Table 3. Potentially causative variants in SUDS.
| Gene | CHR | POS | rsID | REF | ALT | MetaSVM | Effect | 1000G | ExAC | ESP | THAI | StudyID | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NEXN | 1 | 78383329 | rs200345240 | G | A | D | p.Glu36Lys | 0.0002 | 0.00002 | - | - | 20 |
| 2 | TNNT2 | 1 | 201331239 | - | G | A | - | p.Ala192Val | - | - | - | - | 18 |
| 3 | RYR2 | 1 | 237754226 | rs373261115 | C | T | D | p.Ala1365Val | 0.0016 | 0.0003 | 0.00008 | 0.0093 | 25 |
| 4 | TTN | 2 | 179418854 | rs187460377 | C | T | D | p.Gly29662Ser | 0.0002 | 0.0002 | 0.00008 | - | 29 |
| 5 | TTN | 2 | 179426553 | - | C | A | D | p.Trp28102Cys | - | - | - | - | 19 |
| 6 | TTN | 2 | 179438185 | rs55992239 | G | A | D | p.Pro22584Leu | 0.0002 | 0.00007 | 0.0002 | 0.0038 | 18 |
| 7 | TTN | 2 | 179484555 | rs371299188 | C | A | D | p.Val13856Phe | 0.0006 | 0.0001 | - | - | 39, 42 |
| 8 | TTN | 2 | 179629493 | rs55634230 | A | C | D | p.Val3250Gly | 0.0004 | 0.00006 | - | - | 10, 35 |
| 9 | TTN | 2 | 179640850 | rs374203813 | G | A | D | p.Ala1914Val | 0.0002 | 0.00002 | - | - | 2 |
| 10 | SCN5A | 3 | 38662409 | - | C | T | D | p.Arg179Gln | - | 0.00003 | - | - | 17 |
| 11 | DSP | 6 | 7580187 | - | G | C | D | p.Arg1255Thr | - | 0.00002 | - | - | 15 |
| 12 | KCNH2 | 7 | 150644474 | rs373394254 | G | A | D | p.Arg1032Trp | 0.0004 | - | - | - | 17 |
| 13 | KCNH2 | 7 | 150646128 | - | T | G | D | p.Asp463Ala | - | - | - | - | 42 |
| 14 | KCNH2 | 7 | 150649611 | rs562875924 | C | T | D | p.Gly487Ser | 0.0004 | 0.00006 | - | - | 38 |
| 15 | CACNB2 | 10 | 18828275 | - | AG | A | - | frameshift | - | - | - | - | 38 |
| 16 | CACNB2 | 10 | 18828310 | rs377657305 | G | A | D | p.Arg492His | 0.0004 | 0.00008 | 0.0002 | - | 13 |
| 17 | RBM20 | 10 | 112590879 | rs371181124 | C | T | D | p.Thr1171Met | - | - | 0.0002 | - | 40 |
| 18 | BAG3 | 10 | 121429499 | - | G | A | D | p.Arg106Gln | - | - | - | - | 26 |
| 19 | KCNQ1 | 11 | 2591954 | - | C | T | D | p.Arg192Cys | - | 0.00003 | - | - | 15 |
| 20 | KCNQ1 | 11 | 2869129 | rs1800172 | G | A | D | p.Gly516Ser | 0.0166 | 0.0167 | 0.0069 | - | 32 |
| 21 | ILK | 11 | 6621766 | rs142644288 | G | A | - | p.Arg401* | - | 0.00003 | 0.00008 | - | 2 |
| 22 | MYBPC3 | 11 | 47364415 | - | A | T | D | p.Cys475Ser | - | - | - | - | 13 |
| 23 | CACNA1C | 12 | 2675634 | rs371702432 | G | A | D | p. Ala519Thr | - | 0.00006 | 0.00008 | - | 42 |
| 24 | MYH7 | 14 | 23891399 | rs192722540 | G | A | D | p.Arg1079Trp | 0.0004 | 0.00005 | - | - | 10 |
| 25 | TPM1 | 15 | 63353987 | - | G | GTACTCTCAGAAGGAAGACAAATATGAAGAGGAGATCAAGGTTCTCTCTGACAAGCTGAAGGAGGCTGAAACTC | - | splice variant | - | - | - | 0.018 | 11 |
| 26 | TPM1 | 15 | 63354780 | - | G | GAAGTACTCTCAGAAGGAAGACAAATATGAAGAGGAGATCAAGGTTCTCTCTGACAAGCTGAAGGAGGCTGAA | - | p.Glu236_Thr237ins | - | - | - | - | 2 |
| 27 | SCN1B | 19 | 35524607 | rs72558029 | G | A | D | p.Val138Ile | 0.0210 | 0.0117 | 0.0002 | - | 18, 35 |
| 28 | MYLK2 | 20 | 30419883 | - | C | T | - | p.Arg552* | - | - | - | - | 17 |
CHR/POS = chromosome and position (genome build GRCh37), rsID = dbSNP ID, REF/ALT = Reference/alternative allele, MetaSVM (D) = deleterious variant predicted by MetaSVM; AF = allele frequency; 1000Gp = AF in 1000 Genome Project phase 3, ExAC = AF in Exome Aggregation Consortium, GO-ESP = AF in NHLBI Exome Sequencing Project, THAI = AF in Thai control group, (AF data in1000G, ExAC, ESP from dbSNP: https://www.ncbi.nlm.nih.gov/projects/SNP/)