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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:
NSD1
& Disease:
Farsightedness
, 12 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
159315
NSD1
c.3839G>A
p.Trp1280Ter (p.W1280X)
NM_022455.5
M
SNV
P
10
+
4
NSD1
c.2966G>A
p.Trp989Ter (p.W989X)
NM_001365684.2
SNV
P
10
+
4
NSD1
c.3839G>A
p.Trp1280Ter (p.W1280X)
NM_001409301.1
SNV
P
10
+
4
NSD1
c.3839G>A
p.Trp1280Ter (p.W1280X)
NM_001409302.1
SNV
P
10
+
4
NSD1
c.3839G>A
p.Trp1280Ter (p.W1280X)
NM_001409303.1
SNV
P
10
+
4
NSD1
c.3419G>A
p.Trp1140Ter (p.W1140X)
NM_001409304.1
SNV
P
10
+
4
NSD1
c.3086G>A
p.Trp1029Ter (p.W1029X)
NM_001409305.1
SNV
P
10
+
4
NSD1
c.2966G>A
p.Trp989Ter (p.W989X)
NM_001409306.1
SNV
P
10
+
4
NSD1
c.2966G>A
p.Trp989Ter (p.W989X)
NM_001409307.1
SNV
P
10
+
4
NSD1
c.2966G>A
p.Trp989Ter (p.W989X)
NM_001409308.1
SNV
P
10
+
4
NSD1
c.2966G>A
p.Trp989Ter (p.W989X)
NM_001409309.1
SNV
P
10
+
4
NSD1
c.2966G>A
p.Trp989Ter (p.W989X)
NM_172349.5
SNV
P
10
+
4
12 Results, 20 per Page
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