The TNFRSF1A variants in the 158 patients
| Variant (protein variant) | Location | Number of cases (%) | Ethnicity |
|---|---|---|---|
| D12E (p.Asp41Glu) | Exon 2 | 3 (2) | Caucasian |
| H22Q (p.His51Gln) | 2 (1) | Caucasian | |
| H22R (p.His51Arg) | 3 (2) | Caucasian | |
| C29F (p.Cys58Phe) | 1 (0.5) | Caucasian | |
| C29Y (p.Cys58Tyr) | 1 (0.5) | Asian | |
| C30F (p.Cys59Phe) | 1 (0.5) | Caucasian | |
| C30R (p.Cys59Arg) | 4 (3) | Caucasian | |
| C30Y (p.Cys59Tyr) | 1 (0.5) | Caucasian | |
| C33G (p.Cys62Gly) | 1 (0.5) | Arab | |
| C33Y (p.Cys62Tyr) | 12 (8) | Caucasian | |
| c.193-14G>A | Intron 2 | 1 (0.5) | Caucasian |
| c.194-15C>T | 1 (0.5) | Caucasian | |
| T37I (p.Thr66Ile) | Exon 3 | 2 (1) | Arab |
| 1 (0.5) | Caucasian | ||
| Y38S (c.200A>C) | 1 (0.5) | Caucasian | |
| L39F (p.Leu68Phe) | 4 (3) | Caucasian | |
| D42DEL (p.Asp71del) | 1 (0.5) | Caucasian | |
| C43G (c214T>G) | 3 (2) | Caucasian | |
| C43R (p.Cys72Arg) | 1 (0.5) | Caucasian | |
| C43S (p.Cys72Ser) | 1 (0.5) | Caucasian | |
| C43Y (p.Cys72Tyr) | 5 (3) | Arab, Sub-Saharan African×2, Caucasian×2 | |
| P46L (p.Pro75Leu) | Caucasian | ||
| Caucasian×15, African×1 | |||
| T50K (p.Thr79Lys) | 2 (1) | Caucasian Caucasian×3, Arab×1 | |
| T50M (p.Thr79Met) | 16 (10) | Caucasian | |
| Caucasian | |||
| C52Y (p.Cys81Tyr) | 5 (3) | Caucasian | |
| C55Y (p.Cys84Tyr) | 4 (3) | Caucasian | |
| Caucasian | |||
| S59P (p.Ser88Pro) | 1 (0.5) | Caucasian | |
| F60L (p.Phe89Leu) | 2 (1) | Caucasian | |
| T61N (p.Thr90Asn) | 2 (1) | ||
| N65I (p.Asn94Ile) | 2 (1) | Caucasian | |
| H66L (p.His95Leu) | 1 (0.5) | Caucasian | |
| L67P (p.Leu96Pro) | 1 (0.5) | ||
| H69fs (p.His98_Cys99delinsArg) | 1 (0.5) | ||
| C73R (p.Cys102Arg) | |||
| C73W (p.Cys102Trp) | 1 (0.5) | ||
| 2 (1) | |||
| C88Y (p.Cys117Tyr) | Exon 4 | 1 (0.5) | Caucasian |
| R92P (p.Arg121Pro) | 1 (0.5) | Caucasian | |
| R92Q (p.Arg121Gln) | 54 (34) | Caucasian | |
| V95M (p.Val124Met) | 2 (1) | Caucasian | |
| C96Y (p.Cys125Tyr) | 1 (0.5) | Caucasian | |
| Y103_R104DEL (p.Tyr132_Arg133del) | 1 (0.5) | Caucasian | |
| E109A (p.Glu138Ala) | |||
| C114W (p.Cys143Trp | 2 (1) | Caucasian | |
| N116S (p.Asn145Ser) | 1 (0.5) | Caucasian | |
| 1 (0.5) | Caucasian | ||
| c.472+6C>T | Intron 4 | 2 (1) | Caucasian |
| L167_G175del (c.586_612del127 | Exon 6 | 1 (0.5) | Asian |
| Intronic substitution c626-32G>T | Intron 6 | 1 (0.5) | Caucasian |