Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19393 | chr2 | 178614226 | G | A |
c.49171C>T
|
p.Arg16391Ter
|
3.0 |
|
B | ||
| 14472 | chr2 | 178614270 | C | T |
c.49127G>A
|
p.Arg16376His
|
3.0 |
|
B | ||
| 30580 | chr2 | 178614679 | G | A |
c.48835C>T
|
p.Pro16279Ser
|
3.0 |
|
B | ||
| 21148 | chr2 | 178614871 | C | T |
c.48736G>A
|
p.Glu16246Lys
|
3.0 |
|
B | ||
| 34986 | chr2 | 178614879 | G | T |
c.48728C>A
|
p.Pro16243His
|
- | 3.0 |
|
B | |
| 26847 | chr2 | 178615731 | C | G |
c.48370G>C
|
p.Glu16124Gln
|
- | 3.0 |
|
B | |
| 12639 | chr2 | 178615751 | G | A |
c.48350C>T
|
p.Pro16117Leu
|
- | 3.0 |
|
B | |
| 9607 | chr2 | 178616477 | A | T |
c.48312+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 17735 | chr2 | 178616532 | A | C |
c.48259T>G
|
p.Leu16087Val
|
- | 3.0 |
|
B | |
| 18066 | chr2 | 178616597 | C | T |
c.48194G>A
|
p.Gly16065Asp
|
3.0 |
|
B | ||
| 22835 | chr2 | 178616753 | C | T |
c.48136G>A
|
p.Gly16046Arg
|
- | 3.0 |
|
B | |
| 12619 | chr2 | 178616872 | C | G |
c.48017G>C
|
p.Gly16006Ala
|
- | 3.0 |
|
B | |
| 35436 | chr2 | 178616888 | T | C |
c.48001A>G
|
p.Lys16001Glu
|
- | 3.0 |
|
B | |
| 27856 | chr2 | 178616954 | G | A |
c.47935C>T
|
p.Pro15979Ser
|
3.0 |
|
B | ||
| 16285 | chr2 | 178616983 | T | A |
c.47906A>T
|
p.Lys15969Ile
|
3.0 |
|
B | ||
| 25612 | chr2 | 178617129 | C | T |
c.47866G>A
|
p.Asp15956Asn
|
3.0 |
|
B | ||
| 16574 | chr2 | 178617216 | C | T |
c.47779G>A
|
p.Gly15927Arg
|
3.0 |
|
B | ||
| 12989 | chr2 | 178617238 | C | T |
c.47761-4G>A
|
-
|
2.0 |
|
B | ||
| 27243 | chr2 | 178617352 | C | T |
c.47733G>A
|
p.Met15911Ile
|
- | 3.0 |
|
B | |
| 31438 | chr2 | 178617482 | G | T |
c.47603C>A
|
p.Ser15868Tyr
|
- | 3.0 |
|
B |