Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209630558A>GCA2650323763LAMB3c.943+57T>C (n.943+57T>C)
c.751+57T>C (n.751+57T>C)
 gnomAD v4
1g.209630559G>TCA2574003725LAMB3c.943+56C>A (n.943+56C>A)
c.751+56C>A (n.751+56C>A)
1g.209630560A>GCA2650323764LAMB3c.943+55T>C (n.943+55T>C)
c.751+55T>C (n.751+55T>C)
 gnomAD v4
1g.209630561G>ACA1375760LAMB3c.943+54C>T (n.943+54C>T)
c.751+54C>T (n.751+54C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630561G=CA2484301141LAMB3c.943+54C= (n.943+54C=)
c.751+54C= (n.751+54C=)
1g.209630564delCA2650323765LAMB3c.943+54del (n.943+54del)
c.751+54del (n.751+54del)
 gnomAD v4
1g.209630562G>ACA1375761LAMB3c.943+53C>T (n.943+53C>T)
c.751+53C>T (n.751+53C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630562G=CA2484301142LAMB3c.943+53C= (n.943+53C=)
c.751+53C= (n.751+53C=)
1g.209630563_209630574delCA2511233713LAMB3c.943+42_943+53del (n.943+42_943+53del)
c.751+42_751+53del (n.751+42_751+53del)
 gnomAD v4
1g.209630563G>CCA1375762LAMB3c.943+52C>G (n.943+52C>G)
c.751+52C>G (n.751+52C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630563G=CA1140512933LAMB3c.943+52C= (n.943+52C=)
c.751+52C= (n.751+52C=)
1g.209630563_209630575delinsGGCCAGCACTCGACA2484301143LAMB3c.943+40_943+52delinsTCGAGTGCTGGCC (n.943+40_943+52delinsTCGAGTGCTGGCC)
c.751+40_751+52delinsTCGAGTGCTGGCC (n.751+40_751+52delinsTCGAGTGCTGGCC)
1g.209630564G>ACA2650323766LAMB3c.943+51C>T (n.943+51C>T)
c.751+51C>T (n.751+51C>T)
 gnomAD v4
1g.209630564_209630565delinsGCCA2484301144LAMB3c.943+50_943+51delinsGC (n.943+50_943+51delinsGC)
c.751+50_751+51delinsGC (n.751+50_751+51delinsGC)
1g.209630564_209630575delCA528652853LAMB3c.943+40_943+51del (n.943+40_943+51del)
c.751+40_751+51del (n.751+40_751+51del)
 dbSNP gnomAD v2
1g.209630565C=CA2484301145LAMB3c.943+50G= (n.943+50G=)
c.751+50G= (n.751+50G=)
1g.209630565C>TCA528652854LAMB3c.943+50G>A (n.943+50G>A)
c.751+50G>A (n.751+50G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630566delCA36758790LAMB3c.943+50del (n.943+50del)
c.751+50del (n.751+50del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630565_209630570delinsCCAGCACA2484301146LAMB3c.943+45_943+50delinsTGCTGG (n.943+45_943+50delinsTGCTGG)
c.751+45_751+50delinsTGCTGG (n.751+45_751+50delinsTGCTGG)
1g.209630566C>TCA2574003746LAMB3c.943+49G>A (n.943+49G>A)
c.751+49G>A (n.751+49G>A)
1g.209630567_209630571delCA1011768389LAMB3c.943+45_943+49del (n.943+45_943+49del)
c.751+45_751+49del (n.751+45_751+49del)
 dbSNP gnomAD v3 gnomAD v4
1g.209630569_209630574delinsCACTCGCA2484301147LAMB3c.943+41_943+46delinsCGAGTG (n.943+41_943+46delinsCGAGTG)
c.751+41_751+46delinsCGAGTG (n.751+41_751+46delinsCGAGTG)
1g.209630572_209630576delCA1011768390LAMB3c.943+41_943+45del (n.943+41_943+45del)
c.751+41_751+45del (n.751+41_751+45del)
 dbSNP gnomAD v3 gnomAD v4
1g.209630571C>ACA1375763LAMB3c.943+44G>T (n.943+44G>T)
c.751+44G>T (n.751+44G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630571C=CA2484301148LAMB3c.943+44G= (n.943+44G=)
c.751+44G= (n.751+44G=)
1g.209630571C>GCA2650323768LAMB3c.943+44G>C (n.943+44G>C)
c.751+44G>C (n.751+44G>C)
 gnomAD v4
1g.209630571C>TCA730833855LAMB3c.943+44G>A (n.943+44G>A)
c.751+44G>A (n.751+44G>A)
 dbSNP gnomAD v4
1g.209630571_209630572insACA2650323769LAMB3c.943+43_943+44insT (n.943+43_943+44insT)
c.751+43_751+44insT (n.751+43_751+44insT)
 gnomAD v4
1g.209630572T>ACA2484301150LAMB3c.943+43A>T (n.943+43A>T)
c.751+43A>T (n.751+43A>T)
 dbSNP
1g.209630572T=CA2484301149LAMB3c.943+43A= (n.943+43A=)
c.751+43A= (n.751+43A=)
1g.209630573C=CA2484301151LAMB3c.943+42G= (n.943+42G=)
c.751+42G= (n.751+42G=)
1g.209630573C>GCA528652855LAMB3c.943+42G>C (n.943+42G>C)
c.751+42G>C (n.751+42G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.209630573C>TCA36758793LAMB3c.943+42G>A (n.943+42G>A)
c.751+42G>A (n.751+42G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630574G>ACA1375765LAMB3c.943+41C>T (n.943+41C>T)
c.751+41C>T (n.751+41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630574G>CCA1375764LAMB3c.943+41C>G (n.943+41C>G)
c.751+41C>G (n.751+41C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630574G=CA2484301152LAMB3c.943+41C= (n.943+41C=)
c.751+41C= (n.751+41C=)
1g.209630574G>TCA1011768397LAMB3c.943+41C>A (n.943+41C>A)
c.751+41C>A (n.751+41C>A)
 gnomAD v3 gnomAD v4
1g.209630575A=CA2484301153LAMB3c.943+40T= (n.943+40T=)
c.751+40T= (n.751+40T=)
1g.209630575A>CCA2650323770LAMB3c.943+40T>G (n.943+40T>G)
c.751+40T>G (n.751+40T>G)
 gnomAD v4
1g.209630575A>TCA528652856LAMB3c.943+40T>A (n.943+40T>A)
c.751+40T>A (n.751+40T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.209630576C>ACA2650323771LAMB3c.943+39G>T (n.943+39G>T)
c.751+39G>T (n.751+39G>T)
 gnomAD v4
1g.209630576C=CA2484301154LAMB3c.943+39G= (n.943+39G=)
c.751+39G= (n.751+39G=)
1g.209630576C>TCA1011768400LAMB3c.943+39G>A (n.943+39G>A)
c.751+39G>A (n.751+39G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.209630577C>ACA2650323772LAMB3c.943+38G>T (n.943+38G>T)
c.751+38G>T (n.751+38G>T)
 gnomAD v4
1g.209630577C>TCA646386175LAMB3c.943+38G>A (n.943+38G>A)
c.751+38G>A (n.751+38G>A)
 gnomAD v4 COSMIC
1g.209630578C=CA2484301155LAMB3c.943+37G= (n.943+37G=)
c.751+37G= (n.751+37G=)
1g.209630578C>TCA528652857LAMB3c.943+37G>A (n.943+37G>A)
c.751+37G>A (n.751+37G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.209630583C>ACA2650323773LAMB3c.943+32G>T (n.943+32G>T)
c.751+32G>T (n.751+32G>T)
 gnomAD v4
1g.209630583C=CA2484301156LAMB3c.943+32G= (n.943+32G=)
c.751+32G= (n.751+32G=)
1g.209630583C>GCA528652858LAMB3c.943+32G>C (n.943+32G>C)
c.751+32G>C (n.751+32G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630584C=CA1144477969LAMB3c.943+31G= (n.943+31G=)
c.751+31G= (n.751+31G=)
1g.209630584C>GCA1011768402LAMB3c.943+31G>C (n.943+31G>C)
c.751+31G>C (n.751+31G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.209630584C>TCA1375766LAMB3c.943+31G>A (n.943+31G>A)
c.751+31G>A (n.751+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630585T>CCA2650323774LAMB3c.943+30A>G (n.943+30A>G)
c.751+30A>G (n.751+30A>G)
 gnomAD v4
1g.209630586A=CA2484301157LAMB3c.943+29T= (n.943+29T=)
c.751+29T= (n.751+29T=)
1g.209630586A>GCA36758811LAMB3c.943+29T>C (n.943+29T>C)
c.751+29T>C (n.751+29T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.209630587C>ACA2484301159LAMB3c.943+28G>T (n.943+28G>T)
c.751+28G>T (n.751+28G>T)
 dbSNP gnomAD v4
1g.209630587C=CA2484301158LAMB3c.943+28G= (n.943+28G=)
c.751+28G= (n.751+28G=)
1g.209630588A=CA2484301160LAMB3c.943+27T= (n.943+27T=)
c.751+27T= (n.751+27T=)
1g.209630588A>GCA2484301161LAMB3c.943+27T>C (n.943+27T>C)
c.751+27T>C (n.751+27T>C)
 dbSNP gnomAD v4
1g.209630589G>ACA2484301162LAMB3c.943+26C>T (n.943+26C>T)
c.751+26C>T (n.751+26C>T)
 dbSNP gnomAD v4
1g.209630589G>CCA2650323775LAMB3c.943+26C>G (n.943+26C>G)
c.751+26C>G (n.751+26C>G)
 gnomAD v4
1g.209630589G=CA2484301163LAMB3c.943+26C= (n.943+26C=)
c.751+26C= (n.751+26C=)
1g.209630590G>ACA2650323776LAMB3c.943+25C>T (n.943+25C>T)
c.751+25C>T (n.751+25C>T)
 gnomAD v4
1g.209630590G>CCA2574003763LAMB3c.943+25C>G (n.943+25C>G)
c.751+25C>G (n.751+25C>G)
1g.209630590G>TCA2747563244LAMB3c.943+25C>A (n.943+25C>A)
c.751+25C>A (n.751+25C>A)
1g.209630591G>TCA2747563245LAMB3c.943+24C>A (n.943+24C>A)
c.751+24C>A (n.751+24C>A)
1g.209630592G>ACA1375768LAMB3c.943+23C>T (n.943+23C>T)
c.751+23C>T (n.751+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630592G=CA1143613428LAMB3c.943+23C= (n.943+23C=)
c.751+23C= (n.751+23C=)
1g.209630592G>TCA1375767LAMB3c.943+23C>A (n.943+23C>A)
c.751+23C>A (n.751+23C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630593A=CA2484301164LAMB3c.943+22T= (n.943+22T=)
c.751+22T= (n.751+22T=)
1g.209630593A>TCA528652859LAMB3c.943+22T>A (n.943+22T>A)
c.751+22T>A (n.751+22T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.209630594G>TCA2574003771LAMB3c.943+21C>A (n.943+21C>A)
c.751+21C>A (n.751+21C>A)
 gnomAD v4
1g.209630595G=CA2484301165LAMB3c.943+20C= (n.943+20C=)
c.751+20C= (n.751+20C=)
1g.209630595G>TCA2650323777LAMB3c.943+20C>A (n.943+20C>A)
c.751+20C>A (n.751+20C>A)
 gnomAD v4
1g.209630596G>ACA36758822LAMB3c.943+19C>T (n.943+19C>T)
c.751+19C>T (n.751+19C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209630596G=CA1143837723LAMB3c.943+19C= (n.943+19C=)
c.751+19C= (n.751+19C=)
1g.209630597_209630599dupCA1375769LAMB3c.943+17_943+19dup (n.943+17_943+19dup)
c.751+17_751+19dup (n.751+17_751+19dup)
 dbSNP ExAC gnomAD v2
1g.209630596_209630597insTCA1375770LAMB3c.943+18_943+19insA (n.943+18_943+19insA)
c.751+18_751+19insA (n.751+18_751+19insA)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630597G>ACA2581696675LAMB3c.943+18C>T (n.943+18C>T)
c.751+18C>T (n.751+18C>T)
1g.209630597G>CCA2581696674LAMB3c.943+18C>G (n.943+18C>G)
c.751+18C>G (n.751+18C>G)
1g.209630597G=CA1140157230LAMB3c.943+18C= (n.943+18C=)
c.751+18C= (n.751+18C=)
1g.209630597G>TCA1375771LAMB3c.943+18C>A (n.943+18C>A)
c.751+18C>A (n.751+18C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630600A>TCA2574003845LAMB3c.943+15T>A (n.943+15T>A)
c.751+15T>A (n.751+15T>A)
 ClinVar
1g.209630601T>CCA2650323778LAMB3c.943+14A>G (n.943+14A>G)
c.751+14A>G (n.751+14A>G)
 gnomAD v4
1g.209630603C=CA2484301166LAMB3c.943+12G= (n.943+12G=)
c.751+12G= (n.751+12G=)
1g.209630603C>GCA1375772LAMB3c.943+12G>C (n.943+12G>C)
c.751+12G>C (n.751+12G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630603C>TCA2650323779LAMB3c.943+12G>A (n.943+12G>A)
c.751+12G>A (n.751+12G>A)
 gnomAD v4
1g.209630604A=CA2484301167LAMB3c.943+11T= (n.943+11T=)
c.751+11T= (n.751+11T=)
1g.209630604A>CCA1375773LAMB3c.943+11T>G (n.943+11T>G)
c.751+11T>G (n.751+11T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630604A>GCA2484301168LAMB3c.943+11T>C (n.943+11T>C)
c.751+11T>C (n.751+11T>C)
 dbSNP
1g.209630605A>TCA2580062014LAMB3c.943+10T>A (n.943+10T>A)
c.751+10T>A (n.751+10T>A)
 ClinVar
1g.209630608C>ACA2574003850LAMB3c.943+7G>T (n.943+7G>T)
c.751+7G>T (n.751+7G>T)
 gnomAD v4
1g.209630608C=CA1143578885LAMB3c.943+7G= (n.943+7G=)
c.751+7G= (n.751+7G=)
1g.209630608C>TCA36758830LAMB3c.943+7G>A (n.943+7G>A)
c.751+7G>A (n.751+7G>A)
 dbSNP
1g.209630611C>ACA2574003851LAMB3c.943+4G>T (n.943+4G>T)
c.751+4G>T (n.751+4G>T)
1g.209630612T>CCA528652860LAMB3c.943+3A>G (n.943+3A>G)
c.751+3A>G (n.751+3A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209630612T=CA2484301169LAMB3c.943+3A= (n.943+3A=)
c.751+3A= (n.751+3A=)
1g.209630613A=CA2484301170LAMB3c.943+2T= (n.943+2T=)
c.751+2T= (n.751+2T=)
1g.209630613A>CCA344593185LAMB3c.943+2T>G (n.943+2T>G)
c.751+2T>G (n.751+2T>G)
 ClinVar dbSNP
1g.209630613A>GCA344593188LAMB3c.943+2T>C (n.943+2T>C)
c.751+2T>C (n.751+2T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.209630613A>TCA344593191LAMB3c.943+2T>A (n.943+2T>A)
c.751+2T>A (n.751+2T>A)
 ClinVar dbSNP
1g.209630614C>ACA344593200LAMB3c.943+1G>T (n.943+1G>T)
c.751+1G>T (n.751+1G>T)
1g.209630614C=CA2484301171LAMB3c.943+1G= (n.943+1G=)
c.751+1G= (n.751+1G=)
1g.209630614C>GCA344593197LAMB3c.943+1G>C (n.943+1G>C)
c.751+1G>C (n.751+1G>C)
 ClinVar dbSNP
1g.209630614C>TCA344593194LAMB3c.943+1G>A (n.943+1G>A)
c.751+1G>A (n.751+1G>A)
 ClinVar dbSNP
1g.209630615T>ACA344593204LAMB3c.943A>T (p.Arg315Trp)
c.751A>T (p.Arg251Trp)
1g.209630615T>CCA344593206LAMB3c.943A>G (p.Arg315Gly)
c.751A>G (p.Arg251Gly)
 COSMIC
1g.209630615T>GCA10609593LAMB3c.943A>C (p.Arg315=)
c.751A>C (p.Arg251=)
 ClinVar dbSNP gnomAD v4
1g.209630615T=CA2484301172LAMB3c.943A= (p.Arg315=)
c.751A= (p.Arg251=)
1g.209630616T>ACA344593215LAMB3c.942A>T (p.Gln314His)
c.750A>T (p.Gln250His)
1g.209630616T>CCA423032414LAMB3c.942A>G (p.Gln314=)
c.750A>G (p.Gln250=)
 gnomAD v4
1g.209630616T>GCA344593217LAMB3c.942A>C (p.Gln314His)
c.750A>C (p.Gln250His)
1g.209630616T=CA2484301173LAMB3c.942A= (p.Gln314=)
c.750A= (p.Gln250=)
1g.209630616_209630617insACA1375774LAMB3c.941_942insT (p.Gln314HisfsTer15)
c.749_750insT (p.Gln250HisfsTer15)
 dbSNP ExAC
1g.209630617T>ACA344593223LAMB3c.941A>T (p.Gln314Leu)
c.749A>T (p.Gln250Leu)
1g.209630617T>CCA344593225LAMB3c.941A>G (p.Gln314Arg)
c.749A>G (p.Gln250Arg)
1g.209630617T>GCA1375775LAMB3c.941A>C (p.Gln314Pro)
c.749A>C (p.Gln250Pro)
 dbSNP ExAC
1g.209630617T=CA2484301174LAMB3c.941A= (p.Gln314=)
c.749A= (p.Gln250=)
1g.209630618G>ACA344593230LAMB3c.940C>T (p.Gln314Ter)
c.748C>T (p.Gln250Ter)
 ClinVar dbSNP gnomAD v4
1g.209630618G>CCA344593232LAMB3c.940C>G (p.Gln314Glu)
c.748C>G (p.Gln250Glu)
1g.209630618G=CA2484301175LAMB3c.940C= (p.Gln314=)
c.748C= (p.Gln250=)
1g.209630618G>TCA344593234LAMB3c.940C>A (p.Gln314Lys)
c.748C>A (p.Gln250Lys)
1g.209630619G>ACA1375776LAMB3c.939C>T (p.Cys313=)
c.747C>T (p.Cys249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630619G>CCA344593242LAMB3c.939C>G (p.Cys313Trp)
c.747C>G (p.Cys249Trp)
1g.209630619G=CA2484301176LAMB3c.939C= (p.Cys313=)
c.747C= (p.Cys249=)
1g.209630619G>TCA344593238LAMB3c.939C>A (p.Cys313Ter)
c.747C>A (p.Cys249Ter)
 ClinVar dbSNP gnomAD v4
1g.209630620C>ACA344593245LAMB3c.938G>T (p.Cys313Phe)
c.746G>T (p.Cys249Phe)
1g.209630620C>GCA344593247LAMB3c.938G>C (p.Cys313Ser)
c.746G>C (p.Cys249Ser)
1g.209630620C>TCA344593250LAMB3c.938G>A (p.Cys313Tyr)
c.746G>A (p.Cys249Tyr)
 gnomAD v4
1g.209630621A>CCA344593252LAMB3c.937T>G (p.Cys313Gly)
c.745T>G (p.Cys249Gly)
1g.209630621A>GCA344593254LAMB3c.937T>C (p.Cys313Arg)
c.745T>C (p.Cys249Arg)
1g.209630621A>TCA344593256LAMB3c.937T>A (p.Cys313Ser)
c.745T>A (p.Cys249Ser)
1g.209630622T>ACA344593260LAMB3c.936A>T (p.Glu312Asp)
c.744A>T (p.Glu248Asp)
1g.209630622T>CCA1375777LAMB3c.936A>G (p.Glu312=)
c.744A>G (p.Glu248=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630622T>GCA344593263LAMB3c.936A>C (p.Glu312Asp)
c.744A>C (p.Glu248Asp)
1g.209630622T=CA2484301177LAMB3c.936A= (p.Glu312=)
c.744A= (p.Glu248=)
1g.209630623T>ACA344593265LAMB3c.935A>T (p.Glu312Val)
c.743A>T (p.Glu248Val)
1g.209630623T>CCA344593267LAMB3c.935A>G (p.Glu312Gly)
c.743A>G (p.Glu248Gly)
1g.209630623T>GCA344593270LAMB3c.935A>C (p.Glu312Ala)
c.743A>C (p.Glu248Ala)
1g.209630624C>ACA344593277LAMB3c.934G>T (p.Glu312Ter)
c.742G>T (p.Glu248Ter)
1g.209630624C>GCA344593279LAMB3c.934G>C (p.Glu312Gln)
c.742G>C (p.Glu248Gln)
1g.209630624C>TCA344593274LAMB3c.934G>A (p.Glu312Lys)
c.742G>A (p.Glu248Lys)
1g.209630625A=CA2484301178LAMB3c.933T= (p.His311=)
c.741T= (p.His247=)
1g.209630625A>CCA344593281LAMB3c.933T>G (p.His311Gln)
c.741T>G (p.His247Gln)
1g.209630625A>GCA423032416LAMB3c.933T>C (p.His311=)
c.741T>C (p.His247=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209630625A>TCA344593283LAMB3c.933T>A (p.His311Gln)
c.741T>A (p.His247Gln)
1g.209630626T>ACA344593286LAMB3c.932A>T (p.His311Leu)
c.740A>T (p.His247Leu)
1g.209630626T>CCA344593289LAMB3c.932A>G (p.His311Arg)
c.740A>G (p.His247Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.209630626T>GCA344593290LAMB3c.932A>C (p.His311Pro)
c.740A>C (p.His247Pro)
1g.209630626T=CA2484301179LAMB3c.932A= (p.His311=)
c.740A= (p.His247=)
1g.209630627G>ACA344593298LAMB3c.931C>T (p.His311Tyr)
c.739C>T (p.His247Tyr)
1g.209630627G>CCA344593294LAMB3c.931C>G (p.His311Asp)
c.739C>G (p.His247Asp)
1g.209630627G>TCA344593296LAMB3c.931C>A (p.His311Asn)
c.739C>A (p.His247Asn)
1g.209630628G>ACA423032417LAMB3c.930C>T (p.Ala310=)
c.738C>T (p.Ala246=)
1g.209630628G>CCA423032418LAMB3c.930C>G (p.Ala310=)
c.738C>G (p.Ala246=)
1g.209630628G>TCA423032419LAMB3c.930C>A (p.Ala310=)
c.738C>A (p.Ala246=)
1g.209630629G>ACA1375778LAMB3c.929C>T (p.Ala310Val)
c.737C>T (p.Ala246Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630629G>CCA344593304LAMB3c.929C>G (p.Ala310Gly)
c.737C>G (p.Ala246Gly)
1g.209630629G=CA1143372629LAMB3c.929C= (p.Ala310=)
c.737C= (p.Ala246=)
1g.209630629G>TCA344593306LAMB3c.929C>A (p.Ala310Asp)
c.737C>A (p.Ala246Asp)
1g.209630630C>ACA344593308LAMB3c.928G>T (p.Ala310Ser)
c.736G>T (p.Ala246Ser)
 dbSNP
1g.209630630C=CA1141729199LAMB3c.928G= (p.Ala310=)
c.736G= (p.Ala246=)
1g.209630630C>GCA344593311LAMB3c.928G>C (p.Ala310Pro)
c.736G>C (p.Ala246Pro)
1g.209630630C>TCA1375779LAMB3c.928G>A (p.Ala310Thr)
c.736G>A (p.Ala246Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630631G>ACA1375780LAMB3c.927C>T (p.Asp309=)
c.735C>T (p.Asp245=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630631G>CCA344593318LAMB3c.927C>G (p.Asp309Glu)
c.735C>G (p.Asp245Glu)
1g.209630631G=CA1141781904LAMB3c.927C= (p.Asp309=)
c.735C= (p.Asp245=)
1g.209630631G>TCA1375781LAMB3c.927C>A (p.Asp309Glu)
c.735C>A (p.Asp245Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630632T>ACA344593322LAMB3c.926A>T (p.Asp309Val)
c.734A>T (p.Asp245Val)
1g.209630632T>CCA344593326LAMB3c.926A>G (p.Asp309Gly)
c.734A>G (p.Asp245Gly)
 gnomAD v4
1g.209630632T>GCA344593324LAMB3c.926A>C (p.Asp309Ala)
c.734A>C (p.Asp245Ala)
1g.209630633C>ACA344593330LAMB3c.925G>T (p.Asp309Tyr)
c.733G>T (p.Asp245Tyr)
1g.209630633C>GCA344593335LAMB3c.925G>C (p.Asp309His)
c.733G>C (p.Asp245His)
1g.209630633C>TCA344593332LAMB3c.925G>A (p.Asp309Asn)
c.733G>A (p.Asp245Asn)
1g.209630634C>ACA344593338LAMB3c.924G>T (p.Gln308His)
c.732G>T (p.Gln244His)
1g.209630634C=CA2484301180LAMB3c.924G= (p.Gln308=)
c.732G= (p.Gln244=)
1g.209630634C>GCA344593340LAMB3c.924G>C (p.Gln308His)
c.732G>C (p.Gln244His)
 dbSNP gnomAD v3 gnomAD v4
1g.209630634C>TCA423032420LAMB3c.924G>A (p.Gln308=)
c.732G>A (p.Gln244=)
 gnomAD v4
1g.209630635T>ACA344593344LAMB3c.923A>T (p.Gln308Leu)
c.731A>T (p.Gln244Leu)
1g.209630635T>CCA344593347LAMB3c.923A>G (p.Gln308Arg)
c.731A>G (p.Gln244Arg)
1g.209630635T>GCA344593346LAMB3c.923A>C (p.Gln308Pro)
c.731A>C (p.Gln244Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.209630635T=CA2484301181LAMB3c.923A= (p.Gln308=)
c.731A= (p.Gln244=)
1g.209630636G>ACA36758854LAMB3c.922C>T (p.Gln308Ter)
c.730C>T (p.Gln244Ter)
 dbSNP gnomAD v4
1g.209630636G>CCA344593350LAMB3c.922C>G (p.Gln308Glu)
c.730C>G (p.Gln244Glu)
1g.209630636G=CA2484301182LAMB3c.922C= (p.Gln308=)
c.730C= (p.Gln244=)
1g.209630636G>TCA1375782LAMB3c.922C>A (p.Gln308Lys)
c.730C>A (p.Gln244Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630637G>ACA423032421LAMB3c.921C>T (p.Gly307=)
c.729C>T (p.Gly243=)
1g.209630637G>CCA423032422LAMB3c.921C>G (p.Gly307=)
c.729C>G (p.Gly243=)
1g.209630637G>TCA423032423LAMB3c.921C>A (p.Gly307=)
c.729C>A (p.Gly243=)
1g.209630637_209630638delinsGCCA2484301183LAMB3c.920_921delinsGC (p.Gly307=)
c.728_729delinsGC (p.Gly243=)
1g.209630638C>ACA1375784LAMB3c.920G>T (p.Gly307Val)
c.728G>T (p.Gly243Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630638C=CA2484301184LAMB3c.920G= (p.Gly307=)
c.728G= (p.Gly243=)
1g.209630638C>GCA344593358LAMB3c.920G>C (p.Gly307Ala)
c.728G>C (p.Gly243Ala)
1g.209630638C>TCA1375783LAMB3c.920G>A (p.Gly307Asp)
c.728G>A (p.Gly243Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209630640delCA16040699LAMB3c.920del (p.Gly307AlafsTer?)
c.728del (p.Gly243AlafsTer?)
 ClinVar dbSNP
1g.209630639C>ACA344593370LAMB3c.919G>T (p.Gly307Cys)
c.727G>T (p.Gly243Cys)
1g.209630639C>GCA344593366LAMB3c.919G>C (p.Gly307Arg)
c.727G>C (p.Gly243Arg)
1g.209630639C>TCA344593368LAMB3c.919G>A (p.Gly307Ser)
c.727G>A (p.Gly243Ser)
1g.209630640C>ACA344593373LAMB3c.918G>T (p.Glu306Asp)
c.726G>T (p.Glu242Asp)
 gnomAD v4
1g.209630640C=CA2484301185LAMB3c.918G= (p.Glu306=)
c.726G= (p.Glu242=)
1g.209630640C>GCA344593376LAMB3c.918G>C (p.Glu306Asp)
c.726G>C (p.Glu242Asp)
 dbSNP
1g.209630640C>TCA36758865LAMB3c.918G>A (p.Glu306=)
c.726G>A (p.Glu242=)
 dbSNP gnomAD v3 gnomAD v4
1g.209630641T>ACA344593378LAMB3c.917A>T (p.Glu306Val)
c.725A>T (p.Glu242Val)
1g.209630641T>CCA344593380LAMB3c.917A>G (p.Glu306Gly)
c.725A>G (p.Glu242Gly)
1g.209630641T>GCA344593385LAMB3c.917A>C (p.Glu306Ala)
c.725A>C (p.Glu242Ala)
1g.209630642C>ACA344593389LAMB3c.916G>T (p.Glu306Ter)
c.724G>T (p.Glu242Ter)
1g.209630642C>GCA344593393LAMB3c.916G>C (p.Glu306Gln)
c.724G>C (p.Glu242Gln)
1g.209630642C>TCA344593391LAMB3c.916G>A (p.Glu306Lys)
c.724G>A (p.Glu242Lys)
 COSMIC
1g.209630643C>ACA423032424LAMB3c.915G>T (p.Ala305=)
c.723G>T (p.Ala241=)
1g.209630643C=CA2484301186LAMB3c.915G= (p.Ala305=)
c.723G= (p.Ala241=)
1g.209630643C>GCA423032425LAMB3c.915G>C (p.Ala305=)
c.723G>C (p.Ala241=)
1g.209630643C>TCA1375785LAMB3c.915G>A (p.Ala305=)
c.723G>A (p.Ala241=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630644G>ACA1375786LAMB3c.914C>T (p.Ala305Val)
c.722C>T (p.Ala241Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630644G>CCA344593400LAMB3c.914C>G (p.Ala305Gly)
c.722C>G (p.Ala241Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.209630644G=CA2484301187LAMB3c.914C= (p.Ala305=)
c.722C= (p.Ala241=)
1g.209630644G>TCA344593403LAMB3c.914C>A (p.Ala305Glu)
c.722C>A (p.Ala241Glu)
1g.209630645C>ACA344593406LAMB3c.913G>T (p.Ala305Ser)
c.721G>T (p.Ala241Ser)
1g.209630645C>GCA344593409LAMB3c.913G>C (p.Ala305Pro)
c.721G>C (p.Ala241Pro)
1g.209630645C>TCA344593411LAMB3c.913G>A (p.Ala305Thr)
c.721G>A (p.Ala241Thr)
1g.209630646C>ACA423032426LAMB3c.912G>T (p.Pro304=)
c.720G>T (p.Pro240=)
 ClinVar dbSNP gnomAD v4
1g.209630646C=CA1143832051LAMB3c.912G= (p.Pro304=)
c.720G= (p.Pro240=)
1g.209630646C>GCA423032427LAMB3c.912G>C (p.Pro304=)
c.720G>C (p.Pro240=)
 gnomAD v4
1g.209630646C>TCA1375787LAMB3c.912G>A (p.Pro304=)
c.720G>A (p.Pro240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209630647G>ACA1375788LAMB3c.911C>T (p.Pro304Leu)
c.719C>T (p.Pro240Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209630647G>CCA344593417LAMB3c.911C>G (p.Pro304Arg)
c.719C>G (p.Pro240Arg)
1g.209630647G=CA1141399481LAMB3c.911C= (p.Pro304=)
c.719C= (p.Pro240=)
1g.209630647G>TCA344593420LAMB3c.911C>A (p.Pro304Gln)
c.719C>A (p.Pro240Gln)
 gnomAD v4
1g.209630648G>ACA1375789LAMB3c.910C>T (p.Pro304Ser)
c.718C>T (p.Pro240Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209630648G>CCA344593425LAMB3c.910C>G (p.Pro304Ala)
c.718C>G (p.Pro240Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.209630648G=CA2484301188LAMB3c.910C= (p.Pro304=)
c.718C= (p.Pro240=)
1g.209630648G>TCA344593422LAMB3c.910C>A (p.Pro304Thr)
c.718C>A (p.Pro240Thr)
1g.209630649T>ACA344593428LAMB3c.909A>T (p.Arg303Ser)
c.717A>T (p.Arg239Ser)
1g.209630649T>CCA423032428LAMB3c.909A>G (p.Arg303=)
c.717A>G (p.Arg239=)
1g.209630649T>GCA344593431LAMB3c.909A>C (p.Arg303Ser)
c.717A>C (p.Arg239Ser)
1g.209630650C>ACA344593433LAMB3c.908G>T (p.Arg303Ile)
c.716G>T (p.Arg239Ile)
1g.209630650C>GCA344593435LAMB3c.908G>C (p.Arg303Thr)
c.716G>C (p.Arg239Thr)
1g.209630650C>TCA344593436LAMB3c.908G>A (p.Arg303Lys)
c.716G>A (p.Arg239Lys)
1g.209630651T>ACA344593439LAMB3c.907A>T (p.Arg303Ter)
c.715A>T (p.Arg239Ter)
1g.209630651T>CCA344593441LAMB3c.907A>G (p.Arg303Gly)
c.715A>G (p.Arg239Gly)
 gnomAD v4
1g.209630651T>GCA423032429LAMB3c.907A>C (p.Arg303=)
c.715A>C (p.Arg239=)
 gnomAD v4
1g.209630652C>ACA344593444LAMB3c.906G>T (p.Trp302Cys)
c.714G>T (p.Trp238Cys)
1g.209630652C>GCA344593446LAMB3c.906G>C (p.Trp302Cys)
c.714G>C (p.Trp238Cys)
1g.209630652C>TCA344593449LAMB3c.906G>A (p.Trp302Ter)
c.714G>A (p.Trp238Ter)
 ClinVar
1g.209630653C>ACA344593452LAMB3c.905G>T (p.Trp302Leu)
c.713G>T (p.Trp238Leu)
1g.209630653C>GCA344593454LAMB3c.905G>C (p.Trp302Ser)
c.713G>C (p.Trp238Ser)
1g.209630653C>TCA344593457LAMB3c.905G>A (p.Trp302Ter)
c.713G>A (p.Trp238Ter)
1g.209630653_209630654delinsCACA2484301189LAMB3c.904_905delinsTG (p.Trp302=)
c.712_713delinsTG (p.Trp238=)
1g.209630654delCA257274LAMB3c.904del (p.Trp302GlyfsTer?)
c.712del (p.Trp238GlyfsTer?)
 ClinVar dbSNP gnomAD v4
1g.209630654A=CA2484301190LAMB3c.904T= (p.Trp302=)
c.712T= (p.Trp238=)
1g.209630654A>CCA344593463LAMB3c.904T>G (p.Trp302Gly)
c.712T>G (p.Trp238Gly)
1g.209630654A>GCA344593472LAMB3c.904T>C (p.Trp302Arg)
c.712T>C (p.Trp238Arg)
1g.209630654A>TCA344593468LAMB3c.904T>A (p.Trp302Arg)
c.712T>A (p.Trp238Arg)
1g.209630655G>ACA423032430LAMB3c.903C>T (p.Pro301=)
c.711C>T (p.Pro237=)
 ClinVar
1g.209630655G>CCA423032431LAMB3c.903C>G (p.Pro301=)
c.711C>G (p.Pro237=)
1g.209630655G=CA2484301191LAMB3c.903C= (p.Pro301=)
c.711C= (p.Pro237=)
1g.209630655G>TCA423032432LAMB3c.903C>A (p.Pro301=)
c.711C>A (p.Pro237=)
 dbSNP gnomAD v3 gnomAD v4
1g.209630657dupCA528652861LAMB3c.903dup (p.Trp302LeufsTer11)
c.711dup (p.Trp238LeufsTer11)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209630656G>ACA36758881LAMB3c.902C>T (p.Pro301Leu)
c.710C>T (p.Pro237Leu)
 dbSNP gnomAD v4
1g.209630656G>CCA344593476LAMB3c.902C>G (p.Pro301Arg)
c.710C>G (p.Pro237Arg)
1g.209630656G=CA1148092501LAMB3c.902C= (p.Pro301=)
c.710C= (p.Pro237=)
1g.209630656G>TCA344593478LAMB3c.902C>A (p.Pro301His)
c.710C>A (p.Pro237His)
1g.209630657G>ACA344593482LAMB3c.901C>T (p.Pro301Ser)
c.709C>T (p.Pro237Ser)
1g.209630657G>CCA344593484LAMB3c.901C>G (p.Pro301Ala)
c.709C>G (p.Pro237Ala)
1g.209630657G>TCA344593487LAMB3c.901C>A (p.Pro301Thr)
c.709C>A (p.Pro237Thr)

Number of alleles fetched