Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9868 | chr2 | 215364905 | A | G |
c.7225T>C
|
p.Ser2409Pro
|
- | 3.0 |
|
B | |
| 29612 | chr2 | 215365546 | G | C |
c.7103C>G
|
p.Thr2368Arg
|
- | 3.0 |
|
B | |
| 3117 | chr2 | 215367950 | C | A |
c.6931G>T
|
p.Glu2311Ter
|
- | 3.0 |
|
B | |
| 14377 | chr2 | 215367959 | C | T |
c.6922G>A
|
p.Val2308Ile
|
3.0 |
|
B | ||
| 769 | chr2 | 215370413 | G | A |
c.6734C>T
|
p.Ser2245Phe
|
3.0 |
|
B | ||
| 24515 | chr2 | 215372117 | G | A |
c.6506C>T
|
p.Pro2169Leu
|
2.5 |
|
B | ||
| 14102 | chr2 | 215372234 | G | C |
c.6389C>G
|
p.Thr2130Ser
|
- | 3.0 |
|
B | |
| 13449 | chr2 | 215380839 | G | C |
c.5406C>G
|
p.Ser1802Arg
|
3.0 |
|
B | ||
| 27422 | chr2 | 215380952 | G | A |
c.5293C>T
|
p.His1765Tyr
|
- | 3.0 |
|
B | |
| 557 | chr2 | 215380997 | C | T |
c.5248G>A
|
p.Val1750Ile
|
- | 3.0 |
|
B | |
| 2207 | chr2 | 215382223 | G | T |
c.5153C>A
|
p.Thr1718Asn
|
- | 3.0 |
|
B | |
| 30085 | chr2 | 215382335 | G | A |
c.5051-10C>T
|
-
|
3.0 |
|
B | ||
| 18262 | chr2 | 215384044 | G | T |
c.4870C>A
|
p.Pro1624Thr
|
- | 3.0 |
|
B | |
| 20295 | chr2 | 215384980 | G | GA |
c.4613-5dup
|
-
|
2.0 |
|
B | ||
| 19401 | chr2 | 215384980 | GA | G |
c.4613-5del
|
-
|
3.0 |
|
B | ||
| 8981 | chr2 | 215388274 | ACTACATATTCTGTACCAGGCAGGAGAT | A |
c.4253_4279del
|
p.Asn1418_Val1427delinsMet
|
- | 3.0 |
|
B | |
| 5119 | chr2 | 215392955 | G | A |
c.4045C>T
|
p.Pro1349Ser
|
- | 3.0 |
|
B | |
| 16643 | chr2 | 215392967 | C | T |
c.4033G>A
|
p.Gly1345Ser
|
2.0 |
|
B | ||
| 1959 | chr2 | 215393117 | T | C |
c.3883A>G
|
p.Ile1295Val
|
- | 3.0 |
|
B | |
| 12806 | chr2 | 215394647 | T | A |
c.3677A>T
|
p.His1226Leu
|
- | 3.0 |
|
B |