Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27784 | chr17 | 61808696 | G | A |
c.689C>T
|
p.Ser230Leu
|
2.5 |
|
B | ||
| 21047 | chr17 | 61808731 | A | C |
c.654T>G
|
p.Cys218Trp
|
- | 3.0 |
|
B | |
| 25255 | chr17 | 61847223 | GT | G |
c.508-4del
|
-
|
- | 3.0 |
|
B | |
| 19111 | chr17 | 61849236 | G | T |
c.400C>A
|
p.Leu134Met
|
2.5 |
|
B | ||
| 19930 | chr17 | 61849272 | TA | T |
c.380-17del
|
-
|
2.0 |
|
B | ||
| 27103 | chr17 | 61857111 | TTGAAATGA | T |
c.318_325del
|
p.His107LeufsTer8
|
- | 4.0 |
|
B | |
| 28729 | chr17 | 61857143 | ATTGT | A |
c.290_293del
|
p.Asn97MetfsTer3
|
4.5 |
|
B | ||
| 21013 | chr17 | 61857196 | C | T |
c.241G>A
|
p.Glu81Lys
|
3.0 |
|
B | ||
| 9037 | chr17 | 61857230 | C | T |
c.207G>A
|
p.Gly69=
|
2.0 |
|
B | ||
| 19229 | chr17 | 61859825 | G | C |
c.176C>G
|
p.Ser59Cys
|
3.0 |
|
B | ||
| 19230 | chr17 | 61859843 | C | CT |
c.157dup
|
p.Ser53LysfsTer16
|
- | 4.0 |
|
B | |
| 19231 | chr17 | 61859894 | A | C |
c.107T>G
|
p.Leu36Ter
|
- | 4.0 |
|
B | |
| 3453 | chr17 | 62393632 | C | T |
c.355C>T
|
p.Leu119Phe
|
- | 3.0 |
|
B | |
| 4766 | chr17 | 62679868 | G | A |
c.2264G>A
|
p.Gly755Glu
|
- | 3.0 |
|
B | |
| 4286 | chr17 | 63491240 | C | T |
c.2771C>T
|
p.Ala924Val
|
- | 3.0 |
|
B | |
| 19775 | chr17 | 63634787 | A | G |
c.126+1985A>G
|
-
|
- | 3.0 |
|
B | |
| 31044 | chr17 | 63688807 | A | T |
c.797A>T
|
p.Tyr266Phe
|
- | 3.0 |
|
B | |
| 16835 | chr17 | 63688818 | G | A |
c.808G>A
|
p.Val270Ile
|
3.0 |
|
B | ||
| 16836 | chr17 | 63689535 | C | T |
c.872-9C>T
|
-
|
- | 3.0 |
|
B | |
| 11844 | chr17 | 63689559 | C | T |
c.887C>T
|
p.Pro296Leu
|
- | 3.0 |
|
B |