Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209618459C>ACA344584964LAMB3c.2902G>T (p.Glu968Ter)
c.109G>T (p.Glu37Ter)
c.2710G>T (p.Glu904Ter)
1g.209618459C>GCA344584965LAMB3c.2902G>C (p.Glu968Gln)
c.109G>C (p.Glu37Gln)
c.2710G>C (p.Glu904Gln)
1g.209618459C>TCA344584963LAMB3c.2902G>A (p.Glu968Lys)
c.109G>A (p.Glu37Lys)
c.2710G>A (p.Glu904Lys)
1g.209618468_209618473dupCA2573999136LAMB3c.2897_2902dup (p.Glu967_Glu968insAlaGlu)
c.104_109dup (p.Glu36_Glu37insAlaGlu)
c.2705_2710dup (p.Glu903_Glu904insAlaGlu)
 gnomAD v4
1g.209618460C>ACA344584966LAMB3c.2901G>T (p.Glu967Asp)
c.108G>T (p.Glu36Asp)
c.2709G>T (p.Glu903Asp)
1g.209618460C>GCA344584967LAMB3c.2901G>C (p.Glu967Asp)
c.108G>C (p.Glu36Asp)
c.2709G>C (p.Glu903Asp)
1g.209618460C>TCA423029897LAMB3c.2901G>A (p.Glu967=)
c.108G>A (p.Glu36=)
c.2709G>A (p.Glu903=)
 gnomAD v4
1g.209618461T>ACA344584968LAMB3c.2900A>T (p.Glu967Val)
c.107A>T (p.Glu36Val)
c.2708A>T (p.Glu903Val)
1g.209618461T>CCA344584969LAMB3c.2900A>G (p.Glu967Gly)
c.107A>G (p.Glu36Gly)
c.2708A>G (p.Glu903Gly)
 gnomAD v4
1g.209618461T>GCA344584970LAMB3c.2900A>C (p.Glu967Ala)
c.107A>C (p.Glu36Ala)
c.2708A>C (p.Glu903Ala)
1g.209618462C>ACA344584971LAMB3c.2899G>T (p.Glu967Ter)
c.106G>T (p.Glu36Ter)
c.2707G>T (p.Glu903Ter)
1g.209618462C=CA2484296263LAMB3c.2899G= (p.Glu967=)
c.106G= (p.Glu36=)
c.2707G= (p.Glu903=)
1g.209618462C>GCA344584972LAMB3c.2899G>C (p.Glu967Gln)
c.106G>C (p.Glu36Gln)
c.2707G>C (p.Glu903Gln)
1g.209618462C>TCA344584973LAMB3c.2899G>A (p.Glu967Lys)
c.106G>A (p.Glu36Lys)
c.2707G>A (p.Glu903Lys)
 dbSNP
1g.209618463A=CA2484296264LAMB3c.2898T= (p.Ala966=)
c.105T= (p.Ala35=)
c.2706T= (p.Ala902=)
1g.209618463A>CCA423029902LAMB3c.2898T>G (p.Ala966=)
c.105T>G (p.Ala35=)
c.2706T>G (p.Ala902=)
1g.209618463A>GCA423029903LAMB3c.2898T>C (p.Ala966=)
c.105T>C (p.Ala35=)
c.2706T>C (p.Ala902=)
 dbSNP gnomAD v2 gnomAD v4
1g.209618463A>TCA423029904LAMB3c.2898T>A (p.Ala966=)
c.105T>A (p.Ala35=)
c.2706T>A (p.Ala902=)
1g.209618464G>ACA1375068LAMB3c.2897C>T (p.Ala966Val)
c.104C>T (p.Ala35Val)
c.2705C>T (p.Ala902Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618464G>CCA344584974LAMB3c.2897C>G (p.Ala966Gly)
c.104C>G (p.Ala35Gly)
c.2705C>G (p.Ala902Gly)
1g.209618464G=CA1143492935LAMB3c.2897C= (p.Ala966=)
c.104C= (p.Ala35=)
c.2705C= (p.Ala902=)
1g.209618464G>TCA344584975LAMB3c.2897C>A (p.Ala966Asp)
c.104C>A (p.Ala35Asp)
c.2705C>A (p.Ala902Asp)
1g.209618465C>ACA344584976LAMB3c.2896G>T (p.Ala966Ser)
c.103G>T (p.Ala35Ser)
c.2704G>T (p.Ala902Ser)
1g.209618465C>GCA344584977LAMB3c.2896G>C (p.Ala966Pro)
c.103G>C (p.Ala35Pro)
c.2704G>C (p.Ala902Pro)
1g.209618465C>TCA344584978LAMB3c.2896G>A (p.Ala966Thr)
c.103G>A (p.Ala35Thr)
c.2704G>A (p.Ala902Thr)
1g.209618466C>ACA344584979LAMB3c.2895G>T (p.Glu965Asp)
c.102G>T (p.Glu34Asp)
c.2703G>T (p.Glu901Asp)
1g.209618466C>GCA344584980LAMB3c.2895G>C (p.Glu965Asp)
c.102G>C (p.Glu34Asp)
c.2703G>C (p.Glu901Asp)
1g.209618466C>TCA423029908LAMB3c.2895G>A (p.Glu965=)
c.102G>A (p.Glu34=)
c.2703G>A (p.Glu901=)
1g.209618467T>ACA344584981LAMB3c.2894A>T (p.Glu965Val)
c.101A>T (p.Glu34Val)
c.2702A>T (p.Glu901Val)
1g.209618467T>CCA344584982LAMB3c.2894A>G (p.Glu965Gly)
c.101A>G (p.Glu34Gly)
c.2702A>G (p.Glu901Gly)
1g.209618467T>GCA344584983LAMB3c.2894A>C (p.Glu965Ala)
c.101A>C (p.Glu34Ala)
c.2702A>C (p.Glu901Ala)
1g.209618468C>ACA344584984LAMB3c.2893G>T (p.Glu965Ter)
c.100G>T (p.Glu34Ter)
c.2701G>T (p.Glu901Ter)
1g.209618468C>GCA344584985LAMB3c.2893G>C (p.Glu965Gln)
c.100G>C (p.Glu34Gln)
c.2701G>C (p.Glu901Gln)
1g.209618468C>TCA344584986LAMB3c.2893G>A (p.Glu965Lys)
c.100G>A (p.Glu34Lys)
c.2701G>A (p.Glu901Lys)
1g.209618469A>CCA423029913LAMB3c.2892T>G (p.Ala964=)
c.99T>G (p.Ala33=)
c.2700T>G (p.Ala900=)
1g.209618469A>GCA423029914LAMB3c.2892T>C (p.Ala964=)
c.99T>C (p.Ala33=)
c.2700T>C (p.Ala900=)
 gnomAD v4
1g.209618469A>TCA423029917LAMB3c.2892T>A (p.Ala964=)
c.99T>A (p.Ala33=)
c.2700T>A (p.Ala900=)
1g.209618470G>ACA344584987LAMB3c.2891C>T (p.Ala964Val)
c.98C>T (p.Ala33Val)
c.2699C>T (p.Ala900Val)
1g.209618470G>CCA344584988LAMB3c.2891C>G (p.Ala964Gly)
c.98C>G (p.Ala33Gly)
c.2699C>G (p.Ala900Gly)
1g.209618470G>TCA344584989LAMB3c.2891C>A (p.Ala964Asp)
c.98C>A (p.Ala33Asp)
c.2699C>A (p.Ala900Asp)
1g.209618470_209618497delCA913072623LAMB3c.2864_2891del (p.Asp955ValfsTer?)
c.71_98del (p.Asp24ValfsTer?)
c.2672_2699del (p.Asp891ValfsTer?)
1g.209618470_209618497delinsGCCTGCAACCGGCGGGCACGCGCAATGTCA2484296265LAMB3c.2864_2891delinsACATTGCGCGTGCCCGCCGGTTGCAGGC (p.Asp955=)
c.71_98delinsACATTGCGCGTGCCCGCCGGTTGCAGGC (p.Asp24=)
c.2672_2699delinsACATTGCGCGTGCCCGCCGGTTGCAGGC (p.Asp891=)
1g.209618471C>ACA344584990LAMB3c.2890G>T (p.Ala964Ser)
c.97G>T (p.Ala33Ser)
c.2698G>T (p.Ala900Ser)
 gnomAD v4
1g.209618471C>GCA344584991LAMB3c.2890G>C (p.Ala964Pro)
c.97G>C (p.Ala33Pro)
c.2698G>C (p.Ala900Pro)
1g.209618471C>TCA344584992LAMB3c.2890G>A (p.Ala964Thr)
c.97G>A (p.Ala33Thr)
c.2698G>A (p.Ala900Thr)
1g.209618471_209618502delinsCCTGCAACCGGCGGGCACGCGCAATGTCCTGCCA1148245821LAMB3c.2859_2890delinsGCAGGACATTGCGCGTGCCCGCCGGTTGCAGG (p.Lys953=)
c.66_97delinsGCAGGACATTGCGCGTGCCCGCCGGTTGCAGG (p.Lys22=)
c.2667_2698delinsGCAGGACATTGCGCGTGCCCGCCGGTTGCAGG (p.Lys889=)
1g.209618476_209618502delCA1375069LAMB3c.2864_2890del (p.Asp955_Gln963del)
c.71_97del (p.Asp24_Gln32del)
c.2672_2698del (p.Asp891_Gln899del)
 ClinVar dbSNP ExAC gnomAD v2
1g.209618472C>ACA344584993LAMB3c.2889G>T (p.Gln963His)
c.96G>T (p.Gln32His)
c.2697G>T (p.Gln899His)
1g.209618472C>GCA344584994LAMB3c.2889G>C (p.Gln963His)
c.96G>C (p.Gln32His)
c.2697G>C (p.Gln899His)
1g.209618472C>TCA423029922LAMB3c.2889G>A (p.Gln963=)
c.96G>A (p.Gln32=)
c.2697G>A (p.Gln899=)

Number of alleles fetched