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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:
APC
& 疾病:
HCC
, 共1660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
810
APC
c.2805C>A
p.Tyr935Ter (p.Y935X)
NM_000038.6
M
SNV
致病突变
7
+
39
APC
c.2805C>A
p.Tyr935Ter (p.Y935X)
NM_001127510.3
SNV
致病突变
7
+
39
APC
c.2751C>A
p.Tyr917Ter (p.Y917X)
NM_001127511.3
SNV
致病突变
7
+
39
APC
c.2805C>A
p.Tyr935Ter (p.Y935X)
NM_001354895.2
SNV
致病突变
7
+
39
APC
c.2859C>A
p.Tyr953Ter (p.Y953X)
NM_001354896.2
SNV
致病突变
7
+
39
APC
c.2835C>A
p.Tyr945Ter (p.Y945X)
NM_001354897.2
SNV
致病突变
7
+
39
APC
c.2730C>A
p.Tyr910Ter (p.Y910X)
NM_001354898.2
SNV
致病突变
7
+
39
APC
c.2721C>A
p.Tyr907Ter (p.Y907X)
NM_001354899.2
SNV
致病突变
7
+
39
APC
c.2682C>A
p.Tyr894Ter (p.Y894X)
NM_001354900.2
SNV
致病突变
7
+
39
APC
c.2628C>A
p.Tyr876Ter (p.Y876X)
NM_001354901.2
SNV
致病突变
7
+
39
APC
c.2532C>A
p.Tyr844Ter (p.Y844X)
NM_001354902.2
SNV
致病突变
7
+
39
APC
c.2502C>A
p.Tyr834Ter (p.Y834X)
NM_001354903.2
SNV
致病突变
7
+
39
APC
c.2427C>A
p.Tyr809Ter (p.Y809X)
NM_001354904.2
SNV
致病突变
7
+
39
APC
c.2325C>A
p.Tyr775Ter (p.Y775X)
NM_001354905.2
SNV
致病突变
7
+
39
APC
c.1956C>A
p.Tyr652Ter (p.Y652X)
NM_001354906.2
SNV
致病突变
7
+
39
127312
APC
c.646C>T
p.Arg216Ter (p.R216X)
NM_000038.6
M
SNV
致病突变
7
+
28
APC
c.646C>T
p.Arg216Ter (p.R216X)
NM_001127510.3
SNV
致病突变
7
+
28
APC
c.646C>T
p.Arg216Ter (p.R216X)
NM_001354895.2
SNV
致病突变
7
+
28
APC
c.646C>T
p.Arg216Ter (p.R216X)
NM_001354896.2
SNV
致病突变
7
+
28
APC
c.676C>T
p.Arg226Ter (p.R226X)
NM_001354897.2
SNV
致病突变
7
+
28
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