Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209617854C>ACA36749752LAMB3c.3051+53G>T (n.3051+53G>T)
c.258+53G>T (n.258+53G>T)
c.2859+53G>T (n.2859+53G>T)
 dbSNP gnomAD v2
1g.209617854C=CA2484296028LAMB3c.3051+53G= (n.3051+53G=)
c.258+53G= (n.258+53G=)
c.2859+53G= (n.2859+53G=)
1g.209617856A=CA1148261747LAMB3c.3051+51T= (n.3051+51T=)
c.258+51T= (n.258+51T=)
c.2859+51T= (n.2859+51T=)
1g.209617856A>CCA2484296029LAMB3c.3051+51T>G (n.3051+51T>G)
c.258+51T>G (n.258+51T>G)
c.2859+51T>G (n.2859+51T>G)
 dbSNP
1g.209617856A>GCA1374999LAMB3c.3051+51T>C (n.3051+51T>C)
c.258+51T>C (n.258+51T>C)
c.2859+51T>C (n.2859+51T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617856A>TCA1374998LAMB3c.3051+51T>A (n.3051+51T>A)
c.258+51T>A (n.258+51T>A)
c.2859+51T>A (n.2859+51T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617862C>TCA646385770LAMB3c.3051+45G>A (n.3051+45G>A)
c.258+45G>A (n.258+45G>A)
c.2859+45G>A (n.2859+45G>A)
 COSMIC
1g.209617864T>CCA2650320415LAMB3c.3051+43A>G (n.3051+43A>G)
c.258+43A>G (n.258+43A>G)
c.2859+43A>G (n.2859+43A>G)
 gnomAD v4
1g.209617865G>CCA2650320416LAMB3c.3051+42C>G (n.3051+42C>G)
c.258+42C>G (n.258+42C>G)
c.2859+42C>G (n.2859+42C>G)
 gnomAD v4
1g.209617866T>CCA2650320418LAMB3c.3051+41A>G (n.3051+41A>G)
c.258+41A>G (n.258+41A>G)
c.2859+41A>G (n.2859+41A>G)
 gnomAD v4
1g.209617868delCA2650320417LAMB3c.3051+41del (n.3051+41del)
c.258+41del (n.258+41del)
c.2859+41del (n.2859+41del)
 gnomAD v4
1g.209617868T>ACA1375000LAMB3c.3051+39A>T (n.3051+39A>T)
c.258+39A>T (n.258+39A>T)
c.2859+39A>T (n.2859+39A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617868T=CA2484296030LAMB3c.3051+39A= (n.3051+39A=)
c.258+39A= (n.258+39A=)
c.2859+39A= (n.2859+39A=)
1g.209617869A>GCA2650320420LAMB3c.3051+38T>C (n.3051+38T>C)
c.258+38T>C (n.258+38T>C)
c.2859+38T>C (n.2859+38T>C)
 gnomAD v4
1g.209617869dupCA2650320419LAMB3c.3051+38dup (n.3051+38dup)
c.258+38dup (n.258+38dup)
c.2859+38dup (n.2859+38dup)
 gnomAD v4
1g.209617870delCA2650320421LAMB3c.3051+37del (n.3051+37del)
c.258+37del (n.258+37del)
c.2859+37del (n.2859+37del)
 gnomAD v4
1g.209617870T>CCA2650320422LAMB3c.3051+37A>G (n.3051+37A>G)
c.258+37A>G (n.258+37A>G)
c.2859+37A>G (n.2859+37A>G)
 gnomAD v4
1g.209617872C=CA2484296031LAMB3c.3051+35G= (n.3051+35G=)
c.258+35G= (n.258+35G=)
c.2859+35G= (n.2859+35G=)
1g.209617872C>TCA529000151LAMB3c.3051+35G>A (n.3051+35G>A)
c.258+35G>A (n.258+35G>A)
c.2859+35G>A (n.2859+35G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.209617873C>ACA2650320423LAMB3c.3051+34G>T (n.3051+34G>T)
c.258+34G>T (n.258+34G>T)
c.2859+34G>T (n.2859+34G>T)
 gnomAD v4
1g.209617874C=CA2484296033LAMB3c.3051+33G= (n.3051+33G=)
c.258+33G= (n.258+33G=)
c.2859+33G= (n.2859+33G=)
1g.209617874C>TCA529000152LAMB3c.3051+33G>A (n.3051+33G>A)
c.258+33G>A (n.258+33G>A)
c.2859+33G>A (n.2859+33G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209617874_209617875delinsCACA2484296032LAMB3c.3051+32_3051+33delinsTG (n.3051+32_3051+33delinsTG)
c.258+32_258+33delinsTG (n.258+32_258+33delinsTG)
c.2859+32_2859+33delinsTG (n.2859+32_2859+33delinsTG)
1g.209617874_209617886delinsCAAATATGGGCGGCA2484296034LAMB3c.3051+21_3051+33delinsCCGCCCATATTTG (n.3051+21_3051+33delinsCCGCCCATATTTG)
c.258+21_258+33delinsCCGCCCATATTTG (n.258+21_258+33delinsCCGCCCATATTTG)
c.2859+21_2859+33delinsCCGCCCATATTTG (n.2859+21_2859+33delinsCCGCCCATATTTG)
1g.209617877delCA1375001LAMB3c.3051+32del (n.3051+32del)
c.258+32del (n.258+32del)
c.2859+32del (n.2859+32del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617876_209617887delCA1011766185LAMB3c.3051+21_3051+32del (n.3051+21_3051+32del)
c.258+21_258+32del (n.258+21_258+32del)
c.2859+21_2859+32del (n.2859+21_2859+32del)
 dbSNP gnomAD v3 gnomAD v4
1g.209617876A>TCA2573998333LAMB3c.3051+31T>A (n.3051+31T>A)
c.258+31T>A (n.258+31T>A)
c.2859+31T>A (n.2859+31T>A)
1g.209617878T>CCA2573998338LAMB3c.3051+29A>G (n.3051+29A>G)
c.258+29A>G (n.258+29A>G)
c.2859+29A>G (n.2859+29A>G)
 gnomAD v4
1g.209617879A>TCA2573998339LAMB3c.3051+28T>A (n.3051+28T>A)
c.258+28T>A (n.258+28T>A)
c.2859+28T>A (n.2859+28T>A)
1g.209617880T>CCA730846388LAMB3c.3051+27A>G (n.3051+27A>G)
c.258+27A>G (n.258+27A>G)
c.2859+27A>G (n.2859+27A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.209617880T>GCA2484296036LAMB3c.3051+27A>C (n.3051+27A>C)
c.258+27A>C (n.258+27A>C)
c.2859+27A>C (n.2859+27A>C)
 dbSNP
1g.209617880T=CA2484296037LAMB3c.3051+27A= (n.3051+27A=)
c.258+27A= (n.258+27A=)
c.2859+27A= (n.2859+27A=)
1g.209617880_209617881delinsTGCA2484296035LAMB3c.3051+26_3051+27delinsCA (n.3051+26_3051+27delinsCA)
c.258+26_258+27delinsCA (n.258+26_258+27delinsCA)
c.2859+26_2859+27delinsCA (n.2859+26_2859+27delinsCA)
1g.209617883delCA529000153LAMB3c.3051+26del (n.3051+26del)
c.258+26del (n.258+26del)
c.2859+26del (n.2859+26del)
 dbSNP gnomAD v2 gnomAD v4
1g.209617883G>CCA2484296039LAMB3c.3051+24C>G (n.3051+24C>G)
c.258+24C>G (n.258+24C>G)
c.2859+24C>G (n.2859+24C>G)
 dbSNP
1g.209617883G=CA2484296038LAMB3c.3051+24C= (n.3051+24C=)
c.258+24C= (n.258+24C=)
c.2859+24C= (n.2859+24C=)
1g.209617884_209617885delCA2573998388LAMB3c.3051+23_3051+24del (n.3051+23_3051+24del)
c.258+23_258+24del (n.258+23_258+24del)
c.2859+23_2859+24del (n.2859+23_2859+24del)
1g.209617884C=CA1144145899LAMB3c.3051+23G= (n.3051+23G=)
c.258+23G= (n.258+23G=)
c.2859+23G= (n.2859+23G=)
1g.209617884C>TCA1375002LAMB3c.3051+23G>A (n.3051+23G>A)
c.258+23G>A (n.258+23G>A)
c.2859+23G>A (n.2859+23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617885G>ACA1375003LAMB3c.3051+22C>T (n.3051+22C>T)
c.258+22C>T (n.258+22C>T)
c.2859+22C>T (n.2859+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617885G=CA1143532806LAMB3c.3051+22C= (n.3051+22C=)
c.258+22C= (n.258+22C=)
c.2859+22C= (n.2859+22C=)
1g.209617885G>TCA2484296040LAMB3c.3051+22C>A (n.3051+22C>A)
c.258+22C>A (n.258+22C>A)
c.2859+22C>A (n.2859+22C>A)
 dbSNP
1g.209617886G>ACA36749770LAMB3c.3051+21C>T (n.3051+21C>T)
c.258+21C>T (n.258+21C>T)
c.2859+21C>T (n.2859+21C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.209617886G>CCA2697843662LAMB3c.3051+21C>G (n.3051+21C>G)
c.258+21C>G (n.258+21C>G)
c.2859+21C>G (n.2859+21C>G)
 dbSNP
1g.209617886G=CA1143948519LAMB3c.3051+21C= (n.3051+21C=)
c.258+21C= (n.258+21C=)
c.2859+21C= (n.2859+21C=)
1g.209617886G>TCA2573998397LAMB3c.3051+21C>A (n.3051+21C>A)
c.258+21C>A (n.258+21C>A)
c.2859+21C>A (n.2859+21C>A)
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.209617888G>ACA2484296043LAMB3c.3051+19C>T (n.3051+19C>T)
c.258+19C>T (n.258+19C>T)
c.2859+19C>T (n.2859+19C>T)
 ClinVar dbSNP gnomAD v4
1g.209617888G=CA2484296042LAMB3c.3051+19C= (n.3051+19C=)
c.258+19C= (n.258+19C=)
c.2859+19C= (n.2859+19C=)
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

Number of alleles fetched