Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12362 | chr13 | 23334938 | C | T |
c.8938G>A
|
p.Ala2980Thr
|
- | 3.0 |
|
B | |
| 28125 | chr13 | 23335001 | A | C |
c.8875T>G
|
p.Phe2959Val
|
- | 3.0 |
|
B | |
| 29024 | chr13 | 23335081 | C | A |
c.8795G>T
|
p.Arg2932Leu
|
- | 3.0 |
|
B | |
| 19730 | chr13 | 23335082 | GT | G |
c.8793del
|
p.Lys2931AsnfsTer22
|
3.0 |
|
B | ||
| 28395 | chr13 | 23335201 | G | A |
c.8675C>T
|
p.Ala2892Val
|
- | 3.0 |
|
B | |
| 15917 | chr13 | 23335405 | G | A |
c.8471C>T
|
p.Ser2824Leu
|
3.0 |
|
B | ||
| 23076 | chr13 | 23335565 | C | T |
c.8311G>A
|
p.Asp2771Asn
|
- | 3.0 |
|
B | |
| 25194 | chr13 | 23335636 | A | AT |
c.8239dup
|
p.Ile2747AsnfsTer5
|
3.0 |
|
B | ||
| 29244 | chr13 | 23335685 | G | A |
c.8191C>T
|
p.Arg2731Cys
|
2.5 |
|
B | ||
| 20816 | chr13 | 23335732 | G | A |
c.8144C>T
|
p.Ser2715Phe
|
- | 3.0 |
|
B | |
| 17144 | chr13 | 23335769 | G | A |
c.8107C>T
|
p.Arg2703Cys
|
3.0 |
|
B | ||
| 18978 | chr13 | 23335886 | C | T |
c.7990G>A
|
p.Gly2664Arg
|
- | 3.0 |
|
B | |
| 20617 | chr13 | 23335895 | T | C |
c.7981A>G
|
p.Ile2661Val
|
3.0 |
|
B | ||
| 14688 | chr13 | 23335969 | G | A |
c.7907C>T
|
p.Pro2636Leu
|
- | 3.0 |
|
B | |
| 12917 | chr13 | 23336053 | C | T |
c.7823G>A
|
p.Gly2608Glu
|
- | 3.0 |
|
B | |
| 1996 | chr13 | 23336093 | G | T |
c.7783C>A
|
p.Pro2595Thr
|
3.0 |
|
B | ||
| 30341 | chr13 | 23336162 | C | G |
c.7714G>C
|
p.Val2572Leu
|
- | 3.0 |
|
B | |
| 8812 | chr13 | 23336776 | G | A |
c.7100C>T
|
p.Ala2367Val
|
2.5 |
|
B | ||
| 14783 | chr13 | 23336933 | T | C |
c.6943A>G
|
p.Ile2315Val
|
- | 3.0 |
|
B | |
| 5849 | chr13 | 23337158 | A | C |
c.6718T>G
|
p.Phe2240Val
|
- | 3.0 |
|
B |