Table 2.
Candidate variants from whole exome sequencing.
| Position | Gene | Classification | Transcript | HGVS coding | dbSNP |
|---|---|---|---|---|---|
| Chr1: 13036736 | PRAMEF22 | Nonsyn SNV | NM_001100631 | c.808T>A | rs202011965 |
| Chr2: 179402104 | TTN | Nonsyn SNV | NM_003319 | c.72635G>A | — |
| Chr2: 179542464 | TTN | Nonsyn SNV | NM_133378 | c.30443C>T | — |
| Chr2: 179549988 | TTN | Nonsyn SNV | NM_133378 | c.28730C>T | rs146400809 |
| Chr2: 203395591 | BMPR2 | Nonsyn SNV | NM_001204 | c.1042G>A | rs201067849 |
| Chr3: 38607905 | SCN5A | Nonsyn SNV | NM_000335 | c.3832G>A | rs199473341 |
| Chr3: 38674698 | SCN5A | Nonsyn SNV | NM_000335 | c.101G>A | rs199473046 |
| Chr3: 132438619 | NPHP3 | Nonsyn SNV | NM_153240 | c.449C>T | rs142663818 |
| Chr7: 42064927 | GLI3 | Nonsyn SNV | NM_000168 | c.1292A>G | — |
| Chr9: 34506694 | DNAI1 | Nonsyn SNV | NM_012144 | c.1133A>T | — |
| Chr9: 97080945 | FAM22F | Del | NM_017561 | c.2071_2073delTCT | rs150455117 |
| Chr11: 1267969 | MUC5B | Nonsyn SNV | NM_002458 | c.9859A>C | — |
| Chr11: 1271591 | MUC5B | Nonsyn SNV | NM_002458 | c.13481A>C | rs201038498 |
| Chr11: 47356616 | MYBPC3 | Unknown | NM_000256 | c.2883C>T | — |
| Chr11: 126143258 | FOXRED1 | Frameshift Del | NM_017547 | c.445delC | — |
| Chr12: 58177067 | TSFM | Splicing | NM_001172695 | c.231+1_231+2delGT | — |
| Chr12: 112892433 | PTPN11 | Stop-gain | NM_002834 | c.591T>G | rs76982592 |
| Chr16: 1245007 | CACNA1H | Nonsyn SNV | NM_001005407 | c.335T>C | — |
| Chr16: 71061495 | HYDIN | Stop-loss | NM_017558 | c.3052T>C | rs146649547 |
| Chr16: 89815152 | FANCA | Nonsyn SNV | NM_000135 | c.3263C>T | rs17233497 |
| Chr21: 35821734 | KCNE1 | Nonsyn SNV | NM_001127670 | c.199C>T | rs199473645 |