Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4480 | chr2 | 195972309 | C | T |
c.1991G>A
|
p.Gly664Glu
|
3.0 |
|
B | ||
| 4641 | chr2 | 196657137 | G | A |
c.576+1G>A
|
p.?
|
3.0 |
|
B | ||
| 19548 | chr2 | 196666794 | CA | C |
c.849del
|
p.Glu284LysfsTer14
|
2.5 |
|
B | ||
| 4988 | chr2 | 197392329 | G | A |
c.3889C>T
|
p.Arg1297Cys
|
3.0 |
|
B | ||
| 3780 | chr2 | 197392418 | T | A |
c.3800A>T
|
p.Lys1267Ile
|
- | 3.0 |
|
B | |
| 8447 | chr2 | 197393133 | C | A |
c.3595G>T
|
p.Val1199Phe
|
- | 3.0 |
|
B | |
| 17449 | chr2 | 197393141 | G | A |
c.3587C>T
|
p.Ser1196Leu
|
- | 3.0 |
|
B | |
| 4330 | chr2 | 197396084 | G | A |
c.3511C>T
|
p.Pro1171Ser
|
- | 3.0 |
|
B | |
| 15079 | chr2 | 197398093 | C | G |
c.3158G>C
|
p.Arg1053Thr
|
- | 3.0 |
|
B | |
| 9192 | chr2 | 197398120 | A | C |
c.3135-4T>G
|
-
|
- | 3.0 |
|
B | |
| 24170 | chr2 | 197400349 | G | C |
c.2804C>G
|
p.Thr935Arg
|
- | 3.0 |
|
B | |
| 30822 | chr2 | 197400361 | T | C |
c.2792A>G
|
p.Gln931Arg
|
- | 3.0 |
|
B | |
| 6925 | chr2 | 197400741 | A | G |
c.2692T>C
|
p.Tyr898His
|
- | 3.0 |
|
B | |
| 7733 | chr2 | 197400765 | C | G |
c.2668G>C
|
p.Glu890Gln
|
- | 3.0 |
|
B | |
| 8215 | chr2 | 197400807 | T | C |
c.2626A>G
|
p.Met876Val
|
3.0 |
|
B | ||
| 12066 | chr2 | 197400922 | AG | A |
c.2510del
|
p.Thr837MetfsTer8
|
- | 3.0 |
|
B | |
| 34884 | chr2 | 197401488 | G | A |
c.2408C>T
|
p.Ala803Val
|
- | 3.0 |
|
B | |
| 23936 | chr2 | 197401882 | C | G |
c.2230G>C
|
p.Ala744Pro
|
3.0 |
|
B | ||
| 30587 | chr2 | 197401968 | G | A |
c.2223+17C>T
|
-
|
- | 3.0 |
|
B | |
| 25682 | chr2 | 197401998 | TGGC | T |
c.2207_2209del
|
p.Arg736del
|
- | 3.0 |
|
B |