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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:
PKD1L1
& Disease:
HTX
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
873155
PKD1L1
c.160+1G>A
--
NM_138295.5
M
SNV
P
2
+
1
1065357
PKD1L1
c.5404_5405dup
p.Asp1803fs (p.D1803fs)
NM_138295.5
M
Dup
LP
2
+
0
PKD1L1
c.5404_5405dupAT
--
NM_138295.5
M
Dup
LP
2
+
0
3 Results, 20 per Page
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