Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 226 | chr2 | 47803500 | AC | A |
c.3261del
-
|
p.Phe1088SerfsTer2
-
|
4.67 |
|
A | ||
| 19908 | chr2 | 47803500 | ACC | A |
c.3260_3261del
-
|
p.Pro1087LeufsTer5
-
|
- | 4.0 |
|
B | |
| 227 | chr2 | 47803552 | CT | C |
c.3312del
-
|
p.Phe1104LeufsTer11
-
|
5.0 |
|
B | ||
| 8767 | chr2 | 47803584 | A | AT |
c.3339dup
-
|
p.Leu1114SerfsTer5
-
|
- | 4.0 |
|
B | |
| 10401 | chr2 | 47803659 | G | A |
c.3412G>A
-
|
p.Gly1138Arg
-
|
3.0 |
|
B | ||
| 2126 | chr2 | 47803662 | G | A |
c.3415G>A
-
|
p.Gly1139Ser
-
|
3.5 |
|
B | ||
| 14263 | chr2 | 47803672 | C | T |
c.3425C>T
-
|
p.Thr1142Met
-
|
2.5 |
|
B | ||
| 18422 | chr2 | 47804982 | G | T |
c.3511G>T
-
|
p.Asp1171Tyr
-
|
- | 3.0 |
|
B | |
| 33600 | chr2 | 47805012 | GACAGAAT | G |
c.3543_3549del
-
|
p.Asp1181GlufsTer12
-
|
- | 4.0 |
|
B | |
| 19534 | chr2 | 47805601 | AT | A |
c.3557-4del
-
|
-
-
|
1.0 |
|
B | ||
| 20202 | chr2 | 47805601 | ATT | A |
c.3557-5_3557-4del
-
|
-
-
|
2.0 |
|
B | ||
| 24118 | chr2 | 47805601 | ATTT | A |
c.3557-6_3557-4del
-
|
-
-
|
2.5 |
|
B | ||
| 121 | chr2 | 47806204 | G | A |
c.3647G>A
-
|
p.Gly1216Glu
-
|
- | 4.33 |
|
A | |
| 8581 | chr2 | 47806209 | G | A |
c.3652G>A
-
|
p.Gly1218Ser
-
|
3.0 |
|
B | ||
| 9014 | chr2 | 47806210 | G | A |
c.3653G>A
-
|
p.Gly1218Asp
-
|
- | 3.0 |
|
B | |
| 16691 | chr2 | 47806213 | C | T |
c.3656C>T
-
|
p.Thr1219Ile
-
|
3.5 |
|
B | ||
| 8580 | chr2 | 47806297 | C | T |
c.3740C>T
-
|
p.Thr1247Ile
-
|
3.0 |
|
B | ||
| 5649 | chr2 | 47806299 | C | G |
c.3742C>G
-
|
p.His1248Asp
-
|
3.0 |
|
B | ||
| 122 | chr2 | 47806359 | G | A |
c.3801+1G>A
-
|
p.?
-
|
- | 4.67 |
|
A | |
| 11952 | chr2 | 47806505 | C | G |
c.3855C>G
-
|
p.Phe1285Leu
-
|
3.0 |
|
B |