Table 2 Most common genotypes in the curated patient dataset and observed phenotypes. Entropy is a measure of phenotypic variability for a genotype

c.465 + 1G > A/c.465 + 1G > A

33

6.75%

• Infantile/late-infantile 32

• Unknown 1

0.14

c.465 + 1G > A/p.P428L

26

5.32%

• Juvenile 25

• Infantile/late-infantile 1

0.16

p.P428L/p.P428L

24

4.91%

• Juvenile 15

• Adult 9

0.66

c.465 + 1G > A/p.I181S

9

1.84%

• Adult 4

• Juvenile 4

• Infantile/late-infantile 1

0.96

p.R313X/p.R313X

7

1.43%

• Infantile/late-infantile 6

• Unknown 1

0.41

c.465 + 1G > A/p.R290H

5

1.02%

• Adult 3

• Juvenile 2

0.67

c.465 + 1G > A/p.R86W

5

1.02%

• Juvenile 5

0.00

c.465 + 1G > A/c.855-1G > A

4

0.82%

• Infantile/late-infantile 4

0.00

c.465 + 1G > A/p.R86Q

4

0.82%

• Infantile/late-infantile 2

• Juvenile 2

0.69

p.R86Q/p.S98F

4

0.82%

• Adult 2

• Juvenile 2

0.69