Table 1.
Sudden Infant Death Syndrome Cases Identified With a Rare Non-Synonymous KCNH2 Variant
| Case# | Age (Months) |
Sex | Ethnicity | KCNH2 Variant |
Overall | European (non-Finish) |
European (Finnish) |
African | Latino | Ashkenaz i Jewish |
East Asian |
South Asian | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 3 | M | White | E90K | 3/112,877 | 0/49,425 | 0/10,256 | 0/6,513 | 3/16,361 | 0/4669 | 0/8246 | 0/14,866 | 0/2541 |
| 2 | 2 | M | Black | R181Q | 90/50,191 | 0/21,119 | 0/3,904 | 85/4747 | 2/6,480 | 0/3,193 | 0/2,030 | 1/7,371 | 2/1,482 |
| 3 | 4 | F | Black | A190T | 25/15,223 | 0/7,440 | 0/1,643 | 24/4309 | 2/391 | 0/149 | 0/809 | NA | 0/482 |
| 4 | 4 | M | White | A190T | - | - | - | - | - | - | - | - | - |
| 5 | 6 | M | White | G294V | 0/526 | 0/248 | 0/35 | 0/20 | 0/105 | 0/29 | 0/22 | 0/46 | 0/21 |
| 6 | 1 | F | Black | R791W | 26/138,047 | 0/63,055 | 0/12,813 | 24/11,898 | 1/17,205 | 0/5,070 | 0/9,409 | 1/15,386 | 0/3,211 |
| 7 | 2 | M | Black | P967L | 30/127,481 | 5/57,328 | 0/11,423 | 21/10,714 | 0/16,630 | 0/4841 | 0/8,954 | 2/14,581 | 2/3,010 |
| 8 | 5 | F | White | R1005W | 0/86,582 | 0/36,106 | 0/8,044 | 0/4,561 | 0/12,870 | 0/4,206 | 0/6,363 | 0/12,349 | 0/2,083 |
| 9 | 8 | F | Black | Q1068R | 11/122,236 | 6/55,287 | 0/11,118 | 4/7,622 | 1/16,718 | 0/4872 | 0/8,612 | 0/15,293 | 0/2,714 |
A list of the sudden infant death syndrome (SIDS) cases with a rare non-synonymous KCNH2 variant. Also shown is the number of subjects and heterozygote frequency of each variant within Genome Aggregation Database (GenomAD) exome database. Because of exome sequencing coverage issues, the number of subjects with quality exome sequencing reads at a specific location is different when reporting data from the GenomAD database. Therefore the denominator differs for each of the variants listed. M = male, F=female.