Table 3.
Variants identified by WES
| # of affecteds containing variant by WES | # of unaffecteds containing variant by WES | Chr | Position | Gene | Transcript ID | Transcript Variant | Amino acid change | dbSNP ID | gnom AD MAF (%) | SIFT/PolyPhen-2 Function Prediction | Confirmed by Sanger sequencing to be present in 6 of 6 affected and 0 of 4 unaffecteds? | If confirmed by Sanger sequencing, does variant segregate in 3 additional family members? |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 6 of 6 | 0 of 4 | 10 | 117374346 | PDZD8 | NM_17379 1.4 | c.872+10A>T | - | rs201808439 | 0.006 | - | Yes | Yes |
| 6 of 6 | 0 of 4 | 18 | 21505785 | GREB1L | NM_00114 2966.2 | c.4229-25T>C | - | rs775835476 | 0.004 | - | Yes | No |
| 5 of 6 | 0 of 4 | 1 | 248145920 | OR2M5 | NM_00100 4690.1 | c.773T>C | p.M258T | rs146014040 | 0.056 | Activating/Benign | Yes | Yes |
| 5 of 6 | 0 of 4 | 5 | 194925 | LRRC14B | NM_00108 0478.2 | c.1117 G>A | p.V373I | rs200063605 | 0.077 | Tolerated/Benign | No | - |
| 5 of 6 | 0 of 4 | 5 | 10280458 | CMBL | NM_13880 9.3 | c.733A>C | p.M245L | rs182773279 | 0.086 | Tolerated/Benign | No | - |
| 5 of 6 | 0 of 4 | 7 | 150692529 | GIMAP2 | NM_01566 0.2 | c.243G>A | p.M81I | rs927523889 | - | Activating/Benign | No | - |
| 5 of 6 | 0 of 4 | 8 | 8702651 | CLDN23 | NM_19428 4.2 | c.253G>A | p.V85I | rs372410779 | 0.005 | Tolerated/Benign | No | - |
| 5 of 6 | 0 of 4 | 10 | 17796225 | TMEM236 | NM_00109 8844.2 | c.777C>A | p.N259K | rs1001234857 | 0.037 | Tolerated/Benign | No | - |
| 5 of 6 | 0 of 4 | 10 | 119169326 | PRDX3 | NM_00679 3.4 | c.568G>C | p.D190H | None | - | Damaging/Prob. Dama. | Yes | Yes |
| 5 of 6 | 0 of 4 | 18 | 23784125 | LAMA3 | NM_00112 7717.2 | c.1571 G>A | p.R524H | rs201845068 | 0.036 | None/Poss. Damaging | Yes | No |
| 6 of 6 | 1 of 4 | 1 | 226736078 | ITPKB | NM_00222 1.3 | c.1381C>T | p.P461S | rs35823273 | 0.396 | Tolerated/Benign | No | - |
| 6 of 6 | 1 of 4 | 7 | 74120997 | LIMK1 | NM_00231 4.3 | c.1729C>T | p.P577S | rs147218553 | 0.018 | Tolerated/Benign | No | - |
| 6 of 6 | 1 of 4 | 7 | 76482982 | DTX2 | NM_00110 2596.1 | c.743A>G | p.N248S | rs145151450 | 0.314 | Tolerated/Benign | No | - |