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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:
HYLS1
& Disease:
DWS
, 8 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
632594
HYLS1
c.-25-3673C>T
--
NM_001134793.2
M
SNV
LP
2
+
2
HYLS1
c.-80-3433C>T
--
NM_145014.3
SNV
LP
2
+
2
HYLS1
c.-25-3673C>T
--
NM_001377269.1
SNV
LP
2
+
2
HYLS1
c.-22-3676C>T
--
NM_001377270.1
SNV
LP
2
+
2
632593
HYLS1
c.-25-3754C>T
--
NM_001134793.2
M
SNV
LP
2
+
1
HYLS1
c.-80-3514C>T
--
NM_145014.3
SNV
LP
2
+
1
HYLS1
c.-25-3754C>T
--
NM_001377269.1
SNV
LP
2
+
1
HYLS1
c.-22-3757C>T
--
NM_001377270.1
SNV
LP
2
+
1
8 Results, 20 per Page
1
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