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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:
B2M
& Disease:
AMYL8
, 8 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1399008
B2M
c.340A>C
p.Lys114Gln (p.K114Q)
NM_004048.4
M
SNV
VUS
2
+
2
1408274
B2M
c.278C>A
p.Thr93Asn (p.T93N)
NM_004048.4
M
SNV
VUS
2
+
2
1048547
B2M
c.154_155delinsTT
p.Pro52Leu (p.P52L)
NM_004048.4
M
Indel
P
2
+
2
1636638
B2M
c.68-13C>T
--
NM_004048.4
M
SNV
LB
2
+
2
1578487
B2M
c.67+12C>T
--
NM_004048.4
M
SNV
LB
2
+
2
1558254
B2M
c.67+19C>T
--
NM_004048.4
M
SNV
LB
2
+
2
31907
B2M
c.286G>A
p.Asp96Asn (p.D96N)
NM_004048.4
M
SNV
P
2
+
1
217869
B2M
c.67+1G>T
--
NM_004048.4
M
SNV
P
2
+
1
8 Results, 20 per Page
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