Table 2 Mutations identified in exon 3 of RAI1.

Mutations reported in Exon 3 of RAI1

c.253del19^a

p.Leu85fsX60

Frameshift

c.1449delC^{b, †}

p.Pro483fsX34

Frameshift

c.2773del29^b

p.Val925fsX8

Frameshift

c.3103insC^{c, d, †}

p.Gln1035fsX30

Frameshift

c.3103delC^{e, f, †}

p.Gln1035fsX28

Frameshift

c.3801delC^{a, †}

p.Pro1267fsX46

Frameshift

c.5265delC^{b, †}

p.Pro1755fsX74

Frameshift

c.1119delC^{g, †}

p.Ser373fsX65

Frameshift

c.4649delC^{g, †}

p.Ser1550fsX36

Frameshift

c.4933delGCCG^g

p.Ala1645fsX35

Frameshift

c.2878C>T^c

p.Arg960X

Nonsense

c.3634A>G^e

p.Ser1212Gly

Missense

c.4685A>G^a

p.Gln1562Arg

Missense

c.5423G>A^a

p.Ser1808Asn

Missense