Table 1 of
Zhou, Mol Vis 2018; 24:560-573. Table 1 of
Zhou, Mol Vis 2018; 24:560-573.
Table 1. Pathogenic mutations of COL2A1 or COL11A1 detected in the 12 probands with eoHM.
| Gene | Patient | Position | Exon/ | Nucleotide | Amino Acid | Status | Computational Prediction | dbSNP | Novel or | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ID | Chr | Position | Intron | variant | Change | PPH2/BDGP | SIFT | Reported | |||
| COL2A1 | HM992 | chr12 | 48,380,410 | Exon 45 | c.3138delT | p.P1046fs | Het | / | / | rs121912873 | Novel |
| HM304 | chr12 | 48,380,792 | IVS 44 | c.3111+1G>A | / | Het | DL | / | None | Reported | |
| HM894 | chr12 | 48,380,855 | Exon 44 | c.3049delG | p.G1017fs | Het | / | / | None | Novel | |
| HM862 | chr12 | 48,372,481 | Exon 42 | c.2794C>T | p.R932* | Het | / | / | rs121912866 | Reported | |
| HM918 | chr12 | 48,375,892 | Exon 33 | c.2128C>T | p.R785* | Het | / | / | None | Reported | |
| HM842 | chr12 | 48,377,504 | Exon 30 | c.1957C>T | p.R653* | Het | / | / | rs121912893 | Reported | |
| HM951 | chr12 | 48,377,504 | Exon 30 | c.1957C>T | p.R653* | Het | / | / | rs121912893 | Reported | |
| HM849 | chr12 | 48,378,777 | IVS 27 | c.1833+1G>A | / | Het | SSA | / | None | Reported | |
| HM1000 | chr12 | 48,379,358 | Exon 26 | c.1693C>T | p.R565C | Het | PrD | D | rs121912884 | Reported | |
| HM820 | chr12 | 48,380,672 | IVS 21 | c.1366–1G>C | / | Het | SSA | / | None | Reported | |
| COL11A1 | HM813 | chr01 | 103,355,027 | Exon 59 | c.4484G>A | p.G1495E | Het | PrD | D | None | Reported |
| HM878 | chr01 | 103,385,883 | Exon 49 | c.3782G>T | p.G1261V | Het | PrD | D | None | Reported | |