SEARCH TIPS
- Search is case insensitive.
- Search term can consist of a whole word or part of a word e.g.
- Searching for "551" in the Protein Name field will retrieve all mutations that alter the protein at position 551.
- Searching for "del" in Mutation Names will retrieve all deletion mutations (but it may take awhile).
cDNA Name
|
Protein Name
|
Legacy Name
|
Region
|
Description
|
Consequence
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c.2900T>C
|
p.Leu967Ser
|
L967S
|
exon 17
|
T to C at 3032
|
Leu to Ser at 967 (oligospermia?)
|
|
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