Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26221 | chr2 | 140951908 | C | G |
c.2920G>C
|
p.Val974Leu
|
- | 3.0 |
|
B | |
| 27692 | chr2 | 140982208 | C | G |
c.2839G>C
|
p.Asp947His
|
- | 3.0 |
|
B | |
| 7185 | chr2 | 140982244 | C | A |
c.2803G>T
|
p.Gly935Ter
|
- | 4.0 |
|
B | |
| 1805 | chr2 | 140982256 | G | T |
c.2791C>A
|
p.Gln931Lys
|
3.0 |
|
B | ||
| 2719 | chr2 | 140982266 | G | C |
c.2781C>G
|
p.Cys927Trp
|
- | 3.0 |
|
B | |
| 27691 | chr2 | 140982287 | C | T |
c.2771-11G>A
|
-
|
- | 3.0 |
|
B | |
| 15167 | chr2 | 140989544 | G | C |
c.2758C>G
|
p.Gln920Glu
|
- | 3.0 |
|
B | |
| 10765 | chr2 | 140989553 | C | A |
c.2749G>T
|
p.Glu917Ter
|
- | 4.0 |
|
B | |
| 7639 | chr2 | 140989586 | C | T |
c.2716G>A
|
p.Asp906Asn
|
- | 3.0 |
|
B | |
| 7237 | chr2 | 140989648 | C | A |
c.2654G>T
|
p.Ser885Ile
|
3.0 |
|
B | ||
| 6585 | chr2 | 140994016 | C | A |
c.2623G>T
|
p.Asp875Tyr
|
- | 3.0 |
|
B | |
| 27939 | chr2 | 140994021 | C | G |
c.2618G>C
|
p.Gly873Ala
|
- | 3.0 |
|
B | |
| 1363 | chr2 | 140994060 | G | T |
c.2579C>A
|
p.Ala860Asp
|
- | 3.0 |
|
B | |
| 5028 | chr2 | 140994088 | G | A |
c.2551C>T
|
p.Arg851Cys
|
3.0 |
|
B | ||
| 31122 | chr2 | 140994118 | G | C |
c.2521C>G
|
p.Leu841Val
|
3.0 |
|
B | ||
| 9711 | chr2 | 140994129 | G | T |
c.2510C>A
|
p.Pro837His
|
- | 3.0 |
|
B | |
| 25391 | chr2 | 140994136 | C | T |
c.2504-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 21116 | chr2 | 140994143 | T | TA |
c.2504-9dup
|
-
|
3.0 |
|
B | ||
| 25750 | chr2 | 141005368 | G | A |
c.2470C>T
|
p.Gln824Ter
|
- | 4.0 |
|
B | |
| 23853 | chr2 | 141005395 | C | A |
c.2443G>T
|
p.Gly815Cys
|
- | 3.0 |
|
B |