Table 2.
“Family private” variants present in all affected individuals.
| Pedigree | Gene | Affected † |
Healthy | Other Diagnosis ‡ |
Genomic Position | Variant | Impact§ |
|---|---|---|---|---|---|---|---|
| p1250 | KIT | 4 | 1 of 2 | 1 of 1 | 4q12:55,603,415 T > C | I924T | Neutral (0.86) |
|
| |||||||
| p1250 | HEXA | 4 | 1 of 2 | 1 of 1 | 15q23:72,638,995 C > T | M401I | Neutral (0.76) |
|
| |||||||
| p1271 | ZMYM6 | 3 | 1 of 1 | 2 of 5 | 1p34.3:35,453,774 A > C | L970R | Deleterious (1) |
|
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| p1271 | SPAG17 | 3 | 1 of 1 | 1 of 5 | 1p12:118,509,369 G > C | A2132G | Deleterious (1) |
|
| |||||||
| p1271 | TCP1 | 3 | 0 of 1 | 2 of 5 | 6q25.3:160,201,497 C > G | D359H | Deleterious (0.99) |
|
| |||||||
| p1271 | STAG3 | 3 | 1 of 1 | 1 of 5 | 7q22.1:99,794,880 T > G | I348S | Deleterious (1) |
|
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| p1271 | STK33 | 3 | 0 of 1 | 3 of 5 | 11p15.4:8,588,781 TCTGGTTCAGAGCTCA > T |
<splice> | n/a |
|
| |||||||
| p1271 | DDX55 | 3 | 1 of 1 | 1 of 5 | 12q24.31:124,086,789 A > G | M32V | Neutral (0.93) |
|
| |||||||
| p1271 | NTRK3 | 3 | 0 of 1 | 2 of 5 | 15q25.3:88,472,466 C > G | D697H | Deleterious (1) |
|
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| p1271 | GREB1L | 3 | 1 of 1 | 1 of 5 | 18q11.2:19,093,839 A > G | N1598S | Deleterious (1) |
|
| |||||||
| p1271 | CEACAM16 | 3 | 0 of 1 | 3 of 5 | 19q13.32:45,211,144 G > A | A318T | Neutral (0.79) |
|
| |||||||
| p1274 | STIP1 | 6 | 1 of 1 | 1 of 2 | 11q13.1:63,963,130 C > G | P173A | Neutral (0.97) |
|
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| p1274 | SHANK2 | 6 | 1 of 1 | 1 of 2 | 11q13.4:70,644,595 G > A | A578V | Deleterious (1) |
|
| |||||||
| p1274 |
RP11-
796G6.2 |
6 | 0 of 1 | 2 of 2 | 14q32.31:102,198,574 G > A | W112* | n/a |
|
| |||||||
| p1274 | DEF8 | 6 | 0 of 1 | 1 of 2 | 16q24.3:90,030,588 G > A | R399Q | n/a Deleterious (1) |
|
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| p1333 | RNASEL | 4 | 1 of 2 | 0 of 0 | 1q25.3:182,545,525 C > G | <splice> | n/a |
|
| |||||||
| p1333 | KIAA1524 | 4 | 1 of 2 | 0 of 0 | 3q13.13:108,301,916 T > C | T89A | Neutral (0.85) |
|
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| p1333 | AVEN | 4 | 1 of 2 | 0 of 0 | 15q14:34,331,202 C > T | G16S | Deleterious (1) |
|
| |||||||
| p1333 | SMARCA1 | 4 | 1 of 2 | 0 of 0 | Xq25:128,638,728 C > T | V384M | Deleterious (1) |
|
| |||||||
| pVA02 | TGM6 | 4 | 0 of 1 | 2 of 3 | 20p13:2,384,113 G > A | V354I | Deleterious (0.98) |
|
| |||||||
| pVA04 | HSD17B4 | 4 | 0 of 1 | 2 of 3 | 5q23.1:118,835,147 G > C | D395H | Neutral (0.86) |
|
| |||||||
| pVA04 | MAN1A1 | 4 | 1 of 1 | 3 of 3 | 6q22.31:119,670,217 C > T | G5D | Neutral (0.87) |
|
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| pVA04 | ALPK3 | 4 | 0 of 1 | 2 of 3 | 15q25.3:85,400,551 G > | S1063N | Deleterious (0.99) |
|
| |||||||
| pVA07 | BEND7 | 2 | 1 of 2 | 2 of 3 | 10p13:13,534,853 G > T | P147T | Neutral (0.92) |
|
| |||||||
| pVA07 | WDFY4 | 2 | 1 of 2 | 2 of 3 | 10q11.23:49,982,576 T > A | V876D | Deleterious (1) |
|
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| pVA07 | WDR25 | 2 | 1 of 2 | 2 of 3 | 14q32.2:100,992,319 G > A | R405H | Deleterious (1) |