Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 223 | chr5 | 68295278 | A | G |
c.1699A>G
|
p.Lys567Glu
|
3.67 |
|
A | ||
| 26396 | chr5 | 68295287 | CTTATCCAGCTGAGAAAGACGAGAG | C |
c.1709_1732del
|
p.Leu570_Asp578delinsHis
|
- | 3.0 |
|
B | |
| 232 | chr5 | 68295288 | TTATCCAGC | T |
c.1711_1718del
|
p.Ile571GlufsTer28
|
- | 4.33 |
|
A | |
| 8411 | chr5 | 68295297 | T | C |
c.1718T>C
|
p.Leu573Pro
|
- | 3.0 |
|
B | |
| 1648 | chr5 | 68295306 | CGAGAGACCAATACTT | C |
c.1730_1744del
|
p.Arg577_Leu581del
|
- | 3.0 |
|
B | |
| 2225 | chr5 | 68295312 | A | ACCT |
c.1735_1736insTCC
|
p.Asp578_Gln579insLeu
|
- | 3.0 |
|
B | |
| 5023 | chr5 | 68295401 | TTTCAAAACTGTTTTTCAGGTGGTTGACTCA | T |
c.1746-18_1757del
|
p.?
|
- | 4.0 |
|
B | |
| 4455 | chr5 | 68295418 | A | G |
c.1746-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 18008 | chr5 | 68295419 | G | C |
c.1746-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 965 | chr5 | 68295430 | CAA | C |
c.1760_1761del
|
p.Lys587ArgfsTer14
|
- | 4.0 |
|
B | |
| 7744 | chr5 | 68295434 | AAG | A |
c.1761_1762del
|
p.Gly588CysfsTer13
|
- | 4.0 |
|
B | |
| 29250 | chr5 | 68295452 | AGTTG | A |
c.1779_1782del
|
p.Leu594ThrfsTer67
|
- | 4.0 |
|
B | |
| 29251 | chr5 | 68295457 | AACGAGTGGTTGGGCAATGAAAACACTGAAGAGT | A |
c.1785_1814+3del
|
p.?
|
- | 4.0 |
|
B | |
| 6900 | chr5 | 68295473 | ATGAAAACACTGAAGAG | A |
c.1801_1814+2del
|
p.?
|
- | 4.0 |
|
B | |
| 14324 | chr5 | 68296346 | G | A |
c.1985+5G>A
|
-
|
- | 3.5 |
|
B | |
| 35450 | chr5 | 68297419 | G | A |
c.1993G>A
|
p.Gly665Ser
|
3.0 |
|
B | ||
| 7331 | chr5 | 68297441 | TAAAC | T |
c.2019_2022del
|
p.Asn673LysfsTer18
|
- | 4.0 |
|
B | |
| 28023 | chr5 | 68297503 | G | T |
c.2077G>T
|
p.Glu693Ter
|
- | 4.0 |
|
B | |
| 26040 | chr5 | 68297513 | T | G |
c.2087T>G
|
p.Leu696Arg
|
- | 3.0 |
|
B | |
| 8530 | chr5 | 68297567 | T | G |
c.2141T>G
|
p.Leu714Arg
|
3.0 |
|
B |