Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
Log In
|
Sign Up
EN
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
Mutation Direct
Effortless mutation search and display tool
Search
Search criteria:
Gene:
NBN
& Disease:
Bap1 Tumor Predisposition Syndrome
, 3 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
6940
NBN
c.657_661del
p.Lys219fs (p.K219fs)
NM_002485.5
M
Del
P
11
+
52
NBN
c.657_661delACAAA
--
NM_002485.5
M
Del
P
11
+
52
NBN
c.411_415del
p.Lys137fs (p.K137fs)
NM_001024688.3
Del
P
11
+
52
3 Results, 20 per Page
1
Wechat
Comparison
Al agent
Tutorials
Back to top