Table 3 Intronic variant which is affected splicing within 11–50 bp from exon.
From: Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
ID | HPO term | M-PMS | chr | Position | ref | alt | Inheritance | Gene, variant | SpliceAI delta score AG|AL|DG|DL | ClinVar (# of submissions) |
|---|---|---|---|---|---|---|---|---|---|---|
17132 | HP:0000113;HP:0002023;HP:0001249;HP:0001320;HP:0002282 | 0.714 | 10 | 1,103,570 | TCTT | – | de novo | WDR37 NM_014023.4:c.727 − 27_727-24del, p.(Ser246_Glu247insLeuCysGlnLysLysLeuLysIleSerArgLysCysLeuPheTrpProSerLeuTrpGlnGln) | 0.44|0.14|0.01|0.01 | Likely_pathogenic (1) |
20065 | HP:0006855 | 2.055 | 12 | 88,068,657 | A | T | Paternal | CEP290 NM_025114.4:c.6012-12T > A | 0.34|0.95|0.01|0.04 | Pathogenic (2) |
21038 | HP:0001274;HP:0000365;HP:0002119 | 1.528 | X | 153,869,687 | A | C | Maternal | L1CAM NM_001278116.2:c.1124-24T > G | 0.99|0.18|0.00|0.00 | |
21118 | HP:0002119;HP:0001172 | 2.019 | X | 153,863,391 | C | T | de novo | L1CAM NM_001278116.2:c.3531-12G > A | 0.97|0.65|0.04|0.00 | Pathogenic (2) |
