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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
Gene:
STK11
& Disease:
Testicular Cancer
, 8 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
141128
STK11
c.566C>T
p.Thr189Ile (p.T189I)
NM_000455.5
M
SNV
LB
4
+
7
182910
STK11
c.632G>A
p.Arg211Gln (p.R211Q)
NM_000455.5
M
SNV
LB
4
+
5
220264
STK11
c.1243C>G
p.Arg415Gly (p.R415G)
NM_000455.5
M
SNV
VUS
3
+
3
403791
STK11
c.1195C>A
p.Gln399Lys (p.Q399K)
NM_000455.5
M
SNV
VUS
3
+
2
142198
STK11
c.1012G>A
p.Val338Met (p.V338M)
NM_000455.5
M
SNV
LB
6
+
2
7448
STK11
c.488G>A
p.Gly163Asp (p.G163D)
NM_000455.5
M
SNV
P
1
+
2
141354
STK11
c.464+5G>A
--
NM_000455.5
M
SNV
LB
4
+
1
182902
STK11
c.719C>G
p.Ser240Trp (p.S240W)
NM_000455.5
M
SNV
LP
3
+
1
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