RP1L1 | Mutation | In-Frame | ENST00000382483.3 |
g.10467515_10467517del
|
c.4091_4093del
|
p.Gly1364del
|
damaging
| MHCC97H |
RP1L1 | Mutation | Missense | ENST00000382483.3 |
g.10470571G>A
|
c.1037C>T
|
p.Ala346Val
|
probably damaging
| HepaRG |
RP1L1 | Mutation | Missense | ENST00000382483.3 |
g.10467335C>G
|
c.4273G>C
|
p.Asp1425His
|
probably damaging
| HLE |
RP1L1 | Mutation | Missense | ENST00000382483.3 |
g.10467335C>G
|
c.4273G>C
|
p.Asp1425His
|
probably damaging
| HLF |
RP1L1 | Mutation | Missense | ENST00000382483.3 |
g.10467580T>G
|
c.4028A>C
|
p.Glu1343Ala
|
benign
| JHH5 |
RP1L1 | Mutation | Missense | ENST00000382483.3 |
g.10467581C>T
|
c.4027G>A
|
p.Glu1343Lys
|
benign
| JHH5 |
RP1L1 | Mutation | Missense | ENST00000382483.3 |
g.10467581C>T
|
c.4027G>A
|
p.Glu1343Lys
|
benign
| JHH6 |
RP1L1 | Mutation | Missense | ENST00000382483.3 |
g.10467581C>T
|
c.4027G>A
|
p.Glu1343Lys
|
benign
| JHH7 |
RP1L1 | Mutation | Missense | ENST00000382483.3 |
g.10465778C>T
|
c.5830G>A
|
p.Glu1944Lys
|
benign
| MHCC97H |
RP1L1 | Mutation | Truncating | ENST00000382483.3 |
g.10480388_10480389insA
|
c.323_324insT
|
p.Lys108AsnfsX30
|
damaging
| SNU398 |
RP1L1 | Mutation | Truncating | ENST00000382483.3 |
g.10480296dup
|
c.416dup
|
p.Gly140ArgfsX10
|
damaging
| JHH4 |
RP1L1 | Mutation | Truncating | ENST00000382483.3 |
g.10480296dup
|
c.416dup
|
p.Gly140ArgfsX10
|
damaging
| SNU878 |
RP1L1 | Mutation | Truncating | ENST00000382483.3 |
g.10470860G>A
|
c.752-4C>T
|
p.?
|
damaging
| SNU886 |
RP1L1 | CNA | Homozygous_Deletion | |
|
|
|
| SNU475 |
RP1L1 | CNA | Homozygous_Deletion | |
|
|
|
| JHH4 |