Table 1 (abstract P315). CNO patients with rare variants of FBLIM1
From: Proceedings of the 25th European Paediatric Rheumatology Congress (PReS 2018)
Patient | Variant | MAF | Amino Acid change | Â |
|---|---|---|---|---|
2 | rs41310367 | 0.01 | c.250+32 C>A | Heterozygote |
3 | rs41310367 | 0.01 | c.250+32 C>A | Heterozygote |
4 | rs114077715 | 0.011 | c.931G>A | Heterozygote |
6 | rs 187479896 | 0.0008 | c.717+14 A>G | Heterozygote |
7 | rs144567113 | 0.01 | c.718-29 C>T | Heterozygote |
8 | rs144567113 | 0.01 | c.718-29 C>T | Heterozygote |
9 | rs144567113 | 0.01 | c.718-29 C>T | Heterozygote |
10 | rs766409425 | 0.00002 | c.541+13G>A | Heterozygote |