Table 1.
Genotypes of LD patients living in Germany
| P. nr. | Variant | Alleles | Ref. | ||
|---|---|---|---|---|---|
| EPM2A | |||||
| NC_000006.11: | NM_005670.3: | ||||
| 1a | g.146056376 T > C | c.259A > G | p.(Lys87Glu) | Homo. | |
| 2a | g.[146056360_146056366del]; [145,948,631 T > A] | c.[269_275del];[917A > T] | p.[(Lys90Serfs*35);(Asp306Val)] | Comp. het. | [6] |
| 3a | g.146056345A > C | c.290 T > G | p.(Leu97Arg) | Homo. | |
| 4 | g.146007412G > A | c.322C > T | p.(Arg108Cys) | Homo. | [1] |
| 5a | g.145948789delinsTGCATG | c.759delinsCATGCA | p.(Ala254Metfs*33) | Homo. | |
| 6a | g.145948712C > A | c.836G > T | p.(Gly279Val) | Homo. | |
| EPM2B | |||||
| NC_000006.11: | NM_198586.2: | ||||
| 7a | g.18122453G > A | c.385C > T | p.(Pro129Ser) | Homo. | |
| 8, 9 | g.18122402C > T | c.436G > A | p.Asp146Asn | Homo. | [2, 7] |
| 10a | g.[18122402C > T]; [18122108delC] | c.[436G > A];[730delG] | p.[(Asp146Asn);(Val244Serfs*51)] | Comp. het. | [2, 7] |
| 11a | g.18122255del | c.583del | p.(Asp195Ilefs*37) | Homo. | |
Patients with novel variants are indicated by a superscripted letter (a). Annotation based on human reference genome Homo sapiens GRCh37 (hg19)