List of the 6 novel homozygous variants shared by the affected patients
| Gene . | Chr:position (hg18) . | Base change . | Effect on protein . | PhyloP . | Child 1 . | Child 2 . | Mother . | Father . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Het/Hom . | No. of reads . | Het/Hom . | No. of reads . | Het/Hom . | No. of reads . | Het/Hom . | No. of reads . | |||||||||
| Ref. allele . | Non-ref. allele . | Ref. allele . | Non-ref. allele . | Ref. allele . | Non-ref. allele . | Ref. allele . | Non-ref. allele . | |||||||||
| MSH6 | 2:47 887 113 | +A | E1276X | 7.049 | Hom | 2 | 26 | Hom | 0 | 15 | Het | 5 | 4 | Het | 7 | 5 |
| GBA | 1:153 474 994 | C > T | D137N | 4.324 | Hom | 0 | 93 | Hom | 0 | 16 | Het | 19 | 10 | Het | 15 | 12 |
| MUC1 | 1:153 426 376 | G > C | P152A | 0.546 | Hom | 0 | 161 | Hom | 0 | 115 | Het | 50 | 55 | Het | 60 | 53 |
| C2orf63 | 2:55 298 565 | G > A | T84I | −0.388 | Hom | 0 | 64 | Hom | 0 | 44 | Het | 36 | 37 | Hom | 0 | 77 |
| MAGEC1 | X:140 821 611 | T > C | F252S | −2.819 | Hom | 0 | 16 | Hom | 0 | 13 | Hom | 0 | 12 | Hemi | 0 | 3 |
| MAGEC1 | X:140 821 613 | T > C | S253P | −0.978 | Hom | 0 | 17 | Hom | 0 | 12 | Hom | 0 | 11 | Hemi | 0 | 3 |
| Gene . | Chr:position (hg18) . | Base change . | Effect on protein . | PhyloP . | Child 1 . | Child 2 . | Mother . | Father . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Het/Hom . | No. of reads . | Het/Hom . | No. of reads . | Het/Hom . | No. of reads . | Het/Hom . | No. of reads . | |||||||||
| Ref. allele . | Non-ref. allele . | Ref. allele . | Non-ref. allele . | Ref. allele . | Non-ref. allele . | Ref. allele . | Non-ref. allele . | |||||||||
| MSH6 | 2:47 887 113 | +A | E1276X | 7.049 | Hom | 2 | 26 | Hom | 0 | 15 | Het | 5 | 4 | Het | 7 | 5 |
| GBA | 1:153 474 994 | C > T | D137N | 4.324 | Hom | 0 | 93 | Hom | 0 | 16 | Het | 19 | 10 | Het | 15 | 12 |
| MUC1 | 1:153 426 376 | G > C | P152A | 0.546 | Hom | 0 | 161 | Hom | 0 | 115 | Het | 50 | 55 | Het | 60 | 53 |
| C2orf63 | 2:55 298 565 | G > A | T84I | −0.388 | Hom | 0 | 64 | Hom | 0 | 44 | Het | 36 | 37 | Hom | 0 | 77 |
| MAGEC1 | X:140 821 611 | T > C | F252S | −2.819 | Hom | 0 | 16 | Hom | 0 | 13 | Hom | 0 | 12 | Hemi | 0 | 3 |
| MAGEC1 | X:140 821 613 | T > C | S253P | −0.978 | Hom | 0 | 17 | Hom | 0 | 12 | Hom | 0 | 11 | Hemi | 0 | 3 |
MSH6 indicates mutS homolog 6 (NM_000179); GBA, glucosidase beta (NM_00157, GBA accession number is NG_009783.1); MUC1, mucin 1 (NM_001044393); C2orf63, chromosome 2 open reading frame 63 (NM_152385); MAGEC1, melanoma antigen family C, 1 (NM_005462); Het, heterozygous; Hom, homozygous; and Hemi, hemizygous.