| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (A154T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (R112C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (R315Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (R121Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (R93H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (D271E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (R260H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (E43K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (R233H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (A223V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (A204V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (E370D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | LOC442028, TEKT4 (R112H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (V88A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (D213N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (R113C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (A209V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (T245N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (A148T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (L261V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (H125N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (R73H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (N252S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (R258H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (S399N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (V142M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (E394K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC442028, TEKT4 (R36H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | LOC442028, TEKT4 (C175Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC442028, TEKT4 (R315W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Premature ovarian failure | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129934355, LOC129934356 +348 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |