Table 1.
ENTPD1 variants identified in this study.
| Family # | Ancestry | Genomic Position (hg19) | Transcript | Nucleotide change | Amino Acid change | Zygosity | gnomAD AF | CADD (v1.6) score |
|---|---|---|---|---|---|---|---|---|
|
| ||||||||
| 1 | Iraq | Chr10:97602236 GC>AA | NM_001776.6 | c.398_399delinsAA | p.Gly133Glu | hmz | 0 htz, 0 hmz | - |
| 2 | Turkey | Chr10:97604358del | NM_001776.6 | c.540del | p.Thr181Leufs*18 | hmz | 0 htz, 0 hmz | - |
| 3,4 | Brazil | Chr10:97605310_11del | NM_001776.6 | c.770_771del | p.Gly257Glufs*18 | hmz | 0 htz, 0 hmz | - |
| 6 | Caucasian, Puerto Rico | Chr10:97605179del | NM_001776.6 | c.640del | p.Gly216Glufs*75 | cmp htz | 0 htz, 0 hmz | - |
| 5, 6, 9 | Brazil, Puerto Rico, Portugal | Chr10:97605106_9del | NM_001776.6 | c.574-6_574-3del | - | hmz, cmp htz in 6 | 0 htz, 0 hmz | - |
| 7, 10, 12 | Poland, Iran | Chr10:97620260 T>A | NM_001776.6 | c.1109 T>A | p.Leu370* | hmz | 2 htz, 0 hmz | 33 |
| 8 | Arabic | Chr10:97599488 T>G | NM_001776.6 | c.185 T>G | p.Leu62* | hmz | 0 htz, 0 hmz | 36 |
| 11 | Persia | Chr10:97626138 T>C | NM_001776.6 | c.1531 T>C | p.*511Glnext*100 | hmz | 0 htz, 0 hmz | - |
| 13 | Egypt | Chr10:97607356 C>T | NM_001776.6 | c.967 C>T | p.Gln323* | hmz | 0 htz, 0 hmz | 32 |
AF-allele frequency; CADD-combined annotation dependent depletion; hmz-homozygous; htz-heterozygous; cmp htz-compound heterozygous