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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
基因:
CCDC62
& 疾病:
SPGF67
, 共2条
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ClinVar
基因
碱基改变
氨基酸改变
转录本ID
突变类型
临床意义
疾病数量
文献数量
1345024
CCDC62
c.442C>T
p.Gln148Ter (p.Q148X)
NM_201435.5
M
SNV
致病突变
1
+
1
2428753
CCDC62
c.385G>C
p.Glu129Gln (p.E129Q)
NM_201435.5
M
SNV
未确定
1
+
0
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