Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10324 | chr6 | 161108833 | C | T |
c.4210C>T
|
p.Arg1404Trp
|
3.0 |
|
B | ||
| 16742 | chr6 | 161109891 | G | A |
c.4373G>A
|
p.Gly1458Asp
|
- | 3.0 |
|
B | |
| 35647 | chr6 | 161111857 | C | T |
c.4418C>T
|
p.Ser1473Leu
|
- | 3.0 |
|
B | |
| 17783 | chr6 | 161112766 | A | T |
c.4618A>T
|
p.Thr1540Ser
|
- | 3.0 |
|
B | |
| 25813 | chr6 | 161115216 | G | T |
c.4720G>T
|
p.Gly1574Ter
|
- | 3.0 |
|
B | |
| 14328 | chr6 | 161115228 | C | T |
c.4732C>T
|
p.Leu1578Phe
|
- | 3.0 |
|
B | |
| 11279 | chr6 | 161115270 | G | A |
c.4774G>A
|
p.Ala1592Thr
|
3.0 |
|
B | ||
| 31067 | chr6 | 161350107 | C | T |
c.1390G>A
|
p.Asp464Asn
|
- | 3.0 |
|
B | |
| 6489 | chr6 | 161360081 | G | C |
c.1285+7C>G
|
-
|
- | 3.0 |
|
B | |
| 18786 | chr6 | 161360130 | T | C |
c.1243A>G
|
p.Thr415Ala
|
- | 3.0 |
|
B | |
| 15605 | chr6 | 161360206 | C | T |
c.1168-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 15606 | chr6 | 161360208 | G | T |
c.1168-3C>A
|
-
|
- | 3.0 |
|
B | |
| 3923 | chr6 | 161569355 | C | T |
c.933G>A
|
p.Gln311=
|
3.0 |
|
B | ||
| 9805 | chr6 | 161569419 | G | T |
c.872-3C>A
|
-
|
- | 3.0 |
|
B | |
| 7507 | chr6 | 161785799 | G | A |
c.844C>T
|
p.Gln282Ter
|
- | 4.0 |
|
B | |
| 32518 | chr6 | 161785804 | TCGTGAACAAACTGC | T |
c.825_838del
|
p.Gln276ProfsTer19
|
- | 4.0 |
|
B | |
| 4248 | chr6 | 161785891 | A | G |
c.752T>C
|
p.Phe251Ser
|
- | 3.0 |
|
B | |
| 24558 | chr6 | 161973284 | C | T |
c.734+18G>A
|
-
|
- | 3.0 |
|
B | |
| 23477 | chr6 | 161973302 | C | A |
c.734G>T
|
p.Arg245Met
|
3.0 |
|
B | ||
| 14485 | chr6 | 162201180 | A | G |
c.485T>C
|
p.Leu162Pro
|
3.0 |
|
B |