Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.49130833T>ACA352745653LAMB2c.943A>T (p.Asn315Tyr)
3g.49130833T>CCA352745661LAMB2c.943A>G (p.Asn315Asp)
3g.49130833T>GCA352745662LAMB2c.943A>C (p.Asn315His)
3g.49130834G>ACA433636256LAMB2c.942C>T (p.His314=)
gnomAD v4
3g.49130834G>CCA352745667LAMB2c.942C>G (p.His314Gln)
3g.49130834G>TCA352745669LAMB2c.942C>A (p.His314Gln)
3g.49130835T>ACA352745684LAMB2c.941A>T (p.His314Leu)
3g.49130835T>CCA74488134LAMB2c.941A>G (p.His314Arg)
dbSNP
3g.49130835T>GCA352745677LAMB2c.941A>C (p.His314Pro)
3g.49130835T=CA1363342704LAMB2c.941A= (p.His314=)
3g.49130836G>ACA352745694LAMB2c.940C>T (p.His314Tyr)
3g.49130836G>CCA352745699LAMB2c.940C>G (p.His314Asp)
3g.49130836G>TCA352745710LAMB2c.940C>A (p.His314Asn)
3g.49130837T>ACA352745712LAMB2c.939A>T (p.Lys313Asn)
3g.49130837T>CCA433636257LAMB2c.939A>G (p.Lys313=)
gnomAD v4
3g.49130837T>GCA352745713LAMB2c.939A>C (p.Lys313Asn)
3g.49130838T>ACA352745714LAMB2c.938A>T (p.Lys313Ile)
3g.49130838T>CCA2394747LAMB2c.938A>G (p.Lys313Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.49130838T>GCA352745732LAMB2c.938A>C (p.Lys313Thr)
3g.49130838T=CA1363342705LAMB2c.938A= (p.Lys313=)
3g.49130839T>ACA352745734LAMB2c.937A>T (p.Lys313Ter)
3g.49130839T>CCA352745735LAMB2c.937A>G (p.Lys313Glu)
dbSNP gnomAD v2
3g.49130839T>GCA352745737LAMB2c.937A>C (p.Lys313Gln)
3g.49130839T=CA1363342706LAMB2c.937A= (p.Lys313=)
3g.49130840G>ACA433636258LAMB2c.936C>T (p.Cys312=)
gnomAD v4
3g.49130840G>CCA352745741LAMB2c.936C>G (p.Cys312Trp)
3g.49130840G>TCA352745746LAMB2c.936C>A (p.Cys312Ter)
3g.49130841C>ACA352745772LAMB2c.935G>T (p.Cys312Phe)
gnomAD v4
3g.49130841C>GCA352745752LAMB2c.935G>C (p.Cys312Ser)
3g.49130841C>TCA352745771LAMB2c.935G>A (p.Cys312Tyr)
3g.49130842A=CA1363342707LAMB2c.934T= (p.Cys312=)
3g.49130842A>CCA352745773LAMB2c.934T>G (p.Cys312Gly)
3g.49130842A>GCA16604628LAMB2c.934T>C (p.Cys312Arg)
ClinVar dbSNP
3g.49130842A>TCA352745774LAMB2c.934T>A (p.Cys312Ser)
3g.49130843G>ACA433636259LAMB2c.933C>T (p.Ile311=)
3g.49130843G>CCA352745775LAMB2c.933C>G (p.Ile311Met)
gnomAD v4
3g.49130843G>TCA433636260LAMB2c.933C>A (p.Ile311=)
3g.49130844A>CCA352745779LAMB2c.932T>G (p.Ile311Ser)
3g.49130844A>GCA352745781LAMB2c.932T>C (p.Ile311Thr)
3g.49130844A>TCA352745785LAMB2c.932T>A (p.Ile311Asn)
3g.49130845T>ACA352745788LAMB2c.931A>T (p.Ile311Phe)
3g.49130845T>CCA352745789LAMB2c.931A>G (p.Ile311Val)
COSMIC
3g.49130845T>GCA74488162LAMB2c.931A>C (p.Ile311Leu)
dbSNP
3g.49130845T=CA1363342708LAMB2c.931A= (p.Ile311=)
3g.49130846G>ACA433636261LAMB2c.930C>T (p.Cys310=)
dbSNP
3g.49130846G>CCA352745792LAMB2c.930C>G (p.Cys310Trp)
3g.49130846G=CA1363342709LAMB2c.930C= (p.Cys310=)
3g.49130846G>TCA352745793LAMB2c.930C>A (p.Cys310Ter)
3g.49130847C>ACA352745796LAMB2c.929G>T (p.Cys310Phe)
3g.49130847C=CA1363342710LAMB2c.929G= (p.Cys310=)
3g.49130847C>GCA352745799LAMB2c.929G>C (p.Cys310Ser)
3g.49130847C>TCA352745798LAMB2c.929G>A (p.Cys310Tyr)
dbSNP
3g.49130848A>CCA352745805LAMB2c.928T>G (p.Cys310Gly)
3g.49130848A>GCA352745807LAMB2c.928T>C (p.Cys310Arg)
gnomAD v4
3g.49130848A>TCA352745806LAMB2c.928T>A (p.Cys310Ser)
3g.49130849A>CCA433636262LAMB2c.927T>G (p.Ala309=)
3g.49130849A>GCA433636263LAMB2c.927T>C (p.Ala309=)
3g.49130849A>TCA433636264LAMB2c.927T>A (p.Ala309=)
3g.49130850G>ACA352745808LAMB2c.926C>T (p.Ala309Val)
3g.49130850G>CCA352745809LAMB2c.926C>G (p.Ala309Gly)
3g.49130850G>TCA352745812LAMB2c.926C>A (p.Ala309Asp)
3g.49130851C>ACA352745817LAMB2c.925G>T (p.Ala309Ser)
3g.49130851C>GCA352745819LAMB2c.925G>C (p.Ala309Pro)
3g.49130851C>TCA352745823LAMB2c.925G>A (p.Ala309Thr)
3g.49130852T>ACA433636265LAMB2c.924A>T (p.Gly308=)
3g.49130852T>CCA433636266LAMB2c.924A>G (p.Gly308=)
3g.49130852T>GCA433636267LAMB2c.924A>C (p.Gly308=)
3g.49130853C>ACA352745852LAMB2c.923G>T (p.Gly308Val)
3g.49130853C>GCA352745855LAMB2c.923G>C (p.Gly308Ala)
3g.49130853C>TCA352745862LAMB2c.923G>A (p.Gly308Glu)
COSMIC
3g.49130854C>ACA352745866LAMB2c.922G>T (p.Gly308Ter)
3g.49130854C=CA1363342711LAMB2c.922G= (p.Gly308=)
3g.49130854C>GCA352745875LAMB2c.922G>C (p.Gly308Arg)
3g.49130854C>TCA2394748LAMB2c.922G>A (p.Gly308Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.49130855G>ACA2394749LAMB2c.921C>T (p.His307=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.49130855G>CCA2394750LAMB2c.921C>G (p.His307Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.49130855G=CA1363342712LAMB2c.921C= (p.His307=)
3g.49130855G>TCA352745888LAMB2c.921C>A (p.His307Gln)
3g.49130856T>ACA352745896LAMB2c.920A>T (p.His307Leu)
3g.49130856T>CCA352745912LAMB2c.920A>G (p.His307Arg)
dbSNP gnomAD v3 gnomAD v4
3g.49130856T>GCA352745917LAMB2c.920A>C (p.His307Pro)
3g.49130856T=CA1363342713LAMB2c.920A= (p.His307=)
3g.49130857G>ACA352745918LAMB2c.919C>T (p.His307Tyr)
gnomAD v4
3g.49130857G>CCA352745919LAMB2c.919C>G (p.His307Asp)
3g.49130857G>TCA352745920LAMB2c.919C>A (p.His307Asn)
3g.49130858C>ACA2394751LAMB2c.918G>T (p.Val306=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.49130858C=CA1363342714LAMB2c.918G= (p.Val306=)
3g.49130858C>GCA433636268LAMB2c.918G>C (p.Val306=)
3g.49130858C>TCA433636269LAMB2c.918G>A (p.Val306=)
gnomAD v4
3g.49130859A>CCA352745928LAMB2c.917T>G (p.Val306Gly)
3g.49130859A>GCA352745930LAMB2c.917T>C (p.Val306Ala)
3g.49130859A>TCA352745933LAMB2c.917T>A (p.Val306Glu)
3g.49130860C>ACA352745948LAMB2c.916G>T (p.Val306Leu)
3g.49130860C>GCA352745942LAMB2c.916G>C (p.Val306Leu)
3g.49130860C>TCA352745937LAMB2c.916G>A (p.Val306Met)
3g.49130861C>ACA352745952LAMB2c.916-1G>T (n.916-1G>T)
3g.49130861C>GCA352745953LAMB2c.916-1G>C (n.916-1G>C)
3g.49130861C>TCA352745954LAMB2c.916-1G>A (n.916-1G>A)
3g.49130861_49130866delinsCTATAGCA1363342715LAMB2c.916-6_916-1delinsCTATAG (n.916-6_916-1delinsCTATAG)
3g.49130862T>ACA352745959LAMB2c.916-2A>T (n.916-2A>T)
3g.49130862T>CCA352745966LAMB2c.916-2A>G (n.916-2A>G)
gnomAD v4
3g.49130862T>GCA352745969LAMB2c.916-2A>C (n.916-2A>C)
3g.49130862_49130866delCA2394752LAMB2c.916-6_916-2del (n.916-6_916-2del)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.49130863A>GCA2665699230LAMB2c.916-3T>C (n.916-3T>C)
gnomAD v4
3g.49130864T>CCA10616343LAMB2c.916-4A>G (n.916-4A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.49130864T=CA1363342716LAMB2c.916-4A= (n.916-4A=)
3g.49130865A=CA1363342717LAMB2c.916-5T= (n.916-5T=)
3g.49130865A>GCA74488204LAMB2c.916-5T>C (n.916-5T>C)
dbSNP gnomAD v4
3g.49130867_49130868dupCA2580616458LAMB2c.916-6_916-5dup (n.916-6_916-5dup)
ClinVar
3g.49130866G>ACA543048892LAMB2c.916-6C>T (n.916-6C>T)
dbSNP gnomAD v2 gnomAD v4
3g.49130866G>CCA74488228LAMB2c.916-6C>G (n.916-6C>G)
dbSNP
3g.49130866G=CA1363342718LAMB2c.916-6C= (n.916-6C=)
3g.49130867A=CA1363342719LAMB2c.916-7T= (n.916-7T=)
3g.49130867A>TCA907827694LAMB2c.916-7T>A (n.916-7T>A)
dbSNP
3g.49130869G>ACA2394753LAMB2c.916-9C>T (n.916-9C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.49130869G=CA1363342720LAMB2c.916-9C= (n.916-9C=)
3g.49130870T>CCA2580070001LAMB2c.916-10A>G (n.916-10A>G)
ClinVar
3g.49130871T>GCA1047738622LAMB2c.916-11A>C (n.916-11A>C)
dbSNP gnomAD v3 gnomAD v4
3g.49130871T=CA1363342721LAMB2c.916-11A= (n.916-11A=)
3g.49130874C>TCA2665699231LAMB2c.916-14G>A (n.916-14G>A)
gnomAD v4
3g.49130876G>CCA2577594475LAMB2c.916-16C>G (n.916-16C>G)
3g.49130877G>ACA543048893LAMB2c.916-17C>T (n.916-17C>T)
dbSNP gnomAD v2 gnomAD v4
3g.49130877G=CA1363342722LAMB2c.916-17C= (n.916-17C=)
3g.49130878T>CCA2702578907LAMB2c.916-18A>G (n.916-18A>G)
dbSNP
3g.49130878T>GCA1363342724LAMB2c.916-18A>C (n.916-18A>C)
dbSNP
3g.49130878T=CA1363342723LAMB2c.916-18A= (n.916-18A=)
3g.49130879A=CA1363342725LAMB2c.916-19T= (n.916-19T=)
3g.49130879A>CCA1363342726LAMB2c.916-19T>G (n.916-19T>G)
dbSNP
3g.49130879A>GCA2394754LAMB2c.916-19T>C (n.916-19T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.49130880G>ACA2665699232LAMB2c.916-20C>T (n.916-20C>T)
gnomAD v4
3g.49130881G>ACA543048894LAMB2c.916-21C>T (n.916-21C>T)
dbSNP gnomAD v2 gnomAD v4
3g.49130881G=CA1363342727LAMB2c.916-21C= (n.916-21C=)
3g.49130881G>TCA2577594476LAMB2c.916-21C>A (n.916-21C>A)
gnomAD v4
3g.49130885T>CCA2577594477LAMB2c.916-25A>G (n.916-25A>G)
3g.49130885T>GCA2665699233LAMB2c.916-25A>C (n.916-25A>C)
gnomAD v4
3g.49130887A=CA1363342728LAMB2c.916-27T= (n.916-27T=)
3g.49130887A>GCA74488251LAMB2c.916-27T>C (n.916-27T>C)
dbSNP
3g.49130890A=CA1363342729LAMB2c.916-30T= (n.916-30T=)
3g.49130890A>GCA2394755LAMB2c.916-30T>C (n.916-30T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.49130891C=CA1363342730LAMB2c.916-31G= (n.916-31G=)
3g.49130891C>TCA2394756LAMB2c.916-31G>A (n.916-31G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.49130892T>GCA2394757LAMB2c.916-32A>C (n.916-32A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.49130892T=CA1363342731LAMB2c.916-32A= (n.916-32A=)
3g.49130893G>CCA1363342732LAMB2c.916-33C>G (n.916-33C>G)
dbSNP
3g.49130893G=CA1363342733LAMB2c.916-33C= (n.916-33C=)
3g.49130894C>TCA2665699234LAMB2c.916-34G>A (n.916-34G>A)
gnomAD v4
3g.49130898_49130899delinsGCCA1363342734LAMB2c.916-39_916-38delinsGC (n.916-39_916-38delinsGC)
3g.49130899C>ACA543048674LAMB2c.916-39G>T (n.916-39G>T)
dbSNP gnomAD v2 gnomAD v4
3g.49130899C=CA1363342735LAMB2c.916-39G= (n.916-39G=)
3g.49130900delCA907827720LAMB2c.916-39del (n.916-39del)
dbSNP gnomAD v3 gnomAD v4
3g.49130900C=CA1363342736LAMB2c.916-40G= (n.916-40G=)
3g.49130900C>GCA543048675LAMB2c.916-40G>C (n.916-40G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.49130901A=CA1363342737LAMB2c.916-41T= (n.916-41T=)
3g.49130901A>GCA2394758LAMB2c.916-41T>C (n.916-41T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.49130902T>CCA2665699235LAMB2c.916-42A>G (n.916-42A>G)
gnomAD v4
3g.49130905C>ACA2756174317LAMB2c.916-45G>T (n.916-45G>T)
3g.49130905C=CA1363342738LAMB2c.916-45G= (n.916-45G=)
3g.49130905C>GCA74488264LAMB2c.916-45G>C (n.916-45G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.49130906C=CA1363342739LAMB2c.915+44G= (n.915+44G=)
3g.49130906C>TCA543048676LAMB2c.915+44G>A (n.915+44G>A)
dbSNP gnomAD v2 gnomAD v4
3g.49130907G>ACA2394759LAMB2c.915+43C>T (n.915+43C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.49130907G=CA1363342740LAMB2c.915+43C= (n.915+43C=)
3g.49130907G>TCA74488265LAMB2c.915+43C>A (n.915+43C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.49130908C=CA1363342741LAMB2c.915+42G= (n.915+42G=)
3g.49130908C>TCA2394760LAMB2c.915+42G>A (n.915+42G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.49130910C>TCA2577594478LAMB2c.915+40G>A (n.915+40G>A)
3g.49130911C>ACA647881866LAMB2c.915+39G>T (n.915+39G>T)
COSMIC
3g.49130914C>ACA74488280LAMB2c.915+36G>T (n.915+36G>T)
dbSNP gnomAD v4
3g.49130914C=CA1363342742LAMB2c.915+36G= (n.915+36G=)
3g.49130914C>TCA543048677LAMB2c.915+36G>A (n.915+36G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.49130915C=CA1363342743LAMB2c.915+35G= (n.915+35G=)
3g.49130915C>TCA74488286LAMB2c.915+35G>A (n.915+35G>A)
dbSNP
3g.49130916C>ACA2756174318LAMB2c.915+34G>T (n.915+34G>T)
3g.49130916C=CA1363342744LAMB2c.915+34G= (n.915+34G=)
3g.49130916C>TCA543048678LAMB2c.915+34G>A (n.915+34G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.49130917C=CA1363342745LAMB2c.915+33G= (n.915+33G=)
3g.49130917C>TCA543048679LAMB2c.915+33G>A (n.915+33G>A)
dbSNP gnomAD v2 gnomAD v4
3g.49130917_49130918delinsCTCA1363342746LAMB2c.915+32_915+33delinsAG (n.915+32_915+33delinsAG)
3g.49130918delCA543048680LAMB2c.915+32del (n.915+32del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.49130919A=CA1363342747LAMB2c.915+31T= (n.915+31T=)
3g.49130919A>CCA543048681LAMB2c.915+31T>G (n.915+31T>G)
dbSNP gnomAD v2 gnomAD v4
3g.49130920G=CA1363342748LAMB2c.915+30C= (n.915+30C=)
3g.49130920G>TCA1363342749LAMB2c.915+30C>A (n.915+30C>A)
dbSNP
3g.49130921C>ACA543048682LAMB2c.915+29G>T (n.915+29G>T)
dbSNP gnomAD v2 gnomAD v4
3g.49130921C=CA1363342750LAMB2c.915+29G= (n.915+29G=)
3g.49130921C>TCA543048683LAMB2c.915+29G>A (n.915+29G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.49130923C=CA1363342751LAMB2c.915+27G= (n.915+27G=)
3g.49130923C>GCA2756174319LAMB2c.915+27G>C (n.915+27G>C)
3g.49130923C>TCA543048684LAMB2c.915+27G>A (n.915+27G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.49130924T>CCA1047738633LAMB2c.915+26A>G (n.915+26A>G)
dbSNP gnomAD v3 gnomAD v4
3g.49130924T>GCA2394761LAMB2c.915+26A>C (n.915+26A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.49130924T=CA1363342752LAMB2c.915+26A= (n.915+26A=)
3g.49130925A=CA1363342753LAMB2c.915+25T= (n.915+25T=)
3g.49130925A>GCA1047738634LAMB2c.915+25T>C (n.915+25T>C)
dbSNP gnomAD v3 gnomAD v4
3g.49130929delCA2665699242LAMB2c.915+23del (n.915+23del)
gnomAD v4
3g.49130929C=CA1363342754LAMB2c.915+21G= (n.915+21G=)
3g.49130929C>TCA2394762LAMB2c.915+21G>A (n.915+21G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.49130932C>ACA647881869LAMB2c.915+18G>T (n.915+18G>T)
gnomAD v4 COSMIC
3g.49130933C>ACA2665699245LAMB2c.915+17G>T (n.915+17G>T)
gnomAD v4
3g.49130933C=CA1363342755LAMB2c.915+17G= (n.915+17G=)
3g.49130933C>GCA2756174320LAMB2c.915+17G>C (n.915+17G>C)
3g.49130933C>TCA2394763LAMB2c.915+17G>A (n.915+17G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched