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
|
c.1022_1023insTC
|
p.Phe342HisfsX28
|
1154insTC
|
exon 8
|
insertion of TC after 1154
|
frameshift
|
c.3063_3068delAGTGAT
|
p.Ile1023_Val1024del
|
3195del6
|
exon 19
|
deletion of AGTGAT from 3195 to 3200
|
deletion of Val1022 and Ile1023
|
c.3067_3072delATAGTG
|
p.Ile1023_Val1024del
|
3199del6
|
exon 19
|
deletion of ATAGTG from 3199
|
deletion of Ile at 1023 and Val at 1024
|
c.3068T>C
|
p.Ile1023Thr
|
I1023T
|
exon 19
|
3200T>C
|
|
c.3068_3072delTAGTG
|
p.Ile1023SerfsX22
|
3200_3204delTAGTG
|
exon 19
|
Deletion of TAGTG from 3200
|
Frameshift
|
|
|