Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15577 | chr5 | 14358196 | G | A |
c.2065G>A
|
p.Glu689Lys
|
3.0 |
|
B | ||
| 23463 | chr5 | 14359506 | G | T |
c.2366G>T
|
p.Arg789Leu
|
- | 3.0 |
|
B | |
| 2873 | chr5 | 14364824 | A | C |
c.2754+8A>C
|
-
|
- | 3.0 |
|
B | |
| 1201 | chr5 | 14366860 | G | C |
c.2755G>C
|
p.Val919Leu
|
- | 3.0 |
|
B | |
| 21290 | chr5 | 14366882 | G | A |
c.2777G>A
|
p.Gly926Glu
|
- | 3.0 |
|
B | |
| 9615 | chr5 | 14368724 | C | T |
c.2891C>T
|
p.Ala964Val
|
3.0 |
|
B | ||
| 33691 | chr5 | 14368784 | T | C |
c.2951T>C
|
p.Met984Thr
|
- | 3.0 |
|
B | |
| 15123 | chr5 | 14368905 | G | C |
c.3066+6G>C
|
-
|
- | 3.0 |
|
B | |
| 8004 | chr5 | 14374234 | CA | C |
c.3223del
|
p.Thr1075ProfsTer11
|
- | 3.0 |
|
B | |
| 31264 | chr5 | 14374318 | C | G |
c.3306C>G
|
p.Ile1102Met
|
- | 3.0 |
|
B | |
| 34463 | chr5 | 14377992 | C | T |
c.3332-20C>T
|
-
|
- | 3.0 |
|
B | |
| 28748 | chr5 | 14381129 | G | C |
c.3448-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 12400 | chr5 | 14381182 | C | T |
c.3500C>T
|
p.Ser1167Phe
|
- | 3.0 |
|
B | |
| 16044 | chr5 | 14381187 | G | A |
c.3505G>A
|
p.Gly1169Ser
|
- | 3.0 |
|
B | |
| 21749 | chr5 | 14381200 | A | C |
c.3518A>C
|
p.Gln1173Pro
|
- | 3.0 |
|
B | |
| 26997 | chr5 | 14381213 | G | T |
c.3531G>T
|
p.Glu1177Asp
|
- | 3.0 |
|
B | |
| 6613 | chr5 | 14387421 | C | T |
c.3571-17C>T
|
-
|
- | 3.0 |
|
B | |
| 32371 | chr5 | 14387714 | G | A |
c.3766-18G>A
|
-
|
- | 3.0 |
|
B | |
| 2133 | chr5 | 14387838 | G | A |
c.3872G>A
|
p.Arg1291His
|
- | 3.0 |
|
B | |
| 5293 | chr5 | 14388661 | C | A |
c.3930C>A
|
p.Asp1310Glu
|
- | 3.0 |
|
B |