Table 1.
Genetic Variants.
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|---|---|---|---|---|---|---|---|---|
| GENE | VARIANT | VCF DESCRIPTION | PROTEIN | ZYGOSITY | gnomAD V4.1.0FREQUENCY | CADDSCORE | REVELSCORE | CLASSIFICATION |
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| ATP1A3 | NM_152296.5: c.1072G>T | GRCh38:19:41982028:C:A | p.Gly358Cys | heterozygous | Not reported | 28.8 | 0.992 | Pathogenic |
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| TSC1 |
NM_000368.5: c.424A>G |
GRCh38:9:132923432:T:C | p.Met142Val | heterozygous | 4/1,614,016 | 25.1 | 0.779 | VUS |
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| KPNA7 |
NM_001145715.3: c.461A>T |
GRCh38:7:99195162:T:A | p.Glu154Val | heterozygous | 1826/1,551,440 | 22.4 | 0.238 | Benign |
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| DOCK7 |
NM_001271999.1: c.2605G>A |
GRCh38:1:62552893:C:T | p.Gly869Ser | heterozygous | 1177/1,604,212 | 20.2 | 0.158 | Benign |
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| DIAPH1 | NM_005219.4: c.724C>G | GRCh38:5:141580844:G:C | p.Leu242Val | heterozygous | 11/1,614,044 | 22.9 | 0.401 | Benign |
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