)
1g.209617955C>GCA344584741LAMB3c.3003G>C (p.Met1001Ile)
c.210G>C (p.Met70Ile)
c.2811G>C (p.Met937Ile)
1g.209617955C>TCA344584742LAMB3c.3003G>A (p.Met1001Ile)
c.210G>A (p.Met70Ile)
c.2811G>A (p.Met937Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.209617956A=CA2484296072LAMB3c.3002T= (p.Met1001=)
c.209T= (p.Met70=)
c.2810T= (p.Met937=)
1g.209617956A>CCA1375026LAMB3c.3002T>G (p.Met1001Arg)
c.209T>G (p.Met70Arg)
c.2810T>G (p.Met937Arg)
 dbSNP ExAC
1g.209617956A>GCA344584743LAMB3c.3002T>C (p.Met1001Thr)
c.209T>C (p.Met70Thr)
c.2810T>C (p.Met937Thr)
 dbSNP gnomAD v4
1g.209617956A>TCA344584744LAMB3c.3002T>A (p.Met1001Lys)
c.209T>A (p.Met70Lys)
c.2810T>A (p.Met937Lys)
1g.209617957T>ACA344584747LAMB3c.3001A>T (p.Met1001Leu)
c.208A>T (p.Met70Leu)
c.2809A>T (p.Met937Leu)
1g.209617957T>CCA344584746LAMB3c.3001A>G (p.Met1001Val)
c.208A>G (p.Met70Val)
c.2809A>G (p.Met937Val)
 dbSNP gnomAD v3 gnomAD v4
1g.209617957T>GCA344584745LAMB3c.3001A>C (p.Met1001Leu)
c.208A>C (p.Met70Leu)
c.2809A>C (p.Met937Leu)
1g.209617957T=CA2484296073LAMB3c.3001A= (p.Met1001=)
c.208A= (p.Met70=)
c.2809A= (p.Met937=)
1g.209617958G>ACA423029738LAMB3c.3000C>T (p.Thr1000=)
c.207C>T (p.Thr69=)
c.2808C>T (p.Thr936=)
1g.209617958G>CCA423029737LAMB3c.3000C>G (p.Thr1000=)
c.207C>G (p.Thr69=)
c.2808C>G (p.Thr936=)
1g.209617958G>TCA423029736LAMB3c.3000C>A (p.Thr1000=)
c.207C>A (p.Thr69=)
c.2808C>A (p.Thr936=)
1g.209617959G>ACA344584748LAMB3c.2999C>T (p.Thr1000Ile)
c.206C>T (p.Thr69Ile)
c.2807C>T (p.Thr936Ile)
1g.209617959G>CCA344584750LAMB3c.2999C>G (p.Thr1000Ser)
c.206C>G (p.Thr69Ser)
c.2807C>G (p.Thr936Ser)
 dbSNP gnomAD v4
1g.209617959G=CA2484296074LAMB3c.2999C= (p.Thr1000=)
c.206C= (p.Thr69=)
c.2807C= (p.Thr936=)
1g.209617959G>TCA344584749LAMB3c.2999C>A (p.Thr1000Asn)
c.206C>A (p.Thr69Asn)
c.2807C>A (p.Thr936Asn)
1g.209617960T>ACA344584751LAMB3c.2998A>T (p.Thr1000Ser)
c.205A>T (p.Thr69Ser)
c.2806A>T (p.Thr936Ser)
1g.209617960T>CCA344584752LAMB3c.2998A>G (p.Thr1000Ala)
c.205A>G (p.Thr69Ala)
c.2806A>G (p.Thr936Ala)
1g.209617960T>GCA1375027LAMB3c.2998A>C (p.Thr1000Pro)
c.205A>C (p.Thr69Pro)
c.2806A>C (p.Thr936Pro)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.209617960T=CA2484296075LAMB3c.2998A= (p.Thr1000=)
c.205A= (p.Thr69=)
c.2806A= (p.Thr936=)
1g.209617961G>ACA423029740LAMB3c.2997C>T (p.Asp999=)
c.204C>T (p.Asp68=)
c.2805C>T (p.Asp935=)
 dbSNP
1g.209617961G>CCA344584753LAMB3c.2997C>G (p.Asp999Glu)
c.204C>G (p.Asp68Glu)
c.2805C>G (p.Asp935Glu)
1g.209617961G=CA2484296076LAMB3c.2997C= (p.Asp999=)
c.204C= (p.Asp68=)
c.2805C= (p.Asp935=)
1g.209617961G>TCA344584754LAMB3c.2997C>A (p.Asp999Glu)
c.204C>A (p.Asp68Glu)
c.2805C>A (p.Asp935Glu)
1g.209617962T>ACA344584755LAMB3c.2996A>T (p.Asp999Val)
c.203A>T (p.Asp68Val)
c.2804A>T (p.Asp935Val)
1g.209617962T>CCA344584756LAMB3c.2996A>G (p.Asp999Gly)
c.203A>G (p.Asp68Gly)
c.2804A>G (p.Asp935Gly)
1g.209617962T>GCA344584757LAMB3c.2996A>C (p.Asp999Ala)
c.203A>C (p.Asp68Ala)
c.2804A>C (p.Asp935Ala)
1g.209617962dupCA2650320430LAMB3c.2996dup (p.Asp999GlufsTer19)
c.203dup (p.Asp68GlufsTer19)
c.2804dup (p.Asp935GlufsTer19)
 gnomAD v4
1g.209617963C>ACA344584758LAMB3c.2995G>T (p.Asp999Tyr)
c.202G>T (p.Asp68Tyr)
c.2803G>T (p.Asp935Tyr)
 dbSNP
1g.209617963C=CA2484296077LAMB3c.2995G= (p.Asp999=)
c.202G= (p.Asp68=)
c.2803G= (p.Asp935=)
1g.209617963C>GCA344584759LAMB3c.2995G>C (p.Asp999His)
c.202G>C (p.Asp68His)
c.2803G>C (p.Asp935His)
1g.209617963C>TCA344584760LAMB3c.2995G>A (p.Asp999Asn)
c.202G>A (p.Asp68Asn)
c.2803G>A (p.Asp935Asn)
1g.209617964C>ACA36749899LAMB3c.2994G>T (p.Gln998His)
c.201G>T (p.Gln67His)
c.2802G>T (p.Gln934His)
 dbSNP
1g.209617964C=CA2484296078LAMB3c.2994G= (p.Gln998=)
c.201G= (p.Gln67=)
c.2802G= (p.Gln934=)
1g.209617964C>GCA344584761LAMB3c.2994G>C (p.Gln998His)
c.201G>C (p.Gln67His)
c.2802G>C (p.Gln934His)
1g.209617964C>TCA423029744LAMB3c.2994G>A (p.Gln998=)
c.201G>A (p.Gln67=)
c.2802G>A (p.Gln934=)
 ClinVar dbSNP
1g.209617965T>ACA344584762LAMB3c.2993A>T (p.Gln998Leu)
c.200A>T (p.Gln67Leu)
c.2801A>T (p.Gln934Leu)
1g.209617965T>CCA344584763LAMB3c.2993A>G (p.Gln998Arg)
c.200A>G (p.Gln67Arg)
c.2801A>G (p.Gln934Arg)
1g.209617965T>GCA344584764LAMB3c.2993A>C (p.Gln998Pro)
c.200A>C (p.Gln67Pro)
c.2801A>C (p.Gln934Pro)
1g.209617966G>ACA344584765LAMB3c.2992C>T (p.Gln998Ter)
c.199C>T (p.Gln67Ter)
c.2800C>T (p.Gln934Ter)
 ClinVar dbSNP
1g.209617966G>CCA344584766LAMB3c.2992C>G (p.Gln998Glu)
c.199C>G (p.Gln67Glu)
c.2800C>G (p.Gln934Glu)
 gnomAD v4
1g.209617966G=CA2484296079LAMB3c.2992C= (p.Gln998=)
c.199C= (p.Gln67=)
c.2800C= (p.Gln934=)
1g.209617966G>TCA344584767LAMB3c.2992C>A (p.Gln998Lys)
c.199C>A (p.Gln67Lys)
c.2800C>A (p.Gln934Lys)
 dbSNP
1g.209617967A=CA2484296080LAMB3c.2991T= (p.Ala997=)
c.198T= (p.Ala66=)
c.2799T= (p.Ala933=)
1g.209617967A>CCA423029749LAMB3c.2991T>G (p.Ala997=)
c.198T>G (p.Ala66=)
c.2799T>G (p.Ala933=)
1g.209617967A>GCA423029750LAMB3c.2991T>C (p.Ala997=)
c.198T>C (p.Ala66=)
c.2799T>C (p.Ala933=)
 dbSNP
1g.209617967A>TCA423029751LAMB3c.2991T>A (p.Ala997=)
c.198T>A (p.Ala66=)
c.2799T>A (p.Ala933=)
1g.209617968G>ACA344584768LAMB3c.2990C>T (p.Ala997Val)
c.197C>T (p.Ala66Val)
c.2798C>T (p.Ala933Val)
1g.209617968G>CCA344584769LAMB3c.2990C>G (p.Ala997Gly)
c.197C>G (p.Ala66Gly)
c.2798C>G (p.Ala933Gly)
1g.209617968G>TCA344584770LAMB3c.2990C>A (p.Ala997Asp)
c.197C>A (p.Ala66Asp)
c.2798C>A (p.Ala933Asp)
1g.209617969C>ACA344584771LAMB3c.2989G>T (p.Ala997Ser)
c.196G>T (p.Ala66Ser)
c.2797G>T (p.Ala933Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.209617969C=CA2484296081LAMB3c.2989G= (p.Ala997=)
c.196G= (p.Ala66=)
c.2797G= (p.Ala933=)
1g.209617969C>GCA344584772LAMB3c.2989G>C (p.Ala997Pro)
c.196G>C (p.Ala66Pro)
c.2797G>C (p.Ala933Pro)
1g.209617969C>TCA344584773LAMB3c.2989G>A (p.Ala997Thr)
c.196G>A (p.Ala66Thr)
c.2797G>A (p.Ala933Thr)
 gnomAD v4
1g.209617970T>ACA344584775LAMB3c.2988A>T (p.Glu996Asp)
c.195A>T (p.Glu65Asp)
c.2796A>T (p.Glu932Asp)
1g.209617970T>CCA36749901LAMB3c.2988A>G (p.Glu996=)
c.195A>G (p.Glu65=)
c.2796A>G (p.Glu932=)
 ClinVar dbSNP
1g.209617970T>GCA344584774LAMB3c.2988A>C (p.Glu996Asp)
c.195A>C (p.Glu65Asp)
c.2796A>C (p.Glu932Asp)
1g.209617970T=CA2484296082LAMB3c.2988A= (p.Glu996=)
c.195A= (p.Glu65=)
c.2796A= (p.Glu932=)
1g.209617971T>ACA344584776LAMB3c.2987A>T (p.Glu996Val)
c.194A>T (p.Glu65Val)
c.2795A>T (p.Glu932Val)
1g.209617971T>CCA344584777LAMB3c.2987A>G (p.Glu996Gly)
c.194A>G (p.Glu65Gly)
c.2795A>G (p.Glu932Gly)
1g.209617971T>GCA344584778LAMB3c.2987A>C (p.Glu996Ala)
c.194A>C (p.Glu65Ala)
c.2795A>C (p.Glu932Ala)
1g.209617972C>ACA344584779LAMB3c.2986G>T (p.Glu996Ter)
c.193G>T (p.Glu65Ter)
c.2794G>T (p.Glu932Ter)
1g.209617972C>GCA344584780LAMB3c.2986G>C (p.Glu996Gln)
c.193G>C (p.Glu65Gln)
c.2794G>C (p.Glu932Gln)
1g.209617972C>TCA344584781LAMB3c.2986G>A (p.Glu996Lys)
c.193G>A (p.Glu65Lys)
c.2794G>A (p.Glu932Lys)
 COSMIC
1g.209617973C>ACA344584783LAMB3c.2985G>T (p.Gln995His)
c.192G>T (p.Gln64His)
c.2793G>T (p.Gln931His)
1g.209617973C>GCA344584782LAMB3c.2985G>C (p.Gln995His)
c.192G>C (p.Gln64His)
c.2793G>C (p.Gln931His)
1g.209617973C>TCA423029753LAMB3c.2985G>A (p.Gln995=)
c.192G>A (p.Gln64=)
c.2793G>A (p.Gln931=)
 gnomAD v4
1g.209617974T>ACA344584784LAMB3c.2984A>T (p.Gln995Leu)
c.191A>T (p.Gln64Leu)
c.2792A>T (p.Gln931Leu)
1g.209617974T>CCA344584785LAMB3c.2984A>G (p.Gln995Arg)
c.191A>G (p.Gln64Arg)
c.2792A>G (p.Gln931Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.209617974T>GCA344584786LAMB3c.2984A>C (p.Gln995Pro)
c.191A>C (p.Gln64Pro)
c.2792A>C (p.Gln931Pro)
 gnomAD v4
1g.209617974T=CA2484296083LAMB3c.2984A= (p.Gln995=)
c.191A= (p.Gln64=)
c.2792A= (p.Gln931=)
1g.209617975G>ACA344584787LAMB3c.2983C>T (p.Gln995Ter)
c.190C>T (p.Gln64Ter)
c.2791C>T (p.Gln931Ter)
1g.209617975G>CCA344584788LAMB3c.2983C>G (p.Gln995Glu)
c.190C>G (p.Gln64Glu)
c.2791C>G (p.Gln931Glu)
1g.209617975G>TCA344584789LAMB3c.2983C>A (p.Gln995Lys)
c.190C>A (p.Gln64Lys)
c.2791C>A (p.Gln931Lys)
 gnomAD v4
1g.209617976C>ACA423029756LAMB3c.2982G>T (p.Leu994=)
c.189G>T (p.Leu63=)
c.2790G>T (p.Leu930=)
1g.209617976C>GCA423029757LAMB3c.2982G>C (p.Leu994=)
c.189G>C (p.Leu63=)
c.2790G>C (p.Leu930=)
1g.209617976C>TCA423029758LAMB3c.2982G>A (p.Leu994=)
c.189G>A (p.Leu63=)
c.2790G>A (p.Leu930=)
1g.209617977A>CCA344584790LAMB3c.2981T>G (p.Leu994Arg)
c.188T>G (p.Leu63Arg)
c.2789T>G (p.Leu930Arg)
 gnomAD v4
1g.209617977A>GCA344584792LAMB3c.2981T>C (p.Leu994Pro)
c.188T>C (p.Leu63Pro)
c.2789T>C (p.Leu930Pro)
1g.209617977A>TCA344584791LAMB3c.2981T>A (p.Leu994Gln)
c.188T>A (p.Leu63Gln)
c.2789T>A (p.Leu930Gln)
1g.209617978G>ACA423029759LAMB3c.2980C>T (p.Leu994=)
c.187C>T (p.Leu63=)
c.2788C>T (p.Leu930=)
1g.209617978G>CCA344584793LAMB3c.2980C>G (p.Leu994Val)
c.187C>G (p.Leu63Val)
c.2788C>G (p.Leu930Val)
1g.209617978G>TCA344584794LAMB3c.2980C>A (p.Leu994Met)
c.187C>A (p.Leu63Met)
c.2788C>A (p.Leu930Met)
1g.209617979T>ACA423029760LAMB3c.2979A>T (p.Ala993=)
c.186A>T (p.Ala62=)
c.2787A>T (p.Ala929=)
1g.209617979T>CCA423029762LAMB3c.2979A>G (p.Ala993=)
c.186A>G (p.Ala62=)
c.2787A>G (p.Ala929=)
1g.209617979T>GCA423029761LAMB3c.2979A>C (p.Ala993=)
c.186A>C (p.Ala62=)
c.2787A>C (p.Ala929=)
 dbSNP gnomAD v2 gnomAD v4
1g.209617979T=CA2484296084LAMB3c.2979A= (p.Ala993=)
c.186A= (p.Ala62=)
c.2787A= (p.Ala929=)
1g.209617980G>ACA344584795LAMB3c.2978C>T (p.Ala993Val)
c.185C>T (p.Ala62Val)
c.2786C>T (p.Ala929Val)
1g.209617980G>CCA344584796LAMB3c.2978C>G (p.Ala993Gly)
c.185C>G (p.Ala62Gly)
c.2786C>G (p.Ala929Gly)
1g.209617980G>TCA344584797LAMB3c.2978C>A (p.Ala993Glu)
c.185C>A (p.Ala62Glu)
c.2786C>A (p.Ala929Glu)
1g.209617981C>ACA344584798LAMB3c.2977G>T (p.Ala993Ser)
c.184G>T (p.Ala62Ser)
c.2785G>T (p.Ala929Ser)
 gnomAD v4
1g.209617981C>GCA344584799LAMB3c.2977G>C (p.Ala993Pro)
c.184G>C (p.Ala62Pro)
c.2785G>C (p.Ala929Pro)
1g.209617981C>TCA344584800LAMB3c.2977G>A (p.Ala993Thr)
c.184G>A (p.Ala62Thr)
c.2785G>A (p.Ala929Thr)
 gnomAD v4
1g.209617982C>ACA423029764LAMB3c.2976G>T (p.Val992=)
c.183G>T (p.Val61=)
c.2784G>T (p.Val928=)
1g.209617982C=CA2484296086LAMB3c.2976G= (p.Val992=)
c.183G= (p.Val61=)
c.2784G= (p.Val928=)
1g.209617982C>GCA423029765LAMB3c.2976G>C (p.Val992=)
c.183G>C (p.Val61=)
c.2784G>C (p.Val928=)
1g.209617982C>TCA1375028LAMB3c.2976G>A (p.Val992=)
c.183G>A (p.Val61=)
c.2784G>A (p.Val928=)
 ClinVar dbSNP ExAC gnomAD v4
1g.209617982_209617983delinsCACA2484296085LAMB3c.2975_2976delinsTG (p.Val992=)
c.182_183delinsTG (p.Val61=)
c.2783_2784delinsTG (p.Val928=)
1g.209617983delCA1375029LAMB3c.2975del (p.Val992GlyfsTer?)
c.182del (p.Val61GlyfsTer?)
c.2783del (p.Val928GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617983A=CA2484296087LAMB3c.2975T= (p.Val992=)
c.182T= (p.Val61=)
c.2783T= (p.Val928=)
1g.209617983A>CCA344584801LAMB3c.2975T>G (p.Val992Gly)
c.182T>G (p.Val61Gly)
c.2783T>G (p.Val928Gly)
 dbSNP
1g.209617983A>GCA344584802LAMB3c.2975T>C (p.Val992Ala)
c.182T>C (p.Val61Ala)
c.2783T>C (p.Val928Ala)
 dbSNP
1g.209617983A>TCA344584803LAMB3c.2975T>A (p.Val992Glu)
c.182T>A (p.Val61Glu)
c.2783T>A (p.Val928Glu)
1g.209617984C>ACA344584804LAMB3c.2974G>T (p.Val992Leu)
c.181G>T (p.Val61Leu)
c.2782G>T (p.Val928Leu)
1g.209617984C=CA2484296088LAMB3c.2974G= (p.Val992=)
c.181G= (p.Val61=)
c.2782G= (p.Val928=)
1g.209617984C>GCA344584805LAMB3c.2974G>C (p.Val992Leu)
c.181G>C (p.Val61Leu)
c.2782G>C (p.Val928Leu)
1g.209617984C>TCA1375030LAMB3c.2974G>A (p.Val992Met)
c.181G>A (p.Val61Met)
c.2782G>A (p.Val928Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617985T>ACA423029769LAMB3c.2973A>T (p.Thr991=)
c.180A>T (p.Thr60=)
c.2781A>T (p.Thr927=)
 dbSNP gnomAD v2 gnomAD v4
1g.209617985T>CCA36749903LAMB3c.2973A>G (p.Thr991=)
c.180A>G (p.Thr60=)
c.2781A>G (p.Thr927=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617985T>GCA423029770LAMB3c.2973A>C (p.Thr991=)
c.180A>C (p.Thr60=)
c.2781A>C (p.Thr927=)
1g.209617985T=CA2484296089LAMB3c.2973A= (p.Thr991=)
c.180A= (p.Thr60=)
c.2781A= (p.Thr927=)
1g.209617986G>ACA344584807LAMB3c.2972C>T (p.Thr991Ile)
c.179C>T (p.Thr60Ile)
c.2780C>T (p.Thr927Ile)
 gnomAD v4
1g.209617986G>CCA344584806LAMB3c.2972C>G (p.Thr991Arg)
c.179C>G (p.Thr60Arg)
c.2780C>G (p.Thr927Arg)
1g.209617986G>TCA344584808LAMB3c.2972C>A (p.Thr991Lys)
c.179C>A (p.Thr60Lys)
c.2780C>A (p.Thr927Lys)
1g.209617987T>ACA344584809LAMB3c.2971A>T (p.Thr991Ser)
c.178A>T (p.Thr60Ser)
c.2779A>T (p.Thr927Ser)
1g.209617987T>CCA344584810LAMB3c.2971A>G (p.Thr991Ala)
c.178A>G (p.Thr60Ala)
c.2779A>G (p.Thr927Ala)
 dbSNP
1g.209617987T>GCA344584811LAMB3c.2971A>C (p.Thr991Pro)
c.178A>C (p.Thr60Pro)
c.2779A>C (p.Thr927Pro)
1g.209617987T=CA2484296091LAMB3c.2971A= (p.Thr991=)
c.178A= (p.Thr60=)
c.2779A= (p.Thr927=)
1g.209617987_209617988delinsTCCA2484296090LAMB3c.2970_2971delinsGA (p.Gly990=)
c.177_178delinsGA (p.Gly59=)
c.2778_2779delinsGA (p.Gly926=)
1g.209617988C>ACA423029774LAMB3c.2970G>T (p.Gly990=)
c.177G>T (p.Gly59=)
c.2778G>T (p.Gly926=)
 ClinVar
1g.209617988C=CA2484296092LAMB3c.2970G= (p.Gly990=)
c.177G= (p.Gly59=)
c.2778G= (p.Gly926=)
1g.209617988C>GCA423029773LAMB3c.2970G>C (p.Gly990=)
c.177G>C (p.Gly59=)
c.2778G>C (p.Gly926=)
 ClinVar
1g.209617988C>TCA1375031LAMB3c.2970G>A (p.Gly990=)
c.177G>A (p.Gly59=)
c.2778G>A (p.Gly926=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617991delCA730846622LAMB3c.2970del (p.Thr991GlnfsTer?)
c.177del (p.Thr60GlnfsTer?)
c.2778del (p.Thr927GlnfsTer?)
 dbSNP gnomAD v4
1g.209617989C>ACA344584812LAMB3c.2969G>T (p.Gly990Val)
c.176G>T (p.Gly59Val)
c.2777G>T (p.Gly926Val)
 gnomAD v4
1g.209617989C=CA2484296093LAMB3c.2969G= (p.Gly990=)
c.176G= (p.Gly59=)
c.2777G= (p.Gly926=)
1g.209617989C>GCA344584813LAMB3c.2969G>C (p.Gly990Ala)
c.176G>C (p.Gly59Ala)
c.2777G>C (p.Gly926Ala)
 dbSNP gnomAD v4
1g.209617989C>TCA344584814LAMB3c.2969G>A (p.Gly990Glu)
c.176G>A (p.Gly59Glu)
c.2777G>A (p.Gly926Glu)
1g.209617990C>ACA344584815LAMB3c.2968G>T (p.Gly990Trp)
c.175G>T (p.Gly59Trp)
c.2776G>T (p.Gly926Trp)
1g.209617990C=CA2484296094LAMB3c.2968G= (p.Gly990=)
c.175G= (p.Gly59=)
c.2776G= (p.Gly926=)
1g.209617990C>GCA344584816LAMB3c.2968G>C (p.Gly990Arg)
c.175G>C (p.Gly59Arg)
c.2776G>C (p.Gly926Arg)
1g.209617990C>TCA10608972LAMB3c.2968G>A (p.Gly990Arg)
c.175G>A (p.Gly59Arg)
c.2776G>A (p.Gly926Arg)
 ClinVar dbSNP
1g.209617991C>ACA344584817LAMB3c.2967G>T (p.Gln989His)
c.174G>T (p.Gln58His)
c.2775G>T (p.Gln925His)
1g.209617991C>GCA344584818LAMB3c.2967G>C (p.Gln989His)
c.174G>C (p.Gln58His)
c.2775G>C (p.Gln925His)
1g.209617991C>TCA423029776LAMB3c.2967G>A (p.Gln989=)
c.174G>A (p.Gln58=)
c.2775G>A (p.Gln925=)
1g.209617992T>ACA344584821LAMB3c.2966A>T (p.Gln989Leu)
c.173A>T (p.Gln58Leu)
c.2774A>T (p.Gln925Leu)
1g.209617992T>CCA344584819LAMB3c.2966A>G (p.Gln989Arg)
c.173A>G (p.Gln58Arg)
c.2774A>G (p.Gln925Arg)
1g.209617992T>GCA344584820LAMB3c.2966A>C (p.Gln989Pro)
c.173A>C (p.Gln58Pro)
c.2774A>C (p.Gln925Pro)
1g.209617993G>ACA344584822LAMB3c.2965C>T (p.Gln989Ter)
c.172C>T (p.Gln58Ter)
c.2773C>T (p.Gln925Ter)
1g.209617993G>CCA344584823LAMB3c.2965C>G (p.Gln989Glu)
c.172C>G (p.Gln58Glu)
c.2773C>G (p.Gln925Glu)
1g.209617993G>TCA344584824LAMB3c.2965C>A (p.Gln989Lys)
c.172C>A (p.Gln58Lys)
c.2773C>A (p.Gln925Lys)
1g.209617994C>ACA423029780LAMB3c.2964G>T (p.Arg988=)
c.171G>T (p.Arg57=)
c.2772G>T (p.Arg924=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209617994C=CA2484296095LAMB3c.2964G= (p.Arg988=)
c.171G= (p.Arg57=)
c.2772G= (p.Arg924=)
1g.209617994C>GCA423029782LAMB3c.2964G>C (p.Arg988=)
c.171G>C (p.Arg57=)
c.2772G>C (p.Arg924=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617994C>TCA423029781LAMB3c.2964G>A (p.Arg988=)
c.171G>A (p.Arg57=)
c.2772G>A (p.Arg924=)
 gnomAD v4
1g.209617995C>ACA344584825LAMB3c.2963G>T (p.Arg988Leu)
c.170G>T (p.Arg57Leu)
c.2771G>T (p.Arg924Leu)
1g.209617995C=CA1141896771LAMB3c.2963G= (p.Arg988=)
c.170G= (p.Arg57=)
c.2771G= (p.Arg924=)
1g.209617995C>GCA344584826LAMB3c.2963G>C (p.Arg988Pro)
c.170G>C (p.Arg57Pro)
c.2771G>C (p.Arg924Pro)
1g.209617995C>TCA1375032LAMB3c.2963G>A (p.Arg988Gln)
c.170G>A (p.Arg57Gln)
c.2771G>A (p.Arg924Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617996G>ACA1375033LAMB3c.2962C>T (p.Arg988Trp)
c.169C>T (p.Arg57Trp)
c.2770C>T (p.Arg924Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617996G>CCA344584827LAMB3c.2962C>G (p.Arg988Gly)
c.169C>G (p.Arg57Gly)
c.2770C>G (p.Arg924Gly)
1g.209617996G=CA1139922144LAMB3c.2962C= (p.Arg988=)
c.169C= (p.Arg57=)
c.2770C= (p.Arg924=)
1g.209617996G>TCA1375034LAMB3c.2962C>A (p.Arg988=)
c.169C>A (p.Arg57=)
c.2770C>A (p.Arg924=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617997C>ACA423029784LAMB3c.2961G>T (p.Leu987=)
c.168G>T (p.Leu56=)
c.2769G>T (p.Leu923=)
1g.209617997C>GCA423029785LAMB3c.2961G>C (p.Leu987=)
c.168G>C (p.Leu56=)
c.2769G>C (p.Leu923=)
1g.209617997C>TCA423029787LAMB3c.2961G>A (p.Leu987=)
c.168G>A (p.Leu56=)
c.2769G>A (p.Leu923=)
 ClinVar dbSNP COSMIC
1g.209617998A=CA2484296096LAMB3c.2960T= (p.Leu987=)
c.167T= (p.Leu56=)
c.2768T= (p.Leu923=)
1g.209617998A>CCA344584828LAMB3c.2960T>G (p.Leu987Arg)
c.167T>G (p.Leu56Arg)
c.2768T>G (p.Leu923Arg)
1g.209617998A>GCA344584829LAMB3c.2960T>C (p.Leu987Pro)
c.167T>C (p.Leu56Pro)
c.2768T>C (p.Leu923Pro)
 dbSNP
1g.209617998A>TCA344584830LAMB3c.2960T>A (p.Leu987Gln)
c.167T>A (p.Leu56Gln)
c.2768T>A (p.Leu923Gln)
1g.209617999G>ACA423029788LAMB3c.2959C>T (p.Leu987=)
c.166C>T (p.Leu56=)
c.2767C>T (p.Leu923=)
1g.209617999G>CCA344584831LAMB3c.2959C>G (p.Leu987Val)
c.166C>G (p.Leu56Val)
c.2767C>G (p.Leu923Val)
1g.209617999G>TCA344584832LAMB3c.2959C>A (p.Leu987Met)
c.166C>A (p.Leu56Met)
c.2767C>A (p.Leu923Met)
1g.209618000G>ACA423029789LAMB3c.2958C>T (p.Asn986=)
c.165C>T (p.Asn55=)
c.2766C>T (p.Asn922=)
 ClinVar dbSNP gnomAD v4
1g.209618000G>CCA344584833LAMB3c.2958C>G (p.Asn986Lys)
c.165C>G (p.Asn55Lys)
c.2766C>G (p.Asn922Lys)
1g.209618000G>TCA344584834LAMB3c.2958C>A (p.Asn986Lys)
c.165C>A (p.Asn55Lys)
c.2766C>A (p.Asn922Lys)
1g.209618001T>ACA344584835LAMB3c.2957A>T (p.Asn986Ile)
c.164A>T (p.Asn55Ile)
c.2765A>T (p.Asn922Ile)
1g.209618001T>CCA344584836LAMB3c.2957A>G (p.Asn986Ser)
c.164A>G (p.Asn55Ser)
c.2765A>G (p.Asn922Ser)
1g.209618001T>GCA344584837LAMB3c.2957A>C (p.Asn986Thr)
c.164A>C (p.Asn55Thr)
c.2765A>C (p.Asn922Thr)
1g.209618002T>ACA344584840LAMB3c.2956A>T (p.Asn986Tyr)
c.163A>T (p.Asn55Tyr)
c.2764A>T (p.Asn922Tyr)
1g.209618002T>CCA344584839LAMB3c.2956A>G (p.Asn986Asp)
c.163A>G (p.Asn55Asp)
c.2764A>G (p.Asn922Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.209618002T>GCA344584838LAMB3c.2956A>C (p.Asn986His)
c.163A>C (p.Asn55His)
c.2764A>C (p.Asn922His)
1g.209618002T=CA2484296097LAMB3c.2956A= (p.Asn986=)
c.163A= (p.Asn55=)
c.2764A= (p.Asn922=)
1g.209618003C>ACA423029793LAMB3c.2955G>T (p.Gly985=)
c.162G>T (p.Gly54=)
c.2763G>T (p.Gly921=)
1g.209618003C=CA2484296098LAMB3c.2955G= (p.Gly985=)
c.162G= (p.Gly54=)
c.2763G= (p.Gly921=)
1g.209618003C>GCA423029794LAMB3c.2955G>C (p.Gly985=)
c.162G>C (p.Gly54=)
c.2763G>C (p.Gly921=)
1g.209618003C>TCA423029796LAMB3c.2955G>A (p.Gly985=)
c.162G>A (p.Gly54=)
c.2763G>A (p.Gly921=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209618004C>ACA344584841LAMB3c.2954G>T (p.Gly985Val)
c.161G>T (p.Gly54Val)
c.2762G>T (p.Gly921Val)
1g.209618004C>GCA344584842LAMB3c.2954G>C (p.Gly985Ala)
c.161G>C (p.Gly54Ala)
c.2762G>C (p.Gly921Ala)
1g.209618004C>TCA344584843LAMB3c.2954G>A (p.Gly985Glu)
c.161G>A (p.Gly54Glu)
c.2762G>A (p.Gly921Glu)
1g.209618005C>ACA344584844LAMB3c.2953G>T (p.Gly985Trp)
c.160G>T (p.Gly54Trp)
c.2761G>T (p.Gly921Trp)
1g.209618005C>GCA344584845LAMB3c.2953G>C (p.Gly985Arg)
c.160G>C (p.Gly54Arg)
c.2761G>C (p.Gly921Arg)
1g.209618005C>TCA344584846LAMB3c.2953G>A (p.Gly985Arg)
c.160G>A (p.Gly54Arg)
c.2761G>A (p.Gly921Arg)
1g.209618006A>CCA423029800LAMB3c.2952T>G (p.Val984=)
c.159T>G (p.Val53=)
c.2760T>G (p.Val920=)
1g.209618006A>GCA423029801LAMB3c.2952T>C (p.Val984=)
c.159T>C (p.Val53=)
c.2760T>C (p.Val920=)
 ClinVar
1g.209618006A>TCA423029802LAMB3c.2952T>A (p.Val984=)
c.159T>A (p.Val53=)
c.2760T>A (p.Val920=)
1g.209618007A=CA2484296099LAMB3c.2951T= (p.Val984=)
c.158T= (p.Val53=)
c.2759T= (p.Val920=)
1g.209618007A>CCA344584847LAMB3c.2951T>G (p.Val984Gly)
c.158T>G (p.Val53Gly)
c.2759T>G (p.Val920Gly)
1g.209618007A>GCA344584849LAMB3c.2951T>C (p.Val984Ala)
c.158T>C (p.Val53Ala)
c.2759T>C (p.Val920Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.209618007A>TCA344584848LAMB3c.2951T>A (p.Val984Asp)
c.158T>A (p.Val53Asp)
c.2759T>A (p.Val920Asp)
1g.209618008C>ACA344584850LAMB3c.2950G>T (p.Val984Phe)
c.157G>T (p.Val53Phe)
c.2758G>T (p.Val920Phe)
1g.209618008C>GCA344584851LAMB3c.2950G>C (p.Val984Leu)
c.157G>C (p.Val53Leu)
c.2758G>C (p.Val920Leu)
1g.209618008C>TCA344584852LAMB3c.2950G>A (p.Val984Ile)
c.157G>A (p.Val53Ile)
c.2758G>A (p.Val920Ile)
1g.209618009C>ACA423029808LAMB3c.2949G>T (p.Val983=)
c.156G>T (p.Val52=)
c.2757G>T (p.Val919=)
1g.209618009C>GCA423029809LAMB3c.2949G>C (p.Val983=)
c.156G>C (p.Val52=)
c.2757G>C (p.Val919=)
1g.209618009C>TCA423029807LAMB3c.2949G>A (p.Val983=)
c.156G>A (p.Val52=)
c.2757G>A (p.Val919=)
 ClinVar
1g.209618010A>CCA344584853LAMB3c.2948T>G (p.Val983Gly)
c.155T>G (p.Val52Gly)
c.2756T>G (p.Val919Gly)
1g.209618010A>GCA344584854LAMB3c.2948T>C (p.Val983Ala)
c.155T>C (p.Val52Ala)
c.2756T>C (p.Val919Ala)
1g.209618010A>TCA344584855LAMB3c.2948T>A (p.Val983Glu)
c.155T>A (p.Val52Glu)
c.2756T>A (p.Val919Glu)
1g.209618011C>ACA344584856LAMB3c.2947G>T (p.Val983Leu)
c.154G>T (p.Val52Leu)
c.2755G>T (p.Val919Leu)
1g.209618011C>GCA344584857LAMB3c.2947G>C (p.Val983Leu)
c.154G>C (p.Val52Leu)
c.2755G>C (p.Val919Leu)
1g.209618011C>TCA344584858LAMB3c.2947G>A (p.Val983Met)
c.154G>A (p.Val52Met)
c.2755G>A (p.Val919Met)
 gnomAD v4
1g.209618012A=CA2484296100LAMB3c.2946T= (p.Asp982=)
c.153T= (p.Asp51=)
c.2754T= (p.Asp918=)
1g.209618012A>CCA344584859LAMB3c.2946T>G (p.Asp982Glu)
c.153T>G (p.Asp51Glu)
c.2754T>G (p.Asp918Glu)
1g.209618012A>GCA423029811LAMB3c.2946T>C (p.Asp982=)
c.153T>C (p.Asp51=)
c.2754T>C (p.Asp918=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209618012A>TCA344584860LAMB3c.2946T>A (p.Asp982Glu)
c.153T>A (p.Asp51Glu)
c.2754T>A (p.Asp918Glu)
1g.209618013T>ACA344584862LAMB3c.2945A>T (p.Asp982Val)
c.152A>T (p.Asp51Val)
c.2753A>T (p.Asp918Val)
1g.209618013T>CCA1375035LAMB3c.2945A>G (p.Asp982Gly)
c.152A>G (p.Asp51Gly)
c.2753A>G (p.Asp918Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618013T>GCA344584861LAMB3c.2945A>C (p.Asp982Ala)
c.152A>C (p.Asp51Ala)
c.2753A>C (p.Asp918Ala)
1g.209618013T=CA1141763863LAMB3c.2945A= (p.Asp982=)
c.152A= (p.Asp51=)
c.2753A= (p.Asp918=)
1g.209618014C>ACA344584863LAMB3c.2944G>T (p.Asp982Tyr)
c.151G>T (p.Asp51Tyr)
c.2752G>T (p.Asp918Tyr)
1g.209618014C>GCA344584864LAMB3c.2944G>C (p.Asp982His)
c.151G>C (p.Asp51His)
c.2752G>C (p.Asp918His)
1g.209618014C>TCA344584865LAMB3c.2944G>A (p.Asp982Asn)
c.151G>A (p.Asp51Asn)
c.2752G>A (p.Asp918Asn)
 gnomAD v4
1g.209618015T>ACA344584866LAMB3c.2943A>T (p.Glu981Asp)
c.150A>T (p.Glu50Asp)
c.2751A>T (p.Glu917Asp)
1g.209618015T>CCA423029812LAMB3c.2943A>G (p.Glu981=)
c.150A>G (p.Glu50=)
c.2751A>G (p.Glu917=)
 ClinVar
1g.209618015T>GCA344584867LAMB3c.2943A>C (p.Glu981Asp)
c.150A>C (p.Glu50Asp)
c.2751A>C (p.Glu917Asp)
1g.209618016T>ACA344584870LAMB3c.2942A>T (p.Glu981Val)
c.149A>T (p.Glu50Val)
c.2750A>T (p.Glu917Val)
1g.209618016T>CCA344584869LAMB3c.2942A>G (p.Glu981Gly)
c.149A>G (p.Glu50Gly)
c.2750A>G (p.Glu917Gly)
1g.209618016T>GCA344584868LAMB3c.2942A>C (p.Glu981Ala)
c.149A>C (p.Glu50Ala)
c.2750A>C (p.Glu917Ala)
1g.209618017C>ACA344584871LAMB3c.2941G>T (p.Glu981Ter)
c.148G>T (p.Glu50Ter)
c.2749G>T (p.Glu917Ter)
1g.209618017C>GCA344584872LAMB3c.2941G>C (p.Glu981Gln)
c.148G>C (p.Glu50Gln)
c.2749G>C (p.Glu917Gln)
1g.209618017C>TCA344584873LAMB3c.2941G>A (p.Glu981Lys)
c.148G>A (p.Glu50Lys)
c.2749G>A (p.Glu917Lys)
1g.209618018C>ACA1375036LAMB3c.2940G>T (p.Val980=)
c.147G>T (p.Val49=)
c.2748G>T (p.Val916=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618018C=CA2484296101LAMB3c.2940G= (p.Val980=)
c.147G= (p.Val49=)
c.2748G= (p.Val916=)
1g.209618018C>GCA423029814LAMB3c.2940G>C (p.Val980=)
c.147G>C (p.Val49=)
c.2748G>C (p.Val916=)
1g.209618018C>TCA36749925LAMB3c.2940G>A (p.Val980=)
c.147G>A (p.Val49=)
c.2748G>A (p.Val916=)
 dbSNP
1g.209618019A>CCA344584874LAMB3c.2939T>G (p.Val980Gly)
c.146T>G (p.Val49Gly)
c.2747T>G (p.Val916Gly)
1g.209618019A>GCA344584875LAMB3c.2939T>C (p.Val980Ala)
c.146T>C (p.Val49Ala)
c.2747T>C (p.Val916Ala)
1g.209618019A>TCA344584876LAMB3c.2939T>A (p.Val980Glu)
c.146T>A (p.Val49Glu)
c.2747T>A (p.Val916Glu)
1g.209618020C>ACA1375037LAMB3c.2938G>T (p.Val980Leu)
c.145G>T (p.Val49Leu)
c.2746G>T (p.Val916Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618020C=CA2484296102LAMB3c.2938G= (p.Val980=)
c.145G= (p.Val49=)
c.2746G= (p.Val916=)
1g.209618020C>GCA344584878LAMB3c.2938G>C (p.Val980Leu)
c.145G>C (p.Val49Leu)
c.2746G>C (p.Val916Leu)
1g.209618020C>TCA344584877LAMB3c.2938G>A (p.Val980Met)
c.145G>A (p.Val49Met)
c.2746G>A (p.Val916Met)
1g.209618021C>ACA344584879LAMB3c.2937G>T (p.Gln979His)
c.144G>T (p.Gln48His)
c.2745G>T (p.Gln915His)
1g.209618021C=CA2484296103LAMB3c.2937G= (p.Gln979=)
c.144G= (p.Gln48=)
c.2745G= (p.Gln915=)
1g.209618021C>GCA344584880LAMB3c.2937G>C (p.Gln979His)
c.144G>C (p.Gln48His)
c.2745G>C (p.Gln915His)
1g.209618021C>TCA1375038LAMB3c.2937G>A (p.Gln979=)
c.144G>A (p.Gln48=)
c.2745G>A (p.Gln915=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618022T>ACA344584881LAMB3c.2936A>T (p.Gln979Leu)
c.143A>T (p.Gln48Leu)
c.2744A>T (p.Gln915Leu)
1g.209618022T>CCA344584882LAMB3c.2936A>G (p.Gln979Arg)
c.143A>G (p.Gln48Arg)
c.2744A>G (p.Gln915Arg)
1g.209618022T>GCA344584883LAMB3c.2936A>C (p.Gln979Pro)
c.143A>C (p.Gln48Pro)
c.2744A>C (p.Gln915Pro)

Number of alleles fetched