Table 2.
In silico analysis of variants found by whole-exome sequencing
| Case ID | Zygosity | Gene | Ref mRNA No. | Mutation type | Variants | Amino acid change | gnomAD | PolyPhen/SIFT/MutationTaster/CADD/DANN |
|---|---|---|---|---|---|---|---|---|
| POI-1 | Het. | DNAH6 | NM_001370.2 | missense | c.2407C > A | p.Q803K | 0.000004062 | B/T/P/T/T |
| Het. | missense | c.8680G > A | p.V2894M | 0 | D/D/D/D/D | |||
| POI-3 | Het. | BNC1 | NM_001717.4 | missense | c.1724A > T | p.D575V | 0.0003 | D/T/D/D/D |
| POI-6 | Het. | HFM1 | NM_001017975.6 | missense | c.3100G > A | p.G1034S | 0 | D/D/D/D/D |
| Het. | splice-site | c.1006 + 1G > T | – | 0.00000523 | −/−/D/D/D | |||
| POI-7 | Het. | EIF2B4 | NM_015636.3 | missense | c.1397G > A | p.R466Q | 0.00007716 | D/T/D/D/D |
| POI-8 | Het. | FOXL2 | NM_023067.4 | missense | c.676G > A | p.A226T | 0 | D/D/P/D/D |
| POI-9 | Het. | MCM9 | NM_017696.3 | missense | c.2488G > A | p.A830T | 0.00002173 | B/T/P/T/T |
| POI-11 | Het. | FANCA | NM_000135.4 | missense | c.2340T > G | p.H780Q | 0 | D/D/P/T/T |
| POI-12 | Het. | ATM | NM_000051.4 | missense | c.2367C > G | p.N789K | 0 | B/T/P/T/T |
| POI-14 | Het. | EIF2B2 | NM_014239.4 | missense | c.76G > A | p.G26S | 0.000008134 | D/T/D/T/D |
| c.922G > A | p.V308M | 0.000008122 | D/D/D/D/D | |||||
| POI-17 | Het. | EIF2B3 | NM_020365.5 | missense | c.389T > C | p.M130T | 0.00003656 | B/T/D/D/T |
| POI-18 | Het. | FOXL2 | NM_023067.4 | missense | c.118G > C | c.G118C | 0.00001754 | D/T/P/T/D |
| POI-21 | Het. | BNC1 | NM_001717.4 | missense | c.1703A > T | p.D568V | 0.0003 | D/T/D/D/D |
| missense | c.1574T > C | p.L525P | 0.0006 | D/D/D/D/D | ||||
| POI-23 | Het. | GHR | NM_000163.5 | missense | c.282G > A | p.W94X | 0 | −/−/D/D/T |
| POI-24 | Het. | LRPPRC | NM_133259.4 | missense | c.7G > T | p.A3S | 0.0001 | D/D/D/D/D |
| c.2965C > T | p.R989C | 0.0005 | D/D/D/D/D |
Abbreviation: PolyPhen http://genetics.bwh.harvard.edu/pph2/. D: Probably damaging (> = 0.957), P: possibly damaging (0.453 < =pp2_hdiv<=0.956) B: benign (pp2_hdiv<=0.452), SIFT http://sift.bii.a-star.edu.sg/. D: Deleterious (sift<=0.05); T: tolerated (sift> 0.05), MutationTaster http://www.mutationtaster.org/. A” (“disease_causing_automatic”); “D” (“disease_causing”); “N” (“polymorphism”); “P” (“polymorphism_automatic”, CADD https://cadd.gs.washington.edu/download. D: Damaging; T: Tolerable, DANN https://cbcl.ics.uci.edu/public_data/DANN/. D: Damaging; T: Tolerable