Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24769 | chr17 | 59936449 | C | CT |
c.1042-6dup
|
-
|
3.0 |
|
B | ||
| 8996 | chr17 | 60600677 | C | G |
c.263C>G
|
p.Pro88Arg
|
3.0 |
|
B | ||
| 6549 | chr17 | 60600692 | G | A |
c.278G>A
|
p.Arg93His
|
3.0 |
|
B | ||
| 9397 | chr17 | 60600763 | C | G |
c.349C>G
|
p.Arg117Gly
|
2.5 |
|
B | ||
| 26636 | chr17 | 60600889 | AAGTTCCCTGGCTTGTTTGGCGCCCGCCCCTTTTTC | A |
c.472+6_472+40del
|
-
|
- | 3.0 |
|
B | |
| 16904 | chr17 | 60623620 | G | C |
c.572G>C
|
p.Gly191Ala
|
- | 3.0 |
|
B | |
| 25929 | chr17 | 60623737 | G | T |
c.689G>T
|
p.Gly230Val
|
- | 3.0 |
|
B | |
| 4278 | chr17 | 60633857 | A | T |
c.706A>T
|
p.Met236Leu
|
3.0 |
|
B | ||
| 34185 | chr17 | 60633995 | T | C |
c.826+18T>C
|
-
|
- | 3.0 |
|
B | |
| 6306 | chr17 | 60656602 | G | A |
c.1021G>A
|
p.Glu341Lys
|
- | 3.0 |
|
B | |
| 15108 | chr17 | 60663004 | G | T |
c.1270G>T
|
p.Glu424Ter
|
3.0 |
|
B | ||
| 11928 | chr17 | 60663009 | T | TC |
c.1277dup
|
p.Trp427MetfsTer7
|
- | 3.0 |
|
B | |
| 8247 | chr17 | 60663014 | G | A |
c.1280G>A
|
p.Trp427Ter
|
3.0 |
|
B | ||
| 8847 | chr17 | 60663040 | A | AT |
c.1307dup
|
p.Pro437ThrfsTer6
|
3.0 |
|
B | ||
| 17024 | chr17 | 60663071 | C | A |
c.1337C>A
|
p.Ser446Ter
|
3.5 |
|
B | ||
| 9500 | chr17 | 60663073 | G | T |
c.1339G>T
|
p.Glu447Ter
|
3.0 |
|
B | ||
| 19774 | chr17 | 60663077 | AT | A |
c.1349del
|
p.Leu450Ter
|
3.0 |
|
B | ||
| 23727 | chr17 | 60663106 | C | T |
c.1372C>T
|
p.Arg458Ter
|
4.0 |
|
B | ||
| 11935 | chr17 | 60663118 | C | T |
c.1384C>T
|
p.Gln462Ter
|
3.0 |
|
B | ||
| 22180 | chr17 | 60663166 | TGCGCTAAA | T |
c.1435_1442del
|
p.Ala479ProfsTer7
|
- | 3.0 |
|
B |