Table 1. List of all protein-altering DNMs identified in the present study.
VUS, the variant with uncertain significance. NA, not available.
| Proband ID | Position | Mutation |
Gene
symbol |
Mutation type |
Protein
change |
SIFT |
Polyphen2
HDIV |
CADD | Classification |
| WOC5_160_1 | 18:31324188 | GC > G | ASXL3 | Frameshift deletion |
p.F1460Lfs*5 | NA | NA | 35 | Damaging |
| WOC3_114_1_PT | 6:29912028 | AGG > AG | HLA-A | Frameshift deletion |
p.D251Tfs*45 | NA | NA | 32 | Damaging |
| WOC5_137_1 | 1:109242401 | CAAATAAA>CAAA | PRPF38B | Frameshift deletion |
p.K324Efs*59 | NA | NA | 34 | Damaging |
| WOC5_26 | 2:114482963 | CA > C | SLC35F5 | Frameshift deletion |
p.L408Rfs*11 | NA | NA | 35 | Damaging |
| WOC5_160_1 | 19:16611793 | CT > CTT | C19orf44 | Frameshift insertion |
p.K65Efs*15 | NA | NA | 14.66 | Damaging |
| WOC5_6 | 19:2939254 | AGTGAGGGAATGACA CCACCCTTACCCAAG GAGGCA>A |
ZNF77 | Splice-site mutation (frameshift deletion) |
p.A41Lfs*5 | NA | NA | 16.62 | Damaging |
| WOC5_160_1 | 3:49713641 | C > T | APEH | Nonsense | p.Q199X | NA | NA | 35 | Damaging |
| WOC4_28 | 13:32937534 | T > G | BRCA2 | Nonsense | p.L2732X | NA | NA | 39 | Damaging |
| WOC5_102_1 | 14:20779873 | G > A | CCNB1IP1 | Nonsense | p.R224X | NA | NA | 37 | Damaging |
| WOC4_34 | 4:47427852 | C > G | GABRB1 | Nonsense | p.Y414X | NA | NA | 27 | Damaging |
| WOC4_165_1 | 6:39286844 | C > T | KCNK16 | Nonsense | p.W93X | NA | NA | 43 | Damaging |
| WOC4_170_1 | 22:25320164 | C > T | SGSM1 | Nonsense | p.R1008X | NA | NA | 46 | Damaging |
| WOC84 | 1:118616533 | G > A | SPAG17 | Missense | p.R777C | D | D | 29.5 | Damaging |
| WOC4_170_1 | X:51640699 | C > T | MAGED1 | Missense | p.R515C | D | D | 28.9 | Damaging |
| WOC5_157_1 | 5:137722015 | A > G | KDM3B | Missense | p.E362G | D | D | 28.6 | Damaging |
| WOC5_096_1 | 17:19284412 | A > G | MAPK7 | Missense | p.Y158C | D | D | 27.5 | Damaging |
| WOC5_62 | 1:36479519 | C > T | AGO3 | Missense | p.R192W | D | D | 27.4 | Damaging |
| WOC5_178_1 | 3:142741802 | C > G | U2SURP | Missense | p.P376A | D | D | 25.9 | Damaging |
| WOC4_130_1_WY | 3:9476069 | C > T | SETD5 | Missense | p.R77C | D | D | 24.6 | Damaging |
| WOC5_093_1 | 17:18195985 | G > C | TOP3A | Missense | p.P324A | D | D | 25.2 | Damaging |
| WOL3_046_1_ZXY | 19:58438675 | C > T | ZNF418 | Missense | p.G207R | D | D | 21.7 | Damaging |
| WOC5_093_1 | 1:206648328 | C > T | IKBKE | Missense | p.R32C | D | D | 28.8 | Damaging |
| WOC5_099_1 | 4:142949945 | G > T | INPP4B | Missense | p.A922D | D | D | 25.7 | Damaging |
| WOC5_149_1 | 8:131072874 | G > A | ASAP1 | Missense | p.T1048M | D | D | 24.5 | Damaging |
| WOC5_17 | 2:71817395 | C > T | DYSF | Missense | p.A1152V | D | P | 27.9 | VUS |
| WOC5_164_1 | 12:96617430 | A > T | ELK3 | Missense | p.N29I | D | P | 25 | VUS |
| WOC5_4F | 13:76381720 | G > T | LMO7 | Missense | p.R201L | D | P | 23.2 | VUS |
| WOC5_097_1 | 3:38595773 | C > T | SCN5A | Missense | p.V1586M | D | P | 23.1 | VUS |
| WOC5_130_1 | 20:33594249 | T > C | TRPC4AP | Missense | p.T606A | T | P | 25.9 | VUS |
| WOC5_161_1 | X:123519751 | G > A | TENM1 | Missense | p.T1944I | D | B | 23.6 | VUS |
| WOC5_155_1 | 11:62416110 | A > G | INTS5 | Missense | p.V481A | D | B | 23.5 | VUS |
| WOC5_078_1_X | 15:41810235 | C > T | RPAP1 | Missense | p.S1314N | T | B | 22 | VUS |
| WOC5_60 | 16:68225447 | A > G | NFATC3 | Missense | p.T959A | D | B | 21.7 | VUS |
| WOC5_091_1 | 6:32123547 | G > A | PPT2 | Missense | p.M140I | D | B | 20.8 | VUS |
| WOC5_076_1_WSH | 14:91928489 | T > C | PPP4R3A | Missense | p.M451V | T | B | 20.4 | VUS |
| WOC5_15 | 17:40149144 | T > C | DNAJC7 | Missense | p.S38G | T | B | 19.65 | VUS |
| WOC5_4F | 3:102157378 | C > T | ZPLD1 | Missense | p.P32L | T | B | 18.89 | VUS |
| WOC5_094_1 | 19:47207624 | G > A | PRKD2 | Missense | p.P74S | T | B | 16.23 | VUS |
| WOC5_138_1 | 19:36223863 | C > T | KMT2B | Missense | p.P2138L | D | P | 15.46 | VUS |
| WOC5_116_1 | 19:57036758 | G > A | ZNF471 | Missense | p.S367N | D | B | 15.06 | VUS |
| WOC5_152_1 | 12:113759149 | C > T | SLC8B1 | Missense | p.R54H | T | B | 14.72 | VUS |
| WOC5_39 | 2:217012900 | C > T | XRCC5 | Missense | p.T524I | T | B | 14.16 | VUS |
| WOC5_39 | 9:125551863 | A > C | OR5C1 | Missense | p.I218L | T | B | 12.96 | VUS |
| WOC5_084_1_PS | 6:151671185 | T > A | AKAP12 | Missense | p.D455E | T | B | 6.24 | VUS |
| WOC5_150_1 | 18:76753591 | G > C | SALL3 | Missense | p.V534L | T | B | 0.008 | VUS |
| WOC5_091_1 | X:114468473 | CCCGCCGCCGCCGCCGCC> CCCGCCGCCGCCGCC |
LRCH2 | Nonframeshift deletion |
p.G44del | NA | NA | 16.51 | VUS |