Table 2 42 types of pathogenic genetic variants detected in this study
From: Clinical application value of expanded carrier screening in the population of childbearing age
Type | Genetic variants | Allele number (n, case) | Gene frequency (%) |
|---|---|---|---|
1 | SLC26A4: c.919-2A > G | 7 | 1.09 |
2 | GJB2: c.235delC(p.L79Cfs*3) | 6 | 0.94 |
3 | SMN1: EX7-8DEL | 6 | 0.94 |
4 | HBA1/HBA2: -α3.7 | 4 | 0.63 |
5 | ATP7B: c.2333G > T(p.R778L) | 3 | 0.47 |
6 | ATP7B: c.3316G > A(p.V1106I) | 3 | 0.47 |
7 | PAH: c.721C > T(p.R241C) | 3 | 0.47 |
8 | ATP7B: c.2621C > T(p.A874V) | 2 | 0.31 |
9 | ATP7B: c.588C > A(p.D196E) | 2 | 0.31 |
10 | CYP21A2: c.1069C > T(p.R357W) | 2 | 0.31 |
11 | CYP21A2: c.1451_1452delGGinsC(p.R484Pfs*58) | 2 | 0.31 |
12 | CYP21A2: c.293-13A/C > G | 2 | 0.31 |
13 | CYP21A2: CH-8 | 2 | 0.31 |
14 | GJB2: c.176_191del(p.G59Afs*18) | 2 | 0.31 |
15 | GJB2: c.299_300delAT(p.H100Rfs*14) | 2 | 0.31 |
16 | GJB2: g.20398370-20523823del | 2 | 0.31 |
17 | PAH: c.728G > A(p.R243Q) | 2 | 0.31 |
18 | SMN1: EX7DEL | 2 | 0.31 |
19 | FMR1: CGG repeats: 55 | 1 | – |
20 | ATP7B: c.2804C > T(p.T935M) | 1 | 0.16 |
21 | ATP7B: c.2975C > T(p.P992L) | 1 | 0.16 |
22 | ATP7B: c.3089G > A(p.G1030D) | 1 | 0.16 |
23 | CYP21A2: c.518 T > A(p.I173N) | 1 | 0.16 |
24 | GJB2: c.35dupG(p.V13Cfs*35) | 1 | 0.16 |
25 | GJB2: c.416G > A(p.S139N) | 1 | 0.16 |
26 | HBA2: c.369C > G(p.H123Q) | 1 | 0.16 |
27 | HBB: c.217dupA(p.S73Kfs*2) | 1 | 0.16 |
28 | MMACHCc.1A > G(p.M1?) | 1 | 0.16 |
29 | MMACHC: c.482G > A(p.R161Q) | 1 | 0.16 |
30 | MMACHC: c.609G > A(p.W203*) | 1 | 0.16 |
31 | MMACHC: c.80A > G(p.Q27R) | 1 | 0.16 |
32 | MMUT: c.729_730insTT(p.D244Lfs*39) | 1 | 0.16 |
33 | PAH: c.1238G > C(p.R413P) | 1 | 0.16 |
34 | PAH: c.482 T > C(p.F161S) | 1 | 0.16 |
35 | PAH: c.611A > G(p.Y204C) | 1 | 0.16 |
36 | PTS: c.259C > T(p.P87S) | 1 | 0.16 |
37 | PTS: c.286G > A(p.D96N) | 1 | 0.16 |
38 | SLC26A4: c.1229C > T(p.T410M) | 1 | 0.16 |
39 | SLC26A4: c.1520delT(p.L507*) | 1 | 0.16 |
40 | SLC26A4: c.1707 + 5G > A | 1 | 0.16 |
41 | SLC26A4: c.1975G > C(p.V659L) | 1 | 0.16 |
42 | SLC26A4: c.2168A > G(p.H723R) | 1 | 0.16 |