Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12251 | chr2 | 21005388 | A | C |
c.11480T>G
|
p.Leu3827Arg
|
- | 3.0 |
|
B | |
| 25472 | chr2 | 21005397 | T | C |
c.11471A>G
|
p.Gln3824Arg
|
- | 3.0 |
|
B | |
| 9966 | chr2 | 21005487 | A | C |
c.11381T>G
|
p.Val3794Gly
|
- | 3.0 |
|
B | |
| 25038 | chr2 | 21005506 | C | T |
c.11362G>A
|
p.Glu3788Lys
|
2.5 |
|
B | ||
| 13210 | chr2 | 21005668 | C | G |
c.11200G>C
|
p.Gly3734Arg
|
- | 3.0 |
|
B | |
| 35286 | chr2 | 21005727 | G | C |
c.11141C>G
|
p.Pro3714Arg
|
3.0 |
|
B | ||
| 14315 | chr2 | 21005935 | G | A |
c.10933C>T
|
p.Gln3645Ter
|
- | 3.0 |
|
B | |
| 26486 | chr2 | 21005974 | TG | T |
c.10893del
|
p.Arg3632AspfsTer34
|
- | 3.0 |
|
B | |
| 20937 | chr2 | 21005978 | C | A |
c.10890G>T
|
p.Lys3630Asn
|
3.0 |
|
B | ||
| 21590 | chr2 | 21006144 | C | T |
c.10724G>A
|
p.Gly3575Asp
|
3.0 |
|
B | ||
| 13667 | chr2 | 21006180 | C | G |
c.10688G>C
|
p.Trp3563Ser
|
- | 3.0 |
|
B | |
| 25146 | chr2 | 21006186 | G | A |
c.10682C>T
|
p.Ser3561Phe
|
- | 3.0 |
|
B | |
| 28086 | chr2 | 21006196 | G | A |
c.10672C>T
|
p.Arg3558Cys
|
3.0 |
|
B | ||
| 16527 | chr2 | 21006213 | C | T |
c.10655G>A
|
p.Gly3552Glu
|
3.0 |
|
B | ||
| 21838 | chr2 | 21006269 | C | A |
c.10599G>T
|
p.Gln3533His
|
- | 3.0 |
|
B | |
| 34053 | chr2 | 21006360 | G | A |
c.10508C>T
|
p.Ser3503Leu
|
2.5 |
|
B | ||
| 30071 | chr2 | 21006601 | C | T |
c.10267G>A
|
p.Val3423Met
|
2.5 |
|
B | ||
| 18544 | chr2 | 21006765 | G | A |
c.10103C>T
|
p.Ser3368Phe
|
3.0 |
|
B | ||
| 24838 | chr2 | 21006882 | A | G |
c.9986T>C
|
p.Ile3329Thr
|
- | 3.0 |
|
B | |
| 28228 | chr2 | 21006964 | A | C |
c.9904T>G
|
p.Leu3302Val
|
- | 3.0 |
|
B |