Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22552 | chr5 | 161686220 | C | A |
c.39-10C>A
|
-
|
- | 3.0 |
|
B | |
| 18678 | chr5 | 161686328 | G | A |
c.137G>A
|
p.Arg46Gln
|
3.0 |
|
B | ||
| 864 | chr5 | 161686334 | G | T |
c.143G>T
|
p.Arg48Leu
|
3.0 |
|
B | ||
| 21755 | chr5 | 161686337 | C | T |
c.146C>T
|
p.Pro49Leu
|
3.0 |
|
B | ||
| 10375 | chr5 | 161686990 | C | G |
c.212C>G
|
p.Ser71Ter
|
3.0 |
|
B | ||
| 588 | chr5 | 161688964 | G | GT |
c.248dup
|
p.Arg84ProfsTer6
|
3.0 |
|
B | ||
| 12386 | chr5 | 161688976 | C | T |
c.253C>T
|
p.Gln85Ter
|
3.0 |
|
B | ||
| 9450 | chr5 | 161688995 | G | T |
c.272G>T
|
p.Arg91Met
|
- | 3.0 |
|
B | |
| 27463 | chr5 | 161689109 | T | G |
c.386T>G
|
p.Met129Arg
|
- | 3.0 |
|
B | |
| 27464 | chr5 | 161689110 | G | T |
c.387G>T
|
p.Met129Ile
|
- | 3.0 |
|
B | |
| 10854 | chr5 | 161689131 | C | G |
c.408C>G
|
p.Phe136Leu
|
- | 3.0 |
|
B | |
| 10253 | chr5 | 161689147 | G | A |
c.424G>A
|
p.Gly142Arg
|
- | 3.0 |
|
B | |
| 13911 | chr5 | 161689148 | G | A |
c.425G>A
|
p.Gly142Glu
|
3.0 |
|
B | ||
| 20737 | chr5 | 161689167 | G | A |
c.444G>A
|
p.Met148Ile
|
- | 3.0 |
|
B | |
| 18574 | chr5 | 161689173 | A | C |
c.446+4A>C
|
-
|
- | 3.0 |
|
B | |
| 20900 | chr5 | 161689293 | C | G |
c.486C>G
|
p.Asn162Lys
|
- | 3.0 |
|
B | |
| 24549 | chr5 | 161689302 | G | A |
c.495G>A
|
p.Met165Ile
|
3.0 |
|
B | ||
| 7166 | chr5 | 161689325 | A | C |
c.518A>C
|
p.Lys173Thr
|
3.0 |
|
B | ||
| 18679 | chr5 | 161689325 | A | G |
c.518A>G
|
p.Lys173Arg
|
3.0 |
|
B | ||
| 18680 | chr5 | 161689326 | G | GT |
c.522dup
|
p.Gly175TrpfsTer9
|
- | 3.0 |
|
B |