Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209617546C>ACA344584284LAMB3c.3092G>T (p.Ser1031Ile)
c.299G>T (p.Ser100Ile)
c.2900G>T (p.Ser967Ile)
1g.209617546C=CA2484295893LAMB3c.3092G= (p.Ser1031=)
c.299G= (p.Ser100=)
c.2900G= (p.Ser967=)
1g.209617546C>GCA344584285LAMB3c.3092G>C (p.Ser1031Thr)
c.299G>C (p.Ser100Thr)
c.2900G>C (p.Ser967Thr)
1g.209617546C>TCA344584287LAMB3c.3092G>A (p.Ser1031Asn)
c.299G>A (p.Ser100Asn)
c.2900G>A (p.Ser967Asn)
dbSNP
1g.209617547T>ACA344584291LAMB3c.3091A>T (p.Ser1031Cys)
c.298A>T (p.Ser100Cys)
c.2899A>T (p.Ser967Cys)
1g.209617547T>CCA344584298LAMB3c.3091A>G (p.Ser1031Gly)
c.298A>G (p.Ser100Gly)
c.2899A>G (p.Ser967Gly)
1g.209617547T>GCA344584296LAMB3c.3091A>C (p.Ser1031Arg)
c.298A>C (p.Ser100Arg)
c.2899A>C (p.Ser967Arg)
1g.209617548T>ACA423029574LAMB3c.3090A>T (p.Thr1030=)
c.297A>T (p.Thr99=)
c.2898A>T (p.Thr966=)
1g.209617548T>CCA423029575LAMB3c.3090A>G (p.Thr1030=)
c.297A>G (p.Thr99=)
c.2898A>G (p.Thr966=)
1g.209617548T>GCA423029576LAMB3c.3090A>C (p.Thr1030=)
c.297A>C (p.Thr99=)
c.2898A>C (p.Thr966=)
1g.209617549G>ACA1374976LAMB3c.3089C>T (p.Thr1030Ile)
c.296C>T (p.Thr99Ile)
c.2897C>T (p.Thr966Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617549G>CCA1374977LAMB3c.3089C>G (p.Thr1030Arg)
c.296C>G (p.Thr99Arg)
c.2897C>G (p.Thr966Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617549G=CA1143831767LAMB3c.3089C= (p.Thr1030=)
c.296C= (p.Thr99=)
c.2897C= (p.Thr966=)
1g.209617549G>TCA344584303LAMB3c.3089C>A (p.Thr1030Lys)
c.296C>A (p.Thr99Lys)
c.2897C>A (p.Thr966Lys)
1g.209617550T>ACA344584309LAMB3c.3088A>T (p.Thr1030Ser)
c.295A>T (p.Thr99Ser)
c.2896A>T (p.Thr966Ser)
1g.209617550T>CCA344584311LAMB3c.3088A>G (p.Thr1030Ala)
c.295A>G (p.Thr99Ala)
c.2896A>G (p.Thr966Ala)
dbSNP
1g.209617550T>GCA344584312LAMB3c.3088A>C (p.Thr1030Pro)
c.295A>C (p.Thr99Pro)
c.2896A>C (p.Thr966Pro)
1g.209617550T=CA2484295894LAMB3c.3088A= (p.Thr1030=)
c.295A= (p.Thr99=)
c.2896A= (p.Thr966=)
1g.209617551C>ACA423029579LAMB3c.3087G>T (p.Val1029=)
c.294G>T (p.Val98=)
c.2895G>T (p.Val965=)
gnomAD v4
1g.209617551C>GCA423029578LAMB3c.3087G>C (p.Val1029=)
c.294G>C (p.Val98=)
c.2895G>C (p.Val965=)
1g.209617551C>TCA423029577LAMB3c.3087G>A (p.Val1029=)
c.294G>A (p.Val98=)
c.2895G>A (p.Val965=)
1g.209617552A>CCA344584315LAMB3c.3086T>G (p.Val1029Gly)
c.293T>G (p.Val98Gly)
c.2894T>G (p.Val965Gly)
1g.209617552A>GCA344584317LAMB3c.3086T>C (p.Val1029Ala)
c.293T>C (p.Val98Ala)
c.2894T>C (p.Val965Ala)
gnomAD v4
1g.209617552A>TCA344584319LAMB3c.3086T>A (p.Val1029Glu)
c.293T>A (p.Val98Glu)
c.2894T>A (p.Val965Glu)
1g.209617553C>ACA344584323LAMB3c.3085G>T (p.Val1029Leu)
c.292G>T (p.Val98Leu)
c.2893G>T (p.Val965Leu)
1g.209617553C>GCA344584324LAMB3c.3085G>C (p.Val1029Leu)
c.292G>C (p.Val98Leu)
c.2893G>C (p.Val965Leu)
1g.209617553C>TCA344584327LAMB3c.3085G>A (p.Val1029Met)
c.292G>A (p.Val98Met)
c.2893G>A (p.Val965Met)
1g.209617554C>ACA423029580LAMB3c.3084G>T (p.Leu1028=)
c.291G>T (p.Leu97=)
c.2892G>T (p.Leu964=)
1g.209617554C>GCA423029581LAMB3c.3084G>C (p.Leu1028=)
c.291G>C (p.Leu97=)
c.2892G>C (p.Leu964=)
1g.209617554C>TCA423029582LAMB3c.3084G>A (p.Leu1028=)
c.291G>A (p.Leu97=)
c.2892G>A (p.Leu964=)
ClinVar dbSNP
1g.209617555A>CCA344584329LAMB3c.3083T>G (p.Leu1028Arg)
c.290T>G (p.Leu97Arg)
c.2891T>G (p.Leu964Arg)
1g.209617555A>GCA344584330LAMB3c.3083T>C (p.Leu1028Pro)
c.290T>C (p.Leu97Pro)
c.2891T>C (p.Leu964Pro)
1g.209617555A>TCA344584332LAMB3c.3083T>A (p.Leu1028Gln)
c.290T>A (p.Leu97Gln)
c.2891T>A (p.Leu964Gln)
1g.209617556G>ACA423029583LAMB3c.3082C>T (p.Leu1028=)
c.289C>T (p.Leu97=)
c.2890C>T (p.Leu964=)
1g.209617556G>CCA344584335LAMB3c.3082C>G (p.Leu1028Val)
c.289C>G (p.Leu97Val)
c.2890C>G (p.Leu964Val)
1g.209617556G>TCA344584339LAMB3c.3082C>A (p.Leu1028Met)
c.289C>A (p.Leu97Met)
c.2890C>A (p.Leu964Met)
1g.209617557C>ACA344584341LAMB3c.3081G>T (p.Lys1027Asn)
c.288G>T (p.Lys96Asn)
c.2889G>T (p.Lys963Asn)
1g.209617557C>GCA344584344LAMB3c.3081G>C (p.Lys1027Asn)
c.288G>C (p.Lys96Asn)
c.2889G>C (p.Lys963Asn)
1g.209617557C>TCA423029584LAMB3c.3081G>A (p.Lys1027=)
c.288G>A (p.Lys96=)
c.2889G>A (p.Lys963=)
1g.209617558T>ACA344584347LAMB3c.3080A>T (p.Lys1027Met)
c.287A>T (p.Lys96Met)
c.2888A>T (p.Lys963Met)
1g.209617558T>CCA344584349LAMB3c.3080A>G (p.Lys1027Arg)
c.287A>G (p.Lys96Arg)
c.2888A>G (p.Lys963Arg)
dbSNP COSMIC
1g.209617558T>GCA344584351LAMB3c.3080A>C (p.Lys1027Thr)
c.287A>C (p.Lys96Thr)
c.2888A>C (p.Lys963Thr)
1g.209617558T=CA2484295895LAMB3c.3080A= (p.Lys1027=)
c.287A= (p.Lys96=)
c.2888A= (p.Lys963=)
1g.209617559T>ACA344584354LAMB3c.3079A>T (p.Lys1027Ter)
c.286A>T (p.Lys96Ter)
c.2887A>T (p.Lys963Ter)
ClinVar dbSNP
1g.209617559T>CCA344584355LAMB3c.3079A>G (p.Lys1027Glu)
c.286A>G (p.Lys96Glu)
c.2887A>G (p.Lys963Glu)
1g.209617559T>GCA344584358LAMB3c.3079A>C (p.Lys1027Gln)
c.286A>C (p.Lys96Gln)
c.2887A>C (p.Lys963Gln)
1g.209617560T>ACA344584360LAMB3c.3078A>T (p.Glu1026Asp)
c.285A>T (p.Glu95Asp)
c.2886A>T (p.Glu962Asp)
1g.209617560T>CCA423029585LAMB3c.3078A>G (p.Glu1026=)
c.285A>G (p.Glu95=)
c.2886A>G (p.Glu962=)
1g.209617560T>GCA344584362LAMB3c.3078A>C (p.Glu1026Asp)
c.285A>C (p.Glu95Asp)
c.2886A>C (p.Glu962Asp)
1g.209617561T>ACA344584367LAMB3c.3077A>T (p.Glu1026Val)
c.284A>T (p.Glu95Val)
c.2885A>T (p.Glu962Val)
1g.209617561T>CCA344584374LAMB3c.3077A>G (p.Glu1026Gly)
c.284A>G (p.Glu95Gly)
c.2885A>G (p.Glu962Gly)
1g.209617561T>GCA344584365LAMB3c.3077A>C (p.Glu1026Ala)
c.284A>C (p.Glu95Ala)
c.2885A>C (p.Glu962Ala)
1g.209617562C>ACA344584377LAMB3c.3076G>T (p.Glu1026Ter)
c.283G>T (p.Glu95Ter)
c.2884G>T (p.Glu962Ter)
1g.209617562C=CA2484295896LAMB3c.3076G= (p.Glu1026=)
c.283G= (p.Glu95=)
c.2884G= (p.Glu962=)
1g.209617562C>GCA344584379LAMB3c.3076G>C (p.Glu1026Gln)
c.283G>C (p.Glu95Gln)
c.2884G>C (p.Glu962Gln)
dbSNP
1g.209617562C>TCA344584382LAMB3c.3076G>A (p.Glu1026Lys)
c.283G>A (p.Glu95Lys)
c.2884G>A (p.Glu962Lys)
1g.209617563T>ACA423029586LAMB3c.3075A>T (p.Ala1025=)
c.282A>T (p.Ala94=)
c.2883A>T (p.Ala961=)
1g.209617563T>CCA423029587LAMB3c.3075A>G (p.Ala1025=)
c.282A>G (p.Ala94=)
c.2883A>G (p.Ala961=)
gnomAD v4
1g.209617563T>GCA423029588LAMB3c.3075A>C (p.Ala1025=)
c.282A>C (p.Ala94=)
c.2883A>C (p.Ala961=)
gnomAD v4
1g.209617564G>ACA344584385LAMB3c.3074C>T (p.Ala1025Val)
c.281C>T (p.Ala94Val)
c.2882C>T (p.Ala961Val)
1g.209617564G>CCA344584387LAMB3c.3074C>G (p.Ala1025Gly)
c.281C>G (p.Ala94Gly)
c.2882C>G (p.Ala961Gly)
1g.209617564G>TCA344584388LAMB3c.3074C>A (p.Ala1025Glu)
c.281C>A (p.Ala94Glu)
c.2882C>A (p.Ala961Glu)
1g.209617565C>ACA344584389LAMB3c.3073G>T (p.Ala1025Ser)
c.280G>T (p.Ala94Ser)
c.2881G>T (p.Ala961Ser)
1g.209617565C>GCA344584390LAMB3c.3073G>C (p.Ala1025Pro)
c.280G>C (p.Ala94Pro)
c.2881G>C (p.Ala961Pro)
gnomAD v4
1g.209617565C>TCA344584393LAMB3c.3073G>A (p.Ala1025Thr)
c.280G>A (p.Ala94Thr)
c.2881G>A (p.Ala961Thr)
1g.209617566T>ACA423029589LAMB3c.3072A>T (p.Pro1024=)
c.279A>T (p.Pro93=)
c.2880A>T (p.Pro960=)
1g.209617566T>CCA423029590LAMB3c.3072A>G (p.Pro1024=)
c.279A>G (p.Pro93=)
c.2880A>G (p.Pro960=)
1g.209617566T>GCA423029591LAMB3c.3072A>C (p.Pro1024=)
c.279A>C (p.Pro93=)
c.2880A>C (p.Pro960=)
gnomAD v4
1g.209617567G>ACA344584395LAMB3c.3071C>T (p.Pro1024Leu)
c.278C>T (p.Pro93Leu)
c.2879C>T (p.Pro960Leu)
1g.209617567G>CCA344584397LAMB3c.3071C>G (p.Pro1024Arg)
c.278C>G (p.Pro93Arg)
c.2879C>G (p.Pro960Arg)
1g.209617567G>TCA344584399LAMB3c.3071C>A (p.Pro1024Gln)
c.278C>A (p.Pro93Gln)
c.2879C>A (p.Pro960Gln)
1g.209617568G>ACA344584404LAMB3c.3070C>T (p.Pro1024Ser)
c.277C>T (p.Pro93Ser)
c.2878C>T (p.Pro960Ser)
gnomAD v4
1g.209617568G>CCA344584406LAMB3c.3070C>G (p.Pro1024Ala)
c.277C>G (p.Pro93Ala)
c.2878C>G (p.Pro960Ala)
1g.209617568G>TCA344584402LAMB3c.3070C>A (p.Pro1024Thr)
c.277C>A (p.Pro93Thr)
c.2878C>A (p.Pro960Thr)
COSMIC
1g.209617569C>ACA423029592LAMB3c.3069G>T (p.Arg1023=)
c.276G>T (p.Arg92=)
c.2877G>T (p.Arg959=)
dbSNP gnomAD v4
1g.209617569C=CA2484295897LAMB3c.3069G= (p.Arg1023=)
c.276G= (p.Arg92=)
c.2877G= (p.Arg959=)
1g.209617569C>GCA423029593LAMB3c.3069G>C (p.Arg1023=)
c.276G>C (p.Arg92=)
c.2877G>C (p.Arg959=)
1g.209617569C>TCA423029594LAMB3c.3069G>A (p.Arg1023=)
c.276G>A (p.Arg92=)
c.2877G>A (p.Arg959=)
1g.209617570delCA2650320260LAMB3c.3069del (p.Pro1024GlnfsTer6)
c.276del (p.Pro93GlnfsTer6)
c.2877del (p.Pro960GlnfsTer6)
gnomAD v4
1g.209617570C>ACA344584409LAMB3c.3068G>T (p.Arg1023Leu)
c.275G>T (p.Arg92Leu)
c.2876G>T (p.Arg959Leu)
1g.209617570C=CA1142183836LAMB3c.3068G= (p.Arg1023=)
c.275G= (p.Arg92=)
c.2876G= (p.Arg959=)
1g.209617570C>GCA344584412LAMB3c.3068G>C (p.Arg1023Pro)
c.275G>C (p.Arg92Pro)
c.2876G>C (p.Arg959Pro)
1g.209617570C>TCA1374978LAMB3c.3068G>A (p.Arg1023Gln)
c.275G>A (p.Arg92Gln)
c.2876G>A (p.Arg959Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617571G>ACA1374979LAMB3c.3067C>T (p.Arg1023Trp)
c.274C>T (p.Arg92Trp)
c.2875C>T (p.Arg959Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617571G>CCA344584417LAMB3c.3067C>G (p.Arg1023Gly)
c.274C>G (p.Arg92Gly)
c.2875C>G (p.Arg959Gly)
1g.209617571G=CA1143387997LAMB3c.3067C= (p.Arg1023=)
c.274C= (p.Arg92=)
c.2875C= (p.Arg959=)
1g.209617571G>TCA423029595LAMB3c.3067C>A (p.Arg1023=)
c.274C>A (p.Arg92=)
c.2875C>A (p.Arg959=)
1g.209617572C>ACA423029596LAMB3c.3066G>T (p.Leu1022=)
c.273G>T (p.Leu91=)
c.2874G>T (p.Leu958=)
1g.209617572C>GCA423029598LAMB3c.3066G>C (p.Leu1022=)
c.273G>C (p.Leu91=)
c.2874G>C (p.Leu958=)
1g.209617572C>TCA423029597LAMB3c.3066G>A (p.Leu1022=)
c.273G>A (p.Leu91=)
c.2874G>A (p.Leu958=)
ClinVar dbSNP gnomAD v4
1g.209617573A>CCA344584423LAMB3c.3065T>G (p.Leu1022Arg)
c.272T>G (p.Leu91Arg)
c.2873T>G (p.Leu958Arg)
1g.209617573A>GCA344584419LAMB3c.3065T>C (p.Leu1022Pro)
c.272T>C (p.Leu91Pro)
c.2873T>C (p.Leu958Pro)
1g.209617573A>TCA344584421LAMB3c.3065T>A (p.Leu1022Gln)
c.272T>A (p.Leu91Gln)
c.2873T>A (p.Leu958Gln)
1g.209617574G>ACA423029599LAMB3c.3064C>T (p.Leu1022=)
c.271C>T (p.Leu91=)
c.2872C>T (p.Leu958=)
COSMIC
1g.209617574G>CCA344584427LAMB3c.3064C>G (p.Leu1022Val)
c.271C>G (p.Leu91Val)
c.2872C>G (p.Leu958Val)
1g.209617574G>TCA344584429LAMB3c.3064C>A (p.Leu1022Met)
c.271C>A (p.Leu91Met)
c.2872C>A (p.Leu958Met)
1g.209617575T>ACA423029600LAMB3c.3063A>T (p.Val1021=)
c.270A>T (p.Val90=)
c.2871A>T (p.Val957=)
dbSNP gnomAD v2 gnomAD v4
1g.209617575T>CCA423029601LAMB3c.3063A>G (p.Val1021=)
c.270A>G (p.Val90=)
c.2871A>G (p.Val957=)
1g.209617575T>GCA423029602LAMB3c.3063A>C (p.Val1021=)
c.270A>C (p.Val90=)
c.2871A>C (p.Val957=)
1g.209617575T=CA2484295898LAMB3c.3063A= (p.Val1021=)
c.270A= (p.Val90=)
c.2871A= (p.Val957=)
1g.209617576A>CCA344584433LAMB3c.3062T>G (p.Val1021Gly)
c.269T>G (p.Val90Gly)
c.2870T>G (p.Val957Gly)
1g.209617576A>GCA344584435LAMB3c.3062T>C (p.Val1021Ala)
c.269T>C (p.Val90Ala)
c.2870T>C (p.Val957Ala)
1g.209617576A>TCA344584437LAMB3c.3062T>A (p.Val1021Glu)
c.269T>A (p.Val90Glu)
c.2870T>A (p.Val957Glu)
1g.209617576_209617577insGCA2747561720LAMB3c.3061_3062insC (p.Val1021AlafsTer18)
c.268_269insC (p.Val90AlafsTer18)
c.2869_2870insC (p.Val957AlafsTer18)
1g.209617577C>ACA1374981LAMB3c.3061G>T (p.Val1021Leu)
c.268G>T (p.Val90Leu)
c.2869G>T (p.Val957Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617577C=CA1144144129LAMB3c.3061G= (p.Val1021=)
c.268G= (p.Val90=)
c.2869G= (p.Val957=)
1g.209617577C>GCA1374980LAMB3c.3061G>C (p.Val1021Leu)
c.268G>C (p.Val90Leu)
c.2869G>C (p.Val957Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617577C>TCA344584440LAMB3c.3061G>A (p.Val1021Ile)
c.268G>A (p.Val90Ile)
c.2869G>A (p.Val957Ile)
1g.209617577_209617578insTTTTCA2747561722LAMB3c.3060_3061insAAAA (p.Val1021LysfsTer19)
c.267_268insAAAA (p.Val90LysfsTer19)
c.2868_2869insAAAA (p.Val957LysfsTer19)
1g.209617578C>ACA344584445LAMB3c.3060G>T (p.Gln1020His)
c.267G>T (p.Gln89His)
c.2868G>T (p.Gln956His)
1g.209617578C>GCA344584448LAMB3c.3060G>C (p.Gln1020His)
c.267G>C (p.Gln89His)
c.2868G>C (p.Gln956His)
gnomAD v4
1g.209617578C>TCA423029603LAMB3c.3060G>A (p.Gln1020=)
c.267G>A (p.Gln89=)
c.2868G>A (p.Gln956=)
1g.209617579T>ACA344584451LAMB3c.3059A>T (p.Gln1020Leu)
c.266A>T (p.Gln89Leu)
c.2867A>T (p.Gln956Leu)
1g.209617579T>CCA344584457LAMB3c.3059A>G (p.Gln1020Arg)
c.266A>G (p.Gln89Arg)
c.2867A>G (p.Gln956Arg)
1g.209617579T>GCA344584455LAMB3c.3059A>C (p.Gln1020Pro)
c.266A>C (p.Gln89Pro)
c.2867A>C (p.Gln956Pro)
COSMIC
1g.209617580G>ACA344584459LAMB3c.3058C>T (p.Gln1020Ter)
c.265C>T (p.Gln89Ter)
c.2866C>T (p.Gln956Ter)
1g.209617580G>CCA344584461LAMB3c.3058C>G (p.Gln1020Glu)
c.265C>G (p.Gln89Glu)
c.2866C>G (p.Gln956Glu)
1g.209617580G>TCA344584463LAMB3c.3058C>A (p.Gln1020Lys)
c.265C>A (p.Gln89Lys)
c.2866C>A (p.Gln956Lys)
1g.209617581C>ACA344584465LAMB3c.3057G>T (p.Gln1019His)
c.264G>T (p.Gln88His)
c.2865G>T (p.Gln955His)
1g.209617581C>GCA344584466LAMB3c.3057G>C (p.Gln1019His)
c.264G>C (p.Gln88His)
c.2865G>C (p.Gln955His)
gnomAD v4
1g.209617581C>TCA423029604LAMB3c.3057G>A (p.Gln1019=)
c.264G>A (p.Gln88=)
c.2865G>A (p.Gln955=)
1g.209617582T>ACA344584470LAMB3c.3056A>T (p.Gln1019Leu)
c.263A>T (p.Gln88Leu)
c.2864A>T (p.Gln955Leu)
COSMIC
1g.209617582T>CCA344584472LAMB3c.3056A>G (p.Gln1019Arg)
c.263A>G (p.Gln88Arg)
c.2864A>G (p.Gln955Arg)
gnomAD v4
1g.209617582T>GCA344584474LAMB3c.3056A>C (p.Gln1019Pro)
c.263A>C (p.Gln88Pro)
c.2864A>C (p.Gln955Pro)
1g.209617583G>ACA344584477LAMB3c.3055C>T (p.Gln1019Ter)
c.262C>T (p.Gln88Ter)
c.2863C>T (p.Gln955Ter)
ClinVar dbSNP
1g.209617583G>CCA344584479LAMB3c.3055C>G (p.Gln1019Glu)
c.262C>G (p.Gln88Glu)
c.2863C>G (p.Gln955Glu)
1g.209617583G=CA2484295899LAMB3c.3055C= (p.Gln1019=)
c.262C= (p.Gln88=)
c.2863C= (p.Gln955=)
1g.209617583G>TCA344584481LAMB3c.3055C>A (p.Gln1019Lys)
c.262C>A (p.Gln88Lys)
c.2863C>A (p.Gln955Lys)
1g.209617584A>CCA423029605LAMB3c.3054T>G (p.Val1018=)
c.261T>G (p.Val87=)
c.2862T>G (p.Val954=)
1g.209617584A>GCA423029607LAMB3c.3054T>C (p.Val1018=)
c.261T>C (p.Val87=)
c.2862T>C (p.Val954=)
1g.209617584A>TCA423029606LAMB3c.3054T>A (p.Val1018=)
c.261T>A (p.Val87=)
c.2862T>A (p.Val954=)
1g.209617585A=CA2484295901LAMB3c.3053T= (p.Val1018=)
c.260T= (p.Val87=)
c.2861T= (p.Val954=)
1g.209617585A>CCA344584488LAMB3c.3053T>G (p.Val1018Gly)
c.260T>G (p.Val87Gly)
c.2861T>G (p.Val954Gly)
1g.209617585A>GCA344584486LAMB3c.3053T>C (p.Val1018Ala)
c.260T>C (p.Val87Ala)
c.2861T>C (p.Val954Ala)
dbSNP gnomAD v3 gnomAD v4
1g.209617585A>TCA344584484LAMB3c.3053T>A (p.Val1018Asp)
c.260T>A (p.Val87Asp)
c.2861T>A (p.Val954Asp)
1g.209617585_209617586delinsACCA2484295900LAMB3c.3052_3053delinsGT (p.Val1018=)
c.259_260delinsGT (p.Val87=)
c.2860_2861delinsGT (p.Val954=)
1g.209617586C>ACA344584491LAMB3c.3052G>T (p.Val1018Phe)
c.259G>T (p.Val87Phe)
c.2860G>T (p.Val954Phe)
gnomAD v4
1g.209617586C=CA2484295902LAMB3c.3052G= (p.Val1018=)
c.259G= (p.Val87=)
c.2860G= (p.Val954=)
1g.209617586C>GCA344584493LAMB3c.3052G>C (p.Val1018Leu)
c.259G>C (p.Val87Leu)
c.2860G>C (p.Val954Leu)
1g.209617586C>TCA1374982LAMB3c.3052G>A (p.Val1018Ile)
c.259G>A (p.Val87Ile)
c.2860G>A (p.Val954Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617587delCA915941992LAMB3c.3052del
c.259del
c.2860del
ClinVar dbSNP
1g.209617587C>ACA344584498LAMB3c.3052-1G>T (n.3052-1G>T)
c.259-1G>T (n.259-1G>T)
c.2860-1G>T (n.2860-1G>T)
1g.209617587C=CA2484295903LAMB3c.3052-1G= (n.3052-1G=)
c.259-1G= (n.259-1G=)
c.2860-1G= (n.2860-1G=)
1g.209617587C>GCA344584499LAMB3c.3052-1G>C (n.3052-1G>C)
c.259-1G>C (n.259-1G>C)
c.2860-1G>C (n.2860-1G>C)
1g.209617587C>TCA1374983LAMB3c.3052-1G>A (n.3052-1G>A)
c.259-1G>A (n.259-1G>A)
c.2860-1G>A (n.2860-1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617588T>ACA344584504LAMB3c.3052-2A>T (n.3052-2A>T)
c.259-2A>T (n.259-2A>T)
c.2860-2A>T (n.2860-2A>T)
1g.209617588T>CCA344584509LAMB3c.3052-2A>G (n.3052-2A>G)
c.259-2A>G (n.259-2A>G)
c.2860-2A>G (n.2860-2A>G)
1g.209617588T>GCA344584510LAMB3c.3052-2A>C (n.3052-2A>C)
c.259-2A>C (n.259-2A>C)
c.2860-2A>C (n.2860-2A>C)
1g.209617589T>CCA36749617LAMB3c.3052-3A>G (n.3052-3A>G)
c.259-3A>G (n.259-3A>G)
c.2860-3A>G (n.2860-3A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617589T=CA2484295904LAMB3c.3052-3A= (n.3052-3A=)
c.259-3A= (n.259-3A=)
c.2860-3A= (n.2860-3A=)
1g.209617591G>CCA2586967984LAMB3c.3052-5C>G (n.3052-5C>G)
c.259-5C>G (n.259-5C>G)
c.2860-5C>G (n.2860-5C>G)
1g.209617592T>CCA36749618LAMB3c.3052-6A>G (n.3052-6A>G)
c.259-6A>G (n.259-6A>G)
c.2860-6A>G (n.2860-6A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209617592T=CA2484295905LAMB3c.3052-6A= (n.3052-6A=)
c.259-6A= (n.259-6A=)
c.2860-6A= (n.2860-6A=)
1g.209617593G>CCA730846219LAMB3c.3052-7C>G (n.3052-7C>G)
c.259-7C>G (n.259-7C>G)
c.2860-7C>G (n.2860-7C>G)
dbSNP
1g.209617593G=CA2484295906LAMB3c.3052-7C= (n.3052-7C=)
c.259-7C= (n.259-7C=)
c.2860-7C= (n.2860-7C=)
1g.209617594G>ACA2607036465LAMB3c.3052-8C>T (n.3052-8C>T)
c.259-8C>T (n.259-8C>T)
c.2860-8C>T (n.2860-8C>T)
dbSNP gnomAD v3 gnomAD v4
1g.209617594G>CCA730846220LAMB3c.3052-8C>G (n.3052-8C>G)
c.259-8C>G (n.259-8C>G)
c.2860-8C>G (n.2860-8C>G)
dbSNP gnomAD v4
1g.209617594G=CA2484295907LAMB3c.3052-8C= (n.3052-8C=)
c.259-8C= (n.259-8C=)
c.2860-8C= (n.2860-8C=)
1g.209617594G>TCA2650320261LAMB3c.3052-8C>A (n.3052-8C>A)
c.259-8C>A (n.259-8C>A)
c.2860-8C>A (n.2860-8C>A)
gnomAD v4
1g.209617595A>CCA2697554863LAMB3c.3052-9T>G (n.3052-9T>G)
c.259-9T>G (n.259-9T>G)
c.2860-9T>G (n.2860-9T>G)
ClinVar
1g.209617596A=CA2484295908LAMB3c.3052-10T= (n.3052-10T=)
c.259-10T= (n.259-10T=)
c.2860-10T= (n.2860-10T=)
1g.209617596A>GCA2650320262LAMB3c.3052-10T>C (n.3052-10T>C)
c.259-10T>C (n.259-10T>C)
c.2860-10T>C (n.2860-10T>C)
gnomAD v4
1g.209617596A>TCA36749619LAMB3c.3052-10T>A (n.3052-10T>A)
c.259-10T>A (n.259-10T>A)
c.2860-10T>A (n.2860-10T>A)
dbSNP gnomAD v3 gnomAD v4
1g.209617597A=CA1143619329LAMB3c.3052-11T= (n.3052-11T=)
c.259-11T= (n.259-11T=)
c.2860-11T= (n.2860-11T=)
1g.209617597A>GCA1374984LAMB3c.3052-11T>C (n.3052-11T>C)
c.259-11T>C (n.259-11T>C)
c.2860-11T>C (n.2860-11T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617598G>ACA1374985LAMB3c.3052-12C>T (n.3052-12C>T)
c.259-12C>T (n.259-12C>T)
c.2860-12C>T (n.2860-12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617598G>CCA2484295909LAMB3c.3052-12C>G (n.3052-12C>G)
c.259-12C>G (n.259-12C>G)
c.2860-12C>G (n.2860-12C>G)
dbSNP
1g.209617598G=CA1143798437LAMB3c.3052-12C= (n.3052-12C=)
c.259-12C= (n.259-12C=)
c.2860-12C= (n.2860-12C=)
1g.209617599A=CA2484295910LAMB3c.3052-13T= (n.3052-13T=)
c.259-13T= (n.259-13T=)
c.2860-13T= (n.2860-13T=)
1g.209617599A>CCA529000155LAMB3c.3052-13T>G (n.3052-13T>G)
c.259-13T>G (n.259-13T>G)
c.2860-13T>G (n.2860-13T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617599A>TCA423029608LAMB3c.3052-13T>A (n.3052-13T>A)
c.259-13T>A (n.259-13T>A)
c.2860-13T>A (n.2860-13T>A)
1g.209617600G>ACA1374986LAMB3c.3052-14C>T (n.3052-14C>T)
c.259-14C>T (n.259-14C>T)
c.2860-14C>T (n.2860-14C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617600G=CA2484295911LAMB3c.3052-14C= (n.3052-14C=)
c.259-14C= (n.259-14C=)
c.2860-14C= (n.2860-14C=)
1g.209617600G>TCA2650320263LAMB3c.3052-14C>A (n.3052-14C>A)
c.259-14C>A (n.259-14C>A)
c.2860-14C>A (n.2860-14C>A)
gnomAD v4
1g.209617601G>ACA2650320264LAMB3c.3052-15C>T (n.3052-15C>T)
c.259-15C>T (n.259-15C>T)
c.2860-15C>T (n.2860-15C>T)
gnomAD v4
1g.209617603A=CA2484295912LAMB3c.3052-17T= (n.3052-17T=)
c.259-17T= (n.259-17T=)
c.2860-17T= (n.2860-17T=)
1g.209617603A>CCA1374987LAMB3c.3052-17T>G (n.3052-17T>G)
c.259-17T>G (n.259-17T>G)
c.2860-17T>G (n.2860-17T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617604G>ACA1374988LAMB3c.3052-18C>T (n.3052-18C>T)
c.259-18C>T (n.259-18C>T)
c.2860-18C>T (n.2860-18C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.209617604G=CA2484295913LAMB3c.3052-18C= (n.3052-18C=)
c.259-18C= (n.259-18C=)
c.2860-18C= (n.2860-18C=)
1g.209617606T>GCA730846253LAMB3c.3052-20A>C (n.3052-20A>C)
c.259-20A>C (n.259-20A>C)
c.2860-20A>C (n.2860-20A>C)
dbSNP gnomAD v3 gnomAD v4
1g.209617606T=CA2484295914LAMB3c.3052-20A= (n.3052-20A=)
c.259-20A= (n.259-20A=)
c.2860-20A= (n.2860-20A=)
1g.209617607_209617608delCA2573997832LAMB3c.3052-21_3052-20del (n.3052-21_3052-20del)
c.259-21_259-20del (n.259-21_259-20del)
c.2860-21_2860-20del (n.2860-21_2860-20del)
1g.209617609G>ACA2484295916LAMB3c.3052-23C>T (n.3052-23C>T)
c.259-23C>T (n.259-23C>T)
c.2860-23C>T (n.2860-23C>T)
dbSNP
1g.209617609G=CA2484295915LAMB3c.3052-23C= (n.3052-23C=)
c.259-23C= (n.259-23C=)
c.2860-23C= (n.2860-23C=)
1g.209617610G>ACA2573655847LAMB3c.3052-24C>T (n.3052-24C>T)
c.259-24C>T (n.259-24C>T)
c.2860-24C>T (n.2860-24C>T)
1g.209617611C>ACA1374989LAMB3c.3052-25G>T (n.3052-25G>T)
c.259-25G>T (n.259-25G>T)
c.2860-25G>T (n.2860-25G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617611C=CA2484295917LAMB3c.3052-25G= (n.3052-25G=)
c.259-25G= (n.259-25G=)
c.2860-25G= (n.2860-25G=)
1g.209617611C>TCA529000156LAMB3c.3052-25G>A (n.3052-25G>A)
c.259-25G>A (n.259-25G>A)
c.2860-25G>A (n.2860-25G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617615T>CCA2650320265LAMB3c.3052-29A>G (n.3052-29A>G)
c.259-29A>G (n.259-29A>G)
c.2860-29A>G (n.2860-29A>G)
gnomAD v4
1g.209617616G>CCA2650320266LAMB3c.3052-30C>G (n.3052-30C>G)
c.259-30C>G (n.259-30C>G)
c.2860-30C>G (n.2860-30C>G)
gnomAD v4
1g.209617616G=CA2484295918LAMB3c.3052-30C= (n.3052-30C=)
c.259-30C= (n.259-30C=)
c.2860-30C= (n.2860-30C=)
1g.209617616G>TCA529000157LAMB3c.3052-30C>A (n.3052-30C>A)
c.259-30C>A (n.259-30C>A)
c.2860-30C>A (n.2860-30C>A)
dbSNP gnomAD v2 gnomAD v4
1g.209617617T>CCA1374990LAMB3c.3052-31A>G (n.3052-31A>G)
c.259-31A>G (n.259-31A>G)
c.2860-31A>G (n.2860-31A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617617T=CA2484295919LAMB3c.3052-31A= (n.3052-31A=)
c.259-31A= (n.259-31A=)
c.2860-31A= (n.2860-31A=)
1g.209617618G>ACA529000158LAMB3c.3052-32C>T (n.3052-32C>T)
c.259-32C>T (n.259-32C>T)
c.2860-32C>T (n.2860-32C>T)
dbSNP gnomAD v2 gnomAD v4
1g.209617618G>CCA529000159LAMB3c.3052-32C>G (n.3052-32C>G)
c.259-32C>G (n.259-32C>G)
c.2860-32C>G (n.2860-32C>G)
dbSNP gnomAD v2 gnomAD v4
1g.209617618G=CA2484295920LAMB3c.3052-32C= (n.3052-32C=)
c.259-32C= (n.259-32C=)
c.2860-32C= (n.2860-32C=)
1g.209617619G>ACA1374991LAMB3c.3052-33C>T (n.3052-33C>T)
c.259-33C>T (n.259-33C>T)
c.2860-33C>T (n.2860-33C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617619G=CA1147392929LAMB3c.3052-33C= (n.3052-33C=)
c.259-33C= (n.259-33C=)
c.2860-33C= (n.2860-33C=)
1g.209617619G>TCA36749633LAMB3c.3052-33C>A (n.3052-33C>A)
c.259-33C>A (n.259-33C>A)
c.2860-33C>A (n.2860-33C>A)
dbSNP gnomAD v3 gnomAD v4
1g.209617620_209617621dupCA2650320267LAMB3c.3052-34_3052-33dup (n.3052-34_3052-33dup)
c.259-34_259-33dup (n.259-34_259-33dup)
c.2860-34_2860-33dup (n.2860-34_2860-33dup)
gnomAD v4
1g.209617620T>CCA2484295922LAMB3c.3052-34A>G (n.3052-34A>G)
c.259-34A>G (n.259-34A>G)
c.2860-34A>G (n.2860-34A>G)
dbSNP gnomAD v4
1g.209617620T=CA2484295921LAMB3c.3052-34A= (n.3052-34A=)
c.259-34A= (n.259-34A=)
c.2860-34A= (n.2860-34A=)
1g.209617621G=CA2484295923LAMB3c.3052-35C= (n.3052-35C=)
c.259-35C= (n.259-35C=)
c.2860-35C= (n.2860-35C=)
1g.209617621G>TCA529000160LAMB3c.3052-35C>A (n.3052-35C>A)
c.259-35C>A (n.259-35C>A)
c.2860-35C>A (n.2860-35C>A)
dbSNP gnomAD v2 gnomAD v4
1g.209617623G>ACA2650320268LAMB3c.3052-37C>T (n.3052-37C>T)
c.259-37C>T (n.259-37C>T)
c.2860-37C>T (n.2860-37C>T)
gnomAD v4
1g.209617623G>CCA2650320269LAMB3c.3052-37C>G (n.3052-37C>G)
c.259-37C>G (n.259-37C>G)
c.2860-37C>G (n.2860-37C>G)
gnomAD v4
1g.209617623_209617625delinsGTCCA2484295924LAMB3c.3052-39_3052-37delinsGAC (n.3052-39_3052-37delinsGAC)
c.259-39_259-37delinsGAC (n.259-39_259-37delinsGAC)
c.2860-39_2860-37delinsGAC (n.2860-39_2860-37delinsGAC)
1g.209617624T>GCA2484295925LAMB3c.3052-38A>C (n.3052-38A>C)
c.259-38A>C (n.259-38A>C)
c.2860-38A>C (n.2860-38A>C)
dbSNP
1g.209617624T=CA2484295926LAMB3c.3052-38A= (n.3052-38A=)
c.259-38A= (n.259-38A=)
c.2860-38A= (n.2860-38A=)
1g.209617626_209617627delCA1011766156LAMB3c.3052-39_3052-38del (n.3052-39_3052-38del)
c.259-39_259-38del (n.259-39_259-38del)
c.2860-39_2860-38del (n.2860-39_2860-38del)
dbSNP gnomAD v3 gnomAD v4
1g.209617625C>GCA2747561732LAMB3c.3052-39G>C (n.3052-39G>C)
c.259-39G>C (n.259-39G>C)
c.2860-39G>C (n.2860-39G>C)
1g.209617627C>GCA2747561734LAMB3c.3052-41G>C (n.3052-41G>C)
c.259-41G>C (n.259-41G>C)
c.2860-41G>C (n.2860-41G>C)
1g.209617627C>TCA2573997957LAMB3c.3052-41G>A (n.3052-41G>A)
c.259-41G>A (n.259-41G>A)
c.2860-41G>A (n.2860-41G>A)
1g.209617628A=CA2484295927LAMB3c.3052-42T= (n.3052-42T=)
c.259-42T= (n.259-42T=)
c.2860-42T= (n.2860-42T=)
1g.209617628A>CCA2650320270LAMB3c.3052-42T>G (n.3052-42T>G)
c.259-42T>G (n.259-42T>G)
c.2860-42T>G (n.2860-42T>G)
gnomAD v4
1g.209617628A>TCA529000161LAMB3c.3052-42T>A (n.3052-42T>A)
c.259-42T>A (n.259-42T>A)
c.2860-42T>A (n.2860-42T>A)
dbSNP gnomAD v2 gnomAD v4
1g.209617628_209617629insATCA1011766157LAMB3c.3052-43_3052-42insAT (n.3052-43_3052-42insAT)
c.259-43_259-42insAT (n.259-43_259-42insAT)
c.2860-43_2860-42insAT (n.2860-43_2860-42insAT)
dbSNP gnomAD v3 gnomAD v4
1g.209617629T>CCA2650320271LAMB3c.3052-43A>G (n.3052-43A>G)
c.259-43A>G (n.259-43A>G)
c.2860-43A>G (n.2860-43A>G)
gnomAD v4
1g.209617630A=CA1148883099LAMB3c.3052-44T= (n.3052-44T=)
c.259-44T= (n.259-44T=)
c.2860-44T= (n.2860-44T=)
1g.209617630A>GCA1374992LAMB3c.3052-44T>C (n.3052-44T>C)
c.259-44T>C (n.259-44T>C)
c.2860-44T>C (n.2860-44T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617631G>TCA2650320272LAMB3c.3052-45C>A (n.3052-45C>A)
c.259-45C>A (n.259-45C>A)
c.2860-45C>A (n.2860-45C>A)
gnomAD v4
1g.209617632G>ACA1374994LAMB3c.3052-46C>T (n.3052-46C>T)
c.259-46C>T (n.259-46C>T)
c.2860-46C>T (n.2860-46C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617632G=CA1143495822LAMB3c.3052-46C= (n.3052-46C=)
c.259-46C= (n.259-46C=)
c.2860-46C= (n.2860-46C=)
1g.209617632G>TCA1374993LAMB3c.3052-46C>A (n.3052-46C>A)
c.259-46C>A (n.259-46C>A)
c.2860-46C>A (n.2860-46C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617633T>CCA2650320273LAMB3c.3052-47A>G (n.3052-47A>G)
c.259-47A>G (n.259-47A>G)
c.2860-47A>G (n.2860-47A>G)
gnomAD v4
1g.209617634C>ACA2650320274LAMB3c.3052-48G>T (n.3052-48G>T)
c.259-48G>T (n.259-48G>T)
c.2860-48G>T (n.2860-48G>T)
gnomAD v4
1g.209617634C=CA1144052366LAMB3c.3052-48G= (n.3052-48G=)
c.259-48G= (n.259-48G=)
c.2860-48G= (n.2860-48G=)
1g.209617634C>GCA2697843664LAMB3c.3052-48G>C (n.3052-48G>C)
c.259-48G>C (n.259-48G>C)
c.2860-48G>C (n.2860-48G>C)
dbSNP
1g.209617634C>TCA1374995LAMB3c.3052-48G>A (n.3052-48G>A)
c.259-48G>A (n.259-48G>A)
c.2860-48G>A (n.2860-48G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617635G>ACA1374996LAMB3c.3052-49C>T (n.3052-49C>T)
c.259-49C>T (n.259-49C>T)
c.2860-49C>T (n.2860-49C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617635G=CA1146254334LAMB3c.3052-49C= (n.3052-49C=)
c.259-49C= (n.259-49C=)
c.2860-49C= (n.2860-49C=)
1g.209617635G>TCA730846281LAMB3c.3052-49C>A (n.3052-49C>A)
c.259-49C>A (n.259-49C>A)
c.2860-49C>A (n.2860-49C>A)
dbSNP gnomAD v4
1g.209617640dupCA529000162LAMB3c.3052-49dup (n.3052-49dup)
c.259-49dup (n.259-49dup)
c.2860-49dup (n.2860-49dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617640delCA2573997968LAMB3c.3052-49del (n.3052-49del)
c.259-49del (n.259-49del)
c.2860-49del (n.2860-49del)
gnomAD v4
1g.209617636G>ACA1374997LAMB3c.3052-50C>T (n.3052-50C>T)
c.259-50C>T (n.259-50C>T)
c.2860-50C>T (n.2860-50C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617636G>CCA2650320275LAMB3c.3052-50C>G (n.3052-50C>G)
c.259-50C>G (n.259-50C>G)
c.2860-50C>G (n.2860-50C>G)
gnomAD v4
1g.209617636G=CA2484295928LAMB3c.3052-50C= (n.3052-50C=)
c.259-50C= (n.259-50C=)
c.2860-50C= (n.2860-50C=)
1g.209617637G>ACA529000163LAMB3c.3052-51C>T (n.3052-51C>T)
c.259-51C>T (n.259-51C>T)
c.2860-51C>T (n.2860-51C>T)
dbSNP gnomAD v2 gnomAD v4
1g.209617637G=CA2484295929LAMB3c.3052-51C= (n.3052-51C=)
c.259-51C= (n.259-51C=)
c.2860-51C= (n.2860-51C=)
1g.209617637G>TCA2650320276LAMB3c.3052-51C>A (n.3052-51C>A)
c.259-51C>A (n.259-51C>A)
c.2860-51C>A (n.2860-51C>A)
gnomAD v4
1g.209617638G>TCA2573997985LAMB3c.3052-52C>A (n.3052-52C>A)
c.259-52C>A (n.259-52C>A)
c.2860-52C>A (n.2860-52C>A)
1g.209617639G>ACA2650320277LAMB3c.3052-53C>T (n.3052-53C>T)
c.259-53C>T (n.259-53C>T)
c.2860-53C>T (n.2860-53C>T)
gnomAD v4
1g.209617639G>CCA2484295931LAMB3c.3052-53C>G (n.3052-53C>G)
c.259-53C>G (n.259-53C>G)
c.2860-53C>G (n.2860-53C>G)
dbSNP gnomAD v4
1g.209617639G=CA2484295930LAMB3c.3052-53C= (n.3052-53C=)
c.259-53C= (n.259-53C=)
c.2860-53C= (n.2860-53C=)
1g.209617639G>TCA2484295932LAMB3c.3052-53C>A (n.3052-53C>A)
c.259-53C>A (n.259-53C>A)
c.2860-53C>A (n.2860-53C>A)
dbSNP gnomAD v3 gnomAD v4
1g.209617640G>ACA2573997989LAMB3c.3052-54C>T (n.3052-54C>T)
c.259-54C>T (n.259-54C>T)
c.2860-54C>T (n.2860-54C>T)
gnomAD v4
1g.209617640G>TCA2650320278LAMB3c.3052-54C>A (n.3052-54C>A)
c.259-54C>A (n.259-54C>A)
c.2860-54C>A (n.2860-54C>A)
gnomAD v4
1g.209617641T>CCA2650320279LAMB3c.3052-55A>G (n.3052-55A>G)
c.259-55A>G (n.259-55A>G)
c.2860-55A>G (n.2860-55A>G)
gnomAD v4
1g.209617641T>GCA1011766159LAMB3c.3052-55A>C (n.3052-55A>C)
c.259-55A>C (n.259-55A>C)
c.2860-55A>C (n.2860-55A>C)
dbSNP gnomAD v3 gnomAD v4
1g.209617641T=CA2484295933LAMB3c.3052-55A= (n.3052-55A=)
c.259-55A= (n.259-55A=)
c.2860-55A= (n.2860-55A=)
1g.209617643C>ACA2484295935LAMB3c.3052-57G>T (n.3052-57G>T)
c.259-57G>T (n.259-57G>T)
c.2860-57G>T (n.2860-57G>T)
dbSNP gnomAD v4
1g.209617643C=CA2484295934LAMB3c.3052-57G= (n.3052-57G=)
c.259-57G= (n.259-57G=)
c.2860-57G= (n.2860-57G=)
1g.209617645T>CCA36749647LAMB3c.3052-59A>G (n.3052-59A>G)
c.259-59A>G (n.259-59A>G)
c.2860-59A>G (n.2860-59A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617645T=CA2484295936LAMB3c.3052-59A= (n.3052-59A=)
c.259-59A= (n.259-59A=)
c.2860-59A= (n.2860-59A=)
1g.209617646C>TCA2650320280LAMB3c.3052-60G>A (n.3052-60G>A)
c.259-60G>A (n.259-60G>A)
c.2860-60G>A (n.2860-60G>A)
gnomAD v4
1g.209617646_209617649delinsCCCCCA1140559106LAMB3c.3052-63_3052-60delinsGGGG (n.3052-63_3052-60delinsGGGG)
c.259-63_259-60delinsGGGG (n.259-63_259-60delinsGGGG)
c.2860-63_2860-60delinsGGGG (n.2860-63_2860-60delinsGGGG)
1g.209617649dupCA36749651LAMB3c.3052-60dup (n.3052-60dup)
c.259-60dup (n.259-60dup)
c.2860-60dup (n.2860-60dup)
dbSNP
1g.209617649delCA2573998005LAMB3c.3052-60del (n.3052-60del)
c.259-60del (n.259-60del)
c.2860-60del (n.2860-60del)

Number of alleles fetched