Gene | Location | Nucleotide Change | Protein Change | Predicted Effect | |
---|---|---|---|---|---|
Family 1 | |||||
M; 53 yo | LMNA | Exon 6 | c.1004G > A | p.Arg335Gln | Missense |
M; 26 yo | LMNA | Exon 6 | c.1004G > A | p.Arg335Gln | Missense |
Family 2 | |||||
F; 47 yo | LMNA | Exon 7 | 1370delA | p.Lys457SerfsX2 | Deletion |
Family 3 | |||||
M; 19 yo | LMNA | Exon 6 | c.1003G > A | p.Arg335Glu | Missense |
Family 4 | |||||
F; 55 yo | LMNA | Exon 11 | c.1912G > A | p.Gly638Arg | Missense |
Family 5 | |||||
M; 54 yo | LMNA | Exon 7 | c.1202G > A | p.Arg401His | Missense |
Family 6 | |||||
M; 42 yo | LMNA | Exon 1 | n/a | p.Arg72Alafs*24 | Frame shift |
Family 7 | |||||
F; 51 yo | LMNA | Exon 4 | c.752A > C | p.Gln251Pro | Missense |
Family 8 | |||||
M; 46 yo | LMNA | Exon 9 | c.1517 A > C | p.His506Pro | Missense |
Family 9 | |||||
F; 38 yo | LMNA | Intron 9 | c1608 + 1G > T | – | Splice site |
M; 35 yo | LMNA | Intron 9 | c1608 + 1G > T | – | Splice site |
Family 10 | |||||
F; 29 yo | LMNA | Exon 3 | c.548 T > C | p.Leu183Pro | Missense |
Family 11 | |||||
F; 41 yo | LMNA | Exon 6 | c.1007G > A | p.Arg336Gln | Missense |
Family 12 | |||||
M; 60 yo | LMNA | Intron 1 | c.357-1G > A IVS1-1G > A | – | Splice site |
F; 46 yo | LMNA | Intron 1 | c.357-1G > A IVS1-1G > A | – | Splice site |
F; 49 yo | LMNA | Intron 1 | c.357-1G > A IVS1-1G > A | – | Splice site |
F; 49 yo | LMNA | Intron 1 | c.357-1G > A IVS1-1G > A | – | Splice site |
M; 21 yo | LMNA | Intron 1 | c.357-1G > A IVS1-1G > A | – | Splice site |
Family 13 | |||||
M; 38 yo | LMNA | Exon 6 | c.1129C > T | p.Arg377Cys | Missense |
Family 14 | |||||
M; 50 yo | LMNA | Exon 2 | c.481G > A | p.Glu161Lys | Missense |
Family 15 | |||||
M; 46 yo | LMNA | Exon 2 | c.466C > A | p.Arg156Ser | Missense |
M; 34 yo | LMNA | Exon 2 | c.466C > A | p.Arg156Ser | Missense |
Family 16 | |||||
M; 44 yo | LMNA | Exon 4 | c.671 C > T | p.Thr224Ile | Missense |
Family 17 | |||||
F; 39 yo | LMNA | Exon 2 | c.481G > A | p.Glu161Lys | Missense |
Family 18 | |||||
F; 37 yo | LMNA | Exon 2 | c.513G > A | pLys171Asn | Missense |
Family 19 | |||||
F; 36 yo | LMNA | Exon 5 | c.855delG | p.Ala287LeufsX191 | Deletion |