Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5077 | chr11 | 92524735 | A | T |
c.3394A>T
|
p.Ile1132Phe
|
- | 3.0 |
|
B | |
| 18594 | chr11 | 92524750 | G | A |
c.3409G>A
|
p.Glu1137Lys
|
- | 3.0 |
|
B | |
| 28642 | chr11 | 92524752 | A | T |
c.3411A>T
|
p.Glu1137Asp
|
- | 3.0 |
|
B | |
| 24422 | chr11 | 92524766 | A | T |
c.3425A>T
|
p.Asn1142Ile
|
- | 3.0 |
|
B | |
| 11956 | chr11 | 92524832 | A | T |
c.3491A>T
|
p.Asp1164Val
|
- | 3.0 |
|
B | |
| 33816 | chr11 | 92524848 | G | C |
c.3507G>C
|
p.Gln1169His
|
- | 3.0 |
|
B | |
| 34382 | chr11 | 92524882 | G | A |
c.3541G>A
|
p.Glu1181Lys
|
3.0 |
|
B | ||
| 28705 | chr11 | 92524910 | G | A |
c.3569G>A
|
p.Gly1190Glu
|
3.0 |
|
B | ||
| 2875 | chr11 | 92524922 | A | C |
c.3581A>C
|
p.Asn1194Thr
|
- | 3.0 |
|
B | |
| 3009 | chr11 | 92761910 | G | A |
c.3724G>A
|
p.Val1242Ile
|
3.0 |
|
B | ||
| 8648 | chr11 | 92762034 | G | A |
c.3848G>A
|
p.Arg1283Lys
|
3.0 |
|
B | ||
| 4175 | chr11 | 92762058 | TCTC | T |
c.3875_3877del
|
p.Ser1292del
|
- | 3.0 |
|
B | |
| 15960 | chr11 | 92762124 | T | C |
c.3938T>C
|
p.Val1313Ala
|
- | 3.0 |
|
B | |
| 7938 | chr11 | 92764901 | G | A |
c.4007G>A
|
p.Arg1336His
|
3.0 |
|
B | ||
| 12881 | chr11 | 92764916 | C | T |
c.4022C>T
|
p.Ser1341Phe
|
- | 3.0 |
|
B | |
| 1437 | chr11 | 92764925 | G | C |
c.4031G>C
|
p.Arg1344Pro
|
- | 3.0 |
|
B | |
| 1608 | chr11 | 92764946 | A | C |
c.4052A>C
|
p.Lys1351Thr
|
- | 3.0 |
|
B | |
| 28391 | chr11 | 92774058 | G | A |
c.4213G>A
|
p.Ala1405Thr
|
2.5 |
|
B | ||
| 24454 | chr11 | 92774073 | A | G |
c.4228A>G
|
p.Lys1410Glu
|
- | 3.0 |
|
B | |
| 12744 | chr11 | 92774125 | C | T |
c.4280C>T
|
p.Ser1427Phe
|
3.0 |
|
B |