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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:
BRCA1
& 疾病:
Uterine Corpus Cancer
, 共368条
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Reset
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
55608
BRCA1
c.5510G>A
p.Trp1837Ter (p.W1837X)
NM_007294.4
M
SNV
致病突变
4
+
17
BRCA1
c.5177G>A
p.Trp1726Ter (p.W1726X)
NM_001407947.1
SNV
致病突变
4
+
17
BRCA1
c.5177G>A
p.Trp1726Ter (p.W1726X)
NM_001407948.1
SNV
致病突变
4
+
17
BRCA1
c.5177G>A
p.Trp1726Ter (p.W1726X)
NM_001407949.1
SNV
致病突变
4
+
17
BRCA1
c.5174G>A
p.Trp1725Ter (p.W1725X)
NM_001407950.1
SNV
致病突变
4
+
17
BRCA1
c.5174G>A
p.Trp1725Ter (p.W1725X)
NM_001407951.1
SNV
致病突变
4
+
17
BRCA1
c.5174G>A
p.Trp1725Ter (p.W1725X)
NM_001407952.1
SNV
致病突变
4
+
17
BRCA1
c.5174G>A
p.Trp1725Ter (p.W1725X)
NM_001407953.1
SNV
致病突变
4
+
17
BRCA1
c.5174G>A
p.Trp1725Ter (p.W1725X)
NM_001407954.1
SNV
致病突变
4
+
17
BRCA1
c.5174G>A
p.Trp1725Ter (p.W1725X)
NM_001407955.1
SNV
致病突变
4
+
17
BRCA1
c.5171G>A
p.Trp1724Ter (p.W1724X)
NM_001407956.1
SNV
致病突变
4
+
17
BRCA1
c.5171G>A
p.Trp1724Ter (p.W1724X)
NM_001407957.1
SNV
致病突变
4
+
17
BRCA1
c.5171G>A
p.Trp1724Ter (p.W1724X)
NM_001407958.1
SNV
致病突变
4
+
17
BRCA1
c.5129G>A
p.Trp1710Ter (p.W1710X)
NM_001407959.1
SNV
致病突变
4
+
17
BRCA1
c.5126G>A
p.Trp1709Ter (p.W1709X)
NM_001407960.1
SNV
致病突变
4
+
17
BRCA1
c.5126G>A
p.Trp1709Ter (p.W1709X)
NM_001407962.1
SNV
致病突变
4
+
17
BRCA1
c.5123G>A
p.Trp1708Ter (p.W1708X)
NM_001407963.1
SNV
致病突变
4
+
17
BRCA1
c.5048G>A
p.Trp1683Ter (p.W1683X)
NM_001407964.1
SNV
致病突变
4
+
17
BRCA1
c.5003G>A
p.Trp1668Ter (p.W1668X)
NM_001407965.1
SNV
致病突变
4
+
17
BRCA1
c.4622G>A
p.Trp1541Ter (p.W1541X)
NM_001407966.1
SNV
致病突变
4
+
17
368 Results, 20 per Page
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