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Table 3 Variants identified in other SARCFAM families

From: G908R NOD2 variant in a family with sarcoidosis

GENE rs Exon Codon TYPE EFFECT SIFT POLYPHEN Accession Number of family MAF (ExAC) NUCLEOTIDE ChR POSITION DEPTH mini
EPHA2 rs139787163 3 959 missense Ala959Thr 0,05 0,828 NM_004431.3 Family X 0.000346 Gcc/Acc 1 16,451,766 48
EPHA2 rs150790360 3 165 missense Val165met 0 0,062 NM_004431 1 0.001535 Gtg/Atg 1 16,475,203 157
EPHA2 rs139787163 17 959 missense Ala959Thr 0,05 0,828 NM_004431 1 0.000346 Gcc/Acc 1 16,451,766 48
KALRN rs56407180 1 10 nonsense Arg10ter STOP GAIN NM_007064.3 Family X 0.002382 c.28C > T 3 124,303,696 528
KALRN rs35298864 38 1930 missense Arg1930Met 0 0,891 NM_001024660 1 0.007276 aGg/aTg 3 124,369,782 178
IL17RA rs140221307 11 320 missense Trp320Arg 0 0,972 NM_014339.6 Family X 0.001801 c.958 T > C 22 17,586,757 370
IL17RA rs41323645 13 691 missense Ala691Thr 0,35 0,926 NM_014339.6 1 0.3023 c.2071G > A 22 17,590,180 160
Additional informations on IL17R
IL17RB rs2232346 9 278 missense Phe278Leu 0,65 0 NM_018725.3 Family X 0.01915 c.832 T > C 3 53,892,830 141
IL17RC nd 6 nd splice donor frameshift splicing defect   1 nd c.790 + 1G > T 3 9,962,287 155