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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:
ABL1
& Disease:
LALL
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
12624
ABL1
c.944C>T
p.Thr315Ile (p.T315I)
NM_005157.6
M
SNV
P
3
+
27
ABL1
c.1001C>T
p.Thr334Ile (p.T334I)
NM_007313.3
SNV
P
3
+
27
12627
ABL1
c.757T>C
p.Tyr253His (p.Y253H)
NM_005157.6
M
SNV
P
3
+
18
ABL1
c.814T>C
p.Tyr272His (p.Y272H)
NM_007313.3
SNV
P
3
+
18
4 Results, 20 per Page
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