Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209629749C>ACA344592156LAMB3c.1120G>T (p.Glu374Ter)
c.928G>T (p.Glu310Ter)
1g.209629749C>GCA344592157LAMB3c.1120G>C (p.Glu374Gln)
c.928G>C (p.Glu310Gln)
1g.209629749C>TCA344592158LAMB3c.1120G>A (p.Glu374Lys)
c.928G>A (p.Glu310Lys)
1g.209629750C>ACA344592159LAMB3c.1119G>T (p.Gln373His)
c.927G>T (p.Gln309His)
1g.209629750C=CA2484300780LAMB3c.1119G= (p.Gln373=)
c.927G= (p.Gln309=)
1g.209629750C>GCA344592160LAMB3c.1119G>C (p.Gln373His)
c.927G>C (p.Gln309His)
1g.209629750C>TCA1375696LAMB3c.1119G>A (p.Gln373=)
c.927G>A (p.Gln309=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209629751T>ACA344592161LAMB3c.1118A>T (p.Gln373Leu)
c.926A>T (p.Gln309Leu)
1g.209629751T>CCA344592162LAMB3c.1118A>G (p.Gln373Arg)
c.926A>G (p.Gln309Arg)
dbSNP gnomAD v2 gnomAD v4
1g.209629751T>GCA344592163LAMB3c.1118A>C (p.Gln373Pro)
c.926A>C (p.Gln309Pro)
gnomAD v4
1g.209629751T=CA2484300784LAMB3c.1118A= (p.Gln373=)
c.926A= (p.Gln309=)
1g.209629752G>ACA16040695LAMB3c.1117C>T (p.Gln373Ter)
c.925C>T (p.Gln309Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209629752G>CCA344592165LAMB3c.1117C>G (p.Gln373Glu)
c.925C>G (p.Gln309Glu)
1g.209629752G=CA2484300785LAMB3c.1117C= (p.Gln373=)
c.925C= (p.Gln309=)
1g.209629752G>TCA344592164LAMB3c.1117C>A (p.Gln373Lys)
c.925C>A (p.Gln309Lys)
1g.209629753A>CCA344592166LAMB3c.1116T>G (p.Ile372Met)
c.924T>G (p.Ile308Met)
1g.209629753A>GCA423032206LAMB3c.1116T>C (p.Ile372=)
c.924T>C (p.Ile308=)
1g.209629753A>TCA423032207LAMB3c.1116T>A (p.Ile372=)
c.924T>A (p.Ile308=)
1g.209629754A>CCA344592167LAMB3c.1115T>G (p.Ile372Ser)
c.923T>G (p.Ile308Ser)
1g.209629754A>GCA344592168LAMB3c.1115T>C (p.Ile372Thr)
c.923T>C (p.Ile308Thr)
gnomAD v4
1g.209629754A>TCA344592169LAMB3c.1115T>A (p.Ile372Asn)
c.923T>A (p.Ile308Asn)
1g.209629755T>ACA344592170LAMB3c.1114A>T (p.Ile372Phe)
c.922A>T (p.Ile308Phe)
1g.209629755T>CCA344592171LAMB3c.1114A>G (p.Ile372Val)
c.922A>G (p.Ile308Val)
gnomAD v4
1g.209629755T>GCA344592172LAMB3c.1114A>C (p.Ile372Leu)
c.922A>C (p.Ile308Leu)
1g.209629756G>ACA423032208LAMB3c.1113C>T (p.Ser371=)
c.921C>T (p.Ser307=)
1g.209629756G>CCA423032209LAMB3c.1113C>G (p.Ser371=)
c.921C>G (p.Ser307=)
1g.209629756G>TCA423032210LAMB3c.1113C>A (p.Ser371=)
c.921C>A (p.Ser307=)
1g.209629757G>ACA344592173LAMB3c.1112C>T (p.Ser371Phe)
c.920C>T (p.Ser307Phe)
1g.209629757G>CCA344592174LAMB3c.1112C>G (p.Ser371Cys)
c.920C>G (p.Ser307Cys)
1g.209629757G>TCA344592175LAMB3c.1112C>A (p.Ser371Tyr)
c.920C>A (p.Ser307Tyr)
1g.209629758A>CCA344592176LAMB3c.1111T>G (p.Ser371Ala)
c.919T>G (p.Ser307Ala)
1g.209629758A>GCA344592177LAMB3c.1111T>C (p.Ser371Pro)
c.919T>C (p.Ser307Pro)
1g.209629758A>TCA344592178LAMB3c.1111T>A (p.Ser371Thr)
c.919T>A (p.Ser307Thr)
1g.209629759A>CCA423032213LAMB3c.1110T>G (p.Ala370=)
c.918T>G (p.Ala306=)
1g.209629759A>GCA423032215LAMB3c.1110T>C (p.Ala370=)
c.918T>C (p.Ala306=)
1g.209629759A>TCA423032214LAMB3c.1110T>A (p.Ala370=)
c.918T>A (p.Ala306=)
1g.209629760G>ACA344592181LAMB3c.1109C>T (p.Ala370Val)
c.917C>T (p.Ala306Val)
1g.209629760G>CCA344592180LAMB3c.1109C>G (p.Ala370Gly)
c.917C>G (p.Ala306Gly)
1g.209629760G>TCA344592179LAMB3c.1109C>A (p.Ala370Asp)
c.917C>A (p.Ala306Asp)
1g.209629761C>ACA344592182LAMB3c.1108G>T (p.Ala370Ser)
c.916G>T (p.Ala306Ser)
dbSNP gnomAD v3 gnomAD v4
1g.209629761C=CA2484300789LAMB3c.1108G= (p.Ala370=)
c.916G= (p.Ala306=)
1g.209629761C>GCA344592183LAMB3c.1108G>C (p.Ala370Pro)
c.916G>C (p.Ala306Pro)
1g.209629761C>TCA344592184LAMB3c.1108G>A (p.Ala370Thr)
c.916G>A (p.Ala306Thr)
dbSNP gnomAD v3 gnomAD v4
1g.209629762T>ACA423032216LAMB3c.1107A>T (p.Gly369=)
c.915A>T (p.Gly305=)
1g.209629762T>CCA423032217LAMB3c.1107A>G (p.Gly369=)
c.915A>G (p.Gly305=)
1g.209629762T>GCA423032218LAMB3c.1107A>C (p.Gly369=)
c.915A>C (p.Gly305=)
1g.209629763C>ACA344592185LAMB3c.1106G>T (p.Gly369Val)
c.914G>T (p.Gly305Val)
1g.209629763C>GCA344592186LAMB3c.1106G>C (p.Gly369Ala)
c.914G>C (p.Gly305Ala)
gnomAD v4
1g.209629763C>TCA344592187LAMB3c.1106G>A (p.Gly369Glu)
c.914G>A (p.Gly305Glu)
1g.209629764C>ACA344592188LAMB3c.1105G>T (p.Gly369Ter)
c.913G>T (p.Gly305Ter)

Number of alleles fetched