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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:
PMS1
& Disease:
CRC
, 11 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
998151
PMS1
c.2766del
p.His923fs (p.H923fs)
NM_000534.5
M
Del
P
1
+
0
PMS1
c.2766delT
--
NM_000534.5
M
Del
P
1
+
0
PMS1
c.2649del
p.His884fs (p.H884fs)
NM_001128143.2
Del
P
1
+
0
PMS1
c.2280del
p.His761fs (p.H761fs)
NM_001128144.2
Del
P
1
+
0
PMS1
c.2238del
p.His747fs (p.H747fs)
NM_001289408.2
Del
P
1
+
0
PMS1
c.2238del
p.His747fs (p.H747fs)
NM_001289409.2
Del
P
1
+
0
PMS1
c.2163del
p.His722fs (p.H722fs)
NM_001321044.2
Del
P
1
+
0
PMS1
c.2766del
p.His923fs (p.H923fs)
NM_001321045.2
Del
P
1
+
0
PMS1
c.2583del
p.His862fs (p.H862fs)
NM_001321046.2
Del
P
1
+
0
PMS1
c.2766del
p.His923fs (p.H923fs)
NM_001321047.2
Del
P
1
+
0
PMS1
c.2766del
p.His923fs (p.H923fs)
NM_001321048.2
Del
P
1
+
0
11 Results, 20 per Page
1
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