Enter a variant below to see its SpliceAI and Pangolin scores.
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Examples   (on hg38):
chr8   140300616   T   G
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) [show more examples]
Genome version:
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SpliceAI-lookup/issues: issues or feature requests for this website. SpliceAI/issues: issues with the underlying SpliceAI model.

Sep 26, 2023
- visit the BETA version of this site to provide feedback on new features & visualizations before they are released here
- Fixed Pangolin bug that could cause masked scores to be computed incorrectly whenever a variant overlapped more than one gene. More details are provided by @kazmiekr

Sep 15, 2023
- updated to Gencode v44 basic annotation
- added raw REF & ALT scores to the Pangolin results table

[show older updates]

Related web tools:
liftover: for variants/positions/intervals (hg19 <=> hg38 <=> T2T)
CMA search: search OMIM by interval, gene or phenotype