ID   Sex   NBAS Mutations   Protein Levels Fibroblasts   Clinical Features
cDNA (NM_015909.3), Protein (NP_056993.2)   NBAS   p31   AO   Age Last Crisis   Number of ALF   Age Last Visit   Other Clinical Findings
F1:II.1  F  c.[558_560del];[686dup], p.[Ile187del];[Ser230Glnfs∗4]  21%  27%  21  14 9/12 years  2  18 years  none reported
F2:II.1  F  c.[2708T>G];[2708T>G], p.[Leu903Arg];[Leu903Arg]  22%  30%  7  21 1/12 years  7  22 years  acute renal failure, epilepsy
F3:II.1  F  c.[603_605del];[3164T>C], p.[Leu202del];[Leu1055Pro]  20%  38%  10  11 7/12 years  5  18 years  celiac disease
F4:II.3  F  c.[2708T>G];[2827G>T], p.[Leu903Arg];[Glu943∗]  26%  38%  8  ND  ND  37 years  none reported
F5:II.2  M  c.[3010C>T];[3164T>C], p.[Arg1004∗];[Leu1055Pro];  18%  33%  7  9 10/12 years  10  14 years  cardiomyopathy
F6:II.1  M  c.1533_1545del];[2951T>G], p.[Ile512Thrfs∗4];[Ile984Ser]  ND  ND  18  3 11/12 years  5  3 years  none reported
F7:II.1  F  c.[1042C>T];[2203−3C>G], p.[Pro348Ser];[?]  32%  ND  11  6 7/12 years  4  9 years  none reported
F7:II.2  F  c.[1042C>T];[2203−3C>G], p.[Pro348Ser];[?]  36%  ND  6 8/12 years  6 8/12 years  1  11 years  erythema nodosum, Crohn’s disease
F8:II.2  M  c.[1187G>A];[2330C>A], p.[Trp396∗];[Pro777His]  ND  ND  21  3 years  1  8 years  none reported
F9:II.2  F  c.[118−2A>G];[2524G>T], p.[?(;)Val842Phe]  ND  ND  18  2 2/12 years  3  4 years  none reported
F10:II.1  F  c.[686dup];[3164T>C], p.[Ser230Glnfs∗4];[Leu1055Pro]  ND  ND  4  5 10/12 years  5  18 years  ND