Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5223 | chr17 | 82411522 | G | A |
c.313C>T
|
p.Pro105Ser
|
3.0 |
|
B | ||
| 4546 | chr17 | 82472675 | C | T |
c.497C>T
|
p.Pro166Leu
|
- | 3.0 |
|
B | |
| 3094 | chr17 | 82830155 | G | T |
c.1318+15221G>T
c.2159C>A
|
-
p.Ala720Asp
|
- | 3.0 |
|
B | |
| 10217 | chr17 | 82830365 | CG | C |
c.1318+15433del
c.1948del
|
-
p.Arg650GlyfsTer21
|
- | 4.0 |
|
B | |
| 35554 | chr17 | 82830499 | G | T |
c.1318+15565G>T
c.1815C>A
|
-
p.Asp605Glu
|
- | 3.0 |
|
B | |
| 30326 | chr17 | 82830591 | C | T |
c.1318+15657C>T
c.1723G>A
|
-
p.Ala575Thr
|
- | 3.0 |
|
B | |
| 11250 | chr17 | 82830612 | A | T |
c.1318+15678A>T
c.1702T>A
|
-
p.Phe568Ile
|
3.0 |
|
B | ||
| 3812 | chr17 | 82830721 | C | T |
c.1318+15787C>T
c.1593G>A
|
-
p.Thr531=
|
3.0 |
|
B | ||
| 15952 | chr17 | 82830812 | G | A |
c.1318+15878G>A
c.1502C>T
|
-
p.Ala501Val
|
- | 3.0 |
|
B | |
| 12207 | chr17 | 82830846 | G | A |
c.1318+15912G>A
c.1468C>T
|
-
p.Pro490Ser
|
- | 3.0 |
|
B | |
| 9143 | chr17 | 82831592 | G | A |
c.1318+16658G>A
c.863C>T
|
-
p.Pro288Leu
|
1.0 |
|
B | ||
| 9144 | chr17 | 82831752 | T | C |
c.1318+16818T>C
c.703A>G
|
-
p.Met235Val
|
1.0 |
|
B | ||
| 2917 | chr17 | 82831823 | G | A |
c.1318+16889G>A
c.632C>T
|
-
p.Ser211Leu
|
- | 3.0 |
|
B | |
| 32555 | chr17 | 82832093 | C | T |
c.1318+17159C>T
c.362G>A
|
-
p.Gly121Glu
|
- | 3.0 |
|
B | |
| 5507 | chr17 | 82832136 | C | T |
c.1318+17202C>T
c.319G>A
|
-
p.Ala107Thr
|
- | 3.0 |
|
B | |
| 14526 | chr17 | 82832210 | G | A |
c.1318+17276G>A
c.245C>T
|
-
p.Thr82Met
|
3.0 |
|
B | ||
| 21240 | chr17 | 82832295 | T | G |
c.1318+17361T>G
c.160A>C
|
-
p.Thr54Pro
|
- | 3.0 |
|
B | |
| 4773 | chr18 | 333047 | T | A |
c.1913A>T
|
p.Lys638Met
|
- | 3.0 |
|
B | |
| 1532 | chr18 | 662146 | G | A |
c.280G>A
|
p.Gly94Arg
|
- | 3.0 |
|
B | |
| 28277 | chr18 | 662182 | G | A |
c.316G>A
|
p.Val106Met
|
3.0 |
|
B |