Table 1 ClinVar pathogenic mutations predicted to be rescued by BPN-15477 treatment and selected based on top populational allele frequencies in gnomAD (v2.1.1).

IL36RN

c.115 + 6T > C

1.00E−03

Intronic

Loss

Inclusion

Pustular psoriasis

LIPA

c.894G > A

8.28E−04

Synonymous

Loss

Inclusion

Lysosomal acid lipase deficiency

DNAH9

c.1970 + 4A > G

3.18E−04

Intronic

Loss

Inclusion

Ciliary dyskinesia

CA5A

c.555G > A

1.67E−04

Synonymous

Loss

Inclusion

Carbonic anhydrase VA deficiency

ORC6

c.449 + 5G > A

1.63E−04

Intronic

Loss

Inclusion

Meier-Gorlin syndrome 3

SRD5A2

c.547G > A

1.59E−04

Missense

Loss

Inclusion

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

DGUOK

c.591G > A

1.27E−04

Intronic/synonymous

Loss

Inclusion

Mitochondrial DNA-depletion syndrome 3

HBB

c.92G > A

1.03E−04

Missense

Loss

Inclusion

Beta thalassemia

PIGN

c.963G > A

8.31E−05

Synonymous

Loss

Inclusion

Multiple congenital anomalies-hypotonia-seizures syndrome 1

NPHP1

c.1027G > A

6.37E−05

Missense

Loss

Inclusion

Nephronophthisis

KDSR

c.879G > A

6.37E−05

Synonymous

Loss

Inclusion

Erythrokeratodermia variabilis et progressive 4

SLC12A1

c.1942G > A

6.37E−05

Missense

Loss

Inclusion

Bartter syndrome, type 1

NSD1

c.6152-5T > G

5.96E−05

Intronic

Loss

Inclusion

Beckwith-Wiedemann syndrome

PARN

c.659 + 4_659 + 7delAGTA

4.63E−05

Intronic

Loss

Inclusion

Dyskeratosis congenita

GLA

c.639 + 919 G > A

4.53E−05

Intronic

Gain

Exclusion

Fabry disease

ATM

c.2250G > A

4.39E−05

Synonymous

Loss

Inclusion

Ataxia-telangiectasia syndrome

POLG

c.3104 + 3A > T

3.98E−05

Intronic

Loss

Inclusion

Progressive sclerosing poliodystrophy

GPX4

c.476 + 5G > A

3.65E−05

Intronic

Loss

Inclusion

Spondylometaphyseal dysplasia

GYPA

c.232G > A

3.60E−05

Missense

Loss

Inclusion

Blood group erik

MYO7A

c.2904G > A

3.20E−05

Synonymous

Loss

Inclusion

Usher syndrome, type 1