Table 1.

Biallelic IL23R coding variants in our in-house cohort of 24,046 patients and in cohorts of individuals from the general population

VariantgnomADN_Homozygotes
CADDMAFgnomADHGIDaFunction
C115Y 25.6 0 0 2 Amorphic 
c.367 + 1G>A 25.8 0 0 1 Amorphic 
E269* 36 0 0 2 Amorphic 
c.1149-1G>A 24.2 0 0 1 Amorphic 
Q3Hb 9.9 5.30E-01 228,378 6,593 Isomorphic 
A55T 5.87 2.50E-05 0$ 0 Isomorphic 
R86Q 2.4 2.70E-03 15 0 Isomorphic 
G149R 24.9 6.20E-03 121 2 Hypomorphic 
K150T 14.2 6.20E-07 1 0 Isomorphic 
V159M 18.9 4.60E-05 2 0 Isomorphic 
V160A 24.7 7.20E-05 2 0 Isomorphic 
L193F 20.5 1.80E-04 1 1 Isomorphic 
A199V 6.5 5.70E-04 2 1 Isomorphic 
S221F 26.5 1.60E-04 1 0 Isomorphic 
G300V 23.6 2.40E-05 0& 5 Hypomorphic 
P306S 0.008 5.60E-05 0$ 0 Isomorphic 
L310Pb 10.7 8.80E-01 621,497 18,917 Isomorphic 
R381Qb 26 5.50E-02 2,839 98 Hypomorphic 
V362Ib 0.1 1.20E-02 171 18 Isomorphic 
L372F 23.9 4.10E-05 0@ 0 Hypomorphic 
I373F 22.7 4.20E-05 0@ 0 Isomorphic 
Q487H 23.4 6.20E-07 0 1 Isomorphic 
S559R 15.2 8.20E-05 2 0 Isomorphic 

For the general population, the following databases were screened: gnomAD v4.1.0, ATAVDB, Great Middle East, Iranome, and BRAVO.

One individual is homozygous for this variant in ATAVDB ($), Turkish Variome (&), or BRAVO (@).

CADD, combined annotation-dependent depletion.

a

Only index cases are counted.

b

Common variant (also indicated with gray shading).

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