Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5000 | chr9 | 136506527 | C | T |
c.4014G>A
|
p.Ala1338=
|
4.0 |
|
B | ||
| 7905 | chr9 | 136506559 | T | G |
c.3982A>C
|
p.Thr1328Pro
|
- | 3.0 |
|
B | |
| 12053 | chr9 | 136506586 | C | T |
c.3955G>A
|
p.Gly1319Arg
|
3.0 |
|
B | ||
| 12631 | chr9 | 136506628 | C | A |
c.3913G>T
|
p.Glu1305Ter
|
- | 4.5 |
|
B | |
| 12739 | chr9 | 136506851 | G | A |
c.3766C>T
|
p.Pro1256Ser
|
3.0 |
|
B | ||
| 905 | chr9 | 136507361 | C | A |
c.3587G>T
|
p.Gly1196Val
|
- | 3.0 |
|
B | |
| 5672 | chr9 | 136507404 | C | G |
c.3544G>C
|
p.Glu1182Gln
|
- | 3.0 |
|
B | |
| 1651 | chr9 | 136507428 | C | T |
c.3520G>A
|
p.Gly1174Ser
|
3.0 |
|
B | ||
| 853 | chr9 | 136508007 | G | A |
c.3458C>T
|
p.Pro1153Leu
|
- | 3.0 |
|
B | |
| 15941 | chr9 | 136508038 | C | A |
c.3427G>T
|
p.Glu1143Ter
|
- | 4.5 |
|
B | |
| 2311 | chr9 | 136508106 | C | A |
c.3359G>T
|
p.Gly1120Val
|
- | 3.0 |
|
B | |
| 2312 | chr9 | 136508107 | C | A |
c.3358G>T
|
p.Gly1120Trp
|
- | 3.0 |
|
B | |
| 7829 | chr9 | 136508241 | G | A |
c.3316C>T
|
p.Gln1106Ter
|
- | 3.5 |
|
B | |
| 11023 | chr9 | 136508258 | G | C |
c.3299C>G
|
p.Ser1100Cys
|
- | 3.0 |
|
B | |
| 10378 | chr9 | 136508265 | TG | T |
c.3291del
|
p.Ser1098AlafsTer81
|
- | 4.0 |
|
B | |
| 28832 | chr9 | 136508312 | C | T |
c.3245G>A
|
p.Arg1082His
|
2.0 |
|
B | ||
| 33853 | chr9 | 136508863 | C | T |
c.3171+7G>A
|
-
|
- | 3.0 |
|
B | |
| 832 | chr9 | 136508879 | GGGGCCAGTGTAGCC | G |
c.3148_3161del
|
p.Gly1050GlnfsTer10
|
- | 3.5 |
|
B | |
| 31130 | chr9 | 136509007 | C | T |
c.3034G>A
|
p.Gly1012Ser
|
2.5 |
|
B | ||
| 34749 | chr9 | 136509716 | A | C |
c.2969+17T>G
|
-
|
- | 3.0 |
|
B |