Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17462 | chr17 | 16075681 | T | G |
c.3523A>C
|
p.Thr1175Pro
|
- | 3.0 |
|
B | |
| 24428 | chr17 | 16086367 | C | G |
c.3092G>C
|
p.Arg1031Thr
|
- | 3.0 |
|
B | |
| 23397 | chr17 | 16087354 | G | A |
c.3017-912C>T
|
-
|
3.0 |
|
B | ||
| 5931 | chr17 | 16091995 | G | C |
c.2884C>G
|
p.Arg962Gly
|
- | 3.0 |
|
B | |
| 34643 | chr17 | 16092018 | A | T |
c.2861T>A
|
p.Val954Glu
|
- | 3.0 |
|
B | |
| 19763 | chr17 | 16092078 | C | A |
c.2821-20G>T
|
-
|
- | 3.0 |
|
B | |
| 2786 | chr17 | 16101258 | C | T |
c.2682G>A
|
p.Glu894=
|
- | 3.0 |
|
B | |
| 3858 | chr17 | 16101316 | G | C |
c.2624C>G
|
p.Ser875Ter
|
- | 4.0 |
|
B | |
| 7364 | chr17 | 16101330 | C | A |
c.2610G>T
|
p.Arg870Ser
|
3.0 |
|
B | ||
| 6600 | chr17 | 16101431 | C | T |
c.2509G>A
|
p.Glu837Lys
|
3.0 |
|
B | ||
| 27504 | chr17 | 16101694 | G | A |
c.2246C>T
|
p.Pro749Leu
|
- | 3.0 |
|
B | |
| 4466 | chr17 | 16101727 | G | A |
c.2213C>T
|
p.Pro738Leu
|
- | 3.0 |
|
B | |
| 6452 | chr17 | 16118014 | A | T |
c.1929T>A
|
p.His643Gln
|
- | 3.0 |
|
B | |
| 32940 | chr17 | 16119423 | CT | C |
c.1914del
|
p.Gly639ValfsTer2
|
- | 3.5 |
|
B | |
| 21796 | chr17 | 16121100 | C | A |
c.1804G>T
|
p.Ala602Ser
|
- | 3.0 |
|
B | |
| 24887 | chr17 | 16121172 | G | A |
c.1732C>T
|
p.Gln578Ter
|
- | 4.0 |
|
B | |
| 10775 | chr17 | 16121201 | G | C |
c.1703C>G
|
p.Thr568Arg
|
- | 3.0 |
|
B | |
| 3859 | chr17 | 16121220 | C | G |
c.1684G>C
|
p.Glu562Gln
|
- | 3.0 |
|
B | |
| 3860 | chr17 | 16121241 | C | G |
c.1663G>C
|
p.Asp555His
|
- | 3.0 |
|
B | |
| 31526 | chr17 | 16126098 | C | T |
c.1618G>A
|
p.Glu540Lys
|
3.0 |
|
B |