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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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Effortless mutation search and display tool
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TP53
SOD1
DMD
c.2588dup
c.990_993del
c.*747C>T
p.S20P
p.S183X
p.Ile232Leu
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