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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:
PSTPIP1
& Disease:
BD
, 12 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
317171
PSTPIP1
c.203C>T
p.Thr68Met (p.T68M)
NM_003978.5
M
SNV
P
3
+
2
PSTPIP1
c.203C>T
p.Thr68Met (p.T68M)
NM_001321135.2
SNV
P
3
+
2
PSTPIP1
c.176C>T
p.Thr59Met (p.T59M)
NM_001321136.2
SNV
P
3
+
2
PSTPIP1
c.398C>T
p.Thr133Met (p.T133M)
NM_001321137.1
SNV
P
3
+
2
280941
PSTPIP1
c.364G>A
p.Val122Ile (p.V122I)
NM_003978.5
M
SNV
P
3
+
1
PSTPIP1
c.364G>A
p.Val122Ile (p.V122I)
NM_001321135.2
SNV
P
3
+
1
PSTPIP1
c.337G>A
p.Val113Ile (p.V113I)
NM_001321136.2
SNV
P
3
+
1
PSTPIP1
c.559G>A
p.Val187Ile (p.V187I)
NM_001321137.1
SNV
P
3
+
1
280942
PSTPIP1
c.865G>C
p.Asp289His (p.D289H)
NM_003978.5
M
SNV
P
1
+
0
PSTPIP1
c.838G>C
p.Asp280His (p.D280H)
NM_001321136.2
SNV
P
1
+
0
PSTPIP1
c.1060G>C
p.Asp354His (p.D354H)
NM_001321137.1
SNV
P
1
+
0
PSTPIP1
c.872+460G>C
--
NM_001321135.2
SNV
P
1
+
0
12 Results, 20 per Page
1
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