Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209617437G>ACA423029371LAMB3c.3201C>T (p.Ala1067=)
c.408C>T (p.Ala136=)
c.3009C>T (p.Ala1003=)
 ClinVar dbSNP gnomAD v4
1g.209617437G>CCA423029373LAMB3c.3201C>G (p.Ala1067=)
c.408C>G (p.Ala136=)
c.3009C>G (p.Ala1003=)
1g.209617437G>TCA423029372LAMB3c.3201C>A (p.Ala1067=)
c.408C>A (p.Ala136=)
c.3009C>A (p.Ala1003=)
1g.209617438G>ACA344583693LAMB3c.3200C>T (p.Ala1067Val)
c.407C>T (p.Ala136Val)
c.3008C>T (p.Ala1003Val)
1g.209617438G>CCA344583695LAMB3c.3200C>G (p.Ala1067Gly)
c.407C>G (p.Ala136Gly)
c.3008C>G (p.Ala1003Gly)
1g.209617438G>TCA344583704LAMB3c.3200C>A (p.Ala1067Asp)
c.407C>A (p.Ala136Asp)
c.3008C>A (p.Ala1003Asp)
 gnomAD v4
1g.209617439C>ACA344583707LAMB3c.3199G>T (p.Ala1067Ser)
c.406G>T (p.Ala136Ser)
c.3007G>T (p.Ala1003Ser)
1g.209617439C>GCA344583716LAMB3c.3199G>C (p.Ala1067Pro)
c.406G>C (p.Ala136Pro)
c.3007G>C (p.Ala1003Pro)
1g.209617439C>TCA344583719LAMB3c.3199G>A (p.Ala1067Thr)
c.406G>A (p.Ala136Thr)
c.3007G>A (p.Ala1003Thr)
1g.209617440A=CA2484295860LAMB3c.3198T= (p.Gly1066=)
c.405T= (p.Gly135=)
c.3006T= (p.Gly1002=)
1g.209617440A>CCA423029377LAMB3c.3198T>G (p.Gly1066=)
c.405T>G (p.Gly135=)
c.3006T>G (p.Gly1002=)
 dbSNP
1g.209617440A>GCA423029378LAMB3c.3198T>C (p.Gly1066=)
c.405T>C (p.Gly135=)
c.3006T>C (p.Gly1002=)
 gnomAD v4
1g.209617440A>TCA423029379LAMB3c.3198T>A (p.Gly1066=)
c.405T>A (p.Gly135=)
c.3006T>A (p.Gly1002=)
1g.209617441C>ACA344583732LAMB3c.3197G>T (p.Gly1066Val)
c.404G>T (p.Gly135Val)
c.3005G>T (p.Gly1002Val)
 gnomAD v4
1g.209617441C=CA2484295861LAMB3c.3197G= (p.Gly1066=)
c.404G= (p.Gly135=)
c.3005G= (p.Gly1002=)
1g.209617441C>GCA344583723LAMB3c.3197G>C (p.Gly1066Ala)
c.404G>C (p.Gly135Ala)
c.3005G>C (p.Gly1002Ala)
 gnomAD v4
1g.209617441C>TCA344583726LAMB3c.3197G>A (p.Gly1066Asp)
c.404G>A (p.Gly135Asp)
c.3005G>A (p.Gly1002Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.209617442C>ACA344583735LAMB3c.3196G>T (p.Gly1066Cys)
c.403G>T (p.Gly135Cys)
c.3004G>T (p.Gly1002Cys)
1g.209617442C>GCA344583737LAMB3c.3196G>C (p.Gly1066Arg)
c.403G>C (p.Gly135Arg)
c.3004G>C (p.Gly1002Arg)
1g.209617442C>TCA344583739LAMB3c.3196G>A (p.Gly1066Ser)
c.403G>A (p.Gly135Ser)
c.3004G>A (p.Gly1002Ser)
1g.209617443T>ACA344583743LAMB3c.3195A>T (p.Glu1065Asp)
c.402A>T (p.Glu134Asp)
c.3003A>T (p.Glu1001Asp)
1g.209617443T>CCA423029387LAMB3c.3195A>G (p.Glu1065=)
c.402A>G (p.Glu134=)
c.3003A>G (p.Glu1001=)
1g.209617443T>GCA344583751LAMB3c.3195A>C (p.Glu1065Asp)
c.402A>C (p.Glu134Asp)
c.3003A>C (p.Glu1001Asp)
1g.209617444T>ACA344583761LAMB3c.3194A>T (p.Glu1065Val)
c.401A>T (p.Glu134Val)
c.3002A>T (p.Glu1001Val)
1g.209617444T>CCA344583755LAMB3c.3194A>G (p.Glu1065Gly)
c.401A>G (p.Glu134Gly)
c.3002A>G (p.Glu1001Gly)
 gnomAD v4
1g.209617444T>GCA344583758LAMB3c.3194A>C (p.Glu1065Ala)
c.401A>C (p.Glu134Ala)
c.3002A>C (p.Glu1001Ala)
1g.209617445C>ACA344583764LAMB3c.3193G>T (p.Glu1065Ter)
c.400G>T (p.Glu134Ter)
c.3001G>T (p.Glu1001Ter)
 gnomAD v3 gnomAD v4 COSMIC
1g.209617445C=CA2484295862LAMB3c.3193G= (p.Glu1065=)
c.400G= (p.Glu134=)
c.3001G= (p.Glu1001=)
1g.209617445C>GCA344583767LAMB3c.3193G>C (p.Glu1065Gln)
c.400G>C (p.Glu134Gln)
c.3001G>C (p.Glu1001Gln)
1g.209617445C>TCA1374956LAMB3c.3193G>A (p.Glu1065Lys)
c.400G>A (p.Glu134Lys)
c.3001G>A (p.Glu1001Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617446C>ACA423029392LAMB3c.3192G>T (p.Ala1064=)
c.399G>T (p.Ala133=)
c.3000G>T (p.Ala1000=)
1g.209617446C=CA1141454234LAMB3c.3192G= (p.Ala1064=)
c.399G= (p.Ala133=)
c.3000G= (p.Ala1000=)
1g.209617446C>GCA423029393LAMB3c.3192G>C (p.Ala1064=)
c.399G>C (p.Ala133=)
c.3000G>C (p.Ala1000=)
1g.209617446C>TCA1374957LAMB3c.3192G>A (p.Ala1064=)
c.399G>A (p.Ala133=)
c.3000G>A (p.Ala1000=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617447G>ACA1374958LAMB3c.3191C>T (p.Ala1064Val)
c.398C>T (p.Ala133Val)
c.2999C>T (p.Ala1000Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209617447G>CCA344583782LAMB3c.3191C>G (p.Ala1064Gly)
c.398C>G (p.Ala133Gly)
c.2999C>G (p.Ala1000Gly)
1g.209617447G=CA1143575845LAMB3c.3191C= (p.Ala1064=)
c.398C= (p.Ala133=)
c.2999C= (p.Ala1000=)
1g.209617447G>TCA344583787LAMB3c.3191C>A (p.Ala1064Glu)
c.398C>A (p.Ala133Glu)
c.2999C>A (p.Ala1000Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.209617447_209617448delinsTACA2586967983LAMB3c.3190_3191delinsTA (p.Ala1064Ter)
c.397_398delinsTA (p.Ala133Ter)
c.2998_2999delinsTA (p.Ala1000Ter)
 ClinVar
1g.209617448C>ACA344583788LAMB3c.3190G>T (p.Ala1064Ser)
c.397G>T (p.Ala133Ser)
c.2998G>T (p.Ala1000Ser)
 gnomAD v4
1g.209617448C>GCA344583789LAMB3c.3190G>C (p.Ala1064Pro)
c.397G>C (p.Ala133Pro)
c.2998G>C (p.Ala1000Pro)
1g.209617448C>TCA344583790LAMB3c.3190G>A (p.Ala1064Thr)
c.397G>A (p.Ala133Thr)
c.2998G>A (p.Ala1000Thr)
1g.209617449A>CCA423029396LAMB3c.3189T>G (p.Leu1063=)
c.396T>G (p.Leu132=)
c.2997T>G (p.Leu999=)
1g.209617449A>GCA423029398LAMB3c.3189T>C (p.Leu1063=)
c.396T>C (p.Leu132=)
c.2997T>C (p.Leu999=)
 ClinVar dbSNP
1g.209617449A>TCA423029399LAMB3c.3189T>A (p.Leu1063=)
c.396T>A (p.Leu132=)
c.2997T>A (p.Leu999=)
1g.209617450A>CCA344583793LAMB3c.3188T>G (p.Leu1063Arg)
c.395T>G (p.Leu132Arg)
c.2996T>G (p.Leu999Arg)
1g.209617450A>GCA344583795LAMB3c.3188T>C (p.Leu1063Pro)
c.395T>C (p.Leu132Pro)
c.2996T>C (p.Leu999Pro)
1g.209617450A>TCA344583796LAMB3c.3188T>A (p.Leu1063His)
c.395T>A (p.Leu132His)
c.2996T>A (p.Leu999His)
1g.209617451G>ACA344583804LAMB3c.3187C>T (p.Leu1063Phe)
c.394C>T (p.Leu132Phe)
c.2995C>T (p.Leu999Phe)
 dbSNP gnomAD v2
1g.209617451G>CCA344583813LAMB3c.3187C>G (p.Leu1063Val)
c.394C>G (p.Leu132Val)
c.2995C>G (p.Leu999Val)
1g.209617451G=CA2484295863LAMB3c.3187C= (p.Leu1063=)
c.394C= (p.Leu132=)
c.2995C= (p.Leu999=)
1g.209617451G>TCA344583811LAMB3c.3187C>A (p.Leu1063Ile)
c.394C>A (p.Leu132Ile)
c.2995C>A (p.Leu999Ile)
1g.209617452C>ACA344583816LAMB3c.3186G>T (p.Gln1062His)
c.393G>T (p.Gln131His)
c.2994G>T (p.Gln998His)
1g.209617452C>GCA344583819LAMB3c.3186G>C (p.Gln1062His)
c.393G>C (p.Gln131His)
c.2994G>C (p.Gln998His)
1g.209617452C>TCA423029404LAMB3c.3186G>A (p.Gln1062=)
c.393G>A (p.Gln131=)
c.2994G>A (p.Gln998=)
1g.209617453T>ACA344583823LAMB3c.3185A>T (p.Gln1062Leu)
c.392A>T (p.Gln131Leu)
c.2993A>T (p.Gln998Leu)
1g.209617453T>CCA344583828LAMB3c.3185A>G (p.Gln1062Arg)
c.392A>G (p.Gln131Arg)
c.2993A>G (p.Gln998Arg)
1g.209617453T>GCA344583829LAMB3c.3185A>C (p.Gln1062Pro)
c.392A>C (p.Gln131Pro)
c.2993A>C (p.Gln998Pro)
 gnomAD v4
1g.209617454G>ACA344583831LAMB3c.3184C>T (p.Gln1062Ter)
c.391C>T (p.Gln131Ter)
c.2992C>T (p.Gln998Ter)
1g.209617454G>CCA344583832LAMB3c.3184C>G (p.Gln1062Glu)
c.391C>G (p.Gln131Glu)
c.2992C>G (p.Gln998Glu)
 gnomAD v4
1g.209617454G=CA2484295864LAMB3c.3184C= (p.Gln1062=)
c.391C= (p.Gln131=)
c.2992C= (p.Gln998=)
1g.209617454G>TCA344583834LAMB3c.3184C>A (p.Gln1062Lys)
c.391C>A (p.Gln131Lys)
c.2992C>A (p.Gln998Lys)
 dbSNP gnomAD v2
1g.209617455C>ACA344583838LAMB3c.3183G>T (p.Gln1061His)
c.390G>T (p.Gln130His)
c.2991G>T (p.Gln997His)
1g.209617455C>GCA344583846LAMB3c.3183G>C (p.Gln1061His)
c.390G>C (p.Gln130His)
c.2991G>C (p.Gln997His)
1g.209617455C>TCA423029411LAMB3c.3183G>A (p.Gln1061=)
c.390G>A (p.Gln130=)
c.2991G>A (p.Gln997=)
1g.209617456T>ACA344583850LAMB3c.3182A>T (p.Gln1061Leu)
c.389A>T (p.Gln130Leu)
c.2990A>T (p.Gln997Leu)
1g.209617456T>CCA344583853LAMB3c.3182A>G (p.Gln1061Arg)
c.389A>G (p.Gln130Arg)
c.2990A>G (p.Gln997Arg)
 gnomAD v4
1g.209617456T>GCA344583857LAMB3c.3182A>C (p.Gln1061Pro)
c.389A>C (p.Gln130Pro)
c.2990A>C (p.Gln997Pro)
1g.209617457G>ACA344583864LAMB3c.3181C>T (p.Gln1061Ter)
c.388C>T (p.Gln130Ter)
c.2989C>T (p.Gln997Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.209617457G>CCA344583861LAMB3c.3181C>G (p.Gln1061Glu)
c.388C>G (p.Gln130Glu)
c.2989C>G (p.Gln997Glu)
1g.209617457G=CA2484295865LAMB3c.3181C= (p.Gln1061=)
c.388C= (p.Gln130=)
c.2989C= (p.Gln997=)
1g.209617457G>TCA344583862LAMB3c.3181C>A (p.Gln1061Lys)
c.388C>A (p.Gln130Lys)
c.2989C>A (p.Gln997Lys)
1g.209617458G>ACA423029418LAMB3c.3180C>T (p.Ala1060=)
c.387C>T (p.Ala129=)
c.2988C>T (p.Ala996=)
 gnomAD v4
1g.209617458G>CCA423029420LAMB3c.3180C>G (p.Ala1060=)
c.387C>G (p.Ala129=)
c.2988C>G (p.Ala996=)
1g.209617458G>TCA423029419LAMB3c.3180C>A (p.Ala1060=)
c.387C>A (p.Ala129=)
c.2988C>A (p.Ala996=)
 ClinVar
1g.209617459G>ACA344583866LAMB3c.3179C>T (p.Ala1060Val)
c.386C>T (p.Ala129Val)
c.2987C>T (p.Ala996Val)
1g.209617459G>CCA344583867LAMB3c.3179C>G (p.Ala1060Gly)
c.386C>G (p.Ala129Gly)
c.2987C>G (p.Ala996Gly)
 gnomAD v4
1g.209617459G>TCA344583870LAMB3c.3179C>A (p.Ala1060Asp)
c.386C>A (p.Ala129Asp)
c.2987C>A (p.Ala996Asp)
1g.209617460C>ACA344583872LAMB3c.3178G>T (p.Ala1060Ser)
c.385G>T (p.Ala129Ser)
c.2986G>T (p.Ala996Ser)
1g.209617460C>GCA344583874LAMB3c.3178G>C (p.Ala1060Pro)
c.385G>C (p.Ala129Pro)
c.2986G>C (p.Ala996Pro)
1g.209617460C>TCA344583876LAMB3c.3178G>A (p.Ala1060Thr)
c.385G>A (p.Ala129Thr)
c.2986G>A (p.Ala996Thr)
 gnomAD v4
1g.209617461C>ACA344583877LAMB3c.3177G>T (p.Gln1059His)
c.384G>T (p.Gln128His)
c.2985G>T (p.Gln995His)
 COSMIC
1g.209617461C=CA2484295866LAMB3c.3177G= (p.Gln1059=)
c.384G= (p.Gln128=)
c.2985G= (p.Gln995=)
1g.209617461C>GCA344583878LAMB3c.3177G>C (p.Gln1059His)
c.384G>C (p.Gln128His)
c.2985G>C (p.Gln995His)
 dbSNP
1g.209617461C>TCA423029431LAMB3c.3177G>A (p.Gln1059=)
c.384G>A (p.Gln128=)
c.2985G>A (p.Gln995=)
 ClinVar
1g.209617462T>ACA344583879LAMB3c.3176A>T (p.Gln1059Leu)
c.383A>T (p.Gln128Leu)
c.2984A>T (p.Gln995Leu)
1g.209617462T>CCA344583880LAMB3c.3176A>G (p.Gln1059Arg)
c.383A>G (p.Gln128Arg)
c.2984A>G (p.Gln995Arg)
1g.209617462T>GCA344583881LAMB3c.3176A>C (p.Gln1059Pro)
c.383A>C (p.Gln128Pro)
c.2984A>C (p.Gln995Pro)
1g.209617463G>ACA344583890LAMB3c.3175C>T (p.Gln1059Ter)
c.382C>T (p.Gln128Ter)
c.2983C>T (p.Gln995Ter)
1g.209617463G>CCA344583884LAMB3c.3175C>G (p.Gln1059Glu)
c.382C>G (p.Gln128Glu)
c.2983C>G (p.Gln995Glu)
1g.209617463G=CA2484295867LAMB3c.3175C= (p.Gln1059=)
c.382C= (p.Gln128=)
c.2983C= (p.Gln995=)
1g.209617463G>TCA344583882LAMB3c.3175C>A (p.Gln1059Lys)
c.382C>A (p.Gln128Lys)
c.2983C>A (p.Gln995Lys)
 dbSNP gnomAD v4
1g.209617464G>ACA423029440LAMB3c.3174C>T (p.Val1058=)
c.381C>T (p.Val127=)
c.2982C>T (p.Val994=)
1g.209617464G>CCA423029442LAMB3c.3174C>G (p.Val1058=)
c.381C>G (p.Val127=)
c.2982C>G (p.Val994=)
1g.209617464G>TCA423029441LAMB3c.3174C>A (p.Val1058=)
c.381C>A (p.Val127=)
c.2982C>A (p.Val994=)
1g.209617465A=CA2484295868LAMB3c.3173T= (p.Val1058=)
c.380T= (p.Val127=)
c.2981T= (p.Val994=)
1g.209617465A>CCA344583892LAMB3c.3173T>G (p.Val1058Gly)
c.380T>G (p.Val127Gly)
c.2981T>G (p.Val994Gly)
 dbSNP
1g.209617465A>GCA344583897LAMB3c.3173T>C (p.Val1058Ala)
c.380T>C (p.Val127Ala)
c.2981T>C (p.Val994Ala)
1g.209617465A>TCA344583895LAMB3c.3173T>A (p.Val1058Asp)
c.380T>A (p.Val127Asp)
c.2981T>A (p.Val994Asp)
1g.209617466C>ACA344583898LAMB3c.3172G>T (p.Val1058Phe)
c.379G>T (p.Val127Phe)
c.2980G>T (p.Val994Phe)
1g.209617466C>GCA344583902LAMB3c.3172G>C (p.Val1058Leu)
c.379G>C (p.Val127Leu)
c.2980G>C (p.Val994Leu)
1g.209617466C>TCA344583900LAMB3c.3172G>A (p.Val1058Ile)
c.379G>A (p.Val127Ile)
c.2980G>A (p.Val994Ile)
1g.209617467T>ACA423029447LAMB3c.3171A>T (p.Ala1057=)
c.378A>T (p.Ala126=)
c.2979A>T (p.Ala993=)
1g.209617467T>CCA423029448LAMB3c.3171A>G (p.Ala1057=)
c.378A>G (p.Ala126=)
c.2979A>G (p.Ala993=)
1g.209617467T>GCA423029449LAMB3c.3171A>C (p.Ala1057=)
c.378A>C (p.Ala126=)
c.2979A>C (p.Ala993=)
 ClinVar dbSNP gnomAD v4
1g.209617468G>ACA344583905LAMB3c.3170C>T (p.Ala1057Val)
c.377C>T (p.Ala126Val)
c.2978C>T (p.Ala993Val)
 dbSNP gnomAD v4
1g.209617468G>CCA344583907LAMB3c.3170C>G (p.Ala1057Gly)
c.377C>G (p.Ala126Gly)
c.2978C>G (p.Ala993Gly)
 gnomAD v4
1g.209617468G>TCA344583909LAMB3c.3170C>A (p.Ala1057Glu)
c.377C>A (p.Ala126Glu)
c.2978C>A (p.Ala993Glu)
 gnomAD v4
1g.209617469C>ACA344583913LAMB3c.3169G>T (p.Ala1057Ser)
c.376G>T (p.Ala126Ser)
c.2977G>T (p.Ala993Ser)
1g.209617469C>GCA344583915LAMB3c.3169G>C (p.Ala1057Pro)
c.376G>C (p.Ala126Pro)
c.2977G>C (p.Ala993Pro)
1g.209617469C>TCA344583916LAMB3c.3169G>A (p.Ala1057Thr)
c.376G>A (p.Ala126Thr)
c.2977G>A (p.Ala993Thr)
1g.209617470C>ACA344583920LAMB3c.3168G>T (p.Glu1056Asp)
c.375G>T (p.Glu125Asp)
c.2976G>T (p.Glu992Asp)
1g.209617470C=CA2484295869LAMB3c.3168G= (p.Glu1056=)
c.375G= (p.Glu125=)
c.2976G= (p.Glu992=)
1g.209617470C>GCA344583922LAMB3c.3168G>C (p.Glu1056Asp)
c.375G>C (p.Glu125Asp)
c.2976G>C (p.Glu992Asp)
1g.209617470C>TCA1374959LAMB3c.3168G>A (p.Glu1056=)
c.375G>A (p.Glu125=)
c.2976G>A (p.Glu992=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617471T>ACA344583926LAMB3c.3167A>T (p.Glu1056Val)
c.374A>T (p.Glu125Val)
c.2975A>T (p.Glu992Val)
1g.209617471T>CCA344583928LAMB3c.3167A>G (p.Glu1056Gly)
c.374A>G (p.Glu125Gly)
c.2975A>G (p.Glu992Gly)
1g.209617471T>GCA344583929LAMB3c.3167A>C (p.Glu1056Ala)
c.374A>C (p.Glu125Ala)
c.2975A>C (p.Glu992Ala)
1g.209617472C>ACA344583932LAMB3c.3166G>T (p.Glu1056Ter)
c.373G>T (p.Glu125Ter)
c.2974G>T (p.Glu992Ter)
1g.209617472C>GCA344583936LAMB3c.3166G>C (p.Glu1056Gln)
c.373G>C (p.Glu125Gln)
c.2974G>C (p.Glu992Gln)
1g.209617472C>TCA344583933LAMB3c.3166G>A (p.Glu1056Lys)
c.373G>A (p.Glu125Lys)
c.2974G>A (p.Glu992Lys)
 COSMIC
1g.209617473T>ACA423029463LAMB3c.3165A>T (p.Ala1055=)
c.372A>T (p.Ala124=)
c.2973A>T (p.Ala991=)
1g.209617473T>CCA423029465LAMB3c.3165A>G (p.Ala1055=)
c.372A>G (p.Ala124=)
c.2973A>G (p.Ala991=)
1g.209617473T>GCA423029466LAMB3c.3165A>C (p.Ala1055=)
c.372A>C (p.Ala124=)
c.2973A>C (p.Ala991=)
1g.209617474G>ACA1374960LAMB3c.3164C>T (p.Ala1055Val)
c.371C>T (p.Ala124Val)
c.2972C>T (p.Ala991Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617474G>CCA344583938LAMB3c.3164C>G (p.Ala1055Gly)
c.371C>G (p.Ala124Gly)
c.2972C>G (p.Ala991Gly)
1g.209617474G=CA2484295870LAMB3c.3164C= (p.Ala1055=)
c.371C= (p.Ala124=)
c.2972C= (p.Ala991=)
1g.209617474G>TCA1374961LAMB3c.3164C>A (p.Ala1055Glu)
c.371C>A (p.Ala124Glu)
c.2972C>A (p.Ala991Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617475C>ACA344583942LAMB3c.3163G>T (p.Ala1055Ser)
c.370G>T (p.Ala124Ser)
c.2971G>T (p.Ala991Ser)
 gnomAD v4
1g.209617475C=CA2484295871LAMB3c.3163G= (p.Ala1055=)
c.370G= (p.Ala124=)
c.2971G= (p.Ala991=)
1g.209617475C>GCA344583945LAMB3c.3163G>C (p.Ala1055Pro)
c.370G>C (p.Ala124Pro)
c.2971G>C (p.Ala991Pro)
1g.209617475C>TCA1374962LAMB3c.3163G>A (p.Ala1055Thr)
c.370G>A (p.Ala124Thr)
c.2971G>A (p.Ala991Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617479dupCA2650320259LAMB3c.3163dup (p.Ala1055GlyfsTer25)
c.370dup (p.Ala124GlyfsTer25)
c.2971dup (p.Ala991GlyfsTer25)
 gnomAD v4
1g.209617479delCA2573997751LAMB3c.3163del (p.Ala1055GlnfsTer18)
c.370del (p.Ala124GlnfsTer18)
c.2971del (p.Ala991GlnfsTer18)
 ClinVar gnomAD v4
1g.209617476C>ACA423029470LAMB3c.3162G>T (p.Gly1054=)
c.369G>T (p.Gly123=)
c.2970G>T (p.Gly990=)
1g.209617476C>GCA423029471LAMB3c.3162G>C (p.Gly1054=)
c.369G>C (p.Gly123=)
c.2970G>C (p.Gly990=)
1g.209617476C>TCA423029472LAMB3c.3162G>A (p.Gly1054=)
c.369G>A (p.Gly123=)
c.2970G>A (p.Gly990=)
 ClinVar dbSNP gnomAD v4
1g.209617477C>ACA344583950LAMB3c.3161G>T (p.Gly1054Val)
c.368G>T (p.Gly123Val)
c.2969G>T (p.Gly990Val)
1g.209617477C>GCA344583951LAMB3c.3161G>C (p.Gly1054Ala)
c.368G>C (p.Gly123Ala)
c.2969G>C (p.Gly990Ala)
1g.209617477C>TCA344583952LAMB3c.3161G>A (p.Gly1054Glu)
c.368G>A (p.Gly123Glu)
c.2969G>A (p.Gly990Glu)
1g.209617478C>ACA344583957LAMB3c.3160G>T (p.Gly1054Trp)
c.367G>T (p.Gly123Trp)
c.2968G>T (p.Gly990Trp)
1g.209617478C=CA2484295873LAMB3c.3160G= (p.Gly1054=)
c.367G= (p.Gly123=)
c.2968G= (p.Gly990=)
1g.209617478C>GCA1374963LAMB3c.3160G>C (p.Gly1054Arg)
c.367G>C (p.Gly123Arg)
c.2968G>C (p.Gly990Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617478C>TCA344583955LAMB3c.3160G>A (p.Gly1054Arg)
c.367G>A (p.Gly123Arg)
c.2968G>A (p.Gly990Arg)
 gnomAD v4 COSMIC
1g.209617478_209617481delinsCCTGCA2484295872LAMB3c.3157_3160delinsCAGG (p.Gln1053=)
c.364_367delinsCAGG (p.Gln122=)
c.2965_2968delinsCAGG (p.Gln989=)
1g.209617479C>ACA344583962LAMB3c.3159G>T (p.Gln1053His)
c.366G>T (p.Gln122His)
c.2967G>T (p.Gln989His)
1g.209617479C=CA2484295874LAMB3c.3159G= (p.Gln1053=)
c.366G= (p.Gln122=)
c.2967G= (p.Gln989=)
1g.209617479C>GCA1374965LAMB3c.3159G>C (p.Gln1053His)
c.366G>C (p.Gln122His)
c.2967G>C (p.Gln989His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617479C>TCA423029479LAMB3c.3159G>A (p.Gln1053=)
c.366G>A (p.Gln122=)
c.2967G>A (p.Gln989=)
1g.209617483_209617485delCA1374964LAMB3c.3157_3159del (p.Gln1053del)
c.364_366del (p.Gln122del)
c.2965_2967del (p.Gln989del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617480T>ACA344583967LAMB3c.3158A>T (p.Gln1053Leu)
c.365A>T (p.Gln122Leu)
c.2966A>T (p.Gln989Leu)
 COSMIC
1g.209617480T>CCA344583969LAMB3c.3158A>G (p.Gln1053Arg)
c.365A>G (p.Gln122Arg)
c.2966A>G (p.Gln989Arg)
 dbSNP gnomAD v2
1g.209617480T>GCA344583975LAMB3c.3158A>C (p.Gln1053Pro)
c.365A>C (p.Gln122Pro)
c.2966A>C (p.Gln989Pro)
 gnomAD v4
1g.209617480T=CA2484295875LAMB3c.3158A= (p.Gln1053=)
c.365A= (p.Gln122=)
c.2966A= (p.Gln989=)
1g.209617481G>ACA344583977LAMB3c.3157C>T (p.Gln1053Ter)
c.364C>T (p.Gln122Ter)
c.2965C>T (p.Gln989Ter)
1g.209617481G>CCA344583979LAMB3c.3157C>G (p.Gln1053Glu)
c.364C>G (p.Gln122Glu)
c.2965C>G (p.Gln989Glu)
1g.209617481G>TCA344583981LAMB3c.3157C>A (p.Gln1053Lys)
c.364C>A (p.Gln122Lys)
c.2965C>A (p.Gln989Lys)
1g.209617482C>ACA344583983LAMB3c.3156G>T (p.Gln1052His)
c.363G>T (p.Gln121His)
c.2964G>T (p.Gln988His)
1g.209617482C>GCA344583986LAMB3c.3156G>C (p.Gln1052His)
c.363G>C (p.Gln121His)
c.2964G>C (p.Gln988His)
1g.209617482C>TCA423029485LAMB3c.3156G>A (p.Gln1052=)
c.363G>A (p.Gln121=)
c.2964G>A (p.Gln988=)
1g.209617483T>ACA344583990LAMB3c.3155A>T (p.Gln1052Leu)
c.362A>T (p.Gln121Leu)
c.2963A>T (p.Gln988Leu)
1g.209617483T>CCA344583992LAMB3c.3155A>G (p.Gln1052Arg)
c.362A>G (p.Gln121Arg)
c.2963A>G (p.Gln988Arg)
1g.209617483T>GCA344583989LAMB3c.3155A>C (p.Gln1052Pro)
c.362A>C (p.Gln121Pro)
c.2963A>C (p.Gln988Pro)
1g.209617484G>ACA344583994LAMB3c.3154C>T (p.Gln1052Ter)
c.361C>T (p.Gln121Ter)
c.2962C>T (p.Gln988Ter)
1g.209617484G>CCA344583995LAMB3c.3154C>G (p.Gln1052Glu)
c.361C>G (p.Gln121Glu)
c.2962C>G (p.Gln988Glu)
1g.209617484G=CA2484295876LAMB3c.3154C= (p.Gln1052=)
c.361C= (p.Gln121=)
c.2962C= (p.Gln988=)
1g.209617484G>TCA10608966LAMB3c.3154C>A (p.Gln1052Lys)
c.361C>A (p.Gln121Lys)
c.2962C>A (p.Gln988Lys)
 ClinVar dbSNP
1g.209617485C>ACA423029488LAMB3c.3153G>T (p.Arg1051=)
c.360G>T (p.Arg120=)
c.2961G>T (p.Arg987=)
1g.209617485C>GCA423029489LAMB3c.3153G>C (p.Arg1051=)
c.360G>C (p.Arg120=)
c.2961G>C (p.Arg987=)
1g.209617485C>TCA423029490LAMB3c.3153G>A (p.Arg1051=)
c.360G>A (p.Arg120=)
c.2961G>A (p.Arg987=)
 gnomAD v4
1g.209617486C>ACA344583997LAMB3c.3152G>T (p.Arg1051Leu)
c.359G>T (p.Arg120Leu)
c.2960G>T (p.Arg987Leu)
1g.209617486C=CA2484295877LAMB3c.3152G= (p.Arg1051=)
c.359G= (p.Arg120=)
c.2960G= (p.Arg987=)
1g.209617486C>GCA344583998LAMB3c.3152G>C (p.Arg1051Pro)
c.359G>C (p.Arg120Pro)
c.2960G>C (p.Arg987Pro)
1g.209617486C>TCA1374966LAMB3c.3152G>A (p.Arg1051Gln)
c.359G>A (p.Arg120Gln)
c.2960G>A (p.Arg987Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617487G>ACA1374967LAMB3c.3151C>T (p.Arg1051Trp)
c.358C>T (p.Arg120Trp)
c.2959C>T (p.Arg987Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617487G>CCA344584004LAMB3c.3151C>G (p.Arg1051Gly)
c.358C>G (p.Arg120Gly)
c.2959C>G (p.Arg987Gly)
 gnomAD v4
1g.209617487G=CA1144243235LAMB3c.3151C= (p.Arg1051=)
c.358C= (p.Arg120=)
c.2959C= (p.Arg987=)
1g.209617487G>TCA423029493LAMB3c.3151C>A (p.Arg1051=)
c.358C>A (p.Arg120=)
c.2959C>A (p.Arg987=)
1g.209617488G>ACA423029495LAMB3c.3150C>T (p.Ala1050=)
c.357C>T (p.Ala119=)
c.2958C>T (p.Ala986=)
1g.209617488G>CCA423029496LAMB3c.3150C>G (p.Ala1050=)
c.357C>G (p.Ala119=)
c.2958C>G (p.Ala986=)
1g.209617488G>TCA423029497LAMB3c.3150C>A (p.Ala1050=)
c.357C>A (p.Ala119=)
c.2958C>A (p.Ala986=)
1g.209617489G>ACA344584005LAMB3c.3149C>T (p.Ala1050Val)
c.356C>T (p.Ala119Val)
c.2957C>T (p.Ala986Val)
1g.209617489G>CCA1374968LAMB3c.3149C>G (p.Ala1050Gly)
c.356C>G (p.Ala119Gly)
c.2957C>G (p.Ala986Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617489G=CA2484295878LAMB3c.3149C= (p.Ala1050=)
c.356C= (p.Ala119=)
c.2957C= (p.Ala986=)
1g.209617489G>TCA344584007LAMB3c.3149C>A (p.Ala1050Asp)
c.356C>A (p.Ala119Asp)
c.2957C>A (p.Ala986Asp)
1g.209617490delCA2739275576LAMB3c.3148del (p.Ala1050ProfsTer23)
c.355del (p.Ala119ProfsTer23)
c.2956del (p.Ala986ProfsTer23)
 ClinVar
1g.209617490C>ACA344584010LAMB3c.3148G>T (p.Ala1050Ser)
c.355G>T (p.Ala119Ser)
c.2956G>T (p.Ala986Ser)
1g.209617490C>GCA344584012LAMB3c.3148G>C (p.Ala1050Pro)
c.355G>C (p.Ala119Pro)
c.2956G>C (p.Ala986Pro)
1g.209617490C>TCA344584013LAMB3c.3148G>A (p.Ala1050Thr)
c.355G>A (p.Ala119Thr)
c.2956G>A (p.Ala986Thr)
1g.209617491T>ACA344584015LAMB3c.3147A>T (p.Gln1049His)
c.354A>T (p.Gln118His)
c.2955A>T (p.Gln985His)
1g.209617491T>CCA423029503LAMB3c.3147A>G (p.Gln1049=)
c.354A>G (p.Gln118=)
c.2955A>G (p.Gln985=)
1g.209617491T>GCA344584017LAMB3c.3147A>C (p.Gln1049His)
c.354A>C (p.Gln118His)
c.2955A>C (p.Gln985His)
1g.209617492T>ACA344584020LAMB3c.3146A>T (p.Gln1049Leu)
c.353A>T (p.Gln118Leu)
c.2954A>T (p.Gln985Leu)
1g.209617492T>CCA344584024LAMB3c.3146A>G (p.Gln1049Arg)
c.353A>G (p.Gln118Arg)
c.2954A>G (p.Gln985Arg)
1g.209617492T>GCA344584022LAMB3c.3146A>C (p.Gln1049Pro)
c.353A>C (p.Gln118Pro)
c.2954A>C (p.Gln985Pro)
1g.209617493G>ACA344584025LAMB3c.3145C>T (p.Gln1049Ter)
c.352C>T (p.Gln118Ter)
c.2953C>T (p.Gln985Ter)
1g.209617493G>CCA344584027LAMB3c.3145C>G (p.Gln1049Glu)
c.352C>G (p.Gln118Glu)
c.2953C>G (p.Gln985Glu)
1g.209617493G>TCA344584029LAMB3c.3145C>A (p.Gln1049Lys)
c.352C>A (p.Gln118Lys)
c.2953C>A (p.Gln985Lys)
1g.209617494G>ACA423029513LAMB3c.3144C>T (p.His1048=)
c.351C>T (p.His117=)
c.2952C>T (p.His984=)
1g.209617494G>CCA344584031LAMB3c.3144C>G (p.His1048Gln)
c.351C>G (p.His117Gln)
c.2952C>G (p.His984Gln)
1g.209617494G>TCA344584034LAMB3c.3144C>A (p.His1048Gln)
c.351C>A (p.His117Gln)
c.2952C>A (p.His984Gln)
1g.209617495T>ACA344584039LAMB3c.3143A>T (p.His1048Leu)
c.350A>T (p.His117Leu)
c.2951A>T (p.His984Leu)
1g.209617495T>CCA344584041LAMB3c.3143A>G (p.His1048Arg)
c.350A>G (p.His117Arg)
c.2951A>G (p.His984Arg)
 dbSNP
1g.209617495T>GCA344584043LAMB3c.3143A>C (p.His1048Pro)
c.350A>C (p.His117Pro)
c.2951A>C (p.His984Pro)
1g.209617496G>ACA344584045LAMB3c.3142C>T (p.His1048Tyr)
c.349C>T (p.His117Tyr)
c.2950C>T (p.His984Tyr)
1g.209617496G>CCA344584046LAMB3c.3142C>G (p.His1048Asp)
c.349C>G (p.His117Asp)
c.2950C>G (p.His984Asp)
1g.209617496G>TCA344584049LAMB3c.3142C>A (p.His1048Asn)
c.349C>A (p.His117Asn)
c.2950C>A (p.His984Asn)
1g.209617497G>ACA423029515LAMB3c.3141C>T (p.Arg1047=)
c.348C>T (p.Arg116=)
c.2949C>T (p.Arg983=)
 gnomAD v4
1g.209617497G>CCA423029516LAMB3c.3141C>G (p.Arg1047=)
c.348C>G (p.Arg116=)
c.2949C>G (p.Arg983=)
1g.209617497G>TCA423029519LAMB3c.3141C>A (p.Arg1047=)
c.348C>A (p.Arg116=)
c.2949C>A (p.Arg983=)
1g.209617498C>ACA344584059LAMB3c.3140G>T (p.Arg1047Leu)
c.347G>T (p.Arg116Leu)
c.2948G>T (p.Arg983Leu)
 dbSNP
1g.209617498C=CA2484295879LAMB3c.3140G= (p.Arg1047=)
c.347G= (p.Arg116=)
c.2948G= (p.Arg983=)
1g.209617498C>GCA344584058LAMB3c.3140G>C (p.Arg1047Pro)
c.347G>C (p.Arg116Pro)
c.2948G>C (p.Arg983Pro)
1g.209617498C>TCA344584056LAMB3c.3140G>A (p.Arg1047His)
c.347G>A (p.Arg116His)
c.2948G>A (p.Arg983His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.209617499G>ACA1374969LAMB3c.3139C>T (p.Arg1047Cys)
c.346C>T (p.Arg116Cys)
c.2947C>T (p.Arg983Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209617499G>CCA344584063LAMB3c.3139C>G (p.Arg1047Gly)
c.346C>G (p.Arg116Gly)
c.2947C>G (p.Arg983Gly)
1g.209617499G=CA2484295880LAMB3c.3139C= (p.Arg1047=)
c.346C= (p.Arg116=)
c.2947C= (p.Arg983=)
1g.209617499G>TCA344584065LAMB3c.3139C>A (p.Arg1047Ser)
c.346C>A (p.Arg116Ser)
c.2947C>A (p.Arg983Ser)
1g.209617500G>ACA423029523LAMB3c.3138C>T (p.Leu1046=)
c.345C>T (p.Leu115=)
c.2946C>T (p.Leu982=)
 gnomAD v4 COSMIC
1g.209617500G>CCA423029524LAMB3c.3138C>G (p.Leu1046=)
c.345C>G (p.Leu115=)
c.2946C>G (p.Leu982=)
1g.209617500G>TCA423029525LAMB3c.3138C>A (p.Leu1046=)
c.345C>A (p.Leu115=)
c.2946C>A (p.Leu982=)
1g.209617501A>CCA344584068LAMB3c.3137T>G (p.Leu1046Arg)
c.344T>G (p.Leu115Arg)
c.2945T>G (p.Leu982Arg)
1g.209617501A>GCA344584069LAMB3c.3137T>C (p.Leu1046Pro)
c.344T>C (p.Leu115Pro)
c.2945T>C (p.Leu982Pro)
1g.209617501A>TCA344584071LAMB3c.3137T>A (p.Leu1046His)
c.344T>A (p.Leu115His)
c.2945T>A (p.Leu982His)
 gnomAD v4
1g.209617502G>ACA344584074LAMB3c.3136C>T (p.Leu1046Phe)
c.343C>T (p.Leu115Phe)
c.2944C>T (p.Leu982Phe)
 ClinVar gnomAD v4
1g.209617502G>CCA344584077LAMB3c.3136C>G (p.Leu1046Val)
c.343C>G (p.Leu115Val)
c.2944C>G (p.Leu982Val)
1g.209617502G>TCA344584079LAMB3c.3136C>A (p.Leu1046Ile)
c.343C>A (p.Leu115Ile)
c.2944C>A (p.Leu982Ile)
1g.209617503C>ACA344584082LAMB3c.3135G>T (p.Glu1045Asp)
c.342G>T (p.Glu114Asp)
c.2943G>T (p.Glu981Asp)
1g.209617503C=CA2484295881LAMB3c.3135G= (p.Glu1045=)
c.342G= (p.Glu114=)
c.2943G= (p.Glu981=)
1g.209617503C>GCA344584084LAMB3c.3135G>C (p.Glu1045Asp)
c.342G>C (p.Glu114Asp)
c.2943G>C (p.Glu981Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.209617503C>TCA1374970LAMB3c.3135G>A (p.Glu1045=)
c.342G>A (p.Glu114=)
c.2943G>A (p.Glu981=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617504T>ACA344584090LAMB3c.3134A>T (p.Glu1045Val)
c.341A>T (p.Glu114Val)
c.2942A>T (p.Glu981Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617504T>CCA344584088LAMB3c.3134A>G (p.Glu1045Gly)
c.341A>G (p.Glu114Gly)
c.2942A>G (p.Glu981Gly)
1g.209617504T>GCA344584086LAMB3c.3134A>C (p.Glu1045Ala)
c.341A>C (p.Glu114Ala)
c.2942A>C (p.Glu981Ala)
1g.209617504T=CA2484295882LAMB3c.3134A= (p.Glu1045=)
c.341A= (p.Glu114=)
c.2942A= (p.Glu981=)
1g.209617505C>ACA344584092LAMB3c.3133G>T (p.Glu1045Ter)
c.340G>T (p.Glu114Ter)
c.2941G>T (p.Glu981Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617505C=CA2484295883LAMB3c.3133G= (p.Glu1045=)
c.340G= (p.Glu114=)
c.2941G= (p.Glu981=)
1g.209617505C>GCA344584093LAMB3c.3133G>C (p.Glu1045Gln)
c.340G>C (p.Glu114Gln)
c.2941G>C (p.Glu981Gln)
1g.209617505C>TCA344584094LAMB3c.3133G>A (p.Glu1045Lys)
c.340G>A (p.Glu114Lys)
c.2941G>A (p.Glu981Lys)
 gnomAD v4
1g.209617506C>ACA344584096LAMB3c.3132G>T (p.Glu1044Asp)
c.339G>T (p.Glu113Asp)
c.2940G>T (p.Glu980Asp)
1g.209617506C=CA2484295884LAMB3c.3132G= (p.Glu1044=)
c.339G= (p.Glu113=)
c.2940G= (p.Glu980=)
1g.209617506C>GCA344584097LAMB3c.3132G>C (p.Glu1044Asp)
c.339G>C (p.Glu113Asp)
c.2940G>C (p.Glu980Asp)
 dbSNP
1g.209617506C>TCA423029529LAMB3c.3132G>A (p.Glu1044=)
c.339G>A (p.Glu113=)
c.2940G>A (p.Glu980=)
 ClinVar
1g.209617507T>ACA344584103LAMB3c.3131A>T (p.Glu1044Val)
c.338A>T (p.Glu113Val)
c.2939A>T (p.Glu980Val)
1g.209617507T>CCA344584101LAMB3c.3131A>G (p.Glu1044Gly)
c.338A>G (p.Glu113Gly)
c.2939A>G (p.Glu980Gly)
1g.209617507T>GCA344584099LAMB3c.3131A>C (p.Glu1044Ala)
c.338A>C (p.Glu113Ala)
c.2939A>C (p.Glu980Ala)
1g.209617508C>ACA344584106LAMB3c.3130G>T (p.Glu1044Ter)
c.337G>T (p.Glu113Ter)
c.2938G>T (p.Glu980Ter)
 ClinVar dbSNP
1g.209617508C=CA2484295885LAMB3c.3130G= (p.Glu1044=)
c.337G= (p.Glu113=)
c.2938G= (p.Glu980=)
1g.209617508C>GCA344584109LAMB3c.3130G>C (p.Glu1044Gln)
c.337G>C (p.Glu113Gln)
c.2938G>C (p.Glu980Gln)
1g.209617508C>TCA344584111LAMB3c.3130G>A (p.Glu1044Lys)
c.337G>A (p.Glu113Lys)
c.2938G>A (p.Glu980Lys)
1g.209617509C>ACA344584121LAMB3c.3129G>T (p.Met1043Ile)
c.336G>T (p.Met112Ile)
c.2937G>T (p.Met979Ile)
1g.209617509C=CA2484295886LAMB3c.3129G= (p.Met1043=)
c.336G= (p.Met112=)
c.2937G= (p.Met979=)
1g.209617509C>GCA344584123LAMB3c.3129G>C (p.Met1043Ile)
c.336G>C (p.Met112Ile)
c.2937G>C (p.Met979Ile)
1g.209617509C>TCA1374971LAMB3c.3129G>A (p.Met1043Ile)
c.336G>A (p.Met112Ile)
c.2937G>A (p.Met979Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617510A=CA2484295887LAMB3c.3128T= (p.Met1043=)
c.335T= (p.Met112=)
c.2936T= (p.Met979=)
1g.209617510A>CCA344584127LAMB3c.3128T>G (p.Met1043Arg)
c.335T>G (p.Met112Arg)
c.2936T>G (p.Met979Arg)
1g.209617510A>GCA344584131LAMB3c.3128T>C (p.Met1043Thr)
c.335T>C (p.Met112Thr)
c.2936T>C (p.Met979Thr)
 dbSNP
1g.209617510A>TCA344584130LAMB3c.3128T>A (p.Met1043Lys)
c.335T>A (p.Met112Lys)
c.2936T>A (p.Met979Lys)
1g.209617511T>ACA344584132LAMB3c.3127A>T (p.Met1043Leu)
c.334A>T (p.Met112Leu)
c.2935A>T (p.Met979Leu)
1g.209617511T>CCA36749592LAMB3c.3127A>G (p.Met1043Val)
c.334A>G (p.Met112Val)
c.2935A>G (p.Met979Val)
 dbSNP gnomAD v2 gnomAD v4
1g.209617511T>GCA344584135LAMB3c.3127A>C (p.Met1043Leu)
c.334A>C (p.Met112Leu)
c.2935A>C (p.Met979Leu)
1g.209617511T=CA2484295888LAMB3c.3127A= (p.Met1043=)
c.334A= (p.Met112=)
c.2935A= (p.Met979=)
1g.209617512C>ACA423029536LAMB3c.3126G>T (p.Arg1042=)
c.333G>T (p.Arg111=)
c.2934G>T (p.Arg978=)
1g.209617512C>GCA423029537LAMB3c.3126G>C (p.Arg1042=)
c.333G>C (p.Arg111=)
c.2934G>C (p.Arg978=)
1g.209617512C>TCA423029538LAMB3c.3126G>A (p.Arg1042=)
c.333G>A (p.Arg111=)
c.2934G>A (p.Arg978=)
1g.209617513C>ACA344584136LAMB3c.3125G>T (p.Arg1042Leu)
c.332G>T (p.Arg111Leu)
c.2933G>T (p.Arg978Leu)
1g.209617513C=CA1149137829LAMB3c.3125G= (p.Arg1042=)
c.332G= (p.Arg111=)
c.2933G= (p.Arg978=)
1g.209617513C>GCA344584137LAMB3c.3125G>C (p.Arg1042Pro)
c.332G>C (p.Arg111Pro)
c.2933G>C (p.Arg978Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617513C>TCA1374972LAMB3c.3125G>A (p.Arg1042Gln)
c.332G>A (p.Arg111Gln)
c.2933G>A (p.Arg978Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617514G>ACA1374973LAMB3c.3124C>T (p.Arg1042Trp)
c.331C>T (p.Arg111Trp)
c.2932C>T (p.Arg978Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617514G>CCA1374974LAMB3c.3124C>G (p.Arg1042Gly)
c.331C>G (p.Arg111Gly)
c.2932C>G (p.Arg978Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617514G=CA1141376577LAMB3c.3124C= (p.Arg1042=)
c.331C= (p.Arg111=)
c.2932C= (p.Arg978=)
1g.209617514G>TCA423029541LAMB3c.3124C>A (p.Arg1042=)
c.331C>A (p.Arg111=)
c.2932C>A (p.Arg978=)
 dbSNP gnomAD v2 gnomAD v4
1g.209617515T>ACA423029545LAMB3c.3123A>T (p.Thr1041=)
c.330A>T (p.Thr110=)
c.2931A>T (p.Thr977=)
1g.209617515T>CCA423029544LAMB3c.3123A>G (p.Thr1041=)
c.330A>G (p.Thr110=)
c.2931A>G (p.Thr977=)
 ClinVar dbSNP gnomAD v4
1g.209617515T>GCA423029543LAMB3c.3123A>C (p.Thr1041=)
c.330A>C (p.Thr110=)
c.2931A>C (p.Thr977=)
1g.209617516G>ACA1374975LAMB3c.3122C>T (p.Thr1041Ile)
c.329C>T (p.Thr110Ile)
c.2930C>T (p.Thr977Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617516G>CCA344584143LAMB3c.3122C>G (p.Thr1041Arg)
c.329C>G (p.Thr110Arg)
c.2930C>G (p.Thr977Arg)
1g.209617516G=CA1148563185LAMB3c.3122C= (p.Thr1041=)
c.329C= (p.Thr110=)
c.2930C= (p.Thr977=)
1g.209617516G>TCA344584145LAMB3c.3122C>A (p.Thr1041Lys)
c.329C>A (p.Thr110Lys)
c.2930C>A (p.Thr977Lys)
1g.209617517T>ACA344584152LAMB3c.3121A>T (p.Thr1041Ser)
c.328A>T (p.Thr110Ser)
c.2929A>T (p.Thr977Ser)
1g.209617517T>CCA344584151LAMB3c.3121A>G (p.Thr1041Ala)
c.328A>G (p.Thr110Ala)
c.2929A>G (p.Thr977Ala)
1g.209617517T>GCA344584148LAMB3c.3121A>C (p.Thr1041Pro)
c.328A>C (p.Thr110Pro)
c.2929A>C (p.Thr977Pro)
1g.209617518C>ACA344584155LAMB3c.3120G>T (p.Trp1040Cys)
c.327G>T (p.Trp109Cys)
c.2928G>T (p.Trp976Cys)
1g.209617518C>GCA344584158LAMB3c.3120G>C (p.Trp1040Cys)
c.327G>C (p.Trp109Cys)
c.2928G>C (p.Trp976Cys)
1g.209617518C>TCA344584157LAMB3c.3120G>A (p.Trp1040Ter)
c.327G>A (p.Trp109Ter)
c.2928G>A (p.Trp976Ter)
1g.209617519C>ACA344584160LAMB3c.3119G>T (p.Trp1040Leu)
c.326G>T (p.Trp109Leu)
c.2927G>T (p.Trp976Leu)
1g.209617519C=CA2484295889LAMB3c.3119G= (p.Trp1040=)
c.326G= (p.Trp109=)
c.2927G= (p.Trp976=)
1g.209617519C>GCA344584161LAMB3c.3119G>C (p.Trp1040Ser)
c.326G>C (p.Trp109Ser)
c.2927G>C (p.Trp976Ser)
1g.209617519C>TCA16040688LAMB3c.3119G>A (p.Trp1040Ter)
c.326G>A (p.Trp109Ter)
c.2927G>A (p.Trp976Ter)
 ClinVar dbSNP
1g.209617520A>CCA344584163LAMB3c.3118T>G (p.Trp1040Gly)
c.325T>G (p.Trp109Gly)
c.2926T>G (p.Trp976Gly)
1g.209617520A>GCA344584166LAMB3c.3118T>C (p.Trp1040Arg)
c.325T>C (p.Trp109Arg)
c.2926T>C (p.Trp976Arg)
1g.209617520A>TCA344584165LAMB3c.3118T>A (p.Trp1040Arg)
c.325T>A (p.Trp109Arg)
c.2926T>A (p.Trp976Arg)
1g.209617521G>ACA423029549LAMB3c.3117C>T (p.Phe1039=)
c.324C>T (p.Phe108=)
c.2925C>T (p.Phe975=)
1g.209617521G>CCA344584167LAMB3c.3117C>G (p.Phe1039Leu)
c.324C>G (p.Phe108Leu)
c.2925C>G (p.Phe975Leu)
1g.209617521G>TCA344584168LAMB3c.3117C>A (p.Phe1039Leu)
c.324C>A (p.Phe108Leu)
c.2925C>A (p.Phe975Leu)
1g.209617522A>CCA344584169LAMB3c.3116T>G (p.Phe1039Cys)
c.323T>G (p.Phe108Cys)
c.2924T>G (p.Phe975Cys)
1g.209617522A>GCA344584170LAMB3c.3116T>C (p.Phe1039Ser)
c.323T>C (p.Phe108Ser)
c.2924T>C (p.Phe975Ser)
1g.209617522A>TCA344584171LAMB3c.3116T>A (p.Phe1039Tyr)
c.323T>A (p.Phe108Tyr)
c.2924T>A (p.Phe975Tyr)
1g.209617523A=CA2484295890LAMB3c.3115T= (p.Phe1039=)
c.322T= (p.Phe108=)
c.2923T= (p.Phe975=)
1g.209617523A>CCA344584172LAMB3c.3115T>G (p.Phe1039Val)
c.322T>G (p.Phe108Val)
c.2923T>G (p.Phe975Val)
1g.209617523A>GCA344584173LAMB3c.3115T>C (p.Phe1039Leu)
c.322T>C (p.Phe108Leu)
c.2923T>C (p.Phe975Leu)
1g.209617523A>TCA344584174LAMB3c.3115T>A (p.Phe1039Ile)
c.322T>A (p.Phe108Ile)
c.2923T>A (p.Phe975Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.209617524G>ACA423029552LAMB3c.3114C>T (p.Asp1038=)
c.321C>T (p.Asp107=)
c.2922C>T (p.Asp974=)
1g.209617524G>CCA344584176LAMB3c.3114C>G (p.Asp1038Glu)
c.321C>G (p.Asp107Glu)
c.2922C>G (p.Asp974Glu)
1g.209617524G>TCA344584175LAMB3c.3114C>A (p.Asp1038Glu)
c.321C>A (p.Asp107Glu)
c.2922C>A (p.Asp974Glu)
1g.209617525T>ACA344584177LAMB3c.3113A>T (p.Asp1038Val)
c.320A>T (p.Asp107Val)
c.2921A>T (p.Asp974Val)
1g.209617525T>CCA344584178LAMB3c.3113A>G (p.Asp1038Gly)
c.320A>G (p.Asp107Gly)
c.2921A>G (p.Asp974Gly)
1g.209617525T>GCA344584183LAMB3c.3113A>C (p.Asp1038Ala)
c.320A>C (p.Asp107Ala)
c.2921A>C (p.Asp974Ala)
1g.209617526C>ACA344584184LAMB3c.3112G>T (p.Asp1038Tyr)
c.319G>T (p.Asp107Tyr)
c.2920G>T (p.Asp974Tyr)
1g.209617526C=CA2484295891LAMB3c.3112G= (p.Asp1038=)
c.319G= (p.Asp107=)
c.2920G= (p.Asp974=)
1g.209617526C>GCA344584186LAMB3c.3112G>C (p.Asp1038His)
c.319G>C (p.Asp107His)
c.2920G>C (p.Asp974His)
1g.209617526C>TCA344584188LAMB3c.3112G>A (p.Asp1038Asn)
c.319G>A (p.Asp107Asn)
c.2920G>A (p.Asp974Asn)
 dbSNP
1g.209617527A>CCA423029554LAMB3c.3111T>G (p.Gly1037=)
c.318T>G (p.Gly106=)
c.2919T>G (p.Gly973=)
1g.209617527A>GCA423029555LAMB3c.3111T>C (p.Gly1037=)
c.318T>C (p.Gly106=)
c.2919T>C (p.Gly973=)
 ClinVar
1g.209617527A>TCA423029556LAMB3c.3111T>A (p.Gly1037=)
c.318T>A (p.Gly106=)
c.2919T>A (p.Gly973=)
 gnomAD v4
1g.209617528C>ACA344584195LAMB3c.3110G>T (p.Gly1037Val)
c.317G>T (p.Gly106Val)
c.2918G>T (p.Gly973Val)
1g.209617528C>GCA344584191LAMB3c.3110G>C (p.Gly1037Ala)
c.317G>C (p.Gly106Ala)
c.2918G>C (p.Gly973Ala)
1g.209617528C>TCA344584193LAMB3c.3110G>A (p.Gly1037Asp)
c.317G>A (p.Gly106Asp)
c.2918G>A (p.Gly973Asp)
 gnomAD v4
1g.209617529C>ACA344584199LAMB3c.3109G>T (p.Gly1037Cys)
c.316G>T (p.Gly106Cys)
c.2917G>T (p.Gly973Cys)
1g.209617529C>GCA344584201LAMB3c.3109G>C (p.Gly1037Arg)
c.316G>C (p.Gly106Arg)
c.2917G>C (p.Gly973Arg)
1g.209617529C>TCA344584203LAMB3c.3109G>A (p.Gly1037Ser)
c.316G>A (p.Gly106Ser)
c.2917G>A (p.Gly973Ser)
1g.209617530C>ACA423029560LAMB3c.3108G>T (p.Leu1036=)
c.315G>T (p.Leu105=)
c.2916G>T (p.Leu972=)
 gnomAD v4
1g.209617530C>GCA423029559LAMB3c.3108G>C (p.Leu1036=)
c.315G>C (p.Leu105=)
c.2916G>C (p.Leu972=)
1g.209617530C>TCA423029558LAMB3c.3108G>A (p.Leu1036=)
c.315G>A (p.Leu105=)
c.2916G>A (p.Leu972=)
1g.209617531A>CCA344584205LAMB3c.3107T>G (p.Leu1036Arg)
c.314T>G (p.Leu105Arg)
c.2915T>G (p.Leu972Arg)
1g.209617531A>GCA344584207LAMB3c.3107T>C (p.Leu1036Pro)
c.314T>C (p.Leu105Pro)
c.2915T>C (p.Leu972Pro)
1g.209617531A>TCA344584209LAMB3c.3107T>A (p.Leu1036Gln)
c.314T>A (p.Leu105Gln)
c.2915T>A (p.Leu972Gln)
1g.209617532G>ACA423029563LAMB3c.3106C>T (p.Leu1036=)
c.313C>T (p.Leu105=)
c.2914C>T (p.Leu972=)
1g.209617532G>CCA344584211LAMB3c.3106C>G (p.Leu1036Val)
c.313C>G (p.Leu105Val)
c.2914C>G (p.Leu972Val)
1g.209617532G>TCA344584213LAMB3c.3106C>A (p.Leu1036Met)
c.313C>A (p.Leu105Met)
c.2914C>A (p.Leu972Met)
1g.209617533C>ACA344584215LAMB3c.3105G>T (p.Gln1035His)
c.312G>T (p.Gln104His)
c.2913G>T (p.Gln971His)
1g.209617533C>GCA344584217LAMB3c.3105G>C (p.Gln1035His)
c.312G>C (p.Gln104His)
c.2913G>C (p.Gln971His)
1g.209617533C>TCA423029566LAMB3c.3105G>A (p.Gln1035=)
c.312G>A (p.Gln104=)
c.2913G>A (p.Gln971=)
1g.209617534T>ACA344584219LAMB3c.3104A>T (p.Gln1035Leu)
c.311A>T (p.Gln104Leu)
c.2912A>T (p.Gln971Leu)
1g.209617534T>CCA344584221LAMB3c.3104A>G (p.Gln1035Arg)
c.311A>G (p.Gln104Arg)
c.2912A>G (p.Gln971Arg)
1g.209617534T>GCA344584222LAMB3c.3104A>C (p.Gln1035Pro)
c.311A>C (p.Gln104Pro)
c.2912A>C (p.Gln971Pro)
 gnomAD v4
1g.209617535G>ACA344584228LAMB3c.3103C>T (p.Gln1035Ter)
c.310C>T (p.Gln104Ter)
c.2911C>T (p.Gln971Ter)
 gnomAD v4
1g.209617535G>CCA344584225LAMB3c.3103C>G (p.Gln1035Glu)
c.310C>G (p.Gln104Glu)
c.2911C>G (p.Gln971Glu)
1g.209617535G>TCA344584227LAMB3c.3103C>A (p.Gln1035Lys)
c.310C>A (p.Gln104Lys)
c.2911C>A (p.Gln971Lys)
1g.209617536C>ACA344584229LAMB3c.3102G>T (p.Lys1034Asn)
c.309G>T (p.Lys103Asn)
c.2910G>T (p.Lys970Asn)
1g.209617536C>GCA344584230LAMB3c.3102G>C (p.Lys1034Asn)
c.309G>C (p.Lys103Asn)
c.2910G>C (p.Lys970Asn)
1g.209617536C>TCA423029567LAMB3c.3102G>A (p.Lys1034=)
c.309G>A (p.Lys103=)
c.2910G>A (p.Lys970=)
 ClinVar gnomAD v4
1g.209617537T>ACA344584232LAMB3c.3101A>T (p.Lys1034Met)
c.308A>T (p.Lys103Met)
c.2909A>T (p.Lys970Met)
1g.209617537T>CCA344584234LAMB3c.3101A>G (p.Lys1034Arg)
c.308A>G (p.Lys103Arg)
c.2909A>G (p.Lys970Arg)
1g.209617537T>GCA344584236LAMB3c.3101A>C (p.Lys1034Thr)
c.308A>C (p.Lys103Thr)
c.2909A>C (p.Lys970Thr)

Number of alleles fetched