SZT2 | Mutation | Missense | ENST00000562955.1 |
g.43898419C>T
|
c.5380C>T
|
p.Arg1794Trp
|
benign
| SNU182 |
SZT2 | Mutation | Missense | ENST00000562955.1 |
g.43897471G>A
|
c.5002G>A
|
p.Ala1668Thr
|
benign
| HLE |
SZT2 | Mutation | Missense | ENST00000562955.1 |
g.43897471G>A
|
c.5002G>A
|
p.Ala1668Thr
|
benign
| HLF |
SZT2 | Mutation | Missense | ENST00000562955.1 |
g.43896971C>A
|
c.4781C>A
|
p.Ser1594Tyr
|
probably damaging
| JHH1 |
SZT2 | Mutation | Missense | ENST00000562955.1 |
g.43908242C>T
|
c.7933C>T
|
p.Leu2645Phe
|
probably damaging
| JHH2 |
SZT2 | Mutation | Missense | ENST00000562955.1 |
g.43900974G>T
|
c.5837G>T
|
p.Arg1946Leu
|
probably damaging
| SNU878 |
SZT2 | Mutation | Truncating | ENST00000562955.1 |
g.43909027dup
|
c.8333dup
|
p.Glu2779ArgfsX38
|
damaging
| Huh7 |