From: Whole exome sequencing in three families segregating a pediatric case of sarcoidosis
Gene | Trios | Chr | Position | Variant | QUAL | Depth | Annotation | Reference | SIFT | Polyphen | EXaC |
---|---|---|---|---|---|---|---|---|---|---|---|
IGSF3 | T1 | 1 | 117122285 | I.F. INS | 14,580 | 191 | c.3122_3123insGGA p.Asp1040_Asp1041insGlu (NM_001542.3) | rs114915440 | IN FRAME INS | IN FRAME INS | 0.25 |
SPICE1 | T1 | 3 | 113172543 | SNP | 3572 | 291 | c.1912 T > G p.Ser638Ala (NM_144718.3) | nd | unknown | unknown | nd |
ZNF717 | T2 | 3 | 75781257 | SNP | 106,499 | 580 | c.293A > C p.Gln98Pro (NM_001290210.1) | rs150224351 | 0.06 | 0 | nd |
CTNND2 | T2 | 5 | 10981914 | SNP | 299 | 111 | c.3388G > A p.Ala1130Thr (NM_001332.3) | nd | unknown | unknown | nd |
NPHS2 | T3 | 1 | 179526340 | SNP | 6106 | 530 | c.560 T > C p.Met187Thr (NM_014625.3) | nd | unknown | unknown | nd |
PRSS55 | T3 | 8 | 10390473 | SNP | 3426 | 172 | c.656G > C p.Trp219Ser (NM_198464.3) | nd | unknown | unknown | nd |