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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:
MYH3
& Disease:
SCT
, 10 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
587706
MYH3
c.-9+1G>A
--
NM_002470.4
M
SNV
P
3
+
8
503890
MYH3
c.1986_1990del
p.Asn662fs (p.N662fs)
NM_002470.4
M
Del
P
3
+
2
203472
MYH3
c.724TCC[1]
p.Ser243Del (p.S243del)
NM_002470.4
M
MS
P
2
+
2
504352
MYH3
c.2419C>T
p.Gln807Ter (p.Q807X)
NM_002470.4
M
SNV
LP
1
+
1
587701
MYH3
c.4647+1G>A
--
NM_002470.4
M
SNV
P
3
+
1
587702
MYH3
c.1581+1G>A
--
NM_002470.4
M
SNV
P
3
+
1
587703
MYH3
c.141T>G
p.Tyr47Ter (p.Y47X)
NM_002470.4
M
SNV
P
3
+
1
587704
MYH3
c.1411-391_1411-219del
--
NM_002470.4
M
Del
P
2
+
1
617792
MYH3
c.1934T>G
p.Phe645Cys (p.F645C)
NM_002470.4
M
SNV
LP
1
+
0
617793
MYH3
c.2699del
p.Leu900fs (p.L900fs)
NM_002470.4
M
Del
LP
1
+
0
10 Results, 20 per Page
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