Table 1 Genotypes of LD patients living in Germany

NC_000006.11:

NM_005670.3:

1^a

g.146056376 T > C

c.259A > G

p.(Lys87Glu)

Homo.

2^a

g.[146056360_146056366del]; [145,948,631 T > A]

c.[269_275del];[917A > T]

p.[(Lys90Serfs*35);(Asp306Val)]

Comp. het.

[6]

3^a

g.146056345A > C

c.290 T > G

p.(Leu97Arg)

Homo.

4

g.146007412G > A

c.322C > T

p.(Arg108Cys)

Homo.

[1]

5^a

g.145948789delinsTGCATG

c.759delinsCATGCA

p.(Ala254Metfs*33)

Homo.

6^a

g.145948712C > A

c.836G > T

p.(Gly279Val)

Homo.

NC_000006.11:

NM_198586.2:

7^a

g.18122453G > A

c.385C > T

p.(Pro129Ser)

Homo.

8, 9

g.18122402C > T

c.436G > A

p.Asp146Asn

Homo.

[2, 7]

10^a

g.[18122402C > T]; [18122108delC]

c.[436G > A];[730delG]

p.[(Asp146Asn);(Val244Serfs*51)]

Comp. het.

[2, 7]

11^a

g.18122255del

c.583del

p.(Asp195Ilefs*37)

Homo.