Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14476 | chr17 | 39726676 | C | T |
c.2970+17C>T
-
|
-
-
|
3.0 |
|
B | ||
| 11783 | chr17 | 39726812 | C | T |
c.2971-3C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 18370 | chr17 | 39726948 | C | A |
c.3104C>A
-
|
p.Pro1035His
-
|
- | 3.0 |
|
B | |
| 15778 | chr17 | 39727457 | C | A |
c.3322C>A
-
|
p.Pro1108Thr
-
|
- | 3.0 |
|
B | |
| 1784 | chr17 | 39727734 | G | A |
c.3458G>A
-
|
p.Arg1153Gln
-
|
3.0 |
|
B | ||
| 2152 | chr17 | 39727757 | C | T |
c.3481C>T
-
|
p.Arg1161Ter
-
|
3.0 |
|
B | ||
| 16831 | chr17 | 39727955 | C | T |
c.3679C>T
-
|
p.Pro1227Ser
-
|
- | 3.0 |
|
B | |
| 16214 | chr17 | 39727961 | G | C |
c.3685G>C
-
|
p.Glu1229Gln
-
|
- | 3.0 |
|
B | |
| 5221 | chr17 | 39744649 | G | A |
c.898G>A
|
p.Gly300Ser
|
3.0 |
|
B | ||
| 20858 | chr17 | 39765962 | C | T |
c.1358G>A
|
p.Arg453Gln
|
3.0 |
|
B | ||
| 24485 | chr17 | 39766025 | G | A |
c.1295C>T
|
p.Pro432Leu
|
- | 3.0 |
|
B | |
| 22387 | chr17 | 39766187 | G | A |
c.1133C>T
|
p.Ser378Phe
|
- | 3.0 |
|
B | |
| 21198 | chr17 | 39766325 | G | T |
c.995C>A
|
p.Ser332Ter
|
- | 3.5 |
|
B | |
| 13066 | chr17 | 39766358 | C | T |
c.962G>A
|
p.Arg321His
|
3.0 |
|
B | ||
| 15722 | chr17 | 39766444 | A | T |
c.876T>A
|
p.Tyr292Ter
|
- | 3.5 |
|
B | |
| 29664 | chr17 | 39777680 | C | T |
c.797G>A
|
p.Arg266Gln
|
3.0 |
|
B | ||
| 16455 | chr17 | 39777760 | C | T |
c.717G>A
|
p.Ala239=
|
3.0 |
|
B | ||
| 23591 | chr17 | 39788296 | C | T |
c.671G>A
|
p.Cys224Tyr
|
- | 3.0 |
|
B | |
| 14227 | chr17 | 39791427 | C | T |
c.581G>A
|
p.Arg194Lys
|
- | 3.0 |
|
B | |
| 20159 | chr17 | 39791520 | C | T |
c.488G>A
|
p.Arg163His
|
3.0 |
|
B |