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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:
AMOTL1
& Disease:
FLP
, 2 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
929484
AMOTL1
c.479C>T
p.Pro160Leu (p.P160L)
NM_130847.3
M
SNV
LP
3
+
2
AMOTL1
c.329C>T
p.Pro110Leu (p.P110L)
NM_001301007.2
SNV
LP
3
+
2
2 Results, 20 per Page
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