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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:
MAP2K1
& Disease:
Melanoma
, 16 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
40744
MAP2K1
c.371C>T
p.Pro124Leu (p.P124L)
NM_002755.4
M
SNV
P
7
+
13
40781
MAP2K1
c.199G>A
p.Asp67Asn (p.D67N)
NM_002755.4
M
SNV
P
10
+
12
375981
MAP2K1
c.370C>T
p.Pro124Ser (p.P124S)
NM_002755.4
M
SNV
P
7
+
9
375982
MAP2K1
c.607G>A
p.Glu203Lys (p.E203K)
NM_002755.4
M
SNV
P
2
+
6
375978
MAP2K1
c.167A>C
p.Gln56Pro (p.Q56P)
NM_002755.4
M
SNV
P
4
+
6
375980
MAP2K1
c.362G>C
p.Cys121Ser (p.C121S)
NM_002755.4
M
SNV
P
3
+
5
223140
MAP2K1
c.171G>T
p.Lys57Asn (p.K57N)
NM_002755.4
M
SNV
P
6
+
5
376174
MAP2K1
c.171G>C
p.Lys57Asn (p.K57N)
NM_002755.4
M
SNV
LP
8
+
3
375983
MAP2K1
c.790C>T
p.Pro264Ser (p.P264S)
NM_002755.4
M
SNV
P
1
+
2
376175
MAP2K1
c.385T>C
p.Phe129Leu (p.F129L)
NM_002755.4
M
SNV
LP
1
+
2
375979
MAP2K1
c.332T>G
p.Ile111Ser (p.I111S)
NM_002755.4
M
SNV
P
1
+
2
376173
MAP2K1
c.169A>G
p.Lys57Glu (p.K57E)
NM_002755.4
M
SNV
P
3
+
2
375984
MAP2K1
c.1144A>C
p.Asn382His (p.N382H)
NM_002755.4
M
SNV
P
1
+
1
40746
MAP2K1
c.383G>A
p.Gly128Asp (p.G128D)
NM_002755.4
M
SNV
LP
1
+
1
375977
MAP2K1
c.157T>C
p.Phe53Leu (p.F53L)
NM_002755.4
M
SNV
P
1
+
1
375984
MAP2K1
c.1000A>C
p.Asn334His (p.N334H)
NM_001411065.1
SNV
P
1
+
1
16 Results, 20 per Page
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