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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:
TNFRSF4
& 疾病:
IMD16
, 共257条
Search
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
1508362
TNFRSF4
c.371-3C>T
--
NM_003327.4
M
SNV
未确定
1
+
2
1464842
TNFRSF4
c.145+5G>A
--
NM_003327.4
M
SNV
未确定
1
+
2
1483940
TNFRSF4
c.268+6C>T
--
NM_003327.4
M
SNV
未确定
1
+
2
1906344
TNFRSF4
c.145+6G>A
--
NM_003327.4
M
SNV
未确定
1
+
2
640195
TNFRSF4
c.764-2del
--
NM_003327.4
M
Del
未确定
1
+
2
999662
TNFRSF4
c.437+5G>A
--
NM_003327.4
M
SNV
未确定
1
+
2
970491
TNFRSF4
c.763+6T>A
--
NM_003327.4
M
SNV
未确定
1
+
2
2041090
TNFRSF4
c.269-3C>T
--
NM_003327.4
M
SNV
未确定
1
+
2
1406319
TNFRSF4
c.370+3G>A
--
NM_003327.4
M
SNV
未确定
1
+
2
1475967
TNFRSF4
c.370G>T
p.Asp124Tyr (p.D124Y)
NM_003327.4
M
SNV
未确定
1
+
2
1956267
TNFRSF4
c.635-3C>T
--
NM_003327.4
M
SNV
未确定
1
+
2
1401820
TNFRSF4
c.764-1G>A
--
NM_003327.4
M
SNV
未确定
1
+
2
640195
TNFRSF4
c.840del
p.Gly282fs (p.G282fs)
NM_001410709.1
Del
未确定
1
+
2
1401820
TNFRSF4
c.841G>A
p.Gly281Arg (p.G281R)
NM_001410709.1
SNV
未确定
1
+
2
1478848
TNFRSF4
c.796G>A
p.Glu266Lys (p.E266K)
NM_003327.4
M
SNV
未确定
1
+
1
2107151
TNFRSF4
c.370+2T>C
--
NM_003327.4
M
SNV
未确定
1
+
1
1155856
TNFRSF4
c.798G>A
p.Glu266= (p.E266=)
NM_003327.4
M
SNV
可能良性
1
+
1
1449784
TNFRSF4
c.29G>T
p.Arg10Leu (p.R10L)
NM_003327.4
M
SNV
未确定
1
+
1
581981
TNFRSF4
c.448G>T
p.Ala150Ser (p.A150S)
NM_003327.4
M
SNV
未确定
1
+
1
96692
TNFRSF4
c.193C>T
p.Arg65Cys (p.R65C)
NM_003327.4
M
SNV
致病突变
1
+
1
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