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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:
TERT
& Disease:
Hepatoblastoma
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
212398
TERT
c.1317_1319GGA[2]
p.Glu441Del (p.E441del)
NM_198253.3
M
MS
P
8
+
8
TERT
c.1317GGA[2]
p.Glu441Del (p.E441del)
NM_198253.3
M
MS
P
8
+
8
TERT
c.1317GGA[2]
p.Glu441Del (p.E441del)
NM_001193376.3
MS
P
8
+
8
3 Results, 20 per Page
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