fam 2025: crb1 : m: c.2219c>t p.s2740f
DESCRIPTION
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 PresentationTRANSCRIPT
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]
4248[M]+[=]
Fam 232: PRPF8: M: c.6992A>G p.E2331G
[M]+[=]219
[M]+[=]200
[M]+[=]220
[M]+[=]199
?
[M]+[=]222
[M]221