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中文
CRISPR/Cas9技术产生了一个从CT到TG的变异，位置在533-534，等同于c.533C>T和c.534T>G，导致serine被leucine替代，氨基酸位点178变为p.Ser178Leu。这是一种在无综合征的常染色体显性耳聋65型患者中观察到的致病变异（J:299025）。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
