Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9822 | chr22 | 27796813 | G | A |
c.3731C>T
|
p.Thr1244Met
|
3.0 |
|
B | ||
| 29576 | chr22 | 27796915 | GCGCTCTTGACCGCCTCGGAGCAGC | G |
c.3605_3628del
|
p.Cys1202_Ala1210delinsSer
|
- | 3.0 |
|
B | |
| 35224 | chr22 | 27796931 | C | T |
c.3613G>A
|
p.Glu1205Lys
|
3.0 |
|
B | ||
| 27090 | chr22 | 27796958 | C | T |
c.3586G>A
|
p.Asp1196Asn
|
- | 3.0 |
|
B | |
| 618 | chr22 | 27796985 | C | T |
c.3559G>A
|
p.Val1187Ile
|
- | 3.0 |
|
B | |
| 18744 | chr22 | 27797070 | C | T |
c.3474G>A
|
p.Ala1158=
|
- | 3.0 |
|
B | |
| 22975 | chr22 | 27797079 | G | A |
c.3465C>T
|
p.Ile1155=
|
3.0 |
|
B | ||
| 10758 | chr22 | 27797147 | C | G |
c.3397G>C
|
p.Glu1133Gln
|
- | 3.0 |
|
B | |
| 22473 | chr22 | 27797154 | C | T |
c.3390G>A
|
p.Pro1130=
|
3.0 |
|
B | ||
| 9959 | chr22 | 27797165 | G | T |
c.3379C>A
|
p.Pro1127Thr
|
- | 3.0 |
|
B | |
| 12460 | chr22 | 27797273 | C | T |
c.3271G>A
|
p.Ala1091Thr
|
3.0 |
|
B | ||
| 2983 | chr22 | 27797274 | G | C |
c.3270C>G
|
p.Gly1090=
|
- | 3.0 |
|
B | |
| 9731 | chr22 | 27797429 | G | C |
c.3115C>G
|
p.Pro1039Ala
|
- | 3.0 |
|
B | |
| 28566 | chr22 | 27797590 | G | A |
c.2954C>T
|
p.Ala985Val
|
- | 3.0 |
|
B | |
| 17992 | chr22 | 27797802 | G | A |
c.2742C>T
|
p.Asp914=
|
3.0 |
|
B | ||
| 24951 | chr22 | 27798019 | G | A |
c.2525C>T
|
p.Pro842Leu
|
- | 3.0 |
|
B | |
| 7970 | chr22 | 27798052 | G | A |
c.2492C>T
|
p.Ala831Val
|
- | 3.0 |
|
B | |
| 17819 | chr22 | 27798127 | G | A |
c.2417C>T
|
p.Ser806Leu
|
- | 3.0 |
|
B | |
| 1887 | chr22 | 27798132 | C | T |
c.2412G>A
|
p.Ala804=
|
3.0 |
|
B | ||
| 3813 | chr22 | 27798361 | C | T |
c.2183G>A
|
p.Arg728His
|
3.0 |
|
B |