Table 2. Genetics variants included in this study.
VOUS: Variant of unknown significance, LP: Likely pathogenic, B: benign, P: Pathogenic
| Patient | Genomic DNA Variant (chr16; GRCh37) | cDNA Change HGVS NM_138736.3 | Protein Change | Previously reported patients (PMID) | Inheritance | ACMG Classification | CADD Score | Mutation Taster | PROVEAN | SIFT | gnomAD Minor Allele Frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | chr16-56226265-G-C | c.118G>C | G40R | 28357411 and 26485252 | De novo | P (PM2, PM5, PP3, PS1, PM1, PP2, PP5, PS2) | 33 | Disease causing (1) | Damaging (−6.37, −6.38) | Damaging (0) | 0% |
| P2 | chr16-5622650-A-G | c.137A>G | K46R | No | De novo | P (PM1, PM2, PM5, PP2, PP3, PS2) | 1.083 | Disease causing (1) | Neutral (−2.41) | Damaging (0) | 0% |
| P3 | chr16-56226510-C-T | c.143C>T | T48I | No | De novo | P (PM1, PM2, PM5, PP2, PP3, PS2) | 27 | Disease causing (1) | Damaging (−4.8, −4.81) | Damaging (0) | 0% |
| P4, P5 | chr16-56368721-C-T | c.545C>T | T182I | 32581362 | De novo | P (PM2, PM1, PP2, PP3, PP5, PS2) | 28,8 | Disease causing (1) | Damaging (−5.44, −5.54) | Damaging (0) | 0% |
| P6 | chr16-56370645-T-C | c.596T>C | L199P | 27072799 (this patient) | De novo | P (PM1, PM2, PP2, PP3, PP5, PS2) | 28,5 | Disease causing (1) | Damaging (−4.67, −4.68) | Damaging (0) | 0% |
| P7 | chr16-56370675-G-C | c.626G>C | R209P | No | De novo | P (PM1, PM2, PM5, PP2, PP3, PS2) | 32 | Disease causing (1) | Damaging (−6.59) | Damaging(0.001) | 0% |
| P8 | chr16-56370741-A-G | c.692A>G | Y231C | 30682224, 28503590, and 27072799 | De novo | P (PM1, PM2, PP3, PP5, PP2, PS2) | 29,1 | Disease causing (1) | Damaging (−8.27, −8.24) | Damaging (0) | 0% |
| P9 | chr16-56370753-T-C | c.704T>C | L235P | No | De novo | P (PM2, PM1, PP2, PP3, PS2) | 32 | Disease causing (1) | Damaging (−6.56, −6.58) | Damaging (0) | 0% |
| P10 | chr16-56374893-T-A | c.871T>A | Y291R | 30682224, 34139551 (this patient) | De novo | P (PM2, PM1, PP2, PP3, PS2) | 26 | Disease causing (1) | Damaging (−8.3) | Damaging (0) | 0% |
| P11, P12, P13 | chr16-56370656-G-C | c.607G>C | G203R | 27864847, 27476654, 26485252, 25966631 and 23993195 | De novo | P (PM1, PM2, PS1, PM5, PP5, PP2, PP3, PS2) | 32 | Disease causing (1) | Damaging (−7.56) | Damaging (0) | 0% |
| P14, P15 | chr16-56370674-C-T | c.625C>T | R209C | 30103967, 33358199, 32581362, 28688840, 28357411, 27916449,27864847, 27625011, 27068059, 27476654, 26485252, 26060304,25966631 and 23993195, | De novo | P (PP5, PM1, PM5, PM2, PP2, PP3, PS2) | 32 | Disease causing (1) | Damaging (−7.55) | Damaging (0) | 0% |
| P16 | chr16-56370758-G-A | c.709G>A | E237K | 30103967, 29935962 and 32581362 | De novo | P (PP5, PM2, PM1, PP2, PP3) | 32 | Disease causing (1) | Damaging (−3.77, −3.75) | Damaging (0) | 0% |