Below the variants for the list 'spliceAI_visual_2022', created by davidbaux, on 2022-10-05
- TTN - NM_001267550.2:c.31349-1G>C - p.(?)
Juliette Nectoux - 2020-08-21
- SETD5 - NM_001080517.3:c.2476+198A>C - p.(?)
davidbaux - 2022-04-19
- CASK - NM_003688.3:c.172+1G>A - p.(?)
Thomas Besnard - 2022-04-21
- SETD5 - NM_001080517.3:c.568-31_568dup - p.(?)
davidbaux - 2022-05-05
- KMT2D - NM_003482.4:c.5782+1G>A - p.(?)
Jean-Madeleine - 2022-06-08
- GRN - NM_002087.4:c.-9A>G - p.(?)
Jean-Madeleine - 2022-06-08
- SCN1A - NM_001165963.4:c.4002+2461T>C - p.(?)
Jean-Madeleine - 2022-06-10
- MFGE8 - NM_005928.4:c.871-803A>G - p.(?)
Jean-Madeleine - 2022-06-10
- EYS - NM_001142800.2:c.2992_2992+6delinsCA - p.(?)
Jean-Madeleine - 2022-06-10
- KMT2D - NM_003482.4:c.5189-1G>C - p.(?)
Jean-Madeleine - 2022-11-09