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Deleterious 0.

5 P (EV0122)

General algorithm Not deleterious 1B (EV0126)

Protein effect Conflicting 0 (EV0109)


(missense
changes only) Deleterious 1P (EV0121)
Gene-specific algorithm
Not deleterious 1B (EV0127)

Mammalian conservation Alternate residue present


Notinaffected
multiple mammalian species 1B (EV0125)

Computational Consensus 1P (EV0187)


predictors Splice loss
1 strong signal 0.5 P (EV0188)

Splicing effect Predicted gain of a de novo splice site 0.5 P (EV0201)


Splice gain
Predicted strengthening of a cryptic splice site 0.5 P (EV0202

No (or low) signal (silent/intronic/splice site variants only) 1B (EV0191)

Multi- Deleterious 1P (EV0119)


factorial
algorithm Not
Notdeleterious
affected 1B (EV0118)

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