Table 2 Pathogenic/likely pathogenic variants identified in this study.
No | Gene | RSID | Genome changes | Amino acid change | Types of changes | Pathogenicity |
|---|---|---|---|---|---|---|
1 | RIPK1 | rs116040763 | NC_000006.12:g.3113257C>T | NP_001341859.1:p.Thr645Met | Missense variant | Pathogenic |
2 | SLCO1B1 | rs200994482 | NC_000012.12:g.21224840G>A | NA | Splice donor variant | Pathogenic |
3 | ACADSB | rs779015128 | NC_000010.11:g.123043110delC | NP_001317103.1:p.Pro147fs | Frame shift | Pathogenic |
4 | TCF4 | rs587784464 | NC_000018.10:g.55350904G>A | NP_001356514.1:p.Arg132Ter | Stop gained | Pathogenic |
5 | HCP5 | rs2395029 | NC_000006.12:g.31464003Â T>G | NR_040662.1 | Non coding transcript variant | Pathogenic; risk factor |
6 | KAT6A | rs139494583 | NC_000008.10:g.41792077C > T | NP_006757.2:p.Glu1221Lys | Missense variant | Pathogenic |
7 | MOCOS | rs750896617 | NC_000018.10:g.36260092C > T | NP_060417.4:p.Arg776Cys | Missense Variant | Pathogenic |
8 | SRD5A2 | rs9332964 | NC_000002.12:g.31529325C>T | NP_000339.2:p.Arg227Gln | Missense variant | Pathogenic/likely pathogenic |
9 | CUBN | rs143944436 | NC_000010.11:g.16940152G>A | NP_011518011.1:p.Arg1810Ter | Stop gained | Pathogenic/likely pathogenic |
10 | MCCC2 | rs119103221 | NC_000005.10:g.71635176C>G | NP_001350076.1:p.Pro272Arg | Missense variant | Pathogenic |
11 | GJB2 | rs80338943 | NC_000013.11:g.20189349del | NP_003995.2:p.Leu79fs | Frame shift | Pathogenic |
12 | TACR3 | rs764659822 | NC_000004.12:g.103658260G>A | NP_001050.1:p.Thr231Ile | Missense Variant | Likely pathogenic |
13 | PRNP | rs1799990 | NC_000020.11:g.4699605A > G | NP_001073590.1:p.Met129Val | Missense variant | Pathogenic/risk factor/likely benign |
14 | DCC | rs775565634 | NC_000018.10:g.53339808G>A | NP_005206.2:p.Val754Met | Missense variant | Pathogenic |
15 | GJB2 | rs111033204 | NC_000013.11:g.20189282_20189283del | NP_003995.2:p.His100fs | Frame shift | Pathogenic |
16 | LOC107987057 | rs2814707 | NC_000009.12:g.27536399C>T | Â | Non coding transcript variant intron variant | Uncertain significance |
17 | ZGRF1 | rs61745597 | NC_000004.12:g.112623837G > T | NP_060862.3:p.Leu48Met | Missense variant | Benign |
18 | FAM98C | rs201037487 | NC_000019.10:g.38407003C>T | NP_777565.3:p.Arg282Ter | Stop gained | Likely pathogenic |
19 | ZGRF1 | rs76187047 | NC_000004.11:g.113506711C>T | NP_060862.3:p.Glu1363Lys | Missense variant | Benign |
20 | SCN9A | rs12478318 | NC_000002.12:g.166277030Â T>G | NP_002968.1:p.Met932Leu | Missense Variant | Uncertain significance |
21 | PRKN | rs751037529 | NC_000006.12:g.161785793C>G | NP_004553.2:p.Gly284Arg | Missense variant | Pathogenic |
22 | SLC3A1 | rs200483989 | NC_000002.12:g.44286074C>T | NP_000332.2:p.Arg270Ter | Stop gained | Pathogenic |
23 | PYGM | rs114073621 | NC_000011.10:g.64751346G>A | NP_005600.1:p.Arg650Ter | Stop gained | Pathogenic |