Table 1 of
Zheng, Mol Vis 2021; 27:706-717. Table 1 of
Zheng, Mol Vis 2021; 27:706-717.
Table 1. Potential causative variants uncovered in 103 Chinese patients with nonsyndromic HM.
| Sample ID | Age | Sex | SEM (diopter) | AL(mm) | Gene | Exon | Mutation | Status | Type | GnomAD | EXAC | SIFT | Mutation Taster | Polyphen2 HDIV | Polyphen2 HVAR | PROVEAN |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HP10 | 18 | M | -10.50/-10.25 | 27.30/27.01 | AGRN | 15 | c.2627A>T (p.K876M) | Het | Missense | 4.07983e-06 | 0.000008 | D(0.001) | DC(0.999) | PD(1.000) | PD(1.000) | D(−5.32) |
| HP1033 | 43 | F | −6.00/-5.63 | 24.05/24.19 | AGRN | 15 | c.2627A>T (p.K876M) | Het | Missense | 4.07983e-06 | 0.000008 | D(0.001) | DC(0.999) | PD(1.000) | PD(1.000) | D(−5.32) |
| HP1042 | 41 | M | −6.13/-6.00 | 25.79/25.74 | AGRN | 27 | c.4787C>T (p.P1596L) | Het | Missense | 8.4354e-06 | 0.000009 | D(0.004) | DC(0.999) | PD(0.999) | PD(0.985) | D(−5.97) |
| HP1021 | 17 | M | −8.50/-8.50 | 27.46/27.50 | AGRN | 29 | c.5056G>A (p.G1686S) | Het | Missense | 3.24275e-05 | 0.000017 | D(0.008) | DC(1.000) | PD(1) | PD(0.993) | D(−4.72) |
| WH167 | 32 | F | −29.00/-30.00 | 36.79/35.84 | SLC39A5 | 6 | c.1023_1024insA (p.P342Tfs*41) | Het | Frameshift | Novel | Novel | - | DC(1.000) | - | - | - |
| S111 | 41 | F | −16.50/-19.59 | 27.76/27.95 | SLC39A5 | 9 | c.1350delC (p.V451Cfs*76) | Het | Frameshift | Novel | Novel | - | DC(1.000) | - | - | - |
| H381 | 48 | F | −21.75/-31.24 | 28.68/33.84 | SCO2 | 1 | c.244_246delAAG (p.K82del) | Het | Frameshift | 2.07952e-05 | 0.000017 | - | DC(0.966) | - | - | - |
| M78 | 72 | F | −22.38/NA | 30.36/30.73 | P4HA2 | 5 | c.545A>G (p.Y182C) | Het | Missense | 4.06095e-06 | 0.000008 | D(0.001) | DC(0.999) | PD(1.000) | PD(0.984) | D(−7.23) |
| M15 | 35 | F | −6.75/-17.38 | 25.88/31.25 | BSG | 2 | c.415C>T (p.P139S) | Het | Missense/Splicing | Novel | Novel | D(0.001) | DC(0.999) | P(0.797) | B(0.102) | N(−0.04) |
| HP15 | 23 | F | -10.50/-10.50 | 28.44/28.46 | ZNF644 | 4 | c.3266A>G (p.Y1089C) | Het | Missense | 9.69368e-05 | 0.000255 | D(0.000) | DC(0.999) | PD(0.999) | PD(0.982) | N(−2.24) |
| WH126 | 86 | F | −6.00/-0.75 | 25.36/22.48 | CPSF1 | 21 | c.2252C>T (p.S751L) | Het | Missense | 3.67929e-05 | 0.000027 | D(0.007) | DC(1.000) | P(0.915) | B(0.348) | D(−3.61) |
| WH091 | 68 | F | −27.75/-22.75 | 32.04/30.73 | CPSF1 | 17 | c.1708C>T (p.R570C) | Het | Missense | 8.12222e-06 | 0.000008 | D(0.045) | DC(0.999) | P(0.758) | P(0.601) | N(−1.93) |