Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209618468_209618473dupCA2573999136LAMB3c.2897_2902dup (p.Glu967_Glu968insAlaGlu)
c.104_109dup (p.Glu36_Glu37insAlaGlu)
c.2705_2710dup (p.Glu903_Glu904insAlaGlu)
 gnomAD v4
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=)
1g.209618473T>ACA344584995LAMB3c.2888A>T (p.Gln963Leu)
c.95A>T (p.Gln32Leu)
c.2696A>T (p.Gln899Leu)
1g.209618473T>CCA344584997LAMB3c.2888A>G (p.Gln963Arg)
c.95A>G (p.Gln32Arg)
c.2696A>G (p.Gln899Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618473T>GCA344584996LAMB3c.2888A>C (p.Gln963Pro)
c.95A>C (p.Gln32Pro)
c.2696A>C (p.Gln899Pro)
1g.209618473T=CA2484296266LAMB3c.2888A= (p.Gln963=)
c.95A= (p.Gln32=)
c.2696A= (p.Gln899=)
1g.209618474G>ACA344584998LAMB3c.2887C>T (p.Gln963Ter)
c.94C>T (p.Gln32Ter)
c.2695C>T (p.Gln899Ter)
1g.209618474G>CCA344584999LAMB3c.2887C>G (p.Gln963Glu)
c.94C>G (p.Gln32Glu)
c.2695C>G (p.Gln899Glu)
 gnomAD v4
1g.209618474G>TCA344585000LAMB3c.2887C>A (p.Gln963Lys)
c.94C>A (p.Gln32Lys)
c.2695C>A (p.Gln899Lys)
1g.209618475C>ACA344585001LAMB3c.2886G>T (p.Leu962Phe)
c.93G>T (p.Leu31Phe)
c.2694G>T (p.Leu898Phe)
1g.209618475C>GCA344585002LAMB3c.2886G>C (p.Leu962Phe)
c.93G>C (p.Leu31Phe)
c.2694G>C (p.Leu898Phe)
 gnomAD v4
1g.209618475C>TCA423029932LAMB3c.2886G>A (p.Leu962=)
c.93G>A (p.Leu31=)
c.2694G>A (p.Leu898=)
1g.209618476A>CCA344585003LAMB3c.2885T>G (p.Leu962Trp)
c.92T>G (p.Leu31Trp)
c.2693T>G (p.Leu898Trp)
1g.209618476A>GCA344585004LAMB3c.2885T>C (p.Leu962Ser)
c.92T>C (p.Leu31Ser)
c.2693T>C (p.Leu898Ser)
 COSMIC
1g.209618476A>TCA344585005LAMB3c.2885T>A (p.Leu962Ter)
c.92T>A (p.Leu31Ter)
c.2693T>A (p.Leu898Ter)
1g.209618477A>CCA344585006LAMB3c.2884T>G (p.Leu962Val)
c.91T>G (p.Leu31Val)
c.2692T>G (p.Leu898Val)
 gnomAD v4
1g.209618477A>GCA423029937LAMB3c.2884T>C (p.Leu962=)
c.91T>C (p.Leu31=)
c.2692T>C (p.Leu898=)
1g.209618477A>TCA344585007LAMB3c.2884T>A (p.Leu962Met)
c.91T>A (p.Leu31Met)
c.2692T>A (p.Leu898Met)
1g.209618478C>ACA423029941LAMB3c.2883G>T (p.Arg961=)
c.90G>T (p.Arg30=)
c.2691G>T (p.Arg897=)
1g.209618478C=CA2484296267LAMB3c.2883G= (p.Arg961=)
c.90G= (p.Arg30=)
c.2691G= (p.Arg897=)
1g.209618478C>GCA423029940LAMB3c.2883G>C (p.Arg961=)
c.90G>C (p.Arg30=)
c.2691G>C (p.Arg897=)
1g.209618478C>TCA423029939LAMB3c.2883G>A (p.Arg961=)
c.90G>A (p.Arg30=)
c.2691G>A (p.Arg897=)
 dbSNP gnomAD v3 gnomAD v4
1g.209618479C>ACA344585008LAMB3c.2882G>T (p.Arg961Leu)
c.89G>T (p.Arg30Leu)
c.2690G>T (p.Arg897Leu)
1g.209618479C=CA1144706481LAMB3c.2882G= (p.Arg961=)
c.89G= (p.Arg30=)
c.2690G= (p.Arg897=)
1g.209618479C>GCA344585009LAMB3c.2882G>C (p.Arg961Pro)
c.89G>C (p.Arg30Pro)
c.2690G>C (p.Arg897Pro)
1g.209618479C>TCA1375070LAMB3c.2882G>A (p.Arg961Gln)
c.89G>A (p.Arg30Gln)
c.2690G>A (p.Arg897Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209618480G>ACA1375071LAMB3c.2881C>T (p.Arg961Trp)
c.88C>T (p.Arg30Trp)
c.2689C>T (p.Arg897Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618480G>CCA344585010LAMB3c.2881C>G (p.Arg961Gly)
c.88C>G (p.Arg30Gly)
c.2689C>G (p.Arg897Gly)
 dbSNP
1g.209618480G=CA1141086049LAMB3c.2881C= (p.Arg961=)
c.88C= (p.Arg30=)
c.2689C= (p.Arg897=)
1g.209618480G>TCA423029942LAMB3c.2881C>A (p.Arg961=)
c.88C>A (p.Arg30=)
c.2689C>A (p.Arg897=)
1g.209618481G>ACA423029947LAMB3c.2880C>T (p.Arg960=)
c.87C>T (p.Arg29=)
c.2688C>T (p.Arg896=)
1g.209618481G>CCA423029944LAMB3c.2880C>G (p.Arg960=)
c.87C>G (p.Arg29=)
c.2688C>G (p.Arg896=)
1g.209618481G>TCA423029946LAMB3c.2880C>A (p.Arg960=)
c.87C>A (p.Arg29=)
c.2688C>A (p.Arg896=)
1g.209618482C>ACA344585011LAMB3c.2879G>T (p.Arg960Leu)
c.86G>T (p.Arg29Leu)
c.2687G>T (p.Arg896Leu)
1g.209618482C=CA1141833429LAMB3c.2879G= (p.Arg960=)
c.86G= (p.Arg29=)
c.2687G= (p.Arg896=)

Number of alleles fetched