Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16272 | chr8 | 38466895 | ACC | A |
c.-89+1084_-89+1085del
|
-
|
3.0 |
|
B | ||
| 29980 | chr8 | 38466903 | C | A |
c.-89+1078G>T
|
-
|
3.0 |
|
B | ||
| 13964 | chr8 | 39913931 | C | T |
c.9C>T
|
p.His3=
|
3.0 |
|
B | ||
| 15349 | chr8 | 39914004 | C | T |
c.82C>T
|
p.Pro28Ser
|
3.0 |
|
B | ||
| 20046 | chr8 | 39917858 | CT | C |
c.88-5del
|
-
|
2.0 |
|
B | ||
| 19875 | chr8 | 39917858 | CTT | C |
c.88-6_88-5del
|
-
|
2.0 |
|
B | ||
| 29278 | chr8 | 39917884 | C | A |
c.97C>A
|
p.Pro33Thr
|
3.0 |
|
B | ||
| 24061 | chr8 | 39917961 | A | T |
c.174A>T
|
p.Arg58Ser
|
- | 3.0 |
|
B | |
| 20491 | chr8 | 39917963 | T | C |
c.176T>C
|
p.Val59Ala
|
- | 3.0 |
|
B | |
| 33947 | chr8 | 39917971 | G | C |
c.183+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 20839 | chr8 | 39918085 | C | T |
c.184-3C>T
|
-
|
- | 3.0 |
|
B | |
| 30838 | chr8 | 39918109 | C | T |
c.205C>T
|
p.His69Tyr
|
3.0 |
|
B | ||
| 35652 | chr8 | 39918194 | G | A |
c.290G>A
|
p.Gly97Glu
|
- | 3.0 |
|
B | |
| 29637 | chr8 | 39918221 | C | T |
c.303+14C>T
|
-
|
3.0 |
|
B | ||
| 23684 | chr8 | 39918834 | C | A |
c.323C>A
|
p.Ala108Asp
|
- | 3.0 |
|
B | |
| 15670 | chr8 | 39918875 | C | T |
c.364C>T
|
p.Pro122Ser
|
3.0 |
|
B | ||
| 21473 | chr8 | 39918908 | A | T |
c.397A>T
|
p.Asn133Tyr
|
- | 3.0 |
|
B | |
| 17356 | chr8 | 39920102 | C | T |
c.425C>T
|
p.Pro142Leu
|
1.5 |
|
B | ||
| 16330 | chr8 | 39922577 | C | T |
c.463C>T
|
p.Arg155Cys
|
3.0 |
|
B | ||
| 29524 | chr8 | 39923509 | G | A |
c.578G>A
|
p.Arg193Gln
|
2.5 |
|
B |