Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14384 | chr12 | 51914447 | C | T |
c.634C>T
|
p.Arg212Cys
|
3.0 |
|
B | ||
| 9874 | chr12 | 51914552 | A | G |
c.739A>G
|
p.Asn247Asp
|
- | 3.0 |
|
B | |
| 12287 | chr12 | 51915339 | C | T |
c.887C>T
|
p.Pro296Leu
|
3.0 |
|
B | ||
| 32838 | chr12 | 51915366 | C | T |
c.914C>T
|
p.Ser305Phe
|
3.5 |
|
B | ||
| 22917 | chr12 | 51915514 | G | A |
c.1048+14G>A
|
-
|
- | 3.0 |
|
B | |
| 28394 | chr12 | 51916185 | G | C |
c.1198G>C
|
p.Ala400Pro
|
- | 3.5 |
|
B | |
| 32117 | chr12 | 51919042 | T | C |
c.1304T>C
|
p.Phe435Ser
|
- | 3.0 |
|
B | |
| 31501 | chr12 | 51951746 | G | A |
c.3G>A
|
p.Met1?
|
- | 4.5 |
|
B | |
| 2249 | chr12 | 51975365 | CCATGTGCGCACCTG | C |
c.196_209del
|
p.Val66ProfsTer29
|
- | 4.0 |
|
B | |
| 6520 | chr12 | 51975458 | C | G |
c.285C>G
|
p.Cys95Trp
|
- | 3.0 |
|
B | |
| 20968 | chr12 | 51976313 | C | T |
c.332-14C>T
|
-
|
- | 3.0 |
|
B | |
| 5401 | chr12 | 51980993 | C | A |
c.605C>A
|
p.Thr202Lys
|
- | 3.0 |
|
B | |
| 27767 | chr12 | 51981012 | T | TTTG |
c.626_627insGTT
|
p.Leu209dup
|
- | 3.0 |
|
B | |
| 32662 | chr12 | 51981033 | G | T |
c.645G>T
|
p.Lys215Asn
|
- | 3.0 |
|
B | |
| 30447 | chr12 | 51981035 | G | A |
c.647G>A
|
p.Gly216Asp
|
- | 3.0 |
|
B | |
| 1010 | chr12 | 51981043 | G | C |
c.655G>C
|
p.Gly219Arg
|
- | 3.0 |
|
B | |
| 22602 | chr12 | 51981089 | A | C |
c.701A>C
|
p.Lys234Thr
|
- | 3.0 |
|
B | |
| 12944 | chr12 | 51981146 | C | T |
c.758C>T
|
p.Thr253Met
|
3.0 |
|
B | ||
| 17885 | chr12 | 51982727 | GTCTCTGCTGC | G |
c.812-1271_812-1262del
|
-
|
- | 3.5 |
|
B | |
| 27436 | chr12 | 51984091 | G | T |
c.904G>T
|
p.Glu302Ter
|
- | 4.0 |
|
B |