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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:
TP53
& 疾病:
Hepatoblastoma
, 共15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
12359
TP53
c.722C>T
p.Ser241Phe (p.S241F)
NM_000546.6
M
SNV
致病突变
35
+
26
TP53
c.722C>T
p.Ser241Phe (p.S241F)
NM_001126112.3
SNV
致病突变
35
+
26
TP53
c.722C>T
p.Ser241Phe (p.S241F)
NM_001126113.3
SNV
致病突变
35
+
26
TP53
c.722C>T
p.Ser241Phe (p.S241F)
NM_001126114.3
SNV
致病突变
35
+
26
TP53
c.326C>T
p.Ser109Phe (p.S109F)
NM_001126115.2
SNV
致病突变
35
+
26
TP53
c.326C>T
p.Ser109Phe (p.S109F)
NM_001126116.2
SNV
致病突变
35
+
26
TP53
c.326C>T
p.Ser109Phe (p.S109F)
NM_001126117.2
SNV
致病突变
35
+
26
TP53
c.605C>T
p.Ser202Phe (p.S202F)
NM_001126118.2
SNV
致病突变
35
+
26
TP53
c.605C>T
p.Ser202Phe (p.S202F)
NM_001276695.3
SNV
致病突变
35
+
26
TP53
c.605C>T
p.Ser202Phe (p.S202F)
NM_001276696.3
SNV
致病突变
35
+
26
TP53
c.245C>T
p.Ser82Phe (p.S82F)
NM_001276697.3
SNV
致病突变
35
+
26
TP53
c.245C>T
p.Ser82Phe (p.S82F)
NM_001276698.3
SNV
致病突变
35
+
26
TP53
c.245C>T
p.Ser82Phe (p.S82F)
NM_001276699.3
SNV
致病突变
35
+
26
TP53
c.605C>T
p.Ser202Phe (p.S202F)
NM_001276760.3
SNV
致病突变
35
+
26
TP53
c.605C>T
p.Ser202Phe (p.S202F)
NM_001276761.3
SNV
致病突变
35
+
26
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