Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17265 | chr4 | 55088944 | C | T |
c.3434G>A
|
p.Gly1145Glu
|
- | 3.0 |
|
B | |
| 25048 | chr4 | 55088961 | C | T |
c.3417G>A
|
p.Met1139Ile
|
- | 3.0 |
|
B | |
| 8382 | chr4 | 55089465 | G | A |
c.3313C>T
|
p.Pro1105Ser
|
- | 3.0 |
|
B | |
| 9589 | chr4 | 55089708 | C | A |
c.3287G>T
|
p.Trp1096Leu
|
- | 3.0 |
|
B | |
| 11179 | chr4 | 55089809 | G | A |
c.3193-7C>T
|
-
|
- | 3.0 |
|
B | |
| 8928 | chr4 | 55089809 | G | T |
c.3193-7C>A
|
-
|
- | 3.0 |
|
B | |
| 25760 | chr4 | 55089814 | G | C |
c.3193-12C>G
|
-
|
- | 3.0 |
|
B | |
| 5065 | chr4 | 55090045 | G | T |
c.3103C>A
|
p.Leu1035Ile
|
3.0 |
|
B | ||
| 4196 | chr4 | 55090053 | C | T |
c.3095G>A
|
p.Arg1032Gln
|
4.0 |
|
B | ||
| 32368 | chr4 | 55092624 | G | A |
c.3062C>T
|
p.Ser1021Leu
|
3.0 |
|
B | ||
| 1276 | chr4 | 55094889 | G | A |
c.2884C>T
|
p.Arg962Cys
|
3.0 |
|
B | ||
| 14748 | chr4 | 55094907 | G | A |
c.2866C>T
|
p.Pro956Ser
|
- | 3.0 |
|
B | |
| 17772 | chr4 | 55094942 | C | T |
c.2831G>A
|
p.Arg944Gln
|
3.0 |
|
B | ||
| 18087 | chr4 | 55095645 | C | T |
c.2749G>A
|
p.Glu917Lys
|
- | 3.0 |
|
B | |
| 31621 | chr4 | 55095671 | G | T |
c.2729-6C>A
|
-
|
- | 3.0 |
|
B | |
| 13700 | chr4 | 55096344 | T | C |
c.2615-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 6445 | chr4 | 55097705 | G | T |
c.2571C>A
|
p.Asp857Glu
|
- | 3.0 |
|
B | |
| 27514 | chr4 | 55097728 | C | T |
c.2548G>A
|
p.Glu850Lys
|
- | 3.0 |
|
B | |
| 35162 | chr4 | 55098185 | G | T |
c.2461C>A
|
p.Pro821Thr
|
- | 3.0 |
|
B | |
| 19573 | chr4 | 55101876 | AT | A |
c.2266+20del
|
-
|
3.0 |
|
B |