Gene | Location | Nucleotide Change | Protein Change | Predicted Effect | |
---|---|---|---|---|---|
Family 1 | |||||
F; 16 yo | LMNA | Exon 4 | c.746G > A | p.Arg249Gln | Missense |
Family 2 | |||||
F; 50 yo | LMNA | Exon 9 | c.1580G > C | p.Arg.527.Pro | Missense |
Family 3 | |||||
M; 38 yo | LMNA | Exon 11 | c.1930C > T | p.Arg644Cys | Missense |
M; 38 yo | LMNA | Exon 11 | c.1930C > T | p.Arg644Cys | Missense |
Family 4 | |||||
F; 46 yo | LMNA | Exon 3 Exon 4 | c.569G > A; c. 746G > A | p.Arg190Gln p.Arg249Gln | Missense Missense |
Family 5 | |||||
F; 34 yo | LMNA | Exon 1 | c.203_208 (delAGGTGG) | p.Glu68_Val69 del | Deletion |
Family 6 | |||||
M; 52 yo | LMNA | Exon 4 | c.746G > A | p.Arg249Gln | Missense |
Family 7 | |||||
M; 46 yo | LMNA | Exon 9 | c.1567G > A | p.Gly523Arg | Missense |
Family 8 | |||||
M; 17 yo | LMNA | Exon 4 | c.775 T > G | p.Tyr259Asp | Missense |
Family 9 | |||||
M; 19 yo | LMNA | Exon 4 | c.746 G > A | p.Arg249Gln | Missense |
Family 10 | |||||
F; 29 yo | LMNA | Intron 9 | c.1608 + 1G > T | – | Splice site |
Family 11 | |||||
F; 22 yo | LMNA | Exon 1 | c.188 T > A | p.Ile63Asn | Missense |
F; 19 yo | LMNA | Exon 1 | c.188 T > A | p.Ile63Asn | Missense |
Family 12 | |||||
M; 27 yo | LMNA | Exon 4 | c.746G > A | p.Arg249Gln | Missense |