Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11013 | chr22 | 23289636 | T | C |
c.2707+15T>C
|
-
|
1.0 |
|
B | ||
| 12414 | chr22 | 23290326 | A | G |
c.2708-13A>G
|
-
|
1.0 |
|
B | ||
| 33780 | chr22 | 23290348 | C | G |
c.2717C>G
|
p.Ser906Cys
|
3.0 |
|
B | ||
| 10897 | chr22 | 23292653 | C | T |
c.2880+15C>T
|
-
|
- | 3.0 |
|
B | |
| 14648 | chr22 | 23309413 | C | T |
c.3013-11C>T
|
-
|
- | 3.0 |
|
B | |
| 6883 | chr22 | 23310360 | G | C |
c.3109G>C
|
p.Glu1037Gln
|
- | 3.0 |
|
B | |
| 2321 | chr22 | 23310387 | C | T |
c.3136C>T
|
p.Arg1046Ter
|
3.0 |
|
B | ||
| 9784 | chr22 | 23311788 | T | TCCGG |
c.3275_3278dup
|
p.Val1094ArgfsTer17
|
3.0 |
|
B | ||
| 29195 | chr22 | 23311829 | C | G |
c.3315C>G
|
p.Phe1105Leu
|
- | 3.0 |
|
B | |
| 13891 | chr22 | 23315416 | C | T |
c.3727-17C>T
|
-
|
- | 3.0 |
|
B | |
| 17427 | chr22 | 23315428 | G | A |
c.3727-5G>A
|
-
|
3.0 |
|
B | ||
| 15309 | chr22 | 23787199 | C | G |
-
c.30C>G
|
-
p.Phe10Leu
|
- | 3.0 |
|
B | |
| 19127 | chr22 | 23787234 | A | G |
-
c.65A>G
|
-
p.Asp22Gly
|
- | 3.0 |
|
B | |
| 35037 | chr22 | 23791872 | A | C |
c.210A>C
|
p.Lys70Asn
|
- | 3.0 |
|
B | |
| 19128 | chr22 | 23793627 | G | A |
c.301G>A
|
p.Asp101Asn
|
3.5 |
|
B | ||
| 2505 | chr22 | 23800941 | C | G |
c.363-3C>G
|
-
|
- | 3.5 |
|
B | |
| 25526 | chr22 | 23800990 | A | T |
c.409A>T
|
p.Asn137Tyr
|
- | 3.0 |
|
B | |
| 15153 | chr22 | 23801094 | C | T |
c.500+13C>T
|
-
|
2.0 |
|
B | ||
| 894 | chr22 | 23803347 | G | A |
c.553G>A
|
p.Val185Met
|
3.0 |
|
B | ||
| 2156 | chr22 | 23803363 | G | T |
c.569G>T
|
p.Arg190Leu
|
- | 3.0 |
|
B |