| ID . | Sex . | Ethnicity . | cDNA (NM_022834.4) . | Protein (NP_073745.2) . | Consanguinity of parents . |
|---|---|---|---|---|---|
| Family 1 | Roma | c.252del homozygous | p.(Glu85Serfs*58) | First cousins | |
| F1-II.2 | Male | ||||
| F1-II.4 | Female | ||||
| F1-II.5 | Female | ||||
| F1-II.6 | Male | ||||
| Family 2 | German | c.62_71dup c.94C>T compound heterozygous | p.(Gly25Argfs*74) p.(Arg32*) | No | |
| F2-II.1 | Male | ||||
| Family 3 | Arab | c.62_71del homozygous | p.(Gly21Alafs*12) | First cousins | |
| F3-II.3 | Female | ||||
| F3-II.4 | Male | ||||
| F3-II.5 | Female | ||||
| F3-II.7 | Male | ||||
| F3-II.9 | Female | ||||
| Family 4 | German | c.62_71dup c.879del compound heterozygous | p.(Gly25Argfs*74) p.(Arg293Serfs *58) | No | |
| F4-II.1 | Female | ||||
| F4-II.2 | Female | ||||
| Family 5 | German | c.186_209del homozygous | p.(Pro63_Ala 70del) | No | |
| F5-II.1 | Male | ||||
| F5-II.2 | Male | ||||
| Family 6 | German | c.62_71dup homozygous | p.(Gly25Argfs*74) | No | |
| F6-II.1 | Male |
| ID . | Sex . | Ethnicity . | cDNA (NM_022834.4) . | Protein (NP_073745.2) . | Consanguinity of parents . |
|---|---|---|---|---|---|
| Family 1 | Roma | c.252del homozygous | p.(Glu85Serfs*58) | First cousins | |
| F1-II.2 | Male | ||||
| F1-II.4 | Female | ||||
| F1-II.5 | Female | ||||
| F1-II.6 | Male | ||||
| Family 2 | German | c.62_71dup c.94C>T compound heterozygous | p.(Gly25Argfs*74) p.(Arg32*) | No | |
| F2-II.1 | Male | ||||
| Family 3 | Arab | c.62_71del homozygous | p.(Gly21Alafs*12) | First cousins | |
| F3-II.3 | Female | ||||
| F3-II.4 | Male | ||||
| F3-II.5 | Female | ||||
| F3-II.7 | Male | ||||
| F3-II.9 | Female | ||||
| Family 4 | German | c.62_71dup c.879del compound heterozygous | p.(Gly25Argfs*74) p.(Arg293Serfs *58) | No | |
| F4-II.1 | Female | ||||
| F4-II.2 | Female | ||||
| Family 5 | German | c.186_209del homozygous | p.(Pro63_Ala 70del) | No | |
| F5-II.1 | Male | ||||
| F5-II.2 | Male | ||||
| Family 6 | German | c.62_71dup homozygous | p.(Gly25Argfs*74) | No | |
| F6-II.1 | Male |
| ID . | Sex . | Ethnicity . | cDNA (NM_022834.4) . | Protein (NP_073745.2) . | Consanguinity of parents . |
|---|---|---|---|---|---|
| Family 1 | Roma | c.252del homozygous | p.(Glu85Serfs*58) | First cousins | |
| F1-II.2 | Male | ||||
| F1-II.4 | Female | ||||
| F1-II.5 | Female | ||||
| F1-II.6 | Male | ||||
| Family 2 | German | c.62_71dup c.94C>T compound heterozygous | p.(Gly25Argfs*74) p.(Arg32*) | No | |
| F2-II.1 | Male | ||||
| Family 3 | Arab | c.62_71del homozygous | p.(Gly21Alafs*12) | First cousins | |
| F3-II.3 | Female | ||||
| F3-II.4 | Male | ||||
| F3-II.5 | Female | ||||
| F3-II.7 | Male | ||||
| F3-II.9 | Female | ||||
| Family 4 | German | c.62_71dup c.879del compound heterozygous | p.(Gly25Argfs*74) p.(Arg293Serfs *58) | No | |
| F4-II.1 | Female | ||||
| F4-II.2 | Female | ||||
| Family 5 | German | c.186_209del homozygous | p.(Pro63_Ala 70del) | No | |
| F5-II.1 | Male | ||||
| F5-II.2 | Male | ||||
| Family 6 | German | c.62_71dup homozygous | p.(Gly25Argfs*74) | No | |
| F6-II.1 | Male |
| ID . | Sex . | Ethnicity . | cDNA (NM_022834.4) . | Protein (NP_073745.2) . | Consanguinity of parents . |
|---|---|---|---|---|---|
| Family 1 | Roma | c.252del homozygous | p.(Glu85Serfs*58) | First cousins | |
| F1-II.2 | Male | ||||
| F1-II.4 | Female | ||||
| F1-II.5 | Female | ||||
| F1-II.6 | Male | ||||
| Family 2 | German | c.62_71dup c.94C>T compound heterozygous | p.(Gly25Argfs*74) p.(Arg32*) | No | |
| F2-II.1 | Male | ||||
| Family 3 | Arab | c.62_71del homozygous | p.(Gly21Alafs*12) | First cousins | |
| F3-II.3 | Female | ||||
| F3-II.4 | Male | ||||
| F3-II.5 | Female | ||||
| F3-II.7 | Male | ||||
| F3-II.9 | Female | ||||
| Family 4 | German | c.62_71dup c.879del compound heterozygous | p.(Gly25Argfs*74) p.(Arg293Serfs *58) | No | |
| F4-II.1 | Female | ||||
| F4-II.2 | Female | ||||
| Family 5 | German | c.186_209del homozygous | p.(Pro63_Ala 70del) | No | |
| F5-II.1 | Male | ||||
| F5-II.2 | Male | ||||
| Family 6 | German | c.62_71dup homozygous | p.(Gly25Argfs*74) | No | |
| F6-II.1 | Male |
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