Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11271 | chr2 | 140501848 | TA | T |
c.8688del
|
p.Phe2896LeufsTer32
|
- | 3.5 |
|
B | |
| 24969 | chr2 | 140501893 | A | T |
c.8663-19T>A
|
-
|
3.0 |
|
B | ||
| 13137 | chr2 | 140502982 | G | T |
c.8643C>A
|
p.Asn2881Lys
|
- | 3.0 |
|
B | |
| 1854 | chr2 | 140503059 | G | A |
c.8566C>T
|
p.Arg2856Trp
|
3.0 |
|
B | ||
| 30141 | chr2 | 140503103 | C | T |
c.8522G>A
|
p.Gly2841Glu
|
3.0 |
|
B | ||
| 33044 | chr2 | 140503111 | C | T |
c.8522-8G>A
|
-
|
2.0 |
|
B | ||
| 13086 | chr2 | 140506797 | A | C |
c.8520T>G
|
p.Cys2840Trp
|
- | 3.0 |
|
B | |
| 11406 | chr2 | 140506913 | T | G |
c.8404A>C
|
p.Asn2802His
|
- | 3.0 |
|
B | |
| 19386 | chr2 | 140509925 | T | C |
c.8398+3A>G
|
-
|
- | 3.0 |
|
B | |
| 2658 | chr2 | 140509937 | C | A |
c.8389G>T
|
p.Ala2797Ser
|
- | 3.0 |
|
B | |
| 34560 | chr2 | 140509997 | G | A |
c.8329C>T
|
p.Arg2777Ter
|
4.0 |
|
B | ||
| 32691 | chr2 | 140510011 | C | T |
c.8315G>A
|
p.Arg2772His
|
3.0 |
|
B | ||
| 26627 | chr2 | 140510017 | C | G |
c.8309G>C
|
p.Gly2770Ala
|
- | 3.0 |
|
B | |
| 32836 | chr2 | 140510038 | G | A |
c.8288C>T
|
p.Ala2763Val
|
- | 3.0 |
|
B | |
| 31452 | chr2 | 140510065 | C | A |
c.8270-9G>T
|
-
|
- | 3.0 |
|
B | |
| 7778 | chr2 | 140514649 | T | G |
c.8269+4A>C
|
-
|
- | 3.0 |
|
B | |
| 32006 | chr2 | 140514662 | T | C |
c.8260A>G
|
p.Ser2754Gly
|
- | 3.0 |
|
B | |
| 11068 | chr2 | 140514737 | C | T |
c.8185G>A
|
p.Ala2729Thr
|
3.0 |
|
B | ||
| 4189 | chr2 | 140514745 | GC | G |
c.8176del
|
p.Ala2726LeufsTer24
|
- | 4.0 |
|
B | |
| 30973 | chr2 | 140514769 | G | A |
c.8153C>T
|
p.Ser2718Phe
|
3.0 |
|
B |