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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:
PKD1
& Disease:
PKD4
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
433976
PKD1
c.7000_7001insGCTGGCG
--
NM_001009944.3
M
MS
P
3
+
5
PKD1
c.6994_7000dup
p.Val2334fs (p.V2334fs)
NM_001009944.3
M
MS
P
3
+
5
PKD1
c.6994_7000dup
p.Val2334fs (p.V2334fs)
NM_000296.4
MS
P
3
+
5
635076
PKD1
c.377C>T
p.Pro126Leu (p.P126L)
NM_001009944.3
M
SNV
VUS
1
+
1
635077
PKD1
c.6656C>T
p.Pro2219Leu (p.P2219L)
NM_001009944.3
M
SNV
VUS
1
+
1
635076
PKD1
c.377C>T
p.Pro126Leu (p.P126L)
NM_000296.4
SNV
VUS
1
+
1
635077
PKD1
c.6656C>T
p.Pro2219Leu (p.P2219L)
NM_000296.4
SNV
VUS
1
+
1
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