Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24788 | chr9 | 136516100 | G | A |
c.1556-6C>T
|
-
|
- | 3.0 |
|
B | |
| 29045 | chr9 | 136517349 | T | TC |
c.1477dup
|
p.Glu493GlyfsTer19
|
- | 4.0 |
|
B | |
| 9134 | chr9 | 136517745 | G | A |
c.1441+7C>T
|
-
|
1.0 |
|
B | ||
| 30958 | chr9 | 136517784 | T | C |
c.1409A>G
|
p.Gln470Arg
|
- | 3.0 |
|
B | |
| 6832 | chr9 | 136517841 | A | G |
c.1352T>C
|
p.Ile451Thr
|
- | 3.0 |
|
B | |
| 9329 | chr9 | 136517845 | C | T |
c.1348G>A
|
p.Glu450Lys
|
3.0 |
|
B | ||
| 15732 | chr9 | 136518118 | C | T |
c.1255+19G>A
|
-
|
- | 1.0 |
|
B | |
| 33397 | chr9 | 136518136 | C | T |
c.1255+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 23698 | chr9 | 136518151 | T | C |
c.1241A>G
|
p.Asp414Gly
|
- | 3.0 |
|
B | |
| 3125 | chr9 | 136518245 | C | A |
c.1147G>T
|
p.Glu383Ter
|
- | 3.5 |
|
B | |
| 6554 | chr9 | 136518271 | T | C |
c.1121A>G
|
p.Asp374Gly
|
- | 3.0 |
|
B | |
| 5407 | chr9 | 136518617 | TAGA | T |
c.1070_1072del
|
p.Phe357del
|
3.5 |
|
B | ||
| 1144 | chr9 | 136518633 | G | A |
c.1057C>T
|
p.Arg353Cys
|
3.0 |
|
B | ||
| 29046 | chr9 | 136518718 | GACAC | G |
c.968_971del
|
p.Cys323SerfsTer307
|
- | 4.0 |
|
B | |
| 26080 | chr9 | 136518744 | G | A |
c.946C>T
|
p.His316Tyr
|
- | 3.0 |
|
B | |
| 19625 | chr9 | 136518762 | C | T |
c.928G>A
|
p.Gly310Arg
|
- | 3.0 |
|
B | |
| 1639 | chr9 | 136522892 | G | A |
c.700C>T
|
p.Arg234Cys
|
2.5 |
|
B | ||
| 8102 | chr9 | 136522969 | G | T |
c.623C>A
|
p.Ala208Asp
|
- | 3.0 |
|
B | |
| 18133 | chr9 | 136523170 | G | A |
c.422C>T
|
p.Ala141Val
|
- | 3.0 |
|
B | |
| 23896 | chr9 | 136523752 | G | A |
c.368C>T
|
p.Thr123Met
|
2.0 |
|
B |