Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17065 | chr11 | 92799117 | T | C |
c.6104T>C
|
p.Ile2035Thr
|
- | 3.0 |
|
B | |
| 20666 | chr11 | 92799206 | G | A |
c.6193G>A
|
p.Val2065Met
|
3.0 |
|
B | ||
| 1810 | chr11 | 92799213 | G | T |
c.6200G>T
|
p.Arg2067Ile
|
- | 3.0 |
|
B | |
| 35172 | chr11 | 92799237 | A | T |
c.6224A>T
|
p.Glu2075Val
|
- | 3.0 |
|
B | |
| 18516 | chr11 | 92799255 | C | T |
c.6242C>T
|
p.Ser2081Phe
|
- | 3.0 |
|
B | |
| 14383 | chr11 | 92799444 | C | A |
c.6431C>A
|
p.Ala2144Glu
|
3.0 |
|
B | ||
| 7197 | chr11 | 92799502 | C | CGGTTTT |
c.6491_6492insTTTTGG
|
p.Gly2164_Lys2165insPheGly
|
- | 3.0 |
|
B | |
| 15632 | chr11 | 92799620 | A | G |
c.6607A>G
|
p.Thr2203Ala
|
- | 3.0 |
|
B | |
| 17045 | chr11 | 92799797 | G | A |
c.6784G>A
|
p.Asp2262Asn
|
3.0 |
|
B | ||
| 27383 | chr11 | 92799863 | C | A |
c.6850C>A
|
p.Pro2284Thr
|
3.0 |
|
B | ||
| 2054 | chr11 | 92799875 | G | A |
c.6862G>A
|
p.Asp2288Asn
|
3.0 |
|
B | ||
| 21407 | chr11 | 92799894 | C | A |
c.6881C>A
|
p.Thr2294Lys
|
- | 3.0 |
|
B | |
| 18517 | chr11 | 92799915 | T | G |
c.6902T>G
|
p.Leu2301Arg
|
- | 3.0 |
|
B | |
| 26886 | chr11 | 92800006 | C | A |
c.6993C>A
|
p.Tyr2331Ter
|
- | 3.0 |
|
B | |
| 7258 | chr11 | 92800091 | T | C |
c.7078T>C
|
p.Cys2360Arg
|
- | 3.0 |
|
B | |
| 8966 | chr11 | 92800200 | A | G |
c.7187A>G
|
p.Gln2396Arg
|
- | 3.0 |
|
B | |
| 26575 | chr11 | 92800284 | C | T |
c.7271C>T
|
p.Ser2424Phe
|
- | 3.0 |
|
B | |
| 7573 | chr11 | 92800290 | T | G |
c.7277T>G
|
p.Phe2426Cys
|
- | 3.0 |
|
B | |
| 23382 | chr11 | 92800296 | GGTT | G |
c.7285_7287del
|
p.Leu2429del
|
- | 3.0 |
|
B | |
| 12685 | chr11 | 92800301 | G | A |
c.7288G>A
|
p.Glu2430Lys
|
3.0 |
|
B |