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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:
KIT
& Disease:
Lip and Oral Cavity Cancer
, 8 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
41599
KIT
c.1621A>C
p.Met541Leu (p.M541L)
NM_000222.3
M
SNV
P
7
+
1
KIT
c.1609A>C
p.Met537Leu (p.M537L)
NM_001093772.2
SNV
P
7
+
1
KIT
c.1624A>C
p.Met542Leu (p.M542L)
NM_001385284.1
SNV
P
7
+
1
KIT
c.1621A>C
p.Met541Leu (p.M541L)
NM_001385285.1
SNV
P
7
+
1
KIT
c.1609A>C
p.Met537Leu (p.M537L)
NM_001385286.1
SNV
P
7
+
1
KIT
c.1612A>C
p.Met538Leu (p.M538L)
NM_001385288.1
SNV
P
7
+
1
KIT
c.1624A>C
p.Met542Leu (p.M542L)
NM_001385290.1
SNV
P
7
+
1
KIT
c.1612A>C
p.Met538Leu (p.M538L)
NM_001385292.1
SNV
P
7
+
1
8 Results, 20 per Page
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