fam 2025: crb1 : m: c.2219c>t p.s2740f

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Fam 232: PRPF8 : M: c.6992A>G p.E2331G. Fam 2025: CRB1 : M: c.2219C>T p.S2740F. Fam 1915: CACNA1F : M: c.973C>T p.Q325X. 346. 4499. 4242. 4248. [M]+[=]. [M]+[=]. [M]+[=]. [M]+[=]. ?. 4241. 4240. 4094. 348. 347. [M]+[M]. [M]. [M]+[M]. [M]+[=]. [M]+[=]. - PowerPoint PPT Presentation

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Fam 2025: CRB1: M: c.2219C>T p.S2740F

Fam 146: RPGR: M: c.248-2A splice defect

Fam 1915: CACNA1F: M: c.973C>T p.Q325X

346[M]+[=]

348[M]+[=]

347[M]+[=]

4241[M]+[M]

4240[M]+[M]

4499[M]+[=]

4242[M]+[=]

4094[M]