Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209617886_209617890delinsGAGGACA2484296041LAMB3c.3051+17_3051+21delinsTCCTC (n.3051+17_3051+21delinsTCCTC)
c.258+17_258+21delinsTCCTC (n.258+17_258+21delinsTCCTC)
c.2859+17_2859+21delinsTCCTC (n.2859+17_2859+21delinsTCCTC)
1g.209617889_209617892delCA730846406LAMB3c.3051+17_3051+20del (n.3051+17_3051+20del)
c.258+17_258+20del (n.258+17_258+20del)
c.2859+17_2859+20del (n.2859+17_2859+20del)
 dbSNP gnomAD v3 gnomAD v4
1g.209617889G>ACA1375004LAMB3c.3051+18C>T (n.3051+18C>T)
c.258+18C>T (n.258+18C>T)
c.2859+18C>T (n.2859+18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617889G=CA2484296044LAMB3c.3051+18C= (n.3051+18C=)
c.258+18C= (n.258+18C=)
c.2859+18C= (n.2859+18C=)
1g.209617889G>TCA529000154LAMB3c.3051+18C>A (n.3051+18C>A)
c.258+18C>A (n.258+18C>A)
c.2859+18C>A (n.2859+18C>A)
 dbSNP gnomAD v2
1g.209617891A=CA2484296045LAMB3c.3051+16T= (n.3051+16T=)
c.258+16T= (n.258+16T=)
c.2859+16T= (n.2859+16T=)
1g.209617891A>GCA1375005LAMB3c.3051+16T>C (n.3051+16T>C)
c.258+16T>C (n.258+16T>C)
c.2859+16T>C (n.2859+16T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617892G>ACA2650320424LAMB3c.3051+15C>T (n.3051+15C>T)
c.258+15C>T (n.258+15C>T)
c.2859+15C>T (n.2859+15C>T)
 ClinVar gnomAD v4
1g.209617893C>ACA1375006LAMB3c.3051+14G>T (n.3051+14G>T)
c.258+14G>T (n.258+14G>T)
c.2859+14G>T (n.2859+14G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617893C=CA2484296046LAMB3c.3051+14G= (n.3051+14G=)
c.258+14G= (n.258+14G=)
c.2859+14G= (n.2859+14G=)
1g.209617895A>CCA2650320425LAMB3c.3051+12T>G (n.3051+12T>G)
c.258+12T>G (n.258+12T>G)
c.2859+12T>G (n.2859+12T>G)
 gnomAD v4
1g.209617896T>ACA1375007LAMB3c.3051+11A>T (n.3051+11A>T)
c.258+11A>T (n.258+11A>T)
c.2859+11A>T (n.2859+11A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617896T>CCA2573998417LAMB3c.3051+11A>G (n.3051+11A>G)
c.258+11A>G (n.258+11A>G)
c.2859+11A>G (n.2859+11A>G)
1g.209617896T=CA1143465577LAMB3c.3051+11A= (n.3051+11A=)
c.258+11A= (n.258+11A=)
c.2859+11A= (n.2859+11A=)
1g.209617898A=CA2484296047LAMB3c.3051+9T= (n.3051+9T=)
c.258+9T= (n.258+9T=)
c.2859+9T= (n.2859+9T=)
1g.209617898A>CCA2650320426LAMB3c.3051+9T>G (n.3051+9T>G)
c.258+9T>G (n.258+9T>G)
c.2859+9T>G (n.2859+9T>G)
 gnomAD v4
1g.209617898A>GCA36749778LAMB3c.3051+9T>C (n.3051+9T>C)
c.258+9T>C (n.258+9T>C)
c.2859+9T>C (n.2859+9T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617899T>CCA2573998429LAMB3c.3051+8A>G (n.3051+8A>G)
c.258+8A>G (n.258+8A>G)
c.2859+8A>G (n.2859+8A>G)
1g.209617899T>GCA36749782LAMB3c.3051+8A>C (n.3051+8A>C)
c.258+8A>C (n.258+8A>C)
c.2859+8A>C (n.2859+8A>C)
 dbSNP
1g.209617899T=CA2484296048LAMB3c.3051+8A= (n.3051+8A=)
c.258+8A= (n.258+8A=)
c.2859+8A= (n.2859+8A=)
1g.209617901C>ACA2650320427LAMB3c.3051+6G>T (n.3051+6G>T)
c.258+6G>T (n.258+6G>T)
c.2859+6G>T (n.2859+6G>T)
 gnomAD v4
1g.209617902C=CA2484296049LAMB3c.3051+5G= (n.3051+5G=)
c.258+5G= (n.258+5G=)
c.2859+5G= (n.2859+5G=)
1g.209617902C>GCA36749785LAMB3c.3051+5G>C (n.3051+5G>C)
c.258+5G>C (n.258+5G>C)
c.2859+5G>C (n.2859+5G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.209617903T>CCA2650320428LAMB3c.3051+4A>G (n.3051+4A>G)
c.258+4A>G (n.258+4A>G)
c.2859+4A>G (n.2859+4A>G)
 gnomAD v4
1g.209617904C=CA1142631056LAMB3c.3051+3G= (n.3051+3G=)
c.258+3G= (n.258+3G=)
c.2859+3G= (n.2859+3G=)
1g.209617904C>TCA1375008LAMB3c.3051+3G>A (n.3051+3G>A)
c.258+3G>A (n.258+3G>A)
c.2859+3G>A (n.2859+3G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617905A>CCA344584591LAMB3c.3051+2T>G (n.3051+2T>G)
c.258+2T>G (n.258+2T>G)
c.2859+2T>G (n.2859+2T>G)
1g.209617905A>GCA344584592LAMB3c.3051+2T>C (n.3051+2T>C)
c.258+2T>C (n.258+2T>C)
c.2859+2T>C (n.2859+2T>C)
1g.209617905A>TCA344584593LAMB3c.3051+2T>A (n.3051+2T>A)
c.258+2T>A (n.258+2T>A)
c.2859+2T>A (n.2859+2T>A)
1g.209617906C>ACA344584595LAMB3c.3051+1G>T (n.3051+1G>T)
c.258+1G>T (n.258+1G>T)
c.2859+1G>T (n.2859+1G>T)
1g.209617906C>GCA344584597LAMB3c.3051+1G>C (n.3051+1G>C)
c.258+1G>C (n.258+1G>C)
c.2859+1G>C (n.2859+1G>C)
1g.209617906C>TCA344584598LAMB3c.3051+1G>A (n.3051+1G>A)
c.258+1G>A (n.258+1G>A)
c.2859+1G>A (n.2859+1G>A)
1g.209617907C>ACA344584599LAMB3c.3051G>T (p.Glu1017Asp)
c.258G>T (p.Glu86Asp)
c.2859G>T (p.Glu953Asp)
1g.209617907C=CA1143406815LAMB3c.3051G= (p.Glu1017=)
c.258G= (p.Glu86=)
c.2859G= (p.Glu953=)
1g.209617907C>GCA36749809LAMB3c.3051G>C (p.Glu1017Asp)
c.258G>C (p.Glu86Asp)
c.2859G>C (p.Glu953Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.209617907C>TCA423029610LAMB3c.3051G>A (p.Glu1017=)
c.258G>A (p.Glu86=)
c.2859G>A (p.Glu953=)
1g.209617908T>ACA344584601LAMB3c.3050A>T (p.Glu1017Val)
c.257A>T (p.Glu86Val)
c.2858A>T (p.Glu953Val)
1g.209617908T>CCA344584603LAMB3c.3050A>G (p.Glu1017Gly)
c.257A>G (p.Glu86Gly)
c.2858A>G (p.Glu953Gly)
1g.209617908T>GCA344584605LAMB3c.3050A>C (p.Glu1017Ala)
c.257A>C (p.Glu86Ala)
c.2858A>C (p.Glu953Ala)
1g.209617909C>ACA344584613LAMB3c.3049G>T (p.Glu1017Ter)
c.256G>T (p.Glu86Ter)
c.2857G>T (p.Glu953Ter)
1g.209617909C>GCA344584609LAMB3c.3049G>C (p.Glu1017Gln)
c.256G>C (p.Glu86Gln)
c.2857G>C (p.Glu953Gln)
 COSMIC
1g.209617909C>TCA344584611LAMB3c.3049G>A (p.Glu1017Lys)
c.256G>A (p.Glu86Lys)
c.2857G>A (p.Glu953Lys)
 COSMIC
1g.209617910A=CA2484296050LAMB3c.3048T= (p.Ala1016=)
c.255T= (p.Ala85=)
c.2856T= (p.Ala952=)
1g.209617910A>CCA423029611LAMB3c.3048T>G (p.Ala1016=)
c.255T>G (p.Ala85=)
c.2856T>G (p.Ala952=)
1g.209617910A>GCA36749813LAMB3c.3048T>C (p.Ala1016=)
c.255T>C (p.Ala85=)
c.2856T>C (p.Ala952=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209617910A>TCA423029612LAMB3c.3048T>A (p.Ala1016=)
c.255T>A (p.Ala85=)
c.2856T>A (p.Ala952=)
1g.209617911G>ACA344584614LAMB3c.3047C>T (p.Ala1016Val)
c.254C>T (p.Ala85Val)
c.2855C>T (p.Ala952Val)
1g.209617911G>CCA344584616LAMB3c.3047C>G (p.Ala1016Gly)
c.254C>G (p.Ala85Gly)
c.2855C>G (p.Ala952Gly)
1g.209617911G>TCA344584618LAMB3c.3047C>A (p.Ala1016Asp)
c.254C>A (p.Ala85Asp)
c.2855C>A (p.Ala952Asp)
1g.209617912C>ACA344584621LAMB3c.3046G>T (p.Ala1016Ser)
c.253G>T (p.Ala85Ser)
c.2854G>T (p.Ala952Ser)
1g.209617912C>GCA344584623LAMB3c.3046G>C (p.Ala1016Pro)
c.253G>C (p.Ala85Pro)
c.2854G>C (p.Ala952Pro)
1g.209617912C>TCA344584625LAMB3c.3046G>A (p.Ala1016Thr)
c.253G>A (p.Ala85Thr)
c.2854G>A (p.Ala952Thr)
1g.209617913A>CCA423029613LAMB3c.3045T>G (p.Val1015=)
c.252T>G (p.Val84=)
c.2853T>G (p.Val951=)
1g.209617913A>GCA423029614LAMB3c.3045T>C (p.Val1015=)
c.252T>C (p.Val84=)
c.2853T>C (p.Val951=)
1g.209617913A>TCA423029615LAMB3c.3045T>A (p.Val1015=)
c.252T>A (p.Val84=)
c.2853T>A (p.Val951=)
1g.209617914A>CCA344584626LAMB3c.3044T>G (p.Val1015Gly)
c.251T>G (p.Val84Gly)
c.2852T>G (p.Val951Gly)
1g.209617914A>GCA344584627LAMB3c.3044T>C (p.Val1015Ala)
c.251T>C (p.Val84Ala)
c.2852T>C (p.Val951Ala)
1g.209617914A>TCA344584628LAMB3c.3044T>A (p.Val1015Asp)
c.251T>A (p.Val84Asp)
c.2852T>A (p.Val951Asp)
1g.209617915C>ACA344584631LAMB3c.3043G>T (p.Val1015Phe)
c.250G>T (p.Val84Phe)
c.2851G>T (p.Val951Phe)
1g.209617915C>GCA344584632LAMB3c.3043G>C (p.Val1015Leu)
c.250G>C (p.Val84Leu)
c.2851G>C (p.Val951Leu)
1g.209617915C>TCA344584634LAMB3c.3043G>A (p.Val1015Ile)
c.250G>A (p.Val84Ile)
c.2851G>A (p.Val951Ile)
 gnomAD v4
1g.209617916C>ACA344584637LAMB3c.3042G>T (p.Arg1014Ser)
c.249G>T (p.Arg83Ser)
c.2850G>T (p.Arg950Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617916C=CA1143370113LAMB3c.3042G= (p.Arg1014=)
c.249G= (p.Arg83=)
c.2850G= (p.Arg950=)
1g.209617916C>GCA36749820LAMB3c.3042G>C (p.Arg1014Ser)
c.249G>C (p.Arg83Ser)
c.2850G>C (p.Arg950Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.209617916C>TCA423029616LAMB3c.3042G>A (p.Arg1014=)
c.249G>A (p.Arg83=)
c.2850G>A (p.Arg950=)
 ClinVar
1g.209617917C>ACA344584639LAMB3c.3041G>T (p.Arg1014Met)
c.248G>T (p.Arg83Met)
c.2849G>T (p.Arg950Met)
1g.209617917C>GCA344584640LAMB3c.3041G>C (p.Arg1014Thr)
c.248G>C (p.Arg83Thr)
c.2849G>C (p.Arg950Thr)
1g.209617917C>TCA344584641LAMB3c.3041G>A (p.Arg1014Lys)
c.248G>A (p.Arg83Lys)
c.2849G>A (p.Arg950Lys)
 gnomAD v4
1g.209617918T>ACA344584642LAMB3c.3040A>T (p.Arg1014Trp)
c.247A>T (p.Arg83Trp)
c.2848A>T (p.Arg950Trp)
1g.209617918T>CCA344584643LAMB3c.3040A>G (p.Arg1014Gly)
c.247A>G (p.Arg83Gly)
c.2848A>G (p.Arg950Gly)
 dbSNP gnomAD v4
1g.209617918T>GCA423029617LAMB3c.3040A>C (p.Arg1014=)
c.247A>C (p.Arg83=)
c.2848A>C (p.Arg950=)
 ClinVar
1g.209617918T=CA2484296051LAMB3c.3040A= (p.Arg1014=)
c.247A= (p.Arg83=)
c.2848A= (p.Arg950=)
1g.209617919G>ACA36749823LAMB3c.3039C>T (p.Asp1013=)
c.246C>T (p.Asp82=)
c.2847C>T (p.Asp949=)
 dbSNP
1g.209617919G>CCA344584645LAMB3c.3039C>G (p.Asp1013Glu)
c.246C>G (p.Asp82Glu)
c.2847C>G (p.Asp949Glu)
 gnomAD v4
1g.209617919G=CA2484296052LAMB3c.3039C= (p.Asp1013=)
c.246C= (p.Asp82=)
c.2847C= (p.Asp949=)
1g.209617919G>TCA344584647LAMB3c.3039C>A (p.Asp1013Glu)
c.246C>A (p.Asp82Glu)
c.2847C>A (p.Asp949Glu)
1g.209617920T>ACA344584650LAMB3c.3038A>T (p.Asp1013Val)
c.245A>T (p.Asp82Val)
c.2846A>T (p.Asp949Val)
 gnomAD v4
1g.209617920T>CCA344584652LAMB3c.3038A>G (p.Asp1013Gly)
c.245A>G (p.Asp82Gly)
c.2846A>G (p.Asp949Gly)
1g.209617920T>GCA344584654LAMB3c.3038A>C (p.Asp1013Ala)
c.245A>C (p.Asp82Ala)
c.2846A>C (p.Asp949Ala)
1g.209617921C>ACA344584657LAMB3c.3037G>T (p.Asp1013Tyr)
c.244G>T (p.Asp82Tyr)
c.2845G>T (p.Asp949Tyr)
1g.209617921C>GCA344584658LAMB3c.3037G>C (p.Asp1013His)
c.244G>C (p.Asp82His)
c.2845G>C (p.Asp949His)
1g.209617921C>TCA344584660LAMB3c.3037G>A (p.Asp1013Asn)
c.244G>A (p.Asp82Asn)
c.2845G>A (p.Asp949Asn)
 COSMIC
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)

Number of alleles fetched