Study Number | Mutation (reference sequence NM_003361.3) | Protein Alteration | Family history of renal disease | Diagnosis of FJHN/ ADTKD-UMOD prior to study | Age at RRT | Hyperuricaemia | Gout |
---|---|---|---|---|---|---|---|
FN68 301a | c.202G > A | p.(Glu68Lys) | Yes | Yes | 41 | No | No |
FN9 304a | c.263G > T | p.(Gly88Val) | Yes | Yes | 44 | Yes | No |
FN2 301 | c.272-274del | p.(Ser91del) | Yes | Yes | 39 | Yes | Yes |
FN2 302 | c.272-274del | p.(Ser91del) | Yes | Yes | 45 | Yes | No |
FN2 303a | c.272-274del | p.(Ser91del) | Yes | Yes | 58 | Yes | No |
FN3 301a | c.272-274del | p.(Ser91del) | Yes | No | Yes | No | |
FN3 305a | c.272-274del | p.(Ser91del) | Yes | No | 64 | No | |
FN3 409a | c.272-274del | p.(Ser91del) | Yes | No | 38 | No | No |
FN26 301a | c.272-274del | p.(Ser91del) | Yes | No | 56 | Yes | No |
FN45 304a | c.272-274del | p.(Ser91del) | Yes | Yes | 45 | Yes | No |
FN45 404a | c.272-274del | p.(Ser91del) | Yes | Yes | 51 | No | Yes |
FN45 405a | c.272-274del | p.(Ser91del) | Yes | Yes | 37 | No | |
FN65 201 | c.272-274del | p.(Ser91del) | Yes | Yes | 66 | No | |
FN65 202 | c.272-274del | p.(Ser91del) | Yes | Yes | 59 | No | |
FN65 203a | c.272-274del | p.(Ser91del) | Yes | Yes | 59 | Yes | No |
FN65 301 | c.272-274del | p.(Ser91del) | Yes | Yes | Yes | Yes | |
FN65 401 | c.272-274del | p.(Ser91del) | Yes | Yes | 47 | Yes | Yes |
FN65 402 | c.272-274del | p.(Ser91del) | Yes | Yes | Yes | Yes | |
FN65 412a | c.272-274del | p.(Ser91del) | Yes | Yes | 54 | No | Yes |
FN1 303a | c.278_289delinsCCGCCTCCT | p.(Val93_Gly97delinsAlaAlaSerCys) | Yes | No | 62 | Yes | No |
FN24 305a | c.278_289delinsCCGCCTCCT | p.(Val93_Gly97delinsAlaAlaSerCys) | Yes | No | 42 | Yes | No |
FN47 404a | c.278_289delinsCCGCCTCCT | p.(Val93_Gly97delinsAlaAlaSerCys) | Yes | Yes | 49 | Yes | No |
FN77 301a | c.278_289delinsCCGCCTCCT | p.(Val93_Gly97delinsAlaAlaSerCys) | Yes | Yes | 49 | Yes | No |
FN20 302 | c.443G > A | p.(Cys148Tyr) | Yes | Yes | 50 | Yes | Yes |
FN20 403 | c.443G > A | p.(Cys148Tyr) | Yes | Yes | Yes | No | |
FN64 303a | c.614 T > C | p.(Phe205Ser) | Yes | No | 42 | Yes | Yes |
FN23 302 | c.629G > A | p.(Gly210Asp) | Yes | No | 36 | Yes | Yes |
FN23 303 | c.629G > A | p.(Gly210Asp) | Yes | No | 46 | No | |
FN27 304a | c.688 T > C | p.(Trp230Arg) | Yes | No | 63 | Yes | Yes |
FN27 306a | c.688 T > C | p.(Trp230Arg) | Yes | No | Yes | Yes | |
FN28 302 | c.688 T > C | p.(Trp230Arg) | Yes | Yes | 57 | Yes | Yes |
FN28 401a | c.688 T > C | p.(Trp230Arg) | Yes | Yes | Yes | Yes | |
FN7 305 | c.860G > A | p.(Cys287Tyr) | Yes | Yes | 27 | Yes | Yes |
FN35 403a | c.917G > A | p.(Cys287Tyr) | Yes | Yes | 57 | Yes | No |
FN35 501a | c.917G > A | p.(Cys287Tyr) | Yes | Yes | 42 | Yes | Yes |