Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33428 | chr9 | 136523954 | G | A |
c.166C>T
|
p.Arg56Ter
|
4.5 |
|
B | ||
| 13429 | chr9 | 136544070 | G | A |
c.94C>T
|
p.Leu32=
|
2.0 |
|
B | ||
| 10904 | chr9 | 136668539 | C | A |
-
c.81-18C>A
|
-
-
|
- | 3.0 |
|
B | |
| 25188 | chr9 | 136669724 | G | A |
-
c.313+3G>A
|
-
-
|
3.0 |
|
B | ||
| 8645 | chr9 | 136669737 | C | T |
-
c.313+16C>T
|
-
-
|
3.0 |
|
B | ||
| 6399 | chr9 | 136669940 | G | A |
-
c.340G>A
|
-
p.Gly114Arg
|
2.5 |
|
B | ||
| 9135 | chr9 | 136670022 | C | G |
-
c.409+13C>G
|
-
-
|
1.0 |
|
B | ||
| 34068 | chr9 | 136908194 | G | A |
c.491G>A
|
p.Arg164Gln
|
3.0 |
|
B | ||
| 13474 | chr9 | 136908236 | G | A |
c.528+5G>A
|
-
|
3.0 |
|
B | ||
| 24421 | chr9 | 136920444 | G | A |
c.889G>A
|
p.Ala297Thr
|
- | 3.0 |
|
B | |
| 34479 | chr9 | 136920489 | G | C |
c.934G>C
|
p.Asp312His
|
- | 3.0 |
|
B | |
| 13259 | chr9 | 136921083 | G | A |
c.1006G>A
|
p.Ala336Thr
|
- | 3.0 |
|
B | |
| 14107 | chr9 | 136921192 | G | A |
c.1115G>A
|
p.Arg372His
|
3.0 |
|
B | ||
| 28265 | chr9 | 136925790 | C | CT |
c.1395_1396insT
|
p.Ala466CysfsTer268
|
- | 3.0 |
|
B | |
| 3673 | chr9 | 137040964 | G | A |
c.406C>T
|
p.Arg136Trp
|
3.0 |
|
B | ||
| 3674 | chr9 | 137065086 | C | T |
c.931G>A
|
p.Ala311Thr
|
- | 3.0 |
|
B | |
| 4361 | chr9 | 137813531 | G | A |
c.3180+1G>A
|
p.?
|
3.0 |
|
B | ||
| 13590 | chr9 | 138043911 | T | G |
c.3413+11T>G
|
-
|
- | 3.0 |
|
B | |
| 3433 | chr9 | 138078124 | G | A |
c.4960G>A
|
p.Gly1654Arg
|
- | 3.0 |
|
B | |
| 27648 | chr10 | 813180 | G | A |
c.1963C>T
|
p.Gln655Ter
|
- | 4.0 |
|
B |