Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19965 | chr2 | 178636002 | C | T |
c.41569G>A
|
p.Ala13857Thr
|
2.0 |
|
B | ||
| 31251 | chr2 | 178636164 | C | T |
c.41407G>A
|
p.Glu13803Lys
|
3.0 |
|
B | ||
| 18556 | chr2 | 178636439 | C | T |
c.41288G>A
|
p.Gly13763Glu
|
- | 3.0 |
|
B | |
| 9859 | chr2 | 178636481 | TG | T |
c.41245del
|
p.Gln13749AsnfsTer27
|
- | 3.0 |
|
B | |
| 25600 | chr2 | 178636561 | G | A |
c.41166C>T
|
p.Asp13722=
|
2.0 |
|
B | ||
| 20521 | chr2 | 178636592 | G | A |
c.41135C>T
|
p.Pro13712Leu
|
3.0 |
|
B | ||
| 20522 | chr2 | 178636593 | G | A |
c.41134C>T
|
p.Pro13712Ser
|
- | 3.0 |
|
B | |
| 9889 | chr2 | 178636757 | C | A |
c.40970G>T
|
p.Arg13657Ile
|
- | 3.0 |
|
B | |
| 22081 | chr2 | 178639791 | G | A |
c.40787-3C>T
|
-
|
3.0 |
|
B | ||
| 22262 | chr2 | 178640048 | C | T |
c.40786G>A
|
p.Glu13596Lys
|
- | 3.0 |
|
B | |
| 17129 | chr2 | 178640568 | C | T |
c.40696G>A
|
p.Glu13566Lys
|
3.0 |
|
B | ||
| 28116 | chr2 | 178641247 | GT | G |
c.40626del
|
p.Lys13542AsnfsTer56
|
- | 3.0 |
|
B | |
| 31453 | chr2 | 178642275 | C | T |
c.40520G>A
|
p.Arg13507His
|
3.0 |
|
B | ||
| 33689 | chr2 | 178642276 | G | A |
c.40519C>T
|
p.Arg13507Cys
|
2.0 |
|
B | ||
| 14881 | chr2 | 178644577 | G | A |
c.40448C>T
|
p.Pro13483Leu
|
3.0 |
|
B | ||
| 30766 | chr2 | 178646556 | C | T |
c.40226G>A
|
p.Arg13409His
|
3.0 |
|
B | ||
| 26664 | chr2 | 178647117 | T | C |
c.40169A>G
|
p.Tyr13390Cys
|
- | 3.0 |
|
B | |
| 21599 | chr2 | 178649268 | G | A |
c.40037C>T
|
p.Pro13346Leu
|
- | 3.0 |
|
B | |
| 28181 | chr2 | 178649290 | GTTCT | G |
c.40011_40014del
|
p.Lys13337AsnfsTer51
|
- | 3.0 |
|
B | |
| 24880 | chr2 | 178649801 | A | G |
c.39895+16T>C
|
-
|
- | 3.0 |
|
B |