Gene | Transcript | Transcript variant | Protein variant | SIFT prediction | PolyPhen-2 prediction | CADD | MSC-CADD | GDI | GDI prediction | dbSNP ID | gnomAD frequency |
---|---|---|---|---|---|---|---|---|---|---|---|
STAT1 | NM_007315.4 | c.1371G>A | p.V457V | NA | NA | 15.03 | 7.736 | 0.73972 | Medium | 144704615 | 0.028 |
PSMD2 | NM_001278709.2 | c.679G>A | p.G227S | Tolerated | Probably damaging | 26 | 6.072 | 4.97534 | Medium | NA | 0.000 |
CFI | NM_000204.5 | c.1019T>C | p.1340T | Damaging | Possibly damaging | 22.3 | 0.001 | 2.21508 | Medium | 769419740 | 0.007 |
PCDH18 | NM_019035.5 | c.3154G>A | p.G1052R | Damaging | Possibly damaging | 23.7 | 3.313 | 2.92063 | Medium | 148983038 | 0.002 |
SNX9 | NM_016224.5 | c.199C>G | p.Q67E | Tolerated | Benign | 16.55 | 3.313 | 2.29269 | Medium | 749203434 | 0.002 |
DOCKS | NM_001190458.2 | c.499C>G | p.Q167E | Tolerated | Benign | 18.27 | 0.001 | 18.28926 | High | 1233535978 | 0.000 |
GAS6 | NM_000820.4 | c,451C>T | p.R151W | Damaging | Probably damaging | 32 | 3.313 | 3.51157 | Medium | 202152067 | 0.004 |
FANCI | NM_018193.3 | c.2017C>T | p.H673Y | Damaging | Probably damaging | 25.2 | 0.001 | 17.44782 | High | 763866498 | 0.003 |
P2RX5 | NM_175080.3 | c.88G>T | p.G30C | Damaging | Probably damaging | 28 | 3.313 | 2.65609 | Medium | NA | 0.000 |
SBNO2 | NM_001100122.2 | c.1195G>A | p.E399K | Tolerated | Probably damaging | 25.2 | 3.313 | 5.7817 | Medium | 1432406684 | 0.000 |
SLC44A2 | NM_001145056.2 | c.2027A>T | p.N6761 | Damaging | Probably damaging | 26.9 | 3.313 | 2.4366 | Medium | 768714484 | 0.004 |