Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 129 | chr2 | 140444650 | G | A |
c.10087C>T
|
p.Gln3363Ter
|
- | 4.67 |
|
A | |
| 35183 | chr2 | 140444679 | G | A |
c.10058C>T
|
p.Pro3353Leu
|
- | 3.0 |
|
B | |
| 17213 | chr2 | 140450558 | G | A |
c.10057+10C>T
|
-
|
- | 3.0 |
|
B | |
| 11527 | chr2 | 140450579 | G | T |
c.10046C>A
|
p.Pro3349His
|
- | 3.0 |
|
B | |
| 9189 | chr2 | 140450607 | C | T |
c.10018G>A
|
p.Asp3340Asn
|
- | 3.0 |
|
B | |
| 18056 | chr2 | 140450657 | C | T |
c.9968G>A
|
p.Arg3323His
|
3.0 |
|
B | ||
| 27207 | chr2 | 140456452 | C | T |
c.9963+3G>A
|
-
|
- | 3.0 |
|
B | |
| 20518 | chr2 | 140456493 | C | T |
c.9925G>A
|
p.Asp3309Asn
|
3.0 |
|
B | ||
| 10084 | chr2 | 140456532 | G | A |
c.9886C>T
|
p.His3296Tyr
|
- | 3.0 |
|
B | |
| 35106 | chr2 | 140456557 | C | A |
c.9861G>T
|
p.Leu3287Phe
|
- | 3.0 |
|
B | |
| 22688 | chr2 | 140456584 | C | T |
c.9834G>A
|
p.Met3278Ile
|
- | 3.0 |
|
B | |
| 19933 | chr2 | 140457519 | T | TA |
c.9757dup
|
p.Tyr3253LeufsTer16
|
- | 4.0 |
|
B | |
| 25731 | chr2 | 140457571 | A | C |
c.9706T>G
|
p.Ser3236Ala
|
- | 3.0 |
|
B | |
| 28719 | chr2 | 140457633 | G | A |
c.9644C>T
|
p.Pro3215Leu
|
3.0 |
|
B | ||
| 4223 | chr2 | 140475189 | C | T |
c.9574G>A
|
p.Asp3192Asn
|
3.0 |
|
B | ||
| 514 | chr2 | 140475203 | C | A |
c.9560G>T
|
p.Arg3187Ile
|
- | 3.0 |
|
B | |
| 4111 | chr2 | 140475207 | G | A |
c.9556C>T
|
p.Arg3186Cys
|
3.0 |
|
B | ||
| 8748 | chr2 | 140475306 | G | A |
c.9457C>T
|
p.Pro3153Ser
|
3.0 |
|
B | ||
| 4387 | chr2 | 140475339 | T | G |
c.9426-2A>C
|
p.?
|
- | 4.0 |
|
B | |
| 25875 | chr2 | 140475346 | G | T |
c.9426-9C>A
|
-
|
- | 3.0 |
|
B |