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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:
KDM6A
& Disease:
ASD
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
2429810
KDM6A
c.3190dup
p.Trp1064fs (p.W1064fs)
NM_001291415.2
M
Dup
P
1
+
1
KDM6A
c.3055dup
p.Trp1019fs (p.W1019fs)
NM_001291416.2
Dup
P
1
+
1
KDM6A
c.2899dup
p.Trp967fs (p.W967fs)
NM_001291417.2
Dup
P
1
+
1
KDM6A
c.2797dup
p.Trp933fs (p.W933fs)
NM_001291418.2
Dup
P
1
+
1
KDM6A
c.2146dup
p.Trp716fs (p.W716fs)
NM_001291421.2
Dup
P
1
+
1
KDM6A
c.2932dup
p.Trp978Leufs (p.W978Leufs)
NM_001410742.1
Dup
P
1
+
1
KDM6A
c.3034dup
p.Trp1012fs (p.W1012fs)
NM_021140.4
Dup
P
1
+
1
7 Results, 20 per Page
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