Table 4 Results of de novo, homozygous, compound heterozygous, and hemizygous variants.
Case | Gene | Variant | Coordinate | Amino Acids | Zygosity | Heredity | Genetic phenotype | Inheritance | SIFT | PolyPhen-2 | dbSNP ID | ToMMo frequency | HGVD frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | DRD5 | T > T/C | 9,784,617 | Cys322Arg | Heterozygote | De novo | Blepharospasm, ADHD | AD | Deleterious (0) | Probably damaging (1) | – | N.R | N.R |
2 | COL5A1 | G > G/A | 137,712,023 | Arg1503His | Heterozygote | De novo | Ehlers–Danlos syndrome | AD | – | Unknown (0) | rs373653069 | N.R | N.R |
ZFHX3 | A > A/C | 72,821,636 | Ser3513Arg | Heterozygote | De novo | Prostate cancer | – | – | Unknown (0) | – | N.R | N.R | |
CD209 | C > C/T | 7,810,559 | Arg198Gln | Heterozygote | De novo | HIV type 1 susceptibility | – | Tolerated (1) | Benign (0.001) | rs41374747 | N.R | N.R | |
CCKBR | G > A/A | 6,292,693 | Asp422Asn | Homozygote | Both | pancreatic/gastric cancer | – | Tolerated (0.08) | Benign (0.002) | rs746523028 | 5/9544 | 2/2418 | |
RGMA | G > A/A | 93,595,452 | Ser147Leu | Homozygote | Both | Oral squamous cell carcinoma | – | Tolerated (0.25) | Probably Damaging (0.998) | rs200825597 | 8/9540 | 2/2418 | |
DOCK6 | C > T/T | 11,356,294 | Arg323His | Homozygote | Both | Adams–Oliver syndrome 2 | AR | Tolerated (0.05) | Probably damaging (0.911) | rs188066183 | 4/9546 | 2/2310 | |
3 | OPTC | T > T/G | 203,466,112 | Val80Gly | Heterozygote | De novo | High myopia | – | Tolerated (0.1) | Benign (0.013) | – | N.R | N.R |
PRKDC | G > G/A | 48,771,471 | Arg2095Cys | Heterozygote | De novo | Immunodeficiency | AR | – | – | rs8178147 | N.R | N.R | |
4 | OBSCN | G > G/A | 228,412,409 | Arg1060Gln | Heterozygote | Mother | Cardiomyopathy | – | – | Benign (0.037) | rs766325064 | 5/9546 | N.R |
OBSCN | G > G/A | 228,509,310 | Ser5880Asn | Heterozygote | Father | Cardiomyopathy | – | – | Probably damaging (0.997) | rs765727329 | 3/9546 | N.R | |
5 | KIR2DL4 | G > G/A | 55,316,398 | Arg76Lys | Heterozygote | Father | – | – | – | – | – | N.R | N.R |
KIR2DL4 | C > C/A | 55,317,489 | Gln149Lys | Heterozygote | Ambiguous | – | – | – | – | rs796139593 | N.R | N.R | |
KIR2DL4 | A > A/G | 55,317,490 | Gln149Arg | Heterozygote | Ambiguous | – | – | – | – | rs746343340 | N.R | N.R | |
KIR2DL4 | G > G/A | 55,317,528 | Glu162Lys | Heterozygote | Ambiguous | – | – | – | – | rs540514355 | N.R | N.R | |
KIR2DL4 | A > A/G | 55,317,529 | Glu162Gly | Heterozygote | Ambiguous | – | – | – | – | rs796093143 | N.R | N.R | |
KIR2DL4 | T > T/C | 55,317,541 | Leu166Pro | Heterozygote | Ambiguous | – | – | – | – | rs112694450 | N.R | N.R | |
KIR2DL4 | A > A/G | 55,317,564 | Ile174Val | Heterozygote | Ambiguous | – | – | – | – | rs200435373 | N.R | N.R | |
6 | ZFHX3 | A > A/C | 72,821,636 | Ser3513Arg | Heterozygote | De novo | Prostate cancer | – | – | Unknown (0) | – | N.R | N.R |
KMT5A | T > T/C | 123,892,078 | Leu296Pro | Heterozygote | De novo | Malignant tumor of prostate | – | Deleterious (0) | Probably damaging (1) | – | N.R | N.R | |
7 | PIEZO2 | T > T/G | 10,682,254 | Lys2398Asn | Heterozygote | Father | Arthrogryposis, Marden–Walker syndrome | AD, AR | Deleterious (0) | Probably damaging (0.919) | – | N.R | N.R |
PIEZO2 | T > T/C | 10,770,217 | Met934Val | Heterozygote | Mother | Arthrogryposis, Marden–Walker syndrome | AD, AR | Tolerated (1) | Benign (0) | – | 2/9546 | N.R | |
HCCS | G > T/T | 11,139,865 | Ala248Ser | Hemizygote | Mother | Linear Skin Defects with Multiple Congenital Anomalies 1 | XLD | Deleterious (0) | Probably damaging (0.996) | rs201692478 | 3/7412 | 2/2418 | |
PHKA1 | A > G/G | 71,830,918 | Ile829Thr | Hemizygote | Mother | Muscle glycogenosis | XLR | Tolerated (0.6) | Benign (0.023) | – | N.R | N.R |
