Table 2.
TOR2A (GRCh38/hg38, NC_000009.12, NM_001085347.2) variants identified with Sanger sequencing.
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|---|---|---|---|---|---|---|---|---|
| VARIANT | NUMBER OF SUBJECTS | ALLELE FREQUENCY | HOMOZYGOTES | PROTEIN | GNOMAD V3.1.2 ALLELE FREQUENCY | CADDPHRED-SCALED | REVEL | MetaLR |
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NM_001085347.3:c.593+31G>C NM_130459.4:c.624G>C (rs564754) |
234/307 (76.2%) |
350/614 (57.0%) |
58 | NA p.Trp208Cys |
97582/152038 (64.18%) |
0.203 | 0.032 | 0 |
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|
NM_001085347.3: c.721+32A>G (rs515182) |
290/307 (94.5%) |
370/614 (60.3%) |
40 | NA | 101903/152022 (67.03%) |
4.89 | NA | NA |
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NM_001085347.3: c.607A>G (rs538066) |
260/307 (84.7%) |
560/614 (91.2%) |
150 | p. Lys203Glu | 150579 /152218 (98.92%) |
20.4 | 0.091 | 0 |
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NM_001085347.3:c.793C>T (rs114990094) |
10/307 (3.25%) |
12/614 (1.95%) |
0 | p. Arg265Trp | 3076/152220 (2.02%) |
26.0 | 0.291 | 0.164 |
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