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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:
AFP
& Disease:
AFPD
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
18169
AFP
c.883_884del
p.Leu295fs (p.L295fs)
NM_001134.3
M
MS
P
1
+
2
AFP
c.409_410del
p.Leu137fs (p.L137fs)
NM_001354717.2
MS
P
1
+
2
18170
AFP
c.543G>A
p.Trp181Ter (p.W181X)
NM_001134.3
M
SNV
P
1
+
1
AFP
c.69G>A
p.Trp23Ter (p.W23X)
NM_001354717.2
SNV
P
1
+
1
4 Results, 20 per Page
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