Table 2 Detected heterozygous variants with high pathogenicity score in highly conserved regions in genes related to tooth development (n = 23)
From: Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
Pat. No. | Chroma | Start | End | Gene | Transcript ID | Aab change | Aab Position/Total length | Impact | GERP | CADD c-score |
|---|---|---|---|---|---|---|---|---|---|---|
1 | chr4 | 99,960,545 | 99,960,546 | METAP1 | ENST00000296411 | A/V | 121/386 | Missense variant | 4.94000005722 | 23.1 |
1 | chr9 | 98,220,506 | 98,220,507 | PTCH1 | ENST00000331920 | D/Y | 986/1447 | Missense variant | 3.32999992371 | 26.4 |
2 | chr7 | 42,005,900 | 42,005,901 | GLI3 | ENST00000395925 | A/T | 924/1580 | Missense variant | 4.84999990463 | 32.0 |
2 | chr1 | 208,227,830 | 208,227,831 | PLXNA2 | ENST00000367033 | R/C | 931/1894 | Missense variant | 5.38000011444 | 32.0 |
2 | chr14 | 95,582,934 | 95,582,935 | DICER1 | ENST00000343455 | R/H | 536/1922 | Missense variant | 5.11999988556 | 34.0 |
3 | chr2 | 17,997,866 | 17,997,867 | MSGN1 | ENST00000281047 | D/Y | 28/193 | Missense variant | 4.71999979019 | 25.3 |
3 | chr12 | 99,120,953 | 99,120,954 | APAF1 | ENST00000339433 | W/R | 1069/1163 | Missense variant | 5.25 | 26.9 |
3 | chr12 | 56,486,591 | 56,486,592 | ERBB3 | ENST00000267101 | R/W | 391/1342 | Missense variant | 4.23000001907 | 34.0 |
5 | chr1 | 120,468,377 | 120,468,378 | NOTCH2 | ENST00000256646 | G/A | 1354/2471 | Missense variant | 5.84000015259 | 24.9 |
5 | chr1 | 202,742,409 | 202,742,414 | KDM5B | ENST00000367264 | LV/X | 136–137/1580 | Frameshift variant | 5.78999996185 | None |
6 | chr6 | 106,536,187 | 106,536,188 | PRDM1 | ENST00000369091 | A/D | 16/789 | Missense variant | 5.80000019073 | 21.3 |
6 | chr1 | 120,496,273 | 120,496,274 | NOTCH2 | ENST00000256646 | N/D | 753/2471 | Missense variant | 5.98999977112 | 23.3 |
6 | chr3 | 185,797,885 | 185,797,886 | ETV5 | ENST00000306376 | D/H | 124/510 | Missense variant | 5.32000017166 | 24.5 |
6 | chr4 | 20,555,444 | 20,555,445 | SLIT2 | ENST00000273739 | P/R | 864/1542 | Missense variant | 5.11999988556 | 31.0 |
6 | chr14 | 35,786,486 | 35,786,487 | PSMA6 | ENST00000261479 | L/R | 239/246 | Missense variant | 5.21000003815 | 32.0 |
7, 8 | chr3 | 50,211,278 | 50,211,279 | SEMA3F | ENST00000002829 | D/Y | 56/785 | Missense variant | 5.25 | 25.2 |
9 | chr7 | 55,249,011 | 55,249,012 | EGFR | ENST00000275493 | D/E | 770/1210 | Missense variant | 5.84999990463 | 21.7 |
9 | chr7 | 34,101,629 | 34,101,630 | BMPER | ENST00000297161 | R/T | 350/685 | Missense variant | 5.17999982834 | 22.8 |
9 | chr5 | 31,521,293 | 31,521,294 | DROSHA | ENST00000344624 | R/G | 295/1374 | Missense variant | 6.17000007629 | 23.3 |
10 | chr5 | 102,361,028 | 102,361,029 | PAM | ENST00000274392 | A/P | 796/875 | Missense variant | 4.86999988556 | 24.6 |
10 | chr3 | 48,698,790 | 48,698,791 | CELSR3 | ENST00000164024 | R/H | 426/3312 | Missense variant | 5.82999992371 | 27.0 |
10 | chr12 | 56,490,960 | 56,490,961 | ERBB3 | ENST00000267101 | R/W | 803/1342 | Missense variant | 3.68000006676 | 34.0 |
10 | chr6 | 36,177,587 | 36,177,589 | BRPF3 | ENST00000339717 | E/a | 588/935 | Stop gained | 5.92000007629 | 42.0 |