Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21328 | chr15 | 88033027 | C | A |
c.1415G>T
|
p.Ser472Ile
|
- | 3.0 |
|
B | |
| 24353 | chr15 | 88033031 | TGACAGCCACGG | T |
c.1400_1410del
|
p.Pro467HisfsTer4
|
- | 3.0 |
|
B | |
| 5789 | chr15 | 88035776 | C | A |
c.1397-2731G>T
|
-
|
1.0 |
|
B | ||
| 5521 | chr15 | 88089503 | C | A |
c.1396+36768G>T
|
-
|
- | 3.0 |
|
B | |
| 5337 | chr15 | 88089799 | C | G |
c.1396+36472G>C
|
-
|
- | 3.0 |
|
B | |
| 5663 | chr15 | 88126276 | A | G |
c.1391T>C
|
p.Met464Thr
|
3.0 |
|
B | ||
| 29379 | chr15 | 88126291 | C | T |
c.1376G>A
|
p.Arg459Gln
|
3.0 |
|
B | ||
| 9638 | chr15 | 88126317 | G | T |
c.1350C>A
|
p.Phe450Leu
|
- | 3.0 |
|
B | |
| 34665 | chr15 | 88127144 | G | C |
c.1293+18C>G
|
-
|
- | 3.0 |
|
B | |
| 20818 | chr15 | 88128744 | A | T |
c.1205-10T>A
|
-
|
- | 3.0 |
|
B | |
| 31000 | chr15 | 88135148 | G | A |
c.1157C>T
|
p.Thr386Ile
|
- | 3.0 |
|
B | |
| 7722 | chr15 | 88135148 | G | C |
c.1157C>G
|
p.Thr386Arg
|
3.0 |
|
B | ||
| 4158 | chr15 | 88135229 | G | A |
c.1076C>T
|
p.Ser359Phe
|
- | 3.0 |
|
B | |
| 23904 | chr15 | 88135245 | G | A |
c.1060C>T
|
p.Gln354Ter
|
- | 3.0 |
|
B | |
| 1491 | chr15 | 88135277 | C | T |
c.1028G>A
|
p.Arg343Gln
|
3.0 |
|
B | ||
| 1696 | chr15 | 88135278 | G | A |
c.1027C>T
|
p.Arg343Trp
|
3.0 |
|
B | ||
| 28574 | chr15 | 88135350 | G | T |
c.955C>A
|
p.His319Asn
|
- | 3.0 |
|
B | |
| 7542 | chr15 | 88135395 | G | A |
c.910C>T
|
p.Pro304Ser
|
3.0 |
|
B | ||
| 35691 | chr15 | 88135922 | G | A |
c.884C>T
|
p.Ala295Val
|
- | 3.0 |
|
B | |
| 1238 | chr15 | 88136525 | G | A |
c.707C>T
|
p.Ser236Leu
|
3.0 |
|
B |