Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209632763G>ACA1375882LAMB3c.642C>T (p.Ile214=)
c.450C>T (p.Ile150=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632763G>CCA344594822LAMB3c.642C>G (p.Ile214Met)
c.450C>G (p.Ile150Met)
1g.209632763G=CA2484302030LAMB3c.642C= (p.Ile214=)
c.450C= (p.Ile150=)
1g.209632763G>TCA423032703LAMB3c.642C>A (p.Ile214=)
c.450C>A (p.Ile150=)
1g.209632764A=CA1143887063LAMB3c.641T= (p.Ile214=)
c.449T= (p.Ile150=)
1g.209632764A>CCA344594823LAMB3c.641T>G (p.Ile214Ser)
c.449T>G (p.Ile150Ser)
1g.209632764A>GCA1375883LAMB3c.641T>C (p.Ile214Thr)
c.449T>C (p.Ile150Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632764A>TCA344594824LAMB3c.641T>A (p.Ile214Asn)
c.449T>A (p.Ile150Asn)
1g.209632765T>ACA344594825LAMB3c.640A>T (p.Ile214Phe)
c.448A>T (p.Ile150Phe)
1g.209632765T>CCA344594826LAMB3c.640A>G (p.Ile214Val)
c.448A>G (p.Ile150Val)
dbSNP gnomAD v4
1g.209632765T>GCA344594827LAMB3c.640A>C (p.Ile214Leu)
c.448A>C (p.Ile150Leu)
1g.209632765T=CA2484302031LAMB3c.640A= (p.Ile214=)
c.448A= (p.Ile150=)
1g.209632766C>ACA344594828LAMB3c.639G>T (p.Glu213Asp)
c.447G>T (p.Glu149Asp)
1g.209632766C=CA2484302032LAMB3c.639G= (p.Glu213=)
c.447G= (p.Glu149=)
1g.209632766C>GCA344594829LAMB3c.639G>C (p.Glu213Asp)
c.447G>C (p.Glu149Asp)
1g.209632766C>TCA423032704LAMB3c.639G>A (p.Glu213=)
c.447G>A (p.Glu149=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209632767T>ACA344594830LAMB3c.638A>T (p.Glu213Val)
c.446A>T (p.Glu149Val)
1g.209632767T>CCA344594831LAMB3c.638A>G (p.Glu213Gly)
c.446A>G (p.Glu149Gly)
1g.209632767T>GCA344594832LAMB3c.638A>C (p.Glu213Ala)
c.446A>C (p.Glu149Ala)
1g.209632768C>ACA344594835LAMB3c.637G>T (p.Glu213Ter)
c.445G>T (p.Glu149Ter)
1g.209632768C>GCA344594833LAMB3c.637G>C (p.Glu213Gln)
c.445G>C (p.Glu149Gln)
1g.209632768C>TCA344594834LAMB3c.637G>A (p.Glu213Lys)
c.445G>A (p.Glu149Lys)
gnomAD v4
1g.209632772delCA2574124566LAMB3c.637del (p.Glu213ArgfsTer5)
c.445del (p.Glu149ArgfsTer5)
1g.209632769C>ACA423032710LAMB3c.636G>T (p.Gly212=)
c.444G>T (p.Gly148=)
1g.209632769C>GCA423032711LAMB3c.636G>C (p.Gly212=)
c.444G>C (p.Gly148=)
1g.209632769C>TCA423032712LAMB3c.636G>A (p.Gly212=)
c.444G>A (p.Gly148=)
ClinVar dbSNP gnomAD v4
1g.209632770C>ACA344594836LAMB3c.635G>T (p.Gly212Val)
c.443G>T (p.Gly148Val)
1g.209632770C=CA2484302033LAMB3c.635G= (p.Gly212=)
c.443G= (p.Gly148=)
1g.209632770C>GCA1375884LAMB3c.635G>C (p.Gly212Ala)
c.443G>C (p.Gly148Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632770C>TCA344594837LAMB3c.635G>A (p.Gly212Glu)
c.443G>A (p.Gly148Glu)
gnomAD v4
1g.209632771C>ACA344594838LAMB3c.634G>T (p.Gly212Trp)
c.442G>T (p.Gly148Trp)
1g.209632771C=CA2484302034LAMB3c.634G= (p.Gly212=)
c.442G= (p.Gly148=)
1g.209632771C>GCA344594839LAMB3c.634G>C (p.Gly212Arg)
c.442G>C (p.Gly148Arg)
gnomAD v4
1g.209632771C>TCA344594840LAMB3c.634G>A (p.Gly212Arg)
c.442G>A (p.Gly148Arg)
dbSNP gnomAD v2 gnomAD v4
1g.209632772C>ACA423032713LAMB3c.633G>T (p.Val211=)
c.441G>T (p.Val147=)
ClinVar dbSNP gnomAD v4
1g.209632772C=CA2484302035LAMB3c.633G= (p.Val211=)
c.441G= (p.Val147=)
1g.209632772C>GCA423032714LAMB3c.633G>C (p.Val211=)
c.441G>C (p.Val147=)
gnomAD v4
1g.209632772C>TCA423032715LAMB3c.633G>A (p.Val211=)
c.441G>A (p.Val147=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209632773A>CCA344594841LAMB3c.632T>G (p.Val211Gly)
c.440T>G (p.Val147Gly)
gnomAD v4
1g.209632773A>GCA344594842LAMB3c.632T>C (p.Val211Ala)
c.440T>C (p.Val147Ala)
1g.209632773A>TCA344594843LAMB3c.632T>A (p.Val211Glu)
c.440T>A (p.Val147Glu)
1g.209632774C>ACA344594844LAMB3c.631G>T (p.Val211Leu)
c.439G>T (p.Val147Leu)
1g.209632774C>GCA344594845LAMB3c.631G>C (p.Val211Leu)
c.439G>C (p.Val147Leu)
dbSNP
1g.209632774C>TCA344594846LAMB3c.631G>A (p.Val211Met)
c.439G>A (p.Val147Met)
1g.209632775C>ACA344594848LAMB3c.630G>T (p.Glu210Asp)
c.438G>T (p.Glu146Asp)
dbSNP gnomAD v4
1g.209632775C=CA2484302036LAMB3c.630G= (p.Glu210=)
c.438G= (p.Glu146=)
1g.209632775C>GCA344594847LAMB3c.630G>C (p.Glu210Asp)
c.438G>C (p.Glu146Asp)
1g.209632775C>TCA1375885LAMB3c.630G>A (p.Glu210=)
c.438G>A (p.Glu146=)
dbSNP ExAC gnomAD v2
1g.209632776T>ACA344594849LAMB3c.629A>T (p.Glu210Val)
c.437A>T (p.Glu146Val)
1g.209632776T>CCA1375886LAMB3c.629A>G (p.Glu210Gly)
c.437A>G (p.Glu146Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632776T>GCA344594850LAMB3c.629A>C (p.Glu210Ala)
c.437A>C (p.Glu146Ala)
1g.209632776T=CA2484302037LAMB3c.629A= (p.Glu210=)
c.437A= (p.Glu146=)
1g.209632777C>ACA344594851LAMB3c.629-1G>T (n.629-1G>T)
c.437-1G>T (n.437-1G>T)
1g.209632777C=CA1148224946LAMB3c.629-1G= (n.629-1G=)
c.437-1G= (n.437-1G=)
1g.209632777C>GCA344594852LAMB3c.629-1G>C (n.629-1G>C)
c.437-1G>C (n.437-1G>C)
1g.209632777C>TCA257288LAMB3c.629-1G>A (n.629-1G>A)
c.437-1G>A (n.437-1G>A)
ClinVar dbSNP gnomAD v4
1g.209632778T>ACA344594853LAMB3c.629-2A>T (n.629-2A>T)
c.437-2A>T (n.437-2A>T)
1g.209632778T>CCA344594854LAMB3c.629-2A>G (n.629-2A>G)
c.437-2A>G (n.437-2A>G)
1g.209632778T>GCA344594855LAMB3c.629-2A>C (n.629-2A>C)
c.437-2A>C (n.437-2A>C)
1g.209632780A>GCA2650322169LAMB3c.629-4T>C (n.629-4T>C)
c.437-4T>C (n.437-4T>C)
gnomAD v4
1g.209632781G>CCA1375887LAMB3c.629-5C>G (n.629-5C>G)
c.437-5C>G (n.437-5C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632781G=CA1144087702LAMB3c.629-5C= (n.629-5C=)
c.437-5C= (n.437-5C=)
1g.209632781G>TCA2650322170LAMB3c.629-5C>A (n.629-5C>A)
c.437-5C>A (n.437-5C>A)
ClinVar gnomAD v4
1g.209632784G>ACA2650322171LAMB3c.629-8C>T (n.629-8C>T)
c.437-8C>T (n.437-8C>T)
gnomAD v4
1g.209632785G>ACA36759770LAMB3c.629-9C>T (n.629-9C>T)
c.437-9C>T (n.437-9C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632785G=CA2484302038LAMB3c.629-9C= (n.629-9C=)
c.437-9C= (n.437-9C=)
1g.209632785G>TCA2650322172LAMB3c.629-9C>A (n.629-9C>A)
c.437-9C>A (n.437-9C>A)
gnomAD v4
1g.209632786C>ACA528652928LAMB3c.629-10G>T (n.629-10G>T)
c.437-10G>T (n.437-10G>T)
ClinVar dbSNP gnomAD v2
1g.209632786C=CA2484302039LAMB3c.629-10G= (n.629-10G=)
c.437-10G= (n.437-10G=)
1g.209632787C>ACA2484302041LAMB3c.629-11G>T (n.629-11G>T)
c.437-11G>T (n.437-11G>T)
ClinVar dbSNP gnomAD v4
1g.209632787C=CA2484302040LAMB3c.629-11G= (n.629-11G=)
c.437-11G= (n.437-11G=)
1g.209632787C>GCA2650322173LAMB3c.629-11G>C (n.629-11G>C)
c.437-11G>C (n.437-11G>C)
gnomAD v4
1g.209632788A=CA2484302042LAMB3c.629-12T= (n.629-12T=)
c.437-12T= (n.437-12T=)
1g.209632788A>TCA1375888LAMB3c.629-12T>A (n.629-12T>A)
c.437-12T>A (n.437-12T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632791C>GCA2650322174LAMB3c.629-15G>C (n.629-15G>C)
c.437-15G>C (n.437-15G>C)
gnomAD v4
1g.209632793G>ACA730835697LAMB3c.629-17C>T (n.629-17C>T)
c.437-17C>T (n.437-17C>T)
dbSNP gnomAD v3 gnomAD v4
1g.209632793G=CA2484302043LAMB3c.629-17C= (n.629-17C=)
c.437-17C= (n.437-17C=)
1g.209632796A>CCA2650322175LAMB3c.629-20T>G (n.629-20T>G)
c.437-20T>G (n.437-20T>G)
gnomAD v4
1g.209632797G>ACA36759774LAMB3c.629-21C>T (n.629-21C>T)
c.437-21C>T (n.437-21C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632797G=CA2484302044LAMB3c.629-21C= (n.629-21C=)
c.437-21C= (n.437-21C=)
1g.209632798G>ACA730835700LAMB3c.629-22C>T (n.629-22C>T)
c.437-22C>T (n.437-22C>T)
dbSNP gnomAD v3 gnomAD v4
1g.209632798G=CA2484302045LAMB3c.629-22C= (n.629-22C=)
c.437-22C= (n.437-22C=)
1g.209632799A=CA2484302046LAMB3c.629-23T= (n.629-23T=)
c.437-23T= (n.437-23T=)
1g.209632799A>GCA528652929LAMB3c.629-23T>C (n.629-23T>C)
c.437-23T>C (n.437-23T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632800G>ACA2484302048LAMB3c.629-24C>T (n.629-24C>T)
c.437-24C>T (n.437-24C>T)
dbSNP
1g.209632800G>CCA1375889LAMB3c.629-24C>G (n.629-24C>G)
c.437-24C>G (n.437-24C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632800G=CA2484302047LAMB3c.629-24C= (n.629-24C=)
c.437-24C= (n.437-24C=)
1g.209632801G>ACA2574124567LAMB3c.629-25C>T (n.629-25C>T)
c.437-25C>T (n.437-25C>T)
gnomAD v4
1g.209632802G>ACA1375890LAMB3c.629-26C>T (n.629-26C>T)
c.437-26C>T (n.437-26C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632802G=CA2484302049LAMB3c.629-26C= (n.629-26C=)
c.437-26C= (n.437-26C=)
1g.209632802G>TCA2650322176LAMB3c.629-26C>A (n.629-26C>A)
c.437-26C>A (n.437-26C>A)
gnomAD v4
1g.209632803A=CA2484302050LAMB3c.629-27T= (n.629-27T=)
c.437-27T= (n.437-27T=)
1g.209632803A>GCA1011769567LAMB3c.629-27T>C (n.629-27T>C)
c.437-27T>C (n.437-27T>C)
dbSNP gnomAD v3 gnomAD v4
1g.209632805G>TCA2574124568LAMB3c.629-29C>A (n.629-29C>A)
c.437-29C>A (n.437-29C>A)
gnomAD v4
1g.209632807G>TCA2650322177LAMB3c.629-31C>A (n.629-31C>A)
c.437-31C>A (n.437-31C>A)
gnomAD v4
1g.209632808T>ACA2650322178LAMB3c.629-32A>T (n.629-32A>T)
c.437-32A>T (n.437-32A>T)
gnomAD v4
1g.209632810G>TCA2650322179LAMB3c.629-34C>A (n.629-34C>A)
c.437-34C>A (n.437-34C>A)
gnomAD v4
1g.209632811G>ACA2747563281LAMB3c.629-35C>T (n.629-35C>T)
c.437-35C>T (n.437-35C>T)
1g.209632812delCA2650322180LAMB3c.629-36del (n.629-36del)
c.437-36del (n.437-36del)
gnomAD v4
1g.209632813G>TCA2650322181LAMB3c.629-37C>A (n.629-37C>A)
c.437-37C>A (n.437-37C>A)
gnomAD v4
1g.209632813_209632814delinsGACA2484302051LAMB3c.629-38_629-37delinsTC (n.629-38_629-37delinsTC)
c.437-38_437-37delinsTC (n.437-38_437-37delinsTC)
1g.209632814A=CA2484302052LAMB3c.629-38T= (n.629-38T=)
c.437-38T= (n.437-38T=)
1g.209632814A>CCA36759782LAMB3c.629-38T>G (n.629-38T>G)
c.437-38T>G (n.437-38T>G)
dbSNP gnomAD v4
1g.209632815delCA1375891LAMB3c.629-38del (n.629-38del)
c.437-38del (n.437-38del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632816T>CCA730835704LAMB3c.629-40A>G (n.629-40A>G)
c.437-40A>G (n.437-40A>G)
dbSNP gnomAD v3 gnomAD v4
1g.209632816T=CA2484302053LAMB3c.629-40A= (n.629-40A=)
c.437-40A= (n.437-40A=)
1g.209632817G>ACA2650322182LAMB3c.629-41C>T (n.629-41C>T)
c.437-41C>T (n.437-41C>T)
gnomAD v4
1g.209632818G>ACA2747563282LAMB3c.629-42C>T (n.629-42C>T)
c.437-42C>T (n.437-42C>T)
1g.209632825A>GCA2650322183LAMB3c.629-49T>C (n.629-49T>C)
c.437-49T>C (n.437-49T>C)
gnomAD v4
1g.209632831G>CCA2650322184LAMB3c.629-55C>G (n.629-55C>G)
c.437-55C>G (n.437-55C>G)
gnomAD v4
1g.209632832G>ACA2574124569LAMB3c.629-56C>T (n.629-56C>T)
c.437-56C>T (n.437-56C>T)
1g.209632832G=CA2484302054LAMB3c.629-56C= (n.629-56C=)
c.437-56C= (n.437-56C=)
1g.209632832G>TCA2484302055LAMB3c.629-56C>A (n.629-56C>A)
c.437-56C>A (n.437-56C>A)
dbSNP
1g.209632835G>ACA2650322185LAMB3c.629-59C>T (n.629-59C>T)
c.437-59C>T (n.437-59C>T)
gnomAD v4
1g.209632835_209632836delinsGTCA2484302056LAMB3c.629-60_629-59delinsAC (n.629-60_629-59delinsAC)
c.437-60_437-59delinsAC (n.437-60_437-59delinsAC)
1g.209632836T>CCA2574124570LAMB3c.629-60A>G (n.629-60A>G)
c.437-60A>G (n.437-60A>G)
1g.209632837delCA2484302057LAMB3c.629-60del (n.629-60del)
c.437-60del (n.437-60del)
dbSNP gnomAD v4
1g.209632838A>GCA2574124571LAMB3c.629-62T>C (n.629-62T>C)
c.437-62T>C (n.437-62T>C)
gnomAD v4
1g.209632838A>TCA646386270LAMB3c.629-62T>A (n.629-62T>A)
c.437-62T>A (n.437-62T>A)
gnomAD v4 COSMIC
1g.209632839G>ACA2545161384LAMB3c.629-63C>T (n.629-63C>T)
c.437-63C>T (n.437-63C>T)
1g.209632839G>CCA2650322186LAMB3c.629-63C>G (n.629-63C>G)
c.437-63C>G (n.437-63C>G)
gnomAD v4
1g.209632839G>TCA2650322187LAMB3c.629-63C>A (n.629-63C>A)
c.437-63C>A (n.437-63C>A)
gnomAD v4
1g.209632841G>ACA36759786LAMB3c.629-65C>T (n.629-65C>T)
c.437-65C>T (n.437-65C>T)
dbSNP gnomAD v4
1g.209632841G=CA2484302058LAMB3c.629-65C= (n.629-65C=)
c.437-65C= (n.437-65C=)
1g.209632841G>TCA2650322188LAMB3c.629-65C>A (n.629-65C>A)
c.437-65C>A (n.437-65C>A)
gnomAD v4
1g.209632842G>ACA2747563283LAMB3c.629-66C>T (n.629-66C>T)
c.437-66C>T (n.437-66C>T)
1g.209632842G>TCA2650322189LAMB3c.629-66C>A (n.629-66C>A)
c.437-66C>A (n.437-66C>A)
gnomAD v4
1g.209632843C>ACA2650322190LAMB3c.629-67G>T (n.629-67G>T)
c.437-67G>T (n.437-67G>T)
gnomAD v4
1g.209632843C>TCA2650322191LAMB3c.629-67G>A (n.629-67G>A)
c.437-67G>A (n.437-67G>A)
gnomAD v4
1g.209632845C>TCA2650322192LAMB3c.629-69G>A (n.629-69G>A)
c.437-69G>A (n.437-69G>A)
gnomAD v4
1g.209632846A=CA1141372571LAMB3c.629-70T= (n.629-70T=)
c.437-70T= (n.437-70T=)
1g.209632846A>GCA36759791LAMB3c.629-70T>C (n.629-70T>C)
c.437-70T>C (n.437-70T>C)
dbSNP gnomAD v4
1g.209632847T>CCA36759793LAMB3c.629-71A>G (n.629-71A>G)
c.437-71A>G (n.437-71A>G)
dbSNP gnomAD v3 gnomAD v4
1g.209632847T>GCA2650322194LAMB3c.629-71A>C (n.629-71A>C)
c.437-71A>C (n.437-71A>C)
gnomAD v4
1g.209632847T=CA2484302059LAMB3c.629-71A= (n.629-71A=)
c.437-71A= (n.437-71A=)
1g.209632848A>GCA2574124572LAMB3c.629-72T>C (n.629-72T>C)
c.437-72T>C (n.437-72T>C)
1g.209632849G>TCA2574124573LAMB3c.629-73C>A (n.629-73C>A)
c.437-73C>A (n.437-73C>A)
1g.209632851G>TCA2650322195LAMB3c.629-75C>A (n.629-75C>A)
c.437-75C>A (n.437-75C>A)
gnomAD v4
1g.209632852T>ACA2650322196LAMB3c.629-76A>T (n.629-76A>T)
c.437-76A>T (n.437-76A>T)
gnomAD v4
1g.209632852T>CCA2650322197LAMB3c.629-76A>G (n.629-76A>G)
c.437-76A>G (n.437-76A>G)
gnomAD v4
1g.209632856C>TCA2650322199LAMB3c.629-80G>A (n.629-80G>A)
c.437-80G>A (n.437-80G>A)
gnomAD v4
1g.209632857_209632859delCA2650322198LAMB3c.629-82_629-80del (n.629-82_629-80del)
c.437-82_437-80del (n.437-82_437-80del)
gnomAD v4
1g.209632857T>ACA2650322201LAMB3c.629-81A>T (n.629-81A>T)
c.437-81A>T (n.437-81A>T)
gnomAD v4
1g.209632857T>CCA36759796LAMB3c.629-81A>G (n.629-81A>G)
c.437-81A>G (n.437-81A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632857T=CA2484302060LAMB3c.629-81A= (n.629-81A=)
c.437-81A= (n.437-81A=)
1g.209632859C>ACA36759802LAMB3c.629-83G>T (n.629-83G>T)
c.437-83G>T (n.437-83G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632859C=CA2484302061LAMB3c.629-83G= (n.629-83G=)
c.437-83G= (n.437-83G=)
1g.209632860A>TCA2650322202LAMB3c.629-84T>A (n.629-84T>A)
c.437-84T>A (n.437-84T>A)
gnomAD v4
1g.209632863T>ACA36759806LAMB3c.629-87A>T (n.629-87A>T)
c.437-87A>T (n.437-87A>T)
dbSNP gnomAD v4
1g.209632863T>CCA36759808LAMB3c.629-87A>G (n.629-87A>G)
c.437-87A>G (n.437-87A>G)
dbSNP gnomAD v3 gnomAD v4
1g.209632863T>GCA2484302062LAMB3c.629-87A>C (n.629-87A>C)
c.437-87A>C (n.437-87A>C)
dbSNP
1g.209632863T=CA1141575499LAMB3c.629-87A= (n.629-87A=)
c.437-87A= (n.437-87A=)

Number of alleles fetched