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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:
COL11A1
& Disease:
Megalocornea
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
523552
COL11A1
c.4048_4065del
p.Ser1350_Pro1355del
NM_001854.4
M
Del
LP
5
+
0
COL11A1
c.3931_3948del
p.Ser1311_Pro1316del
NM_001190709.2
Del
LP
5
+
0
COL11A1
c.4084_4101del
p.Ser1362_Pro1367del
NM_080629.3
Del
LP
5
+
0
COL11A1
c.3700_3717del
p.Ser1234_Pro1239del
NM_080630.4
Del
LP
5
+
0
4 Results, 20 per Page
1
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