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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:
EYA1
& Disease:
Renal Hypoplasia
, 9 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
242914
EYA1
c.121G>C
p.Glu41Gln (p.E41Q)
NM_000503.6
M
SNV
B
3
+
0
EYA1
c.121G>C
p.Glu41Gln (p.E41Q)
NM_001288574.2
SNV
B
3
+
0
EYA1
c.-164G>C
--
NM_001288575.2
SNV
B
3
+
0
EYA1
c.208G>C
p.Glu70Gln (p.E70Q)
NM_001370333.1
SNV
B
3
+
0
EYA1
c.121G>C
p.Glu41Gln (p.E41Q)
NM_001370334.1
SNV
B
3
+
0
EYA1
c.121G>C
p.Glu41Gln (p.E41Q)
NM_001370335.1
SNV
B
3
+
0
EYA1
c.208G>C
p.Glu70Gln (p.E70Q)
NM_001370336.1
SNV
B
3
+
0
EYA1
c.121G>C
p.Glu41Gln (p.E41Q)
NM_172058.4
SNV
B
3
+
0
EYA1
c.208G>C
p.Glu70Gln (p.E70Q)
NM_172059.5
SNV
B
3
+
0
9 Results, 20 per Page
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