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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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Effortless mutation search and display tool
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Search criteria:
基因:
GNAQ
& 疾病:
Melanoma
, 共4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
375955
GNAQ
c.626A>T
p.Gln209Leu (p.Q209L)
NM_002072.5
M
SNV
致病突变
3
+
10
375957
GNAQ
c.626A>C
p.Gln209Pro (p.Q209P)
NM_002072.5
M
SNV
致病突变
3
+
10
375956
GNAQ
c.626A>G
p.Gln209Arg (p.Q209R)
NM_002072.5
M
SNV
致病突变
1
+
9
50853
GNAQ
c.548G>A
p.Arg183Gln (p.R183Q)
NM_002072.5
M
SNV
致病突变
4
+
2
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