Table 2.
Genotype Summary of Patients
| Variant cDNA Change | Variant Protein Change | Variant Type | Domain | Cases, n |
|---|---|---|---|---|
| c.52G>A | — | Splicing | LS | 1 |
| c.53-1G>A | — | Splicing | LS | 1 |
| c.96delC | p.W33Gfs*93 | Small deletion | RS1 domain | 1 |
| c.214G>A | p.E72K | Missense | Discoidin domain | 4 |
| c.223G>T | p.E75X | Nonsense | Discoidin domain | 1 |
| c.240G>C | p.Q80H | Missense | Discoidin domain | 1 |
| c.267T>A | p.Y89X | Nonsense | Discoidin domain | 1 |
| c.304C>T | p.R102W | Missense | Discoidin domain | 1 |
| c.327-2A>G | — | Splicing | Discoidin domain | 1 |
| c.335G>A | p.W112X | Nonsense | Discoidin domain | 1 |
| c.336G>A | p.W112X | Nonsense | Discoidin domain | 1 |
| c.336_337insT | p.L113Sfs*8 | Insertions | Discoidin domain | 2 |
| c.400T>C | p.S134P | Missense | Discoidin domain | 1 |
| c.451T>C | p.Y151H | Missense | Discoidin domain | 2 |
| c.489delG | p.W163X | Small deletion | Discoidin domain | 1 |
| c.512G>A | p.G171E | Missense | Discoidin domain | 1 |
| c.544C>T | p.R182C | Missense | Discoidin domain | 1 |
| c.579delC | p.I194Sfs*43 | Small deletion | Discoidin domain | 1 |
| c.590G>A | p.R197H | Missense | Discoidin domain | 2 |
| c.598C>T | p.R200C | Missense | Discoidin domain | 1 |
| c.608C>T | p.P203L | Missense | Discoidin domain | 2 |
| c.637C>T | p.R213W | Missense | Discoidin domain | 4 |
| c.638G>A | p.R213Q | Missense | Discoidin domain | 1 |
| Exon 2 del | — | Deletion | RS1 domain | 1 |
| Exon 2-3 del | — | Deletion | RS1 domain | 1 |
| Exon 3 del | — | Deletion | RS1 domain | 1 |
| Exon 4-5 del | — | Deletion | Discoidin domain | 1 |
LS, leader sequence.