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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:
ILD
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
916671
TERT
c.230T>C
p.Leu77Pro (p.L77P)
NM_198253.3
M
SNV
LP
4
+
1
916674
TERT
c.2812C>T
p.Arg938Trp (p.R938W)
NM_198253.3
M
SNV
LP
6
+
1
916671
TERT
c.230T>C
p.Leu77Pro (p.L77P)
NM_001193376.3
SNV
LP
4
+
1
916674
TERT
c.2654+2029C>T
--
NM_001193376.3
SNV
LP
6
+
1
916632
TERT
c.347C>T
p.Thr116Ile (p.T116I)
NM_198253.3
M
SNV
LP
1
+
0
TERT
c.347C>T
p.Thr116Ile (p.T116I)
NM_001193376.3
SNV
LP
1
+
0
6 Results, 20 per Page
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