Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33799 | chr9 | 8454571 | A | G |
c.3876-4734T>C
|
-
|
- | 3.0 |
|
B | |
| 24730 | chr9 | 8460523 | G | A |
c.3763C>T
|
p.Leu1255=
|
- | 3.0 |
|
B | |
| 24728 | chr9 | 8460531 | G | A |
c.3755C>T
|
p.Ser1252Leu
|
- | 3.0 |
|
B | |
| 26964 | chr9 | 8460546 | G | A |
c.3740C>T
|
p.Ser1247Phe
|
- | 3.0 |
|
B | |
| 1877 | chr9 | 8460558 | G | T |
c.3728C>A
|
p.Thr1243Asn
|
- | 3.0 |
|
B | |
| 992 | chr9 | 8465624 | C | G |
c.3556G>C
|
p.Val1186Leu
|
- | 3.0 |
|
B | |
| 26943 | chr9 | 8465639 | G | A |
c.3541C>T
|
p.Arg1181Cys
|
- | 3.0 |
|
B | |
| 7762 | chr9 | 8470988 | C | G |
c.3504+7G>C
|
-
|
3.0 |
|
B | ||
| 9493 | chr9 | 8470997 | C | A |
c.3502G>T
|
p.Glu1168Ter
|
- | 4.0 |
|
B | |
| 4394 | chr9 | 8471012 | C | T |
c.3487G>A
|
p.Glu1163Lys
|
- | 3.0 |
|
B | |
| 8815 | chr9 | 8484169 | A | C |
c.3363T>G
|
p.Asp1121Glu
|
- | 3.0 |
|
B | |
| 25920 | chr9 | 8484336 | G | A |
c.3196C>T
|
p.Arg1066Ter
|
- | 4.0 |
|
B | |
| 20236 | chr9 | 8484397 | T | TA |
c.3154-20dup
|
-
|
3.0 |
|
B | ||
| 20237 | chr9 | 8484397 | TA | T |
c.3154-20del
|
-
|
1.0 |
|
B | ||
| 9474 | chr9 | 8485311 | A | T |
c.3069T>A
|
p.Asn1023Lys
|
- | 3.0 |
|
B | |
| 22654 | chr9 | 8485834 | G | A |
c.2983C>T
|
p.Arg995Cys
|
1.0 |
|
B | ||
| 31461 | chr9 | 8485838 | T | G |
c.2979A>C
|
p.Lys993Asn
|
- | 3.0 |
|
B | |
| 7981 | chr9 | 8485849 | A | C |
c.2968T>G
|
p.Tyr990Asp
|
- | 3.0 |
|
B | |
| 20603 | chr9 | 8485917 | G | A |
c.2900C>T
|
p.Pro967Leu
|
3.0 |
|
B | ||
| 5714 | chr9 | 8485978 | T | C |
c.2839A>G
|
p.Arg947Gly
|
- | 3.0 |
|
B |