Table 2. Germline RIT1 mutations found in the present study and review of the literature.

Exon	Nucleotide	AA	Functional domain	Aoki et al.8 (n =17)	Bertola et al.15 (n =6)	Chen et al.10 (n =4)	Gos et al.16 (n=4)	Probands (n =30)	Relatives (n =14)	Somatic mutations
2	c.104G>C	p.Ser35Thr	G1 domain	••	•			•••	•	—
3a	c.151G>T	p.Asp51Tyr	G2 domain					•	•	—
4	c.170C>G	p.Ala57Gly	G2 domain	••••	••	•		•••	••	Urinary tract carcinoma23
4	c.229G>C	p.Ala77Pro	G3 domain			•		—		Lung adenocarcinoma19, 20
4a	c.229G>A	p.Ala77Thr	G3 domain					••		—
5	c.241G>C	p.Glu81Gln	Switch II					•		Myeloid malignancies;16, 24 hepatocarcinoma;22 malignant melanomab
5	c.242A>G	p.Glu81Gly	Switch II	•				••	•••	Myeloid malignancies24
5	c.244T>A	p.Phe82Ile	Switch II					•		Myeloid malignancies24
5	c.244T>G	p.Phe82Val	Switch II	•		•	•	•	•	Myeloid malignancies24
5	c.244T>C	p.Phe82Leu	Switch II					••		—
5	c.246T>G	p.Phe82Leu	Switch II	••	•			•••		Lung adenocarcinoma21
5	c.247A>C	p.Thr83Pro	Switch II	•				•		—
5a	c.251C>T	p.Ala84Val	Switch II					•	•••	—
5	c.265T>C	p.Tyr89His	Switch II	•				•		—
5	c.270G>T	p.Met90Ile	Switch II	•			•	—	—	Myeloid malignancies20, 21, 24
5	c.284G>C	p.Gly95Ala	Switch II	••••	••	•	••	••••••••	•••	—

RIT1 mutations that were also reported as somatic mutations in solid tumors and/or hematopoietic malignancies are indicated.

^aNovel mutations.

^bReported in the Cosmic database with no reference.