Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209623965_209623966delinsAGCA2484298451LAMB3c.2011_2012delinsCT (p.Leu671=)
c.1819_1820delinsCT (p.Leu607=)
1g.209623966G>ACA423142491LAMB3c.2011C>T (p.Leu671=)
c.1819C>T (p.Leu607=)
gnomAD v4
1g.209623966G>CCA344588932LAMB3c.2011C>G (p.Leu671Val)
c.1819C>G (p.Leu607Val)
1g.209623966G>TCA344588933LAMB3c.2011C>A (p.Leu671Met)
c.1819C>A (p.Leu607Met)
1g.209623969delCA16040693LAMB3c.2011del (p.Leu671TrpfsTer?)
c.1819del (p.Leu607TrpfsTer?)
ClinVar dbSNP
1g.209623967G>ACA423142494LAMB3c.2010C>T (p.Pro670=)
c.1818C>T (p.Pro606=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.209623967G>CCA423142492LAMB3c.2010C>G (p.Pro670=)
c.1818C>G (p.Pro606=)
1g.209623967G=CA2484298453LAMB3c.2010C= (p.Pro670=)
c.1818C= (p.Pro606=)
1g.209623967G>TCA423142493LAMB3c.2010C>A (p.Pro670=)
c.1818C>A (p.Pro606=)
1g.209623968G>ACA344588934LAMB3c.2009C>T (p.Pro670Leu)
c.1817C>T (p.Pro606Leu)
1g.209623968G>CCA344588935LAMB3c.2009C>G (p.Pro670Arg)
c.1817C>G (p.Pro606Arg)
1g.209623968G>TCA344588936LAMB3c.2009C>A (p.Pro670His)
c.1817C>A (p.Pro606His)
1g.209623969G>ACA344588937LAMB3c.2008C>T (p.Pro670Ser)
c.1816C>T (p.Pro606Ser)
1g.209623969G>CCA344588938LAMB3c.2008C>G (p.Pro670Ala)
c.1816C>G (p.Pro606Ala)
1g.209623969G=CA2484298454LAMB3c.2008C= (p.Pro670=)
c.1816C= (p.Pro606=)
1g.209623969G>TCA344588939LAMB3c.2008C>A (p.Pro670Thr)
c.1816C>A (p.Pro606Thr)
dbSNP gnomAD v3 gnomAD v4
1g.209623970C>ACA423142503LAMB3c.2007G>T (p.Leu669=)
c.1815G>T (p.Leu605=)
1g.209623970C=CA2484298455LAMB3c.2007G= (p.Leu669=)
c.1815G= (p.Leu605=)
1g.209623970C>GCA423142504LAMB3c.2007G>C (p.Leu669=)
c.1815G>C (p.Leu605=)
1g.209623970C>TCA423142505LAMB3c.2007G>A (p.Leu669=)
c.1815G>A (p.Leu605=)
dbSNP gnomAD v4
1g.209623971A=CA1139989112LAMB3c.2006T= (p.Leu669=)
c.1814T= (p.Leu605=)
1g.209623971A>CCA344588940LAMB3c.2006T>G (p.Leu669Arg)
c.1814T>G (p.Leu605Arg)
1g.209623971A>GCA344588941LAMB3c.2006T>C (p.Leu669Pro)
c.1814T>C (p.Leu605Pro)
1g.209623971A>TCA36752917LAMB3c.2006T>A (p.Leu669Gln)
c.1814T>A (p.Leu605Gln)
dbSNP
1g.209623972G>ACA423142509LAMB3c.2005C>T (p.Leu669=)
c.1813C>T (p.Leu605=)
ClinVar dbSNP gnomAD v4
1g.209623972G>CCA344588943LAMB3c.2005C>G (p.Leu669Val)
c.1813C>G (p.Leu605Val)
1g.209623972G=CA2484298456LAMB3c.2005C= (p.Leu669=)
c.1813C= (p.Leu605=)
1g.209623972G>TCA344588942LAMB3c.2005C>A (p.Leu669Met)
c.1813C>A (p.Leu605Met)
1g.209623973A>CCA344588944LAMB3c.2004T>G (p.Asp668Glu)
c.1812T>G (p.Asp604Glu)
1g.209623973A>GCA423142512LAMB3c.2004T>C (p.Asp668=)
c.1812T>C (p.Asp604=)
1g.209623973A>TCA344588945LAMB3c.2004T>A (p.Asp668Glu)
c.1812T>A (p.Asp604Glu)
1g.209623974T>ACA344588946LAMB3c.2003A>T (p.Asp668Val)
c.1811A>T (p.Asp604Val)
1g.209623974T>CCA344588947LAMB3c.2003A>G (p.Asp668Gly)
c.1811A>G (p.Asp604Gly)
1g.209623974T>GCA344588948LAMB3c.2003A>C (p.Asp668Ala)
c.1811A>C (p.Asp604Ala)
1g.209623975C>ACA344588949LAMB3c.2002G>T (p.Asp668Tyr)
c.1810G>T (p.Asp604Tyr)
1g.209623975C=CA2484298457LAMB3c.2002G= (p.Asp668=)
c.1810G= (p.Asp604=)
1g.209623975C>GCA344588950LAMB3c.2002G>C (p.Asp668His)
c.1810G>C (p.Asp604His)
1g.209623975C>TCA344588951LAMB3c.2002G>A (p.Asp668Asn)
c.1810G>A (p.Asp604Asn)
dbSNP gnomAD v4
1g.209623976C>ACA423142518LAMB3c.2001G>T (p.Leu667=)
c.1809G>T (p.Leu603=)
dbSNP gnomAD v2 gnomAD v4
1g.209623976C=CA2484298458LAMB3c.2001G= (p.Leu667=)
c.1809G= (p.Leu603=)
1g.209623976C>GCA423142520LAMB3c.2001G>C (p.Leu667=)
c.1809G>C (p.Leu603=)
1g.209623976C>TCA423142521LAMB3c.2001G>A (p.Leu667=)
c.1809G>A (p.Leu603=)
gnomAD v4
1g.209623977A>CCA344588952LAMB3c.2000T>G (p.Leu667Arg)
c.1808T>G (p.Leu603Arg)
1g.209623977A>GCA344588953LAMB3c.2000T>C (p.Leu667Pro)
c.1808T>C (p.Leu603Pro)
1g.209623977A>TCA344588954LAMB3c.2000T>A (p.Leu667Gln)
c.1808T>A (p.Leu603Gln)
1g.209623978G>ACA423142526LAMB3c.1999C>T (p.Leu667=)
c.1807C>T (p.Leu603=)
1g.209623978G>CCA344588955LAMB3c.1999C>G (p.Leu667Val)
c.1807C>G (p.Leu603Val)
1g.209623978G>TCA344588956LAMB3c.1999C>A (p.Leu667Met)
c.1807C>A (p.Leu603Met)
1g.209623979C>ACA344588957LAMB3c.1998G>T (p.Gln666His)
c.1806G>T (p.Gln602His)
1g.209623979C>GCA344588958LAMB3c.1998G>C (p.Gln666His)
c.1806G>C (p.Gln602His)

Number of alleles fetched