Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33550 | chr16 | 2088292 | CCGGCTCCGCCACATCAAG | C |
-
c.5238_5255del
|
-
p.His1746_Arg1751del
|
3.0 |
|
B | ||
| 9265 | chr16 | 2088330 | G | A |
-
c.5259+5G>A
|
-
-
|
- | 3.0 |
|
B | |
| 27526 | chr16 | 2088563 | C | T |
-
c.5377C>T
|
-
p.Arg1793Trp
|
2.5 |
|
B | ||
| 25196 | chr16 | 2088582 | C | T |
-
c.5396C>T
|
-
p.Ser1799Leu
|
2.0 |
|
B | ||
| 30875 | chr16 | 2165864 | C | T |
c.82-15C>T
|
-
|
3.0 |
|
B | ||
| 2651 | chr16 | 2170641 | G | A |
c.259G>A
|
p.Asp87Asn
|
3.0 |
|
B | ||
| 27386 | chr16 | 2171339 | G | A |
c.424G>A
|
p.Val142Met
|
3.0 |
|
B | ||
| 18607 | chr16 | 2171365 | G | A |
c.441+9G>A
|
-
|
3.0 |
|
B | ||
| 33940 | chr16 | 2171592 | CG | C |
c.463del
|
p.Ala155ProfsTer2
|
- | 4.0 |
|
B | |
| 7400 | chr16 | 2172202 | G | A |
-
c.487G>A
|
-
p.Val163Met
|
3.0 |
|
B | ||
| 19755 | chr16 | 2172293 | G | A |
-
c.578G>A
|
-
p.Arg193Gln
|
3.0 |
|
B | ||
| 1114 | chr16 | 2172299 | C | T |
-
c.584C>T
|
-
p.Ala195Val
|
3.0 |
|
B | ||
| 12651 | chr16 | 2172612 | C | G |
-
c.794+13C>G
|
-
-
|
3.5 |
|
B | ||
| 19273 | chr16 | 2172616 | C | G |
-
c.794+17C>G
|
-
-
|
3.0 |
|
B | ||
| 32553 | chr16 | 2173323 | C | G |
-
c.936C>G
|
-
p.Ile312Met
|
- | 3.0 |
|
B | |
| 6478 | chr16 | 2173520 | T | C |
-
c.1052T>C
|
-
p.Leu351Pro
|
- | 3.0 |
|
B | |
| 35221 | chr16 | 2173791 | G | A |
-
c.1090G>A
|
-
p.Glu364Lys
|
- | 3.0 |
|
B | |
| 1217 | chr16 | 2173825 | G | C |
-
c.1124G>C
|
-
p.Gly375Ala
|
- | 3.0 |
|
B | |
| 13263 | chr16 | 2173841 | G | C |
-
c.1135+5G>C
|
-
-
|
- | 3.5 |
|
B | |
| 798 | chr16 | 2173935 | C | G |
-
c.1150C>G
|
-
p.Gln384Glu
|
- | 3.0 |
|
B |