LRP2 | Mutation | In-Frame | ENST00000263816.3 |
g.170063198_170063200del
|
c.7030_7032del
|
p.Asn2344del
|
damaging
| JHH2 |
LRP2 | Mutation | Missense | ENST00000263816.3 |
g.170131599G>A
|
c.1922C>T
|
p.Ala641Val
|
benign
| SNU387 |
LRP2 | Mutation | Missense | ENST00000263816.3 |
g.169997008C>T
|
c.13156G>A
|
p.Gly4386Arg
|
possibly damaging
| HLE |
LRP2 | Mutation | Missense | ENST00000263816.3 |
g.169997008C>T
|
c.13156G>A
|
p.Gly4386Arg
|
possibly damaging
| HLF |
LRP2 | Mutation | Missense | ENST00000263816.3 |
g.170103418C>T
|
c.2987G>A
|
p.Arg996Gln
|
probably damaging
| SNU368 |
LRP2 | Mutation | Truncating | ENST00000263816.3 |
g.169997025dup
|
c.13139dup
|
p.Cys4381MetfsX12
|
damaging
| HCC.1.2 |