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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:
TSHR
& Disease:
CH
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
225505
TSHR
c.1349G>A
p.Arg450His (p.R450H)
NM_000369.5
M
SNV
P
6
+
20
314723
TSHR
c.*1742G>T
--
NM_000369.5
M
SNV
VUS
3
+
0
314702
TSHR
c.*137del
--
NM_000369.5
M
Del
VUS
3
+
0
314715
TSHR
c.*1154dup
--
NM_000369.5
M
Dup
LB
3
+
0
4 Results, 20 per Page
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