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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:
KCNQ1
& Disease:
Polyhydramnios
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
52953
KCNQ1
c.1085A>G
p.Lys362Arg (p.K362R)
NM_000218.3
M
SNV
P
9
+
19
KCNQ1
c.815A>G
p.Lys272Arg (p.K272R)
NM_001406837.1
SNV
P
9
+
19
KCNQ1
c.704A>G
p.Lys235Arg (p.K235R)
NM_181798.2
SNV
P
9
+
19
3 Results, 20 per Page
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