Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4139 | chr12 | 18496055 | C | T |
c.2794-7C>T
|
-
|
3.0 |
|
B | ||
| 6725 | chr12 | 18496117 | C | G |
c.2849C>G
|
p.Ala950Gly
|
- | 3.0 |
|
B | |
| 5004 | chr12 | 18497634 | C | T |
c.2902C>T
|
p.Arg968Cys
|
3.0 |
|
B | ||
| 31628 | chr12 | 18497653 | T | A |
c.2921T>A
|
p.Leu974Gln
|
- | 3.0 |
|
B | |
| 12361 | chr12 | 18497683 | G | C |
c.2951G>C
|
p.Trp984Ser
|
- | 3.0 |
|
B | |
| 18322 | chr12 | 18497700 | G | A |
c.2968G>A
|
p.Asp990Asn
|
3.0 |
|
B | ||
| 17800 | chr12 | 18497737 | G | A |
c.3005G>A
|
p.Gly1002Glu
|
- | 3.0 |
|
B | |
| 25924 | chr12 | 18497751 | C | A |
c.3016+3C>A
|
-
|
- | 3.0 |
|
B | |
| 23758 | chr12 | 18503325 | C | T |
c.3061C>T
|
p.His1021Tyr
|
3.0 |
|
B | ||
| 35497 | chr12 | 18503335 | C | G |
c.3071C>G
|
p.Ser1024Cys
|
- | 3.0 |
|
B | |
| 5251 | chr12 | 18503368 | T | A |
c.3104T>A
|
p.Ile1035Asn
|
- | 3.0 |
|
B | |
| 26138 | chr12 | 18505285 | G | A |
c.3154-7G>A
|
-
|
- | 3.0 |
|
B | |
| 2628 | chr12 | 18505314 | C | T |
c.3176C>T
|
p.Ser1059Phe
|
3.0 |
|
B | ||
| 10474 | chr12 | 18505402 | G | A |
c.3264G>A
|
p.Met1088Ile
|
3.0 |
|
B | ||
| 5042 | chr12 | 18538161 | G | A |
c.3329G>A
|
p.Arg1110Gln
|
3.0 |
|
B | ||
| 5536 | chr12 | 18538245 | A | C |
c.3413A>C
|
p.Glu1138Ala
|
- | 3.0 |
|
B | |
| 10796 | chr12 | 18538321 | C | T |
c.3480+9C>T
|
-
|
- | 3.0 |
|
B | |
| 3141 | chr12 | 18546359 | C | T |
c.3517C>T
|
p.Gln1173Ter
|
- | 3.5 |
|
B | |
| 27568 | chr12 | 18546383 | A | T |
c.3541A>T
|
p.Asn1181Tyr
|
- | 3.0 |
|
B | |
| 25507 | chr12 | 18546384 | A | G |
c.3542A>G
|
p.Asn1181Ser
|
3.0 |
|
B |