Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31098 | chr2 | 147917373 | C | T |
c.763C>T
|
p.Arg255Ter
|
- | 4.0 |
|
B | |
| 4922 | chr2 | 147917426 | G | A |
c.816G>A
|
p.Lys272=
|
- | 3.5 |
|
B | |
| 16419 | chr2 | 147918427 | T | G |
c.817-20T>G
|
-
|
- | 3.0 |
|
B | |
| 25490 | chr2 | 147918432 | T | G |
c.817-15T>G
|
-
|
- | 3.0 |
|
B | |
| 27752 | chr2 | 147918451 | C | G |
c.821C>G
|
p.Ser274Ter
|
- | 4.0 |
|
B | |
| 31715 | chr2 | 147918531 | G | A |
c.901G>A
|
p.Ala301Thr
|
- | 3.0 |
|
B | |
| 13834 | chr2 | 147918565 | A | G |
c.935A>G
|
p.Asp312Gly
|
- | 3.0 |
|
B | |
| 2346 | chr2 | 147918593 | G | T |
c.962+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 31655 | chr2 | 147920277 | G | A |
c.1010G>A
|
p.Cys337Tyr
|
- | 3.0 |
|
B | |
| 1333 | chr2 | 147922988 | T | C |
c.1093T>C
|
p.Tyr365His
|
- | 3.0 |
|
B | |
| 7228 | chr2 | 147923067 | G | A |
c.1172G>A
|
p.Gly391Glu
|
- | 3.0 |
|
B | |
| 24364 | chr2 | 147923071 | A | T |
c.1176A>T
|
p.Leu392Phe
|
- | 3.0 |
|
B | |
| 2707 | chr2 | 147923094 | G | A |
c.1199G>A
|
p.Arg400His
|
3.0 |
|
B | ||
| 7412 | chr2 | 147923112 | G | GT |
c.1216+2dup
|
-
|
- | 3.5 |
|
B | |
| 5060 | chr2 | 147926062 | G | C |
c.1248G>C
-
|
p.Glu416Asp
-
|
- | 3.0 |
|
B | |
| 1005 | chr2 | 147926100 | AG | A |
c.1288del
-
|
p.Glu430LysfsTer12
-
|
- | 4.0 |
|
B | |
| 33767 | chr2 | 147926104 | A | AGTTGTTGTGCATAAAAAAAAGAGGCCTGTTTTAAGAGATTATTGGCAGAAACATGCT |
c.1293_1347+2dup
-
|
-
-
|
- | 3.5 |
|
B | |
| 1332 | chr2 | 147926116 | T | TA |
c.1310dup
-
|
p.Arg438GlufsTer19
-
|
- | 4.0 |
|
B | |
| 11273 | chr2 | 147926116 | TA | T |
c.1310del
-
|
p.Lys437ArgfsTer5
-
|
3.5 |
|
B | ||
| 10038 | chr2 | 147926116 | TAA | T |
c.1309_1310del
-
|
p.Lys437GlufsTer19
-
|
- | 3.5 |
|
B |