Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7393 | chr1 | 114736786 | T | C |
c.472A>G
|
p.Ile158Val
|
3.0 |
|
B | ||
| 13828 | chr1 | 114737483 | G | C |
c.390C>G
|
p.Tyr130Ter
|
- | 3.0 |
|
B | |
| 19944 | chr1 | 114737572 | CAA | C |
c.310-11_310-10del
|
-
|
2.5 |
|
B | ||
| 7226 | chr1 | 114738043 | G | C |
c.229C>G
|
p.Arg77Gly
|
- | 3.0 |
|
B | |
| 15505 | chr1 | 114739829 | G | A |
c.62C>T
|
p.Ser21Leu
|
- | 3.0 |
|
B | |
| 8259 | chr1 | 114739832 | G | A |
c.59C>T
|
p.Thr20Ile
|
- | 3.0 |
|
B | |
| 34668 | chr1 | 114741573 | G | A |
c.1-1683C>T
|
-
|
- | 3.0 |
|
B | |
| 31235 | chr1 | 114741624 | G | A |
c.1-1734C>T
|
-
|
3.0 |
|
B | ||
| 17539 | chr1 | 114994979 | GA | G |
c.2901del
|
p.Lys967AsnfsTer2
|
3.0 |
|
B | ||
| 4041 | chr1 | 115033973 | G | A |
c.163G>A
|
p.Asp55Asn
|
- | 3.0 |
|
B | |
| 31476 | chr1 | 115701298 | ATCATCATCATCT | A |
-
c.1131_1142del
|
-
p.Glu377_Asp380del
|
3.0 |
|
B | ||
| 29539 | chr1 | 115701392 | T | C |
-
c.1049A>G
|
-
p.Asp350Gly
|
- | 3.0 |
|
B | |
| 12700 | chr1 | 115702992 | C | T |
-
c.943G>A
|
-
p.Val315Ile
|
3.0 |
|
B | ||
| 26440 | chr1 | 115705207 | CG | C |
c.923del
|
p.Pro308ArgfsTer27
|
- | 3.0 |
|
B | |
| 29457 | chr1 | 115727042 | G | T |
c.687C>A
|
p.Asn229Lys
|
- | 3.0 |
|
B | |
| 12247 | chr1 | 115727121 | A | G |
c.608T>C
|
p.Val203Ala
|
- | 3.0 |
|
B | |
| 24225 | chr1 | 115732902 | C | T |
c.605G>A
|
p.Gly202Glu
|
- | 3.0 |
|
B | |
| 20829 | chr1 | 115738206 | G | A |
c.532+18C>T
|
-
|
3.0 |
|
B | ||
| 18658 | chr1 | 115740722 | A | G |
c.420+6T>C
|
-
|
1.0 |
|
B | ||
| 30719 | chr1 | 115740835 | G | C |
c.320-7C>G
|
-
|
- | 3.0 |
|
B |